ENSMUST00000000001.5 Gnai3 ENSMUST00000000001.5 G protein subunit alpha i3 (from RefSeq NM_010306.3) A2AE36 ENSMUST00000000001.1 ENSMUST00000000001.2 ENSMUST00000000001.3 ENSMUST00000000001.4 GNAI3_MOUSE NM_010306 Q3TGV1 Q61019 Q9DC51 uc008qyd.1 uc008qyd.2 uc008qyd.3 uc008qyd.4 Heterotrimeric guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP-bound state and an inactive, GDP-bound state. Signaling by an activated GPCR promotes GDP release and GTP binding. The alpha subunit has a low GTPase activity that converts bound GTP to GDP, thereby terminating the signal. Both GDP release and GTP hydrolysis are modulated by numerous regulatory proteins. Signaling is mediated via effector proteins, such as adenylate cyclase. Inhibits adenylate cyclase activity, leading to decreased intracellular cAMP levels. Stimulates the activity of receptor-regulated K(+) channels. The active GTP-bound form prevents the association of RGS14 with centrosomes and is required for the translocation of RGS14 from the cytoplasm to the plasma membrane. May play a role in cell division. Heterotrimeric G proteins are composed of 3 units; alpha, beta and gamma. The alpha subunit contains the guanine nucleotide binding site. GTP binding causes dissociation of the heterotrimer, liberating the individual subunits so that they can interact with downstream effector proteins (By similarity). Forms a complex with CCDC88A/GIV and EGFR which leads to enhanced EGFR signaling and triggering of cell migration; ligand stimulation is required for recruitment of GNAI3 to the complex (By similarity). Interacts (inactive GDP-bound form) with CCDC88A/GIV (via GBA motif); the interaction leads to activation of GNAI3 (By similarity). Interacts (inactive GDP-bound form) with CCDC88C/DAPLE (via GBA motif); the interaction leads to activation of GNAI3 (By similarity). Interacts (inactive GDP-bound form) with NUCB1 (via GBA motif) and NUCB2 (via GBA motif); the interaction leads to activation of GNAI3 (By similarity). Interacts (inactive GDP-bound form) with PLCD4 (via GBA motif); the interaction leads to activation of GNAI3 (By similarity). Interacts with INSR; the interaction is probably mediated by CCDC88A/GIV (By similarity). Interacts with GPSM1 (PubMed:16009138). Interacts (GDP-bound form) with GPSM2 (via GoLoco domains). Does not interact with RGS2. Interacts with RGS8 and RGS10; this strongly enhances the intrinsic GTPase activity. Interacts with RGS16; this strongly enhances the intrinsic GTPase activity (By similarity). Interacts with RGS12 (By similarity). Interacts (via active GTP- or inactive GDP-bound form) with RGS14 (By similarity). Q9DC51; P09405: Ncl; NbExp=4; IntAct=EBI-641852, EBI-641864; Cytoplasm Cell membrane ; Lipid-anchor Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Note=Localizes in the centrosomes of interphase and mitotic cells. Detected at the cleavage furrow and/or the midbody. Belongs to the G-alpha family. G(i/o/t/z) subfamily. Golgi membrane nucleotide binding G-protein coupled receptor binding GTPase activity protein binding GTP binding nucleus nucleolus cytoplasm endoplasmic reticulum membrane Golgi apparatus centrosome microtubule organizing center heterotrimeric G-protein complex cytoskeleton plasma membrane vesicle fusion cell cycle signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-modulating G-protein coupled receptor signaling pathway adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway dopamine receptor signaling pathway brain development membrane positive regulation of macroautophagy guanyl nucleotide binding GDP binding protein domain specific binding midbody G-protein beta/gamma-subunit complex binding G-protein coupled serotonin receptor binding GTPase activating protein binding positive regulation of superoxide anion generation positive regulation of NAD(P)H oxidase activity zymogen granule membrane raft GTP metabolic process metal ion binding cell division positive regulation of vascular smooth muscle cell proliferation negative regulation of apoptotic signaling pathway regulation of heart contraction uc008qyd.1 uc008qyd.2 uc008qyd.3 uc008qyd.4 
ENSMUST00000000003.14 Pbsn ENSMUST00000000003.14 probasin (from RefSeq NM_017471.3) ENSMUST00000000003.1 ENSMUST00000000003.10 ENSMUST00000000003.11 ENSMUST00000000003.12 ENSMUST00000000003.13 ENSMUST00000000003.2 ENSMUST00000000003.3 ENSMUST00000000003.4 ENSMUST00000000003.5 ENSMUST00000000003.6 ENSMUST00000000003.7 ENSMUST00000000003.8 ENSMUST00000000003.9 NM_017471 Pbsn Q3UV89 Q3UV89_MOUSE uc009tqr.1 uc009tqr.2 uc009tqr.3 Secreted Belongs to the calycin superfamily. Lipocalin family. small molecule binding uc009tqr.1 uc009tqr.2 uc009tqr.3 
ENSMUST00000000010.9 Hoxb9 ENSMUST00000000010.9 homeobox B9 (from RefSeq NM_008270.2) A2A9Z6 ENSMUST00000000010.1 ENSMUST00000000010.2 ENSMUST00000000010.3 ENSMUST00000000010.4 ENSMUST00000000010.5 ENSMUST00000000010.6 ENSMUST00000000010.7 ENSMUST00000000010.8 HXB9_MOUSE Hox-2.5 Hoxb-9 NM_008270 P20615 uc007lbn.1 uc007lbn.2 uc007lbn.3 uc007lbn.4 Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Belongs to the Abd-B homeobox family. DNA binding nucleus nucleoplasm mitochondrion transcription, DNA-templated regulation of transcription, DNA-templated multicellular organism development anterior/posterior pattern specification mammary gland development sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter embryonic skeletal system development cell chemotaxis RNA polymerase II transcription factor complex RNA polymerase II regulatory region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding uc007lbn.1 uc007lbn.2 uc007lbn.3 uc007lbn.4 
ENSMUST00000000028.14 Cdc45 ENSMUST00000000028.14 cell division cycle 45, transcript variant 1 (from RefSeq NM_009862.3) CDC45_MOUSE Cdc45l Cdc45l2 ENSMUST00000000028.1 ENSMUST00000000028.10 ENSMUST00000000028.11 ENSMUST00000000028.12 ENSMUST00000000028.13 ENSMUST00000000028.2 ENSMUST00000000028.3 ENSMUST00000000028.4 ENSMUST00000000028.5 ENSMUST00000000028.6 ENSMUST00000000028.7 ENSMUST00000000028.8 ENSMUST00000000028.9 NM_009862 O70547 Q9QUK1 Q9R212 Q9Z1X9 uc007yom.1 uc007yom.2 uc007yom.3 Required for initiation of chromosomal DNA replication. Associated with ORC2. Interacts with HELB (By similarity). Component of the CMG helicase complex, composed of the MCM2-7 complex, the GINS complex and CDC45 (By similarity). Nucleus. Widely expressed. Belongs to the CDC45 family. double-strand break repair via break-induced replication chromatin binding DNA replication origin binding single-stranded DNA binding nucleus nuclear pre-replicative complex centrosome DNA replication DNA replication initiation cell cycle DNA replication preinitiation complex replication fork protection complex regulation of chromatin silencing at telomere DNA duplex unwinding 3'-5' DNA helicase activity positive regulation of G1/S transition of mitotic cell cycle mitotic DNA replication preinitiation complex assembly uc007yom.1 uc007yom.2 uc007yom.3 
ENSMUST00000000049.6 Apoh ENSMUST00000000049.6 apolipoprotein H (from RefSeq NM_013475.4) APOH_MOUSE B2gp1 ENSMUST00000000049.1 ENSMUST00000000049.2 ENSMUST00000000049.3 ENSMUST00000000049.4 ENSMUST00000000049.5 NM_013475 Q01339 uc007mbp.1 uc007mbp.2 uc007mbp.3 uc007mbp.4 Binds to various kinds of negatively charged substances such as heparin, phospholipids, and dextran sulfate. May prevent activation of the intrinsic blood coagulation cascade by binding to phospholipids on the surface of damaged cells. Secreted. Expressed by the liver and secreted in plasma. negative regulation of endothelial cell proliferation phospholipid binding extracellular region extracellular space cytoplasm plasma membrane triglyceride metabolic process blood coagulation blood coagulation, intrinsic pathway heparin binding lipid binding cell surface negative regulation of endothelial cell migration positive regulation of triglyceride catabolic process negative regulation of angiogenesis regulation of blood coagulation negative regulation of blood coagulation animal organ regeneration plasminogen activation negative regulation of myeloid cell apoptotic process triglyceride transport very-low-density lipoprotein particle high-density lipoprotein particle negative regulation of smooth muscle cell apoptotic process chylomicron identical protein binding positive regulation of lipoprotein lipase activity regulation of fibrinolysis negative regulation of fibrinolysis lipoprotein lipase activator activity negative regulation of respiratory burst uc007mbp.1 uc007mbp.2 uc007mbp.3 uc007mbp.4 
ENSMUST00000000058.7 Cav2 ENSMUST00000000058.7 caveolin 2, transcript variant 1 (from RefSeq NM_016900.4) CAV2_MOUSE ENSMUST00000000058.1 ENSMUST00000000058.2 ENSMUST00000000058.3 ENSMUST00000000058.4 ENSMUST00000000058.5 ENSMUST00000000058.6 NM_016900 Q3TYR4 Q9WVC3 uc009azn.1 uc009azn.2 uc009azn.3 uc009azn.4 This gene belongs to the caveolin family whose members encode the major protein components of caveolae, which are invaginations of plasma membrane. This gene is located adjacent to caveolin-1 and the proteins coexpressed by the two genes localize together in caveolae, where they form hetero-oligomers. The encoded protein may be involved in diverse cellular functions including proliferation, differentiation, endocytosis and trafficking. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]. May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity. Acts as an accessory protein in conjunction with CAV1 in targeting to lipid rafts and driving caveolae formation. The Ser-36 phosphorylated form has a role in modulating mitosis in endothelial cells. Positive regulator of cellular mitogenesis of the MAPK signaling pathway. Required for the insulin-stimulated nuclear translocation and activation of MAPK1 and STAT3, and the subsequent regulation of cell cycle progression (By similarity). Monomer or homodimer. Interacts with CAV1; the interaction forms a stable heterooligomeric complex that is required for targeting to lipid rafts and for caveolae formation. Tyrosine phosphorylated forms do not form heterooligomers with the Tyr-19-phosphorylated form existing as a monomer or dimer, and the Tyr-27-form as a monomer only. Interacts (tyrosine phosphorylated form) with the SH2 domain-containing proteins, RASA1, NCK1 and SRC. Interacts (tyrosine phosphorylated form) with INSR, the interaction (Tyr-27-phosphorylated form) is increased on insulin stimulation. Interacts (Tyr-19 phosphorylated form) with MAPK1 (phosphorylated form); the interaction, promoted by insulin, leads to nuclear location and MAPK1 activation. Interacts with STAT3; the interaction is increased on insulin-induced tyrosine phosphorylation leading to STAT activation (By similarity). Nucleus. Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Membrane, caveola; Peripheral membrane protein. Note=Potential hairpin-like structure in the membrane. Membrane protein of caveolae. Tyr-19-phosphorylated form is enriched at sites of cell-cell contact and is translocated to the nucleus in complex with MAPK1 in response to insulin. Tyr-27-phosphorylated form is located both in the cytoplasm and plasma membrane. CAV1-mediated Ser-23-phosphorylated form locates to the plasma membrane. Ser-36-phosphorylated form resides in intracellular compartments (By similarity). Phosphorylated on serine and tyrosine residues. CAV1 promotes phosphorylation on Ser-23 which then targets the complex to the plasma membrane, lipid rafts and caveolae. Phosphorylation on Ser-36 appears to modulate mitosis in endothelial cells. Phosphorylation on both Tyr- 19 and Tyr-27 is required for insulin-induced 'Ser-727' phosphorylation of STAT3 and its activation. Phosphorylation on Tyr-19 is required for insulin-induced phosphorylation of MAPK1 and DNA binding of STAT3. Tyrosine phosphorylation is induced by both EGF and insulin (By similarity). Belongs to the caveolin family. Golgi membrane SNARE binding negative regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation acrosomal membrane caveolar macromolecular signaling complex nucleus nuclear envelope nuclear inner membrane cytoplasm endoplasmic reticulum Golgi apparatus lipid particle cytosol plasma membrane integral component of plasma membrane caveola focal adhesion endocytosis vesicle fusion mitochondrion organization endoplasmic reticulum organization regulation of mitotic nuclear division chemical synaptic transmission negative regulation of cell proliferation insulin receptor signaling pathway cell surface membrane vesicle organization receptor-mediated endocytosis of virus by host cell protein kinase binding syntaxin binding transport vesicle cell differentiation negative regulation of transforming growth factor beta receptor signaling pathway protein binding, bridging extrinsic component of cytoplasmic side of plasma membrane cytoplasmic vesicle mitogen-activated protein kinase kinase kinase binding D1 dopamine receptor binding macromolecular complex protein homodimerization activity positive regulation of MAPK cascade positive regulation of GTPase activity positive regulation by host of viral release from host cell positive regulation by host of viral process membrane raft protein heterodimerization activity vesicle docking perinuclear region of cytoplasm skeletal muscle fiber development positive regulation of peptidyl-tyrosine phosphorylation phosphoprotein binding binding, bridging positive regulation of dopamine receptor signaling pathway caveola assembly basement membrane organization scaffold protein binding positive regulation of protein localization to nucleus sarcolemma uc009azn.1 uc009azn.2 uc009azn.3 uc009azn.4 
ENSMUST00000000080.8 Klf6 ENSMUST00000000080.8 Kruppel-like transcription factor 6 (from RefSeq NM_011803.2) ENSMUST00000000080.1 ENSMUST00000000080.2 ENSMUST00000000080.3 ENSMUST00000000080.4 ENSMUST00000000080.5 ENSMUST00000000080.6 ENSMUST00000000080.7 Klf6 NM_011803 Q8BPQ2 Q8BPQ2_MOUSE uc007pjw.1 uc007pjw.2 uc007pjw.3 Nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding fibrillar center nucleic acid binding nucleus nucleolus cytosol intracellular membrane-bounded organelle positive regulation of transcription from RNA polymerase II promoter uc007pjw.1 uc007pjw.2 uc007pjw.3 
ENSMUST00000000087.13 Scmh1 ENSMUST00000000087.13 sex comb on midleg homolog 1, transcript variant 11 (from RefSeq NR_175812.1) B1AS51 ENSMUST00000000087.1 ENSMUST00000000087.10 ENSMUST00000000087.11 ENSMUST00000000087.12 ENSMUST00000000087.2 ENSMUST00000000087.3 ENSMUST00000000087.4 ENSMUST00000000087.5 ENSMUST00000000087.6 ENSMUST00000000087.7 ENSMUST00000000087.8 ENSMUST00000000087.9 NR_175812 Q8K214 Q9JME0 SCMH1_MOUSE Scmh1 uc008und.1 uc008und.2 uc008und.3 uc008und.4 Associates with Polycomb group (PcG) multiprotein complexes; the complex class is required to maintain the transcriptionally repressive state of some genes. Associates with a PRC1-like complex (By similarity). Interacts with the SAM domain of PHC1 via its SAM domain in vitro. Q8K214; O88513: Gmnn; NbExp=2; IntAct=EBI-445955, EBI-445922; Q8K214; Q64028: Phc1; NbExp=2; IntAct=EBI-445955, EBI-927346; Nucleus Event=Alternative splicing; Named isoforms=2; Name=1 ; IsoId=Q8K214-1; Sequence=Displayed; Name=2 ; IsoId=Q8K214-2; Sequence=VSP_051680, VSP_051681; Most abundant in testis. Moderate levels detected in heart, brain, lung, liver, skeletal muscle and kidney and lower levels in spleen. Detected throughout embryogenesis. Expressed ubiquitously in 8.5 dpc embryos. At 10.5 dpc, strongly expressed in nervous system including hindbrain and spinal cord, and in the pharyngeal arches and visceral organs. By 14.5 dpc, strong expression is detected throughout the central nervous system, and in tongue, heart, midgut and urogenital regions. By retinoic acid in F9 and F19 embryonal carcinoma cell lines. Belongs to the SCM family. protein binding nucleus chromatin remodeling regulation of transcription, DNA-templated multicellular organism development spermatogenesis anterior/posterior pattern specification chromocenter gene silencing negative regulation of transcription, DNA-templated uc008und.1 uc008und.2 uc008und.3 uc008und.4 
ENSMUST00000000090.8 Cox5a ENSMUST00000000090.8 cytochrome c oxidase subunit 5A (from RefSeq NM_007747.2) COX5A_MOUSE ENSMUST00000000090.1 ENSMUST00000000090.2 ENSMUST00000000090.3 ENSMUST00000000090.4 ENSMUST00000000090.5 ENSMUST00000000090.6 ENSMUST00000000090.7 NM_007747 P12787 Q9D2W1 uc009puz.1 uc009puz.2 uc009puz.3 uc009puz.4 Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix. Energy metabolism; oxidative phosphorylation. Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I, COX5A, COX5B, COX6A, COX6B, COX6C, COX7A, COX7B, COX7C, COX8 and NDUFA4, which are encoded in the nuclear genome. The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (By similarity). Interacts with AFG1L (By similarity). Interacts with RAB5IF (By similarity). Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side Belongs to the cytochrome c oxidase subunit 5A family. cytochrome-c oxidase activity mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex IV mitochondrial electron transport, cytochrome c to oxygen membrane myelin sheath metal ion binding hydrogen ion transmembrane transport uc009puz.1 uc009puz.2 uc009puz.3 uc009puz.4 
ENSMUST00000000095.7 Tbx2 ENSMUST00000000095.7 T-box 2 (from RefSeq NM_009324.2) ENSMUST00000000095.1 ENSMUST00000000095.2 ENSMUST00000000095.3 ENSMUST00000000095.4 ENSMUST00000000095.5 ENSMUST00000000095.6 NM_009324 Q5SSP7 Q60707 TBX2_MOUSE uc007ksb.1 uc007ksb.2 uc007ksb.3 Transcription factor which acts as a transcriptional repressor (PubMed:22186728, PubMed:11867218, PubMed:18025091, PubMed:12023302). May also function as a transcriptional activator (PubMed:26486273, PubMed:22186728, PubMed:11867218). Binds to the palindromic T site 5'-TTCACACCTAGGTGTGAA-3' DNA sequence, or a half- site, which are present in the regulatory region of several genes (PubMed:9710594, PubMed:26971330, PubMed:12023302, PubMed:33731112, PubMed:27720610). Required for cardiac atrioventricular canal formation (PubMed:15459098). May cooperate with NKX2.5 to negatively modulate expression of NPPA/ANF in the atrioventricular canal (PubMed:12023302). May play a role as a positive regulator of TGFB2 expression, perhaps acting in concert with GATA4 in the developing outflow tract myocardium (PubMed:22186728). Plays a role in limb pattern formation (PubMed:15459098). Acts as a transcriptional repressor of ADAM10 gene expression, perhaps in concert with histone deacetylase HDAC1 as cofactor (PubMed:30599067). Involved in branching morphogenesis in both developing lungs and adult mammary glands, via negative modulation of target genes; acting redundantly with TBX3 (PubMed:27720610, PubMed:16222716). Required, together with TBX3, to maintain cell proliferation in the embryonic lung mesenchyme; perhaps acting downstream of SHH, BMP and TGFbeta signaling (PubMed:27720610). Involved in modulating early inner ear development, acting independently of, and also redundantly with TBX3, in different subregions of the developing ear (PubMed:33795231). Acts as a negative regulator of PML function in cellular senescence (By similarity). Acts as a negative regulator of expression of CDKN1A/p21, IL33 and CCN4; repression of CDKN1A is enhanced in response to UV-induced stress, perhaps as a result of phosphorylation by p38 MAPK (PubMed:18025091, PubMed:33731112). Negatively modulates expression of CDKN2A/p19ARF and CDH1/E-cadherin (By similarity). Plays a role in induction of the epithelial-mesenchymal transition (EMT) (By similarity). Plays a role in melanocyte proliferation, perhaps via regulation of cyclin CCND1 (PubMed:26486273). Involved in melanogenesis, acting via negative modulation of expression of DHICA oxidase/TYRP1 and P protein/OCA2 (PubMed:26971330, PubMed:9710594). Involved in regulating retinal pigment epithelium (RPE) cell proliferation, perhaps via negatively modulating transcription of the transcription factor CEBPD (PubMed:28910203). Binds DNA as a monomer (By similarity). Interacts with CHD4, HDAC1 and HDAC2, perhaps as components of a NuRD-like complex (PubMed:33731112). Interacts with CBX3, HMGB2 and PBX1 (PubMed:33731112). Interacts with PML (By similarity). Nucleus In adults, highest levels in lung. Also found in heart, kidney, and ovary. Expressed in the otic placode at 8.5 dpc (at protein level) (PubMed:33795231). Between 10.5-12.0 dpc, expressed in various regions of the developing ear, including the cochlear duct, endolymphatic duct and the vestibule, but not in the region which gives rise to the posterior and anterior semicircular canals (at protein level) (PubMed:33795231). Expressed at 8.5 dpc in the cardiac crescent, the atrium and the inflow tract (IFT) (PubMed:15459098). Expressed at 9.5 dpc in the otic and optic vesicles, facial region, septum transversum, bilateral nephrogenic mesodermal cords, ventral body wall mesoderm caudal to the forelimbs, pharyngeal arch mesenchyme that contains neural crest cells, including those migrating into the outflow tract (OFT), septum OFT, inner curvature, atrioventricular canal (AVC) and IFT of the heart (PubMed:7920656, PubMed:8853987, PubMed:15459098, PubMed:33795231). Expressed in a continuous stripe of mesenchyme in the ventro-lateral body wall between the fore and hind limb buds at day 10.5-11.5 dpc (PubMed:16222716). At 12.5 dpc, expressed in the trigeminal ganglia, facial regions, retina and limb bud mesenchyme (PubMed:8853987). In later stages, found in ear pinnae, the milk line, lung mesenchyme, body wall, genital ridge and developing nervous system (PubMed:8853987, PubMed:33731112). Expressed in proliferating retinal pigment epithelium (RPE) cells at 14.5 dpc, and continues after birth, but diminishes by postnatal day 90 (PubMed:28910203). Expressed in melanocytes of postnatal day 3 hair follicles (PubMed:26486273). Repression domain 1 (RD1) is involved in transcriptional repression (By similarity). RD1 is necessary for its interaction with PML (By similarity). Phosphorylated (PubMed:18025091). May be phosphorylated by p38 MAPK in response to UV irradiation stress (PubMed:18025091). Knockouts do not survive beyond embryonic 14.5 dpc (PubMed:15459098). Abnormal atrioventricular morphology at 9.5-10.5 dpc and outflow tract (OFT) septation defects in those surviving to 12.5 dpc (PubMed:15459098). Hindlimb digit duplication at 14.5 dpc (PubMed:15459098). Increased expression of CDKN1A, FRZB, IL33, SHISA3, and CCN4/WISP1 in lung mesenchyme between 12.5-14.5 dpc (PubMed:33731112). Conditional knockdown targeted mainly to lung mesenchyme causes lung hypoplasia at 18.5 dpc (PubMed:27720610). Conditional knockdown targeted mainly to the otic epithelium disrupts inner ear morphogenesis, which is exacerbated by simultaneous conditional knockdown of TBX3 (PubMed:33795231). Simultaneous conditional knockdown of TBX2 and TBX3 targeted mainly to lung mesenchyme causes severe bleeding from 10.5 dpc and embryos die shortly thereafter, perhaps as a result of knockdown in the developing heart (PubMed:27720610). Sequence=AAC52697.1; Type=Frameshift; Evidence=; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding cell fate specification heart looping heart morphogenesis outflow tract septum morphogenesis outflow tract morphogenesis endocardial cushion morphogenesis cardiac chamber development regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus transcription factor complex regulation of transcription, DNA-templated Notch signaling pathway multicellular organism development central nervous system development muscle cell fate determination cell aging regulation of heart contraction positive regulation of cell proliferation embryonic heart tube development aorta morphogenesis atrioventricular canal development embryonic digit morphogenesis sequence-specific DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter embryonic camera-type eye morphogenesis cardiac muscle tissue development palate development positive regulation of cardiac muscle cell proliferation pharynx development developmental growth involved in morphogenesis mammary placode formation cellular senescence negative regulation of heart looping negative regulation of cardiac chamber formation uc007ksb.1 uc007ksb.2 uc007ksb.3 
ENSMUST00000000122.7 Ngfr ENSMUST00000000122.7 nerve growth factor receptor (TNFR superfamily, member 16) (from RefSeq NM_033217.3) ENSMUST00000000122.1 ENSMUST00000000122.2 ENSMUST00000000122.3 ENSMUST00000000122.4 ENSMUST00000000122.5 ENSMUST00000000122.6 NM_033217 Q8CFT3 Q9Z0W1 TNR16_MOUSE Tnfrsf16 uc007lam.1 uc007lam.2 uc007lam.3 uc007lam.4 uc007lam.5 Low affinity neurotrophin receptor which can bind to mature NGF, BDNF, NTF3, and NTF4 (PubMed:11559852, PubMed:1317267). Forms a heterodimeric receptor with SORCS2 that binds the precursor forms of NGF (proNGF), BDNF (proBDNF) and NTF3 (proNT3) with high affinity, and has much lower affinity for mature NGF and BDNF (PubMed:22155786, PubMed:24908487, PubMed:27457814). Plays an important role in differentiation and survival of specific neuronal populations during development (PubMed:1317267, PubMed:11559852). Can mediate cell survival as well as cell death of neural cells (PubMed:1317267, PubMed:11559852, PubMed:24908487). The heterodimeric receptor formed with SORCS2 plays a role in proBDNF-dependent synaptic plasticity, in hippocampal long term depression (LTD) and long term potentiation (LTP) (PubMed:27457814). Plays a role in the inactivation of RHOA (By similarity). Plays a role in the regulation of the translocation of GLUT4 to the cell surface in adipocytes and skeletal muscle cells in response to insulin, probably by regulating RAB31 activity, and thereby contributes to the regulation of insulin-dependent glucose uptake (PubMed:22460790). Necessary for the circadian oscillation of the clock genes BMAL1, PER1, PER2 and NR1D1 in the suprachiasmatic nucleus (SCN) of the brain and in liver and of the genes involved in glucose and lipid metabolism in the liver (PubMed:23785138). (Microbial infection) Cell surface receptor for rabies virus glycoprotein Gs. [Isoform 2]: Does not bind NGF, BDNF, NTF3, and NTF4. Homodimer; disulfide-linked. Heterodimer with SORCS2 (PubMed:22155786, PubMed:24908487, PubMed:27457814). The extracellular domains of the heterodimer bind NGF. The cytoplasmic region of the heterodimer binds TRIO. NGF binding mediates dissociation of TRIO from the receptor complex (PubMed:22155786). Interacts with TRAF2, TRAF4, TRAF6, PTPN13 and RANBP9. Interacts through TRAF6 with SQSTM1 which bridges NGFR to NTRK1. Interacts with BEX1 (By similarity). Interacts with BEX3 (PubMed:11830582). Interacts with KIDINS220 and NTRK1. Can form a ternary complex with NTRK1 and KIDINS220 and this complex is affected by the expression levels of KIDINS220. An increase in KIDINS220 expression leads to a decreased association of NGFR and NTRK1. Interacts (via death domain) with RAB31 (PubMed:22460790). Interacts with NTRK2; may regulate the ligand specificity of the NTRK2 receptor (PubMed:11559852). Interacts with LINGO1. Interacts with NRADD. Interacts with MAGED1; the interaction antagonizes the association NGFR:NTRK1 (By similarity). Interacts with RTN4R (PubMed:22923615). Interacts (via death domain) with ARHGDIA and RIPK2 (By similarity). (Microbial infection) Binds to rabies virus glycoprotein Gs. Q9Z0W1; Q9EPR5: Sorcs2; NbExp=4; IntAct=EBI-4411273, EBI-9915438; Cell membrane ingle-pass type I membrane protein Perikaryon Cell projection, growth cone Cell projection, dendritic spine Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Z0W1-1; Sequence=Displayed; Name=2; Synonyms=s-p75 ; IsoId=Q9Z0W1-2; Sequence=Not described; Detected in Schwann cells (PubMed:11559852). Detected in embryonic brain, in hippocampus neurons (at protein level) (PubMed:22155786, PubMed:27457814). Detected in brain and spinal cord (PubMed:11559852). Detected in embryonic large blood vessels at 11.5 dpc. Expression oscillates in a circadian manner in the suprachiasmatic nucleus (SCN) of the brain and in liver. Expression seen at higher levels during the light period and lower during the dark period. The death domain mediates interaction with RANBP9 (By similarity). It also mediates interaction with ARHGDIA and RIPK2 (By similarity). The extracellular domain is responsible for interaction with NTRK1. N-glycosylated (PubMed:11559852). O-glycosylated. Phosphorylated on serine residues. Embryos are present at the expected Mendelian rate at 15.5 dpc, but mutant mice display about 40% perinatal lethality. At 11.5 dpc, mutant embryos display mildly to severely dilated blood vessels with thinner walls. The dorsal aorta is particularly affected. Many embryos show massive dilatations, ruptures and blood leakage. Surviving animals display small size and hind limb ataxia at 13 days after birth. When held by their tails, they respond by stretching their hind legs pointing upwards. The diameter of their sciatic nerve is strongly reduced. At 3 days after birth, the number of Schwann cells is strongly reduced in sciatic nerve from mutant mice. Likewise, the number of sensory neurons in dorsal root ganglia is strongly reduced (PubMed:11559852). The initially reported gene disruption experiment finds that mice are born at the expected Mendelian rate, are fertile, and have no visible phenotype when young. However, after 4 months mutant mice develop skin alterations with severe ulcers on all extremities. Already before the onset of symptoms, mutant mice display decreased skin innervation and smaller dorsal root ganglia, plus impaired heat sensitivity (PubMed:11559852). [Isoform 2]: Minor isoform that lacks exon 3. The initial gene disruption experiment found a less pronounced phenotype than that reported in a later study (PubMed:1317267, PubMed:11559852). Both experiments disrupt expression of isoform 1 and NGF binding (PubMed:1317267, PubMed:11559852). The differences may be due to the presence of isoform 2; its expression is disrupted in the later experiment, but not in the initial experiment (PubMed:11559852). Sequence=AAD17943.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; beta-amyloid binding cellular glucose homeostasis death receptor activity neurotrophin TRKA receptor binding protein binding calmodulin binding nucleus nuclear envelope cytoplasm mitochondrion rough endoplasmic reticulum Golgi apparatus plasma membrane cell-cell junction intracellular protein transport apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process signal transduction Rho protein signal transduction multicellular organism development nervous system development axon guidance central nervous system development circadian rhythm response to wounding external side of plasma membrane cell surface regulation of gene expression regulation of cell death positive regulation of neuron projection development negative regulation of neuron projection development postsynaptic density coreceptor activity membrane integral component of membrane detection of temperature stimulus negative regulation of angiogenesis Rab GTPase binding sensory perception of pain nerve development coated vesicle cell differentiation growth cone hair follicle morphogenesis ubiquitin protein ligase binding positive regulation of myelination positive regulation of synaptic transmission, cholinergic dendrite membrane neuronal cell body membrane circadian regulation of gene expression cellular response to oxidative stress positive regulation of Rho protein signal transduction dorsal aorta development negative regulation of fibroblast growth factor receptor signaling pathway positive regulation of odontogenesis of dentin-containing tooth glucose homeostasis identical protein binding protein homodimerization activity cell projection positive regulation of apoptotic process negative regulation of apoptotic process neurotrophin binding dendritic spine perikaryon positive regulation of MAPK cascade negative regulation of neuron apoptotic process skin development macromolecular complex binding membrane raft clathrin-coated endocytic vesicle positive regulation of neuron differentiation positive regulation of fibroblast proliferation nerve growth factor binding rhythmic process neuron apoptotic process negative regulation of hair follicle development positive regulation of protein kinase B signaling negative regulation of mitochondrial depolarization positive regulation of synaptic transmission, glutamatergic negative regulation of dendritic spine development preprotein binding positive regulation of protein localization to nucleus positive regulation of neuron death positive regulation of pri-miRNA transcription from RNA polymerase II promoter negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis cellular response to beta-amyloid positive regulation of neural precursor cell proliferation regulation of reactive oxygen species metabolic process positive regulation of excitatory postsynaptic potential positive regulation of apoptotic signaling pathway uc007lam.1 uc007lam.2 uc007lam.3 uc007lam.4 uc007lam.5 
ENSMUST00000000127.6 Wnt3 ENSMUST00000000127.6 wingless-type MMTV integration site family, member 3 (from RefSeq NM_009521.3) ENSMUST00000000127.1 ENSMUST00000000127.2 ENSMUST00000000127.3 ENSMUST00000000127.4 ENSMUST00000000127.5 Int-4 NM_009521 P17553 WNT3_MOUSE Wnt-3 uc007lvs.1 uc007lvs.2 uc007lvs.3 uc007lvs.4 Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (By similarity). Required for normal gastrulation, formation of the primitive streak, and for the formation of the mesoderm during early embryogenesis (PubMed:10431240). Required for normal formation of the apical ectodermal ridge and for normal embryonic limb development (PubMed:12569130). Forms a soluble 1:1 complex with AFM; this prevents oligomerization and is required for prolonged biological activity. The complex with AFM may represent the physiological form in body fluids (By similarity). Interacts with PORCN (PubMed:10866835). Interacts with WLS (PubMed:19841259). P17553; O35082: Kl; NbExp=4; IntAct=EBI-1570853, EBI-1570828; Secreted, extracellular space, extracellular matrix Secreted Detected at low levels in adult brain (PubMed:2162045). Dorsal portion of the neural tube, dorsal ectoderm, the branchial arches, and the limb buds. Detected at 6.25 to 7.5 dpc in primitive streak, proximal epiblast, visceral endoderm and at the junction between the embryonic and extraembryonic ectoderm, with higher levels in the posterior region (PubMed:10431240, PubMed:19841259). Detected in the ectoderm at forelimb buds at 9.5 dpc (PubMed:12569130). Detected in all outgrowing limbs and in ectoderm flanking the limbs at least till 11.5 dpc (PubMed:12569130). Highly expressed in embryos at 11.5 and 12.5 dpc, with very low expression levels before and after this period (PubMed:2162045). Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Some mouse mammary tumors induced by mouse mammary tumor virus (MMTV) contain a provirus integrated into a host cell region which has been named Wnt3. Belongs to the Wnt family. cell morphogenesis mesoderm formation receptor binding frizzled binding protein binding extracellular region extracellular space cytoplasm endoplasmic reticulum lumen signal transduction cell-cell signaling multicellular organism development gamete generation axon guidance animal organ morphogenesis anterior/posterior axis specification dorsal/ventral axis specification anterior/posterior pattern specification positive regulation of gene expression Wnt signaling pathway protein domain specific binding positive regulation of Wnt signaling pathway neuron differentiation extracellular matrix embryonic forelimb morphogenesis embryonic hindlimb morphogenesis canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation canonical Wnt signaling pathway involved in osteoblast differentiation cell fate commitment receptor agonist activity anatomical structure formation involved in morphogenesis positive regulation of collateral sprouting in absence of injury negative regulation of axon extension involved in axon guidance regulation of neurogenesis Spemann organizer formation at the anterior end of the primitive streak canonical Wnt signaling pathway limb development limb bud formation head morphogenesis mammary gland epithelium development stem cell proliferation canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation canonical Wnt signaling pathway involved in stem cell proliferation uc007lvs.1 uc007lvs.2 uc007lvs.3 uc007lvs.4 
ENSMUST00000000129.14 Fer ENSMUST00000000129.14 FER tyrosine kinase, transcript variant 5 (from RefSeq NM_001403360.1) ENSMUST00000000129.1 ENSMUST00000000129.10 ENSMUST00000000129.11 ENSMUST00000000129.12 ENSMUST00000000129.13 ENSMUST00000000129.2 ENSMUST00000000129.3 ENSMUST00000000129.4 ENSMUST00000000129.5 ENSMUST00000000129.6 ENSMUST00000000129.7 ENSMUST00000000129.8 ENSMUST00000000129.9 FER_MOUSE Fert2 NM_001403360 P70451 Q61561 Q6PEE5 Q80UI3 Q8C481 Q9EQ77 uc289mib.1 uc289mib.2 Tyrosine-protein kinase that acts downstream of cell surface receptors for growth factors and plays a role in the regulation of the actin cytoskeleton, microtubule assembly, lamellipodia formation, cell adhesion, cell migration and chemotaxis. Acts downstream of EGFR, KIT, PDGFRA and PDGFRB. Acts downstream of EGFR to promote activation of NF- kappa-B and cell proliferation. May play a role in the regulation of the mitotic cell cycle. Plays a role in the insulin receptor signaling pathway and in activation of phosphatidylinositol 3-kinase. Acts downstream of the activated FCER1 receptor and plays a role in FCER1 (high affinity immunoglobulin epsilon receptor)-mediated signaling in mast cells. Plays a role in the regulation of mast cell degranulation. Plays a role in leukocyte recruitment and diapedesis in response to bacterial lipopolysaccharide (LPS). Phosphorylates CTTN, CTNND1, PTK2/FAK1, GAB1, PECAM1 and PTPN11. May phosphorylate JUP and PTPN1. Can phosphorylate STAT3 according to PubMed:10878010 and PubMed:19159681, but clearly plays a redundant role in STAT3 phosphorylation. According to PubMed:11134346, cells where wild type FER has been replaced by a kinase-dead mutant show no reduction in STAT3 phosphorylation. Phosphorylates TMF1. Isoform 3 lacks kinase activity. Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.2; Evidence= Activated by phosphatidic acid binding (By similarity). Activated by hydrogen peroxide (in vitro). Activated by reactive oxygen species (ROS). Homotrimer. Isoform 4 is a monomer, due to the absence of the N-terminal coiled coil domains. Interacts with CTNND1, EGFR, FLT3, PECAM1 and PDGFR. Interacts (via SH2 domain) with CTTN. Component of a complex that contains at least FER, CTTN and PTK2/FAK1 (By similarity). Interacts with IRS1 and PIK3R1. Interacts with STAT3. Interacts with PPP1CA and regulates its phosphorylation at 'Thr-320'. Interacts with JAK1. Interacts with HSP90; this stabilizes phosphorylated FER and protects FER against proteasomal degradation. Interacts with ARHGDIA, NRP1, PLEC and TMF1. Cytoplasm. Cytoplasm, cytoskeleton. Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cell projection Cell junction Membrane ; Peripheral membrane protein ; Cytoplasmic side Nucleus. Cytoplasm, cell cortex Note=Detected on microtubules in polarized and motile vascular endothelial cells. Colocalizes with F-actin at the cell cortex. Colocalizes with PECAM1 and CTNND1 at nascent cell-cell contacts (By similarity). Not detected in the nucleus, but detected in the nuclear area surrounding the chromosomes after breakdown of the nuclear envelope during mitosis (PubMed:11339827). [Isoform 4]: Nucleus. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=P70451-1; Sequence=Displayed; Name=2; IsoId=P70451-2; Sequence=VSP_021634; Name=3; Synonyms=iFer; IsoId=P70451-3; Sequence=VSP_041769, VSP_041770; Name=4; Synonyms=FerT, p51FerT; IsoId=P70451-4; Sequence=VSP_041766, VSP_041767, VSP_041768; Name=5; IsoId=P70451-5; Sequence=VSP_041768; Detected in liver and testis. Isoform 4 is detected only in testis (at protein level). Widely expressed. Up-regulated by insulin in myogenic cells (in vitro). The coiled coil domains mediate homooligomerization and are required for location at microtubules. The N-terminal region including the first coiled coil domain mediates interaction with phosphoinositide-containing membranes. Autophosphorylated. Polyubiquitinated; this leads to proteasomal degradation. No visible phenotype, and the mice are fertile. Mice have reduced CTTN phosphorylation. Mice lacking both Fps/Fes and Fer activity are viable and fertile, but produce slightly fewer pups per litter than normal. They display elevated levels of circulating neutrophils, erythrocytes and platelets, while other cell counts are normal. Belongs to the protein kinase superfamily. Tyr protein kinase family. Fes/fps subfamily. nucleotide binding microtubule cytoskeleton organization mitotic cell cycle nuclear chromatin regulation of protein phosphorylation actin binding protein kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity receptor binding epidermal growth factor receptor binding protein binding ATP binding nucleus cytoplasm cytosol cytoskeleton plasma membrane cell cortex protein phosphorylation chemotaxis cell adhesion signal transduction transmembrane receptor protein tyrosine kinase signaling pathway tyrosine phosphorylation of STAT protein cytoskeletal protein binding protein phosphatase 1 binding cell proliferation positive regulation of cell proliferation lipid binding regulation of lamellipodium assembly regulation of fibroblast migration actin cytoskeleton microtubule cytoskeleton membrane kinase activity phosphorylation cell migration transferase activity Rab GTPase binding peptidyl-tyrosine phosphorylation cytokine-mediated signaling pathway protein kinase binding lamellipodium cell junction cell differentiation positive regulation of cell migration positive regulation of actin filament polymerization extrinsic component of cytoplasmic side of plasma membrane actin cytoskeleton reorganization response to lipopolysaccharide cellular response to insulin stimulus negative regulation of mast cell activation involved in immune response substrate adhesion-dependent cell spreading cellular response to reactive oxygen species extracellular matrix-cell signaling cellular response to macrophage colony-stimulating factor stimulus response to platelet-derived growth factor insulin receptor signaling pathway via phosphatidylinositol 3-kinase peptidyl-tyrosine autophosphorylation Fc-epsilon receptor signaling pathway Kit signaling pathway regulation of epidermal growth factor receptor signaling pathway regulation of cell proliferation cell projection regulation of mast cell degranulation cell-cell adhesion mediated by cadherin gamma-catenin binding cadherin binding protein autophosphorylation platelet-derived growth factor receptor signaling pathway cell adhesion molecule binding diapedesis positive regulation of NF-kappaB transcription factor activity interleukin-6-mediated signaling pathway uc289mib.1 uc289mib.2 
ENSMUST00000000137.8 Actr2 ENSMUST00000000137.8 actin related protein 2, transcript variant 2 (from RefSeq NM_146243.2) Actr2 ENSMUST00000000137.1 ENSMUST00000000137.2 ENSMUST00000000137.3 ENSMUST00000000137.4 ENSMUST00000000137.5 ENSMUST00000000137.6 ENSMUST00000000137.7 NM_146243 Q5SW83 Q5SW83_MOUSE uc011xrw.1 uc011xrw.2 uc011xrw.3 Belongs to the actin family. ARP2 subfamily. nucleotide binding actin binding structural constituent of cytoskeleton ATP binding nucleus cytoplasm cytoskeleton Arp2/3 protein complex actin filament organization cytoskeletal protein binding associative learning postsynaptic density lamellipodium Arp2/3 complex-mediated actin nucleation site of double-strand break response to immobilization stress cellular response to trichostatin A response to ethanol positive regulation of transcription from RNA polymerase II promoter actin filament binding cilium assembly positive regulation of dendritic spine morphogenesis invadopodium postsynapse positive regulation of double-strand break repair via homologous recombination uc011xrw.1 uc011xrw.2 uc011xrw.3 
ENSMUST00000000153.9 Gna12 ENSMUST00000000153.9 guanine nucleotide binding protein, alpha 12 (from RefSeq NM_010302.2) ENSMUST00000000153.1 ENSMUST00000000153.2 ENSMUST00000000153.3 ENSMUST00000000153.4 ENSMUST00000000153.5 ENSMUST00000000153.6 ENSMUST00000000153.7 ENSMUST00000000153.8 GNA12_MOUSE Gna-12 NM_010302 P27600 uc009aih.1 uc009aih.2 uc009aih.3 Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:19151758, PubMed:21212405, PubMed:22609986). Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF12/LARG) (By similarity). GNA12-dependent Rho signaling subsequently regulates transcription factor AP-1 (activating protein-1) (PubMed:19151758, PubMed:21212405). GNA12-dependent Rho signaling also regulates protein phosphatese 2A activation causing dephosphorylation of its target proteins (By similarity). Promotes tumor cell invasion and metastasis by activating RhoA/ROCK signaling pathway and up-regulating pro- inflammatory cytokine production (By similarity). Inhibits CDH1- mediated cell adhesion in process independent from Rho activation (By similarity). Together with NAPA promotes CDH5 localization to plasma membrane (By similarity). May play a role in the control of cell migration through the TOR signaling cascade (PubMed:22609986). G proteins are composed of 3 units; alpha, beta and gamma (PubMed:16388592). The alpha chain contains the guanine nucleotide binding site (PubMed:16388592). Interacts with UBXD5 (By similarity). Interacts (in GTP-bound form) with PPP5C (via TPR repeats); activates PPP5C phosphatase activity and translocates PPP5C to the cell membrane (By similarity). Interacts with RGS22 (By similarity). Interacts (via N-terminus) with NAPA; the interaction promotes CDH5 localization to plasma membrane (By similarity). Interacts with CTNND1 (via N- terminus); the interaction regulates CDH1-mediated cell-cell adhesion (PubMed:15240885). Interacts with PPP2R1A; the interaction promotes protein phosphatase 2A activation causing dephosphorylation of MAPT (By similarity). Interacts (in GTP-bound form) with ARHGEF1 (PubMed:16388592). Interacts (in GTP-bound form) with ARHGEF11 (via RGS domain) (By similarity). Interacts (in GTP-bound form) with ARHGEF12 (via RGS domain) (PubMed:16388592). Cell membrane ; Lipid-anchor Lateral cell membrane ; Lipid-anchor Cytoplasm Note=CDH1 enhances cell membrane localization. Myristoylation of mutated N-terminus in place of original palmitoylation restores the transformation activity. Belongs to the G-alpha family. G(12) subfamily. nucleotide binding G-protein coupled receptor binding in utero embryonic development GTPase activity GTP binding cytoplasm heterotrimeric G-protein complex plasma membrane signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-modulating G-protein coupled receptor signaling pathway Rho protein signal transduction regulation of cell shape regulation of fibroblast migration membrane lateral plasma membrane guanyl nucleotide binding cell differentiation brush border membrane G-protein beta/gamma-subunit complex binding D5 dopamine receptor binding regulation of TOR signaling regulation of proteasomal ubiquitin-dependent protein catabolic process intracellular signal transduction response to drug embryonic digit morphogenesis metal ion binding uc009aih.1 uc009aih.2 uc009aih.3 
ENSMUST00000000163.13 Igsf5 ENSMUST00000000163.13 immunoglobulin superfamily, member 5, transcript variant 2 (from RefSeq NM_001177887.1) A0A0B4J1E1 A0A0B4J1E1_MOUSE ENSMUST00000000163.1 ENSMUST00000000163.10 ENSMUST00000000163.11 ENSMUST00000000163.12 ENSMUST00000000163.2 ENSMUST00000000163.3 ENSMUST00000000163.4 ENSMUST00000000163.5 ENSMUST00000000163.6 ENSMUST00000000163.7 ENSMUST00000000163.8 ENSMUST00000000163.9 Igsf5 NM_001177887 uc008acy.1 uc008acy.2 uc008acy.3 uc008acy.4 uc008acy.5 membrane integral component of membrane uc008acy.1 uc008acy.2 uc008acy.3 uc008acy.4 uc008acy.5 
ENSMUST00000000171.15 Pih1d2 ENSMUST00000000171.15 PIH1 domain containing 2 (from RefSeq NM_028300.2) ENSMUST00000000171.1 ENSMUST00000000171.10 ENSMUST00000000171.11 ENSMUST00000000171.12 ENSMUST00000000171.13 ENSMUST00000000171.14 ENSMUST00000000171.2 ENSMUST00000000171.3 ENSMUST00000000171.4 ENSMUST00000000171.5 ENSMUST00000000171.6 ENSMUST00000000171.7 ENSMUST00000000171.8 ENSMUST00000000171.9 NM_028300 PIHD2_MOUSE Q05CZ6 Q8CHR9 Q9CSM2 uc009pjz.1 uc009pjz.2 uc009pjz.3 uc009pjz.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8CHR9-1; Sequence=Displayed; Name=2; IsoId=Q8CHR9-2; Sequence=VSP_028718, VSP_028719; Belongs to the PIH1 family. Sequence=AAH19481.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence=; box C/D snoRNP assembly cytoplasm rRNA processing Ral GTPase binding R2TP complex uc009pjz.1 uc009pjz.2 uc009pjz.3 uc009pjz.4 
ENSMUST00000000175.6 Sdhd ENSMUST00000000175.6 succinate dehydrogenase complex, subunit D, integral membrane protein (from RefSeq NM_025848.3) A6H629 DHSD_MOUSE ENSMUST00000000175.1 ENSMUST00000000175.2 ENSMUST00000000175.3 ENSMUST00000000175.4 ENSMUST00000000175.5 NM_025848 Q3UX11 Q9CXV1 uc009pjv.1 uc009pjv.2 uc009pjv.3 uc009pjv.4 Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). Carbohydrate metabolism; tricarboxylic acid cycle. Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD. Mitochondrion inner membrane ; Multi-pass membrane protein Belongs to the CybS family. succinate dehydrogenase activity mitochondrion mitochondrial envelope mitochondrial inner membrane mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) tricarboxylic acid cycle mitochondrial electron transport, succinate to ubiquinone succinate dehydrogenase (ubiquinone) activity membrane integral component of membrane heme binding metal ion binding ubiquinone binding regulation of catecholamine secretion oxidation-reduction process cellular response to hypoxia uc009pjv.1 uc009pjv.2 uc009pjv.3 uc009pjv.4 
ENSMUST00000000186.9 Fgf23 ENSMUST00000000186.9 fibroblast growth factor 23 (from RefSeq NM_022657.5) ENSMUST00000000186.1 ENSMUST00000000186.2 ENSMUST00000000186.3 ENSMUST00000000186.4 ENSMUST00000000186.5 ENSMUST00000000186.6 ENSMUST00000000186.7 ENSMUST00000000186.8 FGF23_MOUSE NM_022657 Q9EPC2 uc009dvp.1 uc009dvp.2 uc009dvp.3 uc009dvp.4 This gene encodes a member of the fibroblast growth factor family. The encoded protein regulates phosphate homeostasis and vitamin D metabolism. Mutation of the related gene in humans causes autosomal dominant hypophosphatemic rickets (ADHR). The secreted protein is further cleaved into N- and C-terminal chains, which results in loss of function. [provided by RefSeq, Mar 2013]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK155687.1, AF263536.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Regulator of phosphate homeostasis (By similarity). Inhibits renal tubular phosphate transport by reducing SLC34A1 levels (By similarity). Acts directly on the parathyroid to decrease PTH secretion (By similarity). Regulator of vitamin-D metabolism (By similarity). Negatively regulates osteoblasts differentiation and matrix mineralization (By similarity). Up-regulates EGR1 expression in the presence of KL (PubMed:17086194). Interacts with FGFR1 (PubMed:17086194). Interacts with FGFR2, FGFR3 and FGFR4 (By similarity). Affinity between fibroblast growth factors (FGFs) and their receptors is increased by KL and heparan sulfate glycosaminoglycans that function as coreceptors (PubMed:17086194). Secreted Note=Secretion is dependent on O-glycosylation. Mainly expressed in the brain and thymus at low levels. In brain; preferentially expressed in the ventrolateral thalamic nucleus. Following secretion this protein is inactivated by cleavage into a N-terminal fragment and a C-terminal fragment. The processing is effected by proprotein convertases (By similarity). O-glycosylated at Thr-171 and Thr-178 by GALNT3 and glycosylation of Thr-178 requires previous glycosylation at Thr171. Glycosylation is necessary for secretion; it blocks processing by proprotein convertases when the O-glycan is alpha 2,6-sialylated. Competition between proprotein convertase cleavage and block of cleavage by O-glycosylation determines the level of secreted active FGF23 (By similarity). Phosphorylation at Ser-180 mediated by FAM20C slows down glycosylation at Thr-178 notably. Belongs to the heparin-binding growth factors family. MAPK cascade fibroblast growth factor receptor binding type 1 fibroblast growth factor receptor binding protein binding extracellular region extracellular space cell phosphate-containing compound metabolic process growth factor activity fibroblast growth factor receptor signaling pathway regulation of phosphate transport positive regulation of vitamin D 24-hydroxylase activity cell differentiation regulation of bone mineralization negative regulation of bone mineralization cellular phosphate ion homeostasis response to magnesium ion vitamin D metabolic process vitamin D catabolic process cellular response to leptin stimulus negative regulation of osteoblast differentiation positive regulation of transcription, DNA-templated negative regulation of hormone secretion phosphate ion homeostasis positive regulation of ERK1 and ERK2 cascade cellular response to vitamin D cellular response to interleukin-6 cellular response to parathyroid hormone stimulus positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway response to sodium phosphate uc009dvp.1 uc009dvp.2 uc009dvp.3 uc009dvp.4 
ENSMUST00000000187.7 Fgf6 ENSMUST00000000187.7 fibroblast growth factor 6 (from RefSeq NM_010204.1) ENSMUST00000000187.1 ENSMUST00000000187.2 ENSMUST00000000187.3 ENSMUST00000000187.4 ENSMUST00000000187.5 ENSMUST00000000187.6 FGF6_MOUSE Fgf-6 Hstf2 NM_010204 P21658 uc009dvo.1 uc009dvo.2 uc009dvo.3 Plays an important role in the regulation of cell proliferation, cell differentiation, angiogenesis and myogenesis, and is required for normal muscle regeneration. Interacts with FGFR1, FGFR2 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors (By similarity). Secreted, extracellular space. Embryos, adult muscles and adult testis. Belongs to the heparin-binding growth factors family. cartilage condensation angiogenesis extracellular region extracellular space multicellular organism development growth factor activity positive regulation of cell proliferation fibroblast growth factor receptor signaling pathway cell differentiation sarcolemma myoblast differentiation positive regulation of cell division uc009dvo.1 uc009dvo.2 uc009dvo.3 
ENSMUST00000000188.12 Ccnd2 ENSMUST00000000188.12 cyclin D2 (from RefSeq NM_009829.3) Ccnd2 ENSMUST00000000188.1 ENSMUST00000000188.10 ENSMUST00000000188.11 ENSMUST00000000188.2 ENSMUST00000000188.3 ENSMUST00000000188.4 ENSMUST00000000188.5 ENSMUST00000000188.6 ENSMUST00000000188.7 ENSMUST00000000188.8 ENSMUST00000000188.9 NM_009829 Q4FK45 Q4FK45_MOUSE uc009dvr.1 uc009dvr.2 uc009dvr.3 uc009dvr.4 Membrane Nucleus membrane Belongs to the cyclin family. Cyclin D subfamily. nucleus uc009dvr.1 uc009dvr.2 uc009dvr.3 uc009dvr.4 
ENSMUST00000000193.6 Ccl2 ENSMUST00000000193.6 C-C motif chemokine ligand 2 (from RefSeq NM_011333.3) Ccl2 ENSMUST00000000193.1 ENSMUST00000000193.2 ENSMUST00000000193.3 ENSMUST00000000193.4 ENSMUST00000000193.5 NM_011333 Q5SVU3 Q5SVU3_MOUSE uc007kmp.1 uc007kmp.2 uc007kmp.3 This gene is one of several cytokine genes clustered on chromosome 11. Chemokines are a superfamily of secreted proteins involved in immunoregulatory and inflammatory processes. The superfamily is divided into four subfamilies based on the arrangement of N-terminal cysteine residues of the mature peptide. This chemokine is a member of the CC subfamily which is characterized by two adjacent cysteine residues. This cytokine displays chemotactic activity for monocytes and memory T cells but not for neutrophils. The human ortholog has been implicated in the pathogenesis of diseases characterized by monocytic infiltrates, such as psoriasis, rheumatoid arthritis, and atherosclerosis. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK150937.1, AK153520.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Secreted Belongs to the intercrine beta (chemokine CC) family. response to hypoxia positive regulation of leukocyte mediated cytotoxicity positive regulation of endothelial cell proliferation leukocyte migration involved in inflammatory response chronic inflammatory response positive regulation of leukocyte migration positive regulation of cellular extravasation cytokine activity extracellular region extracellular space cytoplasm rough endoplasmic reticulum cellular calcium ion homeostasis chemotaxis inflammatory response immune response transforming growth factor beta receptor signaling pathway aging chemokine activity heparin binding glial cell migration response to heat response to mechanical stimulus response to gamma radiation positive regulation of macrophage chemotaxis response to activity cytokine-mediated signaling pathway positive regulation of cell-cell adhesion endocytic vesicle dendrite neutrophil chemotaxis animal organ regeneration response to lipopolysaccharide response to progesterone positive regulation of tumor necrosis factor production cellular response to insulin stimulus positive regulation of collagen biosynthetic process response to vitamin B3 response to tumor necrosis factor cellular response to drug cellular response to macrophage colony-stimulating factor stimulus cellular response to platelet-derived growth factor stimulus response to drug neuronal cell body response to amino acid perikaryon axon terminus C-fiber synapse response to ethanol positive regulation of cell adhesion response to antibiotic vascular endothelial growth factor receptor signaling pathway macrophage chemotaxis lymphocyte chemotaxis perinuclear region of cytoplasm positive regulation of synaptic transmission response to glucocorticoid maternal process involved in female pregnancy maternal process involved in parturition chemokine-mediated signaling pathway cellular response to lipopolysaccharide cellular response to retinoic acid cellular response to ATP cellular response to glucose stimulus cellular response to interferon-gamma cellular response to interleukin-1 cellular response to interleukin-6 cellular response to tumor necrosis factor cellular response to estradiol stimulus cellular response to fatty acid cellular response to lipoprotein particle stimulus cellular response to high density lipoprotein particle stimulus cellular response to dexamethasone stimulus positive regulation of monocyte chemotaxis positive regulation of wound healing positive regulation of protein targeting to membrane positive regulation of NMDA glutamate receptor activity response to cyclosporin A uc007kmp.1 uc007kmp.2 uc007kmp.3 
ENSMUST00000000194.4 Ccl12 ENSMUST00000000194.4 C-C motif chemokine ligand 12 (from RefSeq NM_011331.3) CCL12_MOUSE ENSMUST00000000194.1 ENSMUST00000000194.2 ENSMUST00000000194.3 Mcp5 NM_011331 Q62401 Q9QYD6 Scya12 uc007kms.1 uc007kms.2 uc007kms.3 Chemotactic factor that attracts eosinophils, monocytes, and lymphocytes but not neutrophils. Potent monocyte active chemokine that signals through CCR2. Involved in allergic inflammation and the host response to pathogens and may play a pivotal role during early stages of allergic lung inflammation. Homodimer. Secreted. Predominantly expressed in the lymph nodes and thymus. Also found in the salivary glands containing lymph nodes, breast, heart, lung, brain, small intestine, kidney and colon. By interferon gamma and lipopolysaccharides (LPS). The polymorphism in strain SJL/J may be associated with severity of clinical symptoms of experimental allergic encephalomyelitis, an animal model of multiple sclerosis, and susceptibility to the monophasic remitting/nonrelapsing form of the disease. Belongs to the intercrine beta (chemokine CC) family. MAPK cascade angiogenesis monocyte chemotaxis positive regulation of leukocyte migration cytokine activity extracellular region extracellular space chemotaxis inflammatory response immune response cytoskeleton organization G-protein coupled receptor signaling pathway chemokine activity regulation of cell shape cytokine-mediated signaling pathway neutrophil chemotaxis lipopolysaccharide-mediated signaling pathway CCR2 chemokine receptor binding negative regulation of glial cell apoptotic process protein kinase B signaling negative regulation of neuron apoptotic process positive regulation of GTPase activity astrocyte cell migration CCR chemokine receptor binding eosinophil chemotaxis macrophage chemotaxis lymphocyte chemotaxis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade negative regulation of leukocyte proliferation cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor cellular response to organic cyclic compound positive regulation of calcium ion import negative regulation of vascular endothelial cell proliferation negative regulation of G1/S transition of mitotic cell cycle positive regulation of endothelial cell apoptotic process negative regulation of natural killer cell chemotaxis uc007kms.1 uc007kms.2 uc007kms.3 
ENSMUST00000000199.8 Ncs1 ENSMUST00000000199.8 neuronal calcium sensor 1 (from RefSeq NM_019681.3) A2AJ84 ENSMUST00000000199.1 ENSMUST00000000199.2 ENSMUST00000000199.3 ENSMUST00000000199.4 ENSMUST00000000199.5 ENSMUST00000000199.6 ENSMUST00000000199.7 Freq NCS1_MOUSE NM_019681 Q8BNY6 uc008jdq.1 uc008jdq.2 uc008jdq.3 uc008jdq.4 Neuronal calcium sensor, regulator of G protein-coupled receptor phosphorylation in a calcium dependent manner. Directly regulates GRK1 (RHOK), but not GRK2 to GRK5. Can substitute for calmodulin (By similarity). Stimulates PI4KB kinase activity (By similarity). Involved in long-term synaptic plasticity through its interaction with PICK1 (By similarity). May also play a role in neuron differentiation through inhibition of the activity of N-type voltage- gated calcium channel (By similarity). Monomer (By similarity). Interacts with KCND2 (By similarity). Interacts in a calcium-independent manner with PI4KB (By similarity). This binding competes with CALN2/CABP7 binding to PI4KB (By similarity). Interacts in a calcium-dependent manner with PICK1 (via AH domain) (By similarity). Interacts with ARF1, ARF3, ARF5 and ARF6 (By similarity). Interacts with IL1RAPL1 (By similarity). Interacts with RIC8A; interaction is favored in the absence of Ca(2+) and myristoylation of NCS1 is not required (By similarity). Golgi apparatus Postsynaptic density Cytoplasm, perinuclear region Cytoplasm Cell membrane ; Peripheral membrane protein Membrane ipid-anchor Note=Associated with Golgi stacks. Post-synaptic densities of dendrites, and in the pre-synaptic nerve terminal at neuromuscular junctions. Binds 3 calcium ions via the second, third and fourth EF-hand. Belongs to the recoverin family. magnesium ion binding voltage-gated calcium channel activity calcium ion binding cytoplasm Golgi apparatus cytosol plasma membrane regulation of neuron projection development postsynaptic density membrane protein kinase binding cell junction axon dendrite dense core granule cytoplasmic vesicle intracellular membrane-bounded organelle calyx of Held synapse postsynaptic membrane positive regulation of exocytosis metal ion binding phosphatidylinositol-mediated signaling perinuclear region of cytoplasm positive regulation of synaptic transmission calcium ion transmembrane transport postsynapse glutamatergic synapse regulation of presynaptic cytosolic calcium ion concentration presynaptic cytosol postsynaptic cytosol voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels regulation of synaptic vesicle exocytosis uc008jdq.1 uc008jdq.2 uc008jdq.3 uc008jdq.4 
ENSMUST00000000201.7 Nalcn ENSMUST00000000201.7 sodium leak channel, non-selective (from RefSeq NM_177393.4) E9QLE4 E9QLE4_MOUSE ENSMUST00000000201.1 ENSMUST00000000201.2 ENSMUST00000000201.3 ENSMUST00000000201.4 ENSMUST00000000201.5 ENSMUST00000000201.6 NM_177393 Nalcn uc007vbq.1 uc007vbq.2 uc007vbq.3 ion channel activity cation channel activity ion transport membrane integral component of membrane ion transmembrane transport transmembrane transport cation transmembrane transport uc007vbq.1 uc007vbq.2 uc007vbq.3 
ENSMUST00000000206.4 Btbd17 ENSMUST00000000206.4 BTB domain containing 17 (from RefSeq NM_028055.4) BTBDH_MOUSE ENSMUST00000000206.1 ENSMUST00000000206.2 ENSMUST00000000206.3 NM_028055 Q9DB72 uc007mfr.1 uc007mfr.2 uc007mfr.3 Secreted molecular_function cellular_component extracellular region biological_process uc007mfr.1 uc007mfr.2 uc007mfr.3 
ENSMUST00000000208.13 Slfn4 ENSMUST00000000208.13 schlafen 4, transcript variant 1 (from RefSeq NM_011410.3) ENSMUST00000000208.1 ENSMUST00000000208.10 ENSMUST00000000208.11 ENSMUST00000000208.12 ENSMUST00000000208.2 ENSMUST00000000208.3 ENSMUST00000000208.4 ENSMUST00000000208.5 ENSMUST00000000208.6 ENSMUST00000000208.7 ENSMUST00000000208.8 ENSMUST00000000208.9 NM_011410 Q3UV66 Q3UV66_MOUSE Slfn4 uc007koj.1 uc007koj.2 The protein encoded by this gene belongs to the Schlafen family. All members of this family contain a Schlafen box domain that lies near an AAA domain. This protein belongs to the group 2 subset of Schlafen proteins, which are defined by a molecular weight between 58 kDa and 68 kDa and by the presence of a SWADL domain that contains the sequence Ser-Trp-Ala-Asp-Leu. In malignant melanoma cells, gene expression is up-regulated in response to interferon alpha. In bone marrow-derived macrophages, expression of this gene is induced during activation by Toll-like receptor agonists and repressed during macrophage colony-stimulating factor-mediated differentiation. Myelopoiesis is disrupted by constitutive overexpression in myeloid-lineage cells. A pseudogene of this gene is found on chromosome 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. molecular_function cellular_component response to bacterium uc007koj.1 uc007koj.2 
ENSMUST00000000219.10 Th ENSMUST00000000219.10 tyrosine hydroxylase (from RefSeq NM_009377.2) ENSMUST00000000219.1 ENSMUST00000000219.2 ENSMUST00000000219.3 ENSMUST00000000219.4 ENSMUST00000000219.5 ENSMUST00000000219.6 ENSMUST00000000219.7 ENSMUST00000000219.8 ENSMUST00000000219.9 NM_009377 P24529 TY3H_MOUSE uc009koi.1 uc009koi.2 uc009koi.3 Catalyzes the conversion of L-tyrosine to L- dihydroxyphenylalanine (L-Dopa), the rate-limiting step in the biosynthesis of cathecolamines, dopamine, noradrenaline, and adrenaline. Uses tetrahydrobiopterin and molecular oxygen to convert tyrosine to L-Dopa (By similarity). In addition to tyrosine, is able to catalyze the hydroxylation of phenylalanine and tryptophan with lower specificity (By similarity). Positively regulates the regression of retinal hyaloid vessels during postnatal development(PubMed:30936473). Reaction=(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tyrosine + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + L-dopa; Xref=Rhea:RHEA:18201, ChEBI:CHEBI:15379, ChEBI:CHEBI:15642, ChEBI:CHEBI:57504, ChEBI:CHEBI:58315, ChEBI:CHEBI:59560; EC=1.14.16.2; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:18202; Evidence=; Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; Inhibited in feedback fashion by the catecholamine neurotransmitters, especially by dopamine in competition with tetrahydrobiopterin. Phosphorylation of several Ser/Thr residues in the N-terminus regulates the catalytic activity. Ser-31 and Ser-40 are readily phosphorylated to activate the catalytic activity. A Cysteine modification induced by N-ethylmaleimide (NEM), inhibits tyrosine 3- monooxygenase activity through the modification of the Cys-177. Catecholamine biosynthesis; dopamine biosynthesis; dopamine from L-tyrosine: step 1/2. Homotetramer. Interacts (when phosphorylated at Ser-19) with YWHAG; one YWHAG dimer bounds to one TH tetramer this interaction may influence the phosphorylation and dephosphorylation of other sites. Cytoplasm, perinuclear region Nucleus Cell projection, axon Cytoplasm Cytoplasmic vesicle, secretory vesicle, synaptic vesicle Note=When phosphorylated at Ser-19 shows a nuclear distribution and when phsphorylated at Ser-31 as well at Ser-40 shows a cytosolic distribution (By similarity). Expressed in dopaminergic axons and axon terminals (PubMed:17296554). Expressed in the adrenal gland (PubMed:1674869). Expressed in the retina (PubMed:30936473). Expressed in the in the striatum (at protein level) (PubMed:17296554). Expressed in the retinal inner nuclear layer and outer nuclear layer at postnatal day 8 (P8) (PubMed:30936473). Expressed in retinal dopaminergic amacrine cells in the retina at P8 and P15 (PubMed:30936473). Phosphorylated on Ser-19, Ser-31 and Ser-40 by several protein kinases with different site specificities. Phosphorylation at Ser-31 and Ser-40 leads to an increase of TH activity. Phosphorylation at Ser- 40 activates the enzyme and also counteracts the feedback inhibition of TH by catecholamines (By similarity). Phosphorylation of Ser-19 and Ser-31 triggers the proteasomal degradation of TH through the ubiquitin-proteasome pathway (By similarity). Phosphorylation at Ser-31 facilitates transport of TH from the soma to the nerve terminals via the microtubule network (By similarity). Phosphorylation at Ser-19 induces the high-affinity binding to the 14-3-3 protein YWHAG; this interaction may influence the phosphorylation and dephosphorylation of other sites (By similarity). Ser-19 increases the phosphorylation at Ser-40 in a hierarchical manner, leading to increased activity (By similarity). Homozygotes deficient mice are deficient in catecholamines, and usually die around embryonic day 11.5-15.5 due to cardiac failure (PubMed:7715703). Increased number of persisting retinal hyaloid vessels due to loss of hyaloid vessel regression at P8 (PubMed:30936473). Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. response to hypoxia synaptic transmission, dopaminergic response to amphetamine monooxygenase activity tyrosine 3-monooxygenase activity iron ion binding nucleus cytoplasm mitochondrion smooth endoplasmic reticulum cytosol dopamine biosynthetic process from tyrosine fatty acid metabolic process sphingolipid metabolic process heart development visual perception sensory perception of sound learning memory mating behavior locomotory behavior regulation of heart contraction synaptic vesicle ferrous iron binding ferric iron binding aromatic amino acid family metabolic process response to water deprivation response to light stimulus response to herbicide response to salt stress animal organ morphogenesis cytoplasmic side of plasma membrane response to metal ion response to zinc ion multicellular organism aging response to organic cyclic compound response to activity aminergic neurotransmitter loading into synaptic vesicle glycoside metabolic process oxidoreductase activity amino acid binding oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen response to insecticide phthalate metabolic process oxygen binding enzyme binding protein domain specific binding cerebral cortex development axon dendrite cytoplasmic vesicle membrane cytoplasmic vesicle response to nutrient levels response to estradiol response to lipopolysaccharide isoquinoline alkaloid metabolic process melanosome membrane tetrahydrobiopterin binding response to nicotine social behavior dopamine binding cellular response to drug response to isolation stress response to immobilization stress neurotransmitter biosynthetic process terpene metabolic process dopamine biosynthetic process epinephrine biosynthetic process norepinephrine biosynthetic process catecholamine biosynthetic process eye photoreceptor cell development response to drug circadian sleep/wake cycle eating behavior neuron projection neuronal cell body terminal bouton perikaryon response to peptide hormone response to ethanol response to ether response to pyrethroid metal ion binding response to steroid hormone embryonic camera-type eye morphogenesis cognition response to corticosterone response to electrical stimulus phytoalexin metabolic process oxidation-reduction process response to growth factor cellular response to manganese ion cellular response to alkaloid cellular response to nicotine cellular response to glucose stimulus cellular response to growth factor stimulus uc009koi.1 uc009koi.2 uc009koi.3 
ENSMUST00000000221.6 Scnn1g ENSMUST00000000221.6 sodium channel, nonvoltage-gated 1 gamma (from RefSeq NM_011326.3) ENSMUST00000000221.1 ENSMUST00000000221.2 ENSMUST00000000221.3 ENSMUST00000000221.4 ENSMUST00000000221.5 NM_011326 Q9WU39 SCNNG_MOUSE uc009jnv.1 uc009jnv.2 uc009jnv.3 uc009jnv.4 This gene encodes the gamma subunit of the epithelial sodium channel, a member of the amiloride-sensitive sodium channel family of proteins. This channel regulates sodium homeostasis and blood pressure, by controlling sodium transport in the kidney, colon and lung. Proteolytic processing of the encoded protein results in the release of an inhibitory peptide and channel activation. Homozygous knockout mice for this gene exhibit perinatal lethality, likely due to excess serum potassium. [provided by RefSeq, Oct 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC021338.1, AF112187.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849385, SAMN00849387 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Plays an essential role in electrolyte and blood pressure homeostasis, but also in airway surface liquid homeostasis, which is important for proper clearance of mucus. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception. Activated by WNK1, WNK2, WNK3 and WNK4. Heterotrimer containing an alpha/SCNN1A, a beta/SCNN1B and a gamma/SCNN1G subunit. An additional delta/SCNN1D subunit exists only in some organisms and can replace the alpha/SCNN1A subunit to form an alternative channel with specific properties (Probable). Interacts with NEDD4; via the WW domains (PubMed:11244092, PubMed:15123669). Interacts with NEDD4L; via the WW domains (PubMed:12424229, PubMed:11244092, PubMed:15123669). Interacts with WWP1; via the WW domains (By similarity). Interacts with WWP2; via the WW domains. Interacts with the full-length immature form of PCSK9 (pro-PCSK9) (By similarity). Apical cell membrane ; Multi-pass membrane protein Note=Apical membrane of epithelial cells. Lung and kidney. ENaC cleavage by furin, and subsequently by prostasin (PRSS8), leads to a stepwise increase in the open probability of the channel as a result of release of the alpha and gamma subunit inhibitory tracts, respectively. Interaction of ENaC subunit SCNN1B with BPIFA1 protects ENaC against proteolytic activation. Phosphorylated on serine and threonine residues. Aldosterone and insulin increase the basal level of phosphorylation. Ubiquitinated; this targets individual subunits for endocytosis and proteasome-mediated degradation. Belongs to the amiloride-sensitive sodium channel (TC 1.A.6) family. SCNN1G subfamily. ion channel activity sodium channel activity nucleoplasm plasma membrane integral component of plasma membrane ion transport sodium ion transport external side of plasma membrane cell surface ligand-gated sodium channel activity membrane integral component of membrane apical plasma membrane sodium channel complex wound healing, spreading of epidermal cells sodium ion transmembrane transport WW domain binding multicellular organismal water homeostasis response to stimulus sensory perception of taste sodium ion homeostasis extracellular exosome uc009jnv.1 uc009jnv.2 uc009jnv.3 uc009jnv.4 
ENSMUST00000000253.6 Lhx2 ENSMUST00000000253.6 LIM homeobox protein 2, transcript variant 1 (from RefSeq NM_010710.5) ENSMUST00000000253.1 ENSMUST00000000253.2 ENSMUST00000000253.3 ENSMUST00000000253.4 ENSMUST00000000253.5 LHX2_MOUSE NM_010710 Q9Z0S2 uc008jnl.1 uc008jnl.2 uc008jnl.3 uc008jnl.4 Acts as a transcriptional activator. Stimulates the promoter of the alpha-glycoprotein gene. Transcriptional regulatory protein involved in the control of cell differentiation in developing lymphoid and neural cell types. Interacts (via LIM domains) with CITED2 (PubMed:10593900). Interacts with POU4F2 isoform 1 (PubMed:24643061). Nucleus LIM domains are necessary for transcription activation. RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding neural tube closure hair follicle development DNA binding chromatin binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated nervous system development axon guidance brain development mesoderm development transcription factor binding dorsal/ventral pattern formation telencephalon development olfactory bulb development telencephalon regionalization cerebral cortex development neurogenesis neuron differentiation sequence-specific DNA binding maintenance of epithelial cell apical/basal polarity negative regulation of gene expression, epigenetic positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding anatomical structure formation involved in morphogenesis axon extension negative regulation of neurogenesis retina development in camera-type eye positive regulation of neural precursor cell proliferation negative regulation of transcription regulatory region DNA binding uc008jnl.1 uc008jnl.2 uc008jnl.3 uc008jnl.4 
ENSMUST00000000254.14 Clec2g ENSMUST00000000254.14 C-type lectin domain family 2, member g, transcript variant 1 (from RefSeq NM_027562.4) CLC2G_MOUSE Clec2f Ddv10 ENSMUST00000000254.1 ENSMUST00000000254.10 ENSMUST00000000254.11 ENSMUST00000000254.12 ENSMUST00000000254.13 ENSMUST00000000254.2 ENSMUST00000000254.3 ENSMUST00000000254.4 ENSMUST00000000254.5 ENSMUST00000000254.6 ENSMUST00000000254.7 ENSMUST00000000254.8 ENSMUST00000000254.9 NM_027562 Ocilrp1 Q1AFZ6 Q3UUY2 Q80Z35 Q8BHH6 Q9D676 uc009eew.1 uc009eew.2 uc009eew.3 uc009eew.4 Inhibits osteoclast formation. Cell membrane ; Single-pass type II membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9D676-1; Sequence=Displayed; Name=2; IsoId=Q9D676-2; Sequence=VSP_030529; Detected in vagina, eye, tongue, stomach and spleen. Constitutively expressed in bone marrow cells. Up-regulated in vagina after 17-beta-estradiol treatment. Down-regulated after removal of ovaries. extracellular space plasma membrane membrane integral component of membrane carbohydrate binding negative regulation of osteoclast differentiation natural killer cell lectin-like receptor binding uc009eew.1 uc009eew.2 uc009eew.3 uc009eew.4 
ENSMUST00000000260.13 Gmpr ENSMUST00000000260.13 guanosine monophosphate reductase (from RefSeq NM_025508.5) ENSMUST00000000260.1 ENSMUST00000000260.10 ENSMUST00000000260.11 ENSMUST00000000260.12 ENSMUST00000000260.2 ENSMUST00000000260.3 ENSMUST00000000260.4 ENSMUST00000000260.5 ENSMUST00000000260.6 ENSMUST00000000260.7 ENSMUST00000000260.8 ENSMUST00000000260.9 GMPR1_MOUSE Gmpr1 NM_025508 Q9DCZ1 uc007qha.1 uc007qha.2 uc007qha.3 uc007qha.4 A similar gene in human encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. [provided by RefSeq, May 2015]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: AK009159.1, AK002326.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides. Reaction=IMP + NADP(+) + NH4(+) = GMP + 2 H(+) + NADPH; Xref=Rhea:RHEA:17185, ChEBI:CHEBI:15378, ChEBI:CHEBI:28938, ChEBI:CHEBI:57783, ChEBI:CHEBI:58053, ChEBI:CHEBI:58115, ChEBI:CHEBI:58349; EC=1.7.1.7; Evidence= Homotetramer. Belongs to the IMPDH/GMPR family. GuaC type 1 subfamily. catalytic activity GMP reductase activity purine nucleobase metabolic process purine nucleotide metabolic process nucleotide metabolic process purine ribonucleotide interconversion oxidoreductase activity metal ion binding oxidation-reduction process GMP reductase complex uc007qha.1 uc007qha.2 uc007qha.3 uc007qha.4 
ENSMUST00000000266.9 Ifi202b ENSMUST00000000266.9 interferon activated gene 202B, transcript variant 2 (from RefSeq NM_011940.2) E9QLD9 ENSMUST00000000266.1 ENSMUST00000000266.2 ENSMUST00000000266.3 ENSMUST00000000266.4 ENSMUST00000000266.5 ENSMUST00000000266.6 ENSMUST00000000266.7 ENSMUST00000000266.8 IFI2_MOUSE Ifi202 Ifi202a Ifi202b NM_011940 P15091 Q38JF1 Q7TMN6 Q8VEL7 Q9R002 uc011wwx.1 uc011wwx.2 uc011wwx.3 DNA-binding protein involved in innate immune response and has anti-inflammatory activity (PubMed:19131592, PubMed:23850291, PubMed:23567559). Inhibits caspase activation in response to cytosolic DNA by preventing activation of the AIM2 inflammasome, probably by sequestering cytoplasmic DNA and preventing its being bound by AIM2 (PubMed:19131592, PubMed:23850291, PubMed:23567559). Also inhibits activation of the AIM2 inflammasome via a direct interaction with AIM2, which prevents the interaction between AIM2 and PYCARD and formation of the AIM2 inflammasome (PubMed:23850291). Binds double-stranded DNA (dsDNA) in the cytosol (PubMed:19131592, PubMed:23850291, PubMed:23567559, PubMed:24419611). Has anti-apoptotic effects due to inhibition of the transcriptional activity of TP53/p53 (PubMed:16670293). Inhibits the transcriptional activity of several transcription factors, including NF-kappa-B p50 and p65, FOS, JUN, E2F1, E2F4, MYOD1 and myogenin (PubMed:8524315). Homomultimer; homotetramerizes (via HIN-200 domain 2), enhancing affinity for double-stranded DNA (dsDNA) (PubMed:9821952, PubMed:23850291). Interacts (via HIN-200 domain 2) with AIM2 (via HIN- 200 domain); preventing activation of the AIM2 inflammasome (PubMed:23850291). Binds to several transcription factors, including NF-kappa-B p50 (NFKB1) and p65 (RELA), FOS, JUN, E2F1, E2F4, MYOD1 and myogenin (PubMed:8524315). Also binds TP53/p53, the hypophosphorylated, growth-inhibitory form of the retinoblastoma protein and the p53- binding protein 1 (TP53BP1) (PubMed:8910340, PubMed:16670293). Q9R002; P13405: Rb1; NbExp=7; IntAct=EBI-3043899, EBI-971782; Q9R002; P06400: RB1; Xeno; NbExp=5; IntAct=EBI-3043899, EBI-491274; Cytoplasm cleus Note=Accumulates first in the cytoplasm, and is translocated to the nucleus after a delay, where it is primarily chromatin-associated. By beta interferon (PubMed:2477366, PubMed:14764608). By IL6 in splenocytes (at protein level) (PubMed:14764608). The HIN-200 domain 1 mediates non-specific double-stranded DNA (dsDNA)-binding via electrostatic interactions: it recognizes both strands of DNA (PubMed:23567559, PubMed:24419611). The HIN-200 domain 2 mediates homotetramerization and interaction with AIM2 (PubMed:23850291). Phosphorylated. NZB mice express 10 to 100 fold more Ifi202 in spleen than B6 or NZW mice (PubMed:11567633). This could account for the high susceptibility of NZB mice to systemic lupus (PubMed:11567633). Belongs to the HIN-200 family. activation of innate immune response immune system process DNA binding double-stranded DNA binding protein binding nucleus nucleolus cytoplasm inflammatory response response to bacterium positive regulation of interleukin-1 beta production cellular response to interferon-beta negative regulation of cysteine-type endopeptidase activity involved in apoptotic process innate immune response negative regulation of innate immune response uc011wwx.1 uc011wwx.2 uc011wwx.3 
ENSMUST00000000275.10 Glra3 ENSMUST00000000275.10 glycine receptor, alpha 3 subunit, transcript variant 1 (from RefSeq NM_080438.4) ENSMUST00000000275.1 ENSMUST00000000275.2 ENSMUST00000000275.3 ENSMUST00000000275.4 ENSMUST00000000275.5 ENSMUST00000000275.6 ENSMUST00000000275.7 ENSMUST00000000275.8 ENSMUST00000000275.9 GLRA3_MOUSE NM_080438 Q7TSQ2 Q91XP5 uc009lsn.1 uc009lsn.2 uc009lsn.3 Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed:15131310, PubMed:20978350). Channel characteristics depend on the subunit composition; heteropentameric channels display faster channel closure (By similarity). Plays an important role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents (PubMed:15131310). Contributes to increased pain perception in response to increased prostaglandin E2 levels (PubMed:15131310). Plays a role in the regulation of breathing rhythm, especially of the duration of the postinspiratory phase (PubMed:20978350). Plays a role in cellular responses to ethanol (By similarity). Reaction=chloride(in) = chloride(out); Xref=Rhea:RHEA:29823, ChEBI:CHEBI:17996; Evidence= Inhibited by prostaglandin E2, probably via PKA- mediated phosphorylation at Ser-379 (PubMed:15131310). Homopentamer (in vitro) (By similarity). Heteropentamer composed of GLRA3 and GLRB. Both homopentamers and heteropentamers form functional ion channels, but their characteristics are subtly different (By similarity). Postsynaptic cell membrane ulti-pass membrane protein Synapse rikaryon Cell projection, dendrite Cell membrane ; Multi-pass membrane protein Note=Partially colocalizes with GPHN that is known to mediate receptor clustering at postsynaptic membranes. Detected in brainstem, also in neurons that control rhythmic breathing (PubMed:20978350). Detected in superficial laminae of the dorsal horn of the thoracic spinal cord (PubMed:15131310). Detected in dentate gyrus in hippocampus, especially in stratum granulare (PubMed:19723286). Detected in the inner plexiform layer in the retina (at protein level) (PubMed:12975813). Detected in midbrain, thalamus, brain cortex, hippocampus, and at lower levels in cerebellum (PubMed:19723286). The N-terminal domain carries structural determinants essential for agonist and antagonist binding. The channel pore is formed by pentameric assembly of the second transmembrane domain from all five subunits. The cytoplasmic loop is an important determinant of channel inactivation kinetics. Phosphorylated by PKA; this causes down-regulation of channel activity. Dephosphorylated in response to activation of HTR1A signaling; this increases channel activity (PubMed:20978350). Mutant mice are born at the expected Mendelian rate, appear normal and are fertile. They do not display notable alterations in motor coordination and startle response, or other neuromotor defects. Glycinergic postsynaptic inhibitory currents in spinal cord appear unchanged, but are not inhibited by prostaglandin E2, contrary to what is observed with wild-type. Basal nociception is unchanged, but contrary to wild-type, mutant mice do not display increased sensitivity to pain after prostaglandin E2 injection. Likewise, they show a more rapid decrease of the increased pain sensitivity caused by agents that cause local inflammation, such as subcutaneous zymosan injection (PubMed:15131310). Mutant mice display altered phrenic nerve activity, resulting in an irregular breathing rhythm that affects especially the duration of the postinspiratory phase. Contrary to wild-type, their respiratory rhythm is not accelerated by serotonin (PubMed:20978350). The alpha subunit binds strychnine. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA3 sub-subfamily. transmembrane signaling receptor activity ion channel activity extracellular ligand-gated ion channel activity chloride channel activity plasma membrane integral component of plasma membrane ion transport chloride transport signal transduction neuropeptide signaling pathway chemical synaptic transmission membrane integral component of membrane glycine binding extracellular-glycine-gated chloride channel activity glycine-gated chloride channel complex transmitter-gated ion channel activity glycine-gated chloride ion channel activity cell junction dendrite ion transmembrane transport chloride channel complex regulation of membrane potential cell projection neuron projection response to amino acid perikaryon synapse postsynaptic membrane metal ion binding neurological system process protein homooligomerization synaptic transmission, glycinergic excitatory postsynaptic potential cellular response to amino acid stimulus cellular response to zinc ion cellular response to ethanol glutamate receptor clustering glutamatergic synapse GABA-ergic synapse integral component of postsynaptic specialization membrane chloride transmembrane transport regulation of synaptic vesicle exocytosis uc009lsn.1 uc009lsn.2 uc009lsn.3 
ENSMUST00000000287.9 Scpep1 ENSMUST00000000287.9 serine carboxypeptidase 1 (from RefSeq NM_029023.3) ENSMUST00000000287.1 ENSMUST00000000287.2 ENSMUST00000000287.3 ENSMUST00000000287.4 ENSMUST00000000287.5 ENSMUST00000000287.6 ENSMUST00000000287.7 ENSMUST00000000287.8 NM_029023 Q920A5 Q9D625 RISC_MOUSE Risc uc007kvx.1 uc007kvx.2 uc007kvx.3 uc007kvx.4 May be involved in vascular wall and kidney homeostasis. Secreted Belongs to the peptidase S10 family. carboxypeptidase activity serine-type carboxypeptidase activity extracellular region cytosol proteolysis peptidase activity hydrolase activity retinoic acid metabolic process negative regulation of blood pressure proteolysis involved in cellular protein catabolic process uc007kvx.1 uc007kvx.2 uc007kvx.3 uc007kvx.4 
ENSMUST00000000291.9 Mnt ENSMUST00000000291.9 max binding protein (from RefSeq NM_010813.3) ENSMUST00000000291.1 ENSMUST00000000291.2 ENSMUST00000000291.3 ENSMUST00000000291.4 ENSMUST00000000291.5 ENSMUST00000000291.6 ENSMUST00000000291.7 ENSMUST00000000291.8 MNT_MOUSE NM_010813 O08789 P97349 Q6GTJ3 Rox uc011xzb.1 uc011xzb.2 uc011xzb.3 Binds DNA as a heterodimer with MAX and represses transcription. Binds to the canonical E box sequence 5'-CACGTG-3' and, with higher affinity, to 5'-CACGCG-3'. Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a homodimer or a heterodimer with MAX. Nucleus. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated cell aging protein dimerization activity regulation of cell cycle negative regulation of apoptotic signaling pathway uc011xzb.1 uc011xzb.2 uc011xzb.3 
ENSMUST00000000299.14 Itgb2 ENSMUST00000000299.14 integrin beta 2, transcript variant 1 (from RefSeq NM_008404.5) ENSMUST00000000299.1 ENSMUST00000000299.10 ENSMUST00000000299.11 ENSMUST00000000299.12 ENSMUST00000000299.13 ENSMUST00000000299.2 ENSMUST00000000299.3 ENSMUST00000000299.4 ENSMUST00000000299.5 ENSMUST00000000299.6 ENSMUST00000000299.7 ENSMUST00000000299.8 ENSMUST00000000299.9 Itgb2 NM_008404 Q542I8 Q542I8_MOUSE uc007fvv.1 uc007fvv.2 uc007fvv.3 Cell membrane ingle-pass type I membrane protein Membrane raft ; Single-pass type I membrane protein Membrane ; Single-pass type I membrane protein Belongs to the integrin beta chain family. leukocyte migration involved in inflammatory response plasma membrane cell adhesion leukocyte cell-cell adhesion cell-matrix adhesion integrin-mediated signaling pathway aging integrin complex cell surface membrane integral component of membrane natural killer cell activation signaling receptor activity endothelial cell migration macromolecular complex binding cellular extravasation positive regulation of nitric oxide biosynthetic process positive regulation of angiogenesis protein heterodimerization activity cell adhesion molecule binding positive regulation of NF-kappaB transcription factor activity cell-cell adhesion uc007fvv.1 uc007fvv.2 uc007fvv.3 
ENSMUST00000000304.14 Hddc2 ENSMUST00000000304.14 HD domain containing 2, transcript variant 8 (from RefSeq NR_184419.1) ENSMUST00000000304.1 ENSMUST00000000304.10 ENSMUST00000000304.11 ENSMUST00000000304.12 ENSMUST00000000304.13 ENSMUST00000000304.2 ENSMUST00000000304.3 ENSMUST00000000304.4 ENSMUST00000000304.5 ENSMUST00000000304.6 ENSMUST00000000304.7 ENSMUST00000000304.8 ENSMUST00000000304.9 HDDC2_MOUSE NR_184419 Q3SXD3 Q9CV20 uc007etq.1 uc007etq.2 uc007etq.3 Catalyzes the dephosphorylation of the nucleoside 5'- monophosphates deoxyadenosine monophosphate (dAMP), deoxycytidine monophosphate (dCMP), deoxyguanosine monophosphate (dGMP) and deoxythymidine monophosphate (dTMP). Reaction=a 2'-deoxyribonucleoside 5'-phosphate + H2O = a 2'- deoxyribonucleoside + phosphate; Xref=Rhea:RHEA:36167, ChEBI:CHEBI:15377, ChEBI:CHEBI:18274, ChEBI:CHEBI:43474, ChEBI:CHEBI:65317; EC=3.1.3.89; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Name=Co(2+); Xref=ChEBI:CHEBI:48828; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Note=Binds 2 divalent metal cations (By similarity). Shows activity with Mn(2+), Co(2+) and Mg(2+) but shows no activity with Zn(2+) (By similarity). Homodimer. Belongs to the HDDC2 family. mitochondrion dephosphorylation uc007etq.1 uc007etq.2 uc007etq.3 
ENSMUST00000000305.7 Tpd52l1 ENSMUST00000000305.7 tumor protein D52-like 1, transcript variant 2 (from RefSeq NM_009413.2) ENSMUST00000000305.1 ENSMUST00000000305.2 ENSMUST00000000305.3 ENSMUST00000000305.4 ENSMUST00000000305.5 ENSMUST00000000305.6 NM_009413 O54818 TPD53_MOUSE uc007ets.1 uc007ets.2 uc007ets.3 Forms a homodimer or heterodimer with other members of the family. Belongs to the TPD52 family. G2/M transition of mitotic cell cycle cytoplasm early endosome identical protein binding protein homodimerization activity positive regulation of MAP kinase activity positive regulation of JNK cascade protein heterodimerization activity perinuclear region of cytoplasm positive regulation of apoptotic signaling pathway uc007ets.1 uc007ets.2 uc007ets.3 
ENSMUST00000000310.14 Pemt ENSMUST00000000310.14 phosphatidylethanolamine N-methyltransferase, transcript variant 4 (from RefSeq NM_001290013.1) ENSMUST00000000310.1 ENSMUST00000000310.10 ENSMUST00000000310.11 ENSMUST00000000310.12 ENSMUST00000000310.13 ENSMUST00000000310.2 ENSMUST00000000310.3 ENSMUST00000000310.4 ENSMUST00000000310.5 ENSMUST00000000310.6 ENSMUST00000000310.7 ENSMUST00000000310.8 ENSMUST00000000310.9 NM_001290013 PEMT_MOUSE Pempt Pemt Pemt2 Q3UZN8 Q61907 Q7TNW6 Q8R0I1 uc056yld.1 uc056yld.2 uc056yld.3 Catalyzes the three sequential steps of the methylation pathway for the biosynthesis of phosphatidylcholine, a critical and essential component for membrane structure (PubMed:9371769) (Probable). Uses S-adenosylmethionine (S-adenosyl-L-methionine, SAM or AdoMet) as the methyl group donor for the methylation of phosphatidylethanolamine (1,2-diacyl-sn-glycero-3-phosphoethanolamine, PE) to phosphatidylmonomethylethanolamine (1,2-diacyl-sn-glycero-3-phospho-N- methylethanolamine, PMME), PMME to phosphatidyldimethylethanolamine (1,2-diacyl-sn-glycero-3-phospho-N,N-dimethylethanolamine, PDME), and PDME to phosphatidylcholine (1,2-diacyl-sn-glycero-3-phosphocholine, PC), producing S-adenosyl-L-homocysteine in each step (PubMed:9371769). Reaction=1,2-diacyl-sn-glycero-3-phospho-N-methylethanolamine + S- adenosyl-L-methionine = 1,2-diacyl-sn-glycero-3-phospho-N,N- dimethylethanolamine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:32735, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:64572, ChEBI:CHEBI:64573; EC=2.1.1.71; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:32736; Evidence=; Reaction=1,2-diacyl-sn-glycero-3-phospho-N,N-dimethylethanolamine + S- adenosyl-L-methionine = a 1,2-diacyl-sn-glycero-3-phosphocholine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:32739, ChEBI:CHEBI:15378, ChEBI:CHEBI:57643, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:64572; EC=2.1.1.71; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:32740; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + S-adenosyl-L- methionine = 1,2-diacyl-sn-glycero-3-phospho-N-methylethanolamine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:11164, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:64573, ChEBI:CHEBI:64612; EC=2.1.1.17; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11165; Evidence=; Reaction=1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + S- adenosyl-L-methionine = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3- phospho-N-methylethanolamine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:70619, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74986, ChEBI:CHEBI:85679; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70620; Evidence=; Reaction=1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phospho-N- methylethanolamine + S-adenosyl-L-methionine = 1,2-di-(9Z- octadecenoyl)-sn-glycero-3-phospho-N,N-dimethylethanolamine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:46112, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:85679, ChEBI:CHEBI:85680; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46113; Evidence=; Reaction=1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phospho-N,N- dimethylethanolamine + S-adenosyl-L-methionine = 1,2-di-(9Z- octadecenoyl)-sn-glycero-3-phosphocholine + H(+) + S-adenosyl-L- homocysteine; Xref=Rhea:RHEA:70623, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74669, ChEBI:CHEBI:85680; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70624; Evidence=; Reaction=1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3- phosphoethanolamine + S-adenosyl-L-methionine = 1,2-di-(9Z,12Z- octadecadienoyl)-sn-glycero-3-phospho-N-methylethanolamine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:70739, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:172403, ChEBI:CHEBI:189848; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70740; Evidence=; Reaction=1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phospho-N- methylethanolamine + S-adenosyl-L-methionine = 1,2-di-(9Z,12Z- octadecadienoyl)-sn-glycero-3-phospho-N,N-dimethylethanolamine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:70743, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:189848, ChEBI:CHEBI:189849; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70744; Evidence=; Reaction=1,2-di-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phospho-N,N- dimethylethanolamine + S-adenosyl-L-methionine = 1,2-di-(9Z,12Z- octadecadienoyl)-sn-glycero-3-phosphocholine + H(+) + S-adenosyl-L- homocysteine; Xref=Rhea:RHEA:70747, ChEBI:CHEBI:15378, ChEBI:CHEBI:42027, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:189849; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70748; Evidence=; Reaction=1,2-di-(9Z,12Z,15Z-octadecatrienoyl)-sn-glycero-3- phosphoethanolamine + S-adenosyl-L-methionine = 1,2-di-(9Z,12Z,15Z- octadecatrienoyl)-sn-glycero-3-phospho-N-methylethanolamine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:70751, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:189858, ChEBI:CHEBI:189859; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70752; Evidence=; Reaction=1,2-di-(9Z,12Z,15Z-octadecatrienoyl)-sn-glycero-3-phospho-N- methylethanolamine + S-adenosyl-L-methionine = 1,2-di-(9Z,12Z,15Z- octadecatrienoyl)-sn-glycero-3-phospho-N,N-dimethylethanolamine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:70755, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:189859, ChEBI:CHEBI:189860; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70756; Evidence=; Reaction=1,2-di-(9Z,12Z,15Z-octadecatrienoyl)-sn-glycero-3-phospho-N,N- dimethylethanolamine + S-adenosyl-L-methionine = 1,2-di-(9Z,12Z,15Z- octadecatrienoyl)-sn-glycero-3-phosphocholine + H(+) + S-adenosyl-L- homocysteine; Xref=Rhea:RHEA:70759, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:86161, ChEBI:CHEBI:189860; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70760; Evidence=; Reaction=1-hexadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn- glycero-3-phosphoethanolamine + S-adenosyl-L-methionine = 1- hexadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3- phospho-N-methylethanolamine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:70763, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:78261, ChEBI:CHEBI:189861; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70764; Evidence=; Reaction=1-hexadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn- glycero-3-phospho-N-methylethanolamine + S-adenosyl-L-methionine = 1- hexadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycero-3- phospho-N,N-dimethylethanolamine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:70767, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:189861, ChEBI:CHEBI:189862; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70768; Evidence=; Reaction=1-hexadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn- glycero-3-phospho-N,N-dimethylethanolamine + S-adenosyl-L-methionine = 1-hexadecanoyl-2-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn- glycero-3-phosphocholine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:70771, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74963, ChEBI:CHEBI:189862; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70772; Evidence=; Phospholipid metabolism; phosphatidylcholine biosynthesis. Endoplasmic reticulum membrane ; Multi-pass membrane protein Mitochondrion membrane ; Multi-pass membrane protein Note=Found in endoplasmic reticulum where most PEMT activity is generated and in mitochondria. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q61907-1; Sequence=Displayed; Name=2; IsoId=Q61907-2; Sequence=VSP_053224; Expressed in liver (at protein level). Severe liver pathology rapidly occurs in knockout mice after 3-days withdrawal of dietary choline, which might occur during starvation, pregnancy or lactation, and may die after 4-5 days (PubMed:9765216). Homocysteine plasma content in knockouts is 50 percent less of the content in wild type mice (PubMed:12482759). Belongs to the class VI-like SAM-binding methyltransferase superfamily. PEMT/PEM2 methyltransferase family. Sequence=AAQ01190.1; Type=Frameshift; Evidence=; phosphatidyl-N-methylethanolamine N-methyltransferase activity blastocyst hatching phosphatidylethanolamine N-methyltransferase activity mitochondrion mitochondrial envelope endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process glycerophospholipid metabolic process phosphatidylcholine biosynthetic process sphingomyelin biosynthetic process methyltransferase activity negative regulation of cell proliferation phosphatidylethanolamine binding phospholipid biosynthetic process S-adenosylmethionine-dependent methyltransferase activity membrane integral component of membrane transferase activity brush border membrane mitochondrial membrane methylation response to vitamin sarcolemma response to drug S-adenosylhomocysteine metabolic process S-adenosylmethionine metabolic process positive regulation of lipoprotein metabolic process phosphatidyl-N-dimethylethanolamine N-methyltransferase activity uc056yld.1 uc056yld.2 uc056yld.3 
ENSMUST00000000312.12 Cdh1 ENSMUST00000000312.12 cadherin 1 (from RefSeq NM_009864.3) A0A0R4IZW5 A0A0R4IZW5_MOUSE Cdh1 ENSMUST00000000312.1 ENSMUST00000000312.10 ENSMUST00000000312.11 ENSMUST00000000312.2 ENSMUST00000000312.3 ENSMUST00000000312.4 ENSMUST00000000312.5 ENSMUST00000000312.6 ENSMUST00000000312.7 ENSMUST00000000312.8 ENSMUST00000000312.9 NM_009864 uc009ngi.1 uc009ngi.2 uc009ngi.3 uc009ngi.4 This gene encodes E-cadherin, a calcium-dependent cell adhesion molecule that functions in the establishment and maintenance of epithelial cell morphology during embryongenesis and adulthood. The encoded preproprotein undergoes proteolytic processing to generate a mature protein. Targeted mutations disrupting binding of calcium to the encoded protein in mice cause death in utero due to failed blastocyst and trophectoderm formation. This gene is located adjacent to a related cadherin gene on chromosome 8. [provided by RefSeq, Oct 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK076369.1, X06115.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cadherins are calcium-dependent cell adhesion proteins. E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on APP C99 and C83 production. Cell membrane ingle-pass type I membrane protein Golgi apparatus, trans-Golgi network Membrane ; Single-pass type I membrane protein calcium ion binding cytoplasm trans-Golgi network plasma membrane cell-cell adherens junction cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules synapse assembly beta-catenin binding response to toxic substance cytoplasmic side of plasma membrane response to organic substance regulation of gene expression actin cytoskeleton membrane integral component of membrane lateral plasma membrane catenin complex flotillin complex pituitary gland development negative regulation of cell-cell adhesion lamellipodium cell junction negative regulation of cell migration ankyrin binding cortical actin cytoskeleton neuron projection development GTPase activating protein binding adherens junction organization positive regulation of protein import into nucleus response to drug identical protein binding apical junction complex gamma-catenin binding positive regulation of transcription, DNA-templated perinuclear region of cytoplasm cell adhesion molecule binding cellular response to lithium ion cellular response to indole-3-methanol protein localization to plasma membrane cell-cell adhesion postsynapse glutamatergic synapse regulation of protein catabolic process at postsynapse, modulating synaptic transmission uc009ngi.1 uc009ngi.2 uc009ngi.3 uc009ngi.4 
ENSMUST00000000314.13 Cdh4 ENSMUST00000000314.13 cadherin 4, transcript variant 1 (from RefSeq NM_009867.4) CADH4_MOUSE ENSMUST00000000314.1 ENSMUST00000000314.10 ENSMUST00000000314.11 ENSMUST00000000314.12 ENSMUST00000000314.2 ENSMUST00000000314.3 ENSMUST00000000314.4 ENSMUST00000000314.5 ENSMUST00000000314.6 ENSMUST00000000314.7 ENSMUST00000000314.8 ENSMUST00000000314.9 NM_009867 P39038 uc008ohv.1 uc008ohv.2 uc008ohv.3 uc008ohv.4 uc008ohv.5 This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. The encoded protein is involved in retinal angiogenesis during development where it plays a crucial role in the endothelial-astrocyte interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]. Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. May play an important role in retinal development. Cell membrane; Single-pass type I membrane protein. Distributed widely in mouse tissues with high levels present in brain, skeletal muscle and thymus. Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain. cell morphogenesis calcium ion binding plasma membrane integral component of plasma membrane cell-cell adherens junction cell-cell junction assembly cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules axon guidance cytoskeletal protein binding cell surface membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules catenin complex adherens junction organization protein homodimerization activity cell-cell adhesion mediated by cadherin cadherin binding positive regulation of axon extension metal ion binding cell-cell adhesion uc008ohv.1 uc008ohv.2 uc008ohv.3 uc008ohv.4 uc008ohv.5 
ENSMUST00000000326.12 Bcl6b ENSMUST00000000326.12 B cell CLL/lymphoma 6, member B (from RefSeq NM_007528.3) Bcl6b ENSMUST00000000326.1 ENSMUST00000000326.10 ENSMUST00000000326.11 ENSMUST00000000326.2 ENSMUST00000000326.3 ENSMUST00000000326.4 ENSMUST00000000326.5 ENSMUST00000000326.6 ENSMUST00000000326.7 ENSMUST00000000326.8 ENSMUST00000000326.9 NM_007528 Q5BKP3 Q5BKP3_MOUSE uc007juc.1 uc007juc.2 uc007juc.3 uc007juc.4 Nucleus nucleic acid binding uc007juc.1 uc007juc.2 uc007juc.3 uc007juc.4 
ENSMUST00000000327.13 Clec10a ENSMUST00000000327.13 C-type lectin domain family 10, member A, transcript variant 1 (from RefSeq NM_001204252.1) Clec10a ENSMUST00000000327.1 ENSMUST00000000327.10 ENSMUST00000000327.11 ENSMUST00000000327.12 ENSMUST00000000327.2 ENSMUST00000000327.3 ENSMUST00000000327.4 ENSMUST00000000327.5 ENSMUST00000000327.6 ENSMUST00000000327.7 ENSMUST00000000327.8 ENSMUST00000000327.9 F8WHB7 F8WHB7_MOUSE NM_001204252 uc007jty.1 uc007jty.2 uc007jty.3 uc007jty.4 membrane integral component of membrane carbohydrate binding uc007jty.1 uc007jty.2 uc007jty.3 uc007jty.4 
ENSMUST00000000329.9 Alox12 ENSMUST00000000329.9 arachidonate 12-lipoxygenase, transcript variant 1 (from RefSeq NM_007440.5) Alox12p ENSMUST00000000329.1 ENSMUST00000000329.2 ENSMUST00000000329.3 ENSMUST00000000329.4 ENSMUST00000000329.5 ENSMUST00000000329.6 ENSMUST00000000329.7 ENSMUST00000000329.8 LOX12_MOUSE NM_007440 P39655 Q8BHG4 uc007juj.1 uc007juj.2 uc007juj.3 Catalyzes the regio and stereo-specific incorporation of molecular oxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species (PubMed:8188678, PubMed:11256953, PubMed:25293588). Mainly converts arachidonate ((5Z,8Z,11Z,14Z)- eicosatetraenoate) to the specific bioactive lipid (12S)- hydroperoxyeicosatetraenoate/(12S)-HPETE (PubMed:8188678, PubMed:11256953). Through the production of bioactive lipids like (12S)-HPETE it regulates different biological processes including platelet activation (PubMed:9501222). It can also catalyze the epoxidation of double bonds of polyunsaturated fatty acids such as (14S)-hydroperoxy-docosahexaenoate/(14S)-HPDHA resulting in the formation of (13S,14S)-epoxy-DHA. Furthermore, it may participate in the sequential oxidations of DHA ((4Z,7Z,10Z,13Z,16Z,19Z)- docosahexaenoate) to generate specialized pro-resolving mediators (SPMs) like resolvin D5 ((7S,17S)-diHPDHA) and (7S,14S)-diHPDHA, that actively down-regulate the immune response and have anti-aggregation properties with platelets (By similarity). An additional function involves a multistep process by which it transforms leukotriene A4/LTA4 into the bioactive lipids lipoxin A4/LXA4 and lipoxin B4/LXB4, both are vasoactive and LXA4 may regulate neutrophil function via occupancy of specific recognition sites (By similarity). Can also peroxidize linoleate ((9Z,12Z)-octadecadienoate) to (13S)- hydroperoxyoctadecadienoate/ (13S-HPODE) (PubMed:11256953). Due to its role in regulating both the expression of the vascular endothelial growth factor (VEGF, an angiogenic factor involved in the survival and metastasis of solid tumors) and the expression of integrin beta-1 (known to affect tumor cell migration and proliferation), it can be regarded as protumorigenic. Important for cell survival, as it may play a role not only in proliferation but also in the prevention of apoptosis in vascular smooth muscle cells (By similarity). Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = (12S)-hydroperoxy- (5Z,8Z,10E,14Z)-eicosatetraenoate; Xref=Rhea:RHEA:10428, ChEBI:CHEBI:15379, ChEBI:CHEBI:32395, ChEBI:CHEBI:57444; EC=1.13.11.31; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:10429; Evidence=; Reaction=(9Z,12Z)-octadecadienoate + O2 = (13S)-hydroperoxy-(9Z,11E)- octadecadienoate; Xref=Rhea:RHEA:22780, ChEBI:CHEBI:15379, ChEBI:CHEBI:30245, ChEBI:CHEBI:57466; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22781; Evidence=; Reaction=2 H2O + 2 leukotriene A4 + O2 = 2 lipoxin A4; Xref=Rhea:RHEA:48584, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:57463, ChEBI:CHEBI:67026; Evidence=; Reaction=2 H2O + 2 leukotriene A4 + O2 = 2 lipoxin B4; Xref=Rhea:RHEA:48588, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:57463, ChEBI:CHEBI:67031; Evidence=; Reaction=(5Z,8Z,11Z)-eicosatrienoate + O2 = (12S)-hydroperoxy- (5Z,8Z,10E)-eicosatrienoate; Xref=Rhea:RHEA:41324, ChEBI:CHEBI:15379, ChEBI:CHEBI:78043, ChEBI:CHEBI:78046; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41325; Evidence=; Reaction=(8Z,11Z,14Z)-eicosatrienoate + O2 = (12S)-hydroperoxy- (8Z,10E,14Z)-eicosatrienoate; Xref=Rhea:RHEA:41328, ChEBI:CHEBI:15379, ChEBI:CHEBI:71589, ChEBI:CHEBI:78047; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41329; Evidence=; Reaction=(4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate + O2 = (14S)- hydroperoxy-(4Z,7Z,10Z,12E,16Z,19Z)-docosahexaenoate; Xref=Rhea:RHEA:41332, ChEBI:CHEBI:15379, ChEBI:CHEBI:77016, ChEBI:CHEBI:78048; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41333; Evidence=; Reaction=(7S)-hydroperoxy-(4Z,8E,10Z,13Z,16Z,19Z)-docosahexaenoate + O2 = (7S,14S)-dihydroperoxy-(4Z,8E,10Z,12E,16Z,19Z)-docosahexaenoate; Xref=Rhea:RHEA:64724, ChEBI:CHEBI:15379, ChEBI:CHEBI:156049, ChEBI:CHEBI:156082; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:64725; Evidence=; Reaction=(7S)-hydroperoxy-(4Z,8E,10Z,13Z,16Z,19Z)-docosahexaenoate + O2 = (7S,17S)-dihydroperoxy-(4Z,8E,10Z,13Z,15E,19Z)-docosahexaenoate; Xref=Rhea:RHEA:64728, ChEBI:CHEBI:15379, ChEBI:CHEBI:140349, ChEBI:CHEBI:156049; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:64729; Evidence=; Reaction=(14R,15S)-epoxy-(5Z,8Z,11Z)-eicosatrienoate + O2 = (12S)- hydroperoxy-(14R,15S)-epoxy-(5Z,8Z,10E)-eicosatrienoate; Xref=Rhea:RHEA:50276, ChEBI:CHEBI:15379, ChEBI:CHEBI:131965, ChEBI:CHEBI:132063; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50277; Evidence=; Reaction=(14S,15R)-epoxy-(5Z,8Z,11Z)-eicosatrienoate + O2 = (12S)- hydroperoxy-(14S,15R)-epoxy-(5Z,8Z,10E)-eicosatrienoate; Xref=Rhea:RHEA:50284, ChEBI:CHEBI:15379, ChEBI:CHEBI:131964, ChEBI:CHEBI:132065; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50285; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = (15S)-hydroperoxy- (5Z,8Z,11Z,13E)-eicosatetraenoate; Xref=Rhea:RHEA:16869, ChEBI:CHEBI:15379, ChEBI:CHEBI:32395, ChEBI:CHEBI:57446; EC=1.13.11.33; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16870; Evidence=; Reaction=(14S)-hydroperoxy-(4Z,7Z,10Z,12E,16Z,19Z)-docosahexaenoate = (13S,14S)-epoxy-(4Z,7Z,9E,11E,16Z,19Z)-docosahexaenoate + H2O; Xref=Rhea:RHEA:53532, ChEBI:CHEBI:15377, ChEBI:CHEBI:78048, ChEBI:CHEBI:131958; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:53533; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-alanine + O2 = N-(15S)- hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoyl-alanine; Xref=Rhea:RHEA:50184, ChEBI:CHEBI:15379, ChEBI:CHEBI:132071, ChEBI:CHEBI:132077; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50185; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-alanine + O2 = N-(12S)- hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoyl-alanine; Xref=Rhea:RHEA:50172, ChEBI:CHEBI:15379, ChEBI:CHEBI:132071, ChEBI:CHEBI:132074; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50173; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-gamma-aminobutanoate + O2 = N-(15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoyl-gamma- aminobutanoate; Xref=Rhea:RHEA:50180, ChEBI:CHEBI:15379, ChEBI:CHEBI:132072, ChEBI:CHEBI:132078; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50181; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-gamma-aminobutanoate + O2 = N-(12S)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoyl-gamma- aminobutanoate; Xref=Rhea:RHEA:50176, ChEBI:CHEBI:15379, ChEBI:CHEBI:132072, ChEBI:CHEBI:132075; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50177; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-glycine + O2 = N-(15S)- hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoyl-glycine; Xref=Rhea:RHEA:50188, ChEBI:CHEBI:15379, ChEBI:CHEBI:59002, ChEBI:CHEBI:132076; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50189; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-glycine + O2 = N-(12S)- hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoyl-glycine; Xref=Rhea:RHEA:50168, ChEBI:CHEBI:15379, ChEBI:CHEBI:59002, ChEBI:CHEBI:132073; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50169; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-taurine + O2 = N-(12S)- hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoyl-taurine; Xref=Rhea:RHEA:50160, ChEBI:CHEBI:15379, ChEBI:CHEBI:132060, ChEBI:CHEBI:132061; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50161; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-taurine + O2 = N-(15S)- hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoyl-taurine; Xref=Rhea:RHEA:50156, ChEBI:CHEBI:15379, ChEBI:CHEBI:132060, ChEBI:CHEBI:132062; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50157; Evidence=; Reaction=(5Z,8Z,11Z,14Z,17Z)-eicosapentaenoate + O2 = (12S)- hydroperoxy-(5Z,8Z,10E,14Z,17Z)-eicosapentaenoate; Xref=Rhea:RHEA:48704, ChEBI:CHEBI:15379, ChEBI:CHEBI:58562, ChEBI:CHEBI:90772; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48705; Evidence=; Name=Fe cation; Xref=ChEBI:CHEBI:24875; Note=Binds 1 Fe cation per subunit.; Activated by EGF. Arachidonic acid conversion is inhibited by (13S,14S)-epoxy-(4Z,7Z,9E,11E,16Z,19Z)-docosahexaenoate (13S,14S-epoxy-DHA) (By similarity). Arachidonate 12-lipoxygenase activity is decreased when PH decreases from 7.4 to 6 (PubMed:11256953). Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis. Cytoplasm, cytosol Membrane Note=Membrane association is stimulated by EGF. Found primarily in platelets and in microsomal and cytosolic fractions of the epidermis (at protein level). Mice are fertile and appear to exhibit no gross abnormalities. However, they display increased aggregation of platelets in response to ADP. They also display a mild basal transepidermal water loss. Belongs to the lipoxygenase family. arachidonate 12-lipoxygenase activity iron ion binding cytoplasm cytosol lipid metabolic process fatty acid metabolic process aging positive regulation of gene expression negative regulation of muscle cell apoptotic process positive regulation of cell death membrane linoleate 13S-lipoxygenase activity oxidoreductase activity oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen hydrolase activity arachidonic acid metabolic process lipoxygenase pathway fatty acid oxidation unsaturated fatty acid metabolic process sarcolemma positive regulation of apoptotic process negative regulation of apoptotic process positive regulation of cysteine-type endopeptidase activity involved in apoptotic process positive regulation of blood vessel endothelial cell migration linoleic acid metabolic process metal ion binding hepoxilin-epoxide hydrolase activity positive regulation of smooth muscle cell proliferation arachidonate 15-lipoxygenase activity hepoxilin biosynthetic process dioxygenase activity positive regulation of mitochondrial depolarization oxidation-reduction process establishment of skin barrier cellular response to lipid negative regulation of platelet aggregation leukotriene A4 metabolic process lipoxin A4 biosynthetic process lipoxin B4 biosynthetic process uc007juj.1 uc007juj.2 uc007juj.3 
ENSMUST00000000342.3 Ccl11 ENSMUST00000000342.3 C-C motif chemokine ligand 11 (from RefSeq NM_011330.3) CCL11_MOUSE ENSMUST00000000342.1 ENSMUST00000000342.2 NM_011330 P48298 Scya11 uc007kmr.1 uc007kmr.2 uc007kmr.3 uc007kmr.4 In response to the presence of allergens, this protein directly promotes the accumulation of eosinophils (a prominent feature of allergic inflammatory reactions), but not lymphocytes, macrophages or neutrophils (PubMed:7568052, PubMed:8574847). Binds to CCR3 (By similarity). Secreted Expressed constitutively in the thymus. Expression inducible in the lung (type I alveolar epithelial cells), intestine, heart, spleen, kidney. By interferon gamma and lipopolysaccharides (LPS) (PubMed:7568052). By interleukin-13 (IL13) (PubMed:15647285). Belongs to the intercrine beta (chemokine CC) family. positive regulation of endothelial cell proliferation chronic inflammatory response monocyte chemotaxis mast cell chemotaxis cytokine activity extracellular region extracellular space chemotaxis inflammatory response immune response cytoskeleton organization actin filament organization G-protein coupled receptor signaling pathway learning or memory chemokine activity regulation of cell shape positive regulation of cell migration neutrophil chemotaxis positive regulation of actin filament polymerization killing of cells of other organism CCR3 chemokine receptor binding response to interleukin-13 positive regulation of GTPase activity positive regulation of angiogenesis protein dimerization activity receptor agonist activity CCR chemokine receptor binding eosinophil chemotaxis lymphocyte chemotaxis negative regulation of neurogenesis branching involved in mammary gland duct morphogenesis mammary duct terminal end bud growth chemokine-mediated signaling pathway ERK1 and ERK2 cascade positive regulation of ERK1 and ERK2 cascade response to interleukin-4 cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor modulation of age-related behavioral decline uc007kmr.1 uc007kmr.2 uc007kmr.3 uc007kmr.4 
ENSMUST00000000348.15 Rtca ENSMUST00000000348.15 RNA 3'-terminal phosphate cyclase (from RefSeq NM_025517.3) ENSMUST00000000348.1 ENSMUST00000000348.10 ENSMUST00000000348.11 ENSMUST00000000348.12 ENSMUST00000000348.13 ENSMUST00000000348.14 ENSMUST00000000348.2 ENSMUST00000000348.3 ENSMUST00000000348.4 ENSMUST00000000348.5 ENSMUST00000000348.6 ENSMUST00000000348.7 ENSMUST00000000348.8 ENSMUST00000000348.9 NM_025517 Q3TVV2 Q9D7H3 RTCA_MOUSE Rpc1 RtcA Rtcd1 uc008rcd.1 uc008rcd.2 uc008rcd.3 uc008rcd.4 uc008rcd.5 Catalyzes the conversion of 3'-phosphate to a 2',3'-cyclic phosphodiester at the end of RNA (By similarity). The mechanism of action of the enzyme occurs in 3 steps: (A) adenylation of the enzyme by ATP; (B) transfer of adenylate to an RNA-N3'P to produce RNA- N3'PP5'A; (C) and attack of the adjacent 2'-hydroxyl on the 3'- phosphorus in the diester linkage to produce the cyclic end product (By similarity). Likely functions in some aspects of cellular RNA processing (PubMed:25961792). Function plays an important role in regulating axon regeneration by inhibiting central nervous system (CNS) axon regeneration following optic nerve injury (PubMed:25961792). Reaction=a 3'-end 3'-phospho-ribonucleotide-RNA + ATP = a 3'-end 2',3'- cyclophospho-ribonucleotide-RNA + AMP + diphosphate; Xref=Rhea:RHEA:23976, Rhea:RHEA-COMP:10463, Rhea:RHEA-COMP:10464, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:83062, ChEBI:CHEBI:83064, ChEBI:CHEBI:456215; EC=6.5.1.4; Evidence=; Nucleus, nucleoplasm Detected in retinal ganglion cells (RGCs) (at protein level). Belongs to the RNA 3'-terminal cyclase family. Type 1 subfamily. nucleotide binding catalytic activity RNA-3'-phosphate cyclase activity ATP binding nucleus nucleoplasm RNA processing ligase activity uc008rcd.1 uc008rcd.2 uc008rcd.3 uc008rcd.4 uc008rcd.5 
ENSMUST00000000349.11 Dbt ENSMUST00000000349.11 dihydrolipoamide branched chain transacylase E2, transcript variant 1 (from RefSeq NM_010022.5) ENSMUST00000000349.1 ENSMUST00000000349.10 ENSMUST00000000349.2 ENSMUST00000000349.3 ENSMUST00000000349.4 ENSMUST00000000349.5 ENSMUST00000000349.6 ENSMUST00000000349.7 ENSMUST00000000349.8 ENSMUST00000000349.9 NM_010022 ODB2_MOUSE P53395 Q3TMF5 uc008rcg.1 uc008rcg.2 uc008rcg.3 uc008rcg.4 The branched-chain alpha-keto dehydrogenase complex catalyzes the overall conversion of alpha-keto acids to acyl-CoA and CO(2). It contains multiple copies of three enzymatic components: branched-chain alpha-keto acid decarboxylase (E1), lipoamide acyltransferase (E2) and lipoamide dehydrogenase (E3). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acyl groups that are generated by the branched-chain alpha-keto acid decarboxylase component. Reaction=2-methylpropanoyl-CoA + N(6)-[(R)-dihydrolipoyl]-L-lysyl- [protein] = CoA + N(6)-[(R)-S(8)-2-methylpropanoyldihydrolipoyl]-L- lysyl-[protein]; Xref=Rhea:RHEA:18865, Rhea:RHEA-COMP:10475, Rhea:RHEA-COMP:10497, ChEBI:CHEBI:57287, ChEBI:CHEBI:57338, ChEBI:CHEBI:83100, ChEBI:CHEBI:83142; EC=2.3.1.168; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:18866; Evidence=; Name=(R)-lipoate; Xref=ChEBI:CHEBI:83088; Evidence=; Note=Binds 1 lipoyl cofactor covalently. ; Forms a 24-polypeptide structural core with octahedral symmetry that represents the E2 component of the branched-chain alpha- ketoacid dehydrogenase (BCKDH) complex. The BCKDH complex is composed of three major building blocks E1, E2 and E3. It is organized around E2, a 24-meric cubic core composed of DBT, to which are associated 6 to 12 copies of E1, and approximately 6 copies of the dehydrogenase E3, a DLD dimer (By similarity). Interacts with PPM1K with a 24:1 stoichiometry; the N-terminal region (residues 49-61) of PPM1K and C- terminal linker of the lipoyl domain of DBT/E2 (residues 145-160) are critical for this interaction whereas the lipoyl prosthetic group is dispensable. This interaction requires colocalization in mitochondria (By similarity). PPM1K competes with BCKDK for binding to DBT; this interaction is modulated by branched-chain alpha-keto acids (BCKAs). At steady state, BCKDH holoenzyme preferentially binds BCKDK and BCKDHA is phosphorylated. In response to high levels of BCKAs, BCKDK is replaced by PPM1K leading to BCKDHA dephosphorylation (By similarity). Mitochondrion matrix Belongs to the 2-oxoacid dehydrogenase family. cytoplasm mitochondrion mitochondrial matrix acetyltransferase activity transferase activity transferase activity, transferring acyl groups lipoic acid binding ubiquitin protein ligase binding mitochondrial nucleoid dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity uc008rcg.1 uc008rcg.2 uc008rcg.3 uc008rcg.4 
ENSMUST00000000356.10 Dazap2 ENSMUST00000000356.10 DAZ associated protein 2 (from RefSeq NM_011873.2) DAZP2_MOUSE ENSMUST00000000356.1 ENSMUST00000000356.2 ENSMUST00000000356.3 ENSMUST00000000356.4 ENSMUST00000000356.5 ENSMUST00000000356.6 ENSMUST00000000356.7 ENSMUST00000000356.8 ENSMUST00000000356.9 NM_011873 O88675 Prtb Q3UVI4 Q9DCP9 uc007xrt.1 uc007xrt.2 uc007xrt.3 In unstressed cells, promotes SIAH1-mediated polyubiquitination and degradation of the serine/threonine-protein kinase HIPK2, probably by acting as a loading factor that potentiates complex formation between HIPK2 and ubiquitin ligase SIAH1 (By similarity). In response to DNA damage, localizes to the nucleus following phosphorylation by HIPK2 and modulates the expression of a subset of TP53/p53 target genes by binding to TP53 at target gene promoters (By similarity). This limits the expression of a number of cell death-mediating TP53 target genes, reducing DNA damage-induced cell death (By similarity). Enhances the binding of transcription factor TCF7L2/TCF4, a Wnt signaling pathway effector, to the promoters of target genes (PubMed:19304756). Plays a role in stress granule formation (By similarity). Interacts with SOX6 (PubMed:14530442). Interacts with DAZ1 and DAZL (By similarity). Interacts with IL17RB (By similarity). May interact with FAM168B (By similarity). Interacts with INCA1 (By similarity). Interacts with EIF4G1 and EIF4G2 (By similarity). Interacts (via PPAY motif) with NEDD4 (via WW domains) (By similarity). Interacts with transcription factor TCF4; the interaction results in localization of DAZAP2 to the nucleus (By similarity). Interacts with transcription factors TCF7 and TCF7L1 (By similarity). Interacts with transcription factor LEF1 (PubMed:19304756). Interacts with serine/threonine-protein kinase HIPK2; the interaction results in phosphorylation of DAZAP2 which causes localization of DAZAP2 to the nucleus, reduces interaction of DAZAP2 with HIPK2 and prevents DAZAP2- dependent degradation of HIPK2 (By similarity). Interacts with ubiquitin ligase SIAH1; the interaction is decreased following phosphorylation of DAZAP2 by HIPK2 (By similarity). Interacts with TP53; the interaction is triggered by DNA damage (By similarity). Cytoplasm Nucleus Nucleus speckle Nucleus, nuclear body Cytoplasm, Stress granule Note=Predominantly nuclear in macrophages, stimulation of IL17RB with its ligand IL17E induces accumulation in the cytoplasm (By similarity). Predominantly cytoplasmic when unphosphorylated and localizes to the nucleus following phosphorylation by HIPK2 (By similarity). Localizes to stress granules under cellular stress conditions (By similarity). Widely expressed (PubMed:14530442, PubMed:19304756). Highly expressed in brain (PubMed:10373015). Between 11.5 dpc and 12.5 dpc it is specifically expressed in the developing heart. From 13.5 dpc, expression in the heart disappears, while it becomes strongly expressed in the brain. Up- regulated during adhesion and differentiation to beating cardiomyocytes. By serum stimulation. Ubiquitinated by SMURF2, leading to proteasomal degradation. Ubiquitinated by NEDD4, leading to proteasomal degradation. Following DNA damage, phosphorylated by HIPK2 which promotes DAZAP2 localization to the nucleus, reduces interaction of DAZAP2 with HIPK2 and SIAH1, and prevents DAZAP2-dependent ubiquitination of HIPK2 by E3 ubiquitin-protein ligase SIAH1 and subsequent HIPK2 proteasomal degradation. protein binding nucleus transcription factor complex cytoplasm nuclear speck receptor tyrosine kinase binding mitogen-activated protein kinase kinase kinase binding macromolecular complex identical protein binding protein serine/threonine kinase activator activity WW domain binding positive regulation of protein serine/threonine kinase activity uc007xrt.1 uc007xrt.2 uc007xrt.3 
ENSMUST00000000365.3 Mcts1 ENSMUST00000000365.3 malignant T cell amplified sequence 1, transcript variant 1 (from RefSeq NM_026902.4) ENSMUST00000000365.1 ENSMUST00000000365.2 MCTS1_MOUSE NM_026902 Q3UUI6 Q9DB27 uc009tad.1 uc009tad.2 uc009tad.3 Anti-oncogene that plays a role in cell cycle regulation; decreases cell doubling time and anchorage-dependent growth; shortens the duration of G1 transit time and G1/S transition. When constitutively expressed, increases CDK4 and CDK6 kinases activity and CCND1/cyclin D1 protein level, as well as G1 cyclin/CDK complex formation. Involved in translation initiation; promotes recruitment of aminoacetyled initiator tRNA to P site of 40S ribosomes. Can promote release of deacylated tRNA and mRNA from recycled 40S subunits following ABCE1-mediated dissociation of post-termination ribosomal complexes into subunits. Plays a role as translation enhancer; recruits the density-regulated protein/DENR and binds to the cap complex of the 5'-terminus of mRNAs, subsequently altering the mRNA translation profile; up-regulates protein levels of BCL2L2, TFDP1, MRE11, CCND1 and E2F1, while mRNA levels remains constant. Hyperactivates DNA damage signaling pathway; increased gamma-irradiation-induced phosphorylation of histone H2AX, and induces damage foci formation. Increases the overall number of chromosomal abnormalities such as larger chromosomes formation and multiple chromosomal fusions when overexpressed in gamma- irradiated cells. May play a role in promoting lymphoid tumor development: lymphoid cell lines overexpressing MCTS1 exhibit increased growth rates and display increased protection against apoptosis. May contribute to the pathogenesis and progression of breast cancer via promotion of angiogenesis through the decline of inhibitory THBS1/thrombospondin-1, and inhibition of apoptosis. Involved in the process of proteasome degradation to down-regulate Tumor suppressor p53/TP53 in breast cancer cell; Positively regulates phosphorylation of MAPK1 and MAPK3 (By similarity). Interacts (via PUA domain) with DENR. Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9DB27-1; Sequence=Displayed; Name=2; IsoId=Q9DB27-2; Sequence=VSP_034857; The PUA RNA-binding domain is critical for cap binding, but not sufficient for translation enhancer function. MCT1 N-terminal region is required to enhance translation possibly through interaction with other proteins (By similarity). Phosphorylation is critical for stabilization and promotion of cell proliferation. Belongs to the MCTS1 family. formation of translation preinitiation complex translation reinitiation RNA binding translation initiation factor activity cytoplasm cytosol plasma membrane translation translational initiation cellular response to DNA damage stimulus cell cycle cytosolic small ribosomal subunit ribosome disassembly regulation of growth IRES-dependent viral translational initiation uc009tad.1 uc009tad.2 uc009tad.3 
ENSMUST00000000369.4 Rem1 ENSMUST00000000369.4 rad and gem related GTP binding protein 1 (from RefSeq NM_009047.5) ENSMUST00000000369.1 ENSMUST00000000369.2 ENSMUST00000000369.3 NM_009047 O35929 REM1_MOUSE Rem uc008nfw.1 uc008nfw.2 uc008nfw.3 Promotes endothelial cell sprouting and actin cytoskeletal reorganization (By similarity). May be involved in angiogenesis. May function in Ca(2+) signaling. In vitro, interacts with calmodulin in a calcium-dependent manner (By similarity). Interacts 14-3-3 family members including YWHAE, YWHAH, YWHAQ, YWHAZ in a phosphorylation-dependent manner. High expression in cardiac muscle. Moderate expression in lung, skeletal muscle and kidney. Low levels in spleen and brain. Repressed by lipopolysaccharide stimulation. Belongs to the small GTPase superfamily. RGK family. nucleotide binding GTPase activity calcium channel regulator activity calmodulin binding GTP binding plasma membrane signal transduction biological_process membrane negative regulation of high voltage-gated calcium channel activity uc008nfw.1 uc008nfw.2 uc008nfw.3 
ENSMUST00000000384.8 Trappc10 ENSMUST00000000384.8 trafficking protein particle complex 10 (from RefSeq NM_001081055.2) ENSMUST00000000384.1 ENSMUST00000000384.2 ENSMUST00000000384.3 ENSMUST00000000384.4 ENSMUST00000000384.5 ENSMUST00000000384.6 ENSMUST00000000384.7 F8VQF9 NM_001081055 Q3TLI0 Q811H4 TPC10_MOUSE Tmem1 uc007fxm.1 uc007fxm.2 uc007fxm.3 uc007fxm.4 Specific subunit of the TRAPP (transport protein particle) II complex, a highly conserved vesicle tethering complex that functions in late Golgi trafficking as a membrane tether. Specific component of the multisubunit TRAPP II complex, which includes at least TRAPPC1, TRAPPC2, TRAPPC3, TRAPPC4, TRAPPC5, TRAPPC6A/B, TRAPPC9, TRAPPC10 and TRAPPC14. TRAPPC9, TRAPPC10 and TRAPPC14 are specific subunits of the TRAPP II complex (PubMed:19656848). Interacts with TRAPPC14 (By similarity). Golgi apparatus, cis-Golgi network Gene-null mice have smaller total brain area compared to wild-type animals, with specific reductions in the size of the corpus callosum, regions of the hippocampus, anterior commissure, and internal capsule. Only white matter structures are affected in mutant mice. There is a loss of myelination in these regions, but oligodendrocyte numbers are normal. Belongs to the TRAPPC10 family. molecular_function Golgi apparatus cytosol intra-Golgi vesicle-mediated transport vesicle-mediated transport TRAPP complex early endosome to Golgi transport protein oligomerization TRAPPII protein complex uc007fxm.1 uc007fxm.2 uc007fxm.3 uc007fxm.4 
ENSMUST00000000388.15 Ccm2 ENSMUST00000000388.15 cerebral cavernous malformation 2, transcript variant 1 (from RefSeq NM_146014.3) CCM2_MOUSE ENSMUST00000000388.1 ENSMUST00000000388.10 ENSMUST00000000388.11 ENSMUST00000000388.12 ENSMUST00000000388.13 ENSMUST00000000388.14 ENSMUST00000000388.2 ENSMUST00000000388.3 ENSMUST00000000388.4 ENSMUST00000000388.5 ENSMUST00000000388.6 ENSMUST00000000388.7 ENSMUST00000000388.8 ENSMUST00000000388.9 NM_146014 Osm Q5SUA3 Q8K2Y9 uc007hyv.1 uc007hyv.2 uc007hyv.3 uc007hyv.4 Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions. May also function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock. Part of a complex with MAP2K3, MAP3K3 and RAC1. Binds RAC1 directly and independently of its nucleotide-bound state. Interacts with PDCD10 (By similarity). Interacts with HEG1 and KRIT1; KRIT1 greatly facilitates the interaction with HEG1. Cytoplasm Note=Treatment with sorbitol caused relocalization to ruffle-like structures. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8K2Y9-1; Sequence=Displayed; Name=2; IsoId=Q8K2Y9-2; Sequence=VSP_024404, VSP_024405; Highly expressed in heart, lower expression in kidney, lung and liver (at protein level). Expressed primarily in the developing neural tube at 10.5 dpc. The C-terminal region constitutes an independently folded domain that has structural similarity with the USH1C (harmonin) N- terminus, despite very low sequence similarity. Belongs to the CCM2 family. blood vessel development vasculogenesis in utero embryonic development endothelial cell development vasculature development protein binding cytoplasm mitochondrion heart development macromolecular complex multicellular organism growth cell-cell junction organization inner ear development venous blood vessel morphogenesis pericardium development blood vessel endothelial cell differentiation endothelial tube morphogenesis uc007hyv.1 uc007hyv.2 uc007hyv.3 uc007hyv.4 
ENSMUST00000000395.8 Tmprss2 ENSMUST00000000395.8 transmembrane protease, serine 2 (from RefSeq NM_015775.2) ENSMUST00000000395.1 ENSMUST00000000395.2 ENSMUST00000000395.3 ENSMUST00000000395.4 ENSMUST00000000395.5 ENSMUST00000000395.6 ENSMUST00000000395.7 NM_015775 Q7TN04 Q9JIQ8 Q9JKC4 Q9QY82 TMPS2_MOUSE uc008adl.1 uc008adl.2 Plasma membrane-anchored serine protease that cleaves at arginine residues (By similarity). Participates in proteolytic cascades of relevance for the normal physiologic function of the prostate. Androgen-induced TMPRSS2 activates several substrates that include pro- hepatocyte growth factor/HGF, the protease activated receptor-2/F2RL1 or matriptase/ST14 leading to extracellular matrix disruption (By similarity). In addition, activates trigeminal neurons and contribute to both spontaneous pain and mechanical allodynia (PubMed:25734995). (Microbial infection) Essential for spread and pathogenesis of influenza A virus (strains H1N1, H3N2 and H7N9) and is involved in proteolytic cleavage and activation of hemagglutinin (HA) protein which is essential for viral infectivity. Reaction=The enzyme cleaves angiotensin-converting enzyme 2 (EC 3.4.17.23) and cleaves influenzea A and B virus and coronavirus spike glycoproteins at arginine residues.; EC=3.4.21.122; Evidence=; The catalytically active form interacts with ACE2. Cell membrane ; Single-pass type II membrane protein [Transmembrane protease serine 2 catalytic chain]: Secreted Note=Activated by cleavage and secreted. Larynx, trachea and bronchi, lung, prostate and kidney. Proteolytically processed; by an autocatalytic mechanism. Knockout mice show normal growth and reach normal adulthood without having abnormalities in organ histology and alteration in protein levels of prostatic secretions (PubMed:16428450). Abrogation of viral spread and protection of mice from severe pathology and death are observed after infection with influenza A virus strains H1N1 and H7N9. Belongs to the peptidase S1 family. serine-type endopeptidase activity scavenger receptor activity extracellular region plasma membrane proteolysis endocytosis peptidase activity serine-type peptidase activity membrane integral component of membrane protein autoprocessing hydrolase activity positive regulation of viral entry into host cell uc008adl.1 uc008adl.2 
ENSMUST00000000412.3 Egfl6 ENSMUST00000000412.3 EGF-like-domain, multiple 6 (from RefSeq NM_019397.3) EGFL6_MOUSE ENSMUST00000000412.1 ENSMUST00000000412.2 Maeg NM_019397 Q8BPM8 Q9JJZ5 uc009uww.1 uc009uww.2 uc009uww.3 May bind integrin alpha-8/beta-1 and play a role in hair follicle morphogenesis. Promotes matrix assembly. Secreted, extracellular space, extracellular matrix, basement membrane Expressed at basement membrane of pelage follicles (at protein level). Detected in early lateral dermatome and in all dermatome derivatives. Expressed at the basement membrane of embryonic skin and developing hair follicles. At 16.5 dpc, present in lung epithelium, and developing oral and tooth germ epithelia (at protein level). Belongs to the nephronectin family. integrin binding calcium ion binding extracellular region basement membrane cell adhesion multicellular organism development positive regulation of cell-substrate adhesion membrane cell differentiation extracellular matrix organization extracellular matrix uc009uww.1 uc009uww.2 uc009uww.3 
ENSMUST00000000421.6 Tssk3 ENSMUST00000000421.6 testis-specific serine kinase 3 (from RefSeq NM_080442.2) ENSMUST00000000421.1 ENSMUST00000000421.2 ENSMUST00000000421.3 ENSMUST00000000421.4 ENSMUST00000000421.5 NM_080442 Q9D2E1 Q9JL98 Stk22c Stk22d TSSK3_MOUSE uc008uxc.1 uc008uxc.2 uc008uxc.3 May be involved in a signaling pathway during male germ cell development or mature sperm function. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Activated by phosphorylation on Thr-168, potentially by autophosphorylation. Developmentally expressed in testicular germ cells. In adult testis, expression was detected in round and condensing spermatids, but not in meiotic pachytene spermatocytes. Not expressed in brain, ovary, kidney, liver or early embryonic cells. Expression begins 20-24 days after birth and is maximal in the adult. The pattern of expression suggests that STK22D is expressed postmeiotically. Autophosphorylated. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PubMed:10781952 has termed the gene 'STK22D' as it was then thought that there were two different closely related genes. Sequence=AAF72581.1; Type=Frameshift; Evidence=; nucleotide binding magnesium ion binding protein kinase activity protein serine/threonine kinase activity ATP binding nucleus cytoplasm protein phosphorylation multicellular organism development spermatogenesis kinase activity phosphorylation transferase activity cell differentiation intracellular signal transduction metal ion binding sperm capacitation uc008uxc.1 uc008uxc.2 uc008uxc.3 
ENSMUST00000000430.14 Galnt1 ENSMUST00000000430.14 polypeptide N-acetylgalactosaminyltransferase 1, transcript variant 1 (from RefSeq NM_013814.3) ENSMUST00000000430.1 ENSMUST00000000430.10 ENSMUST00000000430.11 ENSMUST00000000430.12 ENSMUST00000000430.13 ENSMUST00000000430.2 ENSMUST00000000430.3 ENSMUST00000000430.4 ENSMUST00000000430.5 ENSMUST00000000430.6 ENSMUST00000000430.7 ENSMUST00000000430.8 ENSMUST00000000430.9 GALT1_MOUSE Galnt1 NM_013814 O08912 Q5BKS3 Q7TND1 uc008egq.1 uc008egq.2 uc008egq.3 uc008egq.4 Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor (PubMed:9153242, PubMed:10037781). Has a broad spectrum of substrates such as apomucin-, MUC5AC-, MUC1- and MUC2-derived peptides (By similarity). Reaction=L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O- [N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:23956, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:12788, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:53604, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138; EC=2.4.1.41; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:23957; Evidence=; Reaction=L-threonyl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3- O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:52424, Rhea:RHEA-COMP:11060, Rhea:RHEA- COMP:11689, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:87075; EC=2.4.1.41; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:52425; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Protein modification; protein glycosylation. [Polypeptide N-acetylgalactosaminyltransferase 1]: Golgi apparatus, Golgi stack membrane ; Single-pass type II membrane protein [Polypeptide N-acetylgalactosaminyltransferase 1 soluble form]: Secreted Widely expressed at high level. Higher expression in kidney, heart, small intestine and cervix and to a lesser extent in all the other tissues tested. There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding. The ricin B-type lectin domain directs the glycopeptide specificity. It is required in the glycopeptide specificity of enzyme activity but not for activity with naked peptide substrates, suggesting that it triggers the catalytic domain to act on GalNAc-glycopeptide substrates (By similarity). Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Name=Functional Glycomics Gateway - GTase; Note=Polypeptide N-acetylgalactosaminyltransferase 1; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_mou_510"; polypeptide N-acetylgalactosaminyltransferase activity extracellular region Golgi apparatus protein glycosylation protein O-linked glycosylation membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups protein O-linked glycosylation via serine protein O-linked glycosylation via threonine manganese ion binding carbohydrate binding Golgi cisterna membrane metal ion binding perinuclear region of cytoplasm uc008egq.1 uc008egq.2 uc008egq.3 uc008egq.4 
ENSMUST00000000445.2 Myf5 ENSMUST00000000445.2 myogenic factor 5 (from RefSeq NM_008656.5) ENSMUST00000000445.1 MYF5_MOUSE Myf-5 NM_008656 P24699 Q543W7 uc007gyz.1 uc007gyz.2 Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Together with MYOG and MYOD1, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein. Efficient DNA binding requires dimerization with another bHLH protein. Nucleus. RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding cartilage condensation ossification somitogenesis regulation of cell-matrix adhesion DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development muscle organ development skeletal muscle tissue development cell differentiation extracellular matrix organization skeletal muscle cell differentiation camera-type eye development sequence-specific DNA binding positive regulation of myoblast differentiation positive regulation of transcription from RNA polymerase II promoter protein dimerization activity muscle organ morphogenesis embryonic skeletal system morphogenesis positive regulation of skeletal muscle fiber development muscle tissue morphogenesis positive regulation of myoblast fusion uc007gyz.1 uc007gyz.2 
ENSMUST00000000449.9 Mkrn2 ENSMUST00000000449.9 makorin, ring finger protein, 2 (from RefSeq NM_023290.3) ENSMUST00000000449.1 ENSMUST00000000449.2 ENSMUST00000000449.3 ENSMUST00000000449.4 ENSMUST00000000449.5 ENSMUST00000000449.6 ENSMUST00000000449.7 ENSMUST00000000449.8 MKRN2_MOUSE NM_023290 Q6GTY9 Q9D0L9 Q9ERV1 uc057bxw.1 uc057bxw.2 uc057bxw.3 E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:28378844). Promotes the polyubiquitination and proteasome-dependent degradation of RELA/p65, thereby suppressing RELA-mediated NF-kappa-B transactivation and negatively regulating inflammatory responses (PubMed:28378844). Plays a role in the regulation of spermiation and in male fertility (PubMed:28008940). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Protein modification; protein ubiquitination. Interacts with PDLIM2 (via LIM zinc-binding domain) (PubMed:28378844). Interacts with RELA (PubMed:28378844). Cytoplasm Nucleus Highly expressed in the testis, and lower expression in the brain, thymus, heart, lung, liver, spleen, kidney, ovary, uterus, and seminal vesicle (at protein level) (PubMed:28008940). Expressed in primary immune cells, such as CD4- positive and CD8-positive T cells, CD19-positive B cells and CD11c- positive dendritic cells, and in embryonic fibroblasts (at protein level) (PubMed:28378844). Male and female knockout mice are viable with a lighter birthweight than wild-type animals (PubMed:28008940). Causes infertility in male mice, whereas female mice are fertile, but display reduced fecundity (PubMed:28008940). Leads to abnormal sperms characterized by low number, poor motility, and aberrant morphology (PubMed:28008940). Sperms have deformed heads with abnormal or missing acrosomes, disorganized axonemal structure, and disorganized flagellar structure (PubMed:28008940). Complete loss of the axoneme doublets in one side of the fibrous sheath and disordered assembly of axoneme doublets (PubMed:28008940). Causes failure of sperm release (spermiation failure) and misarrangement of ectoplasmic specialization in testes, thus impairing spermiogenesis and spermiation (PubMed:28008940). Disrupted arrangement of ectoplasmic specialization, the adhesion junction found in Sertoli cells at sites of attachment to elongated spermatids or neighboring Sertoli cells in the testes, and decreased expression of Espn (PubMed:28008940). The outer dense fiber, which is an important component of flagellae, is absent or improperly arranged in epididymal sperms (PubMed:28008940). Decreased expression levels of Odf2 in spermatogenesis (PubMed:28008940). molecular_function biological_process protein ubiquitination transferase activity metal ion binding uc057bxw.1 uc057bxw.2 uc057bxw.3 
ENSMUST00000000451.14 Raf1 ENSMUST00000000451.14 v-raf-leukemia viral oncogene 1, transcript variant 1 (from RefSeq NM_029780.4) Craf ENSMUST00000000451.1 ENSMUST00000000451.10 ENSMUST00000000451.11 ENSMUST00000000451.12 ENSMUST00000000451.13 ENSMUST00000000451.2 ENSMUST00000000451.3 ENSMUST00000000451.4 ENSMUST00000000451.5 ENSMUST00000000451.6 ENSMUST00000000451.7 ENSMUST00000000451.8 ENSMUST00000000451.9 NM_029780 Q3UR68 Q58E75 Q91WH1 Q99N57 Q99N58 Q9QUU8 RAF1_MOUSE uc009diy.1 uc009diy.2 uc009diy.3 Serine/threonine-protein kinase that acts as a regulatory link between the membrane-associated Ras GTPases and the MAPK/ERK cascade, and this critical regulatory link functions as a switch determining cell fate decisions including proliferation, differentiation, apoptosis, survival and oncogenic transformation. RAF1 activation initiates a mitogen-activated protein kinase (MAPK) cascade that comprises a sequential phosphorylation of the dual-specific MAPK kinases (MAP2K1/MEK1 and MAP2K2/MEK2) and the extracellular signal- regulated kinases (MAPK3/ERK1 and MAPK1/ERK2). The phosphorylated form of RAF1 (on residues Ser-338 and Ser-339, by PAK1) phosphorylates BAD/Bcl2-antagonist of cell death at 'Ser-75'. Phosphorylates adenylyl cyclases: ADCY2, ADCY5 and ADCY6, resulting in their activation. Phosphorylates PPP1R12A resulting in inhibition of the phosphatase activity. Phosphorylates TNNT2/cardiac muscle troponin T. Can promote NF-kB activation and inhibit signal transducers involved in motility (ROCK2), apoptosis (MAP3K5/ASK1 and STK3/MST2), proliferation and angiogenesis (RB1). Can protect cells from apoptosis also by translocating to the mitochondria where it binds BCL2 and displaces BAD/Bcl2-antagonist of cell death. Plays a role in the oncogenic transformation of epithelial cells via repression of the TJ protein, occludin (OCLN) by inducing the up-regulation of a transcriptional repressor SNAI2/SLUG, which induces down-regulation of OCLN. Restricts caspase activation in response to selected stimuli, notably Fas stimulation, pathogen-mediated macrophage apoptosis, and erythroid differentiation (By similarity). Regulates Rho signaling and migration, and is required for normal wound healing. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:17990; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46609; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) ions per subunit. ; Regulation is a highly complex process involving membrane recruitment, protein-protein interactions, dimerization, and phosphorylation/dephosphorylation events. Ras-GTP recruits RAF1 to the membrane, thereby promoting its activation. The inactive conformation of RAF1 is maintained by autoinhibitory interactions occurring between the N-terminal regulatory and the C-terminal catalytic domains and by the binding of a 14-3-3 protein that contacts two phosphorylation sites, Ser-259 and Ser-621. Upon mitogenic stimulation, Ras and PPP2R1A cooperate to release autoinhibition and the subsequent phosphorylation of activating sites: Ser-338, Tyr-341, Thr-491, and Ser-494, yields a fully active kinase. Through a negative feedback mechanism involving MAPK1/ERK2, RAF1 is phosphorylated on Ser-29, Ser-43, Ser-289, Ser-296, Ser-301 and Ser-642 by MAPK1/ERK2, which yields an inactive, desensitized kinase. The signaling-competent conformation of RAF1 is finally re-established by the coordinated action of PIN1, a prolyl isomerase that converts pSer and pThr residues from the cis to the trans conformation, which is preferentially recognized and dephosphorylated by PPP2R1A. Activated by homodimerization and heterodimerization (with BRAF). Also regulated through association with other proteins such as KSR2, CNKSR1/CNK1, PEBP1/RKIP, PHB/prohibitin and SPRY4. PEBP1/RKIP acts by dissociating RAF1 from its substrates MAP2K1/MEK1 and MAP2K2/MEK2. PHB/prohibitin facilitates the displacement of 14-3-3 from RAF1 by activated Ras, thereby promoting cell membrane localization and phosphorylation of RAF1 at the activating Ser-338. SPRY4 inhibits Ras-independent, but not Ras- dependent, activation of RAF1. CNKSR1/CNK1 regulates Src-mediated RAF1 activation (By similarity). Monomer (By similarity). Homodimer (By similarity). Heterodimerizes with BRAF and this heterodimer possesses a highly increased kinase activity compared to the respective homodimers or monomers (By similarity). Heterodimerization is mitogen-regulated and enhanced by 14-3-3 proteins (By similarity). MAPK1/ERK2 activation can induce a negative feedback that promotes the dissociation of the heterodimer (By similarity). Forms a multiprotein complex with Ras (M- Ras/MRAS), SHOC2 and protein phosphatase 1 (PPP1CA, PPP1CB and PPP1CC) (By similarity). Interacts with LZTR1 (By similarity). Interacts with Ras proteins; the interaction is antagonized by RIN1 (By similarity). Weakly interacts with RIT1 (By similarity). Interacts (via N-terminus) with RGS14 (via RBD domains); the interaction mediates the formation of a ternary complex with BRAF, a ternary complex inhibited by GNAI1 (By similarity). Probably forms a complex composed of chaperones HSP90 and HSP70, co-chaperones CDC37, PPP5C, TSC1 and client protein TSC2, CDK4, AKT, RAF1 and NR3C1; this complex does not contain co-chaperones STIP1/HOP and PTGES3/p23 (By similarity). Interacts with STK3/MST2; the interaction inhibits its pro-apoptotic activity (By similarity). Interacts (when phosphorylated at Ser-259) with YWHAZ (unphosphorylated at 'Thr-232') (By similarity). Interacts with MAP2K1/MEK1 and MAP2K2/MEK2 (By similarity). Interacts with MAP3K5/ASF1 (via N- terminus) and this interaction inhibits the proapoptotic function of MAP3K5/ASK1 (By similarity). Interacts with PAK1 (via kinase domain) (By similarity). The Ser-338 and Ser-339 phosphorylated form (by PAK1) interacts with BCL2 (By similarity). Interacts with PEBP1/RKIP and this interaction is enhanced if RAF1 is phosphorylated on residues Ser-338, Ser-339, Tyr-340 and Tyr-341 (By similarity). Interacts with ADCY2, ADCY5, ADCY6, DGKH, RCAN1/DSCR1, PPP1R12A, PKB/AKT1, SPRY2, SPRY4, CNKSR1/CNK1, KSR2 and PHB/prohibitin (By similarity). The phosphorylated form interacts with PIN1 (PubMed:15664191). Interacts with PPP2CA, PPP2R1B and ROCK2 (PubMed:15753127, PubMed:15664191). In its active form, interacts with PRMT5 (By similarity). Interacts with FAM83B; displaces 14-3-3 proteins from RAF1 and activates RAF1 (By similarity). Interacts with PDE8A; the interaction promotes RAF1 activity (By similarity). Interacts with MFHAS1 (By similarity). Interacts with GLS (By similarity). Interacts with NEK10 and MAP2K1; the interaction is direct with NEK10 and required for ERK1/2-signaling pathway activation in response to UV irradiation (By similarity). Q99N57; P28028: Braf; NbExp=2; IntAct=EBI-397757, EBI-2584830; Q99N57; P32883-2: Kras; NbExp=3; IntAct=EBI-397757, EBI-644285; Q99N57; Q8CFI0: Nedd4l; NbExp=2; IntAct=EBI-397757, EBI-8046183; Q99N57; Q9WVC6: Sgk1; NbExp=2; IntAct=EBI-397757, EBI-15591730; Q99N57; Q9Z2S7-3: Tsc22d3; NbExp=2; IntAct=EBI-397757, EBI-15771036; Q99N57; P15056: BRAF; Xeno; NbExp=3; IntAct=EBI-397757, EBI-365980; Q99N57; P01111: NRAS; Xeno; NbExp=2; IntAct=EBI-397757, EBI-721993; Cytoplasm Cell membrane Mitochondrion Nucleus Note=Colocalizes with RGS14 and BRAF in both the cytoplasm and membranes. Phosphorylation at Ser-259 impairs its membrane accumulation. Recruited to the cell membrane by the active Ras protein. Phosphorylation at Ser-338 and Ser-339 by PAK1 is required for its mitochondrial localization (By similarity). Retinoic acid- induced Ser-621 phosphorylated form of RAF1 is predominantly localized at the nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=6C; IsoId=Q99N57-1; Sequence=Displayed; Name=2; Synonyms=1A; IsoId=Q99N57-2; Sequence=VSP_034629; Present in all tissues tested: testis, ovary, small intestine, colon, peripheral blood leukocytes, fetal liver, bone marrow, thymus, lymph node and spleen, and the cell lines melanoma G- 361, lung carcinoma A-549, colorectal adenocarcinoma SW480, Burkitt's lymphoma Raji and lymphoblastic leukemia MOLT-4. In skeletal muscle, isoform 1 is more abundant than isoform 2. Phosphorylation at Thr-269, Ser-338, Tyr-341, Thr-491 and Ser-494 results in its activation. Phosphorylation at Ser-29, Ser-43, Ser-289, Ser-296, Ser-301 and Ser-642 by MAPK1/ERK2 results in its inactivation. Phosphorylation at Ser-259 induces the interaction with YWHAZ and inactivates kinase activity. Dephosphorylation of Ser-259 by the complex containing protein phosphatase 1, SHOC2 and M-Ras/MRAS relieves inactivation, leading to stimulate RAF1 activity. Phosphorylation at Ser-338 by PAK1 and PAK5 and Ser-339 by PAK1 is required for its mitochondrial localization (By similarity). Phosphorylation at Ser-621 in response to growth factor treatment stabilizes the protein, possibly by preventing proteasomal degradation. Phosphorylation at Ser-289, Ser- 296, Ser-301, Ser-338 and Ser-621 are somehow linked to the methylation potential of cells. Treatment of cells with HGF in the presence of the methylation inhibitor 5'-methylthioadenosine (MTA) results in increased phosphorylation at Ser-338 and Ser-621 and decreased phosphorylation at Ser-296, Ser-301 and Ser-338. Dephosphorylation at Ser-338 by PPP5C results in a decreased of activity (By similarity). Methylated at Arg-563 in response to EGF treatment. This modification leads to destabilization of the protein, possibly through proteasomal degradation. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily. MAPK cascade nucleotide binding activation of MAPKK activity response to hypoxia cellular glucose homeostasis positive regulation of protein phosphorylation protein kinase activity protein serine/threonine kinase activity MAP kinase kinase kinase activity protein binding ATP binding nucleus cytoplasm mitochondrion Golgi apparatus cytosol plasma membrane protein phosphorylation signal transduction activation of adenylate cyclase activity heart development adenylate cyclase binding negative regulation of cell proliferation adenylate cyclase activator activity membrane kinase activity phosphorylation nuclear speck transferase activity Ras GTPase binding enzyme binding cell differentiation thyroid gland development pseudopodium negative regulation of protein complex assembly mitogen-activated protein kinase kinase binding positive regulation of peptidyl-serine phosphorylation somatic stem cell population maintenance intracellular signal transduction insulin secretion involved in cellular response to glucose stimulus response to muscle stretch identical protein binding negative regulation of apoptotic process intermediate filament cytoskeleton organization positive regulation of transcription from RNA polymerase II promoter metal ion binding protein heterodimerization activity neurotrophin TRK receptor signaling pathway thymus development face development death-inducing signaling complex assembly negative regulation of extrinsic apoptotic signaling pathway via death domain receptors uc009diy.1 uc009diy.2 uc009diy.3 
ENSMUST00000000466.13 Plin2 ENSMUST00000000466.13 perilipin 2, transcript variant 1 (from RefSeq NM_007408.4) Adfp Adrp ENSMUST00000000466.1 ENSMUST00000000466.10 ENSMUST00000000466.11 ENSMUST00000000466.12 ENSMUST00000000466.2 ENSMUST00000000466.3 ENSMUST00000000466.4 ENSMUST00000000466.5 ENSMUST00000000466.6 ENSMUST00000000466.7 ENSMUST00000000466.8 ENSMUST00000000466.9 NM_007408 P43883 PLIN2_MOUSE Q8K3Q8 uc008tlz.1 uc008tlz.2 uc008tlz.3 Structural component of lipid droplets, which is required for the formation and maintenance of lipid storage droplets. P43883; P63017: Hspa8; NbExp=3; IntAct=EBI-16156700, EBI-433443; Membrane ; Peripheral membrane protein Lipid droplet Adipose tissue specific. Expressed abundantly and preferentially in fat pads. By dexamethasone. Acylated; primarily with C14, C16 and C18 fatty acids. Phosphorylation at Tyr-230 by isoform 1 of CHKA (CHKalpha2) promotes dissociation from lipid droplets: dissociation is followed by recruitment of autophagosome machinery to lipid droplets and subsequent lipid droplet lipolysis. Belongs to the perilipin family. protein binding nucleus cytoplasm lipid particle cytosol plasma membrane response to organic cyclic compound long-chain fatty acid transport membrane lipid storage response to drug uc008tlz.1 uc008tlz.2 uc008tlz.3 
ENSMUST00000000476.15 Pdgfra ENSMUST00000000476.15 platelet derived growth factor receptor, alpha polypeptide, transcript variant 2 (from RefSeq NM_011058.3) ENSMUST00000000476.1 ENSMUST00000000476.10 ENSMUST00000000476.11 ENSMUST00000000476.12 ENSMUST00000000476.13 ENSMUST00000000476.14 ENSMUST00000000476.2 ENSMUST00000000476.3 ENSMUST00000000476.4 ENSMUST00000000476.5 ENSMUST00000000476.6 ENSMUST00000000476.7 ENSMUST00000000476.8 ENSMUST00000000476.9 NM_011058 P26618 PGFRA_MOUSE Q3TQ37 Q62046 Q7TSJ3 Q8C4N3 uc008xuc.1 uc008xuc.2 uc008xuc.3 This gene encodes a member of the receptor tyrosine kinase family of proteins. Binding of platelet-derived growth factor protein ligands to this receptor triggers receptor dimerization and autophosphorylation, resulting in the activation of several downstream signaling pathways. Signaling through the encoded receptor plays a role in gastrulation and the development of nearly all organ systems. Mice lacking a functional copy of this gene reportedly exhibit defects in lung, skeleton, testis and the central nervous system, and die soon after birth. Alternative splicing and intronic polyadenylation of gene transcripts have been implicated in muscle regeneration and fibrosis in adult mice. [provided by RefSeq, Jan 2017]. Tyrosine-protein kinase that acts as a cell-surface receptor for PDGFA, PDGFB and PDGFC and plays an essential role in the regulation of embryonic development, cell proliferation, survival and chemotaxis. Depending on the context, promotes or inhibits cell proliferation and cell migration. Plays an important role in the differentiation of bone marrow-derived mesenchymal stem cells. Required for normal skeleton development and cephalic closure during embryonic development. Required for normal development of the mucosa lining the gastrointestinal tract, and for recruitment of mesenchymal cells and normal development of intestinal villi. Plays a role in cell migration and chemotaxis in wound healing. Plays a role in platelet activation, secretion of agonists from platelet granules, and in thrombin-induced platelet aggregation. Binding of its cognate ligands - homodimeric PDGFA, homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFC -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PIK3R1, PLCG1, and PTPN11. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylates PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, and thereby mediates activation of the AKT1 signaling pathway. Mediates activation of HRAS and of the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3 and STAT5A and/or STAT5B. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor. Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence=; Present in an inactive conformation in the absence of bound ligand. Binding of PDGFA and/or PDGFB leads to dimerization and activation by autophosphorylation on tyrosine residues. Inhibited by imatinib, nilotinib and sorafenib (By similarity). Interacts with homodimeric PDGFA, PDGFB and PDGFC, and with heterodimers formed by PDGFA and PDGFB. Monomer in the absence of bound ligand. Interaction with dimeric PDGFA, PDGFB and/or PDGFC leads to receptor dimerization, where both PDGFRA homodimers and heterodimers with PDGFRB are observed. Interacts (tyrosine phosphorylated) with SHB (via SH2 domain). Interacts (tyrosine phosphorylated) with SHF (via SH2 domain). Interacts (tyrosine phosphorylated) with SRC (via SH2 domain). Interacts (tyrosine phosphorylated) with PIK3R1. Interacts (tyrosine phosphorylated) with PLCG1 (via SH2 domain). Interacts (tyrosine phosphorylated) with CRK, GRB2 and GRB7 (By similarity). Cell membrane ; Single-pass type I membrane protein Cell projection, cilium Golgi apparatus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P26618-1; Sequence=Displayed; Name=2; IsoId=P26618-2; Sequence=VSP_031877, VSP_031878; Focally expressed in cortical interstitial cells and highly expressed in the interstitium of the papillary region. Also expressed by adventitial cells in arterial vessels. Up-regulated in areas of renal fibrosis. In mice with unilateral ureteral obstruction, expression in cortical interstitial cells becomes prominent at day 4 which increases progressively until day 14. Up-regulated by growth arrest. Ubiquitinated, leading to its internalization and degradation. Autophosphorylated on tyrosine residues upon ligand binding. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-731 and Tyr-742 is important for interaction with PIK3R1. Phosphorylation at Tyr-720 and Tyr-754 is important for interaction with PTPN11. Phosphorylation at Tyr-762 is important for interaction with CRK. Phosphorylation at Tyr-572 and Tyr-574 is important for interaction with SRC and SRC family members. Phosphorylation at Tyr-988 and Tyr-1018 is important for interaction with PLCG1 (By similarity). Embryonically lethal. Most embryos survive up to 13 dpc, but display important defects in skeleton development, including spina bifida, fusions of cervical vertebrae and ribs, and incomplete fusion of the skull parietal bone. Embryos display also abnormal mucosa lining the gastrointestinal tract, including fewer and misshapen villi and loss of pericryptal mesenchyme. At about 16 dpc, embryos display extensive hemorrhaging. Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. nucleotide binding luteinization in utero embryonic development hematopoietic progenitor cell differentiation protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity platelet-derived growth factor alpha-receptor activity vascular endothelial growth factor-activated receptor activity platelet-derived growth factor receptor binding ATP binding nucleus cytoplasm Golgi apparatus plasma membrane integral component of plasma membrane microvillus cilium protein phosphorylation chemotaxis transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of cytosolic calcium ion concentration multicellular organism development estrogen metabolic process positive regulation of cell proliferation female gonad development anatomical structure morphogenesis animal organ morphogenesis external side of plasma membrane cell surface negative regulation of platelet activation positive regulation of phospholipase C activity membrane integral component of membrane kinase activity phosphorylation cell migration transferase activity peptidyl-tyrosine phosphorylation signal transduction involved in regulation of gene expression cell junction extracellular matrix organization lung development adrenal gland development positive regulation of cell migration axon male genitalia development intrinsic component of plasma membrane macromolecular complex Leydig cell differentiation cellular response to reactive oxygen species platelet-derived growth factor receptor-alpha signaling pathway vascular endothelial growth factor binding positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway wound healing odontogenesis of dentin-containing tooth protein homodimerization activity cell projection receptor complex phosphatidylinositol 3-kinase binding positive regulation of phosphatidylinositol 3-kinase activity macromolecular complex binding protein autophosphorylation platelet-derived growth factor receptor signaling pathway phosphatidylinositol-mediated signaling positive regulation of fibroblast proliferation platelet-derived growth factor binding embryonic digestive tract morphogenesis embryonic cranial skeleton morphogenesis skeletal system morphogenesis positive regulation of peptidyl-tyrosine phosphorylation regulation of chemotaxis cardiac myofibril assembly palate development face morphogenesis cell chemotaxis lung growth positive regulation of branching involved in lung morphogenesis retina vasculature development in camera-type eye positive regulation of ERK1 and ERK2 cascade platelet aggregation cellular response to amino acid stimulus metanephric glomerular capillary formation regulation of mesenchymal stem cell differentiation uc008xuc.1 uc008xuc.2 uc008xuc.3 
ENSMUST00000000500.8 Pdgfb ENSMUST00000000500.8 platelet derived growth factor, B polypeptide, transcript variant 6 (from RefSeq NR_177437.1) A0A0R4IZW4 A0A0R4IZW4_MOUSE ENSMUST00000000500.1 ENSMUST00000000500.2 ENSMUST00000000500.3 ENSMUST00000000500.4 ENSMUST00000000500.5 ENSMUST00000000500.6 ENSMUST00000000500.7 NR_177437 Pdgfb uc007wuz.1 uc007wuz.2 uc007wuz.3 Secreted Belongs to the PDGF/VEGF growth factor family. positive regulation of endothelial cell proliferation monocyte chemotaxis platelet-derived growth factor receptor binding collagen binding protein phosphorylation growth factor activity positive regulation of cell proliferation response to wounding cell surface negative regulation of phosphatidylinositol biosynthetic process negative regulation of platelet activation positive regulation of gene expression negative regulation of gene expression positive regulation of phosphatidylinositol 3-kinase signaling positive regulation of smooth muscle cell migration membrane superoxide-generating NADPH oxidase activator activity peptidyl-serine phosphorylation peptidyl-tyrosine phosphorylation positive regulation of cell migration positive regulation of protein autophosphorylation negative regulation of protein binding activation of protein kinase activity activation of protein kinase B activity interleukin-18-mediated signaling pathway positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway chemoattractant activity identical protein binding protein homodimerization activity positive regulation of MAP kinase activity positive regulation of MAPK cascade positive regulation of blood vessel endothelial cell migration positive regulation of phosphatidylinositol 3-kinase activity positive regulation of cyclin-dependent protein serine/threonine kinase activity positive regulation of mitotic nuclear division negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated protein heterodimerization activity platelet-derived growth factor receptor signaling pathway positive regulation of fibroblast proliferation platelet-derived growth factor binding positive regulation of smooth muscle cell proliferation positive regulation of peptidyl-tyrosine phosphorylation positive chemotaxis positive regulation of chemotaxis cell chemotaxis positive regulation of protein tyrosine kinase activity positive regulation of ERK1 and ERK2 cascade protein kinase C signaling cellular response to growth factor stimulus positive regulation of glomerular mesangial cell proliferation reactive oxygen species metabolic process positive regulation of calcium ion import positive regulation of hyaluronan biosynthetic process negative regulation of pri-miRNA transcription from RNA polymerase II promoter positive regulation of pri-miRNA transcription from RNA polymerase II promoter positive regulation of vascular smooth muscle cell proliferation positive regulation of vascular associated smooth muscle cell migration negative regulation of vascular smooth muscle cell differentiation positive regulation of vascular smooth muscle cell dedifferentiation positive regulation of reactive oxygen species metabolic process positive regulation of DNA biosynthetic process positive regulation of metanephric mesenchymal cell migration uc007wuz.1 uc007wuz.2 uc007wuz.3 
ENSMUST00000000505.16 Mcm7 ENSMUST00000000505.16 minichromosome maintenance complex component 7, transcript variant 1 (from RefSeq NM_008568.3) Cdc47 ENSMUST00000000505.1 ENSMUST00000000505.10 ENSMUST00000000505.11 ENSMUST00000000505.12 ENSMUST00000000505.13 ENSMUST00000000505.14 ENSMUST00000000505.15 ENSMUST00000000505.2 ENSMUST00000000505.3 ENSMUST00000000505.4 ENSMUST00000000505.5 ENSMUST00000000505.6 ENSMUST00000000505.7 ENSMUST00000000505.8 ENSMUST00000000505.9 MCM7_MOUSE Mcmd7 NM_008568 Q61881 uc009aeu.1 uc009aeu.2 uc009aeu.3 Acts as a component of the MCM2-7 complex (MCM complex) which is the replicative helicase essential for 'once per cell cycle' DNA replication initiation and elongation in eukaryotic cells. Core component of CDC45-MCM-GINS (CMG) helicase, the molecular machine that unwinds template DNA during replication, and around which the replisome is built. The active ATPase sites in the MCM2-7 ring are formed through the interaction surfaces of two neighboring subunits such that a critical structure of a conserved arginine finger motif is provided in trans relative to the ATP-binding site of the Walker A box of the adjacent subunit. The six ATPase active sites, however, are likely to contribute differentially to the complex helicase activity (By similarity). Uncomplexed form does not show ATPase or DNA helicase (PubMed:12207017). Required for S-phase checkpoint activation upon UV- induced damage (By similarity). Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:13066; Evidence=; Component of the MCM2-7 complex. The complex forms a toroidal hexameric ring with the proposed subunit order MCM2-MCM6-MCM4-MCM7- MCM3-MCM5. Component of the CMG helicase complex, a hexameric ring of related MCM2-7 subunits stabilized by CDC45 and the tetrameric GINS complex. Interacts with the ATR-ATRIP complex and with RAD17. Interacts with TIPIN. Interacts with MCMBP. Interacts with ANKRD17. Component of the replisome complex composed of at least DONSON, MCM2, MCM7, PCNA and TICRR. Q61881; P46414: Cdkn1b; NbExp=2; IntAct=EBI-457180, EBI-1005742; Nucleus Chromosome Note=Associated with chromatin before the formation of nuclei and detaches from it as DNA replication progresses. O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner. Ubiquitinated by ECS(LRR1) E3 ubiquitin-protein ligase complex when forks converge following formation of DNA interstrand cross-links (PubMed:33590678). During mitosis, ubiquitinated by TRAIP when forks converge following formation of DNA interstrand cross-links (PubMed:33590678). Short ubiquitin chains on MCM7 promote recruitment of DNA glycosylase NEIL3 (By similarity). If the interstrand cross-link cannot be cleaved by NEIL3, the ubiquitin chains continue to grow on MCM7, promoting the unloading of the CMG helicase complex by the VCP/p97 ATPase (PubMed:33590678). Early fractionation of eukaryotic MCM proteins yielded a variety of dimeric, trimeric and tetrameric complexes with unclear biological significance. Specifically a MCM467 subcomplex is shown to have in vitro helicase activity which is inhibited by the MCM2 subunit. The MCM2-7 hexamer is the proposed physiological active complex. Belongs to the MCM family. nucleotide binding double-strand break repair via break-induced replication DNA binding DNA helicase activity DNA replication origin binding single-stranded DNA binding helicase activity protein binding ATP binding nucleus nucleoplasm cytosol DNA replication pre-replicative complex assembly involved in nuclear cell cycle DNA replication DNA unwinding involved in DNA replication DNA replication initiation DNA strand elongation involved in DNA replication cellular response to DNA damage stimulus cell cycle cell proliferation hydrolase activity regulation of phosphorylation response to drug MCM complex cellular response to organic substance cellular response to epidermal growth factor stimulus cellular response to xenobiotic stimulus single-stranded DNA-dependent ATP-dependent 3'-5' DNA helicase activity uc009aeu.1 uc009aeu.2 uc009aeu.3 
ENSMUST00000000542.14 Acvrl1 ENSMUST00000000542.14 activin A receptor, type II-like 1, transcript variant 1 (from RefSeq NM_009612.3) ACVL1_MOUSE Acvrlk1 Alk-1 ENSMUST00000000542.1 ENSMUST00000000542.10 ENSMUST00000000542.11 ENSMUST00000000542.12 ENSMUST00000000542.13 ENSMUST00000000542.2 ENSMUST00000000542.3 ENSMUST00000000542.4 ENSMUST00000000542.5 ENSMUST00000000542.6 ENSMUST00000000542.7 ENSMUST00000000542.8 ENSMUST00000000542.9 NM_009612 Q61288 Q61289 Q91YR0 uc007xsm.1 uc007xsm.2 uc007xsm.3 Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well. Reaction=ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho- L-threonyl-[receptor-protein]; Xref=Rhea:RHEA:44880, Rhea:RHEA- COMP:11024, Rhea:RHEA-COMP:11025, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.30; Reaction=ATP + L-seryl-[receptor-protein] = ADP + H(+) + O-phospho-L- seryl-[receptor-protein]; Xref=Rhea:RHEA:18673, Rhea:RHEA-COMP:11022, Rhea:RHEA-COMP:11023, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.30; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Interacts with TSC22D1/TSC-22. Cell membrane ; Single-pass type I membrane protein Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. nucleotide binding angiogenesis response to hypoxia in utero embryonic development negative regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation lymphangiogenesis blood vessel remodeling endocardial cushion morphogenesis protein kinase activity protein serine/threonine kinase activity transmembrane receptor protein serine/threonine kinase activity transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type I protein binding ATP binding plasma membrane integral component of plasma membrane regulation of transcription, DNA-templated protein phosphorylation negative regulation of cell adhesion signal transduction transmembrane receptor protein serine/threonine kinase signaling pathway transforming growth factor beta receptor signaling pathway pattern specification process blood circulation regulation of blood pressure negative regulation of cell proliferation cell surface negative regulation of endothelial cell migration negative regulation of gene expression positive regulation of pathway-restricted SMAD protein phosphorylation membrane integral component of membrane kinase activity phosphorylation activin receptor activity, type I transferase activity growth factor binding protein kinase binding negative regulation of cell growth negative regulation of cell migration dendrite BMP signaling pathway positive regulation of BMP signaling pathway activin receptor signaling pathway wound healing, spreading of epidermal cells dorsal aorta morphogenesis endothelial cell activation neuronal cell body receptor complex negative regulation of blood vessel endothelial cell migration negative regulation of endothelial cell differentiation positive regulation of endothelial cell differentiation positive regulation of angiogenesis positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter SMAD binding metal ion binding activin receptor complex activin binding blood vessel morphogenesis transforming growth factor beta binding negative regulation of focal adhesion assembly lymphatic endothelial cell differentiation artery development venous blood vessel development endothelial tube morphogenesis retina vasculature development in camera-type eye cellular response to transforming growth factor beta stimulus cellular response to BMP stimulus BMP receptor activity negative regulation of DNA biosynthetic process endocardial cushion to mesenchymal transition uc007xsm.1 uc007xsm.2 uc007xsm.3 
ENSMUST00000000543.6 Tamalin ENSMUST00000000543.6 trafficking regulator and scaffold protein tamalin (from RefSeq NM_019518.3) ENSMUST00000000543.1 ENSMUST00000000543.2 ENSMUST00000000543.3 ENSMUST00000000543.4 ENSMUST00000000543.5 GRASP_MOUSE Grasp MNCb-4428 NM_019518 Q9JJA9 Q9JKL0 Tamalin uc007xsu.1 uc007xsu.2 uc007xsu.3 Plays a role in intracellular trafficking and contributes to the macromolecular organization of group 1 metabotropic glutamate receptors (mGluRs) at synapses. Heteromer. Composed of TAMALIN, CYTH2 and at least one GRM1. Also interacts with GRM2, GRM3 and GRM5 (By similarity). Interacts with CYTH3 (PubMed:10828067). Cytoplasm, perinuclear region Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Postsynaptic cell membrane Highly expressed in brain, heart and lung, and to a lower extent in embryo, kidney and ovary. protein binding nuclear envelope lumen cytoplasm plasma membrane intracellular protein transport signal transduction protein localization postsynaptic density membrane PDZ domain binding ADP-ribosylation factor binding identical protein binding glutamatergic synapse uc007xsu.1 uc007xsu.2 uc007xsu.3 
ENSMUST00000000544.12 Acvr1b ENSMUST00000000544.12 activin A receptor, type 1B (from RefSeq NM_007395.4) ACV1B_MOUSE Alk4 ENSMUST00000000544.1 ENSMUST00000000544.10 ENSMUST00000000544.11 ENSMUST00000000544.2 ENSMUST00000000544.3 ENSMUST00000000544.4 ENSMUST00000000544.5 ENSMUST00000000544.6 ENSMUST00000000544.7 ENSMUST00000000544.8 ENSMUST00000000544.9 NM_007395 Q61271 uc007xsr.1 uc007xsr.2 uc007xsr.3 Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine- threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type- 1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2. Reaction=ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho- L-threonyl-[receptor-protein]; Xref=Rhea:RHEA:44880, Rhea:RHEA- COMP:11024, Rhea:RHEA-COMP:11025, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.30; Reaction=ATP + L-seryl-[receptor-protein] = ADP + H(+) + O-phospho-L- seryl-[receptor-protein]; Xref=Rhea:RHEA:18673, Rhea:RHEA-COMP:11022, Rhea:RHEA-COMP:11023, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.30; Activin receptor type-2 (ACVR2A or ACVR2B) activates the type-1 receptor through phosphorylation of its regulatory GS domain. Forms an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B) (By similarity). Part of a complex consisting of MAGI2/ARIP1, ACVR2A, ACVR1B and SMAD3 (PubMed:10681527). Interacts with SMAD2 and SMAD3 (By similarity). Interacts with SMAD7 (By similarity). Interacts with FKBP1A (By similarity). Interacts with IGSF1 (By similarity). Interacts with CRIPTO (By similarity). Interacts with TDP2 (PubMed:18039968). Interacts with TSC22D1/TSC-22 (By similarity). Cell membrane ; Single-pass type I membrane protein The GS domain is a 30-amino-acid sequence adjacent to the N- terminal boundary of the kinase domain and highly conserved in all other known type-1 receptors but not in type-2 receptors. The GS domain is the site of activation through phosphorylation by the II receptors (By similarity). Autophosphorylated. Phosphorylated by activin receptor type-2 (ACVR2A or ACVR2B) in response to activin-binding at serine and threonine residues in the GS domain. Phosphorylation of ACVR1B by activin receptor type-2 regulates association with SMAD7 (By similarity). Ubiquitinated. Level of ubiquitination is regulated by the SMAD7- SMURF1 complex (By similarity). Ubiquitinated. Leads to hair loss. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. G1/S transition of mitotic cell cycle nucleotide binding in utero embryonic development hair follicle development protein kinase activity protein serine/threonine kinase activity transmembrane receptor protein serine/threonine kinase activity transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type I protein binding ATP binding cytosol plasma membrane integral component of plasma membrane regulation of transcription, DNA-templated protein phosphorylation signal transduction cell surface receptor signaling pathway transmembrane receptor protein serine/threonine kinase signaling pathway transforming growth factor beta receptor signaling pathway pattern specification process central nervous system development mesoderm development regulation of signal transduction cell surface positive regulation of gene expression negative regulation of gene expression positive regulation of pathway-restricted SMAD protein phosphorylation membrane integral component of membrane kinase activity phosphorylation activin receptor activity, type I transferase activity activin-activated receptor activity peptidyl-threonine phosphorylation growth factor binding negative regulation of cell growth activin receptor signaling pathway positive regulation of activin receptor signaling pathway inhibin binding nodal signaling pathway receptor complex positive regulation of erythrocyte differentiation positive regulation of transcription from RNA polymerase II promoter SMAD binding development of primary female sexual characteristics protein autophosphorylation metal ion binding activin receptor complex activin binding extrinsic apoptotic signaling pathway positive regulation of trophoblast cell migration uc007xsr.1 uc007xsr.2 uc007xsr.3 
ENSMUST00000000573.9 Ovgp1 ENSMUST00000000573.9 oviductal glycoprotein 1 (from RefSeq NM_007696.2) Chit5 ENSMUST00000000573.1 ENSMUST00000000573.2 ENSMUST00000000573.3 ENSMUST00000000573.4 ENSMUST00000000573.5 ENSMUST00000000573.6 ENSMUST00000000573.7 ENSMUST00000000573.8 NM_007696 OVGP1_MOUSE Ogp Q62010 uc008qvq.1 uc008qvq.2 uc008qvq.3 Binds to oocyte zona pellucida in vivo. May play a role in the fertilization process and/or early embryonic development. Cytoplasmic vesicle, secretory vesicle. Note=Secretory granules. Epithelial cells of the oviduct. Belongs to the glycosyl hydrolase 18 family. chitinase activity extracellular region cytoplasm carbohydrate metabolic process chitin catabolic process single fertilization chitin binding transport vesicle cytoplasmic vesicle egg coat perivitelline space negative regulation of binding of sperm to zona pellucida uc008qvq.1 uc008qvq.2 uc008qvq.3 
ENSMUST00000000574.3 Adora3 ENSMUST00000000574.3 adenosine A3 receptor (from RefSeq NM_009631.4) Adora3 ENSMUST00000000574.1 ENSMUST00000000574.2 NM_009631 Q3U4C5 Q3U4C5_MOUSE uc008qvi.1 uc008qvi.2 uc008qvi.3 uc008qvi.4 This gene encodes a protein that belongs to the family of adenosine receptors, which are G-protein-coupled receptors that are involved in a variety of intracellular signaling pathways and physiological functions. The receptor encoded by this gene mediates a sustained cardioprotective function during cardiac ischemia, it is involved in the inhibition of neutrophil degranulation in neutrophil-mediated tissue injury, it has been implicated in both neuroprotective and neurodegenerative effects, and it may also mediate both cell proliferation and cell death. This gene shares its 3' terminal exon with a transcript variant from overlapping GeneID:69296, which encodes an immunoglobulin domain-containing protein. [provided by RefSeq, Nov 2014]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK013534.1, AK154312.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for adenosine. The activity of this receptor is mediated by G proteins which inhibit adenylyl cyclase. Cell membrane ulti-pass membrane protein Membrane ; Multi-pass membrane protein Belongs to the G-protein coupled receptor 1 family. G-protein coupled adenosine receptor activity adenosine receptor signaling pathway G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway negative regulation of cell proliferation membrane integral component of membrane negative regulation of cell migration negative regulation of NF-kappaB transcription factor activity uc008qvi.1 uc008qvi.2 uc008qvi.3 uc008qvi.4 
ENSMUST00000000579.3 Sox9 ENSMUST00000000579.3 SRY (sex determining region Y)-box 9 (from RefSeq NM_011448.4) ENSMUST00000000579.1 ENSMUST00000000579.2 NM_011448 Q04887 Q8C7L2 Q91ZK2 Q99KQ0 SOX9_MOUSE Sox-9 Sox9 uc007med.1 uc007med.2 uc007med.3 uc007med.4 Transcription factor that plays a key role in chondrocytes differentiation and skeletal development (PubMed:10319868, PubMed:11371614, PubMed:12414734, PubMed:15132997, PubMed:18415932, PubMed:20940257, PubMed:28263186). Specifically binds the 5'-ACAAAG-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, including cartilage matrix protein-coding genes COL2A1, COL4A2, COL9A1, COL11A2 and ACAN, SOX5 and SOX6 (PubMed:9119111, PubMed:10805756, PubMed:12414734, PubMed:15694126, PubMed:17525254, PubMed:26146088, PubMed:26150426, PubMed:26910618, PubMed:28263186). Also binds to some promoter regions (PubMed:20940257). Plays a central role in successive steps of chondrocyte differentiation (PubMed:11371614, PubMed:12414734, PubMed:22421045). Absolutely required for precartilaginous condensation, the first step in chondrogenesis during which skeletal progenitors differentiate into prechondrocytes (PubMed:11371614, PubMed:12414734). Together with SOX5 and SOX6, required for overt chondrogenesis when condensed prechondrocytes differentiate into early stage chondrocytes, the second step in chondrogenesis (PubMed:11371614, PubMed:12414734, PubMed:15529345). Later, required to direct hypertrophic maturation and block osteoblast differentiation of growth plate chondrocytes: maintains chondrocyte columnar proliferation, delays prehypertrophy and then prevents osteoblastic differentiation of chondrocytes by lowering beta-catenin (CTNNB1) signaling and RUNX2 expression (PubMed:22421045, PubMed:31121357). Also required for chondrocyte hypertrophy, both indirectly, by keeping the lineage fate of chondrocytes, and directly, by remaining present in upper hypertrophic cells and transactivating COL10A1 along with MEF2C (PubMed:21367821, PubMed:22421045). Low lipid levels are the main nutritional determinant for chondrogenic commitment of skeletal progenitor cells: when lipids levels are low, FOXO (FOXO1 and FOXO3) transcription factors promote expression of SOX9, which induces chondrogenic commitment and suppresses fatty acid oxidation (PubMed:32103177). Mechanistically, helps, but is not required, to remove epigenetic signatures of transcriptional repression and deposit active promoter and enhancer marks at chondrocyte-specific genes (PubMed:30021842). Acts in cooperation with the Hedgehog pathway- dependent GLI (GLI1 and GLI3) transcription factors (PubMed:29659575). In addition to cartilage development, also acts as a regulator of proliferation and differentiation in epithelial stem/progenitor cells: involved in the lung epithelium during branching morphogenesis, by balancing proliferation and differentiation and regulating the extracellular matrix (PubMed:24191021). Controls epithelial branching during kidney development (PubMed:21212101). Homodimer; homodimerization is required for activity (PubMed:26146088). Interacts (via C-terminus) with ZNF219; forming a complex that binds to the COL2A1 promoter and activates COL2A1 expression (PubMed:20940257). Interacts with DDRGK1 (By similarity). Interacts with EP300/p300 (By similarity). Interacts with beta-catenin (CTNNB1); inhibiting CTNNB1 activity by competing with the binding sites of TCF/LEF within CTNNB1 (PubMed:15132997). Nucleus Expressed in the intestinal epithelium (at protein level) (PubMed:22510880). Expressed in progenitor cells in various organs, including chondroprogenitors, osteoprogenitors and preadipocytes, but is not expressed in most differentiated cell types such as osteoblasts and adipocytes, with the exception of chondrocytes (PubMed:16203988). Highly expressed in developing chondrogenic tissues (PubMed:9119111). Also expressed in some non-chondrogenic tissues such as notochord, otic vesicle and neural tube (PubMed:9119111). Predominantly expressed in mesenchymal condensations throughout the embryo before and during the deposition of cartilage (PubMed:7704017). Expressed in multipotent skeletogenic cells (PubMed:9119111). Continues to be expressed during chondrocyte lineage progression, except in terminally differentiating growth plate chondrocytes (PubMed:9119111). Also expressed in some non-chondrogenic tissues such as notochord, otic vesicle and neural tube (PubMed:9119111). In the developing lung, expressed at the distal tips of the branching epithelium as branching occurs and is down-regulated starting at embryonic day (E)16.5, at the onset of terminal differentiation of type 1 and type 2 alveolar cells (PubMed:24191021). Upon lipid starvation conditions, expression is activated by FOXO (FOXO1 and FOXO3). The transactivation domains TAM and TAC (for transactivation domain in the middle and at the C-terminus, respectively) are required to contact transcriptional coactivators and basal transcriptional machinery components and thereby induce gene transactivation. The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. The PQA region (for proline, glutamine and alanine-rich) helps stabilize SOX9 and facilitates transactivation. It lacks intrinsic transactivation capability. Acetylated; acetylation impairs nuclear localization and ability to transactivate expression of target genes (PubMed:26910618). Deacetylated by SIRT1 (PubMed:26910618). Phosphorylation at Ser-64 and Ser-211 by PKA increases transcriptional activity and may help delay chondrocyte maturation downstream of PTHLH/PTHrP signaling (PubMed:10805756, PubMed:11120880). Phosphorylation at either Ser-64 or Ser-211 is required for sumoylation, but phosphorylation is not dependent on sumoylation (PubMed:29644115). Phosphorylated on tyrosine residues; tyrosine dephosphorylation by PTPN11/SHP2 blocks SOX9 phosphorylation by PKA and subsequent SUMOylation (PubMed:29644115). Sumoylated; phosphorylation at either Ser-64 or Ser-211 is required for sumoylation (PubMed:29644115). Sumoylation is induced by BMP signaling pathway (PubMed:29644115). Ubiquitinated; ubiquitination leads to proteasomal degradation and is negatively regulated by DDRGK1. Perinatal lethality, with cleft palate, as well as hypoplasia and bending of many skeletal structures derived from cartilage precursors (PubMed:11371614). Heterozygous mice die shortly after birth and display skeletal malformations caused by impaired precartilaginous condensations (PubMed:11371614). In embryonic day 12.5 dpc heterozygotes embryos, skeletal elements are smaller (PubMed:11371614, PubMed:11857796). In 14.5 dpc heterozygous embryos, bending of radius, ulna and tibia cartilages is already prominent (PubMed:11371614). Premature mineralization is observed in many bones, including vertebrae and some craniofacial bones in 18.5 dpc heterozygous embryos (PubMed:11371614). Conditional deletion in undifferentiated mesenchymal cells of limb buds before mesenchymal condensations results in a complete absence of both cartilage and bone, while markers for the different axes of limb development show a normal pattern of expression (PubMed:12414734). Conditional deletion in undifferentiated mesenchymal cells of limb buds after chondrogenic mesenchymal condensations causes a severe generalized chondrodysplasia, in which most prechondrocytes are arrested as condensed mesenchymal cells and do not undergo overt differentiation into chondrocytes (PubMed:12414734). Conditional deletion in differentiated growth plate chondrocytes results in severe dwarfism caused by shortened columnar zones in growth plates, leading to an absence of chondrocyte enlargement (PubMed:22421045). Conditional deletion in epithelial cells leads to severe branching defects in the lung (PubMed:24191021). negative regulation of transcription from RNA polymerase II promoter transcription regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding enhancer sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding skeletal system development cartilage condensation ossification branching involved in ureteric bud morphogenesis cell fate specification epithelial to mesenchymal transition tissue homeostasis positive regulation of protein phosphorylation hair follicle development morphogenesis of an epithelium positive regulation of mesenchymal cell proliferation chondrocyte differentiation chondrocyte development negative regulation of immune system process heart valve development heart valve morphogenesis aortic valve morphogenesis heart valve formation endocardial cushion morphogenesis chondrocyte differentiation involved in endochondral bone morphogenesis chondrocyte hypertrophy DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex nucleosome assembly chromatin remodeling regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cytoskeleton organization signal transduction epidermal growth factor receptor signaling pathway Notch signaling pathway spermatogenesis central nervous system development heart development beta-catenin binding positive regulation of cell proliferation negative regulation of cell proliferation male gonad development regulation of gene expression regulation of cell cycle process positive regulation of gene expression negative regulation of gene expression positive regulation of epithelial cell migration neural crest cell development neural crest cell fate specification positive regulation of phosphatidylinositol 3-kinase signaling male germ-line sex determination cAMP-mediated signaling cell differentiation regulation of cell adhesion extracellular matrix organization male sex determination negative regulation of ossification negative regulation of bone mineralization prostate gland development negative regulation of epithelial cell differentiation positive regulation of epithelial cell differentiation mammary gland development notochord development otic vesicle formation endocrine pancreas development negative regulation of chondrocyte differentiation positive regulation of chondrocyte differentiation lacrimal gland development macromolecular complex protein kinase A catalytic subunit binding protein localization to nucleus somatic stem cell population maintenance enhancer binding intrahepatic bile duct development regulation of cell proliferation negative regulation of apoptotic process bHLH transcription factor binding protein kinase B signaling sequence-specific DNA binding transcription regulatory region DNA binding nuclear transcription factor complex cell fate commitment regulation of cell differentiation negative regulation of myoblast differentiation positive regulation of protein catabolic process negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter negative regulation of photoreceptor cell differentiation oligodendrocyte differentiation homeostasis of number of cells within a tissue positive regulation of epithelial cell proliferation negative regulation of epithelial cell proliferation cartilage development Sertoli cell differentiation Sertoli cell development astrocyte fate commitment retina development in camera-type eye limb bud formation retinal rod cell differentiation endochondral bone morphogenesis epithelial tube branching involved in lung morphogenesis lung epithelial cell differentiation prostate gland morphogenesis epithelial cell proliferation involved in prostatic bud elongation bronchus cartilage development trachea cartilage development intestinal epithelial structure maintenance regulation of cell proliferation involved in tissue homeostasis positive regulation of cartilage development regulation of branching involved in lung morphogenesis morphogenesis of a branching epithelium lung smooth muscle development macromolecular complex assembly negative regulation of biomineral tissue development ERK1 and ERK2 cascade Harderian gland development cellular response to mechanical stimulus cellular response to retinoic acid cellular response to interleukin-1 cellular response to epidermal growth factor stimulus cellular response to heparin cellular response to transforming growth factor beta stimulus otic vesicle development cellular response to BMP stimulus renal vesicle induction metanephric tubule development ureter development ureter urothelium development ureter smooth muscle cell differentiation ureter morphogenesis metanephric nephron tubule formation negative regulation of canonical Wnt signaling pathway cochlea morphogenesis positive regulation of kidney development positive regulation of branching involved in ureteric bud morphogenesis anterior head development pre-mRNA intronic binding cell-cell adhesion positive regulation of extracellular matrix assembly negative regulation of pri-miRNA transcription from RNA polymerase II promoter positive regulation of male gonad development positive regulation of cell proliferation involved in heart morphogenesis positive regulation of mesenchymal stem cell differentiation regulation of epithelial cell proliferation involved in lung morphogenesis negative regulation of mesenchymal cell apoptotic process uc007med.1 uc007med.2 uc007med.3 uc007med.4 
ENSMUST00000000594.9 C1d ENSMUST00000000594.9 C1D nuclear receptor co-repressor, transcript variant 1 (from RefSeq NM_020558.4) C1D_MOUSE ENSMUST00000000594.1 ENSMUST00000000594.2 ENSMUST00000000594.3 ENSMUST00000000594.4 ENSMUST00000000594.5 ENSMUST00000000594.6 ENSMUST00000000594.7 ENSMUST00000000594.8 NM_020558 O35473 Q5SWJ6 Q61368 Suncor uc007ice.1 uc007ice.2 uc007ice.3 Plays a role in the recruitment of the RNA exosome complex to pre-rRNA to mediate the 3'-5' end processing of the 5.8S rRNA; this function may include MPHOSPH6. Can activate PRKDC not only in the presence of linear DNA but also in the presence of supercoiled DNA. Can induce apoptosis in a p53/TP53 dependent manner. May regulate the TRAX/TSN complex formation. Potentiates transcriptional repression by NR1D1 and THRB (By similarity). Monomer and homodimer. Interacts with EXOSC10; the interaction probably mediates the association with the nuclear form of the RNA exosome. The homodimeric form interacts with TSNAX following gamma- radiation. Interacts with RAC3 (By similarity). Interacts with NR1D1, THRA, THRB, NCOR1 and NCOR2. Nucleus Cytoplasm Nucleus, nucleolus Note=EXOSC10 is required for nucleolar localization. Colocalizes with TSNAX in the nucleus. Kidney, heart, brain, spleen, lung, testis, liver and small intestine. Up-regulated during adipocyte and myogenic differentiation. Phosphorylated by PRKDC. Belongs to the C1D family. maturation of 5.8S rRNA DNA binding transcription corepressor activity RNA binding protein binding nucleus nucleolus cytoplasm rRNA processing apoptotic process ligand-dependent nuclear receptor binding transcriptional repressor complex negative regulation of transcription, DNA-templated uc007ice.1 uc007ice.2 uc007ice.3 
ENSMUST00000000608.8 Gm2a ENSMUST00000000608.8 GM2 ganglioside activator protein (from RefSeq NM_010299.3) ENSMUST00000000608.1 ENSMUST00000000608.2 ENSMUST00000000608.3 ENSMUST00000000608.4 ENSMUST00000000608.5 ENSMUST00000000608.6 ENSMUST00000000608.7 Gm2a NM_010299 Q60648 Q61610 Q61819 SAP3_MOUSE uc007iyw.1 uc007iyw.2 uc007iyw.3 uc007iyw.4 uc007iyw.5 Binds gangliosides and stimulates ganglioside GM2 degradation. It stimulates only the breakdown of ganglioside GM2 and glycolipid GA2 by beta-hexosaminidase A. It extracts single GM2 molecules from membranes and presents them in soluble form to beta- hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3. The large binding pocket can accommodate several single chain phospholipids and fatty acids, GM2A also exhibits some calcium-independent phospholipase activity. Has cholesterol transfer activity (By similarity). Reaction=cholesterol(in) = cholesterol(out); Xref=Rhea:RHEA:39747, ChEBI:CHEBI:16113; Evidence=; Lysosome. Widely expressed. Most abundant in kidney and testis. ganglioside metabolic process beta-N-acetylhexosaminidase activity lipid transporter activity cytoplasm mitochondrion lysosome lipid metabolic process sphingolipid metabolic process ganglioside catabolic process lipid transport learning or memory enzyme activator activity oligosaccharide catabolic process cytoplasmic side of plasma membrane phospholipase activator activity basolateral plasma membrane apical plasma membrane hydrolase activity lipid storage beta-N-acetylgalactosaminidase activity neurological system process neuromuscular process controlling balance positive regulation of hydrolase activity uc007iyw.1 uc007iyw.2 uc007iyw.3 uc007iyw.4 uc007iyw.5 
ENSMUST00000000641.15 Sema4f ENSMUST00000000641.15 sema domain, immunoglobulin domain (Ig), TM domain, and short cytoplasmic domain, transcript variant 1 (from RefSeq NM_011350.5) ENSMUST00000000641.1 ENSMUST00000000641.10 ENSMUST00000000641.11 ENSMUST00000000641.12 ENSMUST00000000641.13 ENSMUST00000000641.14 ENSMUST00000000641.2 ENSMUST00000000641.3 ENSMUST00000000641.4 ENSMUST00000000641.5 ENSMUST00000000641.6 ENSMUST00000000641.7 ENSMUST00000000641.8 ENSMUST00000000641.9 NM_011350 Q505G0 Q9R1Y1 Q9Z123 SEM4F_MOUSE Semaw uc012ent.1 uc012ent.2 uc012ent.3 This gene encodes a member of semaphorin family of membrane-bound and secreted proteins that are involved in guiding axonal growth. The encoded protein is a transmembrane protein localized to the glutamatergic synapses via its association with a synapse-associated scaffolding protein. In oligodendrocyte precursor cells, the encoded protein contributes to the outward migration and differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2015]. Probable cell surface receptor that regulates oligodendroglial precursor cell migration (PubMed:21945643). Might also regulate differentiation of oligodendroglial precursor cells (By similarity). Has growth cone collapse activity against retinal ganglion-cell axons (By similarity). Interacts (via PDZ-binding motif) with DLG4/SAP90 (via PDZ domain 2); this interaction may promote translocation of DLG4/SAP90 to the membrane. Cell membrane ; Single-pass type I membrane protein Postsynaptic density Perikaryon Cell projection, dendrite Note=Colocalizes with DLG4 at synapses. Expressed throughout the adult brain, where it shows particularly strong expression in the hippocampus, corpus callosum, granular layer and deep nuclei of the cerebellum, and the mitral layer of the olfactory bulb (at protein level) (PubMed:21945643). At the cellular level, detected in neuronal precursors, postmitotic neurons, pyramidal neurons, and glial cells including mature oligodendocytes and oligodendroglial precursor cells (at protein level) (PubMed:21945643). During 14 dpc expression is abundant in the cerebral cortex, hippocampus, brain stem and the mitral and glomerular layers of the olfactory bulb, expression in the olfactory bulb remains evident into adulthood (at protein level) (PubMed:21945643). Expressed in proliferative layers and oligodendroglial precursor cells (OPCs) during embryonic development (14-16 dpc), in regions such as the ganglionic eminence, mamillothalamic tract, neuroepithelium, and cortical plate (at protein level) (PubMed:21945643). Expressed in migrating OPCs along the optic nerve at 16.5 dpc (at protein level) (PubMed:21945643). During late embryonic development (18 dpc) expression is abundant in pyramidal and granular cells of the hippocampus, and OPCs in the migratory pathway and embryonic fimbria of the hippocampus (at protein level) (PubMed:21945643). At postnatal day 1 (P1) expression is abundant in the corpus callosum, anterior commissure, and several nerve nuclei in the hindbrain, such as the oculomotor nucleus, the periaqueductal gray area, the facial nucleus, the colliculli, and the raphe and pararubral nuclei, as well as in the proliferative layers of the anterior subventricular zone, with expression remaining evident into adulthood (at protein level) (PubMed:21945643). A significant abundance of protein is apparent in the arcuate and posterior hypothalamic nuclei at P10, and additionally in hypothalamic OPCs, expression becomes evident in the arcuate nucleus at P15 (at protein level) (PubMed:21945643). Abundant expression throughout the embryonic brain from 14 dpc onwards with decreased expression in all areas of the brain in adulthood, however expression remains relatively abundant (PubMed:21945643). Belongs to the semaphorin family. neural crest cell migration protein binding extracellular space endoplasmic reticulum plasma membrane integral component of plasma membrane multicellular organism development nervous system development axon guidance postsynaptic density membrane integral component of membrane cell junction cell differentiation semaphorin receptor binding positive regulation of cell migration dendrite negative regulation of axon extension retinal ganglion cell axon guidance cell projection perikaryon synapse postsynaptic membrane chemorepellent activity negative regulation of axon extension involved in axon guidance negative chemotaxis semaphorin-plexin signaling pathway uc012ent.1 uc012ent.2 uc012ent.3 
ENSMUST00000000642.11 Hk2 ENSMUST00000000642.11 hexokinase 2 (from RefSeq NM_013820.4) ENSMUST00000000642.1 ENSMUST00000000642.10 ENSMUST00000000642.2 ENSMUST00000000642.3 ENSMUST00000000642.4 ENSMUST00000000642.5 ENSMUST00000000642.6 ENSMUST00000000642.7 ENSMUST00000000642.8 ENSMUST00000000642.9 HXK2_MOUSE Hk2 NM_013820 O08528 uc009cll.1 uc009cll.2 uc009cll.3 uc009cll.4 Catalyzes the phosphorylation of hexose, such as D-glucose and D-fructose, to hexose 6-phosphate (D-glucose 6-phosphate and D- fructose 6-phosphate, respectively) (By similarity). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to D-glucose 6-phosphate (By similarity). Plays a key role in maintaining the integrity of the outer mitochondrial membrane by preventing the release of apoptogenic molecules from the intermembrane space and subsequent apoptosis (PubMed:18350175). Reaction=ATP + D-hexose = ADP + D-hexose 6-phosphate + H(+); Xref=Rhea:RHEA:22740, ChEBI:CHEBI:4194, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:61567, ChEBI:CHEBI:456216; EC=2.7.1.1; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22741; Evidence=; Reaction=ATP + D-fructose = ADP + D-fructose 6-phosphate + H(+); Xref=Rhea:RHEA:16125, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:37721, ChEBI:CHEBI:61527, ChEBI:CHEBI:456216; EC=2.7.1.1; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16126; Evidence=; Reaction=ATP + D-glucose = ADP + D-glucose 6-phosphate + H(+); Xref=Rhea:RHEA:17825, ChEBI:CHEBI:4167, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:61548, ChEBI:CHEBI:456216; EC=2.7.1.1; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:17826; Evidence=; Hexokinase activity is specifically inhibited by 2,6-disubstituted glucosamines. Carbohydrate metabolism; hexose metabolism. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 1/4. Monomer (By similarity). Interacts with TIGAR; the interaction increases hexokinase activity in a hypoxia- and HIF1A-dependent manner (By similarity). Mitochondrion outer membrane ; Peripheral membrane protein Cytoplasm, cytosol Note=The mitochondrial-binding peptide (MBP) region promotes association with the mitochondrial outer membrane. The interaction with the mitochondrial outer membrane via the mitochondrial-binding peptide (MBP) region promotes higher stability of the protein. Release from the mitochondrial outer membrane into the cytosol induces permeability transition pore (PTP) opening and apoptosis. Predominantly expressed in skeletal muscle, heart and adipose tissues. The N- and C-terminal halves of the protein contain a hexokinase domain. In contrast to hexokinase-1 and -3 (HK1 and HK3, respectively), both hexokinase domains display catalytic activity. The region connecting the two hexokinase domains is required for the catalytic activity of the N-terminal hexokinase domain. The N-terminal half regulates stability of the whole enzyme. Embryonic lethality around E7.5 stage probably caused by the absence of hexokinase activity. Belongs to the hexokinase family. nucleotide binding response to hypoxia cellular glucose homeostasis response to ischemia catalytic activity glucokinase activity hexokinase activity protein binding ATP binding glucose binding cytoplasm mitochondrion mitochondrial outer membrane cytosol plasma membrane carbohydrate metabolic process fructose 6-phosphate metabolic process glucose metabolic process glycolytic process lactation metabolic process apoptotic mitochondrial changes fructokinase activity membrane kinase activity phosphorylation sarcoplasmic reticulum transferase activity phosphotransferase activity, alcohol group as acceptor mannokinase activity hexose metabolic process negative regulation of mitochondrial membrane permeability positive regulation of angiogenesis regulation of glucose import carbohydrate phosphorylation glucose 6-phosphate metabolic process establishment of protein localization to mitochondrion maintenance of protein location in mitochondrion positive regulation of mitophagy in response to mitochondrial depolarization cellular response to leukemia inhibitory factor negative regulation of reactive oxygen species metabolic process uc009cll.1 uc009cll.2 uc009cll.3 uc009cll.4 
ENSMUST00000000687.9 Haao ENSMUST00000000687.9 3-hydroxyanthranilate 3,4-dioxygenase (from RefSeq NM_025325.2) 3HAO_MOUSE ENSMUST00000000687.1 ENSMUST00000000687.2 ENSMUST00000000687.3 ENSMUST00000000687.4 ENSMUST00000000687.5 ENSMUST00000000687.6 ENSMUST00000000687.7 ENSMUST00000000687.8 NM_025325 Q52L88 Q78JT3 uc008dsk.1 uc008dsk.2 uc008dsk.3 Catalyzes the oxidative ring opening of 3-hydroxyanthranilate to 2-amino-3-carboxymuconate semialdehyde, which spontaneously cyclizes to quinolinate. Reaction=3-hydroxyanthranilate + O2 = (2Z,4Z)-2-amino-3-carboxymuconate 6-semialdehyde; Xref=Rhea:RHEA:17953, ChEBI:CHEBI:15379, ChEBI:CHEBI:36559, ChEBI:CHEBI:77612; EC=1.13.11.6; Evidence=; Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; Cofactor biosynthesis; NAD(+) biosynthesis; quinolinate from L-kynurenine: step 3/3. Monomer. Cytoplasm, cytosol No visible phenotype. Mice were born at the expected Mendelian ratio and are normal. They however show very high levels of 3-hydroxyanthranilate compared to wild-type mice. Belongs to the 3-HAO family. 3-hydroxyanthranilate 3,4-dioxygenase activity iron ion binding cytoplasm cytosol tryptophan catabolic process ferrous iron binding NAD biosynthetic process response to zinc ion oxidoreductase activity pyridine nucleotide biosynthetic process quinolinate biosynthetic process oxygen binding mitochondrial membrane 'de novo' NAD biosynthetic process from tryptophan anthranilate metabolic process response to cadmium ion metal ion binding quinolinate metabolic process dioxygenase activity oxidation-reduction process neuron cellular homeostasis uc008dsk.1 uc008dsk.2 uc008dsk.3 
ENSMUST00000000696.7 Cd52 ENSMUST00000000696.7 CD52 antigen (from RefSeq NM_013706.2) CD52_MOUSE Cdw52 ENSMUST00000000696.1 ENSMUST00000000696.2 ENSMUST00000000696.3 ENSMUST00000000696.4 ENSMUST00000000696.5 ENSMUST00000000696.6 Mb7 NM_013706 Q64389 uc008vea.1 uc008vea.2 uc008vea.3 uc008vea.4 May play a role in carrying and orienting carbohydrate, as well as having a more specific role. Cell membrane; Lipid-anchor, GPI-anchor. Expressed on lymphohematopoietic tissues, including thymus, spleen, and bone marrow, but not in liver, kidney, and brain. plasma membrane positive regulation of cytosolic calcium ion concentration response to bacterium membrane anchored component of membrane sperm midpiece uc008vea.1 uc008vea.2 uc008vea.3 uc008vea.4 
ENSMUST00000000707.9 Loxl3 ENSMUST00000000707.9 lysyl oxidase-like 3 (from RefSeq NM_013586.5) ENSMUST00000000707.1 ENSMUST00000000707.2 ENSMUST00000000707.3 ENSMUST00000000707.4 ENSMUST00000000707.5 ENSMUST00000000707.6 ENSMUST00000000707.7 ENSMUST00000000707.8 LOXL3_MOUSE Lor2 Loxl3 NM_013586 Q91VN8 Q9JJ39 Q9Z175 uc009clt.1 uc009clt.2 uc009clt.3 Protein-lysine 6-oxidase that mediates the oxidation of peptidyl lysine residues to allysine in target proteins (PubMed:26954549). Catalyzes the post-translational oxidative deamination of peptidyl lysine residues in precursors of elastin and different types of collagens, a prerequisite in the formation of cross- links between collagens and elastin (PubMed:26307084). Required for somite boundary formation by catalyzing oxidation of fibronectin (FN1), enhancing integrin signaling in myofibers and their adhesion to the myotendinous junction (MTJ) (PubMed:26954549). Acts as a regulator of inflammatory response by inhibiting differentiation of naive CD4(+) T- cells into T-helper Th17 or regulatory T-cells (Treg): acts by interacting with STAT3 in the nucleus and catalyzing both deacetylation and oxidation of lysine residues on STAT3, leading to disrupt STAT3 dimerization and inhibit STAT3 transcription activity (PubMed:28065600). Oxidation of lysine residues to allysine on STAT3 preferentially takes place on lysine residues that are acetylated (By similarity). Also able to catalyze deacetylation of lysine residues on STAT3 (By similarity). Reaction=H2O + L-lysyl-[protein] + O2 = (S)-2-amino-6-oxohexanoyl- [protein] + H2O2 + NH4(+); Xref=Rhea:RHEA:24544, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:12448, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:28938, ChEBI:CHEBI:29969, ChEBI:CHEBI:131803; EC=1.4.3.13; Evidence=; Reaction=H2O + N(6)-acetyl-L-lysyl-[protein] + O2 = (S)-2-amino-6- oxohexanoyl-[protein] + acetamide + H2O2; Xref=Rhea:RHEA:51648, Rhea:RHEA-COMP:10731, Rhea:RHEA-COMP:12448, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:27856, ChEBI:CHEBI:61930, ChEBI:CHEBI:131803; Evidence=; Name=Cu cation; Xref=ChEBI:CHEBI:23378; Evidence=; Name=lysine tyrosylquinone residue; Xref=ChEBI:CHEBI:20489; Evidence=; Note=Contains 1 lysine tyrosylquinone. ; Secreted, extracellular space Cytoplasm Nucleus Note=It is unclear how LOXL3 is both intracellular (cytoplasmic and nuclear) and extracellular: it contains a clear signal sequence and is predicted to localize in the extracellular medium. However, the intracellular location is clearly reported and at least another protein of the family (LOXL2) also has intracellular and extracellular localization despite the presence of a signal sequence. Expressed in palate: predominantly present in the palate mesenchyme and tongue (at protein level) (PubMed:26307084). In spine, expressed in the original intervertebral disk, cartilage primordia, anterior and posterior longitudinal ligaments, meninges of spinal cord, lung and heart (PubMed:26307084). In eyes, strongly expressed in the skin of the eyelid and weakly expressed in the cornea and sclera (PubMed:26307084). In lung, predominantly expressed in the pulmonary mesenchyme (PubMed:27645581). In developing muscle, expressed at myofiber ends (at protein level) (PubMed:26954549). The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine. Perinatal lethality, due to impaired development of the palate shelves and abnormalities in the cartilage primordia of the thoracic vertebrae (PubMed:26307084, PubMed:26954549). Cleft palates and spinal deformities are caused by the decreased collagen cross-links in the palate and spine (PubMed:26307084). In addition, mice display a reduction in the saccular space in the lungs at 18.5 dpc (PubMed:26307084, PubMed:27645581). Lungs also show reduced lung volumes and weights and deformed and smaller thoracic cavities (PubMed:27645581). Excess elastic fibers are detected, possibly due to an increased expression of Loxl4 (PubMed:27645581). Embryos show defects in the somitic boundaries, due to defects in myofibers that anchor prematurely or overshoot to adjacent somites, and lack tension (PubMed:26954549). Splenocytes show increased number of T-cells into T- helper Th17 cells and constitutive acetylation of Stat3 (PubMed:28065600). Belongs to the lysyl oxidase family. epithelial to mesenchymal transition fibronectin binding protein-lysine 6-oxidase activity scavenger receptor activity copper ion binding extracellular region extracellular space nucleus cytoplasm endocytosis inflammatory response membrane oxidoreductase activity oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor peptidyl-lysine oxidation spinal cord development collagen fibril organization lung development negative regulation of transcription, DNA-templated metal ion binding oxidation-reduction process palate development somite development fibronectin fibril organization negative regulation of T-helper 17 cell lineage commitment positive regulation of integrin-mediated signaling pathway uc009clt.1 uc009clt.2 uc009clt.3 
ENSMUST00000000717.9 Tcl1b5 ENSMUST00000000717.9 T cell leukemia/lymphoma 1B, 5, transcript variant 2 (from RefSeq NM_013776.2) ENSMUST00000000717.1 ENSMUST00000000717.2 ENSMUST00000000717.3 ENSMUST00000000717.4 ENSMUST00000000717.5 ENSMUST00000000717.6 ENSMUST00000000717.7 ENSMUST00000000717.8 NM_013776 Q3UT92 Q3UT92_MOUSE Tcl1b5 uc007oxy.1 uc007oxy.2 uc007oxy.3 Belongs to the TCL1 family. protein serine/threonine kinase activator activity positive regulation of protein serine/threonine kinase activity uc007oxy.1 uc007oxy.2 uc007oxy.3 
ENSMUST00000000724.15 Kat2b ENSMUST00000000724.15 K(lysine) acetyltransferase 2B, transcript variant 3 (from RefSeq NR_151733.1) ENSMUST00000000724.1 ENSMUST00000000724.10 ENSMUST00000000724.11 ENSMUST00000000724.12 ENSMUST00000000724.13 ENSMUST00000000724.14 ENSMUST00000000724.2 ENSMUST00000000724.3 ENSMUST00000000724.4 ENSMUST00000000724.5 ENSMUST00000000724.6 ENSMUST00000000724.7 ENSMUST00000000724.8 ENSMUST00000000724.9 KAT2B_MOUSE Kat2b NR_151733 Pcaf Q3U142 Q640M9 Q9JHD1 uc008czp.1 uc008czp.2 uc008czp.3 uc008czp.4 Functions as a histone acetyltransferase (HAT) to promote transcriptional activation. Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles. Also acetylates non-histone proteins, such as ACLY, MAPRE1/EB1, PLK4, RRP9/U3-55K and TBX5. Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-BMAL1 and CLOCK-BMAL1 heterodimers. Involved in heart and limb development by mediating acetylation of TBX5, acetylation regulating nucleocytoplasmic shuttling of TBX5. Acts as a negative regulator of centrosome amplification by mediating acetylation of PLK4. Acetylates RRP9/U3-55K, a core subunit of the U3 snoRNP complex, impairing pre-rRNA processing. Acetylates MAPRE1/EB1, promoting dynamic kinetochore-microtubule interactions in early mitosis. Also acetylates spermidine. Reaction=acetyl-CoA + L-lysyl-[protein] = CoA + H(+) + N(6)-acetyl-L- lysyl-[protein]; Xref=Rhea:RHEA:45948, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10731, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:61930; EC=2.3.1.48; Evidence=; Reaction=acetyl-CoA + spermidine = CoA + H(+) + N(8)-acetylspermidine; Xref=Rhea:RHEA:28270, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57834, ChEBI:CHEBI:58535; EC=2.3.1.57; Evidence=; Interacts with BCAS3. Interacts with SIRT1. Interacts with EP300, CREBBP and DDX17. Component of a large chromatin remodeling complex, at least composed of MYSM1, KAT2B/PCAF, RBM10 and KIF11/TRIP5. Interacts with KLF1; the interaction does not acetylate KLF1 and there is no enhancement of its transactivational activity. Interacts with NFE4. Interacts with MECOM. Interacts with NR2C2 (hypophosphorylated and unsumoylated form); the interaction promotes the transactivation activity of NR2C2. Interacts with NFE4. Interacts with MECOM. Interacts with E2F1; the interaction acetylates E2F1 augmenting its DNA-binding and transcriptional activity. Interacts with NPAS2, BMAL1 and CLOCK (By similarity). Interacts (unsumoylated form) with NR2C1; the interaction promotes transactivation activity. Interacts with CEBPB (By similarity). Interacts with NR4A3 (PubMed:12709428). Interacts with TBX5 (By similarity). Interacts with PLK4 (By similarity). Interacts with RB1; this interaction leads to RB1 acetylation (PubMed:20940255). Q9JHD1; Q505F1: Nr2c1; NbExp=3; IntAct=EBI-2325611, EBI-15617004; Nucleus Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Note=Mainly localizes to the nucleus. Also localizes to centrosomes in late G1 and around the G1/S transition, coinciding with the onset of centriole formation. Localizes to sites of DNA damage. Expression is low during embryogenesis and becomes up-regulated in some adult tissues including heart and skeletal muscle. No visible phenotype (PubMed:11017084). Belongs to the acetyltransferase family. GCN5 subfamily. histone acetyltransferase complex kinetochore nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding chromatin binding transcription cofactor activity transcription coactivator activity diamine N-acetyltransferase activity histone acetyltransferase activity lysine N-acetyltransferase activity, acting on acetyl phosphate as donor cyclin-dependent protein serine/threonine kinase inhibitor activity protein binding nucleus nucleoplasm Ada2/Gcn5/Ada3 transcription activator complex cytoplasm centrosome microtubule organizing center cytosol cytoskeleton chromatin remodeling regulation of transcription, DNA-templated protein acetylation cell cycle heart development N-acetyltransferase activity transcription factor binding negative regulation of cell proliferation regulation of protein ADP-ribosylation positive regulation of neuron projection development acetyltransferase activity histone acetylation transferase activity transferase activity, transferring acyl groups N-terminal peptidyl-lysine acetylation internal peptidyl-lysine acetylation peptidyl-lysine acetylation protein kinase binding A band I band cellular response to insulin stimulus macromolecular complex histone acetyltransferase binding positive regulation of chromatin binding positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter actomyosin histone deacetylase binding histone H3 acetylation histone H3-K9 acetylation negative regulation of cyclin-dependent protein serine/threonine kinase activity positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter negative regulation of centriole replication rhythmic process limb development peptide-lysine-N-acetyltransferase activity positive regulation of histone H3-K14 acetylation positive regulation of histone H3-K9 acetylation uc008czp.1 uc008czp.2 uc008czp.3 uc008czp.4 
ENSMUST00000000727.4 Rab5b ENSMUST00000000727.4 RAB5B, member RAS oncogene family (from RefSeq NM_177411.4) ENSMUST00000000727.1 ENSMUST00000000727.2 ENSMUST00000000727.3 NM_177411 P35239 P35277 P61021 RAB5B_MOUSE uc007hnv.1 uc007hnv.2 uc007hnv.3 uc007hnv.4 uc007hnv.5 Protein transport (By similarity). Probably involved in vesicular traffic (By similarity). Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.2; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19670; Evidence=; Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP. Binds EEA1. Interacts with RIN2 and RIN3, which probably regulate its pathway, possibly by acting as GEFs (By similarity). Interacts with GDI1, GDI2, CHML and CHM; phosphorylation at Ser-84 disrupts this interaction (By similarity). P61021; Q5S007: LRRK2; Xeno; NbExp=2; IntAct=EBI-8320093, EBI-5323863; Cell membrane ; Lipid-anchor ; Cytoplasmic side Early endosome membrane ; Lipid-anchor Melanosome Phosphorylation of Ser-84 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including CHM, CHML and RAB GDP dissociation inhibitors GDI1 and GDI2. Belongs to the small GTPase superfamily. Rab family. nucleotide binding GTPase activity protein binding GTP binding endosome early endosome plasma membrane intracellular protein transport endocytosis endosome organization protein transport membrane GDP binding antigen processing and presentation regulation of endocytosis endocytic vesicle GTP-dependent protein binding early endosome membrane Rab protein signal transduction melanosome intracellular membrane-bounded organelle plasma membrane to endosome transport extracellular exosome anchored component of synaptic vesicle membrane uc007hnv.1 uc007hnv.2 uc007hnv.3 uc007hnv.4 uc007hnv.5 
ENSMUST00000000755.15 Sult5a1 ENSMUST00000000755.15 sulfotransferase family 5A, member 1 (from RefSeq NM_020564.3) ENSMUST00000000755.1 ENSMUST00000000755.10 ENSMUST00000000755.11 ENSMUST00000000755.12 ENSMUST00000000755.13 ENSMUST00000000755.14 ENSMUST00000000755.2 ENSMUST00000000755.3 ENSMUST00000000755.4 ENSMUST00000000755.5 ENSMUST00000000755.6 ENSMUST00000000755.7 ENSMUST00000000755.8 ENSMUST00000000755.9 NM_020564 Q91X36 Q91X36_MOUSE Sult5a1 uc009nuh.1 uc009nuh.2 uc009nuh.3 uc009nuh.4 Belongs to the sulfotransferase 1 family. molecular_function cellular_component sulfotransferase activity biological_process transferase activity uc009nuh.1 uc009nuh.2 uc009nuh.3 uc009nuh.4 
ENSMUST00000000756.6 Rpl13 ENSMUST00000000756.6 ribosomal protein L13 (from RefSeq NM_016738.5) ENSMUST00000000756.1 ENSMUST00000000756.2 ENSMUST00000000756.3 ENSMUST00000000756.4 ENSMUST00000000756.5 NM_016738 P47963 Q9CRZ9 Q9DCH1 RL13_MOUSE uc009nue.1 uc009nue.2 uc009nue.3 uc009nue.4 Component of the large ribosomal subunit (PubMed:36517592). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:36517592). Component of the large ribosomal subunit. Cytoplasm Belongs to the eukaryotic ribosomal protein eL13 family. structural constituent of ribosome nucleolus endoplasmic reticulum cytosol ribosome translation cytosolic large ribosomal subunit uc009nue.1 uc009nue.2 uc009nue.3 uc009nue.4 
ENSMUST00000000759.9 Chmp1a ENSMUST00000000759.9 charged multivesicular body protein 1A (from RefSeq NM_145606.3) CHM1A_MOUSE Chmp1 ENSMUST00000000759.1 ENSMUST00000000759.2 ENSMUST00000000759.3 ENSMUST00000000759.4 ENSMUST00000000759.5 ENSMUST00000000759.6 ENSMUST00000000759.7 ENSMUST00000000759.8 NM_145606 Pcoln3 Q3TW57 Q921W0 uc009nuk.1 uc009nuk.2 uc009nuk.3 uc009nuk.4 Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis. ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in cytokinesis. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. May also be involved in chromosome condensation. Targets the Polycomb group (PcG) protein BMI1/PCGF4 to regions of condensed chromatin. May play a role in stable cell cycle progression and in PcG gene silencing (By similarity). Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentially. Self-associates. Interacts with CHMP1B. Interacts with VPS4A. Interacts with VPS4B. Interacts with PHF1. Interacts with IST1. Interacts with MITD1 (By similarity). Cytoplasm Endosome membrane ; Peripheral membrane protein Nucleus matrix Note=The cytoplasmic form is partially membrane-associated and localizes to early endosomes. The nuclear form remains associated with the chromosome scaffold during mitosis. On overexpression, it localizes to nuclear bodies characterized by nuclease-resistant condensed chromatin. Highly expressed in adult heart, kidney and liver. Expressed at lower levels in adult colon, spleen, lung, brain, testis and muscle. Also expressed in myoblasts and embryo fibroblasts. Belongs to the SNF7 family. condensed nuclear chromosome ESCRT III complex protein binding nucleus cytoplasm endosome early endosome multivesicular body microtubule organizing center nucleus organization vacuolar transport cell cycle mitotic chromosome condensation mitotic metaphase plate congression endosome membrane regulation of centrosome duplication endomembrane system protein transport membrane vesicle-mediated transport nuclear matrix gene silencing protein domain specific binding endosome transport via multivesicular body sorting pathway identical protein binding protein homodimerization activity late endosome to vacuole transport negative regulation of cell cycle negative regulation of transcription, DNA-templated cell division regulation of mitotic spindle assembly uc009nuk.1 uc009nuk.2 uc009nuk.3 uc009nuk.4 
ENSMUST00000000769.14 Serpinf1 ENSMUST00000000769.14 serine (or cysteine) peptidase inhibitor, clade F, member 1 (from RefSeq NM_011340.3) ENSMUST00000000769.1 ENSMUST00000000769.10 ENSMUST00000000769.11 ENSMUST00000000769.12 ENSMUST00000000769.13 ENSMUST00000000769.2 ENSMUST00000000769.3 ENSMUST00000000769.4 ENSMUST00000000769.5 ENSMUST00000000769.6 ENSMUST00000000769.7 ENSMUST00000000769.8 ENSMUST00000000769.9 NM_011340 O70629 O88691 P97298 PEDF_MOUSE Pedf Sdf3 uc007kdp.1 uc007kdp.2 uc007kdp.3 Neurotrophic protein; induces extensive neuronal differentiation in retinoblastoma cells. Potent inhibitor of angiogenesis. As it does not undergo the S (stressed) to R (relaxed) conformational transition characteristic of active serpins, it exhibits no serine protease inhibitory activity. Interacts with PNPLA2; this interaction stimulates the phospholipase A2 activity of PNPLA2. Secreted. Melanosome Highly expressed in the liver, gastric glandular mucosa and renal tubules. It is also expressed in the brain, heart, lung retina and testes. First detected at 12.5 dpc in cartilage primordium, it is present in the osseous matrix of developing limbs, vertebrae, ribs and skull. At 16.5 dpc it is detected in bone matrix and smooth muscle, and at lower levels in connective tissue, bronchial epithelial cells, metanephron microtubules, and skin. Belongs to the serpin family. kidney development serine-type endopeptidase inhibitor activity extracellular region basement membrane extracellular space aging short-term memory response to acidic pH negative regulation of endothelial cell migration negative regulation of gene expression negative regulation of endopeptidase activity positive regulation of neuron projection development negative regulation of angiogenesis axon melanosome ovulation cycle neuronal cell body axon hillock response to arsenic-containing substance perinuclear region of cytoplasm negative regulation of inflammatory response positive regulation of neurogenesis retina development in camera-type eye negative regulation of epithelial cell proliferation involved in prostate gland development cellular response to cobalt ion cellular response to retinoic acid cellular response to glucose stimulus cellular response to dexamethasone stimulus negative regulation of neuron death uc007kdp.1 uc007kdp.2 uc007kdp.3 
ENSMUST00000000776.15 Tubgcp3 ENSMUST00000000776.15 tubulin, gamma complex component 3 (from RefSeq NM_198031.1) ENSMUST00000000776.1 ENSMUST00000000776.10 ENSMUST00000000776.11 ENSMUST00000000776.12 ENSMUST00000000776.13 ENSMUST00000000776.14 ENSMUST00000000776.2 ENSMUST00000000776.3 ENSMUST00000000776.4 ENSMUST00000000776.5 ENSMUST00000000776.6 ENSMUST00000000776.7 ENSMUST00000000776.8 ENSMUST00000000776.9 GCP3_MOUSE Gcp3 NM_198031 P58854 Q6PDQ9 uc009kwd.1 uc009kwd.2 uc009kwd.3 Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. Gamma-tubulin complex is composed of gamma-tubulin, TUBGCP2, TUBGCP3, TUBGCP4, TUBGCP5 and TUBGCP6 (By similarity). Interacts with CDK5RAP2; the interaction is leading to centrosomal localization of TUBTUBGCP3 and CDK5RAP2 (By similarity). Interacts with NIN (via N- terminus); the interaction may promote recruitment of the gamma-tubulin ring complex to the centrosome (PubMed:15784680). Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Belongs to the TUBGCP family. microtubule cytoskeleton organization mitotic cell cycle spindle pole equatorial microtubule organizing center gamma-tubulin complex cytoplasm centrosome centriole microtubule organizing center polar microtubule cytoskeleton microtubule microtubule nucleation gamma-tubulin small complex cytoplasmic microtubule organization gamma-tubulin binding spindle assembly meiotic cell cycle interphase microtubule nucleation by interphase microtubule organizing center microtubule minus-end binding uc009kwd.1 uc009kwd.2 uc009kwd.3 
ENSMUST00000000793.13 Polr3d ENSMUST00000000793.13 polymerase (RNA) III (DNA directed) polypeptide D, transcript variant 1 (from RefSeq NM_025945.3) Bn51t ENSMUST00000000793.1 ENSMUST00000000793.10 ENSMUST00000000793.11 ENSMUST00000000793.12 ENSMUST00000000793.2 ENSMUST00000000793.3 ENSMUST00000000793.4 ENSMUST00000000793.5 ENSMUST00000000793.6 ENSMUST00000000793.7 ENSMUST00000000793.8 ENSMUST00000000793.9 NM_025945 Polr3d Q3U0T3 Q91WD1 Q9CZ02 RPC4_MOUSE uc007unz.1 uc007unz.2 uc007unz.3 uc007unz.4 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (By similarity). Specific peripheric component of RNA polymerase III (Pol III) which synthesizes small non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci. Enables recruitment of Pol III at transcription initiation site and drives transcription initiation from both type 2 and type 3 DNA promoters. Required for efficient transcription termination and reinitiation (By similarity). Pol III plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein- Barr virus-encoded RNAs (EBERs) induce type I interferon and NF-kappa-B through the RIG-I pathway (By similarity). Component of the RNA polymerase III complex consisting of 17 subunits: a ten-subunit horseshoe-shaped catalytic core composed of POLR3A/RPC1, POLR3B/RPC2, POLR1C/RPAC1, POLR1D/RPAC2, POLR3K/RPC10, POLR2E/RPABC1, POLR2F/RPABC2, POLR2H/RPABC3, POLR2K/RPABC4 and POLR2L/RPABC5; a mobile stalk composed of two subunits POLR3H/RPC8 and CRCP/RPC9, protruding from the core and functioning primarily in transcription initiation; and additional subunits homologous to general transcription factors of the RNA polymerase II machinery, POLR3C/RPC3- POLR3F/RPC6-POLR3G/RPC7 heterotrimer required for transcription initiation and POLR3D/RPC4-POLR3E/RPC5 heterodimer involved in both transcription initiation and termination. Nucleus Sumoylation on Lys-141 can serve as a signal to mark misfolded Pol III for proteasomal degradation. Belongs to the eukaryotic RPC4/POLR3D RNA polymerase subunit family. nuclear chromatin immune system process DNA binding chromatin binding DNA-directed 5'-3' RNA polymerase activity nucleus nucleoplasm DNA-directed RNA polymerase III complex cytosol transcription from RNA polymerase III promoter nuclear speck positive regulation of interferon-beta production innate immune response positive regulation of innate immune response defense response to virus RNA polymerase III activity uc007unz.1 uc007unz.2 uc007unz.3 uc007unz.4 
ENSMUST00000000804.7 Ddx3x ENSMUST00000000804.7 DEAD box helicase 3, X-linked (from RefSeq NM_010028.3) D1Pas1-rs2 DDX3X_MOUSE Ddx3 Dead3 ENSMUST00000000804.1 ENSMUST00000000804.2 ENSMUST00000000804.3 ENSMUST00000000804.4 ENSMUST00000000804.5 ENSMUST00000000804.6 Erh NM_010028 O09060 O09143 Q62167 uc009srl.1 uc009srl.2 uc009srl.3 uc009srl.4 Multifunctional ATP-dependent RNA helicase. The ATPase activity can be stimulated by various ribo-and deoxynucleic acids indicative for a relaxed substrate specificity. In vitro can unwind partially double-stranded DNA with a preference for 5'-single-stranded DNA overhangs. Binds RNA G-quadruplex (rG4s) structures, including those located in the 5'-UTR of NRAS mRNA. Involved in many cellular processes, which do not necessarily require its ATPase/helicase catalytic activities. Involved in transcription regulation. Positively regulates CDKN1A/WAF1/CIP1 transcription in an SP1-dependent manner, hence inhibits cell growth. This function requires its ATPase, but not helicase activity. CDKN1A up-regulation may be cell-type specific. Binds CDH1/E-cadherin promoter and represses its transcription. Potentiates HNF4A-mediated MTTP transcriptional activation; this function requires ATPase, but not helicase activity. Facilitates HNF4A acetylation, possibly catalyzed by CREBBP/EP300, thereby increasing the DNA-binding affinity of HNF4 to its response element. In addition, disrupts the interaction between HNF4 and SHP that forms inactive heterodimers and enhances the formation of active HNF4 homodimers. By promoting HNF4A-induced MTTP expression, may play a role in lipid homeostasis. May positively regulate TP53 transcription. Associates with mRNPs, predominantly with spliced mRNAs carrying an exon junction complex (EJC). Involved in the regulation of translation initiation. Not involved in the general process of translation, but promotes efficient translation of selected complex mRNAs, containing highly structured 5'-untranslated regions (UTR). This function depends on helicase activity. Might facilitate translation by resolving secondary structures of 5'-UTRs during ribosome scanning. Alternatively, may act prior to 43S ribosomal scanning and promote 43S pre-initiation complex entry to mRNAs exhibiting specific RNA motifs, by performing local remodeling of transcript structures located close to the cap moiety. Independently of its ATPase activity, promotes the assembly of functional 80S ribosomes and disassembles from ribosomes prior to the translation elongation process. Positively regulates the translation of cyclin E1/CCNE1 mRNA and consequently promotes G1/S-phase transition during the cell cycle. May activate TP53 translation. Required for endoplasmic reticulum stress-induced ATF4 mRNA translation. Independently of its ATPase/helicase activity, enhances IRES-mediated translation; this activity requires interaction with EIF4E. Independently of its ATPase/helicase activity, has also been shown specifically repress cap-dependent translation, possibly by acting on translation initiation factor EIF4E. Involved in innate immunity, acting as a viral RNA sensor. Binds viral RNAs and promotes the production of type I interferon (IFN-alpha and IFN-beta). Potentiate MAVS/RIGI-mediated induction of IFNB in early stages of infection (By similarity). Enhances IFNB1 expression via IRF3/IRF7 pathway and participates in NFKB activation in the presence of MAVS and TBK1 (PubMed:30475900). Involved in TBK1 and IKBKE-dependent IRF3 activation leading to IFNB induction, acts as a scaffolding adapter that links IKBKE and IRF3 and coordinates their activation. Involved in the TLR7/TLR8 signaling pathway leading to type I interferon induction, including IFNA4 production. In this context, acts as an upstream regulator of IRF7 activation by MAP3K14/NIK and CHUK/IKKA. Stimulates CHUK autophosphorylation and activation following physiological activation of the TLR7 and TLR8 pathways, leading to MAP3K14/CHUK- mediated activatory phosphorylation of IRF7. Also stimulates MAP3K14/CHUK-dependent NF-kappa-B signaling. Negatively regulates TNF- induced IL6 and IL8 expression, via the NF-kappa-B pathway. May act by interacting with RELA/p65 and trapping it in the cytoplasm. May also bind IFNB promoter; the function is independent of IRF3 (By similarity). Involved in both stress and inflammatory responses (PubMed:31511697). Independently of its ATPase/helicase activity, required for efficient stress granule assembly through its interaction with EIF4E, hence promotes survival in stressed cells (By similarity). Independently of its helicase activity, regulates NLRP3 inflammasome assembly through interaction with NLRP3 and hence promotes cell death by pyroptosis during inflammation. This function is independent of helicase activity. Therefore DDX3X availability may be used to interpret stress signals and choose between pro-survival stress granules and pyroptotic NLRP3 inflammasomes and serve as a live-or-die checkpoint in stressed cells (PubMed:31511697). In association with GSK3A/B, negatively regulates extrinsic apoptotic signaling pathway via death domain receptors, including TNFRSF10B, slowing down the rate of CASP3 activation following death receptor stimulation. Cleavage by caspases may inactivate DDX3X and relieve the inhibition. Independently of its ATPase/helicase activity, allosteric activator of CSNK1E. Stimulates CSNK1E-mediated phosphorylation of DVL2, thereby involved in the positive regulation of Wnt/beta-catenin signaling pathway. Also activates CSNK1A1 and CSNK1D in vitro, but it is uncertain if these targets are physiologically relevant. ATPase and casein kinase- activating functions are mutually exclusive. May be involved in mitotic chromosome segregation (By similarity). Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Evidence=; Homodimer; can bind RNA as a monomer and as a dimer/oligomer. Interacts with TDRD3. When phosphorylated, interacts with IRF3; the interaction facilitates the phosphorylation and activation of IRF3 by IKBKE. Directly interacts with XPO1/CRM1. The interaction with XPO1/CMR1 is dependent on the DDX3X nuclear export signal motif and XPO1 interaction with GTPase RAN in its active GTP-bound form. Weakly interacts with TBKBP1/SINTBAD. Directly interacts with TRAF3; this interaction stimulates TRAF3 'Lys-63' ubiquitination. Interacts with CSNK1E in a Wnt-dependent manner; this interaction greatly enhances CSNK1E affinity for ATP, stimulates its kinase activity and promotes CSNK1E-mediated DVL2 phosphorylation. In the presence of RNA, the interaction is decreased. Also interacts with CSNK1D and stimulates its kinase activity. Interacts with TRPV4; this interaction is decreased when the TRPV4 channel is activated, leading to DDX3X relocalization to the nucleus. Interacts with MAP3K14/NIK. Directly interacts with CHUK/IKKA after physiological activation of the TLR7 and TLR8 pathways; this interaction enhances CHUK autophosphorylation. May associate with EIF4F complex, composed of at least EIF4A, EIF4E and EIF4G1/EIF4G3. Directly interacts with EIF4E in an RNA-independent manner; this interaction enhances EIF4E cap-binding ability. Directly interacts with EIF4G1 in an RNA-independent manner. DDX3X competes with EIF4G1 for interaction with EIF4E. Interacts with EIF4A1 and EIF2S1 in an RNA- independent manner. Associates with the eukaryotic translation initiation factor 3 (eIF-3) complex, including with EIF3B and EIF3C subunits. Directly interacts with IKBKE/IKKE; this interaction stimulates IKBKE activating autophosphorylation and is induced upon viral infection. Interacts with TBK1. Interacts with SP1; this interaction potentiates SP1-induced CDKN1A/WAF1/CIP1 transcription. Interacts with GSK3A and GSK3B. Interacts with several death receptors, inclusing FAS, TNFRSF10A and TNFRSF10B. Recruited to TNFRSF10B in the absence of receptor stimulation. When TNFRSF10B is stimulated, further recruited to the receptor and cleaved by caspases. A large proteolytic fragment remains associated with TNFRSF10B. Interacts (via C-terminus) with NXF1/TAP; this interaction may be partly involved in DDX3X nuclear export and in NXF1 localization to stress granules. Identified in an mRNP complex, composed of at least DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1/2, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1. The interaction with IGF2BP1/2 is RNA-dependent. Directly interacts with PABPC1/PABP1 in an RNA-independent manner. This interaction increases in stressed cells and decreases during cell recovery. Interacts (via C-terminus) with MAVS/IPS-1; this interaction potentiates MAVS-mediated IFNB induction. Interacts with ERCC6/CBS. Interacts with DHX33 in an RNA-independent manner. Interacts with DDX5 in the cytoplasm; this interaction may be more efficient when both proteins are unphosphorylated. Interacts with RIGI. Interacts with IFIH1/MDA5. Interacts with NCAPH; this interaction may be important for the NCAPH localization at condensing chromosomes during mitosis (By similarity). Interacts with NLRP3 (via NACHT domain) under inflammasome-activating conditions (PubMed:31511697). Interacts with CAPRIN1. Interacts with HNF4A and NR0B2/SHP in an RNA-independent manner; this interaction disrupts the interaction between HNF4 and NR0B2 that forms inactive heterodimers and enhances the formation of active HNF4 homodimers. Interacts with CREBBP/CBP. Interacts with EP300/p300. Interacts with gamma-tubulin. Interacts with phosphorylated TP53. Directly interacts with RELA/p65; this interaction may trap RELA in the cytoplasm, impairing nuclear relocalization upon TNF activating signals (By similarity). Q62167; Q9UHD2: TBK1; Xeno; NbExp=8; IntAct=EBI-773173, EBI-356402; Cell membrane Nucleus Cytoplasm Cytoplasm, Stress granule Inflammasome Cell projection, lamellipodium Note=Shuttles between the nucleus and the cytosol. Exported from the nucleus partly through the XPO1/CRM1 system and partly through NXF1/TAP. Localizes to nuclear pores on the outer side of the nuclear membrane. In the cytosol, partly colocalizes with mitochondria. At G0, predominantly located in nucleus. In G1/S phase, predominantly cytoplasmic. During prophase/prometaphase, localizes in close proximity to the condensing chromosomes. During telophase, localizes around the newly synthesized nuclear membrane and in the cytoplasm. Colocalizes with TRPV4 at the plasma membrane. When TRPV4 channel is activated, intracellular Ca(2+) levels increase and the calmodulin/CAMKII pathway is activated, relocalizes to the nucleus. WNT3A stimulation promotes DDX3 recruitment to the plasma membrane. Expressed in ovary, including in germinal vesicle immature and metaphase II (MII) stage oocytes (at protein level) (PubMed:8948440, PubMed:25050112). In the brain, expressed in the granule cells of the cerebellum and dentate gyrus, the pyramidal cells of the hippocampus, the ependymal cells lining the ventricles, choroid plexi and olfactory bulb. Also accumulates in the thalamic nuclei, the dorsal region of the colliculi and the pontine nucleus (PubMed:8948440). In oocytes, expression levels increase from germinal vesicle immature oocytes to metaphase II (MII) and decline after fertilization in 1-cell and 2-cell embryos (at protein level) (PubMed:25050112). At 7.5 dpc, highly expressed in all embryonic cells and extraembryonic tissues, including ectoplacental cone, chorion, extraembryonic endoderm and parietal endoderm (at protein level) (PubMed:27179789). At 8.5-9.5 dpc, widely expressed (PubMed:8948440). At 8.5 dpc, levels decrease in extraembryonic tissues (PubMed:27179789). As development proceeds, expression becomes more restricted. At 11.5 dpc, most abundant in the neural tube, but still expressed at moderate levels in a number of other sites, including the mesenchyme of limbs and the face and in liver. At 14.5 dpc, highly expressed in the developing brain and caudal neural tube, but absent from the marginal layer of the neural tube. Also expressed in the developing metanephros and lung. At 15.5 dpc, expressed in the brain and spinal cord, as well as in teeth primordia, the lung and in the developing limb (PubMed:8948440). At 16.5 dpc, moderate, but non- uniform expression levels in the placenta (PubMed:27179789). The C-terminus (residues 536-662) is dispensable for DDX3X trafficking. Phosphorylated by TBK1; the phosphorylation is required for the synergistic induction of IFNB mediated by TBK1 and DDX3X. Phosphorylated by IKBKE. Also phosphorylated by CSNK1E; this phosphorylation may inhibit RNA-stimulated ATPase activity. Upon stimulation of death receptors, including TNFRSF10B, recruited to receptors and cleaved by caspases. Proteolytic fragments remain associated with the receptors. This cleavage presumably inactivates DDX3X anti-apoptotic function. In mutant males, loss of DDX3X leads to early post-implantation lethality. In mutant females with a maternally inherited Ddx3x null allele, paternal X chromosome inactivation affects trophoblast differentiation, which leads to aberrant placental layers and defective vascularization in placental labyrinth. These placental abnormalities impair maternal blood supply to the embryo and ultimately lead to fetal growth restriction and lethality. Heterozygous females with a paternally inherited null allele are born at the expected Mendelian ratio, develop normally and are indistinguishable from their littermate controls (PubMed:27179789). Epiblast-specific knockout embryos exhibit multiple anomalies, including defective neural tube closure, underdeveloped brain, poorly developed myocardial trabeculae, which ultimately lead to embryonic lethality around 11.5 dpc (PubMed:27179789). DDX3X and DDX3Y double knockout is embryonic lethal (PubMed:30613052). DDX3X and DDX3Y double knockout germ cells can differentiate into spermatozoa (PubMed:30613052). Bone-marrow macrophage-specific knockout leads to a reduction in the expression of several cytokines, including IL1B, IL6, IL12 and IFNB1, in response to Listeria monocytogenes infection and pathogen-associated molecular patterns (PAMPs), including poly (I:C), poly (dA:dT) and LPS. This effect is more prononced in females than in male macrophages, probably due to the functional redundancy with DDX3Y gene located on chromosome Y (PubMed:30475900). Encoded by an chromosome X-linked gene which escapes X chromosome inactivation (XCI) in females, but exhibits developmental- and tissue-specific differences in escape from XCI. DDX3Y, its homolog on chromosome Y, is located in the Y non-recombinant portion (By similarity). In 8 to 16 cell stage embryos, expression from paternal and maternal copies of DDX3X is detected. Paternally derived DDX3X is preferentially inactivated in extraembryonic tissues of embryos from 6.5 dpc (PubMed:27179789). Belongs to the DEAD box helicase family. DDX3/DED1 subfamily. The role of the nuclear export signal (NES) motif in XPO1- mediated DDX3X export is controversial (By similarity). In one study, NES has been found dispensable for DDX3X export while the helicase domain mediates the interaction with XPO1 (By similarity). However, in two other studies, DDX3X nuclear export is dependent on both NES and Ran in its GTP-bound form while the helicase domain is not required (By similarity). nucleotide binding immune system process nucleic acid binding DNA binding DNA helicase activity RNA binding RNA helicase activity GTPase activity helicase activity protein binding ATP binding nucleus cytoplasm mitochondrion mitochondrial outer membrane cytosol translational initiation regulation of translation apoptotic process chromosome segregation gamete generation transcription factor binding poly(A) binding eukaryotic initiation factor 4E binding extrinsic apoptotic signaling pathway via death domain receptors response to virus cytoplasmic stress granule RNA secondary structure unwinding positive regulation of gene expression membrane Wnt signaling pathway nuclear speck hydrolase activity ATPase activity nucleoside-triphosphatase activity negative regulation of translation cell differentiation positive regulation of cell growth negative regulation of cell growth negative regulation of protein complex assembly translation initiation factor binding DNA duplex unwinding RNA strand annealing activity stress granule assembly intracellular signal transduction RNA stem-loop binding ribosome biogenesis mature ribosome assembly ribosomal small subunit binding positive regulation of apoptotic process negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process P granule CTPase activity positive regulation of cysteine-type endopeptidase activity involved in apoptotic process protein serine/threonine kinase activator activity positive regulation of viral genome replication innate immune response positive regulation of translation positive regulation of transcription from RNA polymerase II promoter positive regulation of translational initiation mRNA 5'-UTR binding cellular response to arsenic-containing substance cellular response to osmotic stress positive regulation of protein serine/threonine kinase activity positive regulation of canonical Wnt signaling pathway intrinsic apoptotic signaling pathway positive regulation of G1/S transition of mitotic cell cycle protein localization to cytoplasmic stress granule negative regulation of intrinsic apoptotic signaling pathway eukaryotic translation initiation factor 3 complex cytosolic small ribosomal subunit uc009srl.1 uc009srl.2 uc009srl.3 uc009srl.4 
ENSMUST00000000809.3 Slc5a5 ENSMUST00000000809.3 solute carrier family 5 (sodium iodide symporter), member 5 (from RefSeq NM_053248.2) ENSMUST00000000809.1 ENSMUST00000000809.2 G3X8P5 G3X8P5_MOUSE NM_053248 Slc5a5 uc009mbz.1 uc009mbz.2 uc009mbz.3 Reaction=iodide(out) + 2 Na(+)(out) = iodide(in) + 2 Na(+)(in); Xref=Rhea:RHEA:71207, ChEBI:CHEBI:16382, ChEBI:CHEBI:29101; Evidence=; Cell membrane ; Multi-pass membrane protein Membrane ; Multi-pass membrane protein Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. nucleus thyroid hormone generation sodium:iodide symporter activity iodide transmembrane transporter activity iodide transport membrane integral component of membrane transmembrane transporter activity transmembrane transport cellular response to cAMP cellular response to gonadotropin stimulus uc009mbz.1 uc009mbz.2 uc009mbz.3 
ENSMUST00000000811.8 Kcnn3 ENSMUST00000000811.8 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (from RefSeq NM_080466.2) ENSMUST00000000811.1 ENSMUST00000000811.2 ENSMUST00000000811.3 ENSMUST00000000811.4 ENSMUST00000000811.5 ENSMUST00000000811.6 ENSMUST00000000811.7 KCNN3_MOUSE NM_080466 P58391 Q3UUY9 Sk3 uc012cso.1 uc012cso.2 uc012cso.3 Forms a voltage-independent potassium channel activated by intracellular calcium (PubMed:11557517). Activation is followed by membrane hyperpolarization (By similarity). Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization (By similarity). Inhibited by bee venom neurotoxin apamin. Heterooligomer. The complex is composed of 4 channel subunits each of which binds to a calmodulin subunit which regulates the channel activity through calcium-binding (By similarity). Interacts with CALM1 (By similarity). Membrane; Multi-pass membrane protein. Expressed at low levels in atrial and ventricular myocytes (at protein level). Belongs to the potassium channel KCNN family. KCa2.3/KCNN3 subfamily. calmodulin binding cytoplasm plasma membrane ion transport potassium ion transport calcium-activated potassium channel activity membrane integral component of membrane small conductance calcium-activated potassium channel activity filopodium neuromuscular junction neuron projection neuronal cell body cell body protein heterodimerization activity potassium ion transmembrane transport uc012cso.1 uc012cso.2 uc012cso.3 
ENSMUST00000000828.14 Txnrd3 ENSMUST00000000828.14 thioredoxin reductase 3, transcript variant 1 (from RefSeq NM_153162.3) ENSMUST00000000828.1 ENSMUST00000000828.10 ENSMUST00000000828.11 ENSMUST00000000828.12 ENSMUST00000000828.13 ENSMUST00000000828.2 ENSMUST00000000828.3 ENSMUST00000000828.4 ENSMUST00000000828.5 ENSMUST00000000828.6 ENSMUST00000000828.7 ENSMUST00000000828.8 ENSMUST00000000828.9 G3X8P6 G3X8P6_MOUSE NM_153162 Txnrd3 uc009cwj.1 uc009cwj.2 The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes the third TrxR, which unlike the other two isozymes, contains an additional N-terminal glutaredoxin (Grx) domain, and shows highest expression in testis. The Grx domain allows this isozyme to participate in both Trx and glutathione systems. It functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. There is evidence for additional isoforms resulting from the use of a non-AUG (CUG), and an in-frame downstream AUG as translation initiation codons (PMID:20018845). [provided by RefSeq, Aug 2017]. Reaction=[thioredoxin]-dithiol + NADP(+) = [thioredoxin]-disulfide + H(+) + NADPH; Xref=Rhea:RHEA:20345, Rhea:RHEA-COMP:10698, Rhea:RHEA- COMP:10700, ChEBI:CHEBI:15378, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.8.1.9; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:20347; Evidence=; Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Note=Binds 1 FAD per subunit. ; Homodimer. Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. nucleotide binding thioredoxin-disulfide reductase activity nucleoplasm cytosol electron carrier activity protein disulfide oxidoreductase activity oxidoreductase activity oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor electron transport chain cell redox homeostasis flavin adenine dinucleotide binding oxidation-reduction process cellular oxidant detoxification uc009cwj.1 uc009cwj.2 
ENSMUST00000000834.4 Fasl ENSMUST00000000834.4 Fas ligand, transcript variant 1 (from RefSeq NM_010177.4) ENSMUST00000000834.1 ENSMUST00000000834.2 ENSMUST00000000834.3 Fasl NM_010177 Q544E9 Q544E9_MOUSE Tnlg1a uc007dfr.1 uc007dfr.2 uc007dfr.3 uc007dfr.4 uc007dfr.5 Cytoplasmic form induces gene transcription inhibition. Cytoplasmic vesicle lumen Lysosome lumen Membrane ; Single-pass type II membrane protein Nucleus Secreted Belongs to the tumor necrosis factor family. negative regulation of transcription from RNA polymerase II promoter death receptor binding cytokine activity tumor necrosis factor receptor binding extracellular region extracellular space nucleus plasma membrane caveola apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process inflammatory cell apoptotic process immune response positive regulation of cell proliferation extrinsic apoptotic signaling pathway via death domain receptors membrane integral component of membrane negative regulation of angiogenesis cellular chloride ion homeostasis cytoplasmic vesicle response to lipopolysaccharide positive regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of neuron apoptotic process membrane raft positive regulation of epidermal growth factor receptor signaling pathway endosomal lumen acidification perinuclear region of cytoplasm extracellular exosome T cell apoptotic process necroptotic process response to growth factor apoptotic signaling pathway extrinsic apoptotic signaling pathway necroptotic signaling pathway calcium ion transport from endoplasmic reticulum to cytosol positive regulation of endothelial cell apoptotic process uc007dfr.1 uc007dfr.2 uc007dfr.3 uc007dfr.4 uc007dfr.5 
ENSMUST00000000889.7 Il4 ENSMUST00000000889.7 interleukin 4, transcript variant 1 (from RefSeq NM_021283.2) ENSMUST00000000889.1 ENSMUST00000000889.2 ENSMUST00000000889.3 ENSMUST00000000889.4 ENSMUST00000000889.5 ENSMUST00000000889.6 IL4_MOUSE Il-4 NM_021283 P07750 uc007iwq.1 uc007iwq.2 uc007iwq.3 uc007iwq.4 uc007iwq.5 Cytokine secreted primarily by mast cells, T-cells, eosinophils, and basophils that plays a role in regulating antibody production, hematopoiesis and inflammation, and the development of effector T-cell responses (PubMed:3083412). Induces the expression of class II MHC molecules on resting B-cells (PubMed:3498301). Enhances both secretion and cell surface expression of IgE and IgG1 (PubMed:3498301). Regulates also the expression of the low affinity Fc receptor for IgE (CD23) on both lymphocytes and monocytes (By similarity). Positively regulates IL31RA expression in macrophages. Stimulates autophagy in dendritic cells by interfering with mTORC1 signaling and through the induction of RUFY4 (PubMed:26416964). In addition, plays a critical role in higher functions of the normal brain, such as memory and learning (PubMed:25772794, PubMed:28202615). Upon binding to IL4, IL4R receptor dimerizes either with the common IL2R gamma chain/IL2RG to produce the type 1 signaling complex, located mainly on hematopoietic cells, or with the IL13RA1 to produce the type 2 complex, which is expressed also on nonhematopoietic cells. Engagement of both types of receptors initiates JAK3 and to a lower extend JAK1 phosphorylation leading to activation of the signal transducer and activator of transcription 6/STAT6 (PubMed:8624821, PubMed:25847241). Interacts with IL4R. Interacts with IL13RA1. Secreted. Deletion mutant mice demonstrate anxiety-like behavior in comparison to WT mice (PubMed:25772794). In addition, they show impaired cognitive function (PubMed:28202615). Belongs to the IL-4/IL-13 family. microglial cell activation positive regulation of protein phosphorylation innate immune response in mucosa positive regulation of defense response to virus by host T-helper 1 cell lineage commitment positive regulation of immunoglobulin production negative regulation of acute inflammatory response negative regulation of chronic inflammatory response cytokine activity cytokine receptor binding interleukin-4 receptor binding extracellular region extracellular space autophagy immune response growth factor activity cholesterol metabolic process positive regulation of cell proliferation external side of plasma membrane regulation of proton transport positive regulation of gene expression negative regulation of epithelial cell migration positive regulation of macroautophagy positive regulation of B cell proliferation B cell costimulation positive regulation of interleukin-10 production positive regulation of interleukin-13 production T-helper 2 cell cytokine production positive regulation of T cell proliferation positive regulation of activated T cell proliferation T cell activation B cell activation positive regulation of tyrosine phosphorylation of STAT protein negative regulation of tumor necrosis factor biosynthetic process defense response to protozoan activation of Janus kinase activity myeloid dendritic cell differentiation negative regulation of macrophage activation positive regulation of mast cell degranulation negative regulation of nitric oxide biosynthetic process T-helper 2 cell differentiation positive regulation of chemokine biosynthetic process positive regulation of MHC class II biosynthetic process positive regulation of T cell differentiation negative regulation of osteoclast differentiation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of receptor-mediated endocytosis positive regulation of isotype switching to IgE isotypes positive regulation of isotype switching to IgG isotypes regulation of inflammatory response positive regulation of peptidyl-tyrosine phosphorylation regulation of immune response negative regulation of T cell activation positive regulation of B cell activation positive regulation of sequence-specific DNA binding transcription factor activity negative regulation of white fat cell proliferation positive regulation of mononuclear cell migration dendritic cell differentiation extrinsic apoptotic signaling pathway in absence of ligand positive regulation of beta-amyloid clearance positive regulation of myoblast fusion positive regulation of cellular respiration positive regulation of reactive oxygen species biosynthetic process negative regulation of complement-dependent cytotoxicity negative regulation of T-helper 17 cell differentiation negative regulation of endothelial cell apoptotic process positive regulation of eosinophil chemotaxis positive regulation of ATP biosynthetic process negative regulation of extrinsic apoptotic signaling pathway uc007iwq.1 uc007iwq.2 uc007iwq.3 uc007iwq.4 uc007iwq.5 
ENSMUST00000000895.13 Necab3 ENSMUST00000000895.13 N-terminal EF-hand calcium binding protein 3, transcript variant 3 (from RefSeq NM_021546.3) A1L0S0 A1L0S1 A2AKE8 A2AKE9 Apba2bp ENSMUST00000000895.1 ENSMUST00000000895.10 ENSMUST00000000895.11 ENSMUST00000000895.12 ENSMUST00000000895.2 ENSMUST00000000895.3 ENSMUST00000000895.4 ENSMUST00000000895.5 ENSMUST00000000895.6 ENSMUST00000000895.7 ENSMUST00000000895.8 ENSMUST00000000895.9 NECA3_MOUSE NM_021546 Q3TYZ9 Q9D6J4 Q9ESR0 Xb51 uc008njh.1 uc008njh.2 uc008njh.3 Inhibits the interaction of APBA2 with amyloid-beta precursor protein (APP), and hence allows formation of amyloid-beta (By similarity). May enhance the activity of HIF1A and thus promote glycolysis under normoxic conditions; the function requires its ABM domain and may implicate the stabilization of the interaction between HIF1AN and APBA3 (By similarity). Interacts with the N-terminal domain of APBA2. Interacts with NEK2 (By similarity). Interacts with APBA3; APBA3 seems to mediate the interaction between NECAB3 and HIF1AN (By similarity). Golgi apparatus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9D6J4-1; Sequence=Displayed; Name=2; IsoId=Q9D6J4-2; Sequence=VSP_000740; Widely expressed, with highest levels in the brain. Phosphorylated by NEK2. Sequence=AAI26875.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=AAI26876.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAB16414.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Golgi cis cisterna calcium ion binding protein binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus protein metabolic process regulation of amyloid precursor protein biosynthetic process metal ion binding uc008njh.1 uc008njh.2 uc008njh.3 
ENSMUST00000000896.11 Pxmp4 ENSMUST00000000896.11 peroxisomal membrane protein 4, transcript variant 1 (from RefSeq NM_021534.4) ENSMUST00000000896.1 ENSMUST00000000896.10 ENSMUST00000000896.2 ENSMUST00000000896.3 ENSMUST00000000896.4 ENSMUST00000000896.5 ENSMUST00000000896.6 ENSMUST00000000896.7 ENSMUST00000000896.8 ENSMUST00000000896.9 NM_021534 PXMP4_MOUSE Pmp24 Q3U0L9 Q9CQV9 Q9JJW0 uc008njm.1 uc008njm.2 uc008njm.3 Interacts with PEX19. Peroxisome membrane ; Multi-pass membrane protein Belongs to the peroxisomal membrane protein PXMP2/4 family. molecular_function peroxisome peroxisomal membrane biological_process membrane integral component of membrane uc008njm.1 uc008njm.2 uc008njm.3 
ENSMUST00000000910.7 Dbh ENSMUST00000000910.7 dopamine beta hydroxylase (from RefSeq NM_138942.3) DOPO_MOUSE ENSMUST00000000910.1 ENSMUST00000000910.2 ENSMUST00000000910.3 ENSMUST00000000910.4 ENSMUST00000000910.5 ENSMUST00000000910.6 NM_138942 Q3V1U4 Q64237 uc008ixe.1 uc008ixe.2 uc008ixe.3 Catalyzes the hydroxylation of dopamine to noradrenaline (also known as norepinephrine), and is thus vital for regulation of these neurotransmitters. Reaction=dopamine + 2 L-ascorbate + O2 = (R)-noradrenaline + H2O + 2 monodehydro-L-ascorbate radical; Xref=Rhea:RHEA:19117, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:38290, ChEBI:CHEBI:59513, ChEBI:CHEBI:59905, ChEBI:CHEBI:72587; EC=1.14.17.1; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19118; Evidence=; Name=Cu(2+); Xref=ChEBI:CHEBI:29036; Evidence=; Note=Binds 2 copper ions per subunit. ; Catecholamine biosynthesis; (R)-noradrenaline biosynthesis; (R)-noradrenaline from dopamine: step 1/1. Homotetramer; composed of two disulfide-linked dimers. [Soluble dopamine beta-hydroxylase]: Cytoplasmic vesicle, secretory vesicle lumen Cytoplasmic vesicle, secretory vesicle, chromaffin granule lumen Cytoplasmic vesicle, secretory vesicle membrane ; Single-pass type II membrane protein Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane ; Single-pass type II membrane protein Detected in adrenal gland secretory granules (at protein level) (PubMed:7961964). Detected in adrenal gland (PubMed:1280432). Proteolytic cleavage after the membrane-anchor leads to the release of the soluble form. N-glycosylated. Complete embryonic lethality in homozygous dams, and 88% embryonic lethality for homozygous embryos in heterozygous dams. Only 12% of the homozygous pups from heterozygous dams are alive at birth. Mutant pups have no obvious phenotype at birth, but nearly half of them die within 48 h, and only 5% survive to adulthood. Three weeks after birth, mutant pups are runted and weigh only half as much as their littermates. Still, the weight of adult males reaches 80% and that of females 88% of that of their littermates. Besides, mutant mice display ptosis. Embryonic lethality is due to a lack of noradrenaline and can be prevented by treatment with dihydroxyphenylserine, a compound that can be converted into noradrenaline in the absence of Dbh. Belongs to the copper type II ascorbate-dependent monooxygenase family. cytokine production blood vessel remodeling response to amphetamine leukocyte mediated immunity catalytic activity monooxygenase activity dopamine beta-monooxygenase activity copper ion binding extracellular space cytoplasm endoplasmic reticulum microtubule organizing center octopamine biosynthetic process memory locomotory behavior associative learning visual learning membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen axon dendrite transport vesicle membrane secretory granule membrane cytoplasmic vesicle L-ascorbic acid binding chromaffin granule lumen secretory granule lumen regulation of cell proliferation homoiothermy dopamine catabolic process norepinephrine biosynthetic process catecholamine biosynthetic process chromaffin granule membrane glucose homeostasis fear response maternal behavior neuronal cell body terminal bouton varicosity intracellular membrane-bounded organelle apical part of cell synapse positive regulation of vasoconstriction octopamine metabolic process metal ion binding behavioral response to ethanol response to pain leukocyte migration oxidation-reduction process regulation of extrinsic apoptotic signaling pathway uc008ixe.1 uc008ixe.2 uc008ixe.3 
ENSMUST00000000924.13 Mmp11 ENSMUST00000000924.13 matrix metallopeptidase 11, transcript variant 1 (from RefSeq NM_008606.3) ENSMUST00000000924.1 ENSMUST00000000924.10 ENSMUST00000000924.11 ENSMUST00000000924.12 ENSMUST00000000924.2 ENSMUST00000000924.3 ENSMUST00000000924.4 ENSMUST00000000924.5 ENSMUST00000000924.6 ENSMUST00000000924.7 ENSMUST00000000924.8 ENSMUST00000000924.9 Mmp11 NM_008606 Q3UQT3 Q3UQT3_MOUSE uc007fto.1 uc007fto.2 uc007fto.3 This gene encodes a member of the matrix metalloproteinase family of endopeptidases that are involved in remodeling extracellular matrix during, for example, embryonic development and tumor progression. The encoded protein undergoes post-translational proteolytic processing by furin endopeptidase to form an active enzyme. Subcutaneous introduction of cells expressing the encoded protein into nude mice results in increased tumor incidence. Mice lacking the encoded protein exhibit a decreased incidence of chemically-induced tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Note=Can bind about 5 Ca(2+) ions per subunit. ; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) ions per subunit. Belongs to the peptidase M10A family. metalloendopeptidase activity proteolysis multicellular organism development peptidase activity metallopeptidase activity zinc ion binding hydrolase activity extracellular matrix metal ion binding uc007fto.1 uc007fto.2 uc007fto.3 
ENSMUST00000000925.10 Smarcb1 ENSMUST00000000925.10 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, transcript variant 1 (from RefSeq NM_011418.2) Baf47 ENSMUST00000000925.1 ENSMUST00000000925.2 ENSMUST00000000925.3 ENSMUST00000000925.4 ENSMUST00000000925.5 ENSMUST00000000925.6 ENSMUST00000000925.7 ENSMUST00000000925.8 ENSMUST00000000925.9 Ini1 NM_011418 Q9Z0H3 SNF5_MOUSE Snf5l1 uc007ftm.1 uc007ftm.2 uc007ftm.3 uc007ftm.4 Core component of the BAF (SWI/SNF) complex. This ATP- dependent chromatin-remodeling complex plays important roles in cell proliferation and differentiation, in cellular antiviral activities and inhibition of tumor formation. The BAF complex is able to create a stable, altered form of chromatin that constrains fewer negative supercoils than normal. This change in supercoiling would be due to the conversion of up to one-half of the nucleosomes on polynucleosomal arrays into asymmetric structures, termed altosomes, each composed of 2 histones octamers. Stimulates in vitro the remodeling activity of SMARCA4/BRG1/BAF190A. Plays a key role in cell-cycle control and causes cell cycle arrest in G0/G1. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth. Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B) and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific (Probable). Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57 SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C (By similarity). In muscle cells, the BAF complex also contains DPF3. Component of neural progenitors-specific chromatin remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (PubMed:17640523). Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (PubMed:26601204). Binds to double-stranded DNA. Interacts with CEBPB (when not methylated) (PubMed:20111005). Interacts with PIH1D1. Interacts with MYK and MAEL (PubMed:16787967). Interacts with PPP1R15A (By similarity). Interacts with DPF2 (By similarity). Interacts with YWHAZ (By similarity). Interacts with ERCC6 (By similarity). Interacts with FOS, FOSB isoform 1 and 2, FOSL1 and FOSL2 (PubMed:29272704). Q9Z0H3; P97496: Smarcc1; NbExp=5; IntAct=EBI-689365, EBI-648047; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=A; Synonyms=INI1A; IsoId=Q9Z0H3-1; Sequence=Displayed; Name=B; Synonyms=INI1B; IsoId=Q9Z0H3-2; Sequence=VSP_004400; Expressed ubiquitously throughout the developing spinal cord, brain and other embryonic tissues at 10.5 dpc-16.5 dpc. The N-terminal DNA-binding region is structurally similar to winged helix domains. Belongs to the SNF5 family. nuclear chromosome RNA polymerase I CORE element sequence-specific DNA binding RNA polymerase I transcriptional preinitiation complex assembly fibrillar center XY body blastocyst development blastocyst hatching p53 binding DNA binding transcription coactivator activity protein binding nucleus nucleoplasm nucleolus chromatin organization nucleosome disassembly chromatin remodeling regulation of transcription from RNA polymerase II promoter cell cycle nervous system development negative regulation of cell proliferation SWI/SNF complex cell differentiation Tat protein binding brahma complex single stranded viral RNA replication via double stranded DNA intermediate intracellular membrane-bounded organelle positive regulation by host of viral transcription positive regulation of transcription from RNA polymerase II promoter positive regulation of sequence-specific DNA binding transcription factor activity npBAF complex nBAF complex positive regulation of histone H4 acetylation negative regulation of histone H3-K9 dimethylation negative regulation of histone H3-K9 trimethylation positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter positive regulation of glucose mediated signaling pathway positive regulation of histone H3-K9 acetylation uc007ftm.1 uc007ftm.2 uc007ftm.3 uc007ftm.4 
ENSMUST00000000926.3 Vpreb3 ENSMUST00000000926.3 V-set pre-B cell surrogate light chain 3, transcript variant 1 (from RefSeq NM_009514.5) ENSMUST00000000926.1 ENSMUST00000000926.2 NM_009514 Q61243 Q61243_MOUSE Vpreb3 uc007ftt.1 uc007ftt.2 uc007ftt.3 immunoglobulin production molecular_function extracellular space endoplasmic reticulum immune response negative regulation of immunoglobulin secretion uc007ftt.1 uc007ftt.2 uc007ftt.3 
ENSMUST00000000939.15 Hip1r ENSMUST00000000939.15 huntingtin interacting protein 1 related, transcript variant 3 (from RefSeq NR_185273.1) ENSMUST00000000939.1 ENSMUST00000000939.10 ENSMUST00000000939.11 ENSMUST00000000939.12 ENSMUST00000000939.13 ENSMUST00000000939.14 ENSMUST00000000939.2 ENSMUST00000000939.3 ENSMUST00000000939.4 ENSMUST00000000939.5 ENSMUST00000000939.6 ENSMUST00000000939.7 ENSMUST00000000939.8 ENSMUST00000000939.9 HIP1R_MOUSE NR_185273 Q3UJ14 Q9JKY5 uc008zos.1 uc008zos.2 uc008zos.3 uc008zos.4 Component of clathrin-coated pits and vesicles, that may link the endocytic machinery to the actin cytoskeleton. Binds 3- phosphoinositides (via ENTH domain). May act through the ENTH domain to promote cell survival by stabilizing receptor tyrosine kinases following ligand-induced endocytosis. Homodimer (PubMed:18790740). Interacts with actin; homodimerization promotes actin binding (PubMed:18790740). Interacts with CLTB (By similarity). Interacts with HIP1 (By similarity). Interacts (via ENTH and I/LWEQ domains) with BCL2L10 (By similarity). Q9JKY5; Q60598: Cttn; NbExp=4; IntAct=EBI-642457, EBI-397955; Q9JKY5; G3V6K6: Egfr; Xeno; NbExp=2; IntAct=EBI-642457, EBI-27088566; Q9JKY5; Q96B97: SH3KBP1; Xeno; NbExp=3; IntAct=EBI-642457, EBI-346595; Cytoplasm, perinuclear region. Endomembrane system. Cytoplasmic vesicle, clathrin-coated vesicle membrane. Note=Membrane-associated protein, mainly localized at the endocytic compartments and in the perinuclear region. Widely expressed. Expressed at lower levels in skeletal muscle and heart. The level of expression does not change appreciably during development. Binds F-actin via the talin-like I/LWEQ domain. Hip1 and Hip1r double knockout mice are dwarfed, afflicted with severe vertebral defects and die in early adulthood. Belongs to the SLA2 family. actin binding protein binding phospholipid binding phosphatidylinositol-4,5-bisphosphate binding phosphatidylinositol-3,4,5-trisphosphate binding cytoplasm mitochondrion cytosol cytoskeleton clathrin-coated pit cell cortex endocytosis receptor-mediated endocytosis apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process actin filament organization endomembrane system postsynaptic density membrane apical plasma membrane SH3 domain binding regulation of endocytosis clathrin-coated vesicle clathrin binding actin cortical patch clathrin-coated vesicle membrane negative regulation of actin filament polymerization cytoplasmic vesicle clathrin light chain binding positive regulation of protein binding ruffle membrane dendrite cytoplasm regulation of actin cytoskeleton organization negative regulation of Arp2/3 complex-mediated actin nucleation phosphatidylinositol binding clathrin adaptor activity identical protein binding protein homodimerization activity neuronal cell body positive regulation of apoptotic process negative regulation of apoptotic process dendritic spine intracellular membrane-bounded organelle phosphatidylinositol-3,4-bisphosphate binding positive regulation of epidermal growth factor receptor signaling pathway protein heterodimerization activity positive regulation of receptor-mediated endocytosis clathrin coat assembly perinuclear region of cytoplasm protein stabilization actin filament binding digestive system development regulation of gastric acid secretion membrane organization phosphatidylinositol-3,5-bisphosphate binding synaptic membrane positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway positive regulation of clathrin coat assembly regulation of clathrin-dependent endocytosis positive regulation of clathrin-dependent endocytosis positive regulation of platelet-derived growth factor receptor-beta signaling pathway uc008zos.1 uc008zos.2 uc008zos.3 uc008zos.4 
ENSMUST00000000940.15 Nsun5 ENSMUST00000000940.15 NOL1/NOP2/Sun domain family, member 5, transcript variant 3 (from RefSeq NR_153312.1) ENSMUST00000000940.1 ENSMUST00000000940.10 ENSMUST00000000940.11 ENSMUST00000000940.12 ENSMUST00000000940.13 ENSMUST00000000940.14 ENSMUST00000000940.2 ENSMUST00000000940.3 ENSMUST00000000940.4 ENSMUST00000000940.5 ENSMUST00000000940.6 ENSMUST00000000940.7 ENSMUST00000000940.8 ENSMUST00000000940.9 NR_153312 NSUN5_MOUSE Nsun5 Q3U0Q8 Q80WG3 Q8C568 Q8K4F6 Wbscr20a uc008zyh.1 uc008zyh.2 uc008zyh.3 S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates the C(5) position of cytosine 3438 (m5C3438) in 28S rRNA (PubMed:31722427). m5C3782 promotes protein translation without affecting ribosome biogenesis and fidelity (By similarity). Required for corpus callosum and cerebral cortex development (PubMed:31174389, PubMed:31462248). Reaction=a cytidine in 28S rRNA + S-adenosyl-L-methionine = a 5- methylcytidine in 28S rRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:47788, Rhea:RHEA-COMP:11915, Rhea:RHEA-COMP:11916, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74483, ChEBI:CHEBI:82748; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47789; Evidence=; Nucleus, nucleolus In the hippocampus, specifically expressed in adult hippocampal NG2-positive oligodendrocyte precursor cells (at protein level). Present in the developing cerebral cortex from embryonic day 12.5 dpc, with a peak at 14.5 dpc followed by a decrease from 18.5 dpc (at protein level) (PubMed:31462248). Selectively expressed in radial glial cells of cerebral cortex from 12.5 to 16.5 dpc, but not in intermediate progenitor cells (IPCs) or neocortical neurons (at protein level) (PubMed:31462248). Highly expressed in callosal oligodendrocyte precursor cells (OPCs) and oligodendrocytes (OLs) from postnatal day 7 to postnatal day 28 (PubMed:31174389). Decreased body weight and lean mass without alterations in food intake (PubMed:31722427). Adult mice show spatial cognitive deficits, possibly caused by defects in development and function of oligodendrocyte precursor cells (PubMed:30485550). Mice display a reduction of the corpus callosum with a decline in the number of myelinated axons and loose myelin sheath (PubMed:31174389). They also show impaired development of the cerebral cortex, characterized by impaired growth of radial glial scaffold (PubMed:31462248). Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. Sequence=AAH51209.1; Type=Erroneous initiation; Evidence=; RNA binding nucleus nucleolus rRNA processing methyltransferase activity transferase activity methylation rRNA base methylation uc008zyh.1 uc008zyh.2 uc008zyh.3 
ENSMUST00000000958.9 Top1mt ENSMUST00000000958.9 DNA topoisomerase 1, mitochondrial, transcript variant 1 (from RefSeq NM_028404.3) ENSMUST00000000958.1 ENSMUST00000000958.2 ENSMUST00000000958.3 ENSMUST00000000958.4 ENSMUST00000000958.5 ENSMUST00000000958.6 ENSMUST00000000958.7 ENSMUST00000000958.8 NM_028404 Q8R4U6 TOP1M_MOUSE uc007whb.1 uc007whb.2 uc007whb.3 Releases the supercoiling and torsional tension of DNA introduced during duplication of mitochondrial DNA by transiently cleaving and rejoining one strand of the DNA duplex. Introduces a single-strand break via transesterification at a target site in duplex DNA. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(3'-phosphotyrosyl)- enzyme intermediate and the expulsion of a 5'-OH DNA strand. The free DNA strand then rotates around the intact phosphodiester bond on the opposing strand, thus removing DNA supercoils. Finally, in the religation step, the DNA 5'-OH attacks the covalent intermediate to expel the active-site tyrosine and restore the DNA phosphodiester backbone (By similarity). Reaction=ATP-independent breakage of single-stranded DNA, followed by passage and rejoining.; EC=5.6.2.1; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Note=Divalent metal ions (calcium or magnesium). ; Mitochondrion Belongs to the type IB topoisomerase family. DNA binding DNA topoisomerase activity DNA topoisomerase type I activity nucleus chromosome mitochondrion DNA replication DNA topological change isomerase activity mitochondrial nucleoid uc007whb.1 uc007whb.2 uc007whb.3 
ENSMUST00000000964.6 Hoxa1 ENSMUST00000000964.6 homeobox A1, transcript variant 1 (from RefSeq NM_010449.5) B9EHK7 B9EHK7_MOUSE ENSMUST00000000964.1 ENSMUST00000000964.2 ENSMUST00000000964.3 ENSMUST00000000964.4 ENSMUST00000000964.5 Hoxa1 NM_010449 uc009bxy.1 uc009bxy.2 uc009bxy.3 Nucleus Belongs to the Antp homeobox family. Labial subfamily. DNA binding nucleus regulation of transcription, DNA-templated sequence-specific DNA binding uc009bxy.1 uc009bxy.2 uc009bxy.3 
ENSMUST00000000985.7 Oxa1l ENSMUST00000000985.7 oxidase assembly 1-like (from RefSeq NM_026936.4) ENSMUST00000000985.1 ENSMUST00000000985.2 ENSMUST00000000985.3 ENSMUST00000000985.4 ENSMUST00000000985.5 ENSMUST00000000985.6 NM_026936 OXA1L_MOUSE Q8BGA9 Q8BK01 Q8R091 Q9D8X7 uc007tvu.1 uc007tvu.2 uc007tvu.3 Required for the insertion of integral membrane proteins into the mitochondrial inner membrane. Essential for the activity and assembly of cytochrome oxidase. Required for the correct biogenesis of ATP synthase and complex I in mitochondria (By similarity). Monomer; predominantly monomeric at low salt concentrations. Homooligomer; predominantly homooligomeric at high salt concentrations. Homodimer. Homotetramer. Interacts with MRPL13, MRPL20, MRPL28, MRPL48, MRPL49 and MRPL51. Associates preferentially as a dimer with the large ribosomal subunit 39S of the mitochondrial ribosome (By similarity). Mitochondrion inner membrane ; Multi-pass membrane protein Belongs to the OXA1/ALB3/YidC family. mitochondrion mitochondrial inner membrane aerobic respiration membrane integral component of membrane integral component of mitochondrial inner membrane mitochondrial membrane integral component of mitochondrial membrane negative regulation of ATPase activity membrane insertase activity protein insertion into mitochondrial membrane from inner side mitochondrial respiratory chain complex I assembly macromolecular complex mitochondrial proton-transporting ATP synthase complex assembly mitochondrial respiratory chain complex IV assembly protein homodimerization activity protein insertion into membrane protein tetramerization negative regulation of oxidoreductase activity mitochondrial ribosome binding uc007tvu.1 uc007tvu.2 uc007tvu.3 
ENSMUST00000001002.8 Heatr6 ENSMUST00000001002.8 HEAT repeat containing 6 (from RefSeq NM_145432.3) ENSMUST00000001002.1 ENSMUST00000001002.2 ENSMUST00000001002.3 ENSMUST00000001002.4 ENSMUST00000001002.5 ENSMUST00000001002.6 ENSMUST00000001002.7 HEAT6_MOUSE NM_145432 Q3UUN8 Q6P1G0 Q99KZ5 Q9CSQ4 uc007kpu.1 uc007kpu.2 uc007kpu.3 Sequence=AAH03942.1; Type=Erroneous initiation; Evidence=; cellular_component biological_process uc007kpu.1 uc007kpu.2 uc007kpu.3 
ENSMUST00000001008.6 Ccl3 ENSMUST00000001008.6 C-C motif chemokine ligand 3 (from RefSeq NM_011337.2) Ccl3 ENSMUST00000001008.1 ENSMUST00000001008.2 ENSMUST00000001008.3 ENSMUST00000001008.4 ENSMUST00000001008.5 NM_011337 Q5QNW0 Q5QNW0_MOUSE uc007kpn.1 uc007kpn.2 uc007kpn.3 Secreted Belongs to the intercrine beta (chemokine CC) family. cytokine activity extracellular region extracellular space cell chemotaxis inflammatory response immune response signal transduction positive regulation of cytosolic calcium ion concentration chemokine activity neutrophil chemotaxis leukocyte chemotaxis response to drug positive regulation of osteoclast differentiation uc007kpn.1 uc007kpn.2 uc007kpn.3 
ENSMUST00000001009.14 Wfdc18 ENSMUST00000001009.14 WAP four-disulfide core domain 18 (from RefSeq NM_007969.4) ENSMUST00000001009.1 ENSMUST00000001009.10 ENSMUST00000001009.11 ENSMUST00000001009.12 ENSMUST00000001009.13 ENSMUST00000001009.2 ENSMUST00000001009.3 ENSMUST00000001009.4 ENSMUST00000001009.5 ENSMUST00000001009.6 ENSMUST00000001009.7 ENSMUST00000001009.8 ENSMUST00000001009.9 Expi NM_007969 P62810 Q62477 Q91VQ6 WFD18_MOUSE Wdnm1 uc007kpr.1 uc007kpr.2 uc007kpr.3 Could have proteinase inhibiting capacity. Secreted extracellular region negative regulation of peptidase activity peptidase inhibitor activity uc007kpr.1 uc007kpr.2 uc007kpr.3 
ENSMUST00000001027.7 Aox1 ENSMUST00000001027.7 aldehyde oxidase 1 (from RefSeq NM_009676.2) Aox1 ENSMUST00000001027.1 ENSMUST00000001027.2 ENSMUST00000001027.3 ENSMUST00000001027.4 ENSMUST00000001027.5 ENSMUST00000001027.6 G3X8P9 G3X8P9_MOUSE NM_009676 uc007bbl.1 uc007bbl.2 uc007bbl.3 Reaction=H2O + O2 + retinal = H(+) + H2O2 + retinoate; Xref=Rhea:RHEA:56736, ChEBI:CHEBI:15035, ChEBI:CHEBI:15036, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240; Evidence=; Reaction=an aldehyde + H2O + O2 = a carboxylate + H(+) + H2O2; Xref=Rhea:RHEA:16829, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:17478, ChEBI:CHEBI:29067; EC=1.2.3.1; Evidence=; Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence= Name=Mo-molybdopterin; Xref=ChEBI:CHEBI:71302; Evidence=; Note=Binds 1 Mo-molybdopterin (Mo-MPT) cofactor per subunit. ; Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:190135; Evidence=; Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:190135; Evidence=; Note=Binds 2 [2Fe-2S] clusters. ; Homodimer. Cytoplasm Belongs to the xanthine dehydrogenase family. aldehyde oxidase activity iron ion binding cytosol electron carrier activity oxidoreductase activity drug metabolic process electron transport chain identical protein binding protein homodimerization activity molybdopterin cofactor binding metal ion binding flavin adenine dinucleotide binding NAD binding iron-sulfur cluster binding 2 iron, 2 sulfur cluster binding oxidation-reduction process FAD binding uc007bbl.1 uc007bbl.2 uc007bbl.3 
ENSMUST00000001040.7 Icam4 ENSMUST00000001040.7 intercellular adhesion molecule 4, Landsteiner-Wiener blood group, transcript variant 1 (from RefSeq NM_023892.3) ENSMUST00000001040.1 ENSMUST00000001040.2 ENSMUST00000001040.3 ENSMUST00000001040.4 ENSMUST00000001040.5 ENSMUST00000001040.6 ICAM4_MOUSE NM_023892 Q8K4L7 Q9CU00 Q9ERM2 uc009ojz.1 uc009ojz.2 uc009ojz.3 Adhesion molecule that binds to leukocyte adhesion LFA-1 protein LFA-1 (integrin alpha-L/beta-2). ICAM4 is also a ligand for alpha-4/beta-1 and alpha-V integrins (By similarity). Isoform 2 may modulate binding of membrane-associated ICAM4. [Isoform 1]: Cell membrane ; Single-pass type I membrane protein [Isoform 2]: Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9ERM2-1; Sequence=Displayed; Name=2; Synonyms=ICAM-4S; IsoId=Q9ERM2-2; Sequence=VSP_013464; Belongs to the immunoglobulin superfamily. ICAM family. integrin binding extracellular region extracellular space cytoplasm plasma membrane integral component of plasma membrane cell adhesion membrane integral component of membrane cell-cell adhesion uc009ojz.1 uc009ojz.2 uc009ojz.3 
ENSMUST00000001042.10 Ilf2 ENSMUST00000001042.10 interleukin enhancer binding factor 2 (from RefSeq NM_026374.3) ENSMUST00000001042.1 ENSMUST00000001042.2 ENSMUST00000001042.3 ENSMUST00000001042.4 ENSMUST00000001042.5 ENSMUST00000001042.6 ENSMUST00000001042.7 ENSMUST00000001042.8 ENSMUST00000001042.9 ILF2_MOUSE NM_026374 Nf45 Q3U083 Q5RKG0 Q8CCY9 Q99KS3 Q9CXY6 uc008qcj.1 uc008qcj.2 uc008qcj.3 Chromatin-interacting protein that forms a stable heterodimer with interleukin enhancer-binding factor 3/ILF3 and plays a role in several biological processes including transcription, innate immunity or cell growth (PubMed:10574923). Essential for the efficient reshuttling of ILF3 (isoform 1 and isoform 2) into the nucleus. Together with ILF3, forms an RNA-binding complex that is required for mitotic progression and cytokinesis by regulating the expression of a cluster of mitotic genes. Mechanistically, competes with STAU1/STAU2- mediated mRNA decay. Also plays a role in the inhibition of various viruses including Japanese encephalitis virus or enterovirus 71 (By similarity) (PubMed:10574923). Forms heterodimers with ILF3. ILF2-ILF3 heterodimers may also bind to PRKDC/XRCC7: this may stabilize the interaction of PRKDC/XRCC7 and the heterodimeric complex of G22P1/KU70 and XRCC5/KU80. Forms a complex with ILF3, YLPM1, KHDRBS1, RBMX, NCOA5 and PPP1CA. Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs. Interacts with IGF2BP1. Interacts with CRBN; this interaction promotes ubiquitination and subsequent degradation of ILF2. Nucleus, nucleolus Cytoplasm Nucleus Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Expressed in brain, kidney and ovary; highly expressed in testis, particularly within pachytene cells. Expression in testis begins with developmental differentiation of pachytene spermatocytes. Ubiquitinated at Lys-45 by CRBN with polyubiquitin chains by the CUL4-RING E3 ligase (CRL4-CRBN) and then degraded by the proteasome. Sequence=BAC27594.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence=; DNA binding RNA binding double-stranded RNA binding ATP binding nucleus nucleolus cytoplasm transcription, DNA-templated immune response transferase activity positive regulation of transcription, DNA-templated ribonucleoprotein complex uc008qcj.1 uc008qcj.2 uc008qcj.3 
ENSMUST00000001046.7 S100a4 ENSMUST00000001046.7 S100 calcium binding protein A4, transcript variant 1 (from RefSeq NM_011311.3) ENSMUST00000001046.1 ENSMUST00000001046.2 ENSMUST00000001046.3 ENSMUST00000001046.4 ENSMUST00000001046.5 ENSMUST00000001046.6 NM_011311 Q545V2 Q545V2_MOUSE S100a4 uc008qcz.1 uc008qcz.2 uc008qcz.3 uc008qcz.4 Cytoplasm Nucleus Secreted Belongs to the S-100 family. actin binding calcium ion binding nucleus identical protein binding neuron projection positive regulation of I-kappaB kinase/NF-kappaB signaling metal ion binding transition metal ion binding calcium-dependent protein binding perinuclear region of cytoplasm RAGE receptor binding uc008qcz.1 uc008qcz.2 uc008qcz.3 uc008qcz.4 
ENSMUST00000001051.9 S100a6 ENSMUST00000001051.9 S100 calcium binding protein A6 (calcyclin), transcript variant 1 (from RefSeq NM_011313.3) ENSMUST00000001051.1 ENSMUST00000001051.2 ENSMUST00000001051.3 ENSMUST00000001051.4 ENSMUST00000001051.5 ENSMUST00000001051.6 ENSMUST00000001051.7 ENSMUST00000001051.8 NM_011313 Q545I9 Q545I9_MOUSE S100a6 uc008qdb.1 uc008qdb.2 uc008qdb.3 May function as calcium sensor and modulator, contributing to cellular calcium signaling. May function by interacting with other proteins, such as TPR-containing proteins, and indirectly play a role in many physiological processes such as the reorganization of the actin cytoskeleton and in cell motility. Binds 2 calcium ions. Calcium binding is cooperative. Nucleus envelope Belongs to the S-100 family. ruffle calcium ion binding tropomyosin binding nucleus nuclear envelope cytoplasm cytosol plasma membrane ion transmembrane transporter activity extrinsic component of cytoplasmic side of plasma membrane ion transmembrane transport protein homodimerization activity S100 protein binding metal ion binding calcium-dependent protein binding perinuclear region of cytoplasm uc008qdb.1 uc008qdb.2 uc008qdb.3 
ENSMUST00000001055.15 Icam2 ENSMUST00000001055.15 intercellular adhesion molecule 2 (from RefSeq NM_010494.2) ENSMUST00000001055.1 ENSMUST00000001055.10 ENSMUST00000001055.11 ENSMUST00000001055.12 ENSMUST00000001055.13 ENSMUST00000001055.14 ENSMUST00000001055.2 ENSMUST00000001055.3 ENSMUST00000001055.4 ENSMUST00000001055.5 ENSMUST00000001055.6 ENSMUST00000001055.7 ENSMUST00000001055.8 ENSMUST00000001055.9 ICAM2_MOUSE Icam-2 NM_010494 P35330 Q9D8Q4 uc007lyx.1 uc007lyx.2 uc007lyx.3 ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM2 may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen-specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance. Interacts with RDX, EZR and MSN. P35330; P26043: Rdx; NbExp=2; IntAct=EBI-1035485, EBI-647737; Membrane ; Single-pass type I membrane protein Cell projection, microvillus Note=Co-localizes with RDX, EZR and MSN in microvilli. Expressed in endothelial cells and leukocytes. High levels found in lung. Belongs to the immunoglobulin superfamily. ICAM family. Name=Functional Glycomics Gateway - Glycan Binding; Note=ICAM-2; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_mou_Itlect_189"; uropod integrin binding protein binding plasma membrane integral component of plasma membrane microvillus cell adhesion membrane integral component of membrane cleavage furrow cell projection cell periphery cell-cell adhesion uc007lyx.1 uc007lyx.2 uc007lyx.3 
ENSMUST00000001059.9 Ern1 ENSMUST00000001059.9 endoplasmic reticulum to nucleus signalling 1 (from RefSeq NM_023913.2) ENSMUST00000001059.1 ENSMUST00000001059.2 ENSMUST00000001059.3 ENSMUST00000001059.4 ENSMUST00000001059.5 ENSMUST00000001059.6 ENSMUST00000001059.7 ENSMUST00000001059.8 ERN1_MOUSE Ern1 Ire1 NM_023913 Q9D340 Q9EQY0 uc007lyy.1 uc007lyy.2 uc007lyy.3 Serine/threonine-protein kinase and endoribonuclease that acts as a key sensor for the endoplasmic reticulum unfolded protein response (UPR) (PubMed:11850408, PubMed:25164867). In unstressed cells, the endoplasmic reticulum luminal domain is maintained in its inactive monomeric state by binding to the endoplasmic reticulum chaperone HSPA5/BiP. Accumulation of misfolded protein in the endoplasmic reticulum causes release of HSPA5/BiP, allowing the luminal domain to homodimerize, promoting autophosphorylation of the kinase domain and subsequent activation of the endoribonuclease activity (PubMed:25164867). The endoribonuclease activity is specific for XBP1 mRNA and excises 26 nucleotides from XBP1 mRNA (PubMed:11850408, PubMed:25164867). The resulting spliced transcript of XBP1 encodes a transcriptional activator protein that up-regulates expression of UPR target genes (PubMed:11850408, PubMed:25164867). Acts as an upstream signal for ER stress-induced GORASP2-mediated unconventional (ER/Golgi- independent) trafficking of CFTR to cell membrane by modulating the expression and localization of SEC16A (By similarity). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; The kinase domain is activated by trans- autophosphorylation following homodimerization. Kinase activity is required for activation of the endoribonuclease domain (PubMed:25164867). Endoribonuclease activity is specifically inhibited by hydroxy-aryl-aldehydes (HAA) MKC9989, OICR464 and OICR573 (PubMed:25164867). Monomer (By similarity). Homodimer; disulfide-linked; homodimerization takes place in response to endoplasmic reticulum stress and promotes activation of the kinase and endoribonuclease activities (PubMed:25164867). Dimer formation is driven by hydrophobic interactions within the N-terminal luminal domains and stabilized by disulfide bridges (PubMed:25164867). Interacts (via the luminal region) with DNAJB9/ERdj4; interaction takes place in unstressed cells and promotes recruitment of HSPA5/BiP (By similarity). Interacts (via the luminal region) with HSPA5/BiP; HSPA5/BiP is a negative regulator of the unfolded protein response (UPR) that prevents homodimerization of ERN1/IRE1 and subsequent activation of the protein (By similarity). Interacts with PDIA6, a negative regulator of the UPR; the interaction is direct and disrupts homodimerization (By similarity). Interacts with DAB2IP (via PH domain); the interaction occurs in a endoplasmic reticulum stress-induced dependent manner and is required for subsequent recruitment of TRAF2 to ERN1/IRE1 (PubMed:18281285). Interacts with TAOK3 and TRAF2 (By similarity). Interacts with RNF13 (By similarity). Interacts with LACC1 (By similarity). Interacts (when unphosphorylated) with DDRGK1; interaction is dependent on UFM1 and takes place in response to endoplasmic reticulum stress, regulating ERN1/IRE1-alpha stability (By similarity). Interacts (via N-terminus) with P4HB/PDIA1; the interaction is enhanced by phosphorylation of P4HB by FAM20C in response to endoplasmic reticulum stress and results in attenuation of ERN1 activity (By similarity). Q9EQY0; P25118: Tnfrsf1a; NbExp=2; IntAct=EBI-5480799, EBI-518014; Q9EQY0; P70196: Traf6; NbExp=6; IntAct=EBI-5480799, EBI-448028; Endoplasmic reticulum membrane ; Single-pass type I membrane protein Event=Alternative splicing; Named isoforms=2; Name=1 ; IsoId=Q9EQY0-1; Sequence=Displayed; Name=2 ; IsoId=Q9EQY0-2; Sequence=VSP_050794, VSP_050795; Expressed in liver (at protein level) (PubMed:30118681). Ubiquitously expressed (PubMed:11146108). High levels in thymus, liver and lung. In the brain, preferentially expressed in cortical, hippocampal and olfactory neurons (PubMed:11146108). Autophosphorylated following homodimerization. Autophosphorylation promotes activation of the endoribonuclease domain (PubMed:25164867). In response to ER stress, phosphorylated at Ser-724, Ser-729 and possibly Ser-726; phosphorylation promotes oligomerization and endoribonuclease activity (PubMed:30118681). Dephosphorylated at Ser- 724, Ser-729 and possibly Ser-726 by RPAP2 to abort failed ER-stress adaptation and trigger apoptosis (By similarity). ADP-ribosylated by PARP16 upon ER stress, which increases both kinase and endonuclease activities. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. nucleotide binding magnesium ion binding endothelial cell proliferation catalytic activity endonuclease activity endoribonuclease activity ribonuclease activity protein kinase activity protein serine/threonine kinase activity platelet-derived growth factor receptor binding protein binding ATP binding nuclear inner membrane cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane mRNA cleavage mRNA processing protein phosphorylation apoptotic process response to unfolded protein cell cycle arrest activation of JUN kinase activity metabolic process membrane integral component of membrane kinase activity phosphorylation transferase activity hydrolase activity enzyme binding integral component of endoplasmic reticulum membrane Hsp70 protein binding endoplasmic reticulum unfolded protein response positive regulation of RNA splicing cellular response to unfolded protein response to endoplasmic reticulum stress cellular response to vascular endothelial growth factor stimulus peptidyl-serine autophosphorylation IRE1-mediated unfolded protein response identical protein binding protein homodimerization activity ADP binding protein autophosphorylation metal ion binding unfolded protein binding Hsp90 protein binding mRNA splicing, via endonucleolytic cleavage and ligation intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress cellular response to glucose stimulus RNA phosphodiester bond hydrolysis, endonucleolytic mRNA cleavage involved in mRNA processing positive regulation of endoplasmic reticulum unfolded protein response insulin metabolic process positive regulation of vascular smooth muscle cell proliferation peptidyl-serine trans-autophosphorylation AIP1-IRE1 complex IRE1-TRAF2-ASK1 complex IRE1-RACK1-PP2A complex uc007lyy.1 uc007lyy.2 uc007lyy.3 
ENSMUST00000001079.15 Sec24b ENSMUST00000001079.15 SEC24 homolog B, COPII coat complex component, transcript variant 1 (from RefSeq NM_207209.4) ENSMUST00000001079.1 ENSMUST00000001079.10 ENSMUST00000001079.11 ENSMUST00000001079.12 ENSMUST00000001079.13 ENSMUST00000001079.14 ENSMUST00000001079.2 ENSMUST00000001079.3 ENSMUST00000001079.4 ENSMUST00000001079.5 ENSMUST00000001079.6 ENSMUST00000001079.7 ENSMUST00000001079.8 ENSMUST00000001079.9 NM_207209 Q80ZX0 Q80ZX0_MOUSE Sec24b uc008rit.1 uc008rit.2 uc008rit.3 Cytoplasm, cytosol Cytoplasmic vesicle, COPII-coated vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side Endoplasmic reticulum membrane ; Peripheral membrane protein ; Cytoplasmic side Membrane ; Peripheral membrane protein ; Cytoplasmic side Belongs to the SEC23/SEC24 family. SEC24 subfamily. Golgi membrane neural tube closure auditory receptor cell morphogenesis outflow tract morphogenesis protein binding cytosol intracellular protein transport ER to Golgi vesicle-mediated transport zinc ion binding protein transport cochlear nucleus development COPII vesicle coat ER to Golgi transport vesicle aorta morphogenesis auditory receptor cell stereocilium organization lung morphogenesis lung lobe morphogenesis coronary artery morphogenesis pulmonary artery morphogenesis cardiovascular system development cargo loading into COPII-coated vesicle regulation of establishment of planar polarity involved in neural tube closure regulation of cargo loading into COPII-coated vesicle uc008rit.1 uc008rit.2 uc008rit.3 
ENSMUST00000001080.16 N4bp3 ENSMUST00000001080.16 NEDD4 binding protein 3, transcript variant 1 (from RefSeq NM_145974.4) A2AA64 ENSMUST00000001080.1 ENSMUST00000001080.10 ENSMUST00000001080.11 ENSMUST00000001080.12 ENSMUST00000001080.13 ENSMUST00000001080.14 ENSMUST00000001080.15 ENSMUST00000001080.2 ENSMUST00000001080.3 ENSMUST00000001080.4 ENSMUST00000001080.5 ENSMUST00000001080.6 ENSMUST00000001080.7 ENSMUST00000001080.8 ENSMUST00000001080.9 N4BP3_MOUSE NM_145974 Q3TDC7 Q3URT6 Q7TNR2 Q8C7U1 Q922W0 Q99J06 uc007iue.1 uc007iue.2 uc007iue.3 Plays a positive role in the antiviral innate immune signaling pathway. Mechanistically, interacts with MAVS and functions as a positive regulator to promote 'Lys-63'-linked polyubiquitination of MAVS and thus strengthens the interaction between MAVS and TRAF2 (By similarity). Also plays a role in axon and dendrite arborization during cranial nerve development. May also be important for neural crest migration and early development of other anterior structures including eye, brain and cranial cartilage (By similarity). Binds NEDD4. Interacts with 14-3-3 proteins. Interacts with MAVS. Cytoplasmic vesicle Cell projection, axon Cell projection, dendrite Note=In developing neurons, accumulates in early growth cones and at branching points of axons and dendrites. Belongs to the N4BP3 family. protein binding multicellular organism development nervous system development biological_process axon dendrite cytoplasmic vesicle cell projection uc007iue.1 uc007iue.2 uc007iue.3 
ENSMUST00000001081.10 Rmnd5b ENSMUST00000001081.10 required for meiotic nuclear division 5 homolog B (from RefSeq NM_025346.1) ENSMUST00000001081.1 ENSMUST00000001081.2 ENSMUST00000001081.3 ENSMUST00000001081.4 ENSMUST00000001081.5 ENSMUST00000001081.6 ENSMUST00000001081.7 ENSMUST00000001081.8 ENSMUST00000001081.9 NM_025346 Q91YQ7 RMD5B_MOUSE uc007iud.1 uc007iud.2 Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex. Catalytic activity of the complex is required for normal cell proliferation. The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1. Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5. Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles. Cytoplasm, cytosol nucleus cytoplasm cytosol ubiquitin-dependent protein catabolic process protein ubiquitination transferase activity GID complex proteasome-mediated ubiquitin-dependent protein catabolic process metal ion binding ubiquitin-protein transferase activity uc007iud.1 uc007iud.2 
ENSMUST00000001092.15 Zfp276 ENSMUST00000001092.15 zinc finger protein (C2H2 type) 276 (from RefSeq NM_020497.2) ENSMUST00000001092.1 ENSMUST00000001092.10 ENSMUST00000001092.11 ENSMUST00000001092.12 ENSMUST00000001092.13 ENSMUST00000001092.14 ENSMUST00000001092.2 ENSMUST00000001092.3 ENSMUST00000001092.4 ENSMUST00000001092.5 ENSMUST00000001092.6 ENSMUST00000001092.7 ENSMUST00000001092.8 ENSMUST00000001092.9 NM_020497 Q3TQL7 Q3V088 Q80ZN3 Q8C912 Q8CE64 Q9ESV2 ZN276_MOUSE Znf276 uc009nvb.1 uc009nvb.2 uc009nvb.3 uc009nvb.4 May be involved in transcriptional regulation. Nucleus Chromosome, centromere, kinetochore Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8CE64-1; Sequence=Displayed; Name=2; IsoId=Q8CE64-2; Sequence=VSP_026106, VSP_026107; Found in all the examined tissues, with highest levels in kidney, liver, lung, and spleen. Expressed at low levels in all stages of embryonic development examined. Sequence=AAG01634.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAC31505.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; chromosome, centromeric region kinetochore condensed chromosome kinetochore nucleic acid binding DNA binding nucleus chromosome zinc ion binding metal ion binding uc009nvb.1 uc009nvb.2 uc009nvb.3 uc009nvb.4 
ENSMUST00000001108.11 Add1 ENSMUST00000001108.11 adducin 1, transcript variant 16 (from RefSeq NM_001420955.1) Add1 ENSMUST00000001108.1 ENSMUST00000001108.10 ENSMUST00000001108.2 ENSMUST00000001108.3 ENSMUST00000001108.4 ENSMUST00000001108.5 ENSMUST00000001108.6 ENSMUST00000001108.7 ENSMUST00000001108.8 ENSMUST00000001108.9 F8WGR0 F8WGR0_MOUSE NM_001420955 uc008xcq.1 uc008xcq.2 uc008xcq.3 Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasm, cytoskeleton Membrane ; Peripheral membrane protein ; Cytoplasmic side Belongs to the aldolase class II family. Adducin subfamily. cytoskeleton uc008xcq.1 uc008xcq.2 uc008xcq.3 
ENSMUST00000001112.14 Grk4 ENSMUST00000001112.14 G protein-coupled receptor kinase 4, transcript variant 1 (from RefSeq NM_019497.2) ENSMUST00000001112.1 ENSMUST00000001112.10 ENSMUST00000001112.11 ENSMUST00000001112.12 ENSMUST00000001112.13 ENSMUST00000001112.2 ENSMUST00000001112.3 ENSMUST00000001112.4 ENSMUST00000001112.5 ENSMUST00000001112.6 ENSMUST00000001112.7 ENSMUST00000001112.8 ENSMUST00000001112.9 GRK4_MOUSE Gprk2l NM_019497 O70291 Q3V151 uc008xcz.1 uc008xcz.2 Specifically phosphorylates the activated forms of G protein- coupled receptors. Reaction=[G-protein-coupled receptor] + ATP = [G-protein-coupled receptor]-phosphate + ADP + H(+); Xref=Rhea:RHEA:12008, Rhea:RHEA- COMP:11260, Rhea:RHEA-COMP:11261, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43176, ChEBI:CHEBI:68546, ChEBI:CHEBI:456216; EC=2.7.11.16; Inhibited by heparin. Interacts with DRD3. Cytoplasm. Cytoplasm, cell cortex Palmitoylated. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily. nucleotide binding desensitization of G-protein coupled receptor protein signaling pathway G-protein coupled receptor internalization protein kinase activity protein serine/threonine kinase activity G-protein coupled receptor kinase activity ATP binding cytoplasm cytosol cell cortex protein phosphorylation signal transduction kinase activity phosphorylation transferase activity dendrite receptor internalization neuronal cell body rhodopsin kinase activity uc008xcz.1 uc008xcz.2 
ENSMUST00000001122.6 Slc13a2 ENSMUST00000001122.6 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (from RefSeq NM_022411.4) ENSMUST00000001122.1 ENSMUST00000001122.2 ENSMUST00000001122.3 ENSMUST00000001122.4 ENSMUST00000001122.5 NM_022411 Nadc1 Q9ES88 S13A2_MOUSE Sdct1 uc007kjf.1 uc007kjf.2 uc007kjf.3 Low-affinity sodium-dicarboxylate cotransporter, that mediates the entry of citric acid cycle intermediates, such as succinate, citrate, fumarate and alpha-ketoglutarate (2-oxoglutarate) into the small intestine and renal proximal tubule (PubMed:10966927) (By similarity). Can transport citrate in a Na(+)-dependent manner, recognizing the divalent form of citrate rather than the trivalent form which is normally found in blood (PubMed:10966927). Transports the dicarboxylate into the cell with a probable stoichiometry of 3 Na(+) for 1 divalent dicarboxylate, rendering the process electrogenic (By similarity). Has a critical role in renal dicarboxylate transport (PubMed:17410095). Reaction=3 Na(+)(out) + succinate(out) = 3 Na(+)(in) + succinate(in); Xref=Rhea:RHEA:71919, ChEBI:CHEBI:29101, ChEBI:CHEBI:30031; Evidence=; Reaction=fumarate(out) + 3 Na(+)(out) = fumarate(in) + 3 Na(+)(in); Xref=Rhea:RHEA:71931, ChEBI:CHEBI:29101, ChEBI:CHEBI:29806; Evidence=; Reaction=2-oxoglutarate(out) + 3 Na(+)(out) = 2-oxoglutarate(in) + 3 Na(+)(in); Xref=Rhea:RHEA:71939, ChEBI:CHEBI:16810, ChEBI:CHEBI:29101; Evidence=; Li(+) decreases succinate transport in the presence of Na(+), by competing at one of the three cation binding sites. Kinetic parameters: KM=0.6 mM for citrate ; KM=0.35 mM for succinate ; Apical cell membrane ; Multi-pass membrane protein Highly expressed in kidney and small intestine. Not detectable in brain, heart, stomach and skeletal muscle. Deficient mice display increased urinary excretion of citrate, alpha-ketoglutarate, fumarate, and malate and a modest increase in succinate. Despite the increased excretion, there is no significant change in plasma citrate concentration. No other phenotypic change is identified in these mice. Transporter deficiency do not affect renal function under normal physiological conditions, nor to response to renal injury. Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. ion transport sodium ion transport symporter activity membrane integral component of membrane transmembrane transporter activity transmembrane transport uc007kjf.1 uc007kjf.2 uc007kjf.3 
ENSMUST00000001126.4 Slc46a1 ENSMUST00000001126.4 solute carrier family 46, member 1 (from RefSeq NM_026740.2) D11Ertd18e ENSMUST00000001126.1 ENSMUST00000001126.2 ENSMUST00000001126.3 Hcp1 NM_026740 PCFT_MOUSE Pcft Q571I8 Q5SYG0 Q6PEM8 Q8R1H7 Q9D1P1 Slc46a1 uc007kjg.1 uc007kjg.2 uc007kjg.3 uc007kjg.4 Proton-coupled folate symporter that mediates folate absorption using an H(+) gradient as a driving force (PubMed:17962486). Involved in the intestinal absorption of folates at the brush-border membrane of the proximal jejunum, and the transport from blood to cerebrospinal fluid across the choroid plexus (PubMed:17962486). Functions at acidic pH via alternate outward- and inward-open conformation states (By similarity). Protonation of residues in the outward open state primes the protein for transport (By similarity). Binding of folate promotes breaking of salt bridge network and subsequent closure of the extracellular gate, leading to the inward- open state and release of protons and folate (By similarity). Also able to transport antifolate drugs, such as methotrexate and pemetrexed (PubMed:17962486). Involved in FOLR1-mediated endocytosis by serving as a route of export of folates from acidified endosomes (By similarity). Also acts as a lower-affinity, pH-independent heme carrier protein and constitutes the main importer of heme in the intestine (PubMed:16143108). Imports heme in the retina and retinal pigment epithelium, in neurons of the hippocampus, in hepatocytes and in the renal epithelial cells (PubMed:22058337). Hence, participates in the trafficking of heme and increases intracellular iron content (By similarity). Reaction=folate(in) + H(+)(in) = folate(out) + H(+)(out); Xref=Rhea:RHEA:70159, ChEBI:CHEBI:15378, ChEBI:CHEBI:62501; Evidence=; Reaction=(6S)-5-methyl-5,6,7,8-tetrahydrofolate(in) + H(+)(in) = (6S)- 5-methyl-5,6,7,8-tetrahydrofolate(out) + H(+)(out); Xref=Rhea:RHEA:70167, ChEBI:CHEBI:15378, ChEBI:CHEBI:18608; Evidence=; Reaction=H(+)(in) + methotrexate(in) = H(+)(out) + methotrexate(out); Xref=Rhea:RHEA:70163, ChEBI:CHEBI:15378, ChEBI:CHEBI:50681; Evidence=; Reaction=H(+)(in) + pemetrexed(in) = H(+)(out) + pemetrexed(out); Xref=Rhea:RHEA:70171, ChEBI:CHEBI:15378, ChEBI:CHEBI:63724; Evidence=; Cell membrane ; Multi-pass membrane protein Apical cell membrane ; Multi-pass membrane protein Basolateral cell membrane ; Multi-pass membrane protein Endosome membrane ; Multi-pass membrane protein Cytoplasm Note=Shifts from the apical membrane of intestinal cells iron-deficient cells to the cytoplasm in response to increased in iron stores (PubMed:16143108). Localizes to the basolateral membrane of choroid plexus (PubMed:19074442). Highly expressed in duodenum, especially in duodenal mucosa, the main site of intestinal heme absorption (PubMed:16143108). Expressed in the retina and retinal pigment epithelium (PubMed:17962486, PubMed:22058337). Weakly expressed in the kidney (PubMed:16143108). Not expressed in duodenum before weaning or in placenta (PubMed:16143108). Weakly or not expressed in brain, heart, lung, skeletal muscle, testis and neonatal liver (PubMed:16143108). Up-regulated in response to hypoxia, it is however unclear whether such up-regulation is direct or not (PubMed:16143108). Not induced in the duodenum of iron-deficient mice (PubMed:16143108). Deletion mutant mice develop severe macrocytic normochromic anemia and ineffective erythropoiesis (PubMed:21346251). More than 90% of mice die by 10 to 12 weeks of age (PubMed:21346251). Belongs to the major facilitator superfamily. SLC46A family. Sequence=BAD90126.1; Type=Erroneous initiation; Evidence=; Sequence=CAI25543.1; Type=Erroneous gene model prediction; Evidence=; folic acid binding cytoplasm plasma membrane integral component of plasma membrane folic acid transporter activity hydrogen ion transmembrane transporter activity heme transporter activity methotrexate transporter activity folic acid transport heme transport membrane integral component of membrane apical plasma membrane transmembrane transporter activity brush border membrane methotrexate transport transmembrane transport hydrogen ion transmembrane transport folic acid import into cell uc007kjg.1 uc007kjg.2 uc007kjg.3 uc007kjg.4 
ENSMUST00000001127.11 Poldip2 ENSMUST00000001127.11 polymerase (DNA-directed), delta interacting protein 2, transcript variant 3 (from RefSeq NR_184830.1) ENSMUST00000001127.1 ENSMUST00000001127.10 ENSMUST00000001127.2 ENSMUST00000001127.3 ENSMUST00000001127.4 ENSMUST00000001127.5 ENSMUST00000001127.6 ENSMUST00000001127.7 ENSMUST00000001127.8 ENSMUST00000001127.9 NR_184830 PDIP2_MOUSE Poldip2 Q91VA6 uc007kjo.1 uc007kjo.2 uc007kjo.3 Involved in DNA damage tolerance by regulating translesion synthesis (TLS) of templates carrying DNA damage lesions such as 8oxoG and abasic sites. May act by stimulating activity of DNA polymerases involved in TLS, such as PRIMPOL and polymerase delta (POLD1). Interacts with PCNA and POLD2. Interacts with SSBP1. Interacts with PRIMPOL; leading to enhance DNA polymerase activity of PRIMPOL. Interacts with POLH. Interacts with POLD1; leading to stimulate DNA polymerase activity of POLD1. Mitochondrion matrix Nucleus Note=Mainly localizes to the mitochondrial matrix; a small fraction localizes in the nucleus. DNA binding nucleus mitochondrion negative regulation of macroautophagy protein binding, bridging mitochondrial nucleoid positive regulation of mitotic cell cycle mitochondrion morphogenesis uc007kjo.1 uc007kjo.2 uc007kjo.3 
ENSMUST00000001130.8 Sebox ENSMUST00000001130.8 SEBOX homeobox (from RefSeq NM_008759.3) ENSMUST00000001130.1 ENSMUST00000001130.2 ENSMUST00000001130.3 ENSMUST00000001130.4 ENSMUST00000001130.5 ENSMUST00000001130.6 ENSMUST00000001130.7 NM_008759 Og9x P70368 SEBOX_MOUSE uc007kjm.1 uc007kjm.2 uc007kjm.3 uc007kjm.4 Probable transcription factor involved in the control of specification of mesoderm and endoderm. Nucleus Expressed in brain, skin, ovary and liver. Also expressed in maturing oocytes, eggs, zygotes and 2-cell embryos, but not 4-cell embryos. Expressed in embryos from day 7. Expression is low in 12 day embryos and higher in 18 and 19 day embryos. Belongs to the paired homeobox family. molecular_function DNA binding cellular_component nucleus multicellular organism development embryo development ending in birth or egg hatching cell differentiation oogenesis uc007kjm.1 uc007kjm.2 uc007kjm.3 uc007kjm.4 
ENSMUST00000001147.5 Col6a1 ENSMUST00000001147.5 collagen, type VI, alpha 1 (from RefSeq NM_009933.5) CO6A1_MOUSE ENSMUST00000001147.1 ENSMUST00000001147.2 ENSMUST00000001147.3 ENSMUST00000001147.4 NM_009933 Q04857 uc007fux.1 uc007fux.2 uc007fux.3 Collagen VI acts as a cell-binding protein. Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-4(VI) or alpha-5(VI) or alpha- 6(VI). Secreted, extracellular space, extracellular matrix Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the type VI collagen family. growth plate cartilage chondrocyte morphogenesis collagen binding extracellular region collagen trimer extracellular space cell adhesion extracellular matrix structural constituent conferring tensile strength extracellular matrix macromolecular complex endodermal cell differentiation sarcolemma platelet-derived growth factor binding cellular response to amino acid stimulus uc007fux.1 uc007fux.2 uc007fux.3 
ENSMUST00000001148.11 Pcbp3 ENSMUST00000001148.11 poly(rC) binding protein 3, transcript variant 1 (from RefSeq NM_021568.2) ENSMUST00000001148.1 ENSMUST00000001148.10 ENSMUST00000001148.2 ENSMUST00000001148.3 ENSMUST00000001148.4 ENSMUST00000001148.5 ENSMUST00000001148.6 ENSMUST00000001148.7 ENSMUST00000001148.8 ENSMUST00000001148.9 NM_021568 P57722 PCBP3_MOUSE Q8BSB0 Q8C544 uc007fuz.1 uc007fuz.2 uc007fuz.3 uc007fuz.4 Single-stranded nucleic acid binding protein that binds preferentially to oligo dC. Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P57722-1; Sequence=Displayed; Name=2; IsoId=P57722-2; Sequence=VSP_010015; Widely expressed, with highest levels in testis and fat tissues and lowest in heart. [Isoform 2]: May be due to a competing acceptor splice site. Sequence=AAG09238.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; negative regulation of transcription from RNA polymerase II promoter transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding double-stranded DNA binding RNA binding cytoplasm C-rich single-stranded DNA binding uc007fuz.1 uc007fuz.2 uc007fuz.3 uc007fuz.4 
ENSMUST00000001155.11 Araf ENSMUST00000001155.11 Araf proto-oncogene, serine/threonine kinase, transcript variant 1 (from RefSeq NM_009703.2) A-raf ARAF_MOUSE Araf1 B1AUN9 ENSMUST00000001155.1 ENSMUST00000001155.10 ENSMUST00000001155.2 ENSMUST00000001155.3 ENSMUST00000001155.4 ENSMUST00000001155.5 ENSMUST00000001155.6 ENSMUST00000001155.7 ENSMUST00000001155.8 ENSMUST00000001155.9 NM_009703 P04627 Q99J44 Q9CTT5 Q9D6R6 Q9DBU7 uc009stu.1 uc009stu.2 uc009stu.3 uc009stu.4 Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May also regulate the TOR signaling cascade (By similarity). Phosphorylates PFKFB2 (By similarity). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) ions per subunit. ; Interacts with TH1L/NELFD. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily. MAPK cascade nucleotide binding activation of MAPKK activity protein kinase activity protein serine/threonine kinase activity MAP kinase kinase kinase activity protein binding ATP binding mitochondrion cytosol protein phosphorylation signal transduction kinase activity phosphorylation transferase activity immortalization of host cell regulation of TOR signaling regulation of proteasomal ubiquitin-dependent protein catabolic process positive regulation of peptidyl-serine phosphorylation intracellular signal transduction negative regulation of apoptotic process metal ion binding uc009stu.1 uc009stu.2 uc009stu.3 uc009stu.4 
ENSMUST00000001156.8 Cfp ENSMUST00000001156.8 complement factor properdin (from RefSeq NM_008823.4) ENSMUST00000001156.1 ENSMUST00000001156.2 ENSMUST00000001156.3 ENSMUST00000001156.4 ENSMUST00000001156.5 ENSMUST00000001156.6 ENSMUST00000001156.7 NM_008823 P11680 PROP_MOUSE Pfc Q3TB98 Q3U779 uc009sub.1 uc009sub.2 uc009sub.3 A positive regulator of the alternate pathway of complement (PubMed:28264884). It binds to and stabilizes the C3- and C5-convertase enzyme complexes (By similarity). Inhibits CFI-CFH mediated degradation of Inhibits CFI-CFH mediated degradation of Complement C3 beta chain (C3b) (By similarity). In plasma, properdin exists as dimers, trimers or tetramers in the relative proportions of 26:54:20 (By similarity). Interacts with the pro-C3-convertase enzyme complex (C3b-Bb) comprised of Complement C3 beta chain (C3b) and the Complement factor B Bb fragment (Bb), where it binds (via its TSP type-1 5 domain) with C3b and Bb (By similarity). This interaction stabilizes the complex and allows it to become the active C3-convertase enzyme complex (C3b-Bb-FP) (By similarity). Interacts with C3b (PubMed:28264884). Interacts with CFB (By similarity). Secreted TSP type-1 domain 0 binds to TSP type-1 domain 4, and TSP type- 1 domain 1 binds to TSP type-1 domain 6 (By similarity). These interactions mediate multimerization (By similarity). immune system process extracellular region extracellular space complement activation, alternative pathway secretory granule innate immune response uc009sub.1 uc009sub.2 uc009sub.3 
ENSMUST00000001166.14 Cnnm3 ENSMUST00000001166.14 cyclin M3, transcript variant 1 (from RefSeq NM_053186.3) A3KML7 Acdp3 CNNM3_MOUSE ENSMUST00000001166.1 ENSMUST00000001166.10 ENSMUST00000001166.11 ENSMUST00000001166.12 ENSMUST00000001166.13 ENSMUST00000001166.2 ENSMUST00000001166.3 ENSMUST00000001166.4 ENSMUST00000001166.5 ENSMUST00000001166.6 ENSMUST00000001166.7 ENSMUST00000001166.8 ENSMUST00000001166.9 NM_053186 Q32NY4 Q3UFE5 Q7TSZ4 Q8C342 Q9JIM6 uc007aqj.1 uc007aqj.2 uc007aqj.3 Probable metal transporter. Cell membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q32NY4-1; Sequence=Displayed; Name=2; IsoId=Q32NY4-2; Sequence=VSP_027084; Widely expressed with highest levels in brain, kidney, liver, lung and heart. Shares weak sequence similarity with the cyclin family, hence its name. However, it has no cyclin-like function in vivo. Belongs to the ACDP family. Sequence=AAF86376.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=AAI08418.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; plasma membrane ion transport membrane integral component of membrane transmembrane transporter activity transmembrane transport uc007aqj.1 uc007aqj.2 uc007aqj.3 
ENSMUST00000001172.12 Ankrd39 ENSMUST00000001172.12 ankyrin repeat domain 39, transcript variant 1 (from RefSeq NM_026241.4) ANR39_MOUSE ENSMUST00000001172.1 ENSMUST00000001172.10 ENSMUST00000001172.11 ENSMUST00000001172.2 ENSMUST00000001172.3 ENSMUST00000001172.4 ENSMUST00000001172.5 ENSMUST00000001172.6 ENSMUST00000001172.7 ENSMUST00000001172.8 ENSMUST00000001172.9 NM_026241 Q9D2X0 uc007aqo.1 uc007aqo.2 uc007aqo.3 uc007aqo.4 Belongs to the ANKRD39 family. molecular_function cellular_component biological_process uc007aqo.1 uc007aqo.2 uc007aqo.3 uc007aqo.4 
ENSMUST00000001181.13 Col6a2 ENSMUST00000001181.13 collagen, type VI, alpha 2, transcript variant 1 (from RefSeq NM_146007.2) CO6A2_MOUSE ENSMUST00000001181.1 ENSMUST00000001181.10 ENSMUST00000001181.11 ENSMUST00000001181.12 ENSMUST00000001181.2 ENSMUST00000001181.3 ENSMUST00000001181.4 ENSMUST00000001181.5 ENSMUST00000001181.6 ENSMUST00000001181.7 ENSMUST00000001181.8 ENSMUST00000001181.9 NM_146007 Q02788 Q05505 Q8C972 Q8K229 uc007fuu.1 uc007fuu.2 uc007fuu.3 uc007fuu.4 Collagen VI acts as a cell-binding protein. Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-4(VI) or alpha-5(VI) or alpha- 6(VI). Interacts with CSPG4 (By similarity). Secreted, extracellular space, extracellular matrix Membrane ; Peripheral membrane protein Note=Recruited on membranes by CSPG4. Highly expressed in adipose tissue, lung, adrenal glands and ovary. Lower levels in testis, tongue, skin, kidney, heart, intestine and spleen. No expression in skeletal muscle or liver. Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Belongs to the type VI collagen family. Sequence=BAC31374.2; Type=Erroneous initiation; Evidence=; Sequence=CAA46541.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=CAA46541.1; Type=Frameshift; Evidence=; growth plate cartilage chondrocyte morphogenesis collagen binding extracellular region collagen trimer extracellular space cell adhesion response to glucose membrane extracellular matrix structural constituent conferring tensile strength extracellular matrix macromolecular complex sarcolemma uc007fuu.1 uc007fuu.2 uc007fuu.3 uc007fuu.4 
ENSMUST00000001183.8 Ftcd ENSMUST00000001183.8 formiminotransferase cyclodeaminase (from RefSeq NM_080845.2) ENSMUST00000001183.1 ENSMUST00000001183.2 ENSMUST00000001183.3 ENSMUST00000001183.4 ENSMUST00000001183.5 ENSMUST00000001183.6 ENSMUST00000001183.7 FTCD_MOUSE NM_080845 Q91XD4 uc007fut.1 uc007fut.2 uc007fut.3 uc007fut.4 Folate-dependent enzyme, that displays both transferase and deaminase activity. Serves to channel one-carbon units from formiminoglutamate to the folate pool (By similarity). Binds and promotes bundling of vimentin filaments originating from the Golgi. Reaction=5-formimidoyltetrahydrofolate + L-glutamate = (6S)-5,6,7,8- tetrahydrofolate + N-formimidoyl-L-glutamate; Xref=Rhea:RHEA:15097, ChEBI:CHEBI:29985, ChEBI:CHEBI:57453, ChEBI:CHEBI:57456, ChEBI:CHEBI:58928; EC=2.1.2.5; Reaction=(6S)-5-formyl-5,6,7,8-tetrahydrofolate + L-glutamate = (6S)- 5,6,7,8-tetrahydrofolate + H(+) + N-formyl-L-glutamate; Xref=Rhea:RHEA:23240, ChEBI:CHEBI:15378, ChEBI:CHEBI:17684, ChEBI:CHEBI:29985, ChEBI:CHEBI:57453, ChEBI:CHEBI:57457; EC=2.1.2.5; Reaction=5-formimidoyltetrahydrofolate + 2 H(+) = (6R)-5,10- methenyltetrahydrofolate + NH4(+); Xref=Rhea:RHEA:22736, ChEBI:CHEBI:15378, ChEBI:CHEBI:28938, ChEBI:CHEBI:57455, ChEBI:CHEBI:57456; EC=4.3.1.4; Amino-acid degradation; L-histidine degradation into L- glutamate; L-glutamate from N-formimidoyl-L-glutamate (transferase route): step 1/1. One-carbon metabolism; tetrahydrofolate interconversion. Homooctamer, including four polyglutamate binding sites. The subunits are arranged as a tetramer of dimers, and form a planar ring- shaped structure (By similarity). Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole Golgi apparatus Note=More abundantly located around the mother centriole. In the C-terminal section; belongs to the cyclodeaminase/cyclohydrolase family. In the N-terminal section; belongs to the formiminotransferase family. Golgi membrane catalytic activity folic acid binding cytoplasm endoplasmic reticulum endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus centriole cytosol cytoskeleton plasma membrane histidine metabolic process histidine catabolic process cytoskeleton organization microtubule binding metabolic process transferase activity lyase activity histidine catabolic process to glutamate and formamide histidine catabolic process to glutamate and formate formimidoyltransferase activity glutamate formimidoyltransferase activity formimidoyltetrahydrofolate cyclodeaminase activity smooth endoplasmic reticulum membrane tetrahydrofolate interconversion cellular metabolic process uc007fut.1 uc007fut.2 uc007fut.3 uc007fut.4 
ENSMUST00000001184.10 Mxd1 ENSMUST00000001184.10 MAX dimerization protein 1, transcript variant 1 (from RefSeq NM_010751.4) ENSMUST00000001184.1 ENSMUST00000001184.2 ENSMUST00000001184.3 ENSMUST00000001184.4 ENSMUST00000001184.5 ENSMUST00000001184.6 ENSMUST00000001184.7 ENSMUST00000001184.8 ENSMUST00000001184.9 Mxd1 NM_010751 Q8K1Z8 Q8K1Z8_MOUSE uc009csh.1 uc009csh.2 uc009csh.3 uc009csh.4 uc009csh.5 Nucleus negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleoplasm mitochondrion cytosol protein dimerization activity uc009csh.1 uc009csh.2 uc009csh.3 uc009csh.4 uc009csh.5 
ENSMUST00000001185.14 Gmcl1 ENSMUST00000001185.14 germ cell-less, spermatogenesis associated 1 (from RefSeq NM_011818.3) ENSMUST00000001185.1 ENSMUST00000001185.10 ENSMUST00000001185.11 ENSMUST00000001185.12 ENSMUST00000001185.13 ENSMUST00000001185.2 ENSMUST00000001185.3 ENSMUST00000001185.4 ENSMUST00000001185.5 ENSMUST00000001185.6 ENSMUST00000001185.7 ENSMUST00000001185.8 ENSMUST00000001185.9 GMCL1_MOUSE Gcl Gcl1 NM_011818 Q920G9 Q9DBW5 Q9QUP6 uc009csl.1 uc009csl.2 uc009csl.3 uc009csl.4 Possible function in spermatogenesis. Enhances the degradation of MDM2 and increases the amount of p53 probably by modulating the nucleocytoplasmic transport. Interacts with TMPO-Beta, TSG101 and TFDP2. Interacts with EMD (By similarity). Nucleus matrix. Ubiquitously expressed at low levels throughout development and in adult tissues. Highest levels in pachytene and diplotene stage spermatocytes and primordial germ cells of the male and the female. protein binding nucleus nuclear envelope regulation of transcription, DNA-templated multicellular organism development spermatogenesis nuclear matrix cell differentiation uc009csl.1 uc009csl.2 uc009csl.3 uc009csl.4 
ENSMUST00000001186.11 Snrnp27 ENSMUST00000001186.11 small nuclear ribonucleoprotein 27 (U4/U6.U5) (from RefSeq NM_025665.2) ENSMUST00000001186.1 ENSMUST00000001186.10 ENSMUST00000001186.2 ENSMUST00000001186.3 ENSMUST00000001186.4 ENSMUST00000001186.5 ENSMUST00000001186.6 ENSMUST00000001186.7 ENSMUST00000001186.8 ENSMUST00000001186.9 NM_025665 Q8BRA8 Q8K194 Q9CSV0 SNR27_MOUSE uc009csj.1 uc009csj.2 uc009csj.3 May play a role in mRNA splicing. Part of a tri-snRNP complex. Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8K194-1; Sequence=Displayed; Name=2; IsoId=Q8K194-2; Sequence=VSP_017317; Belongs to the SNUT3 family. molecular_function nucleus mRNA processing biological_process RNA splicing uc009csj.1 uc009csj.2 uc009csj.3 
ENSMUST00000001187.15 Anxa4 ENSMUST00000001187.15 annexin A4, transcript variant 2 (from RefSeq NM_013471.3) ANXA4_MOUSE Anx4 ENSMUST00000001187.1 ENSMUST00000001187.10 ENSMUST00000001187.11 ENSMUST00000001187.12 ENSMUST00000001187.13 ENSMUST00000001187.14 ENSMUST00000001187.2 ENSMUST00000001187.3 ENSMUST00000001187.4 ENSMUST00000001187.5 ENSMUST00000001187.6 ENSMUST00000001187.7 ENSMUST00000001187.8 ENSMUST00000001187.9 NM_013471 P97429 Q3UCL0 uc009csn.1 uc009csn.2 uc009csn.3 uc009csn.4 Calcium/phospholipid-binding protein which promotes membrane fusion and is involved in exocytosis. Zymogen granule membrane ; Peripheral membrane protein A pair of annexin repeats may form one binding site for calcium and phospholipid. Seems to bind one calcium ion with high affinity. Belongs to the annexin family. kidney development calcium ion binding calcium-dependent phospholipid binding nucleus cytoplasm cytosol plasma membrane regulation of transcription from RNA polymerase II promoter Notch signaling pathway heparin binding cell surface vesicle membrane apical plasma membrane epithelial cell differentiation nuclear membrane negative regulation of NF-kappaB transcription factor activity chondroitin sulfate binding identical protein binding calcium-dependent protein binding perinuclear region of cytoplasm NF-kappaB binding negative regulation of interleukin-8 secretion uc009csn.1 uc009csn.2 uc009csn.3 uc009csn.4 
ENSMUST00000001202.15 Ocrl ENSMUST00000001202.15 OCRL, inositol polyphosphate-5-phosphatase (from RefSeq NM_177215.3) ENSMUST00000001202.1 ENSMUST00000001202.10 ENSMUST00000001202.11 ENSMUST00000001202.12 ENSMUST00000001202.13 ENSMUST00000001202.14 ENSMUST00000001202.2 ENSMUST00000001202.3 ENSMUST00000001202.4 ENSMUST00000001202.5 ENSMUST00000001202.6 ENSMUST00000001202.7 ENSMUST00000001202.8 ENSMUST00000001202.9 NM_177215 OCRL_MOUSE Ocrl Ocrl1 Q6NVF0 Q8BXC9 uc009tbr.1 uc009tbr.2 uc009tbr.3 uc009tbr.4 Catalyzes the hydrolysis of the 5-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2. Able also to hydrolyze the 5-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate. Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5- bisphosphate that is associated with endosomes. Involved in primary cilia assembly. Acts as a regulator of phagocytosis, hydrolyzing PtdIns(4,5)P2 to promote phagosome closure, through attenuation of PI3K signaling. Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5- bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo- inositol 4-phosphate) + phosphate; Xref=Rhea:RHEA:22764, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58178, ChEBI:CHEBI:58456; EC=3.1.3.36; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22765; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5- trisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo- inositol-3,4-bisphosphate) + phosphate; Xref=Rhea:RHEA:25528, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57658, ChEBI:CHEBI:57836; EC=3.1.3.86; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:25529; Evidence=; Reaction=1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo- inositol 1,3,4-trisphosphate + phosphate; Xref=Rhea:RHEA:11392, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57895, ChEBI:CHEBI:58414; EC=3.1.3.56; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11393; Evidence=; Reaction=1D-myo-inositol 1,4,5-trisphosphate + H2O = 1D-myo-inositol 1,4-bisphosphate + phosphate; Xref=Rhea:RHEA:19797, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58282, ChEBI:CHEBI:203600; EC=3.1.3.56; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19798; Evidence=; Interacts with APPL1, PHETA1/SES1 and PHETA2/SES2; APPL1- binding and PHETA1-binding are mutually exclusive (By similarity). Interacts with clathrin heavy chain. Interacts with several Rab GTPases, at least RAB1B, RAB5A, RAB6A, RAB8A and RAB31; these interactions may play a dual role in targeting OCRL to the specific membranes and stimulating the phosphatase activitye (PubMed:25869668). Interaction with RAB8A modulates OCRL recruitment to cilia. Interacts with RAB31 (By similarity). Interacts with INPP5F (PubMed:25869668). Cytoplasmic vesicle, phagosome membrane Early endosome membrane Membrane, clathrin-coated pit Cell projection, cilium, photoreceptor outer segment Cell projection, cilium Cytoplasmic vesicle Endosome Golgi apparatus, trans-Golgi network Note=Also found on macropinosomes. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6NVF0-1; Sequence=Displayed; Name=2; IsoId=Q6NVF0-2; Sequence=VSP_045749, VSP_045750; The ASH (ASPM-SPD2-Hydin) and RhoGAP (Rho GTPase activating) domains form a single folding module. The ASH domain has an immunoglobulin-like fold, the Rho-GAP domain lacks the catalytic arginine and is catalytically inactive. The ASH-RhoGAP module regulates the majority of the protein-protein interactions currently described. The ASH domain mediates association with membrane-targeting Rab GTPases. The Rho-GAP domain interacts with the endocytic adapter APPL1, which is then displaced by PHETA1 and PHETA2 as endosomes mature (By similarity). Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family. in utero embryonic development photoreceptor outer segment phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity inositol-polyphosphate 5-phosphatase activity GTPase activator activity nucleus cytoplasm endosome early endosome Golgi apparatus trans-Golgi network plasma membrane clathrin-coated pit cilium signal transduction membrane hydrolase activity cell projection organization clathrin-coated vesicle phagocytic vesicle membrane cytoplasmic vesicle early endosome membrane cell projection regulation of GTPase activity positive regulation of GTPase activity inositol phosphate dephosphorylation phosphatidylinositol dephosphorylation Rac GTPase binding inositol-1,4,5-trisphosphate 5-phosphatase activity inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity inositol phosphate phosphatase activity cilium assembly uc009tbr.1 uc009tbr.2 uc009tbr.3 uc009tbr.4 
ENSMUST00000001240.12 Agpat3 ENSMUST00000001240.12 1-acylglycerol-3-phosphate O-acyltransferase 3, transcript variant 1 (from RefSeq NM_053014.4) Agpat3 C4B4E7 ENSMUST00000001240.1 ENSMUST00000001240.10 ENSMUST00000001240.11 ENSMUST00000001240.2 ENSMUST00000001240.3 ENSMUST00000001240.4 ENSMUST00000001240.5 ENSMUST00000001240.6 ENSMUST00000001240.7 ENSMUST00000001240.8 ENSMUST00000001240.9 Lpaat3 NM_053014 PLCC_MOUSE Q7TT39 Q8BST2 Q9D517 uc007fxr.1 uc007fxr.2 uc007fxr.3 Converts 1-acyl-sn-glycerol-3-phosphate (lysophosphatidic acid or LPA) into 1,2-diacyl-sn-glycerol-3-phosphate (phosphatidic acid or PA) by incorporating an acyl moiety at the sn-2 position of the glycerol backbone (PubMed:15367102). Acts on LPA containing saturated or unsaturated fatty acids C16:0-C20:4 at the sn-1 position using C18:1, C20:4 or C18:2-CoA as the acyl donor (By similarity). Also acts on lysophosphatidylcholine, lysophosphatidylinositol and lysophosphatidylserine using C18:1 or C20:4-CoA (By similarity). Has a preference for arachidonoyl-CoA as a donor (PubMed:19114731). Has also a modest lysophosphatidylinositol acyltransferase (LPIAT) activity, converts lysophosphatidylinositol (LPI) into phosphatidylinositol (PubMed:19114731). Reaction=a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl- sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:19709, ChEBI:CHEBI:57287, ChEBI:CHEBI:57970, ChEBI:CHEBI:58342, ChEBI:CHEBI:58608; EC=2.3.1.51; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19710; Evidence=; Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + pentadecanoyl-CoA = 1-(9Z)-octadecenoyl-2-pentadecanoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37175, ChEBI:CHEBI:57287, ChEBI:CHEBI:74309, ChEBI:CHEBI:74544, ChEBI:CHEBI:74578; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37176; Evidence=; Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + heptadecanoyl-CoA = 1-(9Z)-octadecenoyl-2-heptadecanoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37155, ChEBI:CHEBI:57287, ChEBI:CHEBI:74307, ChEBI:CHEBI:74544, ChEBI:CHEBI:74558; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37156; Evidence=; Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + octadecanoyl-CoA = 1-(9Z-octadecenoyl)-2-octadecanoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37147, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:74544, ChEBI:CHEBI:74552; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37148; Evidence=; Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + nonadecanoyl-CoA = 1-(9Z)-octadecenoyl-2-nonadecanoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37595, ChEBI:CHEBI:57287, ChEBI:CHEBI:74544, ChEBI:CHEBI:75104, ChEBI:CHEBI:75105; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37596; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-(9Z-octadecenoyl)-sn- glycero-3-phosphate = 1-(9Z)-octadecenoyl-2-(5Z,8Z,11Z,14Z)- eicosatetraenoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37443, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:74544, ChEBI:CHEBI:74928; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37444; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero-3- phosphate = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37131, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:74544, ChEBI:CHEBI:74546; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37132; Evidence=; Reaction=(9Z,12Z)-octadecadienoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero- 3-phosphate = 1-(9Z)-octadecenoyl-2-(9Z,12Z)-octadecadienoyl-sn- glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37159, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:74544, ChEBI:CHEBI:74563; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37160; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-(9Z-octadecenoyl)-sn- glycero-3-phosphocholine = 1-(9Z)-octadecenoyl-2-(5Z,8Z,11Z,14Z)- icosatetraenoyl-sn-glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:37395, ChEBI:CHEBI:28610, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:74671; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37396; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-(9Z-octadecenoyl)-sn- glycero-3-phospho-(1D-myo-inositol) = 1-(9Z-octadecenoyl)-2- (5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phospho-1D-myo-inositol + CoA; Xref=Rhea:RHEA:42216, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:78762, ChEBI:CHEBI:78765; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42217; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-(9Z-octadecenoyl)-sn- glycero-3-phospho-L-serine = 1-(9Z-octadecenoyl)-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phospho-L-serine + CoA; Xref=Rhea:RHEA:37379, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:74617, ChEBI:CHEBI:74897; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37380; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-hexadecanoyl-sn-glycero-3-phosphate = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:33187, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:57518, ChEBI:CHEBI:64839; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:33188; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-hexadecanoyl-sn- glycero-3-phosphate = 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:35915, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:57518, ChEBI:CHEBI:72864; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:35916; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-heptadecanoyl-sn- glycero-3-phosphate = 1-heptadecanoyl-2-(5Z,8Z,11Z,14Z)- eicosatetraenoyl-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:42220, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:74554, ChEBI:CHEBI:78768; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42221; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-octadecanoyl-sn-glycero-3-phosphate = 1-octadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:37163, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:74560, ChEBI:CHEBI:74565; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37164; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-octadecanoyl-sn- glycero-3-phosphate = 1-octadecanoyl-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:42588, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:74565, ChEBI:CHEBI:77091; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42589; Evidence=; Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + hexadecanoyl-CoA = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:42592, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:64839, ChEBI:CHEBI:74544; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42593; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-O-(9Z-octadecenyl)- sn-glycero-3-phosphate = 1-O-(9Z-octadecenyl)-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phosphate + CoA; Xref=Rhea:RHEA:45404, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:78402, ChEBI:CHEBI:85231; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45405; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + a 1-acyl-sn-glycero-3- phospho-(1D-myo-inositol) = a 1-acyl-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phospho-(1D-myo-inositol) + CoA; Xref=Rhea:RHEA:37015, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:64771, ChEBI:CHEBI:75243; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37016; Evidence=; In males, activity increases in an age-dependent fashion, maybe derived from the induction by sex-hormones. Kinetic parameters: KM=15.9 uM for arachidonoyl-CoA ; KM=26.3 uM for palmitoyl-LPA ; Vmax=50.4 nmol/min/mg enzyme toward arachidonoyl-CoA ; Vmax=21.8 nmol/min/mg enzyme toward palmitoyl-LPA ; Phospholipid metabolism; CDP-diacylglycerol biosynthesis; CDP- diacylglycerol from sn-glycerol 3-phosphate: step 2/3. Endoplasmic reticulum membrane ; Multi-pass membrane protein Nucleus envelope Widely expressed. Mainly expressed in testis, kidney and liver (at protein level). Up-regulated in the heart by clofibrate, a PPAR-alpha agonist. The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate. Belongs to the 1-acyl-sn-glycerol-3-phosphate acyltransferase family. Sequence=BAC27043.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; 1-acylglycerol-3-phosphate O-acyltransferase activity nucleus nuclear envelope endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process phospholipid biosynthetic process membrane integral component of membrane CDP-diacylglycerol biosynthetic process transferase activity transferase activity, transferring acyl groups lysophosphatidic acid acyltransferase activity uc007fxr.1 uc007fxr.2 uc007fxr.3 
ENSMUST00000001242.9 Gatd3a ENSMUST00000001242.9 glutamine amidotransferase like class 1 domain containing 3A, transcript variant 1 (from RefSeq NM_138601.3) D10Jhu81e ENSMUST00000001242.1 ENSMUST00000001242.2 ENSMUST00000001242.3 ENSMUST00000001242.4 ENSMUST00000001242.5 ENSMUST00000001242.6 ENSMUST00000001242.7 ENSMUST00000001242.8 GAL3A_MOUSE Gatd3 Gatd3a NM_138601 Q9D172 uc007fxj.1 uc007fxj.2 uc007fxj.3 Mitochondrion Belongs to the GATD3 family. molecular_function mitochondrion biological_process uc007fxj.1 uc007fxj.2 uc007fxj.3 
ENSMUST00000001247.12 Rnf32 ENSMUST00000001247.12 ring finger protein 32, transcript variant 1 (from RefSeq NM_001289757.1) ENSMUST00000001247.1 ENSMUST00000001247.10 ENSMUST00000001247.11 ENSMUST00000001247.2 ENSMUST00000001247.3 ENSMUST00000001247.4 ENSMUST00000001247.5 ENSMUST00000001247.6 ENSMUST00000001247.7 ENSMUST00000001247.8 ENSMUST00000001247.9 Lmbr2 NM_001289757 Q9D9X0 Q9DAJ3 Q9JIT1 RNF32_MOUSE uc008wue.1 uc008wue.2 uc008wue.3 uc008wue.4 May play a role in sperm formation. Cytoplasm No coding region alterations in either Hemimelic extra- toes (Hx) or Hammertoe (Hm) mutant mice was detected. molecular_function cytoplasm endosome biological_process aggresome metal ion binding uc008wue.1 uc008wue.2 uc008wue.3 uc008wue.4 
ENSMUST00000001253.8 Slc26a4 ENSMUST00000001253.8 solute carrier family 26, member 4 (from RefSeq NM_011867.4) ENSMUST00000001253.1 ENSMUST00000001253.2 ENSMUST00000001253.3 ENSMUST00000001253.4 ENSMUST00000001253.5 ENSMUST00000001253.6 ENSMUST00000001253.7 NM_011867 Pds Q9R155 S26A4_MOUSE uc007nho.1 uc007nho.2 uc007nho.3 Sodium-independent transporter of chloride and iodide (By similarity). Mediates electroneutral iodide-chloride, iodide- bicarbonate and chloride-bicarbonate exchange with 1:1 stoichiometry (PubMed:11274445, PubMed:18565999). Mediates elctroneutral chloride- formate exchange (By similarity). Reaction=chloride(in) = chloride(out); Xref=Rhea:RHEA:29823, ChEBI:CHEBI:17996; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:29825; Evidence=; Reaction=iodide(out) = iodide(in); Xref=Rhea:RHEA:66324, ChEBI:CHEBI:16382; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:66325; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:66326; Evidence=; Reaction=chloride(out) + hydrogencarbonate(in) = chloride(in) + hydrogencarbonate(out); Xref=Rhea:RHEA:72363, ChEBI:CHEBI:17544, ChEBI:CHEBI:17996; Evidence= Reaction=hydrogencarbonate(out) + iodide(in) = hydrogencarbonate(in) + iodide(out); Xref=Rhea:RHEA:72375, ChEBI:CHEBI:16382, ChEBI:CHEBI:17544; Evidence=; Reaction=chloride(out) + iodide(in) = chloride(in) + iodide(out); Xref=Rhea:RHEA:72379, ChEBI:CHEBI:16382, ChEBI:CHEBI:17996; Evidence=; Reaction=chloride(out) + formate(in) = chloride(in) + formate(out); Xref=Rhea:RHEA:72267, ChEBI:CHEBI:15740, ChEBI:CHEBI:17996; Evidence=; Interacts with IQGAP1 (PubMed:35601831). This interaction enhances the chloride-bicarbonate exchange activity of SLC26A4 (By similarity). Apical cell membrane ulti-pass membrane protein Cell membrane ; Multi-pass membrane protein Note=Localizes to the apical brush border of cells in the cortical collecting ducts of the kidney. Highly expressed in the kidney (at protein level) (PubMed:11274445, PubMed:35601831). Throughout the endolymphatic duct and sac, in distinct areas of the utricle and saccule, and in the external sulcus region within the cochlea (PubMed:10449762). Expressed in the parotid gland (PubMed:18565999). Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. plasma membrane integral component of plasma membrane regulation of pH secondary active sulfate transmembrane transporter activity sulfate transport anion transmembrane transporter activity animal organ morphogenesis bicarbonate transmembrane transporter activity chloride transmembrane transporter activity iodide transmembrane transporter activity sulfate transmembrane transporter activity anion:anion antiporter activity inorganic anion transport bicarbonate transport iodide transport membrane integral component of membrane apical plasma membrane oxalate transmembrane transporter activity oxalate transport brush border membrane regulation of protein localization transmembrane transport extracellular exosome anion transmembrane transport sulfate transmembrane transport chloride transmembrane transport uc007nho.1 uc007nho.2 uc007nho.3 
ENSMUST00000001254.6 Slc26a3 ENSMUST00000001254.6 solute carrier family 26, member 3 (from RefSeq NM_021353.3) B2RTD9 Dra ENSMUST00000001254.1 ENSMUST00000001254.2 ENSMUST00000001254.3 ENSMUST00000001254.4 ENSMUST00000001254.5 NM_021353 Q9WVC8 S26A3_MOUSE uc007nhj.1 uc007nhj.2 uc007nhj.3 uc007nhj.4 uc007nhj.5 This gene encodes a member of the solute carrier/sulfate transporter family. The encoded protein is predominantly expressed in the intestine where it is essential for chloride absorption. Disruption of this gene results in chloride-rich diarrhea and compensatory up-regulation of ion-absorbing transporters. [provided by RefSeq, Dec 2012]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript from the same strain was available for the full length of the gene. The extent of this transcript is supported by transcript alignments and orthologous data. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF136751.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849377, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Mediates chloride-bicarbonate exchange with a chloride bicarbonate stoichiometry of 2:1 in the intestinal epithelia (PubMed:10428871). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:21976599). Reaction=2 chloride(out) + hydrogencarbonate(in) = 2 chloride(in) + hydrogencarbonate(out); Xref=Rhea:RHEA:72203, ChEBI:CHEBI:17544, ChEBI:CHEBI:17996; Evidence= Interacts with PDZK1 (By similarity). Interacts with CFTR, SLC26A6 and NHERF1 (PubMed:21976599). Interacts (via PDZ-binding motif) with NHERF4 (via the third PDZ domain) (PubMed:22627094). This interaction leads to decreased expression of SLC26A3 on the cell membrane resulting in its reduced exchanger activity (By similarity). Q9WVC8; P26361: Cftr; NbExp=3; IntAct=EBI-6895537, EBI-6115317; Q9WVC8; P70441: Nherf1; NbExp=2; IntAct=EBI-6895537, EBI-1184085; Q9WVC8; Q8CIW6: Slc26a6; NbExp=2; IntAct=EBI-6895537, EBI-6895517; Apical cell membrane ; Multi-pass membrane protein Membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein Note=Localized in sperm membranes. Midpiece of sperm tail. Colocalizes with CFTR at the midpiece of sperm tail. Expressed in spermatogenic cells (PubMed:21976599). Expressed at high levels in cecum and colon and at lower levels in small intestine (PubMed:10428871). N-glycosylation is required for efficient cell surface expression, and protection from proteolytic degradation. Belongs to the SLC26A/SulP transporter (TC 2.A.53) family. protein binding plasma membrane integral component of plasma membrane chloride transport secondary active sulfate transmembrane transporter activity sulfate transport bicarbonate transmembrane transporter activity chloride transmembrane transporter activity sulfate transmembrane transporter activity antiporter activity anion:anion antiporter activity bicarbonate transport membrane integral component of membrane apical plasma membrane oxalate transmembrane transporter activity oxalate transport brush border membrane sperm capacitation intracellular pH elevation transmembrane transport membrane hyperpolarization cellular response to cAMP sperm midpiece anion transmembrane transport sulfate transmembrane transport chloride transmembrane transport uc007nhj.1 uc007nhj.2 uc007nhj.3 uc007nhj.4 uc007nhj.5 
ENSMUST00000001256.11 Sema6b ENSMUST00000001256.11 sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B, transcript variant 2 (from RefSeq NM_001130456.1) ENSMUST00000001256.1 ENSMUST00000001256.10 ENSMUST00000001256.2 ENSMUST00000001256.3 ENSMUST00000001256.4 ENSMUST00000001256.5 ENSMUST00000001256.6 ENSMUST00000001256.7 ENSMUST00000001256.8 ENSMUST00000001256.9 NM_001130456 Q3UTK5 Q3UTK5_MOUSE Sema6b uc008dbe.1 uc008dbe.2 Lacks conserved residue(s) required for the propagation of feature annotation. membrane integral component of membrane semaphorin receptor binding uc008dbe.1 uc008dbe.2 
ENSMUST00000001258.15 Uhrf1 ENSMUST00000001258.15 ubiquitin-like, containing PHD and RING finger domains, 1, transcript variant 1 (from RefSeq NM_010931.4) ENSMUST00000001258.1 ENSMUST00000001258.10 ENSMUST00000001258.11 ENSMUST00000001258.12 ENSMUST00000001258.13 ENSMUST00000001258.14 ENSMUST00000001258.2 ENSMUST00000001258.3 ENSMUST00000001258.4 ENSMUST00000001258.5 ENSMUST00000001258.6 ENSMUST00000001258.7 ENSMUST00000001258.8 ENSMUST00000001258.9 NM_010931 Np95 Q3U9D7 Q3U9P2 Q3UI74 Q3UIE6 Q3ULF2 Q3ULQ0 Q8C6F1 Q8VDF2 Q8VIA1 Q9Z1H6 UHRF1_MOUSE uc008dbp.1 uc008dbp.2 uc008dbp.3 uc008dbp.4 Multidomain protein that acts as a key epigenetic regulator by bridging DNA methylation and chromatin modification. Specifically recognizes and binds hemimethylated DNA at replication forks via its YDG domain and recruits DNMT1 methyltransferase to ensure faithful propagation of the DNA methylation patterns through DNA replication. In addition to its role in maintenance of DNA methylation, also plays a key role in chromatin modification: through its tudor-like regions and PHD-type zinc fingers, specifically recognizes and binds histone H3 trimethylated at 'Lys-9' (H3K9me3) and unmethylated at 'Arg-2' (H3R2me0), respectively, and recruits chromatin proteins. Enriched in pericentric heterochromatin where it recruits different chromatin modifiers required for this chromatin replication. Also localizes to euchromatic regions where it negatively regulates transcription possibly by impacting DNA methylation and histone modifications. Has E3 ubiquitin-protein ligase activity by mediating the ubiquitination of target proteins such as histone H3 and PML. It is still unclear how E3 ubiquitin-protein ligase activity is related to its role in chromatin in vivo. Plays a role in DNA repair by cooperating with UHRF2 to ensure recruitment of FANCD2 to interstrand cross-links (ICLs) leading to FANCD2 activation. Plays a pivotal role in the establishment of correct spindle architecture by catalyzing the 'Lys-63'-linked ubiquitination of KIF11, thereby controlling KIF11 localization on the spindle. Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Protein modification; protein ubiquitination. Interacts with DNMT3A and DNMT3B. Interacts with DNMT1; the interaction is direct. Interacts with USP7; leading to its deubiquitination. Interacts with HDAC1, but not with HDAC2. Interacts with BLTP3A. Interacts with PML. Interacts with EHMT2. Binds hemimethylated CpG containing oligonucleotides (PubMed:15361834, PubMed:17994007, PubMed:18772888, PubMed:18772891, PubMed:19056828, PubMed:19798101, PubMed:21268065). Interacts with PRAMEL7 (PubMed:28604677). Interacts with ZNF263; recruited to the SIX3 promoter along with other proteins involved in chromatin modification and transcriptional corepression where it contributes to transcriptional repression (By similarity). Interacts with UHRF2 (By similarity). Interacts with FANCD2 (By similarity). Interacts with TET1 isoform 2; this interaction induces the recruitment of TET1 isoform 2 to replicating heterochromatin (PubMed:36056023). Nucleus te=Associated, through the YDG domain (also called SRA domain), with replicating DNA from early to late S phase, including at replicating pericentric heterochromatin (PubMed:36056023). Also localizes to euchromatic regions. In non-S- phase cells, homogenously distributed through the nucleus (PubMed:36056023). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8VDF2-1; Sequence=Displayed; Name=2; IsoId=Q8VDF2-2; Sequence=VSP_044395; Expressed in thymus, testis, spleen and lung. Within testis, expressed in almost all cells except elongated spermatids. Up-regulated in proliferating cells, and down-regulated in quiescent or differentiated cells. Early induced by E1A in postmitotic cells. Down-regulated by aphidicolin. The tudor-like regions specifically recognize and bind histone H3 unmethylated at 'Arg-2' (H3R2me0), while the PHD-type zinc finger specifically recognizes and binds histone H3 trimethylated at 'Lys-9' (H3K9me3). The tudor-like regions simultaneously recognizes H3K9me3 through a conserved aromatic cage in the first tudor-like subdomain and unmodified H3K4 (H3K4me0) within a groove between the tandem subdomains (PubMed:21489993). The linker region plays a role in the formation of a histone H3-binding hole between the reader modules formed by the tudor- like regions and the PHD-type zinc finger by making extended contacts with the tandem tudor-like regions. The YDG domain (also named SRA domain) specifically recognizes and binds hemimethylated DNA at replication forks (DNA that is only methylated on the mother strand of replicating DNA) (PubMed:17994007). The YDG domain contains a binding pocket that accommodates the 5- methylcytosine that is flipped out of the duplex DNA. 2 specialized loops reach through the resulting gap in the DNA from both the major and the minor grooves to read the other 3 bases of the CpG duplex. The major groove loop confers both specificity for the CpG dinucleotide and discrimination against methylation of deoxycytidine of the complementary strand (PubMed:18772888). The YDG domain also recognizes and binds 5-hydroxymethylcytosine (5hmC). The RING finger is required for ubiquitin ligase activity. Phosphorylation at Ser-303 of the linker region decreases the binding to H3K9me3. Phosphorylation at Ser-639 by CDK1 during M phase impairs interaction with USP7, preventing deubiquitination and leading to degradation by the proteasome (By similarity). Ubiquitinated; which leads to proteasomal degradation. Autoubiquitinated; interaction with USP7 leads to deubiquitination and prevents degradation. Ubiquitination and degradation takes place during M phase, when phosphorylation at Ser-639 prevents interaction with USP7 and subsequent deubiquitination. Polyubiquitination may be stimulated by DNA damage. Mice display a sensitization to DNA damage and replication block, and die in mid-gestation. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin euchromatin heterochromatin core promoter proximal region sequence-specific DNA binding DNA binding ubiquitin-protein transferase activity protein binding nucleus nucleoplasm replication fork nuclear heterochromatin plasma membrane DNA repair chromatin organization ubiquitin-dependent protein catabolic process cellular response to DNA damage stimulus cell cycle zinc ion binding methyl-CpG binding maintenance of DNA methylation histone monoubiquitination nuclear matrix protein ubiquitination histone ubiquitination transferase activity cytoplasmic vesicle nucleosomal histone binding positive regulation of cellular protein metabolic process methylated histone binding histone binding identical protein binding hemi-methylated DNA-binding metal ion binding regulation of epithelial cell proliferation protein autoubiquitination ubiquitin protein ligase activity uc008dbp.1 uc008dbp.2 uc008dbp.3 uc008dbp.4 
ENSMUST00000001280.14 Gramd1a ENSMUST00000001280.14 GRAM domain containing 1A, transcript variant 2 (from RefSeq NM_027898.4) ASTRA_MOUSE D7Bwg0611e ENSMUST00000001280.1 ENSMUST00000001280.10 ENSMUST00000001280.11 ENSMUST00000001280.12 ENSMUST00000001280.13 ENSMUST00000001280.2 ENSMUST00000001280.3 ENSMUST00000001280.4 ENSMUST00000001280.5 ENSMUST00000001280.6 ENSMUST00000001280.7 ENSMUST00000001280.8 ENSMUST00000001280.9 Gramd1a Kiaa1533 NM_027898 Q3U914 Q3UD89 Q69ZH2 Q8BNF1 Q8VEF1 uc009gif.1 uc009gif.2 uc009gif.3 Cholesterol transporter that mediates non-vesicular transport of cholesterol from the plasma membrane (PM) to the endoplasmic reticulum (ER) (PubMed:30220461). Contains unique domains for binding cholesterol and the PM, thereby serving as a molecular bridge for the transfer of cholesterol from the PM to the ER (PubMed:30220461). Plays a crucial role in cholesterol homeostasis and has the unique ability to localize to the PM based on the level of membrane cholesterol (PubMed:30220461). In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) which is mediated by the GRAM domain (PubMed:30220461). At the EPCS, the sterol-binding VASt/ASTER domain binds to the cholesterol in the PM and facilitates its transfer from the PM to ER (PubMed:30220461). May play a role in tumor progression (PubMed:27585821). Plays a role in autophagy regulation and is required for biogenesis of the autophagosome. This function in autophagy requires its cholesterol- transfer activity (By similarity). Endoplasmic reticulum membrane ; Single-pass membrane protein Cell membrane ; Single-pass membrane protein Cytoplasmic vesicle, autophagosome Note=In lipid-poor conditions localizes to the ER membrane and in response to excess cholesterol in the PM is recruited to the endoplasmic reticulum-plasma membrane contact sites (EPCS) (PubMed:30220461). Localizes to distinct EPCS than GRAMD2A and ESYT2/3 (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8VEF1-1; Sequence=Displayed; Name=2; IsoId=Q8VEF1-2; Sequence=VSP_025467; Name=3; IsoId=Q8VEF1-3; Sequence=VSP_025468; Highly expressed in the brain. GRAM domain binds phosphatidylserine in the PM and mediates protein recruitment to endoplasmic reticulum-plasma membrane contact sites (EPCS) in response to excess cholesterol in the PM. VASt (VAD1 Analog of StAR-related lipid transfer) domain, also known as ASTER (Greek for star) domain is a sterol-binding domain. [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Sequence=AAH18554.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAD32472.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence=; Sequence=BAE29255.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAE29372.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAE29897.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAE30853.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAE31103.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAE32853.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; endoplasmic reticulum endoplasmic reticulum membrane plasma membrane lipid transport lipid binding cholesterol binding sterol transport membrane integral component of membrane intrinsic component of endoplasmic reticulum membrane extrinsic component of cytoplasmic side of plasma membrane organelle membrane contact site cellular response to cholesterol uc009gif.1 uc009gif.2 uc009gif.3 
ENSMUST00000001304.9 Ckb ENSMUST00000001304.9 creatine kinase, brain (from RefSeq NM_021273.4) Ckb Ckbb ENSMUST00000001304.1 ENSMUST00000001304.2 ENSMUST00000001304.3 ENSMUST00000001304.4 ENSMUST00000001304.5 ENSMUST00000001304.6 ENSMUST00000001304.7 ENSMUST00000001304.8 KCRB_MOUSE NM_021273 Q04447 Q3KQP4 Q3TKI3 Q3U5P5 Q3UF71 Q9CXK6 uc007pdn.1 uc007pdn.2 uc007pdn.3 uc007pdn.4 Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate) (PubMed:33597756). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa (Probable). Acts as a key regulator of adaptive thermogenesis as part of the futile creatine cycle: localizes to the mitochondria of thermogenic fat cells and acts by mediating phosphorylation of creatine to initiate a futile cycle of creatine phosphorylation and dephosphorylation (PubMed:33597756). During the futile creatine cycle, creatine and N-phosphocreatine are in a futile cycle, which dissipates the high energy charge of N- phosphocreatine as heat without performing any mechanical or chemical work (PubMed:33597756). Reaction=ATP + creatine = ADP + H(+) + N-phosphocreatine; Xref=Rhea:RHEA:17157, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57947, ChEBI:CHEBI:58092, ChEBI:CHEBI:456216; EC=2.7.3.2; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:17158; Evidence=; Dimer of identical or non-identical chains, which can be either B (brain type) or M (muscle type). With MM being the major form in skeletal muscle and myocardium, MB existing in myocardium, and BB existing in many tissues, especially brain. Interacts with SLC12A6 (via C-terminus); the interaction may be required for SLC12A6 potassium- chloride cotransport activity (By similarity). Cytoplasm, cytosol Mitochondrion Cell membrane Note=Localizes to the mitochondria of thermogenic fat cells via the internal MTS-like signal (iMTS-L) region. Expressed in hippocampus and corpus callosum (at protein level). Strongly up-regulated in response to cold in fat cells; expression is dependent on cAMP. The internal MTS-like signal (iMTS-L) mediates targeting to mitochondria thermogenic fat cells. Conditional deletion in adipocytes leads to defective adaptive thermogenesis: defects are caused by abolition of the futile creatine cycle, thereby reducing whole-body energy expenditure and leading to predisposition to obesity. Belongs to the ATP:guanido phosphotransferase family. nucleotide binding catalytic activity creatine kinase activity protein binding ATP binding extracellular space nucleus cytoplasm mitochondrion cytosol brain development kinase activity phosphorylation transferase activity transferase activity, transferring phosphorus-containing groups cerebellum development dendrite cellular chloride ion homeostasis ubiquitin protein ligase binding neuronal cell body myelin sheath phosphocreatine biosynthetic process uc007pdn.1 uc007pdn.2 uc007pdn.3 uc007pdn.4 
ENSMUST00000001319.15 Efnb2 ENSMUST00000001319.15 ephrin B2, transcript variant 1 (from RefSeq NM_010111.6) ENSMUST00000001319.1 ENSMUST00000001319.10 ENSMUST00000001319.11 ENSMUST00000001319.12 ENSMUST00000001319.13 ENSMUST00000001319.14 ENSMUST00000001319.2 ENSMUST00000001319.3 ENSMUST00000001319.4 ENSMUST00000001319.5 ENSMUST00000001319.6 ENSMUST00000001319.7 ENSMUST00000001319.8 ENSMUST00000001319.9 Efnb2 NM_010111 Q4FJM3 Q4FJM3_MOUSE uc009kue.1 uc009kue.2 uc009kue.3 Membrane ; Single- pass type I membrane protein Belongs to the ephrin family. Lacks conserved residue(s) required for the propagation of feature annotation. cell migration involved in sprouting angiogenesis plasma membrane cell adhesion positive regulation of cell proliferation negative regulation of neuron projection development membrane integral component of membrane ephrin receptor binding ephrin receptor signaling pathway regulation of chemotaxis glutamatergic synapse presynapse assembly integral component of presynaptic membrane positive regulation of neuron death uc009kue.1 uc009kue.2 uc009kue.3 
ENSMUST00000001326.7 Sp1 ENSMUST00000001326.7 trans-acting transcription factor 1 (from RefSeq NM_013672.2) ENSMUST00000001326.1 ENSMUST00000001326.2 ENSMUST00000001326.3 ENSMUST00000001326.4 ENSMUST00000001326.5 ENSMUST00000001326.6 G3X8Q0 G3X8Q0_MOUSE NM_013672 Sp1 uc007xvo.1 uc007xvo.2 uc007xvo.3 Nucleus nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter protein C-terminus binding transcription factor binding positive regulation of gene expression transcriptional repressor complex cellular response to insulin stimulus protein-DNA complex histone acetyltransferase binding protein homodimerization activity histone deacetylase binding positive regulation of blood vessel endothelial cell migration sequence-specific DNA binding positive regulation by host of viral transcription transcription regulatory region DNA binding positive regulation of angiogenesis positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter repressing transcription factor binding HMG box domain binding positive regulation of hydrogen sulfide biosynthetic process positive regulation of vascular endothelial cell proliferation uc007xvo.1 uc007xvo.2 uc007xvo.3 
ENSMUST00000001327.11 Itgb7 ENSMUST00000001327.11 integrin beta 7 (from RefSeq NM_013566.2) ENSMUST00000001327.1 ENSMUST00000001327.10 ENSMUST00000001327.2 ENSMUST00000001327.3 ENSMUST00000001327.4 ENSMUST00000001327.5 ENSMUST00000001327.6 ENSMUST00000001327.7 ENSMUST00000001327.8 ENSMUST00000001327.9 ITB7_MOUSE NM_013566 P26011 Q3U2M1 Q64656 uc012aaa.1 uc012aaa.2 uc012aaa.3 Integrin ITGA4/ITGB7 (alpha-4/beta-7) (Peyer patches-specific homing receptor LPAM-1) is an adhesion molecule that mediates lymphocyte migration and homing to gut-associated lymphoid tissue (GALT). Integrin ITGA4/ITGB7 interacts with the cell surface adhesion molecules MADCAM1 which is normally expressed by the vascular endothelium of the gastrointestinal tract. Interacts also with VCAM1 and fibronectin, an extracellular matrix component. It recognizes one or more domains within the alternatively spliced CS-1 region of fibronectin. Interactions involve the tripeptide L-D-T in MADCAM1, and L-D-V in fibronectin. Integrin ITGAE/ITGB7 (alpha-E/beta-7, HML-1) is a receptor for E-cadherin. Heterodimer of an alpha and a beta subunit. ITGB7/beta-7 associates with either ITGA4/alpha-4 or ITGAE/alpha-E. Integrin ITGA4/ITGB7 interacts with MADCAM1. Integrin ITGA4/ITGB7 interacts with VCAM1 and fibronectin. Interacts with FLNA (via filamin repeats 4, 9, 12, 17, 19, 21, and 23). Cell membrane ; Single-pass type I membrane protein The VWFA domain (or beta I domain) contains three cation- binding sites: the ligand-associated metal ion-binding site (LIMBS or SyMBS), the metal ion-dependent adhesion site (MIDAS), and the adjacent MIDAS site (ADMIDAS). This domain is also part of the ligand-binding site. The MIDAS site is required for both rolling and adhesion. The ADMIDAS site is required for rolling and mediates the negative regulatory effects of higher Ca(2+) concentration on ligand binding. The LIMBS site is required for adhesion and mediates the positive regulatory effects of low Ca(2+) concentrations on ligand binding. Belongs to the integrin beta chain family. cell-matrix adhesion involved in ameboidal cell migration integrin binding cell adhesion cell-matrix adhesion integrin-mediated signaling pathway integrin complex cell surface membrane integral component of membrane cell migration cell adhesion mediated by integrin heterotypic cell-cell adhesion substrate adhesion-dependent cell spreading integrin alpha4-beta7 complex signaling receptor activity receptor clustering receptor complex cell adhesion molecule binding leukocyte migration leukocyte tethering or rolling T cell migration uc012aaa.1 uc012aaa.2 uc012aaa.3 
ENSMUST00000001339.6 Rrp15 ENSMUST00000001339.6 ribosomal RNA processing 15 homolog (from RefSeq NM_026041.2) ENSMUST00000001339.1 ENSMUST00000001339.2 ENSMUST00000001339.3 ENSMUST00000001339.4 ENSMUST00000001339.5 NM_026041 Q8BU28 Q922T8 Q9CWJ2 Q9CYX7 Q9D8W8 RRP15_MOUSE uc007dzq.1 uc007dzq.2 uc007dzq.3 uc007dzq.4 uc007dzq.5 This gene encodes a protein similar to budding yeast Rrp15p. Rrp15p is a component of pre-60S ribosomal particles in budding yeast, and is required for the early maturation steps of the 60S subunit. The mouse genome contains at least one pseudogene on the X chromosome. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AK169088.1, AK013204.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN01164131 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Citrullinated by PADI4. Belongs to the RRP15 family. molecular_function rRNA processing preribosome, large subunit precursor uc007dzq.1 uc007dzq.2 uc007dzq.3 uc007dzq.4 uc007dzq.5 
ENSMUST00000001347.7 Rnd2 ENSMUST00000001347.7 Rho family GTPase 2 (from RefSeq NM_009708.2) Arhn ENSMUST00000001347.1 ENSMUST00000001347.2 ENSMUST00000001347.3 ENSMUST00000001347.4 ENSMUST00000001347.5 ENSMUST00000001347.6 NM_009708 O35279 Q9QYM5 RND2_MOUSE Rho7 Rhon uc007lpb.1 uc007lpb.2 uc007lpb.3 May be specifically involved in neuronal and hepatic functions. Is a C3 toxin-insensitive member of the Rho subfamily (By similarity). Interacts with the Rho-GAP domain of RACGAP1. Interacts with UBXD5. Interacts with PRAG1 (By similarity). Cytoplasmic vesicle, secretory vesicle, acrosome membrane ; Lipid-anchor ; Cytoplasmic side Note=Colocalizes with RACGAP1 in Golgi-derived proacrosomal vesicles and the acrosome. Expressed specifically in neurons in the brain and spinal cord and also in hepatic stellate cells. Belongs to the small GTPase superfamily. Rho family. nucleotide binding acrosomal membrane GTPase activity protein binding GTP binding cytoplasm early endosome cell cortex actin filament organization small GTPase mediated signal transduction Rho protein signal transduction regulation of cell shape membrane protein kinase binding regulation of cell migration establishment or maintenance of actin cytoskeleton polarity cytoplasmic vesicle cell division site regulation of actin cytoskeleton organization intracellular membrane-bounded organelle protein N-terminus binding positive regulation of collateral sprouting actin filament bundle assembly plasma membrane uc007lpb.1 uc007lpb.2 uc007lpb.3 
ENSMUST00000001384.6 Cnn1 ENSMUST00000001384.6 calponin 1 (from RefSeq NM_009922.4) CNN1_MOUSE ENSMUST00000001384.1 ENSMUST00000001384.2 ENSMUST00000001384.3 ENSMUST00000001384.4 ENSMUST00000001384.5 NM_009922 Q08091 uc009onv.1 uc009onv.2 uc009onv.3 uc009onv.4 Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity. Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1. Event=Alternative splicing; Named isoforms=2; Name=Alpha; IsoId=Q08091-1; Sequence=Displayed; Name=Beta; IsoId=Q08091-2; Sequence=VSP_000755; Smooth muscle, and tissues containing significant amounts of smooth muscle. Belongs to the calponin family. actin binding calmodulin binding cytoskeleton actomyosin structure organization negative regulation of vascular smooth muscle cell proliferation uc009onv.1 uc009onv.2 uc009onv.3 uc009onv.4 
ENSMUST00000001412.17 Vps50 ENSMUST00000001412.17 VPS50 EARP/GARPII complex subunit, transcript variant 1 (from RefSeq NM_024260.5) Ccdc132 ENSMUST00000001412.1 ENSMUST00000001412.10 ENSMUST00000001412.11 ENSMUST00000001412.12 ENSMUST00000001412.13 ENSMUST00000001412.14 ENSMUST00000001412.15 ENSMUST00000001412.16 ENSMUST00000001412.2 ENSMUST00000001412.3 ENSMUST00000001412.4 ENSMUST00000001412.5 ENSMUST00000001412.6 ENSMUST00000001412.7 ENSMUST00000001412.8 ENSMUST00000001412.9 Kiaa1861 NM_024260 Q6ZPG9 Q7TSR5 Q80XR1 Q8C6D0 Q8C9I6 Q8CI71 Q99LN1 VPS50_MOUSE Vps50 uc009avc.1 uc009avc.2 uc009avc.3 uc009avc.4 Acts as a component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane. Within the EARP complex, required to tether the complex to recycling endosomes. Not involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). Component of the endosome-associated retrograde protein (EARP) complex, composed of VPS51, VPS52, VPS53 and VPS50/Syndetin (By similarity). The EARP complex interacts with EIPR1 (By similarity). Interacts with VPS51 and VPS53 in an EIPR1-independent manner (By similarity). Recycling endosome Membrane Note=Associates with membranes in an EIPR1-dependent manner. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8CI71-1; Sequence=Displayed; Name=2; IsoId=Q8CI71-2; Sequence=VSP_028661, VSP_028662; Name=3; IsoId=Q8CI71-3; Sequence=VSP_028660, VSP_028663; Belongs to the syndetin family. Sequence=AAH02304.1; Type=Erroneous initiation; Evidence=; Sequence=BAC98268.1; Type=Erroneous initiation; Evidence=; SNARE binding endosome cytosol protein transport endocytic recycling perinuclear region of cytoplasm recycling endosome EARP complex retrograde transport, endosome to Golgi uc009avc.1 uc009avc.2 uc009avc.3 uc009avc.4 
ENSMUST00000001415.9 Apbb3 ENSMUST00000001415.9 amyloid beta precursor protein binding family B member 3, transcript variant 1 (from RefSeq NM_146085.2) APBB3_MOUSE Apbb3 ENSMUST00000001415.1 ENSMUST00000001415.2 ENSMUST00000001415.3 ENSMUST00000001415.4 ENSMUST00000001415.5 ENSMUST00000001415.6 ENSMUST00000001415.7 ENSMUST00000001415.8 Fe65l2 NM_146085 Q8R1C9 uc033hgg.1 uc033hgg.2 uc033hgg.3 uc033hgg.4 May modulate the internalization of amyloid-beta precursor protein. Interacts with APP (via intracellular domain) (By similarity). Interacts with APLP1 and APLP2 (via intracellular domain) (By similarity). Cytoplasm Nucleus beta-amyloid binding nucleus cytoplasm cytosol regulation of transcription, DNA-templated transcription factor binding actin cytoskeleton negative regulation of apoptotic process uc033hgg.1 uc033hgg.2 uc033hgg.3 uc033hgg.4 
ENSMUST00000001416.8 Hars1 ENSMUST00000001416.8 histidyl-tRNA synthetase 1 (from RefSeq NM_008214.4) ENSMUST00000001416.1 ENSMUST00000001416.2 ENSMUST00000001416.3 ENSMUST00000001416.4 ENSMUST00000001416.5 ENSMUST00000001416.6 ENSMUST00000001416.7 HARS1_MOUSE Hars NM_008214 Q3TKU3 Q61035 uc008eop.1 uc008eop.2 uc008eop.3 uc008eop.4 uc008eop.5 Catalyzes the ATP-dependent ligation of histidine to the 3'- end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (His-AMP). Plays a role in axon guidance. Reaction=ATP + L-histidine + tRNA(His) = AMP + diphosphate + H(+) + L- histidyl-tRNA(His); Xref=Rhea:RHEA:17313, Rhea:RHEA-COMP:9665, Rhea:RHEA-COMP:9689, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57595, ChEBI:CHEBI:78442, ChEBI:CHEBI:78527, ChEBI:CHEBI:456215; EC=6.1.1.21; Evidence=; Homodimer. Cytoplasm Belongs to the class-II aminoacyl-tRNA synthetase family. nucleotide binding aminoacyl-tRNA ligase activity histidine-tRNA ligase activity ATP binding cytoplasm mitochondrion cytosol translation tRNA aminoacylation for protein translation histidyl-tRNA aminoacylation ligase activity mitochondrial translation identical protein binding uc008eop.1 uc008eop.2 uc008eop.3 uc008eop.4 uc008eop.5 
ENSMUST00000001419.10 Zmat2 ENSMUST00000001419.10 zinc finger, matrin type 2 (from RefSeq NM_025594.3) ENSMUST00000001419.1 ENSMUST00000001419.2 ENSMUST00000001419.3 ENSMUST00000001419.4 ENSMUST00000001419.5 ENSMUST00000001419.6 ENSMUST00000001419.7 ENSMUST00000001419.8 ENSMUST00000001419.9 NM_025594 Q5EBK0 Q9CPW7 ZMAT2_MOUSE uc008eos.1 uc008eos.2 uc008eos.3 Involved in pre-mRNA splicing as a component of the spliceosome. Component of the spliceosome B complex. Nucleus mRNA splicing, via spliceosome nucleic acid binding DNA binding nucleus spliceosomal complex mRNA processing zinc ion binding RNA splicing U4/U6 x U5 tri-snRNP complex metal ion binding U2-type precatalytic spliceosome uc008eos.1 uc008eos.2 uc008eos.3 
ENSMUST00000001451.11 Smg5 ENSMUST00000001451.11 SMG5 nonsense mediated mRNA decay factor (from RefSeq NM_178246.3) ENSMUST00000001451.1 ENSMUST00000001451.10 ENSMUST00000001451.2 ENSMUST00000001451.3 ENSMUST00000001451.4 ENSMUST00000001451.5 ENSMUST00000001451.6 ENSMUST00000001451.7 ENSMUST00000001451.8 ENSMUST00000001451.9 Est1b Kiaa1089 NM_178246 Q497S2 Q6ZPY2 Q8R3S4 SMG5_MOUSE Smg5 uc008put.1 uc008put.2 uc008put.3 Plays a role in nonsense-mediated mRNA decay. Does not have RNase activity by itself. Promotes dephosphorylation of UPF1. Together with SMG7 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation. Necessary for TERT activity (By similarity). Interacts with TERT, PPP2CA and SMG1. Part of a complex that contains SMG1, SMG5, SMG7, PPP2CA, a short isoform of UPF3A (isoform UPF3AS, but not isoform UPF3AL) and phosphorylated UPF1. Not detected in complexes that contain unphosphorylated UPF1. Cytoplasm Nucleus Note=Detected in cytoplasmic mRNA decay bodies. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6ZPY2-1; Sequence=Displayed; Name=2; IsoId=Q6ZPY2-2; Sequence=VSP_016590, VSP_016591; Sequence=BAC98096.1; Type=Erroneous initiation; Evidence=; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay nucleus telomerase holoenzyme complex cytoplasm telomere maintenance via telomerase ubiquitin protein ligase binding regulation of telomere maintenance regulation of telomere maintenance via telomerase regulation of dephosphorylation telomeric DNA binding histone deacetylase binding protein phosphatase 2A binding telomerase RNA binding uc008put.1 uc008put.2 uc008put.3 
ENSMUST00000001452.14 Cct3 ENSMUST00000001452.14 chaperonin containing TCP1 subunit 3 (from RefSeq NM_009836.1) Cct3 ENSMUST00000001452.1 ENSMUST00000001452.10 ENSMUST00000001452.11 ENSMUST00000001452.12 ENSMUST00000001452.13 ENSMUST00000001452.2 ENSMUST00000001452.3 ENSMUST00000001452.4 ENSMUST00000001452.5 ENSMUST00000001452.6 ENSMUST00000001452.7 ENSMUST00000001452.8 ENSMUST00000001452.9 NM_009836 Q3U4U6 Q3U4U6_MOUSE uc008puo.1 uc008puo.2 uc008puo.3 uc008puo.4 uc008puo.5 Cytoplasm Belongs to the TCP-1 chaperonin family. nucleotide binding ATP binding cytoplasm cytosol chaperonin-containing T-complex microtubule plasma membrane protein folding positive regulation of telomere maintenance via telomerase protein stabilization unfolded protein binding positive regulation of establishment of protein localization to telomere uc008puo.1 uc008puo.2 uc008puo.3 uc008puo.4 uc008puo.5 
ENSMUST00000001456.11 Tmem79 ENSMUST00000001456.11 Contributes to the epidermal integrity and skin barrier function. Plays a role in the lamellar granule (LG) secretory system and in the stratum corneum (SC) epithelial cell formation. (from UniProt Q9D709) AK009760 ENSMUST00000001456.1 ENSMUST00000001456.10 ENSMUST00000001456.2 ENSMUST00000001456.3 ENSMUST00000001456.4 ENSMUST00000001456.5 ENSMUST00000001456.6 ENSMUST00000001456.7 ENSMUST00000001456.8 ENSMUST00000001456.9 Matt Q9D709 TMM79_MOUSE uc008pur.1 uc008pur.2 uc008pur.3 Contributes to the epidermal integrity and skin barrier function. Plays a role in the lamellar granule (LG) secretory system and in the stratum corneum (SC) epithelial cell formation. Lysosome Golgi apparatus, trans-Golgi network Membrane ; Multi-pass membrane protein Note=Colocalized with TGOLN2 in the trans-Golgi network. Colocalized with LAMP1 in the lysosome. Expressed in the epidermis of the skin. Expressed in epithelial cells of the outermost layer of the stratum granulosum (SG) and in hair follicles (at protein level). Note=Defects in Tmem79 are the cause of the spontaneous matted (matt) mutant phenotype, a model for human atopic dermatitis. Atopic dermatitis (ma/ma) mice have a matted hair phenotype with progressive dermatitis-like skin inflammation and a scratching behavior. Mice display an altered skin barrier that facilitates allergic sensitization. epithelial cell maturation cytoplasm lysosome lysosomal membrane Golgi apparatus membrane integral component of membrane hair follicle morphogenesis trans-Golgi network membrane cuticle development identical protein binding regulated exocytosis positive regulation of epidermis development establishment of skin barrier cornification uc008pur.1 uc008pur.2 uc008pur.3 
ENSMUST00000001460.14 Snd1 ENSMUST00000001460.14 staphylococcal nuclease and tudor domain containing 1 (from RefSeq NM_019776.2) ENSMUST00000001460.1 ENSMUST00000001460.10 ENSMUST00000001460.11 ENSMUST00000001460.12 ENSMUST00000001460.13 ENSMUST00000001460.2 ENSMUST00000001460.3 ENSMUST00000001460.4 ENSMUST00000001460.5 ENSMUST00000001460.6 ENSMUST00000001460.7 ENSMUST00000001460.8 ENSMUST00000001460.9 NM_019776 Q3TT46 Q78PY7 Q922L5 Q9R0S1 SND1_MOUSE uc009bct.1 uc009bct.2 Endonuclease that mediates miRNA decay of both protein-free and AGO2-loaded miRNAs (By similarity). As part of its function in miRNA decay, regulates mRNAs involved in G1-to-S phase transition (By similarity). Functions as a bridging factor between STAT6 and the basal transcription factor (By similarity). Plays a role in PIM1 regulation of MYB activity (By similarity). Functions as a transcriptional coactivator for STAT5 (PubMed:12819296). Reaction=Endonucleolytic cleavage to nucleoside 3'-phosphates and 3'- phosphooligonucleotide end-products.; EC=3.1.31.1; Evidence=; Forms a ternary complex with STAT6 and POLR2A (By similarity). Associates with the RNA-induced silencing complex (RISC) (PubMed:24882364). Interacts with the RISC components AGO2, FMR1 and TNRC6A. Interacts with GTF2E1 and GTF2E2 (By similarity). Interacts with PIM1 (By similarity). Interacts with STAT5 (PubMed:12819296). Interacts with SYT11 (via C2 2 domain); the interaction with SYT11 is direct (PubMed:24882364). Q78PY7; Q80WJ7: Mtdh; NbExp=4; IntAct=EBI-529864, EBI-774530; Cytoplasm Nucleus Melanosome Note=In IL-4 stimulated cells colocalizes with STAT6 in the nucleus. Phosphorylated by PIM1 in vitro. Sequence=BAA84944.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; nucleic acid binding RNA binding nuclease activity endonuclease activity endoribonuclease activity protein binding nucleus cytoplasm mitochondrion cytosol RNA catabolic process regulation of cell cycle process miRNA catabolic process RISC complex hydrolase activity gene silencing by RNA melanosome nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic dense body RISC complex binding uc009bct.1 uc009bct.2 
ENSMUST00000001479.5 Kpnb1 ENSMUST00000001479.5 karyopherin subunit beta 1 (from RefSeq NM_008379.3) ENSMUST00000001479.1 ENSMUST00000001479.2 ENSMUST00000001479.3 ENSMUST00000001479.4 IMB1_MOUSE Impnb NM_008379 P70168 Q62117 Q6GTI5 uc007ldu.1 uc007ldu.2 uc007ldu.3 Functions in nuclear protein import, either in association with an adapter protein, like an importin-alpha subunit, which binds to nuclear localization signals (NLS) in cargo substrates, or by acting as autonomous nuclear transport receptor. Acting autonomously, serves itself as NLS receptor. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates autonomously the nuclear import of ribosomal proteins RPL23A, RPS7 and RPL5. In association with IPO7, mediates the nuclear import of H1 histone. In vitro, mediates nuclear import of H2A, H2B, H3 and H4 histones. Imports SNAI1 and PRKCI into the nucleus (By similarity). Forms a complex with an importin alpha subunit (By similarity). Interacts with XPO1 (By similarity). Forms a heterodimer with IPO7 (By similarity). The KPNB1/IPO7 heterodimer interacts with H1 histone (By similarity). Interacts with SNUPN (By similarity). Interacts with H2A, H2B, H3 and H4 histones (PubMed:11493596). Component of an import snRNP complex composed of KPNB1, SNUPN, SMN1 and ZNF259 (By similarity). Component of a nuclear export receptor complex composed of KPNB1, Ran, SNUPN and XPO1 (By similarity). Interacts with SRY (PubMed:11535586). Interacts with PRKCI/atypical protein kinase C iota (By similarity). Interacts with KPNA2 (By similarity). Interacts with KPNA7 (PubMed:20699224). Interacts with SNAI1 (via zinc fingers) and SNAI2 (via zinc fingers) (By similarity). Interacts with SLC35G1 and STIM1 (By similarity). Interacts with DCAF8 (By similarity). Interacts with RAN (PubMed:25946333). Interacts with NUMA1 (via C- terminus); this interaction is inhibited by RanGTP (By similarity). Interacts with ZBED1/hDREF; required for nuclear import of ZBED1/hDREF (By similarity). Interacts with SRP19 (By similarity). Interacts with RPL23A (via BIB domain), RPS7 and RPL5 (By similarity). Interacts with PARP16 (By similarity). P70168; P49790: NUP153; Xeno; NbExp=2; IntAct=EBI-540580, EBI-286779; Cytoplasm Nucleus envelope Mono-ADP-ribosylated by PARP16. Belongs to the importin beta family. Importin beta-1 subfamily. protein binding nucleus nuclear envelope nuclear pore nucleoplasm cytoplasm cytosol protein import into nucleus ribosomal protein import into nucleus intracellular protein transport mitotic chromosome movement towards spindle pole mitotic metaphase plate congression nuclear localization sequence binding Ran GTPase binding cytoplasmic stress granule protein transport kinesin binding enzyme binding protein domain specific binding astral microtubule organization Ran protein signal transduction nuclear membrane macromolecular complex establishment of mitotic spindle localization macromolecular complex binding establishment of protein localization Hsp90 protein binding nuclear import signal receptor activity importin-alpha family protein binding endoplasmic reticulum tubular network mitotic spindle assembly uc007ldu.1 uc007ldu.2 uc007ldu.3 
ENSMUST00000001480.14 Npepps ENSMUST00000001480.14 aminopeptidase puromycin sensitive (from RefSeq NM_008942.3) ENSMUST00000001480.1 ENSMUST00000001480.10 ENSMUST00000001480.11 ENSMUST00000001480.12 ENSMUST00000001480.13 ENSMUST00000001480.2 ENSMUST00000001480.3 ENSMUST00000001480.4 ENSMUST00000001480.5 ENSMUST00000001480.6 ENSMUST00000001480.7 ENSMUST00000001480.8 ENSMUST00000001480.9 NM_008942 PSA_MOUSE Psa Q11011 Q3UZE0 Q5PR74 Q91VJ8 uc007ldv.1 uc007ldv.2 uc007ldv.3 uc007ldv.4 uc007ldv.5 Aminopeptidase with broad substrate specificity for several peptides. Involved in proteolytic events essential for cell growth and viability. May act as regulator of neuropeptide activity. Plays a role in the antigen-processing pathway for MHC class I molecules. Involved in the N-terminal trimming of cytotoxic T-cell epitope precursors. Digests the poly-Q peptides found in many cellular proteins. Reaction=Release of an N-terminal amino acid, preferentially alanine, from a wide range of peptides, amides and arylamides.; EC=3.4.11.14; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Strongly inhibited by bestatin, leuhistin, actinonin, amastatin, 1,10-phenanthroline, DFP, PCMBS, Zn(2+), Cd(2+), Co(2+), Cu(2+), Hg(2+), EDTA and puromycin. Not inhibited by PMSF, and only slightly inhibited by leupeptin and aprotinin. Activity is increased by Mg(2+) and Ca(2+) (By similarity). Monomer. Cytoplasm, cytosol Nucleus Widely expressed. Highest expression in brain, particularly the striatum and hippocampus. Expressed in Sertoli cells. Mice exhibit dwarfism, increased anxiety, impaired pain responses and do not reproduce as well as wild-type mice. More MHC class I molecules are displayed on dendritic cell surfaces. Belongs to the peptidase M1 family. It is uncertain whether Met-1 or Met-46 is the initiator. aminopeptidase activity nucleus cytoplasm cytosol proteolysis peptidase activity metallopeptidase activity zinc ion binding hydrolase activity peptide binding peptide catabolic process metal ion binding metalloaminopeptidase activity cellular response to hypoxia uc007ldv.1 uc007ldv.2 uc007ldv.3 uc007ldv.4 uc007ldv.5 
ENSMUST00000001484.3 Tbx21 ENSMUST00000001484.3 T-box 21 (from RefSeq NM_019507.2) ENSMUST00000001484.1 ENSMUST00000001484.2 NM_019507 Q3U150 Q9JKD8 Q9R0A6 TBX21_MOUSE Tbet Tblym uc007ldr.1 uc007ldr.2 uc007ldr.3 uc007ldr.4 Lineage-defining transcription factor which initiates Th1 lineage development from naive Th precursor cells both by activating Th1 genetic programs and by repressing the opposing Th2 and Th17 genetic programs. Activates transcription of a set of genes important for Th1 cell function, including those encoding IFN-gamma and the chemokine receptor CXCR3. Activates IFNG and CXCR3 genes in part by recruiting chromatin remodeling complexes including KDM6B, a SMARCA4- containing SWI/SNF-complex, and an H3K4me2-methyltransferase complex to their promoters and all of these complexes serve to establish a more permissive chromatin state conducive with transcriptional activation (PubMed:10761931, PubMed:17923685, PubMed:21095589). Can activate Th1 genes also via recruitment of Mediator complex and P-TEFb (composed of CDK9 and CCNT1/cyclin-T1) in the form of the super elongation complex (SEC) to super-enhancers and associated genes in activated Th1 cells (PubMed:27292648). Inhibits the Th17 cell lineage commitment by blocking RUNX1-mediated transactivation of Th17 cell-specific transcriptinal regulator RORC (PubMed:21151104). Inhibits the Th2 cell lineage commitment by suppressing the production of Th2 cytokines, such as IL-4, IL-5, and IL- 13, via repression of transcriptional regulators GATA3 and NFATC2 (PubMed:15662016, PubMed:21690296, PubMed:23616576). Protects Th1 cells from amplifying aberrant type-I IFN response in an IFN-gamma abundant microenvironment by acting as a repressor of type-I IFN transcription factors and type-I IFN- stimulated genes (PubMed:28623086). Acts as a regulator of antiviral B-cell responses; controls chronic viral infection by promoting the antiviral antibody IgG2a isotype switching and via regulation of a broad antiviral gene expression program (PubMed:27430722). Interacts with RUNX1 and RUNX3 (PubMed:21151104). Interacts with ITK (PubMed:15662016). The phosphorylated form (at Tyr-525) interacts with GATA3 (PubMed:15662016, PubMed:21690296, PubMed:23616576). Interacts with ABL1 (PubMed:21690296). Interacts with RELA (PubMed:23616576). The phosphorylated form (at Thr-302) interacts with NFATC2 (PubMed:23616576). Interacts with KDM6B (PubMed:21095589). Interacts with SMARCA4 in a KDM6B-dependent manner (PubMed:21095589). Interacts with CCTN1 and CDK9 (PubMed:27292648). Interacts with USP10 (By similarity). Q9JKD8; P41183: Bcl6; NbExp=3; IntAct=EBI-3863870, EBI-6253762; Q9JKD8; Q03347: Runx1; NbExp=3; IntAct=EBI-3863870, EBI-3863873; Nucleus T-cell specific (PubMed:10761931, PubMed:11087660). Expressed in regulatory T (TReg) cells (PubMed:28607488). Induced during early Th1 cell differentiation, gradually decreasing at later stages. Phosphorylations at Ser-52, Tyr-76, Ser-224 and Ser-508 are regulated by mTORC1 (PubMed:28424242). Phosphorylation at Tyr-525 is essential for its interaction GATA3 (PubMed:15662016). Phosphorylation at Tyr-219, Tyr-265 and Tyr-304 enhances its transcriptional activator activity (PubMed:21690296). Phosphorylation at Thr-302 is required for its interaction with NFATC2 (PubMed:23616576). Ubiquitinated at Lys-313, leading to its degradation by the proteasome. Ubiquitination is essential for controlling protein stability, binding to the T-box-binding element of the IFN-gamma promoter, and for interaction with NFATC2 through induction of phosphorylation at Thr-302 (PubMed:23616576). Deubiquitinated by USP10 leading to its stabilization (By similarity). negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding cell fate specification heart looping DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated response to virus positive regulation of gene expression T cell differentiation negative regulation of interleukin-2 production neuronal cell body proteasome-mediated ubiquitin-dependent protein catabolic process sequence-specific DNA binding transcription regulatory region DNA binding regulation of T cell differentiation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of isotype switching to IgG isotypes regulation of immune response cellular response to organic substance lymphocyte migration negative regulation of T-helper 17 cell differentiation negative regulation of T-helper 17 cell lineage commitment negative regulation of T-helper 2 cell cytokine production uc007ldr.1 uc007ldr.2 uc007ldr.3 uc007ldr.4 
ENSMUST00000001485.10 Mrpl10 ENSMUST00000001485.10 mitochondrial ribosomal protein L10, transcript variant 1 (from RefSeq NM_026154.3) ENSMUST00000001485.1 ENSMUST00000001485.2 ENSMUST00000001485.3 ENSMUST00000001485.4 ENSMUST00000001485.5 ENSMUST00000001485.6 ENSMUST00000001485.7 ENSMUST00000001485.8 ENSMUST00000001485.9 NM_026154 Q3TBW2 Q9CQD2 RM10_MOUSE uc007ldm.1 uc007ldm.2 uc007ldm.3 Component of the mitochondrial ribosome large subunit (39S) which comprises a 16S rRNA and about 50 distinct proteins. Mitochondrion Belongs to the universal ribosomal protein uL10 family. structural constituent of ribosome nucleoplasm mitochondrion mitochondrial large ribosomal subunit ribosome translation large ribosomal subunit ribosome biogenesis ribonucleoprotein complex uc007ldm.1 uc007ldm.2 uc007ldm.3 
ENSMUST00000001497.9 Cideb ENSMUST00000001497.9 cell death-inducing DNA fragmentation factor, alpha subunit-like effector B (from RefSeq NM_009894.3) CIDEB_MOUSE Cideb ENSMUST00000001497.1 ENSMUST00000001497.2 ENSMUST00000001497.3 ENSMUST00000001497.4 ENSMUST00000001497.5 ENSMUST00000001497.6 ENSMUST00000001497.7 ENSMUST00000001497.8 NM_009894 O70303 Q91X39 uc007uap.1 uc007uap.2 uc007uap.3 uc007uap.4 uc007uap.5 Lipid transferase specifically expressed in hepatocytes, which promotes unilocular lipid droplet formation by mediating lipid droplet fusion (PubMed:26733203). Lipid droplet fusion promotes their enlargement, restricting lipolysis and favoring lipid storage (PubMed:26733203). Localizes on the lipid droplet surface, at focal contact sites between lipid droplets, and mediates atypical lipid droplet fusion by promoting directional net neutral lipid transfer from the smaller to larger lipid droplets (By similarity). The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair (By similarity). Promotes lipid exchange and lipid droplet fusion in both small and large lipid droplet- containing hepatocytes (PubMed:26733203). In addition to its role in lipid droplet fusion, also involved in cytoplasmic vesicle biogenesis and transport (PubMed:19187774, PubMed:23297397, PubMed:30858281). Required for very-low-density lipoprotein (VLDL) lipidation and maturation (PubMed:19187774, PubMed:23297397). Probably involved in the biogenesis of VLDL transport vesicles by forming a COPII vesicle coat and facilitating the formation of endoplasmic reticulum-derived large vesicles (PubMed:23297397). Also involved in sterol-regulated export of the SCAP-SREBP complex, composed of SCAP, SREBF1/SREBP1 and SREBF2/SREBP2, by promoting loading of SCAP-SREBP into COPII vesicles (PubMed:30858281). May also activate apoptosis (PubMed:9564035). Interacts with DFFA (By similarity). Interacts with DFFB; inhibited by DFFB (By similarity). Interacts with APOB (PubMed:19187774, PubMed:23297397). Interacts with PREB/SEC12; facilitating loading of SCAP-SREBP into COPII vesicles (PubMed:30858281). Lipid droplet doplasmic reticulum membrane ; Peripheral membrane protein ; Cytoplasmic side Golgi apparatus Cytoplasmic vesicle, COPI-coated vesicle Note=Enriched at lipid droplet contact sites. Highly enriched in the liver. Mice display lower levels of plasma triglycerides and free fatty acids and show smaller lipid droplets in hepatocytes (PubMed:17646209, PubMed:19187774). Mice are resistant to high-fat diet-induced obesity and are protected against hepatic steatosis (PubMed:17646209). Mice also show decreased very-low-density lipoprotein (VLDL)-triacylglycerol secretion and reduced VLDL size (PubMed:19187774). Belongs to the CIDE family. lipid particle cytosol apoptotic process positive regulation of cell death identical protein binding perinuclear region of cytoplasm positive regulation of release of cytochrome c from mitochondria execution phase of apoptosis activation of cysteine-type endopeptidase activity uc007uap.1 uc007uap.2 uc007uap.3 uc007uap.4 uc007uap.5 
ENSMUST00000001507.5 Cyp51 ENSMUST00000001507.5 cytochrome P450, family 51 (from RefSeq NM_020010.2) CP51A_MOUSE Cyp51a1 ENSMUST00000001507.1 ENSMUST00000001507.2 ENSMUST00000001507.3 ENSMUST00000001507.4 NM_020010 Q8BSQ7 Q8K0C4 Q9JIP8 Q9JIY3 uc008wie.1 uc008wie.2 uc008wie.3 Sterol 14alpha-demethylase that plays a critical role in the cholesterol biosynthesis pathway, being cholesterol the major sterol component in mammalian membranes as well as a precursor for bile acid and steroid hormone synthesis (PubMed:21705796). Cytochrome P450 monooxygenase that catalyzes the three-step oxidative removal of the 14alpha-methyl group (C-32) of sterols such as lanosterol (lanosta- 8,24-dien-3beta-ol) and 24,25-dihydrolanosterol (DHL) in the form of formate, and converts the sterols to 4,4-dimethyl-5alpha-cholesta- 8,14,24-trien-3beta-ol and 4,4-dimethyl-8,14-cholestadien-3beta-ol, respectively, which are intermediates of cholesterol biosynthesis (PubMed:21705796). Can also demethylate substrates not intrinsic to mammals, such as eburicol (24-methylene-24,25-dihydrolanosterol), but at a lower rate than DHL (By similarity). Reaction=a 14alpha-methyl steroid + 3 O2 + 3 reduced [NADPH-- hemoprotein reductase] = a Delta(14) steroid + formate + 4 H(+) + 4 H2O + 3 oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:54028, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:15740, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:138029, ChEBI:CHEBI:138031; EC=1.14.14.154; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:54029; Evidence=; Reaction=lanosterol + 3 O2 + 3 reduced [NADPH--hemoprotein reductase] = 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + formate + 4 H(+) + 4 H2O + 3 oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:25286, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:15740, ChEBI:CHEBI:16521, ChEBI:CHEBI:17813, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; EC=1.14.14.154; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:25287; Evidence=; Reaction=24,25-dihydrolanosterol + 3 O2 + 3 reduced [NADPH--hemoprotein reductase] = 4,4-dimethyl-8,14-cholestadien-3beta-ol + formate + 4 H(+) + 4 H2O + 3 oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:45960, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:15740, ChEBI:CHEBI:28113, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:78904; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45961; Evidence=; Reaction=a 14alpha-methyl steroid + O2 + reduced [NADPH--hemoprotein reductase] = a 14alpha-hydroxymethyl steroid + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:68060, Rhea:RHEA- COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:138029, ChEBI:CHEBI:176901; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:68061; Evidence=; Reaction=a 14alpha-hydroxymethyl steroid + O2 + reduced [NADPH-- hemoprotein reductase] = a 14alpha-formyl steroid + H(+) + 2 H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:68064, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:176901, ChEBI:CHEBI:176902; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:68065; Evidence=; Reaction=a 14alpha-formyl steroid + O2 + reduced [NADPH--hemoprotein reductase] = a Delta(14) steroid + formate + 2 H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:68068, Rhea:RHEA- COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:15740, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:138031, ChEBI:CHEBI:176902; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:68069; Evidence=; Reaction=lanosterol + O2 + reduced [NADPH--hemoprotein reductase] = 32- hydroxylanosterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:75103, Rhea:RHEA-COMP:11964, Rhea:RHEA- COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16521, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:166806; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:75104; Evidence=; Reaction=32-hydroxylanosterol + O2 + reduced [NADPH--hemoprotein reductase] = 32-oxolanosterol + H(+) + 2 H2O + oxidized [NADPH-- hemoprotein reductase]; Xref=Rhea:RHEA:75107, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:166681, ChEBI:CHEBI:166806; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:75108; Evidence=; Reaction=32-oxolanosterol + O2 + reduced [NADPH--hemoprotein reductase] = 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + formate + 2 H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:75111, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:15740, ChEBI:CHEBI:17813, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:166681; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:75112; Evidence=; Reaction=24,25-dihydrolanosterol + O2 + reduced [NADPH--hemoprotein reductase] = 32-hydroxy-24,25-dihydrolanosterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:75079, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:28113, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:87057; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:75080; Evidence=; Reaction=32-hydroxy-24,25-dihydrolanosterol + O2 + reduced [NADPH-- hemoprotein reductase] = 32-oxo-24,25-dihydrolanosterol + H(+) + 2 H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:75087, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:87057, ChEBI:CHEBI:87060; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:75088; Evidence=; Reaction=32-oxo-24,25-dihydrolanosterol + O2 + reduced [NADPH-- hemoprotein reductase] = 4,4-dimethyl-8,14-cholestadien-3beta-ol + formate + 2 H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:75083, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:15740, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:78904, ChEBI:CHEBI:87060; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:75084; Evidence=; Name=heme; Xref=ChEBI:CHEBI:30413; Evidence=; Inhibited by azalanstat. Inhibited by azole antifungal agents ketoconazole, itraconazole and fluconazole. Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 1/6. Endoplasmic reticulum membrane ; Single-pass membrane protein Microsome membrane ; Single-pass membrane protein Embryonic lethality at 15 dpc, likely due to heart failure. Mutant mice present complete block of de novo cholesterol synthesis at 14.5 dpc. Heart abnormalities include hypoplasia combined with ventricle septum and epicardial and vasculogenesis defects. Skeletal abnormalities include facial hypoplasia, brachycephaly, and bowed and jointed bones of the extremities with camptodactyly. Can serve as an animal model for studying Antley-Bixler syndrome. Belongs to the cytochrome P450 family. Sequence=AAF73986.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; monooxygenase activity iron ion binding endoplasmic reticulum endoplasmic reticulum membrane plasma membrane lipid metabolic process steroid biosynthetic process cholesterol biosynthetic process steroid metabolic process cholesterol metabolic process sterol 14-demethylase activity membrane integral component of membrane sterol metabolic process sterol biosynthetic process oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen heme binding organelle membrane cholesterol biosynthetic process via 24,25-dihydrolanosterol negative regulation of protein catabolic process intracellular membrane-bounded organelle metal ion binding negative regulation of protein secretion oxidation-reduction process demethylation negative regulation of beta-amyloid clearance uc008wie.1 uc008wie.2 uc008wie.3 
ENSMUST00000001513.8 Tubb6 ENSMUST00000001513.8 tubulin, beta 6 class V (from RefSeq NM_026473.2) ENSMUST00000001513.1 ENSMUST00000001513.2 ENSMUST00000001513.3 ENSMUST00000001513.4 ENSMUST00000001513.5 ENSMUST00000001513.6 ENSMUST00000001513.7 NM_026473 Q922F4 TBB6_MOUSE uc008fmd.1 uc008fmd.2 uc008fmd.3 uc008fmd.4 Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Cytoplasm, cytoskeleton The highly acidic C-terminal region may bind cations such as calcium. The MREI motif is common among all beta-tubulin isoforms and may be critical for tubulin autoregulation. Some glutamate residues at the C-terminus are polyglycylated, resulting in polyglycine chains on the gamma-carboxyl group. Glycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering polyglycylation levels increases polyglutamylation, and reciprocally. Cilia and flagella glycylation is required for their stability and maintenance. Flagella glycylation controls sperm motility (PubMed:33414192). Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:15890843). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (By similarity). Glutamylation is also involved in cilia motility (PubMed:23897886). Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules. Belongs to the tubulin family. nucleotide binding microtubule cytoskeleton organization mitotic cell cycle GTPase activity structural constituent of cytoskeleton GTP binding cytoplasm cytoskeleton microtubule microtubule-based process uc008fmd.1 uc008fmd.2 uc008fmd.3 uc008fmd.4 
ENSMUST00000001520.13 Afg3l1 ENSMUST00000001520.13 AFG3-like AAA ATPase 1, transcript variant 1 (from RefSeq NM_054070.3) AFG31_MOUSE ENSMUST00000001520.1 ENSMUST00000001520.10 ENSMUST00000001520.11 ENSMUST00000001520.12 ENSMUST00000001520.2 ENSMUST00000001520.3 ENSMUST00000001520.4 ENSMUST00000001520.5 ENSMUST00000001520.6 ENSMUST00000001520.7 ENSMUST00000001520.8 ENSMUST00000001520.9 NM_054070 Q3THK2 Q6PGJ7 Q920A7 Q9CZN2 uc009nwd.1 uc009nwd.2 uc009nwd.3 uc009nwd.4 Putative ATP-dependent protease. Required for the maturation of paraplegin (SPG7) after its cleavage by mitochondrial-processing peptidase (MPP), converting it into a proteolytically active mature form. Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Homooligomer (PubMed:17101804). Forms heterooligomers with SPG7 and AFG3L2 (PubMed:17101804, PubMed:19656850). Interacts with SPG7 and AFG3L2 (PubMed:19656850). Mitochondrion inner membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q920A7-1; Sequence=Displayed; Name=2; IsoId=Q920A7-2; Sequence=VSP_031809, VSP_031810; In the N-terminal section; belongs to the AAA ATPase family. In the C-terminal section; belongs to the peptidase M41 family. The orthologous human gene is a pseudogene. Sequence=AAK66971.1; Type=Erroneous initiation; Evidence=; Sequence=BAB28211.3; Type=Frameshift; Evidence=; nucleotide binding metalloendopeptidase activity protein binding ATP binding mitochondrion mitochondrial inner membrane m-AAA complex proteolysis mitochondrion organization mitochondrial fusion peptidase activity metallopeptidase activity zinc ion binding membrane integral component of membrane protein processing hydrolase activity mitochondrial protein processing cristae formation metal ion binding uc009nwd.1 uc009nwd.2 uc009nwd.3 uc009nwd.4 
ENSMUST00000001534.7 Sost ENSMUST00000001534.7 sclerostin (from RefSeq NM_024449.6) B2RQA5 ENSMUST00000001534.1 ENSMUST00000001534.2 ENSMUST00000001534.3 ENSMUST00000001534.4 ENSMUST00000001534.5 ENSMUST00000001534.6 NM_024449 Q99P68 Q9D3L7 SOST_MOUSE Sost uc011yfn.1 uc011yfn.2 Negative regulator of bone growth that acts through inhibition of Wnt signaling and bone formation. Interacts with LRP4 (via the extracellular domain); the interaction facilitates the inhibition of Wnt signaling. Interacts with LRP5 (via the first two YWTD-EGF repeat domains); the interaction inhibits Wnt-mediated signaling. Interacts with LRP6. Secreted, extracellular space, extracellular matrix Mice were resistant to mechanical unloading- induced bone loss. Belongs to the sclerostin family. ossification protein binding extracellular region extracellular space Golgi apparatus transcription factor binding heparin binding Wnt signaling pathway negative regulation of Wnt signaling pathway negative regulation of ossification negative regulation of BMP signaling pathway negative regulation of protein complex assembly macromolecular complex positive regulation of transcription, DNA-templated cellular response to parathyroid hormone stimulus negative regulation of canonical Wnt signaling pathway uc011yfn.1 uc011yfn.2 
ENSMUST00000001536.9 Nkx2-1 ENSMUST00000001536.9 NK2 homeobox 1, transcript variant 1 (from RefSeq NM_009385.4) ENSMUST00000001536.1 ENSMUST00000001536.2 ENSMUST00000001536.3 ENSMUST00000001536.4 ENSMUST00000001536.5 ENSMUST00000001536.6 ENSMUST00000001536.7 ENSMUST00000001536.8 NKX21_MOUSE NM_009385 Nkx-2.1 Nkx2-1 P50220 Titf1 Ttf1 uc007npg.1 uc007npg.2 uc007npg.3 uc007npg.4 uc007npg.5 Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation (PubMed:22955271). Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene expression. Represses the transcription of the circadian transcriptional repressor NR1D1 (PubMed:22356123). Interacts with WWTR1. Nucleus Thyroid, lung and brain. Expressed in lung at least from to 9.5 dpc to adulthood. Phosphorylated on serine residues by STK3/MST2. Belongs to the NK-2 homeobox family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II regulatory region DNA binding core promoter binding intronic transcription regulatory region sequence-specific DNA binding neuron migration regulation of blood volume by renin-angiotensin DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter phospholipid metabolic process pattern specification process axon guidance brain development endoderm development locomotory behavior feeding behavior transcription factor binding response to hormone animal organ morphogenesis positive regulation of gene expression negative regulation of epithelial to mesenchymal transition TBP-class protein binding enzyme binding telencephalon development globus pallidus development hippocampus development cerebral cortex cell migration forebrain dorsal/ventral pattern formation forebrain neuron fate commitment forebrain neuron differentiation cerebral cortex GABAergic interneuron differentiation cerebral cortex neuron differentiation pituitary gland development telencephalon cell migration cell differentiation lung development negative regulation of cell migration negative regulation of transforming growth factor beta receptor signaling pathway thyroid gland development forebrain development developmental induction response to lipopolysaccharide Leydig cell differentiation hyperosmotic salinity response positive regulation of circadian rhythm protein homodimerization activity sequence-specific DNA binding transcription regulatory region DNA binding intronic transcription regulatory region DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter rhythmic process anatomical structure formation involved in morphogenesis neuron fate commitment oligodendrocyte differentiation lung saccule development epithelial tube branching involved in lung morphogenesis Clara cell differentiation Type II pneumocyte differentiation uc007npg.1 uc007npg.2 uc007npg.3 uc007npg.4 uc007npg.5 
ENSMUST00000001544.12 Vwa5a ENSMUST00000001544.12 von Willebrand factor A domain containing 5A, transcript variant 1 (from RefSeq NM_172767.3) ENSMUST00000001544.1 ENSMUST00000001544.10 ENSMUST00000001544.11 ENSMUST00000001544.2 ENSMUST00000001544.3 ENSMUST00000001544.4 ENSMUST00000001544.5 ENSMUST00000001544.6 ENSMUST00000001544.7 ENSMUST00000001544.8 ENSMUST00000001544.9 Loh11cr2a NM_172767 Q3TTU2 Q3UVU1 Q3V3F2 Q6UN22 Q8BHA8 Q99KC8 Q9CTV9 VMA5A_MOUSE uc012grc.1 uc012grc.2 May play a role in tumorigenesis as a tumor suppressor. Altered expression of this protein and disruption of the molecular pathway it is involved in may contribute directly to or modify tumorigenesis (By similarity). extracellular matrix structural constituent nucleus nucleoplasm biological_process uc012grc.1 uc012grc.2 
ENSMUST00000001547.8 Col1a1 ENSMUST00000001547.8 collagen, type I, alpha 1 (from RefSeq NM_007742.4) CO1A1_MOUSE Col1a1 Cola1 ENSMUST00000001547.1 ENSMUST00000001547.2 ENSMUST00000001547.3 ENSMUST00000001547.4 ENSMUST00000001547.5 ENSMUST00000001547.6 ENSMUST00000001547.7 NM_007742 P11087 Q53WT0 Q60635 Q61367 Q61427 Q63919 Q6PCL3 Q810J9 uc007kzn.1 uc007kzn.2 uc007kzn.3 This gene encodes the alpha-1 subunit of the fibril-forming type I collagen, the most abundant protein of bone, skin and tendon extracellular matrices. The encoded protein, in association with alpha-2 subunit, forms heterotrimeric type I procollagen that undergoes proteolytic processing during fibril formation. Mice lacking the encoded protein die in utero caused by the rupture of a major blood vessel. Transgenic mice expressing significantly lower levels of this gene exhibit morphological and functional defects in mineralized and non-mineralized connective tissue and, progressive loss of hearing. [provided by RefSeq, Nov 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK159285.1, BC050014.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Type I collagen is a member of group I collagen (fibrillar forming collagen). Trimers of one alpha 2(I) and two alpha 1(I) chains. Interacts with MRC2. Interacts with TRAM2. Interacts with MFAP4 in a Ca (2+)- dependent manner. Secreted, extracellular space, extracellular matrix Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11087-1; Sequence=Displayed; Name=2; IsoId=P11087-2; Sequence=VSP_016548; Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite. Expressed in early bell stage dental mesenchymal cells at 15.5 dpc (at protein level) (PubMed:24028588). Expressed in bell stage dental mesenchymal cells at 17.5 dpc (PubMed:29148101). The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function (By similarity). Contains mostly 4-hydroxyproline. Proline residues at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. Contains 3-hydroxyproline at a few sites. This modification occurs on the first proline residue in the sequence motif Gly-Pro-Hyp, where Hyp is 4-hydroxyproline. Lysine residues at the third position of the tripeptide repeating unit (G-X-Y) are 5-hydroxylated in some or all of the chains. O-glycosylated on hydroxylated lysine residues. The O-linked glycan consists of a Glc-Gal disaccharide. Belongs to the fibrillar collagen family. Sequence=CAA38657.1; Type=Erroneous gene model prediction; Evidence=; skeletal system development ossification blood vessel development osteoblast differentiation intramembranous ossification endochondral ossification protease binding extracellular matrix structural constituent protein binding extracellular region collagen trimer collagen type I trimer extracellular space cytoplasm endoplasmic reticulum Golgi apparatus response to nutrient visual perception sensory perception of sound response to mechanical stimulus positive regulation of epithelial to mesenchymal transition negative regulation of cell-substrate adhesion protein transport extracellular matrix structural constituent conferring tensile strength secretory granule extracellular matrix organization collagen fibril organization positive regulation of cell migration extracellular matrix response to nutrient levels response to corticosteroid response to estradiol collagen biosynthetic process protein localization to nucleus tooth mineralization collagen-activated tyrosine kinase receptor signaling pathway wound healing response to drug response to hydrogen peroxide identical protein binding response to peptide hormone skin development skin morphogenesis cellular response to fibroblast growth factor stimulus tooth eruption positive regulation of transcription, DNA-templated metal ion binding platelet-derived growth factor binding response to steroid hormone skeletal system morphogenesis embryonic skeletal system development response to cAMP response to hyperoxia face morphogenesis bone trabecula formation cartilage development involved in endochondral bone morphogenesis cellular response to amino acid stimulus cellular response to mechanical stimulus cellular response to retinoic acid cellular response to vitamin E cellular response to tumor necrosis factor cellular response to epidermal growth factor stimulus cellular response to transforming growth factor beta stimulus positive regulation of canonical Wnt signaling pathway response to fluoride cellular response to fluoride uc007kzn.1 uc007kzn.2 uc007kzn.3 
ENSMUST00000001548.14 Itga3 ENSMUST00000001548.14 integrin alpha 3, transcript variant 1 (from RefSeq NM_013565.3) ENSMUST00000001548.1 ENSMUST00000001548.10 ENSMUST00000001548.11 ENSMUST00000001548.12 ENSMUST00000001548.13 ENSMUST00000001548.2 ENSMUST00000001548.3 ENSMUST00000001548.4 ENSMUST00000001548.5 ENSMUST00000001548.6 ENSMUST00000001548.7 ENSMUST00000001548.8 ENSMUST00000001548.9 ITA3_MOUSE NM_013565 Q08441 Q08442 Q5SWA8 Q5SWB9 Q62470 Q6P6I1 uc007kzw.1 uc007kzw.2 uc007kzw.3 uc007kzw.4 This gene encodes a subunit of integrin family of cell surface proteins. The encoded protein undergoes post-translational processing to form a disulfide bond-linked dimer comprised of heavy and light chains. At the cell surface, the encoded protein non-covalently associates with the integrin beta-1 subunit to form a heterodimer that interacts with many extracellular matrix proteins including fibronectin and laminin. Mice lacking the encoded protein die during the first day after birth due to severe abnormalities in kidneys. Mice lacking the encoded protein specifically in the basal layer of epidermis display several skin defects and accelerated wound healing. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]. Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Integrin alpha- 3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration. Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chain linked by a disulfide bond. Alpha-3 associates with beta-1. Interacts with HPS5. Interacts with FAP (seprase); the interaction occurs at the cell surface of invadopodia membrane in a collagen-dependent manner. Q62470; O35566: Cd151; NbExp=2; IntAct=EBI-8398907, EBI-8369654; Q62470; P28828: Ptprm; NbExp=3; IntAct=EBI-8398907, EBI-8539266; Cell membrane; Single-pass type I membrane protein. Cell membrane ; Lipid-anchor Cell projection, invadopodium membrane ; Single-pass type I membrane protein Cell projection, filopodium membrane ; Single-pass type I membrane protein Note=Enriched preferentially at invadopodia, cell membrane protrusions that correspond to sites of cell invasion, in a collagen-dependent manner. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=Alpha-3A; IsoId=Q62470-1; Sequence=Displayed; Name=2; Synonyms=Alpha-3B; IsoId=Q62470-2; Sequence=VSP_002722; Name=3; IsoId=Q62470-3; Sequence=VSP_041797; Isoform 1 and isoform 2 are expressed in heart and brain. Only isoform 1 is detected in lung. Belongs to the integrin alpha chain family. neuron migration fibronectin binding protease binding integrin binding protein binding collagen binding plasma membrane cell adhesion integrin-mediated signaling pathway heart development memory integrin complex external side of plasma membrane cell surface positive regulation of gene expression positive regulation of epithelial cell migration positive regulation of cell-substrate adhesion positive regulation of neuron projection development membrane integral component of membrane basolateral plasma membrane regulation of transforming growth factor beta receptor signaling pathway protein domain specific binding cell junction regulation of Wnt signaling pathway lung development growth cone regulation of BMP signaling pathway negative regulation of cell projection organization filopodium membrane integrin alpha3-beta1 complex response to gonadotropin negative regulation of Rho protein signal transduction exploration behavior response to drug cell projection receptor complex laminin binding skin development synapse protein heterodimerization activity mesodermal cell differentiation perinuclear region of cytoplasm excitatory synapse maternal process involved in female pregnancy invadopodium membrane cell periphery nephron development synaptic membrane dendritic spine maintenance renal filtration positive regulation of protein localization to plasma membrane growth cone filopodium fusion of sperm to egg plasma membrane uc007kzw.1 uc007kzw.2 uc007kzw.3 uc007kzw.4 
ENSMUST00000001559.11 Itfg2 ENSMUST00000001559.11 integrin alpha FG-GAP repeat containing 2 (from RefSeq NM_133927.1) ENSMUST00000001559.1 ENSMUST00000001559.10 ENSMUST00000001559.2 ENSMUST00000001559.3 ENSMUST00000001559.4 ENSMUST00000001559.5 ENSMUST00000001559.6 ENSMUST00000001559.7 ENSMUST00000001559.8 ENSMUST00000001559.9 ITFG2_MOUSE Itfg2 NM_133927 Q3UYJ5 Q8R148 Q91WI7 uc009edo.1 uc009edo.2 uc009edo.3 As part of the KICSTOR complex functions in the amino acid- sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the RAG GTPases. Functions upstream of the RAG GTPases and is required to negatively regulate mTORC1 signaling in absence of amino acids. In absence of the KICSTOR complex mTORC1 is constitutively localized to the lysosome and activated. The KICSTOR complex is also probably involved in the regulation of mTORC1 by glucose. Part of the KICSTOR complex composed of KPTN, ITFG2, KICS2 and SZT2. SZT2 probably serves as a link between the other three proteins in the KICSTOR complex and may mediate the direct interaction with the GATOR complex via GATOR1. The KICSTOR complex interacts directly with the GATOR1 complex and most probably indirectly with the GATOR2 complex in an amino acid-independent manner. Lysosome membrane Note=Localization to lysosomes is amino acid-independent. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q91WI7-1; Sequence=Displayed; Name=2; IsoId=Q91WI7-2; Sequence=VSP_026003; germinal center B cell differentiation molecular_function nucleoplasm lysosome lysosomal membrane cytosol membrane cellular response to amino acid starvation cellular response to glucose starvation negative regulation of TORC1 signaling uc009edo.1 uc009edo.2 uc009edo.3 
ENSMUST00000001561.12 Nrip2 ENSMUST00000001561.12 nuclear receptor interacting protein 2, transcript variant 2 (from RefSeq NM_021717.3) ENSMUST00000001561.1 ENSMUST00000001561.10 ENSMUST00000001561.11 ENSMUST00000001561.2 ENSMUST00000001561.3 ENSMUST00000001561.4 ENSMUST00000001561.5 ENSMUST00000001561.6 ENSMUST00000001561.7 ENSMUST00000001561.8 ENSMUST00000001561.9 NM_021717 NRIP2_MOUSE Nix1 Q14BZ2 Q3U0V7 Q3UYH0 Q9JHR9 uc009edn.1 uc009edn.2 uc009edn.3 uc009edn.4 Down-regulates transcriptional activation by nuclear receptors, such as NR1F2. Interacts with NR1F2, RARA and THRB in a ligand-dependent manner. Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9JHR9-1; Sequence=Displayed; Name=2; IsoId=Q9JHR9-2; Sequence=VSP_022275; Expression is restricted to the central nervous system (neurons in the dentate gyrus of the hippocampus, the amygdala, thalamic and hypothalamic regions). Sequence=BAE22242.1; Type=Frameshift; Evidence=; negative regulation of transcription from RNA polymerase II promoter aspartic-type endopeptidase activity protein binding nucleus cytoplasm proteolysis Notch signaling pathway uc009edn.1 uc009edn.2 uc009edn.3 uc009edn.4 
ENSMUST00000001562.9 Tulp3 ENSMUST00000001562.9 TUB like protein 3 (from RefSeq NM_011657.2) ENSMUST00000001562.1 ENSMUST00000001562.2 ENSMUST00000001562.3 ENSMUST00000001562.4 ENSMUST00000001562.5 ENSMUST00000001562.6 ENSMUST00000001562.7 ENSMUST00000001562.8 NM_011657 O88413 TULP3_MOUSE Tulp3 uc009edh.1 uc009edh.2 Negative regulator of the Shh signaling transduction pathway: recruited to primary cilia via association with the IFT complex A (IFT- A) and is required for recruitment of G protein-coupled receptor GPR161 to cilia, a promoter of PKA-dependent basal repression machinery in Shh signaling. Binds to phosphorylated inositide (phosphoinositide) lipids. Both IFT-A- and phosphoinositide-binding properties are required to regulate ciliary G protein-coupled receptor trafficking. During adipogenesis, regulates ciliary trafficking of FFAR4 in preadipocytes. Associates with the IFT complex A (IFT-A) (By similarity). Interacts with SIRT1 (By similarity). Nucleus. Cell membrane. Cell projection, cilium. Cytoplasm. Secreted. Note=Translocates from the plasma membrane to the nucleus upon activation of guanine nucleotide-binding protein G(q) subunit alpha (By similarity). Does not have a cleavable signal peptide and is secreted by a non-conventional pathway. Widely expressed including eyes and adipose depots. Ubiquitously expressed during development. Failure of neural tube closure and death by embryonic day 14.5. Failure of cranial neural tube closure coincident with increased neuroepithelial apoptosis specifically in the hindbrain and the caudal neural tube. In addition, the number of tubulin beta-3 positive cells is significantly decreased in the embryonic hindbrain. Morphological defects in the embryonic craniofacial regions, the spinal neural tube and the limbs. Belongs to the TUB family. G-protein coupled receptor binding neural tube formation neural tube closure extracellular region nucleus nucleolus cytoplasm plasma membrane cilium axoneme multicellular organism development brain development regulation of G-protein coupled receptor protein signaling pathway regulation of smoothened signaling pathway anterior/posterior pattern specification membrane enzyme binding dorsal/ventral neural tube patterning negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning neural tube development central nervous system neuron differentiation embryonic camera-type eye development phosphatidylinositol binding embryonic digit morphogenesis cell projection macromolecular complex binding negative regulation of smoothened signaling pathway embryonic neurocranium morphogenesis limb development bone development bronchus morphogenesis smoothened signaling pathway involved in dorsal/ventral neural tube patterning protein localization to cilium ganglion development ciliary base 9+0 non-motile cilium negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning uc009edh.1 uc009edh.2 
ENSMUST00000001565.15 Gtf2h4 ENSMUST00000001565.15 general transcription factor II H, polypeptide 4, transcript variant 9 (from RefSeq NR_182136.1) ENSMUST00000001565.1 ENSMUST00000001565.10 ENSMUST00000001565.11 ENSMUST00000001565.12 ENSMUST00000001565.13 ENSMUST00000001565.14 ENSMUST00000001565.2 ENSMUST00000001565.3 ENSMUST00000001565.4 ENSMUST00000001565.5 ENSMUST00000001565.6 ENSMUST00000001565.7 ENSMUST00000001565.8 ENSMUST00000001565.9 Gtf2h4 NR_182136 Q542U3 Q542U3_MOUSE uc008cig.1 uc008cig.2 uc008cig.3 uc008cig.4 Component of the general transcription and DNA repair factor IIH (TFIIH) core complex which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA. Nucleus Belongs to the TFB2 family. core TFIIH complex portion of holo TFIIH complex core TFIIH complex ATPase activator activity protein kinase activity nucleus transcription factor TFIID complex holo TFIIH complex DNA repair nucleotide-excision repair transcription from RNA polymerase II promoter protein phosphorylation cellular response to DNA damage stimulus DNA-dependent ATPase activity RNA polymerase II carboxy-terminal domain kinase activity obsolete general RNA polymerase II transcription factor activity nuclear speck positive regulation of ATPase activity uc008cig.1 uc008cig.2 uc008cig.3 uc008cig.4 
ENSMUST00000001566.10 Tubb5 ENSMUST00000001566.10 tubulin, beta 5 class I (from RefSeq NM_011655.5) B1B178 ENSMUST00000001566.1 ENSMUST00000001566.2 ENSMUST00000001566.3 ENSMUST00000001566.4 ENSMUST00000001566.5 ENSMUST00000001566.6 ENSMUST00000001566.7 ENSMUST00000001566.8 ENSMUST00000001566.9 NM_011655 P05218 P99024 Q3TFB6 Q3THH9 Q3TIL1 Q3UAV4 Q3UF52 Q8WUC1 Q9CY33 TBB5_MOUSE uc008ciq.1 uc008ciq.2 uc008ciq.3 uc008ciq.4 Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Heterodimer of alpha and beta chains (By similarity). A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Interacts with CIMAP3 (PubMed:20643351). Interacts with DIAPH1 (By similarity). Interacts with MX1 (By similarity). May interact with RNABP10 (PubMed:18347012). Interacts with CFAP157 (PubMed:27965440). Nascent tubulin polypeptide interacts (via beta-tubulin MREI motif) with TTC5/STRAP; this interaction results in tubulin mRNA-targeted degradation (By similarity). Cytoplasm, cytoskeleton Ubiquitously expressed with highest levels in spleen, thymus and immature brain. Expressed in embryonic brain, including throughout the developing cortex and in the subventricular zone. Also found in radial glial cells, intermediate progenitors, migrating neurons and postmitotic neurons (PubMed:23246003). Expressed in skin and developing hair follicle (PubMed:26637975). The MREI motif is common among all beta-tubulin isoforms and may be critical for tubulin autoregulation. Some glutamate residues at the C-terminus are polyglycylated, resulting in polyglycine chains on the gamma-carboxyl group. Glycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering polyglycylation levels increases polyglutamylation, and reciprocally. Cilia and flagella glycylation is required for their stability and maintenance. Flagella glycylation controls sperm motility (PubMed:33414192). Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:15890843). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (By similarity). Glutamylation is also involved in cilia motility (PubMed:23897886). Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules. Results in a perturbation of the cell cycle of neurogenic progenitors as well as an alteration in the position of migrating neurons. There is a decrease in neurons in the cortical plate and an accumulation of cells within the ventricular and intermediate zones. Belongs to the tubulin family. nucleotide binding microtubule cytoskeleton organization mitotic cell cycle GTPase activity structural constituent of cytoskeleton GTP binding nucleus nuclear envelope lumen cytoplasm cytosol cytoskeleton microtubule microtubule-based process cellular process protein domain specific binding ubiquitin protein ligase binding GTPase activating protein binding macromolecular complex cytoplasmic ribonucleoprotein granule MHC class I protein binding cell body macromolecular complex binding membrane raft tubulin complex regulation of synapse organization spindle assembly uc008ciq.1 uc008ciq.2 uc008ciq.3 uc008ciq.4 
ENSMUST00000001569.15 Flot1 ENSMUST00000001569.15 flotillin 1, transcript variant 15 (from RefSeq NR_176952.1) ENSMUST00000001569.1 ENSMUST00000001569.10 ENSMUST00000001569.11 ENSMUST00000001569.12 ENSMUST00000001569.13 ENSMUST00000001569.14 ENSMUST00000001569.2 ENSMUST00000001569.3 ENSMUST00000001569.4 ENSMUST00000001569.5 ENSMUST00000001569.6 ENSMUST00000001569.7 ENSMUST00000001569.8 ENSMUST00000001569.9 Flot1 NR_176952 Q540I4 Q540I4_MOUSE uc008cip.1 uc008cip.2 uc008cip.3 Heterooligomeric complex of flotillin-1 and flotillin-2 and caveolin-1 and caveolin-2. Interacts with ECPAS. Membrane Endosome Belongs to the band 7/mec-2 family. Flotillin subfamily. membrane raft assembly positive regulation of cytokine production uropod positive regulation of protein phosphorylation protease binding regulation of receptor internalization endosome early endosome microtubule organizing center plasma membrane caveola cell-cell junction cell-cell adherens junction COP9 signalosome basolateral plasma membrane flotillin complex extracellular matrix disassembly lamellipodium cortical actin cytoskeleton cytoplasmic vesicle positive regulation of protein binding positive regulation of interferon-beta production dsRNA transport positive regulation of heterotypic cell-cell adhesion positive regulation of toll-like receptor 3 signaling pathway centriolar satellite response to endoplasmic reticulum stress ionotropic glutamate receptor binding cell-cell contact zone plasma membrane raft assembly membrane raft synapse positive regulation of endocytosis protein heterodimerization activity positive regulation of skeletal muscle tissue development presynaptic active zone protein stabilization positive regulation of NF-kappaB transcription factor activity protein homooligomerization regulation of neurotransmitter uptake positive regulation of cell adhesion molecule production protein kinase C signaling cellular response to exogenous dsRNA protein localization to plasma membrane presynapse glutamatergic synapse GABA-ergic synapse positive regulation of myoblast fusion positive regulation of cell junction assembly protein localization to membrane raft positive regulation of cell-cell adhesion mediated by cadherin uc008cip.1 uc008cip.2 uc008cip.3 
ENSMUST00000001583.8 Ell2 ENSMUST00000001583.8 elongation factor for RNA polymerase II 2 (from RefSeq NM_138953.2) E9QPE1 ELL2_MOUSE ENSMUST00000001583.1 ENSMUST00000001583.2 ENSMUST00000001583.3 ENSMUST00000001583.4 ENSMUST00000001583.5 ENSMUST00000001583.6 ENSMUST00000001583.7 NM_138953 Q3UKU1 uc007rfu.1 uc007rfu.2 uc007rfu.3 uc007rfu.4 Elongation factor component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. Component of the little elongation complex (LEC), a complex required to regulate small nuclear RNA (snRNA) gene transcription by RNA polymerase II and III (By similarity). Plays a role in immunoglobulin secretion in plasma cells: directs efficient alternative mRNA processing, influencing both proximal poly(A) site choice and exon skipping, as well as immunoglobulin heavy chain (IgH) alternative processing. Probably acts by regulating histone modifications accompanying transition from membrane-specific to secretory IgH mRNA expression. Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Component of the little elongation complex (LEC), at least composed of ELL (ELL, ELL2 or ELL3), ZC3H8, ICE1 and ICE2. Interacts with AFF4; the interaction is direct and leads to stabilize ELL2 and prevent ELL2 ubiquitination. Interacts with EAF1 and EAF2 (By similarity). Nucleus Ubiquitinated by SIAH1, leading to its degradation by the proteasome. Interaction with AFF4 stabilizes ELL2 and prevents ELL2 ubiquitination (By similarity). Belongs to the ELL/occludin family. nucleus nucleoplasm transcription elongation from RNA polymerase II promoter transcription elongation factor complex positive regulation of transcription elongation from RNA polymerase II promoter snRNA transcription from RNA polymerase II promoter uc007rfu.1 uc007rfu.2 uc007rfu.3 uc007rfu.4 
ENSMUST00000001592.15 Jup ENSMUST00000001592.15 junction plakoglobin (from RefSeq NM_010593.2) ENSMUST00000001592.1 ENSMUST00000001592.10 ENSMUST00000001592.11 ENSMUST00000001592.12 ENSMUST00000001592.13 ENSMUST00000001592.14 ENSMUST00000001592.2 ENSMUST00000001592.3 ENSMUST00000001592.4 ENSMUST00000001592.5 ENSMUST00000001592.6 ENSMUST00000001592.7 ENSMUST00000001592.8 ENSMUST00000001592.9 Jup NM_010593 PLAK_MOUSE Q02257 Q8CGD3 uc007lkz.1 uc007lkz.2 uc007lkz.3 uc007lkz.4 Common junctional plaque protein. The membrane-associated plaques are architectural elements in an important strategic position to influence the arrangement and function of both the cytoskeleton and the cells within the tissue. The presence of plakoglobin in both the desmosomes and in the intermediate junctions suggests that it plays a central role in the structure and function of submembranous plaques. Acts as a substrate for VE-PTP and is required by it to stimulate VE- cadherin function in endothelial cells. Can replace beta-catenin in E- cadherin/catenin adhesion complexes which are proposed to couple cadherins to the actin cytoskeleton. Homodimer. Component of an E-cadherin/catenin adhesion complex composed of at least E-cadherin/CDH1 and gamma-catenin/JUP, and possibly alpha-catenin/CTNNA1; the complex is located to adherens junctions. The stable association of CTNNA1 is controversial as CTNNA1 was shown not to bind to F-actin when assembled in the complex. Interacts with MUC1. Interacts with CAV1. Interacts with PTPRJ. Interacts with DSG1. Interacts with DSC1 and DSC2. Interacts with PKP2 (By similarity). Cell junction, adherens junction Cell junction, desmosome Cytoplasm, cytoskeleton Membrane ; Peripheral membrane protein Note=Cytoplasmic in a soluble and membrane-associated form. The entire ARM repeats region mediates binding to CDH1/E- cadherin. The N-terminus and first three ARM repeats are sufficient for binding to DSG1. The N-terminus and first ARM repeat are sufficient for association with CTNNA1. DSC1 association requires both ends of the ARM repeat region (By similarity). May be phosphorylated by FER. Belongs to the beta-catenin family. positive regulation of cell-matrix adhesion desmosome assembly transcription coactivator activity structural molecule activity protein binding nucleus cytoplasm cytosol cytoskeleton intermediate filament plasma membrane cell-cell junction adherens junction cell-cell adherens junction fascia adherens cell adhesion cytoplasmic side of plasma membrane intercalated disc actin cytoskeleton membrane apicolateral plasma membrane lateral plasma membrane catenin complex cell migration protein kinase binding protein phosphatase binding Z disc cell junction desmosome protein-DNA complex nuclear hormone receptor binding regulation of cell proliferation positive regulation of protein import into nucleus negative regulation of blood vessel endothelial cell migration skin development alpha-catenin binding cadherin binding positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter cell adhesion molecule binding detection of mechanical stimulus positive regulation of sequence-specific DNA binding transcription factor activity protein heterooligomerization gamma-catenin-TCF7L2 complex cellular response to indole-3-methanol protein localization to plasma membrane bundle of His cell-Purkinje myocyte adhesion involved in cell communication regulation of heart rate by cardiac conduction cell-cell adhesion regulation of ventricular cardiac muscle cell action potential uc007lkz.1 uc007lkz.2 uc007lkz.3 uc007lkz.4 
ENSMUST00000001595.10 Fkbp10 ENSMUST00000001595.10 FK506 binding protein 10, transcript variant 1 (from RefSeq NM_010221.2) A2A4I0 ENSMUST00000001595.1 ENSMUST00000001595.2 ENSMUST00000001595.3 ENSMUST00000001595.4 ENSMUST00000001595.5 ENSMUST00000001595.6 ENSMUST00000001595.7 ENSMUST00000001595.8 ENSMUST00000001595.9 FKB10_MOUSE Fkbp-rs Fkbp1-rs Fkbp6 Fkbp65 Fkbprp NM_010221 Q61576 Q8VHI1 uc007llb.1 uc007llb.2 uc007llb.3 uc007llb.4 PPIases accelerate the folding of proteins during protein synthesis. Reaction=[protein]-peptidylproline (omega=180) = [protein]- peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA- COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8; Evidence=; Inhibited by both FK506 and rapamycin, but not by cyclosporin A. Endoplasmic reticulum lumen Expressed in aorta, brain, heart, kidney, lung, spleen and testis (PubMed:7493967, PubMed:11071917). Not detected in liver (PubMed:7493967). Expressed in 12-day-old mouse; no or barely detectable expression is found in adult tissues. N-glycosylated. Phosphorylated. protein peptidyl-prolyl isomerization peptidyl-prolyl cis-trans isomerase activity calcium ion binding protein binding FK506 binding endoplasmic reticulum endoplasmic reticulum lumen cytosol membrane isomerase activity peptidyl-proline modification metal ion binding uc007llb.1 uc007llb.2 uc007llb.3 uc007llb.4 
ENSMUST00000001599.4 Klhl10 ENSMUST00000001599.4 kelch-like 10, transcript variant 1 (from RefSeq NM_025727.4) ENSMUST00000001599.1 ENSMUST00000001599.2 ENSMUST00000001599.3 KLH10_MOUSE NM_025727 Q8BVM3 Q9D5V2 Q9DA07 uc007lli.1 uc007lli.2 uc007lli.3 May be a substrate-specific adapter of a CUL3-based E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins during spermatogenesis. Required for male fertility. Protein modification; protein ubiquitination. Self-associates (By similarity). Interacts with CUL3; indicative for the participation in an E3 ubiquitin ligase complex. Cytoplasm Testis specific. Expressed in elongating and elongated spermatids (steps 9-16). Heterozygous males are completely infertile because of disrupted spermiogenesis characterized by asynchronous spermatid maturation, degeneration of late spermatids, sloughing of postmeiotic germ cells from the seminiferous epithelium, and marked reduction in the numbers of late spermatids. Does not seem to associate with actin. cell morphogenesis protein binding cytoplasm spermatogenesis spermatid development male gonad development fertilization protein ubiquitination cell differentiation male genitalia morphogenesis homeostasis of number of cells within a tissue uc007lli.1 uc007lli.2 uc007lli.3 
ENSMUST00000001611.11 Nom1 ENSMUST00000001611.11 nucleolar protein with MIF4G domain 1, transcript variant 3 (from RefSeq NR_153386.1) E9QPB9 ENSMUST00000001611.1 ENSMUST00000001611.10 ENSMUST00000001611.2 ENSMUST00000001611.3 ENSMUST00000001611.4 ENSMUST00000001611.5 ENSMUST00000001611.6 ENSMUST00000001611.7 ENSMUST00000001611.8 ENSMUST00000001611.9 Gm1040 NOM1_MOUSE NR_153386 Q3UFM5 uc008wuj.1 uc008wuj.2 uc008wuj.3 Plays a role in targeting PPP1CA to the nucleolus. May interact with EIF4A1, EIF4A2 and EIF4A3. Interacts with PPP1CA and PPP1CC (By similarity). Nucleus, nucleolus Belongs to the CWC22 family. RNA binding nucleus nucleolus ribosomal small subunit biogenesis hair follicle maturation uc008wuj.1 uc008wuj.2 uc008wuj.3 
ENSMUST00000001620.13 Fxr1 ENSMUST00000001620.13 FMR1 autosomal homolog 1, transcript variant 1 (from RefSeq NM_001113188.2) ENSMUST00000001620.1 ENSMUST00000001620.10 ENSMUST00000001620.11 ENSMUST00000001620.12 ENSMUST00000001620.2 ENSMUST00000001620.3 ENSMUST00000001620.4 ENSMUST00000001620.5 ENSMUST00000001620.6 ENSMUST00000001620.7 ENSMUST00000001620.8 ENSMUST00000001620.9 FXR1_MOUSE Fxr1 Fxr1h NM_001113188 Q61584 Q8VCU4 Q9R1E2 Q9R1E3 Q9R1E4 Q9R1E5 Q9WUA7 Q9WUA8 Q9WUA9 uc008oxn.1 uc008oxn.2 uc008oxn.3 uc008oxn.4 uc008oxn.5 mRNA-binding protein that acts as a regulator of mRNAs translation and/or stability, and which is required for various processes, such as neurogenesis, muscle development and spermatogenesis (PubMed:15128702, PubMed:25456134, PubMed:32328638, PubMed:35951695). Specifically binds to AU-rich elements (AREs) in the 3'-UTR of target mRNAs (PubMed:25456134). Promotes formation of some phase-separated membraneless compartment by undergoing liquid-liquid phase separation upon binding to AREs-containing mRNAs, leading to assemble mRNAs into cytoplasmic ribonucleoprotein granules that concentrate mRNAs with associated regulatory factors (PubMed:32328638, PubMed:35951695). Required to activate translation of stored mRNAs during late spermatogenesis: acts by undergoing liquid-liquid phase separation to assemble target mRNAs into cytoplasmic ribonucleoprotein granules that recruit translation initiation factor EIF4G3 to activate translation of stored mRNAs in late spermatids (PubMed:35951695). Promotes translation of MYC transcripts by recruiting the eIF4F complex to the translation start site (By similarity). Acts as a negative regulator of inflammation in response to IL19 by promoting destabilization of pro- inflammatory transcripts (By similarity). Also acts as an inhibitor of inflammation by binding to TNF mRNA, decreasing TNF protein production (PubMed:15548538). Acts as a negative regulator of AMPA receptor GRIA2/GluA2 synthesis during long-lasting synaptic potentiation of hippocampal neurons by binding to GRIA2/GluA2 mRNA, thereby inhibiting its translation (PubMed:25456134). Regulates proliferation of adult neural stem cells by binding to CDKN1A mRNA and promoting its expression (PubMed:28204491). Acts as a regulator of sleep and synaptic homeostasis by regulating translation of transcripts in neurons (PubMed:32893934). Required for embryonic and postnatal development of muscle tissue by undergoing liquid-liquid phase separation to assemble target mRNAs into cytoplasmic ribonucleoprotein granules (PubMed:15128702, PubMed:32328638). Involved in the nuclear pore complex localization to the nuclear envelope by preventing cytoplasmic aggregation of nucleoporins: acts by preventing ectopic phase separation of nucleoporins in the cytoplasm via a microtubule-dependent mechanism (By similarity). Interacts with FMR1 (By similarity). Interacts with FRX2 (By similarity). Interacts with TDRD3 (By similarity). Interacts with HABP4 (By similarity). Interacts with CYFIP2 but not with CYFIP1 (PubMed:11438699). Interacts with EIF4G3; promoting translation of target mRNAs (PubMed:35951695). Interacts with ELAVL1 (By similarity). Interacts with CEP63; inhibiting 'Lys-63'-linked ubiquitination (By similarity). Cytoplasm, Cytoplasmic ribonucleoprotein granule Cytoplasm, Stress granule Cytoplasm Cell projection, dendrite Cell projection, dendritic spine Cell projection, axon Nucleus envelope Postsynapse Note=Specifically localizes to cytoplasmic ribonucleoprotein membraneless compartments (PubMed:35951695). Localizes to stress granules following phosphorylation at Ser-449 by PAK1 (By similarity). Adjacent to Z-lines in muscles (PubMed:30770808). Event=Alternative splicing; Named isoforms=7; Name=E; IsoId=Q61584-1; Sequence=Displayed; Name=A; IsoId=Q61584-2; Sequence=VSP_002836, VSP_002838, VSP_002840; Name=B; IsoId=Q61584-3; Sequence=VSP_002838; Name=C; IsoId=Q61584-4; Sequence=VSP_002839; Name=D; IsoId=Q61584-5; Sequence=VSP_002836, VSP_002839; Name=F; IsoId=Q61584-6; Sequence=VSP_002836; Name=G; IsoId=Q61584-7; Sequence=VSP_002837; In early embryogenesis, highest expression in somites and central nervous system (PubMed:10409431, PubMed:16000371). Also expressed in spinal cord, surrounding mesenchymal tissue and undifferentiated gonad (PubMed:10409431). In mid-embryogenesis, most prominent in gonad and muscle tissue (PubMed:10409431). Also expressed in liver, retina, telencephalon and mesencephalon (PubMed:10409431). In late embryogenesis, restricted to skeletal muscle and proliferative active layers of brain (PubMed:10409431). After birth, highly expressed in postmeiotic spermatids (at protein level) (PubMed:10409431, PubMed:35951695). Expressed in neurons of the developing hippocampus (PubMed:22022532). Expressed in new cells generated in the adult dentate gyrus throughout the progression of adult neurogenesis (PubMed:28204491). Intermediate levels are found in heart, liver and kidney with lower levels in brain and skeletal muscle (PubMed:10409431). Isoform(s) containing the 27 amino acid pocket (residues 564-590) are present in adult heart and muscle (PubMed:10409431, PubMed:32328638). [Isoform A]: Present in adult heart and muscle. [Isoform B]: Present in adult heart and muscle. [Isoform E]: Present in adult heart and muscle. [Isoform F]: Present in adult heart and muscle. [Isoform G]: Present in adult heart and muscle. Disordered region at the C-terminus undergoes liquid-liquid phase separation (LLPS) for the formation of a membraneless compartment that stores mRNAs. The tandem Agenet-like domains preferentially recognize trimethylated histone peptides. Phosphorylation at Ser-449 by PAK1 promotes its relocalization to stress granules and activity (By similarity). Phosphorylated by MAPK1/ERK2, promoting subsequent phosphorylation by GSK3B (PubMed:26240334). Phosphorylated by GSK3B, promoting ubiquitination and degradation by the proteasome (PubMed:26240334, PubMed:29142209, PubMed:32893934). Ubiquitinated by the SCF(FBXO4) complex, leading to its degradation by the proteasome: ubiquitination by the SCF(FBXO4) complex takes place following phosphorylation by GSK3B (PubMed:29142209, PubMed:32893934, PubMed:26240334). Ubiquitinated and degraded in a GSK3B-dependent manner in during both scaling and sleep deprivation (PubMed:32893934). Ubiquitinated via 'Lys-63'-linked ubiquitin, leading to its degradation: interaction with CEP63 inhibits 'Lys-63'-linked ubiquitination (By similarity). Death shortly after birth (PubMed:15128702). Mice expressing low levels of Fxr1 show postnatal growth retardation with reduced increase in muscle mass and strength (PubMed:15128702). They die within 3 weeks of birth (PubMed:15128702). Conditional deletion in macrophages leads to enhanced Tumor necrosis factor (TNF) production (PubMed:15548538). Conditional deletion in excitatory neurons in the forebrain of early postnatal mice enhances long-term storage of spatial memories, hippocampal late-phase long-term potentiation: defects are caused by de novo GRIA2/GluA2 synthesis (PubMed:25456134). Conditional deletion in adult neural stem cells results in fewer adult-born cells in the dentate gyrus, reducing populations across different stages of neurogenesis, including radial glia-like cells, intermediate progenitors, neuroblasts, immature neurons and neurons (PubMed:28204491). Conditional deletion in germline cells leads to male infertility: defects are caused by impaired translation of a subset of transcripts in adult mouse testes (PubMed:35951695). Belongs to the FMR1 family. regulation of alternative mRNA splicing, via spliceosome positive regulation of protein phosphorylation G-quadruplex RNA binding nucleic acid binding RNA binding mRNA binding mRNA 3'-UTR binding protein binding nucleus cytoplasm cytosol polysome regulation of translation multicellular organism development muscle organ development postsynaptic density negative regulation of translation cell differentiation axon dendrite growth cone RNA strand annealing activity ribonucleoprotein granule cytoplasmic ribonucleoprotein granule protein homodimerization activity neuronal cell body costamere dendritic spine regulation of mRNA stability dendritic spine neck translation regulator activity positive regulation of translation protein heterodimerization activity perinuclear region of cytoplasm regulation of filopodium assembly presynapse postsynapse glutamatergic synapse dendritic filopodium positive regulation of gene silencing by miRNA positive regulation of response to DNA damage stimulus uc008oxn.1 uc008oxn.2 uc008oxn.3 uc008oxn.4 uc008oxn.5 
ENSMUST00000001631.7 Acap1 ENSMUST00000001631.7 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (from RefSeq NM_153788.3) ACAP1_MOUSE Centb1 ENSMUST00000001631.1 ENSMUST00000001631.2 ENSMUST00000001631.3 ENSMUST00000001631.4 ENSMUST00000001631.5 ENSMUST00000001631.6 Kiaa0050 NM_153788 Q3U441 Q571H6 Q8K2H4 uc007jsg.1 uc007jsg.2 GTPase-activating protein (GAP) for ADP ribosylation factor 6 (ARF6) required for clathrin-dependent export of proteins from recycling endosomes to trans-Golgi network and cell surface. Required for regulated export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration (By similarity). GAP activity stimulated by phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidic acid. Banana-shaped homodimer laterally assembling into tetramers, the tetramers further pack helically onto the membrane. Interacts with GTP-bound ARF6. Interacts with third cytoplasmic loop of SLC2A4/GLUT4. Interacts with CLTC. Interacts with GULP1. Forms a complex with GDP- bound ARF6 and GULP1. Interacts with ITGB1; required for ITGB1 recycling. Recycling endosome membrane ; Peripheral membrane protein ; Cytoplasmic side PH domain binds phospholipids including phosphatidic acid, phosphatidylinositol 3-phosphate, phosphatidylinositol 3,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3). May mediate ACAP1-binding to PIP2 or PIP3 containing membranes. Only one PH domain of one ACAP1 dimer inserts into the membrane, while the other PH domain acts primaryly to interact with adjacent ACAP1 dimers (By similarity). The BAR domain mediates homodimerization, it can neither bind membrane nor impart curvature, but instead requires the neighboring PH domain to achieve these functions (By similarity). Cells overexpressing Acap1 show accumulation of an electron dense coat containing Acap1 and Cltc on internal membranes as well as accumulation of Tfrc in pericentriolar recycling endosomes. Adipocytes with reduced level of Acap1 or Cltc fail to transport SLC2A4/GLUT4 from recycling endosomes to the cell surface upon insulin stimulation. molecular_function GTPase activator activity endosome lipid metabolic process signal transduction biological_process membrane lipid catabolic process hydrolase activity positive regulation of GTPase activity metal ion binding recycling endosome membrane uc007jsg.1 uc007jsg.2 
ENSMUST00000001652.7 Bdkrb2 ENSMUST00000001652.7 bradykinin receptor, beta 2 (from RefSeq NM_009747.2) B9EHE3 BKRB2_MOUSE ENSMUST00000001652.1 ENSMUST00000001652.2 ENSMUST00000001652.3 ENSMUST00000001652.4 ENSMUST00000001652.5 ENSMUST00000001652.6 NM_009747 P32299 uc007oym.1 uc007oym.2 uc007oym.3 Receptor for bradykinin. It is associated with G proteins that activate a phosphatidylinositol-calcium second messenger system. Forms a complex with PECAM1 and GNAQ. Interacts with PECAM1 (By similarity). Cell membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P32299-1; Sequence=Displayed; Name=Short; IsoId=P32299-2; Sequence=VSP_001866; Belongs to the G-protein coupled receptor 1 family. Bradykinin receptor subfamily. BDKRB2 sub-subfamily. protease binding acute inflammatory response to antigenic stimulus G-protein coupled receptor activity bradykinin receptor activity endosome plasma membrane smooth muscle contraction signal transduction G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration negative regulation of cell proliferation response to salt stress membrane integral component of membrane beta-2 adrenergic receptor binding type 1 angiotensin receptor binding negative regulation of peptidyl-serine phosphorylation maintenance of permeability of blood-brain barrier vasoconstriction vasodilation negative regulation of blood pressure protein heterodimerization activity arachidonic acid secretion negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator uc007oym.1 uc007oym.2 uc007oym.3 
ENSMUST00000001667.13 Csn3 ENSMUST00000001667.13 casein kappa, transcript variant 3 (from RefSeq NM_001356571.1) CASK_MOUSE Csn10 Csnk ENSMUST00000001667.1 ENSMUST00000001667.10 ENSMUST00000001667.11 ENSMUST00000001667.12 ENSMUST00000001667.2 ENSMUST00000001667.3 ENSMUST00000001667.4 ENSMUST00000001667.5 ENSMUST00000001667.6 ENSMUST00000001667.7 ENSMUST00000001667.8 ENSMUST00000001667.9 NM_001356571 P06796 Q9D1U2 uc008xzi.1 uc008xzi.2 uc008xzi.3 Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk. Secreted. Mammary gland specific. Secreted in milk. Belongs to the kappa-casein family. molecular_function extracellular region extracellular space lactation protein stabilization uc008xzi.1 uc008xzi.2 uc008xzi.3 
ENSMUST00000001672.12 Ifrd1 ENSMUST00000001672.12 interferon-related developmental regulator 1, transcript variant 6 (from RefSeq NR_181996.1) ENSMUST00000001672.1 ENSMUST00000001672.10 ENSMUST00000001672.11 ENSMUST00000001672.2 ENSMUST00000001672.3 ENSMUST00000001672.4 ENSMUST00000001672.5 ENSMUST00000001672.6 ENSMUST00000001672.7 ENSMUST00000001672.8 ENSMUST00000001672.9 IFRD1_MOUSE NR_181996 P19182 P21835 P70228 Q80XM4 Tis7 uc007nky.1 uc007nky.2 uc007nky.3 uc007nky.4 Could play a role in regulating gene activity in the proliferative and/or differentiative pathways induced by NGF. May be an autocrine factor that attenuates or amplifies the initial ligand- induced signal. Interacts with PSIP1/LEDGF. By mitogens such as TPA in 373 cells and by nerve growth factor in PC12 pheochromocytoma cells. Belongs to the IFRD family. Was originally thought to be interferon beta-2. nucleus cytoplasm multicellular organism development striated muscle tissue development cell differentiation negative regulation of axon extension muscle cell differentiation skeletal muscle tissue regeneration positive regulation of transcription from RNA polymerase II promoter negative regulation of collateral sprouting positive regulation of sequence-specific DNA binding transcription factor activity RNA polymerase II sequence-specific DNA binding transcription factor binding uc007nky.1 uc007nky.2 uc007nky.3 uc007nky.4 
ENSMUST00000001675.14 Stk38l ENSMUST00000001675.14 serine/threonine kinase 38 like, transcript variant 1 (from RefSeq NM_172734.3) B2KFR4 ENSMUST00000001675.1 ENSMUST00000001675.10 ENSMUST00000001675.11 ENSMUST00000001675.12 ENSMUST00000001675.13 ENSMUST00000001675.2 ENSMUST00000001675.3 ENSMUST00000001675.4 ENSMUST00000001675.5 ENSMUST00000001675.6 ENSMUST00000001675.7 ENSMUST00000001675.8 ENSMUST00000001675.9 NM_172734 Ndr2 Q6P6K6 Q7TSE6 Q8BWK4 ST38L_MOUSE Stk38l uc009esh.1 uc009esh.2 uc009esh.3 uc009esh.4 Involved in the regulation of structural processes in differentiating and mature neuronal cells. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Activated by binding of S100B which releases autoinhibitory N-lobe interactions, enabling ATP to bind and the autophosphorylation of Ser-282. Thr-442 then undergoes calcium- dependent phosphorylation by STK24/MST3. Interactions between phosphorylated Thr-442 and the N-lobe promote additional structural changes that complete the activation of the kinase. Autoinhibition is also released by the binding of MOB1/MOBKL1A and MOB2 to the N-terminal of STK38L (By similarity). Homodimeric S100B binds two molecules of STK38L. Interacts with MOB1 and MOB2 (By similarity). Interacts with MICAL1; leading to inhibit the protein kinase activity by antagonizing activation by MST1/STK4. Cytoplasm Cytoplasm, cytoskeleton Membrane Note=Associated with the actin cytoskeleton. Co-localizes with STK24/MST3 in the membrane. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7TSE6-1; Sequence=Displayed; Name=2; IsoId=Q7TSE6-2; Sequence=VSP_012334; Highly expressed in the large and small intestine, stomach and testis. High levels also present in the brain, in particular the neurocortex, basal forebrain, hippocampus, the amygdala, cerebellum and brainstem. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. nucleotide binding magnesium ion binding actin binding protein kinase activity protein serine/threonine kinase activity ATP binding cytoplasm cytosol cytoskeleton protein phosphorylation actin cytoskeleton membrane kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation intracellular signal transduction metal ion binding regulation of cellular component organization uc009esh.1 uc009esh.2 uc009esh.3 uc009esh.4 
ENSMUST00000001699.8 Hoxc10 ENSMUST00000001699.8 homeobox C10 (from RefSeq NM_010462.5) ENSMUST00000001699.1 ENSMUST00000001699.2 ENSMUST00000001699.3 ENSMUST00000001699.4 ENSMUST00000001699.5 ENSMUST00000001699.6 ENSMUST00000001699.7 HXC10_MOUSE Hox-3.6 Hoxc-10 NM_010462 P31257 P31312 Q7TMT7 uc007xwz.1 uc007xwz.2 uc007xwz.3 uc007xwz.4 uc007xwz.5 Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Belongs to the Abd-B homeobox family. RNA polymerase II regulatory region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding skeletal system development DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development anterior/posterior pattern specification proximal/distal pattern formation nuclear body spinal cord motor neuron cell fate specification embryonic limb morphogenesis sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter neuromuscular process uc007xwz.1 uc007xwz.2 uc007xwz.3 uc007xwz.4 uc007xwz.5 
ENSMUST00000001700.7 Hoxc13 ENSMUST00000001700.7 homeobox C13 (from RefSeq NM_010464.2) ENSMUST00000001700.1 ENSMUST00000001700.2 ENSMUST00000001700.3 ENSMUST00000001700.4 ENSMUST00000001700.5 ENSMUST00000001700.6 HXC13_MOUSE Hoxc-13 NM_010464 P50207 Q53Z78 Q920I7 uc007xwv.1 uc007xwv.2 uc007xwv.3 Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair- specific genes. Nucleus. Expressed in differentiating keratinocytes. In the hair follicle lower matrix, expressed in all 3 hair shaft-forming compartments, i.e. cuticle, cortex and medulla. Expression stops sharply at the boundary with the germinal matrix compartment. Belongs to the Abd-B homeobox family. transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding hair follicle development DNA binding chromatin binding nucleus regulation of transcription, DNA-templated multicellular organism development anatomical structure morphogenesis anterior/posterior pattern specification nail development sequence-specific DNA binding tongue morphogenesis positive regulation of transcription from RNA polymerase II promoter uc007xwv.1 uc007xwv.2 uc007xwv.3 
ENSMUST00000001701.4 Hoxc11 ENSMUST00000001701.4 homeobox C11 (from RefSeq NM_001024842.1) B9EI74 ENSMUST00000001701.1 ENSMUST00000001701.2 ENSMUST00000001701.3 HXC11_MOUSE Hox-3.7 Hoxc-11 NM_001024842 P31313 uc007xwy.1 uc007xwy.2 uc007xwy.3 Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Belongs to the Abd-B homeobox family. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding skeletal system development metanephros development organ induction DNA binding nucleus nucleoplasm cytosol regulation of transcription, DNA-templated multicellular organism development anterior/posterior pattern specification proximal/distal pattern formation embryonic digit morphogenesis sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter embryonic skeletal joint morphogenesis uc007xwy.1 uc007xwy.2 uc007xwy.3 
ENSMUST00000001703.8 Hoxc8 ENSMUST00000001703.8 homeobox C8 (from RefSeq NM_010466.2) ENSMUST00000001703.1 ENSMUST00000001703.2 ENSMUST00000001703.3 ENSMUST00000001703.4 ENSMUST00000001703.5 ENSMUST00000001703.6 ENSMUST00000001703.7 HXC8_MOUSE Hox-3.1 Hoxc-8 NM_010466 P09025 uc012aaf.1 uc012aaf.2 uc012aaf.3 Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Interacts with HOMEZ (By similarity). Forms a DNA-binding heterodimer with transcription factor PBX1 (PubMed:7791786). Nucleus. Initially found in all tissues of the posterior region in 8.5 and 9.5 dpc. Embryos, it eventually become specifically located in neural tissue. Belongs to the Antp homeobox family. negative regulation of transcription from RNA polymerase II promoter DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development anterior/posterior pattern specification microtubule cytoskeleton neuron differentiation sequence-specific DNA binding skeletal system morphogenesis uc012aaf.1 uc012aaf.2 uc012aaf.3 
ENSMUST00000001706.7 Hoxc9 ENSMUST00000001706.7 homeobox C9 (from RefSeq NM_008272.3) ENSMUST00000001706.1 ENSMUST00000001706.2 ENSMUST00000001706.3 ENSMUST00000001706.4 ENSMUST00000001706.5 ENSMUST00000001706.6 HXC9_MOUSE Hox-3.2 Hoxc-9 NM_008272 P09633 uc007xxa.1 uc007xxa.2 uc007xxa.3 Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Interacts with Geminin/GMNN, which inhibits transcriptional activity. Nucleus. Belongs to the Abd-B homeobox family. DNA binding nucleus nucleoplasm transcription, DNA-templated regulation of transcription, DNA-templated multicellular organism development anterior/posterior pattern specification aggresome sequence-specific DNA binding embryonic skeletal system morphogenesis embryonic skeletal system development uc007xxa.1 uc007xxa.2 uc007xxa.3 
ENSMUST00000001709.3 Hoxc5 ENSMUST00000001709.3 homeobox C5 (from RefSeq NM_175730.5) ENSMUST00000001709.1 ENSMUST00000001709.2 HXC5_MOUSE Hox-3.4 Hoxc-5 NM_175730 P32043 Q8BJW4 uc007xxe.1 uc007xxe.2 uc007xxe.3 Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Belongs to the Antp homeobox family. RNA polymerase II distal enhancer sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development anterior/posterior pattern specification cell junction sequence-specific DNA binding embryonic skeletal system development uc007xxe.1 uc007xxe.2 uc007xxe.3 
ENSMUST00000001711.6 Hoxc6 ENSMUST00000001711.6 homeobox C6 (from RefSeq NM_010465.2) ENSMUST00000001711.1 ENSMUST00000001711.2 ENSMUST00000001711.3 ENSMUST00000001711.4 ENSMUST00000001711.5 HXC6_MOUSE Hox-3.3 Hoxc-6 NM_010465 P10629 Q61683 uc007xxd.1 uc007xxd.2 uc007xxd.3 Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=PRII; IsoId=P10629-1; Sequence=Displayed; Name=PRI; IsoId=P10629-2; Sequence=VSP_002393; Belongs to the Antp homeobox family. RNA polymerase II distal enhancer sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm cytosol regulation of transcription, DNA-templated multicellular organism development anterior/posterior pattern specification sequence-specific DNA binding embryonic skeletal system development uc007xxd.1 uc007xxd.2 uc007xxd.3 
ENSMUST00000001712.8 Cabin1 ENSMUST00000001712.8 calcineurin binding protein 1 (from RefSeq NM_172549.3) Cabin1 ENSMUST00000001712.1 ENSMUST00000001712.2 ENSMUST00000001712.3 ENSMUST00000001712.4 ENSMUST00000001712.5 ENSMUST00000001712.6 ENSMUST00000001712.7 G3X8Q1 G3X8Q1_MOUSE NM_172549 uc007fqx.1 uc007fqx.2 uc007fqx.3 Nucleus protein phosphatase inhibitor activity nucleus nucleoplasm cytosol DNA replication-independent nucleosome assembly signal transduction aggresome protein domain specific binding protein phosphatase 2B binding negative regulation of phosphoprotein phosphatase activity negative regulation of cell death nucleosome binding uc007fqx.1 uc007fqx.2 uc007fqx.3 
ENSMUST00000001713.10 Gstt1 ENSMUST00000001713.10 glutathione S-transferase, theta 1, transcript variant 1 (from RefSeq NM_008185.3) ENSMUST00000001713.1 ENSMUST00000001713.2 ENSMUST00000001713.3 ENSMUST00000001713.4 ENSMUST00000001713.5 ENSMUST00000001713.6 ENSMUST00000001713.7 ENSMUST00000001713.8 ENSMUST00000001713.9 GSTT1_MOUSE NM_008185 Q64471 Q91X50 uc007frc.1 uc007frc.2 uc007frc.3 Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Also binds steroids, bilirubin, carcinogens and numerous organic anions. Has dichloromethane dehalogenase activity. Reaction=glutathione + RX = a halide anion + an S-substituted glutathione + H(+); Xref=Rhea:RHEA:16437, ChEBI:CHEBI:15378, ChEBI:CHEBI:16042, ChEBI:CHEBI:17792, ChEBI:CHEBI:57925, ChEBI:CHEBI:90779; EC=2.5.1.18; Evidence=; Homodimer. Cytoplasm. Nucleus. In liver, highest expression found in central vein limiting plate hepatocytes. Also expressed in interlobular bile duct epithelial cells. In lung, expressed in club cells and ciliated cells of the bronchiolar epithelium and in type II alveolar cells of the lung parenchyma. Belongs to the GST superfamily. Theta family. glutathione transferase activity glutathione peroxidase activity nucleus cytoplasm cytosol DNA modification glutathione metabolic process response to salicylic acid response to selenium ion response to organic cyclic compound transferase activity dichloromethane metabolic process response to vitamin E response to drug alkylhalidase activity cellular oxidant detoxification uc007frc.1 uc007frc.2 uc007frc.3 
ENSMUST00000001715.10 Gstt3 ENSMUST00000001715.10 glutathione S-transferase, theta 3, transcript variant 1 (from RefSeq NM_133994.3) ENSMUST00000001715.1 ENSMUST00000001715.2 ENSMUST00000001715.3 ENSMUST00000001715.4 ENSMUST00000001715.5 ENSMUST00000001715.6 ENSMUST00000001715.7 ENSMUST00000001715.8 ENSMUST00000001715.9 GSTT3_MOUSE Gstt3 NM_133994 Q6P6I4 Q99L20 uc007frb.1 uc007frb.2 uc007frb.3 Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Shows high activity towards 4-nitrobenzyl chloride (4-NBC). Also has lower activity towards 1,2-epoxy-3-(p-nitrophenoxy)propane (EPNP), cumene hydroperoxide, 1- chloro-2,4-dinitrobenzene (CDNB), 7-chloro-4-nitrobenzo-2-oxa-1,3- diazole (NBD-Cl), and ethacrynic acid. Reaction=glutathione + RX = a halide anion + an S-substituted glutathione + H(+); Xref=Rhea:RHEA:16437, ChEBI:CHEBI:15378, ChEBI:CHEBI:16042, ChEBI:CHEBI:17792, ChEBI:CHEBI:57925, ChEBI:CHEBI:90779; EC=2.5.1.18; Evidence=; Homodimer. Cytoplasm Expressed strongly in liver, and at lower levels in kidney and testis. Belongs to the GST superfamily. Theta family. glutathione transferase activity cytoplasm glutathione metabolic process transferase activity uc007frb.1 uc007frb.2 uc007frb.3 
ENSMUST00000001716.8 Ddt ENSMUST00000001716.8 D-dopachrome tautomerase (from RefSeq NM_010027.1) Ddt ENSMUST00000001716.1 ENSMUST00000001716.2 ENSMUST00000001716.3 ENSMUST00000001716.4 ENSMUST00000001716.5 ENSMUST00000001716.6 ENSMUST00000001716.7 NM_010027 Q3UNI8 Q3UNI8_MOUSE uc007fra.1 uc007fra.2 uc007fra.3 Tautomerization of D-dopachrome with decarboxylation to give 5,6-dihydroxyindole (DHI). Homotrimer. Belongs to the MIF family. uc007fra.1 uc007fra.2 uc007fra.3 
ENSMUST00000001720.14 Tat ENSMUST00000001720.14 tyrosine aminotransferase (from RefSeq NM_146214.3) ATTY_MOUSE ENSMUST00000001720.1 ENSMUST00000001720.10 ENSMUST00000001720.11 ENSMUST00000001720.12 ENSMUST00000001720.13 ENSMUST00000001720.2 ENSMUST00000001720.3 ENSMUST00000001720.4 ENSMUST00000001720.5 ENSMUST00000001720.6 ENSMUST00000001720.7 ENSMUST00000001720.8 ENSMUST00000001720.9 NM_146214 Q3UER7 Q8BTI1 Q8QZR1 uc009njs.1 uc009njs.2 uc009njs.3 uc009njs.4 This gene encodes a liver-specific mitochondrial enzyme that catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Regulated by glucocorticoid and polypeptide hormones, this gene's expression is affected by deletion of a regulatory region near the albino locus on chromosome 7. Mutations in this gene cause tyrosinemia type II in humans. [provided by RefSeq, Mar 2010]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK149383.1, BC030728.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: inferred from homology RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity for phenylalanine. Reaction=2-oxoglutarate + L-tyrosine = 3-(4-hydroxyphenyl)pyruvate + L- glutamate; Xref=Rhea:RHEA:15093, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:36242, ChEBI:CHEBI:58315; EC=2.6.1.5; Evidence=; Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326; Evidence=; Kinetic parameters: KM=1.8 mM for tyrosine ; KM=4.9 mM for glutamate ; KM=11.4 mM for phenylalanine ; KM=1.8 mM for 2-oxoglutarate ; KM=0.7 mM for p-hydroxyphenylpyruvate ; pH dependence: Optimum pH is 7. ; Temperature dependence: Optimum temperature is 55-70 degrees Celsius. ; Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 2/6. Homodimer. Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. catalytic activity L-tyrosine:2-oxoglutarate aminotransferase activity mitochondrion 2-oxoglutarate metabolic process cellular amino acid metabolic process glutamate metabolic process L-phenylalanine catabolic process tyrosine catabolic process response to oxidative stress transaminase activity biosynthetic process aromatic amino acid family metabolic process aromatic amino acid family catabolic process response to organic cyclic compound amino acid binding transferase activity pyridoxal phosphate binding response to mercury ion response to glucocorticoid uc009njs.1 uc009njs.2 uc009njs.3 uc009njs.4 
ENSMUST00000001724.12 Ddx18 ENSMUST00000001724.12 DEAD box helicase 18 (from RefSeq NM_025860.3) DDX18_MOUSE ENSMUST00000001724.1 ENSMUST00000001724.10 ENSMUST00000001724.11 ENSMUST00000001724.2 ENSMUST00000001724.3 ENSMUST00000001724.4 ENSMUST00000001724.5 ENSMUST00000001724.6 ENSMUST00000001724.7 ENSMUST00000001724.8 ENSMUST00000001724.9 NM_025860 Q3MIB0 Q8BVZ2 Q8K363 Q9D2E0 uc007cjw.1 uc007cjw.2 uc007cjw.3 uc007cjw.4 Probable RNA-dependent helicase. Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Interacts with NOL8; the interaction is RNA-dependent. Nucleus, nucleolus Chromosome Belongs to the DEAD box helicase family. DDX18/HAS1 subfamily. nucleotide binding maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleic acid binding RNA binding RNA helicase activity helicase activity ATP binding nucleus chromosome nucleolus hydrolase activity cellular response to estradiol stimulus uc007cjw.1 uc007cjw.2 uc007cjw.3 uc007cjw.4 
ENSMUST00000001757.9 Eef1e1 ENSMUST00000001757.9 eukaryotic translation elongation factor 1 epsilon 1 (from RefSeq NM_025380.2) ENSMUST00000001757.1 ENSMUST00000001757.2 ENSMUST00000001757.3 ENSMUST00000001757.4 ENSMUST00000001757.5 ENSMUST00000001757.6 ENSMUST00000001757.7 ENSMUST00000001757.8 MCA3_MOUSE NM_025380 Q9D1M4 uc007qdw.1 uc007qdw.2 uc007qdw.3 Positive modulator of ATM response to DNA damage. Part of a multisubunit complex that groups tRNA ligases for Arg (RARS1), Asp (DARS1), Gln (QARS1), Ile (IARS1), Leu (LARS1), Lys (KARS1), Met (MARS1) the bifunctional ligase for Glu and Pro (EPRS1) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:12060739). Can interact simultaneously with MARS1 and EPRS1. Forms a linear complex that contains MARS1, EEF1E1, EPRS1 and AIMP2 that is at the core of the multisubunit complex. Interacts with ATM and ATR. The interaction with ATM, which takes place independently of TP53, is induced by DNA damage that may occur during genotoxic stress or cell growth. The interaction with ATR is enhanced by UV irradiation (By similarity). Cytoplasm Nucleus Note=Cytoplasmic under growth arrest conditions. Translocated into the nucleus when growth resumes at S phase and following DNA damage. By DNA damaging agents, such as UV, adriamycin, actinomycin D and cisplatin. protein binding nucleus nucleoplasm nucleolus cytoplasm cytosol translation negative regulation of cell proliferation aminoacyl-tRNA synthetase multienzyme complex positive regulation of apoptotic process positive regulation of DNA damage response, signal transduction by p53 class mediator cellular response to leukemia inhibitory factor positive regulation of cellular senescence positive regulation of apoptotic signaling pathway uc007qdw.1 uc007qdw.2 uc007qdw.3 
ENSMUST00000001780.10 Akt1 ENSMUST00000001780.10 thymoma viral proto-oncogene 1, transcript variant 11 (from RefSeq NR_176844.1) AKT1_MOUSE Akt ENSMUST00000001780.1 ENSMUST00000001780.2 ENSMUST00000001780.3 ENSMUST00000001780.4 ENSMUST00000001780.5 ENSMUST00000001780.6 ENSMUST00000001780.7 ENSMUST00000001780.8 ENSMUST00000001780.9 NR_176844 P31750 Q62274 Q6GSA6 Rac uc007pex.1 uc007pex.2 uc007pex.3 AKT1 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis (PubMed:11882383, PubMed:21620960, PubMed:21432781, PubMed:26095253, PubMed:26107252, PubMed:32350463). This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported (PubMed:11882383, PubMed:21620960, PubMed:21432781). AKT is responsible of the regulation of glucose uptake by mediating insulin- induced translocation of the SLC2A4/GLUT4 glucose transporter to the cell surface (PubMed:9415393). Phosphorylation of PTPN1 at 'Ser-50' negatively modulates its phosphatase activity preventing dephosphorylation of the insulin receptor and the attenuation of insulin signaling (PubMed:11579209). Phosphorylation of TBC1D4 triggers the binding of this effector to inhibitory 14-3-3 proteins, which is required for insulin-stimulated glucose transport (PubMed:11994271). AKT regulates also the storage of glucose in the form of glycogen by phosphorylating GSK3A at 'Ser-21' and GSK3B at 'Ser-9', resulting in inhibition of its kinase activity (PubMed:22057101). Phosphorylation of GSK3 isoforms by AKT is also thought to be one mechanism by which cell proliferation is driven (PubMed:22057101). AKT regulates also cell survival via the phosphorylation of MAP3K5 (apoptosis signal-related kinase). Phosphorylation of 'Ser-83' decreases MAP3K5 kinase activity stimulated by oxidative stress and thereby prevents apoptosis. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2 at 'Ser-939' and 'Thr-1462', thereby activating the mTORC1 signaling pathway, and leading to both phosphorylation of 4E-BP1 and in activation of RPS6KB1. Also regulates the mTORC1 signaling pathway by catalyzing phosphorylation of CASTOR1 and DEPDC5. AKT is involved in the phosphorylation of members of the FOXO factors (Forkhead family of transcription factors), leading to binding of 14-3-3 proteins and cytoplasmic localization. In particular, FOXO1 is phosphorylated at 'Thr-24', 'Ser-256' and 'Ser-319'. FOXO3 and FOXO4 are phosphorylated on equivalent sites. AKT has an important role in the regulation of NF- kappa-B-dependent gene transcription and positively regulates the activity of CREB1 (cyclic AMP (cAMP)-response element binding protein). The phosphorylation of CREB1 induces the binding of accessory proteins that are necessary for the transcription of pro-survival genes such as BCL2 and MCL1 (By similarity). AKT phosphorylates 'Ser-454' on ATP citrate lyase (ACLY), thereby potentially regulating ACLY activity and fatty acid synthesis (By similarity). Activates the 3B isoform of cyclic nucleotide phosphodiesterase (PDE3B) via phosphorylation of 'Ser-273', resulting in reduced cyclic AMP levels and inhibition of lipolysis (PubMed:10454575). Phosphorylates PIKFYVE on 'Ser-318', which results in increased PI(3)P-5 activity (By similarity). The Rho GTPase- activating protein DLC1 is another substrate and its phosphorylation is implicated in the regulation cell proliferation and cell growth (By similarity). AKT plays a role as key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation (PubMed:19778506). Signals downstream of phosphatidylinositol 3-kinase (PI(3)K) to mediate the effects of various growth factors such as platelet-derived growth factor (PDGF), epidermal growth factor (EGF), insulin and insulin-like growth factor I (IGF-I) (PubMed:11282895, PubMed:18288188). AKT mediates the antiapoptotic effects of IGF-I (PubMed:11282895). Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly (By similarity). May be involved in the regulation of the placental development (PubMed:12783884). Phosphorylates STK4/MST1 at 'Thr-120' and 'Thr-387' leading to inhibition of its: kinase activity, nuclear translocation, autophosphorylation and ability to phosphorylate FOXO3. Phosphorylates STK3/MST2 at 'Thr-117' and 'Thr-384' leading to inhibition of its: cleavage, kinase activity, autophosphorylation at Thr-180, binding to RASSF1 and nuclear translocation. Phosphorylates SRPK2 and enhances its kinase activity towards SRSF2 and ACIN1 and promotes its nuclear translocation. Phosphorylates RAF1 at 'Ser-259' and negatively regulates its activity. Phosphorylation of BAD stimulates its pro- apoptotic activity. Phosphorylates KAT6A at 'Thr-369' and this phosphorylation inhibits the interaction of KAT6A with PML and negatively regulates its acetylation activity towards p53/TP53. Phosphorylates palladin (PALLD), modulating cytoskeletal organization and cell motility. Phosphorylates prohibitin (PHB), playing an important role in cell metabolism and proliferation. Phosphorylates CDKN1A, for which phosphorylation at 'Thr-145' induces its release from CDK2 and cytoplasmic relocalization. These recent findings indicate that the AKT1 isoform has a more specific role in cell motility and proliferation. Phosphorylates CLK2 thereby controlling cell survival to ionizing radiation (By similarity). Phosphorylates PCK1 at 'Ser-90', reducing the binding affinity of PCK1 to oxaloacetate and changing PCK1 into an atypical protein kinase activity using GTP as donor (By similarity). Also acts as an activator of TMEM175 potassium channel activity in response to growth factors: forms the lysoK(GF) complex together with TMEM175 and acts by promoting TMEM175 channel activation, independently of its protein kinase activity (PubMed:32228865). Acts as a negative regulator of the cGAS-STING pathway by mediating phosphorylation of CGAS during mitosis, leading to its inhibition (PubMed:26440888). Acts as an inhibitor of tRNA methylation by mediating phosphorylation of the N-terminus of METTL1, thereby inhibiting METTL1 methyltransferase activity (By similarity). In response to LPAR1 receptor pathway activation, phosphorylates Rabin8/RAB3IP which alters its activity and phosphorylates WDR44 which induces WDR44 binding to Rab11, thereby switching Rab11 vesicular function from preciliary trafficking to endocytic recycling (By similarity). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Three specific sites, one in the kinase domain (Thr-308) and the two other ones in the C-terminal regulatory region (Ser-473 and Tyr-474), need to be phosphorylated for its full activation. Interacts with and phosphorylated by PDPK1 (By similarity). Interacts with AGAP2 (isoform 2/PIKE-A); the interaction occurs in the presence of guanine nucleotides. Interacts with AKTIP. Interacts (via PH domain) with MTCP1, TCL1A and TCL1B. Interacts with CDKN1B; the interaction phosphorylates CDKN1B promoting 14-3-3 binding and cell- cycle progression. Interacts with MAP3K5 and TRAF6. Interacts with BAD, PPP2R5B, STK3 and STK4. Interacts (via PH domain) with SIRT1. Interacts with SRPK2 in a phosphorylation-dependent manner. Interacts with TRIM13; the interaction ubiquitinates AKT1 leading to its proteasomal degradation. Interacts with RAF1 (By similarity). Interacts (via the C- terminus) with CCDC88A (via its C-terminus) and THEM4 (via its C- terminus). Interacts with GRB10; the interaction leads to GRB10 phosphorylation thus promoting YWHAE-binding. Interacts with KCTD20 (PubMed:24156551). Interacts with BTBD10 (PubMed:18160256). Interacts with PA2G4 (By similarity). Interacts with KIF14; the interaction is detected in the plasma membrane upon INS stimulation and promotes AKT1 phosphorylation (By similarity). Interacts with FAM83B; activates the PI3K/AKT signaling cascade (By similarity). Interacts with WDFY2 (via WD repeats 1-3) (PubMed:16792529, PubMed:20189988). Forms a complex with WDFY2 and FOXO1 (PubMed:18388859). Interacts with FAM168A (By similarity). Interacts with SYAP1 (via phosphorylated form and BSD domain); this interaction is enhanced in a mTORC2-mediated manner in response to epidermal growth factor (EGF) stimulation and activates AKT1 (PubMed:23300339). Interacts with PKHM3 (PubMed:19028694). Interacts with FKBP5/FKBP51; promoting interaction between Akt/AKT1 and PHLPP1, thereby enhancing dephosphorylation and subsequent activation of Akt/AKT1 (By similarity). Interacts with TMEM175; leading to formation of the lysoK(GF) complex (By similarity). P31750; Q9Z2V5: Hdac6; NbExp=2; IntAct=EBI-298707, EBI-1009256; P31750; P07901: Hsp90aa1; NbExp=6; IntAct=EBI-298707, EBI-78930; P31750; P05480: Src; NbExp=3; IntAct=EBI-298707, EBI-298680; P31750; Q8K4K2: Trib3; NbExp=5; IntAct=EBI-298707, EBI-448962; P31750; P62991: Ubc; NbExp=3; IntAct=EBI-298707, EBI-413074; P31750; P32121: ARRB2; Xeno; NbExp=3; IntAct=EBI-298707, EBI-714559; P31750; Q1W6H9: FAM110C; Xeno; NbExp=3; IntAct=EBI-298707, EBI-3942563; P31750; Q8TCU6: PREX1; Xeno; NbExp=2; IntAct=EBI-298707, EBI-1046542; P31750; P03165: X; Xeno; NbExp=2; IntAct=EBI-298707, EBI-7683985; Cytoplasm cleus ll membrane Note=Nucleus after activation by integrin-linked protein kinase 1 (ILK1) (By similarity). Nuclear translocation is enhanced by interaction with TCL1A. Phosphorylation on Tyr-176 by TNK2 results in its localization to the cell membrane where it is targeted for further phosphorylations on Thr-308 and Ser-473 leading to its activation and the activated form translocates to the nucleus. Colocalizes with WDFY2 in intracellular vesicles. Widely expressed. Low levels found in liver with slightly higher levels present in thymus and testis. Expressed in trophoblast and vessel endothelial cells of the placenta and in the brain at 14.5 dpc (at protein level). Binding of the PH domain to phosphatidylinositol 3,4,5- trisphosphate (PI(3,4,5)P3) following phosphatidylinositol 3-kinase alpha (PIK3CA) activity results in its targeting to the plasma membrane. The PH domain mediates interaction with TNK2 and Tyr-176 is also essential for this interaction. The AGC-kinase C-terminal mediates interaction with THEM4. O-GlcNAcylation at Thr-305 and Thr-312 inhibits activating phosphorylation at Thr-308 via disrupting the interaction between AKT1 and PDPK1 (By similarity). O-GlcNAcylation at Ser-473 also probably interferes with phosphorylation at this site (PubMed:18570920, PubMed:18288188). Phosphorylation on Thr-308, Ser-473 and Tyr-474 is required for full activity (PubMed:26095253, PubMed:26107252, PubMed:32350463). Activated TNK2 phosphorylates it on Tyr-176 resulting in its binding to the anionic plasma membrane phospholipid PA (By similarity). This phosphorylated form localizes to the plasma membrane, where it is targeted by PDPK1 and PDPK2 for further phosphorylations on Thr-308 and Ser-473 leading to its activation (By similarity). Ser-473 phosphorylation by mTORC2 favors Thr-308 phosphorylation by PDPK1 and PRKDC (PubMed:26095253, PubMed:26107252, PubMed:32350463). Phosphorylated at Thr-308 and Ser-473 by IKBKE and TBK1. Ser-473 phosphorylation is enhanced by signaling through activated FLT3 (By similarity). Ser-473 is dephosphorylated by PHLPP (By similarity). Dephosphorylated at Thr-308 and Ser-473 by PP2A phosphatase (PubMed:32350463). The phosphorylated form of PPP2R5B is required for bridging AKT1 with PP2A phosphatase (By similarity). Ser-473 is dephosphorylated by CPPED1, leading to termination of signaling (By similarity). AIM2 acts as an inhibitor of AKT1 by inhibiting phosphorylation Ser-473: AIM2 acts both by inhibiting the activity of PRKDC/DNA-PK kinase and promoting dephosphorylation by PP2A phosphatase (PubMed:26107252, PubMed:32350463). Ubiquitinated; undergoes both 'Lys-48'- and 'Lys-63'-linked polyubiquitination. TRAF6-induced 'Lys-63'-linked AKT1 ubiquitination is critical for phosphorylation and activation. When ubiquitinated, it translocates to the plasma membrane, where it becomes phosphorylated. When fully phosphorylated and translocated into the nucleus, undergoes 'Lys-48'-polyubiquitination catalyzed by TTC3, leading to its degradation by the proteasome. Also ubiquitinated by TRIM13 leading to its proteasomal degradation. Ubiquitinated via 'Lys-48'-linked polyubiquitination by ZNRF1, leading to its degradation by the proteasome. Phosphorylated, undergoes 'Lys-48'-linked polyubiquitination preferentially at Lys-284 catalyzed by MUL1, leading to its proteasomal degradation. Acetylated on Lys-14 and Lys-20 by the histone acetyltransferases EP300 and KAT2B. Acetylation results in reduced phosphorylation and inhibition of activity. Deacetylated at Lys-14 and Lys-20 by SIRT1. SIRT1-mediated deacetylation relieves the inhibition (By similarity). Cleavage by caspase-3/CASP3 (PubMed:12124386). Cleaved at the caspase-3 consensus site Asp-462 during apoptosis, resulting in down- regulation of the AKT signaling pathway and decreased cell survival (PubMed:12124386). Show fetal growth impairment and reduced vascularization in the placenta; majority of pups died within 10 days. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. RAC subfamily. In light of strong homologies in the primary amino acid sequence, the 3 AKT kinases were long surmised to play redundant and overlapping roles. More recent studies has brought into question the redundancy within AKT kinase isoforms and instead pointed to isoform specific functions in different cellular events and diseases. AKT1 is more specifically involved in cellular survival pathways, by inhibiting apoptotic processes; whereas AKT2 is more specific for the insulin receptor signaling pathway. Moreover, while AKT1 and AKT2 are often implicated in many aspects of cellular transformation, the 2 isoforms act in a complementary opposing manner. The role of AKT3 is less clear, though it appears to be predominantly expressed in brain. nucleotide binding osteoblast differentiation maternal placenta development positive regulation of protein phosphorylation positive regulation of endothelial cell proliferation cell migration involved in sprouting angiogenesis protein kinase activity protein serine/threonine kinase activity protein serine/threonine/tyrosine kinase activity protein kinase C binding protein binding calmodulin binding ATP binding phosphatidylinositol-3,4,5-trisphosphate binding nucleus cytoplasm mitochondrion spindle cytosol plasma membrane cell-cell junction carbohydrate metabolic process glycogen metabolic process glycogen biosynthetic process regulation of glycogen biosynthetic process glucose metabolic process translation regulation of translation protein phosphorylation negative regulation of protein kinase activity protein import into nucleus apoptotic process activation-induced cell death of T cells inflammatory response cellular response to DNA damage stimulus response to oxidative stress cytoskeleton organization signal transduction epidermal growth factor receptor signaling pathway I-kappaB kinase/NF-kappaB signaling multicellular organism development germ cell development nervous system development aging positive regulation of cell proliferation insulin receptor signaling pathway apoptotic mitochondrial changes carbohydrate transport response to hormone response to organic substance negative regulation of autophagy positive regulation of gene expression negative regulation of gene expression negative regulation of plasma membrane long-chain fatty acid transport positive regulation of fibroblast migration positive regulation of sodium ion transport positive regulation of glucose metabolic process positive regulation of mitochondrial membrane potential negative regulation of endopeptidase activity regulation of neuron projection development phosphatidylinositol 3-kinase signaling microtubule cytoskeleton membrane kinase activity phosphorylation protein ubiquitination transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation enzyme binding protein kinase binding spinal cord development cell projection organization protein catabolic process hyaluronan metabolic process nitric-oxide synthase regulator activity positive regulation of cell growth regulation of cell migration negative regulation of protein ubiquitination regulation of myelination lipopolysaccharide-mediated signaling pathway vesicle negative regulation of fatty acid beta-oxidation positive regulation of endodeoxyribonuclease activity negative regulation of protein binding response to food positive regulation of cellular protein metabolic process peripheral nervous system myelin maintenance positive regulation of proteasomal ubiquitin-dependent protein catabolic process GTPase activating protein binding cellular response to insulin stimulus regulation of protein localization macromolecular complex positive regulation of peptidyl-serine phosphorylation response to fluid shear stress cellular response to reactive oxygen species intracellular signal transduction interleukin-18-mediated signaling pathway cellular response to vascular endothelial growth factor stimulus ciliary basal body cellular response to decreased oxygen levels NIK/NF-kappaB signaling glucose homeostasis identical protein binding protein homodimerization activity regulation of apoptotic process positive regulation of apoptotic process negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process phosphatidylinositol-3,4-bisphosphate binding protein kinase B signaling positive regulation of blood vessel endothelial cell migration positive regulation of nitric oxide biosynthetic process positive regulation of fat cell differentiation positive regulation of glycogen biosynthetic process positive regulation of cyclin-dependent protein serine/threonine kinase activity negative regulation of cell size negative regulation of proteolysis positive regulation of transcription, DNA-templated positive regulation of vasoconstriction positive regulation of transcription from RNA polymerase II promoter positive regulation of glucose import negative regulation of JNK cascade positive regulation of organ growth positive regulation of lipid biosynthetic process insulin-like growth factor receptor signaling pathway positive regulation of smooth muscle cell proliferation positive regulation of nitric-oxide synthase activity positive regulation of sequence-specific DNA binding transcription factor activity striated muscle cell differentiation protein phosphatase 2A binding response to growth hormone glycogen cell differentiation involved in embryonic placenta development labyrinthine layer blood vessel development response to UV-A cellular response to mechanical stimulus cellular response to cadmium ion cellular response to tumor necrosis factor cellular response to growth factor stimulus cellular response to epidermal growth factor stimulus cellular response to prostaglandin E stimulus cellular response to organic cyclic compound cellular response to hypoxia 14-3-3 protein binding establishment of protein localization to mitochondrion maintenance of protein location in mitochondrion negative regulation of release of cytochrome c from mitochondria cellular response to granulocyte macrophage colony-stimulating factor stimulus execution phase of apoptosis positive regulation of G1/S transition of mitotic cell cycle positive regulation of protein localization to nucleus cellular response to peptide negative regulation of leukocyte cell-cell adhesion positive regulation of protein localization to plasma membrane positive regulation of I-kappaB phosphorylation cellular response to nerve growth factor stimulus response to insulin-like growth factor stimulus positive regulation of protein localization to cell surface negative regulation of lymphocyte migration negative regulation of intrinsic apoptotic signaling pathway uc007pex.1 uc007pex.2 uc007pex.3 
ENSMUST00000001792.12 Il16 ENSMUST00000001792.12 interleukin 16, transcript variant 2 (from RefSeq NM_010551.4) ENSMUST00000001792.1 ENSMUST00000001792.10 ENSMUST00000001792.11 ENSMUST00000001792.2 ENSMUST00000001792.3 ENSMUST00000001792.4 ENSMUST00000001792.5 ENSMUST00000001792.6 ENSMUST00000001792.7 ENSMUST00000001792.8 ENSMUST00000001792.9 IL16_MOUSE NM_010551 O54824 O70236 Q3TEM4 Q5DTR5 Q8R0G5 Q9QZP6 uc009ids.1 uc009ids.2 uc009ids.3 Interleukin-16 stimulates a migratory response in CD4+ lymphocytes, monocytes, and eosinophils. Primes CD4+ T-cells for IL-2 and IL-15 responsiveness. Also induces T-lymphocyte expression of interleukin 2 receptor. Ligand for CD4. Isoform 1 may act as a scaffolding protein that anchors ion channels in the membrane. Isoform 2 is involved in cell cycle progression in T-cells. Appears to be involved in transcriptional regulation of SKP2 and is probably part of a transcriptional repression complex on the core promoter of the SKP2 gene. May act as a scaffold for GABPB1 (the DNA- binding subunit the GABP transcription factor complex) and HDAC3 thus maintaining transcriptional repression and blocking cell cycle progression in resting T-cells. Homotetramer (Probable). Isoform 2 interacts with GRIN2A. Isoform 1 interacts with GRIN2D, KCNJ10, KCNJ15 and CACNA1C. Isoform 2 interacts (via PDZ 3 domain) with PPP1R12A, PPP1R12B and PPP1R12C. Isoform 1 interacts with PPP1R12B. Isoform 3 interacts with GABPB1. Isoform 2 interacts (via PDZ 3 domain) with HDAC3 (By similarity). O54824; Q7TS72: Itpkc; NbExp=3; IntAct=EBI-641708, EBI-648015; Secreted [Isoform 1]: Cytoplasm Note=Colocalizes with GRIN2C in neuronal cell bodies and neurites. [Isoform 2]: Cytoplasm. Nucleus Event=Alternative promoter usage; Named isoforms=2; Name=1; Synonyms=NIL-16; IsoId=O54824-1; Sequence=Displayed; Name=2; Synonyms=Pro-IL-16; IsoId=O54824-2; Sequence=VSP_037460; Isoform 1 is expressed in neurons of the cerebellum and hippocampus. Isoform 2 is expressed in thymus, spleen and lung. Synthesized as a chemo-attractant inactive precursor which is proteolytically cleaved by caspase-3 to yield IL-16. [Isoform 1]: Produced by alternative promoter usage. Is probably proteolytically processed to yield IL-16. [Isoform 2]: Produced by alternative promoter usage. Is proteolytically processed to yield IL-16. cytokine activity protein binding extracellular region extracellular space nucleus cytoplasm cytosol plasma membrane chemotaxis signal transduction nuclear speck leukocyte chemotaxis CD4 receptor binding induction of positive chemotaxis regulation of calcium ion transport uc009ids.1 uc009ids.2 uc009ids.3 
ENSMUST00000001801.11 Tcirg1 ENSMUST00000001801.11 T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3, transcript variant 2 (from RefSeq NM_001136091.2) ENSMUST00000001801.1 ENSMUST00000001801.10 ENSMUST00000001801.2 ENSMUST00000001801.3 ENSMUST00000001801.4 ENSMUST00000001801.5 ENSMUST00000001801.6 ENSMUST00000001801.7 ENSMUST00000001801.8 ENSMUST00000001801.9 NM_001136091 Oc116 Q9JHF5 Q9JHF5_MOUSE Tcirg1 uc008fxm.1 uc008fxm.2 uc008fxm.3 Essential component of the vacuolar proton pump (V-ATPase), a multimeric enzyme that catalyzes the translocation of protons across the membranes. Required for assembly and activity of the V-ATPase. Membrane ; Multi- pass membrane protein Belongs to the V-ATPase 116 kDa subunit family. vacuolar proton-transporting V-type ATPase, V0 domain ossification osteoclast proliferation immunoglobulin production nucleus mitochondrion lysosome late endosome plasma membrane ion transport cellular calcium ion homeostasis apoptotic process inflammatory response vacuolar acidification protein catabolic process in the vacuole regulation of proton transport response to silver ion regulation of gene expression hydrogen ion transmembrane transporter activity membrane integral component of membrane immunoglobulin mediated immune response macroautophagy apical plasma membrane vacuolar proton-transporting V-type ATPase complex optic nerve development myeloid cell differentiation B cell differentiation T cell differentiation osteoclast differentiation secretory granule membrane phagocytic vesicle membrane proton-transporting V-type ATPase, V0 domain memory T cell activation T-helper 1 cell activation odontogenesis T cell homeostasis tooth eruption phagocytic vesicle bone resorption regulation of osteoblast differentiation pH reduction proton-transporting ATPase activity, rotational mechanism homeostasis of number of cells regulation of insulin secretion ATPase binding retina development in camera-type eye hematopoietic stem cell homeostasis enamel mineralization cellular response to cytokine stimulus interferon-gamma secretion phagosome acidification dentin mineralization hydrogen ion transmembrane transport uc008fxm.1 uc008fxm.2 uc008fxm.3 
ENSMUST00000001802.10 Naglu ENSMUST00000001802.10 alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB), transcript variant 1 (from RefSeq NM_013792.3) ENSMUST00000001802.1 ENSMUST00000001802.2 ENSMUST00000001802.3 ENSMUST00000001802.4 ENSMUST00000001802.5 ENSMUST00000001802.6 ENSMUST00000001802.7 ENSMUST00000001802.8 ENSMUST00000001802.9 NM_013792 Naglu O88325 O88325_MOUSE uc007lna.1 uc007lna.2 uc007lna.3 uc007lna.4 uc007lna.5 lysosome organization cerebellar Purkinje cell layer development middle ear morphogenesis locomotor rhythm retinal rod cell development inner ear receptor cell development extracellular exosome uc007lna.1 uc007lna.2 uc007lna.3 uc007lna.4 uc007lna.5 
ENSMUST00000001806.10 Coasy ENSMUST00000001806.10 Coenzyme A synthase, transcript variant 2 (from RefSeq NR_155015.1) A2BFA8 COASY_MOUSE Coasy ENSMUST00000001806.1 ENSMUST00000001806.2 ENSMUST00000001806.3 ENSMUST00000001806.4 ENSMUST00000001806.5 ENSMUST00000001806.6 ENSMUST00000001806.7 ENSMUST00000001806.8 ENSMUST00000001806.9 NR_155015 Q3TVZ2 Q8K3Y4 Q9DBL7 Ukr1 uc007lnc.1 uc007lnc.2 uc007lnc.3 This gene encodes the bifunctional protein coenzyme A (CoA) synthase which carries out the last two steps in the biosynthesis of CoA from pantothenic acid (vitamin B5). The phosphopantetheine adenylyltransferase domain of this protein catalyzes the conversion of phosphopantetheine into dephospho-CoA while its dephospho-CoA kinase domain completes the final step by phosphorylating dephospho-CoA to form CoA. [provided by RefSeq, Apr 2015]. Bifunctional enzyme that catalyzes the fourth and fifth sequential steps of CoA biosynthetic pathway. The fourth reaction is catalyzed by the phosphopantetheine adenylyltransferase, coded by the coaD domain; the fifth reaction is catalyzed by the dephospho-CoA kinase, coded by the coaE domain. May act as a point of CoA biosynthesis regulation. Reaction=(R)-4'-phosphopantetheine + ATP + H(+) = 3'-dephospho-CoA + diphosphate; Xref=Rhea:RHEA:19801, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57328, ChEBI:CHEBI:61723; EC=2.7.7.3; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19802; Evidence=; Reaction=3'-dephospho-CoA + ATP = ADP + CoA + H(+); Xref=Rhea:RHEA:18245, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57287, ChEBI:CHEBI:57328, ChEBI:CHEBI:456216; EC=2.7.1.24; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:18246; Evidence=; Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)- pantothenate: step 4/5. Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)- pantothenate: step 5/5. Monomer. Cytoplasm Mitochondrion matrix Note=The protein is mainly present in the mitochondrial matrix, probably anchored to the inner mitochondrial membrane, but this protein is also present in cell lysate. Widely expressed with highest levels in kidney and lowest levels in colon, lung, intestine, and spleen. In the central section; belongs to the eukaryotic CoaD family. Sequence=AAH20046.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; nucleotide binding catalytic activity dephospho-CoA kinase activity pantetheine-phosphate adenylyltransferase activity ATP binding nucleoplasm cytoplasm mitochondrion mitochondrial matrix cytosol metabolic process biosynthetic process coenzyme A biosynthetic process kinase activity phosphorylation transferase activity nucleotidyltransferase activity uc007lnc.1 uc007lnc.2 uc007lnc.3 
ENSMUST00000001809.15 Pabpc1 ENSMUST00000001809.15 poly(A) binding protein, cytoplasmic 1 (from RefSeq NM_008774.3) ENSMUST00000001809.1 ENSMUST00000001809.10 ENSMUST00000001809.11 ENSMUST00000001809.12 ENSMUST00000001809.13 ENSMUST00000001809.14 ENSMUST00000001809.2 ENSMUST00000001809.3 ENSMUST00000001809.4 ENSMUST00000001809.5 ENSMUST00000001809.6 ENSMUST00000001809.7 ENSMUST00000001809.8 ENSMUST00000001809.9 NM_008774 P29341 PABP1_MOUSE Pabp1 Q99L36 uc007vmx.1 uc007vmx.2 uc007vmx.3 uc007vmx.4 Binds the poly(A) tail of mRNA, including that of its own transcript, and regulates processes of mRNA metabolism such as pre-mRNA splicing and mRNA stability. Its function in translational initiation regulation can either be enhanced by PAIP1 or repressed by PAIP2. Can probably bind to cytoplasmic RNA sequences other than poly(A) in vivo. Binds to N6-methyladenosine (m6A)-containing mRNAs and contributes to MYC stability by binding to m6A-containing MYC mRNAs. Involved in translationally coupled mRNA turnover. Implicated with other RNA- binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. Involved in regulation of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons; for the recognition of premature termination codons (PTC) and initiation of NMD a competitive interaction between UPF1 and PABPC1 with the ribosome-bound release factors is proposed. By binding to long poly(A) tails, may protect them from uridylation by ZCCHC6/ZCCHC11 and hence contribute to mRNA stability. May form homodimers. Component of a multisubunit autoregulatory ribonucleoprotein complex (ARC), at least composed of IGF2BP1, PABPC1 and CSDE1. Directly interacts with IGF2BP1. Part of a complex associated with the FOS mCRD domain and consisting of HNRPD, SYNCRIP, PAIP1 and CSDE1/UNR. Interacts with PAIP1 and PAIP2 (via the PABPC1-interacting motifs PAM1 and PAM2). Interacts with PAIP1 with a 1:1 stoichiometry and with PAIP2 with a 1:2 stoichiometry (By similarity). The interaction with CSDE1 is direct and RNA-independent (PubMed:15314026). Found in a mRNP complex with YBX2 (PubMed:10076007). Interacts with TENT2/GLD2 (PubMed:17927953). Identified in the spliceosome C complex. Identified in a mRNP complex, at least composed of DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1. The interaction with DDX3X is direct and RNA-independent. This interaction increases in stressed cells and decreases during cell recovery. Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs. Interacts with NXF1/TAP (By similarity). Interacts with PIWIL1 (PubMed:19020299). Interacts with AGO1, AGO2, GSPT1 and GSPT2. Interacts with LARP4B. Interacts (via the second and third RRM domains and the C-terminus) with PAIP2B (via central acidic portion and C-terminus). Forms a complex with LARP1 and SHFL. Interacts with LARP4. Interacts with ZFC3H1 in a RNase-sensitive manner. Interacts with TRIM71 (via NHL repeats) in an RNA-dependent manner. Interacts with TENT5C; the interaction has no effect on TENT5C poly(A) polymerase function. Interacts with G3BP1 and G3BP2 (By similarity). Interacts with ENDOV; the interaction is RNA-dependent and stimulates ENDOV activity (By similarity). Interacts with UPF1; the interaction is RNA-dependent (By similarity). Interacts with IGF2BP2 and IGF2BP3. May interact with SETX. Interacts with RBM46 (PubMed:36001654). Interacts with PAN3 isoform 1/Pan3L and isoform 3/Pan3S (via N-terminus); interaction with isoform 1 is less efficient than with isoform 3 (By similarity). Cytoplasm Cytoplasm, Stress granule Nucleus Cell projection, lamellipodium Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs (By similarity). Shuttles between the cytoplasm and the nucleus (By similarity). During stress and in the absence of DDX3X, localizes to the nucleus (By similarity). At the leading edge of migrating fibroblasts, colocalizes with DDX3X (By similarity). Relocalizes to cytoplasmic stress granules upon cellular stress where it colocalizes with ENDOV (By similarity). The RNA-binding domains RRM1 and RRM2 and the C-terminus (last 138 amino acids) regions interact respectively with the PABPC1- interacting motif-1 (PAM1) and -2 (PAM2) of PAIP1, respectively. The RNA-binding domains RRM2 and RRM3 and the C-terminus (last 138 amino acids) regions interact with the PABPC1-interacting motif-1 (PAM1) and -2 (PAM2) of PAIP2, respectively. Phosphorylated by MAPKAPK2. Methylated by CARM1. Arg-493 is dimethylated, probably to asymmetric dimethylarginine (By similarity). Belongs to the polyadenylate-binding protein type-1 family. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay nucleic acid binding RNA binding mRNA binding mRNA 3'-UTR binding protein binding nucleus spliceosomal complex cytoplasm cytosol mRNA processing protein C-terminus binding poly(A) binding poly(U) RNA binding RNA splicing cytoplasmic stress granule dendrite gene silencing by RNA cytoplasmic ribonucleoprotein granule positive regulation of viral genome replication synapse positive regulation of nuclear-transcribed mRNA poly(A) tail shortening catalytic step 2 spliceosome positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay messenger ribonucleoprotein complex ribonucleoprotein complex negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay uc007vmx.1 uc007vmx.2 uc007vmx.3 uc007vmx.4 
ENSMUST00000001812.5 Smo ENSMUST00000001812.5 smoothened, frizzled class receptor (from RefSeq NM_176996.5) ENSMUST00000001812.1 ENSMUST00000001812.2 ENSMUST00000001812.3 ENSMUST00000001812.4 NM_176996 Q4VBD5 Q4VBD5_MOUSE Smo uc009bef.1 uc009bef.2 uc009bef.3 uc009bef.4 Cell membrane ; Multi-pass membrane protein Cell projection, cilium Membrane ; Multi-pass membrane protein Belongs to the G-protein coupled receptor Fz/Smo family. Lacks conserved residue(s) required for the propagation of feature annotation. transmembrane signaling receptor activity patched binding Golgi apparatus plasma membrane caveola cell surface receptor signaling pathway smoothened signaling pathway multicellular organism development drug binding positive regulation of gene expression membrane integral component of membrane positive regulation of cell migration intracellular membrane-bounded organelle detection of cell density by contact stimulus involved in contact inhibition renal system development uc009bef.1 uc009bef.2 uc009bef.3 uc009bef.4 
ENSMUST00000001818.5 Crnkl1 ENSMUST00000001818.5 crooked neck pre-mRNA splicing factor 1 (from RefSeq NM_025820.3) CRNL1_MOUSE ENSMUST00000001818.1 ENSMUST00000001818.2 ENSMUST00000001818.3 ENSMUST00000001818.4 NM_025820 P63154 Q542E8 Q9CQC1 uc008mrz.1 uc008mrz.2 uc008mrz.3 Involved in pre-mRNA splicing process. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre- mRNAs. Identified in the spliceosome C complex. Present in a spliceosome complex assembled in vitro containing CRNKL1, HPRP8BP and SNRPB2 (By similarity). Component of the minor spliceosome, which splices U12-type introns (By similarity). Interacts with PPIL2 (via the PPIase cyclophilin-type domain); they may form a trimeric complex with HSP90 (PubMed:15189447). Nucleus Nucleus speckle Note=Colocalizes with core spliceosomal snRNP proteins. Belongs to the crooked-neck family. spliceosomal complex assembly mRNA splicing, via spliceosome Prp19 complex RNA binding nucleus spliceosomal complex RNA processing mRNA processing RNA splicing nuclear speck U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome post-mRNA release spliceosomal complex uc008mrz.1 uc008mrz.2 uc008mrz.3 
ENSMUST00000001824.7 Folh1 ENSMUST00000001824.7 folate hydrolase 1, transcript variant 1 (from RefSeq NM_016770.3) ENSMUST00000001824.1 ENSMUST00000001824.2 ENSMUST00000001824.3 ENSMUST00000001824.4 ENSMUST00000001824.5 ENSMUST00000001824.6 FOLH1_MOUSE Mopsm NM_016770 Naalad1 O35409 Q0VDM5 Q9DCC2 uc009ifh.1 uc009ifh.2 uc009ifh.3 uc009ifh.4 Has both folate hydrolase and N-acetylated-alpha-linked- acidic dipeptidase (NAALADase) activity. Has a preference for tri- alpha-glutamate peptides (By similarity). In the intestine, required for the uptake of folate. In the brain, modulates excitatory neurotransmission through the hydrolysis of the neuropeptide, N- aceylaspartylglutamate (NAAG), thereby releasing glutamate. Also exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC. Reaction=Release of an unsubstituted, C-terminal glutamyl residue, typically from Ac-Asp-Glu or folylpoly-gamma-glutamates.; EC=3.4.17.21; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 2 Zn(2+) ions per subunit. Required for NAALADase activity.; The NAALADase and folate hydrolase activities are inhibited by quisqualic acid. Homodimer. Cell membrane ; Single-pass type II membrane protein Expressed predominantly in the hippocampal region of the brain and in kidney. Lower levels in the ovary, testis and mandibular gland. The NAALADase activity is found in the central region, the dipeptidyl peptidase IV type activity in the C-terminal. Belongs to the peptidase M28 family. M28B subfamily. There are amino acid differences between the sequence shown in fig.1 (PubMed:11210180) and the sequence deposited in the database (AF026380). The sequence from fig.1 shows only 3 conflicts between PubMed:11210180 and PubMed:16141072. These are at AA positions 141, 240 and 287. catalytic activity carboxypeptidase activity metallocarboxypeptidase activity plasma membrane integral component of plasma membrane proteolysis folic acid-containing compound metabolic process metabolic process peptidase activity metallopeptidase activity cell surface membrane integral component of membrane hydrolase activity dipeptidase activity C-terminal protein deglutamylation positive regulation of apoptotic process metal ion binding Ac-Asp-Glu binding tetrahydrofolyl-poly(glutamate) polymer binding uc009ifh.1 uc009ifh.2 uc009ifh.3 uc009ifh.4 
ENSMUST00000001825.9 Chordc1 ENSMUST00000001825.9 cysteine and histidine rich domain containing 1 (from RefSeq NM_025844.2) CHRD1_MOUSE Chp1 ENSMUST00000001825.1 ENSMUST00000001825.2 ENSMUST00000001825.3 ENSMUST00000001825.4 ENSMUST00000001825.5 ENSMUST00000001825.6 ENSMUST00000001825.7 ENSMUST00000001825.8 Morgana NM_025844 Q9CSI5 Q9D1P4 uc009ogm.1 uc009ogm.2 uc009ogm.3 Regulates centrosome duplication, probably by inhibiting the kinase activity of ROCK2 (PubMed:20230755). Proposed to act as co- chaperone for HSP90 (PubMed:16083881). May play a role in the regulation of NOD1 via a HSP90 chaperone complex (PubMed:16083881). In vitro, has intrinsic chaperone activity (PubMed:20230755). This function may be achieved by inhibiting association of ROCK2 with NPM1 (PubMed:20230755). Plays a role in ensuring the localization of the tyrosine kinase receptor EGFR to the plasma membrane, and thus ensures the subsequent regulation of EGFR activity and EGF-induced actin cytoskeleton remodeling (By similarity). Involved in stress response (PubMed:20493909). Prevents tumorigenesis (By similarity). Interacts with HSP90AA1, HSP90AB1 and PPP5C. Interacts with ROCK1 and ROCK2 (By similarity). Ubiquitously expressed. Highly expressed in spleen, lung and brain (at protein level). Expressed in proliferating myoblasts and its expression remained steady after. Its expression undergoes diurnal and circadian changes in hypothalamus. Highly expressed during the dark-light transition (ZT20.5 (zeitgeber time 20.5) and ZT2.5). Weakly expressed at ZT8.5 and highly expressed at ZT14.5 at P6. At P6 highly expressed at ZT14.5 in hippocampus, prefrontal cortex and cerebellum. First detected and widely distributed at P1 and that continued throughout postnatal development. Expression is evident in the cortical plate (CP) at 17 dpc. Lower levels of expression is also evident in intermediate (IZ) and subventricular (SVZ) zones at this age. A more diffuse expression pattern is evident in early postnatal cortex with only slight differences in intensity throughout cortical layers. By P14, a more laminated distribution pattern becomes evident with a punctate distribution apparent in deep cortical layers. By Heat shock in a HSF1-dependent manner. Results in centrosome amplification and lethality. Cells become polyploid or undergo apoptosis. Embryos are no longer detected after 3.5 dpc. protein binding ATP binding zinc ion binding regulation of centrosome duplication ADP binding metal ion binding Hsp90 protein binding chaperone-mediated protein folding regulation of cellular response to heat negative regulation of Rho-dependent protein serine/threonine kinase activity calcium ion binding uc009ogm.1 uc009ogm.2 uc009ogm.3 
ENSMUST00000001834.4 Rtcb ENSMUST00000001834.4 RNA 2',3'-cyclic phosphate and 5'-OH ligase (from RefSeq NM_145422.4) D10Wsu52e ENSMUST00000001834.1 ENSMUST00000001834.2 ENSMUST00000001834.3 NM_145422 Q3TA04 Q3TI25 Q3UDW6 Q99LF4 RTCB_MOUSE Rtcb uc007gni.1 uc007gni.2 uc007gni.3 Catalytic subunit of the tRNA-splicing ligase complex that acts by directly joining spliced tRNA halves to mature-sized tRNAs by incorporating the precursor-derived splice junction phosphate into the mature tRNA as a canonical 3',5'-phosphodiester. May act as an RNA ligase with broad substrate specificity, and may function toward other RNAs (By similarity). Essential during post-implantation development of embryos. Reaction=a 3'-end 3'-phospho-ribonucleotide-RNA + a 5'-end dephospho- ribonucleoside-RNA + GTP = a ribonucleotidyl-ribonucleotide-RNA + diphosphate + GMP; Xref=Rhea:RHEA:68076, Rhea:RHEA-COMP:10463, Rhea:RHEA-COMP:13936, Rhea:RHEA-COMP:17355, ChEBI:CHEBI:33019, ChEBI:CHEBI:37565, ChEBI:CHEBI:58115, ChEBI:CHEBI:83062, ChEBI:CHEBI:138284, ChEBI:CHEBI:173118; EC=6.5.1.8; Evidence=; Reaction=a 3'-end 2',3'-cyclophospho-ribonucleotide-RNA + a 5'-end dephospho-ribonucleoside-RNA + GTP + H2O = a ribonucleotidyl- ribonucleotide-RNA + diphosphate + GMP + H(+); Xref=Rhea:RHEA:68080, Rhea:RHEA-COMP:10464, Rhea:RHEA-COMP:13936, Rhea:RHEA-COMP:17355, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:37565, ChEBI:CHEBI:58115, ChEBI:CHEBI:83064, ChEBI:CHEBI:138284, ChEBI:CHEBI:173118; EC=6.5.1.8; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 manganese ions per subunit. Catalytic component of the tRNA-splicing ligase complex. Nucleus Cytoplasm Note=Enters into the nucleus in case of active transcription while it accumulates in cytosol when transcription level is low. Ubiquitously expressed. Highly expressed in the epididymis with predominant enrichment in the initial segment. During sexual maturation, it is expressed in the caput epididymides. Down-regulated in the epididymis upon castration. Ligation probably proceeds through 3 nucleotidyl transfer steps, with 2',3'-cyclic phosphate termini being hydrolyzed to 3'-P termini in a step that precedes 3'-P activation with GMP. In the first nucleotidyl transfer step, RTCB reacts with GTP to form a covalent RTCB-histidine-GMP intermediate with release of PPi; in the second step, the GMP moiety is transferred to the RNA 3'-P; in the third step, the 5'-OH from the opposite RNA strand attacks the activated 3'-P to form a 3',5'-phosphodiester bond and release GMP. Belongs to the RtcB family. nucleotide binding tRNA exon ligation utilizing 2',3' cyclic phosphate of 5'-exon as source of linkage phosphate in utero embryonic development placenta development RNA ligase (ATP) activity ATP binding nucleus nuclear envelope nucleoplasm cytoplasm endoplasmic reticulum membrane cytosol tRNA splicing, via endonucleolytic cleavage and ligation RNA processing tRNA processing RNA ligase activity ligase activity vinculin binding intracellular membrane-bounded organelle metal ion binding tRNA-splicing ligase complex uc007gni.1 uc007gni.2 uc007gni.3 
ENSMUST00000001836.11 Pwp1 ENSMUST00000001836.11 PWP1 homolog, endonuclein (from RefSeq NM_133993.3) ENSMUST00000001836.1 ENSMUST00000001836.10 ENSMUST00000001836.2 ENSMUST00000001836.3 ENSMUST00000001836.4 ENSMUST00000001836.5 ENSMUST00000001836.6 ENSMUST00000001836.7 ENSMUST00000001836.8 ENSMUST00000001836.9 NM_133993 PWP1_MOUSE Q99LL5 Q9D6T6 uc007gnd.1 uc007gnd.2 uc007gnd.3 uc007gnd.4 Chromatin-associated factor that regulates transcription (By similarity). Regulates Pol I-mediated rRNA biogenesis and, probably, Pol III-mediated transcription (By similarity). Regulates the epigenetic status of rDNA (By similarity). Associates with the RNA polymerase (Pol I) complex. Interacts with POLR1E. Nucleus Nucleus, nucleolus Chromosome Note=Associates with chromatin regions of rDNA. Belongs to the WD repeat PWP1 family. nucleus chromosome nucleolus Golgi apparatus negative regulation of peptidyl-serine phosphorylation of STAT protein histone H4-K20 trimethylation ribosome biogenesis positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter H4K20me3 modified histone binding positive regulation of stem cell differentiation uc007gnd.1 uc007gnd.2 uc007gnd.3 uc007gnd.4 
ENSMUST00000001845.13 Capns1 ENSMUST00000001845.13 Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Essential for embryonic development (PubMed:10825211). (from UniProt O88456) A0A0R4IZW8 BC090988 CPNS1_MOUSE Capn4 D3YW48 ENSMUST00000001845.1 ENSMUST00000001845.10 ENSMUST00000001845.11 ENSMUST00000001845.12 ENSMUST00000001845.2 ENSMUST00000001845.3 ENSMUST00000001845.4 ENSMUST00000001845.5 ENSMUST00000001845.6 ENSMUST00000001845.7 ENSMUST00000001845.8 ENSMUST00000001845.9 O88456 Q3V0X5 Q5BKQ2 Q8CEI2 Q8VEK4 Q9R1C5 uc009gdr.1 uc009gdr.2 uc009gdr.3 Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction. Essential for embryonic development (PubMed:10825211). Homodimer or heterodimer of a large (catalytic) and a small (regulatory) subunit. In presence of calcium, the heterodimer dissociates (By similarity). Cytoplasm Cell membrane Note=Translocates to the plasma membrane upon calcium binding. The contact of the 5th EF-hand domain from each monomer allows the formation of the homodimer and also appears to mediate the contact between the large catalytic subunit and small regulatory subunit for the formation of the heterodimer. EF-hand domains are paired. EF-hand 1 is paired with EF-hand 2 and EF-hand 3 is paired with EF-hand 4. The fifth EF-hand domain, left unpaired, does not bind the calcium but is responsible of the dimerization by EF-embrace. The first four EF-hand domains bind calcium, however it is not sure if the binding of EF-hand 4 to calcium is physiologically relevant. Embryonic lethality by 11.5 dpc, with indications of defects in both vasculogenesis and erythropoiesis. calcium-dependent cysteine-type endopeptidase activity calcium ion binding protein binding cytoplasm cytosol plasma membrane proteolysis membrane metal ion binding protein heterodimerization activity uc009gdr.1 uc009gdr.2 uc009gdr.3 
ENSMUST00000001854.12 Slc7a10 ENSMUST00000001854.12 solute carrier family 7 (cationic amino acid transporter, y+ system), member 10 (from RefSeq NM_017394.4) AAA1_MOUSE Asc1 ENSMUST00000001854.1 ENSMUST00000001854.10 ENSMUST00000001854.11 ENSMUST00000001854.2 ENSMUST00000001854.3 ENSMUST00000001854.4 ENSMUST00000001854.5 ENSMUST00000001854.6 ENSMUST00000001854.7 ENSMUST00000001854.8 ENSMUST00000001854.9 NM_017394 P63115 Q9CW25 Q9JMH8 uc009gjn.1 uc009gjn.2 uc009gjn.3 uc009gjn.4 Associates with SLC3A2/4F2hc to form a functional heterodimeric complex that translocates small neutral L- and D-amino acids across the plasma membrane. Preferentially mediates exchange transport, but can also operate via facilitated diffusion (PubMed:10734121) (By similarity). Acts as a major transporter for glycine, L- and D-serine in the central nervous system. At the spinal cord and brainstem regulates glycine metabolism and glycinergic inhibitory neurotransmission by providing for glycine de novo synthesis from L-serine and glycine recycling from astrocytes to glycinergic motor neurons (PubMed:25755256, PubMed:27759100). At Schaffer collateral-CA1 synapses mediates D-serine and glycine release that modulates post-synaptic activation of NMDA receptors and excitatory glutamatergic transmission (By similarity). May regulate D-serine release from mesenchymal progenitors located in developing subcutaneous adipose tissue, favoring white adipocyte over thermogenic beige adipocyte lineage commitment (PubMed:33707431). Reaction=glycine(out) + L-alanine(in) = glycine(in) + L-alanine(out); Xref=Rhea:RHEA:74019, ChEBI:CHEBI:57305, ChEBI:CHEBI:57972; Evidence=; Reaction=L-alanine(in) + L-serine(out) = L-alanine(out) + L-serine(in); Xref=Rhea:RHEA:74023, ChEBI:CHEBI:33384, ChEBI:CHEBI:57972; Evidence=; Reaction=L-alanine(in) + L-threonine(out) = L-alanine(out) + L- threonine(in); Xref=Rhea:RHEA:74027, ChEBI:CHEBI:57926, ChEBI:CHEBI:57972; Evidence=; Reaction=L-alanine(in) + L-cysteine(out) = L-alanine(out) + L- cysteine(in); Xref=Rhea:RHEA:74031, ChEBI:CHEBI:35235, ChEBI:CHEBI:57972; Evidence=; Reaction=2-aminoisobutanoate(out) + L-alanine(in) = 2- aminoisobutanoate(in) + L-alanine(out); Xref=Rhea:RHEA:74063, ChEBI:CHEBI:57972, ChEBI:CHEBI:193090; Evidence=; Reaction=D-serine(out) + L-alanine(in) = D-serine(in) + L-alanine(out); Xref=Rhea:RHEA:74035, ChEBI:CHEBI:35247, ChEBI:CHEBI:57972; Evidence=; Reaction=D-alanine(out) + L-alanine(in) = D-alanine(in) + L- alanine(out); Xref=Rhea:RHEA:74039, ChEBI:CHEBI:57416, ChEBI:CHEBI:57972; Evidence=; Reaction=L-alanine(in) + L-valine(out) = L-alanine(out) + L-valine(in); Xref=Rhea:RHEA:74047, ChEBI:CHEBI:57762, ChEBI:CHEBI:57972; Evidence=; Reaction=L-alanine(in) + L-methionine(out) = L-alanine(out) + L- methionine(in); Xref=Rhea:RHEA:74043, ChEBI:CHEBI:57844, ChEBI:CHEBI:57972; Evidence=; Reaction=beta-alanine(out) + L-alanine(in) = beta-alanine(in) + L- alanine(out); Xref=Rhea:RHEA:74059, ChEBI:CHEBI:57966, ChEBI:CHEBI:57972; Evidence=; Reaction=D-cysteine(out) + L-alanine(in) = D-cysteine(in) + L- alanine(out); Xref=Rhea:RHEA:74055, ChEBI:CHEBI:35236, ChEBI:CHEBI:57972; Evidence=; Reaction=D-threonine(out) + L-alanine(in) = D-threonine(in) + L- alanine(out); Xref=Rhea:RHEA:74051, ChEBI:CHEBI:57757, ChEBI:CHEBI:57972; Evidence=; Reaction=D-isoleucine(out) + D-serine(in) = D-isoleucine(in) + D- serine(out); Xref=Rhea:RHEA:74299, ChEBI:CHEBI:35247, ChEBI:CHEBI:193151; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:74300; Evidence=; Reaction=D-serine(in) = D-serine(out); Xref=Rhea:RHEA:29455, ChEBI:CHEBI:35247; Evidence=; Kinetic parameters: KM=23 uM for L-alanine ; KM=7.8 uM for glycine ; KM=11.3 uM for L-serine ; KM=19.3 uM for L-threonine ; KM=23.7 uM for L-cysteine ; KM=112 uM for L-valine ; KM=139 uM for L-methionine ; KM=160 uM for L-isoleucine ; KM=245 uM for L-leucine ; KM=368 uM for L-histidine ; KM=464 uM for L-phenylalanine ; KM=22.7 uM for 2-aminoisobutanoate ; KM=100 uM for D-alanine ; KM=52 uM for D-serine ; KM=281 uM for beta-alanine ; pH dependence: Active from pH 5.5 to 8.5. ; Disulfide-linked heterodimer with the amino acid transport protein SLC3A2/4F2hc. Cell membrane ulti-pass membrane protein Note=Colocalizes with OLIG2 in astrocytic processes (PubMed:34749773). Localizes to the plasma membrane in mature adipocytes and to intracellular structures in preadipocytes (PubMed:33707431). Highly expressed in brain and lung, and to a lesser extent in placenta and small intestine (PubMed:10734121). Expressed in a subpopulation of astrocytes enriched at glycinergic synapses in the spinal cord and brainstem (at protein level). Expressed in OLIG2- positive astrocytes of the lateral globus pallidus (at protein level) (PubMed:27759100, PubMed:34749773). Expressed in CD34-positive, DPP4- positive mesenchymal progenitors in developing subcutaneous adipose tissue (PubMed:33707431). Up-regulated upon adipocyte differentiation in response to INS. Down-regulated by treatment with rosiglitazone. Mutant mice develop hyperekplexia-like phenotype due to impaired glycinergic inhibitory transmission. Administration of glycine and L-serine reverses the phenotype. Belongs to the amino acid-polyamine-organocation (APC) superfamily. protein binding integral component of plasma membrane amino acid transport neutral amino acid transmembrane transporter activity L-amino acid transmembrane transporter activity neutral amino acid transport membrane integral component of membrane transmembrane transporter activity D-alanine transport D-serine transport neuronal cell body transmembrane transport apical dendrite L-alpha-amino acid transmembrane transport uc009gjn.1 uc009gjn.2 uc009gjn.3 uc009gjn.4 
ENSMUST00000001872.5 Hoxd13 ENSMUST00000001872.5 homeobox D13 (from RefSeq NM_008275.4) A2ASM5 ENSMUST00000001872.1 ENSMUST00000001872.2 ENSMUST00000001872.3 ENSMUST00000001872.4 HXD13_MOUSE Hox-4.8 NM_008275 P70217 Q2VPB0 Q2VPB1 Q64177 uc008kdu.1 uc008kdu.2 uc008kdu.3 Sequence-specific transcription factor that binds gene promoters and activates their transcription (PubMed:23995701). Part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis (By similarity). Nucleus Belongs to the Abd-B homeobox family. It is uncertain whether Met-1 or Met-9 is the initiator. RNA polymerase II core promoter proximal region sequence-specific DNA binding enhancer sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding skeletal system development DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated multicellular organism development pattern specification process anterior/posterior pattern specification gland morphogenesis embryonic limb morphogenesis male genitalia development prostate gland development response to testosterone limb morphogenesis regulation of cell proliferation embryonic digit morphogenesis sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter embryonic hindgut morphogenesis prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis morphogenesis of an epithelial fold branch elongation of an epithelium regulation of branching involved in prostate gland morphogenesis sequence-specific double-stranded DNA binding uc008kdu.1 uc008kdu.2 uc008kdu.3 
ENSMUST00000001878.6 Hoxd12 ENSMUST00000001878.6 homeobox D12 (from RefSeq NM_008274.3) ENSMUST00000001878.1 ENSMUST00000001878.2 ENSMUST00000001878.3 ENSMUST00000001878.4 ENSMUST00000001878.5 HXD12_MOUSE Hox-4.7 Hoxd-12 NM_008274 P23812 Q8BSN0 uc008kdv.1 uc008kdv.2 uc008kdv.3 Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Expressed during development of the posterior part of the body. Belongs to the Abd-B homeobox family. Sequence=CAA41654.1; Type=Erroneous gene model prediction; Evidence=; skeletal system development DNA binding protein binding nucleus transcription factor complex regulation of transcription, DNA-templated multicellular organism development pattern specification process embryonic digit morphogenesis sequence-specific DNA binding uc008kdv.1 uc008kdv.2 uc008kdv.3 
ENSMUST00000001884.14 Clpb ENSMUST00000001884.14 ClpB caseinolytic peptidase B, transcript variant 6 (from RefSeq NR_184442.1) CLPB_MOUSE Clpb ENSMUST00000001884.1 ENSMUST00000001884.10 ENSMUST00000001884.11 ENSMUST00000001884.12 ENSMUST00000001884.13 ENSMUST00000001884.2 ENSMUST00000001884.3 ENSMUST00000001884.4 ENSMUST00000001884.5 ENSMUST00000001884.6 ENSMUST00000001884.7 ENSMUST00000001884.8 ENSMUST00000001884.9 NR_184442 Q60649 Skd3 uc009ipc.1 uc009ipc.2 uc009ipc.3 Functions as a regulatory ATPase and participates in secretion/protein trafficking process. Has ATP-dependent protein disaggregase activity and is required to maintain the solubility of key mitochondrial proteins. Involved in mitochondrial-mediated antiviral innate immunity, activates RIG-I-mediated signal transduction and production of IFNB1 and pro-inflammatory cytokine IL6. Plays a role in granulocyte differentiation. Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence=; Disaggregase activity is inhibited by ADP. Homododecamer when substrate-bound; the homododecamer consists of 2 homohexamers stacked head-to-head via ANK repeat-mediated interactions. The active substrate-bound form is likely to exist in a dynamic equilibrium between homohexamers and homododecamers. Homotetradecamer in the unbound state which is remodeled upon substrate binding into the homododecamer. Interacts with PHB and PHB2. Interacts with MAVS; the interaction is enhanced by Sendai virus infection. Mitochondrion intermembrane space Widely expressed, with highest levels in testis. Also expressed in heart, skeletal muscle and kidney. The ankyrin-repeat region is necessary for ATP-dependent protein disaggregase activity. It plays an important role in stabilizing the substrate-bound homododecamer by mediating contacts between the two homohexamers. Proteolytically cleaved by protease PARL. ATP-dependent protein disaggregase activity is stimulated by PARL-mediated cleavage of the N- terminal autoinhibitory peptide. Belongs to the ClpA/ClpB family. Despite its gene name, this protein differs in domain structure from bacterial clpB. Bacterial clpB contains two AAA modules, one in the N-terminal part of the protein and one in the C-terminal part, separated by a coiled coil, while vertebrate CLPB contains a single C-terminal AAA region and an N-terminal ANK repeat region which is absent from bacterial clpB. nucleotide binding ATP binding mitochondrion hydrolase activity ATPase activity cellular response to heat uc009ipc.1 uc009ipc.2 uc009ipc.3 
ENSMUST00000001900.9 Zdhhc4 ENSMUST00000001900.9 zinc finger, DHHC domain containing 4, transcript variant 1 (from RefSeq NM_028379.5) ENSMUST00000001900.1 ENSMUST00000001900.2 ENSMUST00000001900.3 ENSMUST00000001900.4 ENSMUST00000001900.5 ENSMUST00000001900.6 ENSMUST00000001900.7 ENSMUST00000001900.8 NM_028379 Q8R5E0 Q9D6H5 ZDHC4_MOUSE Zdhhc4 uc009ajz.1 uc009ajz.2 uc009ajz.3 uc009ajz.4 Palmitoyltransferase that could catalyze the addition of palmitate onto protein substrates including the D(2) dopamine receptor DRD2. Reaction=hexadecanoyl-CoA + L-cysteinyl-[protein] = CoA + S- hexadecanoyl-L-cysteinyl-[protein]; Xref=Rhea:RHEA:36683, Rhea:RHEA- COMP:10131, Rhea:RHEA-COMP:11032, ChEBI:CHEBI:29950, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:74151; EC=2.3.1.225; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36684; Evidence=; Endoplasmic reticulum membrane ; Multi-pass membrane protein Golgi apparatus membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein The C-terminal di-lysine motif confers endoplasmic reticulum localization. The DHHC domain is required for palmitoyltransferase activity. Belongs to the DHHC palmitoyltransferase family. endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus protein targeting to membrane membrane integral component of membrane palmitoyltransferase activity transferase activity transferase activity, transferring acyl groups peptidyl-L-cysteine S-palmitoylation protein-cysteine S-palmitoyltransferase activity uc009ajz.1 uc009ajz.2 uc009ajz.3 uc009ajz.4 
ENSMUST00000001920.13 Aif1l ENSMUST00000001920.13 allograft inflammatory factor 1-like (from RefSeq NM_145144.1) AIF1L_MOUSE ENSMUST00000001920.1 ENSMUST00000001920.10 ENSMUST00000001920.11 ENSMUST00000001920.12 ENSMUST00000001920.2 ENSMUST00000001920.3 ENSMUST00000001920.4 ENSMUST00000001920.5 ENSMUST00000001920.6 ENSMUST00000001920.7 ENSMUST00000001920.8 ENSMUST00000001920.9 Iba2 NM_145144 Q8C150 Q9EQX4 uc008jeg.1 uc008jeg.2 uc008jeg.3 Actin-binding protein that promotes actin bundling. May neither bind calcium nor depend on calcium for function (By similarity). Homodimer (Potential). Monomer (By similarity). Cytoplasm, cytoskeleton Cell projection, ruffle membrane ; Peripheral membrane protein ; Cytoplasmic side Note=Colocalizes with F- actin. Partially relocates to membrane ruffles in response to invading bacteria (By similarity). actin binding calcium ion binding cytoplasm cytoskeleton actin filament plasma membrane focal adhesion actin cytoskeleton membrane ruffle membrane macromolecular complex cell projection metal ion binding actin filament binding actin filament bundle assembly ruffle assembly uc008jeg.1 uc008jeg.2 uc008jeg.3 
ENSMUST00000001921.3 Cpa3 ENSMUST00000001921.3 carboxypeptidase A3, mast cell (from RefSeq NM_007753.2) Cpa3 ENSMUST00000001921.1 ENSMUST00000001921.2 NM_007753 Q542E3 Q542E3_MOUSE uc008osp.1 uc008osp.2 uc008osp.3 uc008osp.4 This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases and preproprotein that is proteolytically processed to generate a mature protein product. This product is released by mast cells and may be involved in the degradation of endogenous proteins and the inactivation of venom-associated peptides. Homozygous knockout mice for this gene exhibit impaired mast cell development. [provided by RefSeq, Aug 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK088906.1, J05118.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164137 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Belongs to the peptidase M14 family. carboxypeptidase activity metallocarboxypeptidase activity proteolysis zinc ion binding uc008osp.1 uc008osp.2 uc008osp.3 uc008osp.4 
ENSMUST00000001950.12 Tollip ENSMUST00000001950.12 toll interacting protein, transcript variant 1 (from RefSeq NM_023764.4) ENSMUST00000001950.1 ENSMUST00000001950.10 ENSMUST00000001950.11 ENSMUST00000001950.2 ENSMUST00000001950.3 ENSMUST00000001950.4 ENSMUST00000001950.5 ENSMUST00000001950.6 ENSMUST00000001950.7 ENSMUST00000001950.8 ENSMUST00000001950.9 NM_023764 Q543N1 Q9D5P5 Q9QZ06 TOLIP_MOUSE uc009kmd.1 uc009kmd.2 uc009kmd.3 Component of the signaling pathway of IL-1 and Toll-like receptors (By similarity). Inhibits cell activation by microbial products (By similarity). Recruits IRAK1 to the IL-1 receptor complex (By similarity). Inhibits IRAK1 phosphorylation and kinase activity. Connects the ubiquitin pathway to autophagy by functioning as a ubiquitin-ATG8 family adapter and thus mediating autophagic clearance of ubiquitin conjugates (By similarity). The TOLLIP-dependent selective autophagy pathway plays an important role in clearance of cytotoxic polyQ proteins aggregates (By similarity). In a complex with TOM1, recruits ubiquitin-conjugated proteins onto early endosomes (By similarity). Binds to phosphatidylinositol 3-phosphate (PtdIns(3)P) (By similarity). Oligomerizes. Binds to TLR2 and the TLR4-MD2 complex via its C-terminus. Exists as complex with IRAK1 in unstimulated cells. Upon IL-1 signaling, Tollip binds to the activated IL-1 receptor complex containing IL-1RI, IL-1RacP and the adapter protein MyD88, where it interacts with the TIR domain of IL-1RacP. MyD88 then triggers IRAK1 autophosphorylation, which in turn leads to the dissociation of IRAK1 from Tollip and IL-1RAcP. Found in a complex with TOM1; interacts (via N-terminus) with TOM1 (via GAT domain); the interactions leads to TOM1- recruitment to endosomes and inhibition of TOLLIP binding to PtdIns(3)P (By similarity). Interacts with TOM1L2 (By similarity). Interacts with ATG8 family proteins (via the AIM motifs), and ubiquitin (via the CUE domain) (By similarity). Interacts with LRBA (By similarity). Q9QZ06; Q61730: Il1rap; NbExp=2; IntAct=EBI-74272, EBI-525035; Q9QZ06; Q62406: Irak1; NbExp=2; IntAct=EBI-74272, EBI-448533; Q9QZ06; O88746: Tom1; NbExp=2; IntAct=EBI-74272, EBI-74264; Cytoplasm Endosome Early endosome Note=Localized to endo/exosomal vesicles. Detected in heart, brain, spleen, lung, liver, skeletal muscle, kidney, thymus, pancreas and testis. Both ATG8-interaction motifs (AIM1 and AIM2) are required for the association with ATG8 family proteins. The N-terminal TOM1-binding domain (residues 1-53) is a disordered domain that partially folds when bound to the GAT domain of TOM1. Belongs to the tollip family. immune system process interleukin-1, Type I receptor binding protein binding cytoplasm ubiquitin-dependent protein catabolic process autophagy inflammatory response signal transduction phosphorylation nuclear body kinase binding epithelial cell differentiation ubiquitin conjugating enzyme binding ubiquitin protein ligase binding SUMO binding positive regulation of protein sumoylation Toll-like receptor binding protein localization to endosome ubiquitin binding innate immune response perinuclear region of cytoplasm uc009kmd.1 uc009kmd.2 uc009kmd.3 
ENSMUST00000001963.14 Ace ENSMUST00000001963.14 angiotensin I converting enzyme, transcript variant 1 (from RefSeq NM_207624.6) Ace ENSMUST00000001963.1 ENSMUST00000001963.10 ENSMUST00000001963.11 ENSMUST00000001963.12 ENSMUST00000001963.13 ENSMUST00000001963.2 ENSMUST00000001963.3 ENSMUST00000001963.4 ENSMUST00000001963.5 ENSMUST00000001963.6 ENSMUST00000001963.7 ENSMUST00000001963.8 ENSMUST00000001963.9 NM_207624 Q3TU20 Q3TU20_MOUSE uc007lxu.1 uc007lxu.2 uc007lxu.3 Soluble form that is released in blood plasma and other body fluids following proteolytic cleavage in the juxtamembrane stalk region. Reaction=H2O + Leu-enkephalin = L-phenylalanyl-L-leucine + L- tyrosylglycylglycine; Xref=Rhea:RHEA:71487, ChEBI:CHEBI:15377, ChEBI:CHEBI:190689, ChEBI:CHEBI:190708, ChEBI:CHEBI:190710; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71488; Evidence=; Reaction=H2O + Met-enkephalin = L-phenylalanyl-L-methionine + L- tyrosylglycylglycine; Xref=Rhea:RHEA:71483, ChEBI:CHEBI:15377, ChEBI:CHEBI:189868, ChEBI:CHEBI:190708, ChEBI:CHEBI:190709; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71484; Evidence=; Reaction=H2O + Met-enkephalin-Arg-Phe = L-arginyl-L-phenylalanine + Met-enkephalin; Xref=Rhea:RHEA:70675, ChEBI:CHEBI:15377, ChEBI:CHEBI:189868, ChEBI:CHEBI:189869, ChEBI:CHEBI:189870; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70676; Evidence=; Reaction=H2O + neurotensin = L-isoleucyl-L-leucine + neurotensin(1-11); Xref=Rhea:RHEA:71475, ChEBI:CHEBI:15377, ChEBI:CHEBI:147362, ChEBI:CHEBI:190704, ChEBI:CHEBI:190706; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71476; Evidence=; Reaction=H2O + substance P = Gly-L-Leu-L-Met-NH2 + substance P(1-8); Xref=Rhea:RHEA:71463, ChEBI:CHEBI:15377, ChEBI:CHEBI:190692, ChEBI:CHEBI:190694, ChEBI:CHEBI:190699; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71464; Evidence=; Reaction=H2O + substance P = L-Leu-L-Met-NH2 + substance P(1-9); Xref=Rhea:RHEA:71459, ChEBI:CHEBI:15377, ChEBI:CHEBI:190692, ChEBI:CHEBI:190693, ChEBI:CHEBI:190700; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71460; Evidence=; Reaction=H2O + substance P = L-Phe-L-Phe-Gly-L-Leu-L-Met-NH2 + substance P(1-6); Xref=Rhea:RHEA:71471, ChEBI:CHEBI:15377, ChEBI:CHEBI:190692, ChEBI:CHEBI:190696, ChEBI:CHEBI:190697; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71472; Evidence=; Reaction=Release of a C-terminal dipeptide, oligopeptide-|-Xaa-Yaa, when Xaa is not Pro, and Yaa is neither Asp nor Glu. Thus, conversion of angiotensin I to angiotensin II, with increase in vasoconstrictor activity, but no action on angiotensin II.; EC=3.4.15.1; Evidence=; Reaction=angiotensin I + H2O = angiotensin II + L-histidyl-L-leucine; Xref=Rhea:RHEA:63560, ChEBI:CHEBI:15377, ChEBI:CHEBI:58506, ChEBI:CHEBI:147350, ChEBI:CHEBI:147392; EC=3.4.15.1; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:63561; Evidence=; Reaction=bradykinin + H2O = bradykinin(1-7) + L-Phe-L-Arg; Xref=Rhea:RHEA:71451, ChEBI:CHEBI:15377, ChEBI:CHEBI:132988, ChEBI:CHEBI:133147, ChEBI:CHEBI:147352; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71452; Evidence=; Reaction=goralatide + H2O = L-lysyl-L-proline + N-acetyl-L-seryl-L- aspartate; Xref=Rhea:RHEA:71455, ChEBI:CHEBI:15377, ChEBI:CHEBI:190701, ChEBI:CHEBI:190702, ChEBI:CHEBI:190703; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71456; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) ions per subunit. ; Name=chloride; Xref=ChEBI:CHEBI:17996; Evidence=; Belongs to the peptidase M2 family. kidney development regulation of systemic arterial blood pressure by renin-angiotensin endopeptidase activity carboxypeptidase activity extracellular space lysosome endosome plasma membrane proteolysis drug binding peptidase activity metallopeptidase activity exopeptidase activity tripeptidyl-peptidase activity peptidyl-dipeptidase activity zinc ion binding external side of plasma membrane membrane integral component of membrane hydrolase activity chloride ion binding mitogen-activated protein kinase kinase binding bradykinin receptor binding hormone catabolic process peptide catabolic process metal ion binding beta-amyloid metabolic process arachidonic acid secretion mitogen-activated protein kinase binding regulation of angiotensin metabolic process extracellular exosome uc007lxu.1 uc007lxu.2 uc007lxu.3 
ENSMUST00000001965.14 Kcnh6 ENSMUST00000001965.14 potassium voltage-gated channel, subfamily H (eag-related), member 6 (from RefSeq NM_001037712.2) ENSMUST00000001965.1 ENSMUST00000001965.10 ENSMUST00000001965.11 ENSMUST00000001965.12 ENSMUST00000001965.13 ENSMUST00000001965.2 ENSMUST00000001965.3 ENSMUST00000001965.4 ENSMUST00000001965.5 ENSMUST00000001965.6 ENSMUST00000001965.7 ENSMUST00000001965.8 ENSMUST00000001965.9 Kcnh6 NM_001037712 Q32ME0 Q32ME0_MOUSE uc007lxx.1 uc007lxx.2 uc007lxx.3 Membrane ; Multi- pass membrane protein ion channel activity inward rectifier potassium channel activity voltage-gated ion channel activity voltage-gated potassium channel activity potassium channel activity integral component of plasma membrane ion transport potassium ion transport membrane integral component of membrane regulation of ion transmembrane transport regulation of membrane potential protein heterooligomerization transmembrane transport potassium ion transmembrane transport uc007lxx.1 uc007lxx.2 uc007lxx.3 
ENSMUST00000001974.11 Trmt1 ENSMUST00000001974.11 tRNA methyltransferase 1, transcript variant 5 (from RefSeq NM_001364176.1) A0A0R4IZW7 A0A0R4IZW7_MOUSE ENSMUST00000001974.1 ENSMUST00000001974.10 ENSMUST00000001974.2 ENSMUST00000001974.3 ENSMUST00000001974.4 ENSMUST00000001974.5 ENSMUST00000001974.6 ENSMUST00000001974.7 ENSMUST00000001974.8 ENSMUST00000001974.9 NM_001364176 Trmt1 uc009mmv.1 uc009mmv.2 uc009mmv.3 uc009mmv.4 tRNA binding RNA binding tRNA (guanine-N2-)-methyltransferase activity tRNA processing methyltransferase activity transferase activity tRNA methylation methylation metal ion binding uc009mmv.1 uc009mmv.2 uc009mmv.3 uc009mmv.4 
ENSMUST00000001975.6 Nacc1 ENSMUST00000001975.6 nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (from RefSeq NM_025788.3) Btbd14b ENSMUST00000001975.1 ENSMUST00000001975.2 ENSMUST00000001975.3 ENSMUST00000001975.4 ENSMUST00000001975.5 NACC1_MOUSE NM_025788 Nac1 Q7TSZ8 Q80X97 Q9CZ72 uc009mmu.1 uc009mmu.2 uc009mmu.3 uc009mmu.4 uc009mmu.5 Functions as a transcriptional repressor. Seems to function as a transcriptional corepressor in neuronal cells through recruitment of HDAC3 and HDAC4. Contributes to tumor progression, and tumor cell proliferation and survival. This may be mediated at least in part through repressing transcriptional activity of GADD45GIP1. Required for recruiting the proteasome from the nucleus to the cytoplasm and dendritic spines. Involved in the acute behavioral and neurological responses to cocaine and amphetamines. Homooligomer; mediated by the BTB domain. Interacts with HDAC3 and HDAC4. Interacts (via BTB domain) with CUL3, PSMD7 and RCOR1 (By similarity). Q7TSZ8; Q8BX22: Sall4; NbExp=4; IntAct=EBI-5691985, EBI-2312582; Nucleus. Cytoplasm. Note=Distribution in the cytoplasm is dependent on phosphorylation. Ubiquitously expressed with higher expression in the brain, kidney and liver, and at lower levels in heart, lung and testes. Mice are viable with no obvious developmental or physiological impairments. In addition, they do not display alterations in chronic responses to cocaine and amphetamine administration, but do however display significantly diminished acute behavioral and neurochemical responses to these drugs. protein binding nucleus nucleoplasm cytoplasm positive regulation of cell proliferation nuclear body cell junction intracellular membrane-bounded organelle negative regulation of transcription, DNA-templated protein homooligomerization uc009mmu.1 uc009mmu.2 uc009mmu.3 uc009mmu.4 uc009mmu.5 
ENSMUST00000001984.5 Ceacam9 ENSMUST00000001984.5 CEA cell adhesion molecule 9 (from RefSeq NM_011927.4) Cea5 Ceacam9 ENSMUST00000001984.1 ENSMUST00000001984.2 ENSMUST00000001984.3 ENSMUST00000001984.4 NM_011927 Q78T27 Q78T27_MOUSE uc009fhz.1 uc009fhz.2 uc009fhz.3 molecular_function cellular_component biological_process uc009fhz.1 uc009fhz.2 uc009fhz.3 
ENSMUST00000002008.7 Vsig2 ENSMUST00000002008.7 V-set and immunoglobulin domain containing 2 (from RefSeq NM_020518.2) Ctm Ctxl ENSMUST00000002008.1 ENSMUST00000002008.2 ENSMUST00000002008.3 ENSMUST00000002008.4 ENSMUST00000002008.5 ENSMUST00000002008.6 NM_020518 Q9CVA4 Q9D0T4 Q9Z109 VSIG2_MOUSE uc009ovb.1 uc009ovb.2 uc009ovb.3 Membrane ; Single-pass type I membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Z109-1; Sequence=Displayed; Name=2; IsoId=Q9Z109-2; Sequence=VSP_014120; Expressed in the stomach, colon and prostate. molecular_function integral component of plasma membrane biological_process membrane integral component of membrane uc009ovb.1 uc009ovb.2 uc009ovb.3 
ENSMUST00000002011.14 Esam ENSMUST00000002011.14 endothelial cell-specific adhesion molecule, transcript variant 2 (from RefSeq NR_136939.1) ENSMUST00000002011.1 ENSMUST00000002011.10 ENSMUST00000002011.11 ENSMUST00000002011.12 ENSMUST00000002011.13 ENSMUST00000002011.2 ENSMUST00000002011.3 ENSMUST00000002011.4 ENSMUST00000002011.5 ENSMUST00000002011.6 ENSMUST00000002011.7 ENSMUST00000002011.8 ENSMUST00000002011.9 ESAM_MOUSE Esam1 NR_136939 Q925F2 uc009ouz.1 uc009ouz.2 uc009ouz.3 uc009ouz.4 Can mediate aggregation most likely through a homophilic molecular interaction. Interacts with MAGI1. Cell junction, adherens junction Cell junction, tight junction Cell membrane ; Single-pass type I membrane protein Highly expressed in the heart and lung. Weakly expressed in the kidney and skin. Expression is restricted to the vascular endothelial cells. Expressed in the kidney, heart and tongue (at protein level). Also expressed on megakaryocytes and activated platelets. Expression in 8.5 dpc-9.5 dpc embryos is observed in embryonic blood vessels including the dorsal aorta, intersomitic arteries and the forming vascular plexus in the head as well as the cardiac outflow tract. By 10.5 dpc-11.5 dpc embryos expression is found in association with the all recognizable blood vessels and in association with cells lining the heart chambers. At 10.5-days embryos expression is associated with syncytiotrophoblasts and cytotrophoblasts as well as endothelial cells associated with blood vessels in the decidua. Expression decreased after mid-gestation from 15.5-day embryos. Up-regulated on the surface of platelets upon activation. plasma membrane cell-cell junction adherens junction bicellular tight junction cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules membrane integral component of membrane calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules cell junction regulation of actin filament polymerization macromolecular complex cellular protein localization bicellular tight junction assembly cell-cell adhesion protein binding involved in cell-cell adhesion regulation of actin cytoskeleton reorganization uc009ouz.1 uc009ouz.2 uc009ouz.3 uc009ouz.4 
ENSMUST00000002013.11 Spa17 ENSMUST00000002013.11 sperm autoantigenic protein 17, transcript variant 1 (from RefSeq NM_011449.3) ENSMUST00000002013.1 ENSMUST00000002013.10 ENSMUST00000002013.2 ENSMUST00000002013.3 ENSMUST00000002013.4 ENSMUST00000002013.5 ENSMUST00000002013.6 ENSMUST00000002013.7 ENSMUST00000002013.8 ENSMUST00000002013.9 NM_011449 Q62252 SP17_MOUSE Sp17 uc009ovd.1 uc009ovd.2 uc009ovd.3 uc009ovd.4 Sperm surface zona pellucida binding protein. Helps to bind spermatozoa to the zona pellucida with high affinity. Might function in binding zona pellucida and carbohydrates (By similarity). Homodimer. May interact with ROPN1 (By similarity). Membrane ; Peripheral membrane protein Testis- and sperm-specific. calmodulin binding cytoplasm cilium binding of sperm to zona pellucida external side of plasma membrane membrane motile cilium sperm fibrous sheath sperm principal piece uc009ovd.1 uc009ovd.2 uc009ovd.3 uc009ovd.4 
ENSMUST00000002029.13 Emd ENSMUST00000002029.13 emerin, transcript variant 13 (from RefSeq NR_176956.1) EMD_MOUSE ENSMUST00000002029.1 ENSMUST00000002029.10 ENSMUST00000002029.11 ENSMUST00000002029.12 ENSMUST00000002029.2 ENSMUST00000002029.3 ENSMUST00000002029.4 ENSMUST00000002029.5 ENSMUST00000002029.6 ENSMUST00000002029.7 ENSMUST00000002029.8 ENSMUST00000002029.9 NR_176956 O08579 Q3TIH6 Q3UJP3 Sta uc009toa.1 uc009toa.2 uc009toa.3 uc009toa.4 Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments. Inhibits beta- catenin activity by preventing its accumulation in the nucleus. Acts by influencing the nuclear accumulation of beta-catenin through a CRM1- dependent export pathway. Links centrosomes to the nuclear envelope via a microtubule association. Required for proper localization of non- farnesylated prelamin-A/C. Together with NEMP1, contributes to nuclear envelope stiffness in germ cells. Interacts with lamins A and C, BANF1, GMCL, BCLAF1 and YTHDC1/YT521. Interacts with TMEM43; the interaction retains emerin in the inner nuclear membrane. Interacts with ACTB, SPTAN1, F-actin, CTNNB1 and beta-tubulin (By similarity). Interacts with SUN1 and SUN2. Interacts with TMEM201. Interacts with NEMP1 (By similarity). Nucleus inner membrane ; Single-pass membrane protein; Nucleoplasmic side Nucleus outer membrane. Note=Colocalized with BANF1 at the central region of the assembling nuclear rim, near spindle-attachment sites. The accumulation of different intermediates of prelamin-A/C (non-farnesylated or carboxymethylated farnesylated prelamin-A/C) in fibroblasts modify its localization in the nucleus (By similarity). In the ovary, highest expression is seen in primordial follicle oocytes (at protein level) (PubMed:32923640). Detected in embryonic fibroblasts, skeletal muscle, heart muscle and tongue epithelium (at protein level). Widely expressed. Early and highly significant depletion of primordial follicles. actin binding protein binding nucleus nuclear envelope nuclear inner membrane nuclear outer membrane nuclear lamina nucleoplasm cytoplasm endoplasmic reticulum spindle microtubule membrane integral component of membrane spindle pole centrosome nuclear membrane cortical endoplasmic reticulum skeletal muscle cell differentiation positive regulation of protein export from nucleus negative regulation of fibroblast proliferation beta-tubulin binding regulation of canonical Wnt signaling pathway cellular response to growth factor stimulus negative regulation of canonical Wnt signaling pathway uc009toa.1 uc009toa.2 uc009toa.3 uc009toa.4 
ENSMUST00000002043.10 Ccdc47 ENSMUST00000002043.10 coiled-coil domain containing 47 (from RefSeq NM_026009.2) Asp4 B1AR94 CCD47_MOUSE Ccdc47 ENSMUST00000002043.1 ENSMUST00000002043.2 ENSMUST00000002043.3 ENSMUST00000002043.4 ENSMUST00000002043.5 ENSMUST00000002043.6 ENSMUST00000002043.7 ENSMUST00000002043.8 ENSMUST00000002043.9 NM_026009 Q3TSB5 Q3V1S7 Q8C5D9 Q920S6 Q9D024 uc007lyi.1 uc007lyi.2 uc007lyi.3 uc007lyi.4 Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes (By similarity). The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (By similarity). Within the MPT complex, the PAT subcomplex sequesters any highly polar regions in the transmembrane domains away from the non-polar membrane environment until they can be buried in the interior of the fully assembled protein (By similarity). Within the PAT subcomplex, CCDC47 occludes the lateral gate of the SEC61 complex (By similarity). Involved in the regulation of calcium ion homeostasis in the ER (By similarity). Required for proper protein degradation via the ERAD (ER- associated degradation) pathway (By similarity). Has an essential role in the maintenance of ER organization during embryogenesis (PubMed:25009997). Component of the PAT complex, composed of WDR83OS/Asterix and CCDC47 (By similarity). The PAT complex is part of the multi-pass translocon (MPT) complex, composed of three subcomplexes, the GEL complex (composed of RAB5IF/OPTI and TMCO1), the BOS complex (composed of NCLN/Nicalin, NOMO1 and TMEM147) and the PAT complex (composed of WDR83OS/Asterix and CCDC47) (By similarity). The MPT complex associates with the SEC61 complex (By similarity). Interacts with VCP, HSPA5, DERL1, DERL2 and SELENOS (PubMed:25009997). Endoplasmic reticulum membrane ; Single-pass type I membrane protein Rough endoplasmic reticulum membrane ; Single-pass type I membrane protein Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9D024-1; Sequence=Displayed; Name=2; IsoId=Q9D024-2; Sequence=VSP_018480; Name=3; IsoId=Q9D024-3; Sequence=VSP_018479; In the embryo, expressed in the endodermal layer of the yolk sac and in the small intestine. CCDC47 knockout leads to embryonic lethality at mid-gestation, between 10.5 and 11.5 dpc. Mutant embryos at 8.5-10.5 dpc reveal several anomalies including vascular abnormalities in yolk sacs, developmental retardation, atrophic neural tubes, dilated left ventricles, poorly developed myocardium, and paucity of blood cells in the dorsal aorta. Yolk sac endoderm cells show alterations associated with endoplasmic reticulum stress, including lipid droplet accumulation, endoplasmic reticulum fragmentation and dissociation of ribosomes. Belongs to the CCDC47 family. calcium ion binding protein binding endoplasmic reticulum endoplasmic reticulum membrane rough endoplasmic reticulum ER overload response endoplasmic reticulum organization post-embryonic development membrane integral component of membrane ER-associated ubiquitin-dependent protein catabolic process rough endoplasmic reticulum membrane endoplasmic reticulum calcium ion homeostasis ERAD pathway calcium ion homeostasis uc007lyi.1 uc007lyi.2 uc007lyi.3 uc007lyi.4 
ENSMUST00000002044.10 Map3k3 ENSMUST00000002044.10 mitogen-activated protein kinase kinase kinase 3 (from RefSeq NM_011947.4) ENSMUST00000002044.1 ENSMUST00000002044.2 ENSMUST00000002044.3 ENSMUST00000002044.4 ENSMUST00000002044.5 ENSMUST00000002044.6 ENSMUST00000002044.7 ENSMUST00000002044.8 ENSMUST00000002044.9 M3K3_MOUSE Mekk3 NM_011947 Q61084 uc007lyc.1 uc007lyc.2 uc007lyc.3 uc007lyc.4 Component of a protein kinase signal transduction cascade. Mediates activation of the NF-kappa-B, AP1 and DDIT3 transcriptional regulators. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.25; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.25; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Activated by phosphorylation on Thr-530. Binds both upstream activators and downstream substrates in multimolecular complexes. Part of a complex with MAP2K3, RAC1 and CCM2. Interacts with MAP2K5 and SPAG9. Q61084; Q9WVS7: Map2k5; NbExp=15; IntAct=EBI-446250, EBI-446144; Q61084; P70196: Traf6; NbExp=5; IntAct=EBI-446250, EBI-448028; Phosphorylation at Ser-166 and Ser-337 by SGK1 inhibits its activity. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK cascade nucleotide binding activation of MAPKK activity blood vessel development protein kinase activity protein serine/threonine kinase activity MAP kinase kinase kinase activity protein binding ATP binding cytoplasm protein phosphorylation kinase activity phosphorylation transferase activity signal transduction by protein phosphorylation activation of protein kinase activity intracellular signal transduction positive regulation of I-kappaB kinase/NF-kappaB signaling protein autophosphorylation metal ion binding positive regulation of cell proliferation in bone marrow positive regulation of cell migration involved in sprouting angiogenesis positive regulation of p38MAPK cascade negative regulation of cellular senescence uc007lyc.1 uc007lyc.2 uc007lyc.3 uc007lyc.4 
ENSMUST00000002048.8 Taco1 ENSMUST00000002048.8 translational activator of mitochondrially encoded cytochrome c oxidase I (from RefSeq NM_027346.2) B1AR86 Ccdc44 ENSMUST00000002048.1 ENSMUST00000002048.2 ENSMUST00000002048.3 ENSMUST00000002048.4 ENSMUST00000002048.5 ENSMUST00000002048.6 ENSMUST00000002048.7 NM_027346 Q3TI86 Q3USS8 Q8K0Z7 Q9CV09 TACO1_MOUSE uc007lyb.1 uc007lyb.2 uc007lyb.3 Acts as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mitochondrion Belongs to the TACO1 family. molecular_function nucleus mitochondrion regulation of translation biological_process uc007lyb.1 uc007lyb.2 uc007lyb.3 
ENSMUST00000002053.9 Npas1 ENSMUST00000002053.9 neuronal PAS domain protein 1, transcript variant 1 (from RefSeq NM_008718.2) ENSMUST00000002053.1 ENSMUST00000002053.2 ENSMUST00000002053.3 ENSMUST00000002053.4 ENSMUST00000002053.5 ENSMUST00000002053.6 ENSMUST00000002053.7 ENSMUST00000002053.8 NM_008718 NPAS1_MOUSE P97459 uc009fhv.1 uc009fhv.2 uc009fhv.3 May control regulatory pathways relevant to schizophrenia and to psychotic illness. May play a role in late central nervous system development by modulating EPO expression in response to cellular oxygen level. Forms a heterodimer that binds core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) leading to transcriptional repression on its target gene TH (PubMed:27782878). Efficient DNA binding requires dimerization with another bHLH protein. Interacts with ARNT; forms a heterodimer that binds core DNA sequence 5'-[AG]CGTG-3' within the hypoxia response element (HRE) leading to a transcriptional repressor on its target gene TH. Nucleus. Expressed in brain in inhibitory interneurons. Also found in spinal cord. First detected between embryonic day 15 and day 16. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II transcription factor activity, sequence-specific DNA binding startle response DNA binding protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter maternal behavior negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity uc009fhv.1 uc009fhv.2 uc009fhv.3 
ENSMUST00000002063.15 Ap4e1 ENSMUST00000002063.15 adaptor-related protein complex AP-4, epsilon 1 (from RefSeq NM_175550.3) A2ASB4 AP4E1_MOUSE Ap4e1 ENSMUST00000002063.1 ENSMUST00000002063.10 ENSMUST00000002063.11 ENSMUST00000002063.12 ENSMUST00000002063.13 ENSMUST00000002063.14 ENSMUST00000002063.2 ENSMUST00000002063.3 ENSMUST00000002063.4 ENSMUST00000002063.5 ENSMUST00000002063.6 ENSMUST00000002063.7 ENSMUST00000002063.8 ENSMUST00000002063.9 NM_175550 Q80V94 uc008men.1 uc008men.2 uc008men.3 Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin- associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal. Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1). Interacts with TEPSIN (By similarity). Interacts with GRIA2; probably indirect it mediates the somatodendritic localization of GRIA2 in neurons (PubMed:18341993). Golgi apparatus, trans-Golgi network membrane ; Peripheral membrane protein Belongs to the adaptor complexes large subunit family. Sequence=AK144636; Type=Frameshift; Evidence=; protein binding Golgi apparatus trans-Golgi network intracellular protein transport protein transport membrane vesicle-mediated transport membrane coat AP-4 adaptor complex uc008men.1 uc008men.2 uc008men.3 
ENSMUST00000002064.15 Blvra ENSMUST00000002064.15 biliverdin reductase A (from RefSeq NM_026678.4) BIEA_MOUSE Blvra ENSMUST00000002064.1 ENSMUST00000002064.10 ENSMUST00000002064.11 ENSMUST00000002064.12 ENSMUST00000002064.13 ENSMUST00000002064.14 ENSMUST00000002064.2 ENSMUST00000002064.3 ENSMUST00000002064.4 ENSMUST00000002064.5 ENSMUST00000002064.6 ENSMUST00000002064.7 ENSMUST00000002064.8 ENSMUST00000002064.9 NM_026678 Q3T9C6 Q80WR6 Q9CY64 Q9DD21 uc008meq.1 uc008meq.2 uc008meq.3 Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor. Uses the reactants NADH or NADPH depending on the pH; NADH is used at the acidic pH range (6-6.9) and NADPH at the alkaline range (8.5-8.7). NADPH, however, is the probable reactant in biological systems. Reaction=bilirubin IXalpha + NAD(+) = biliverdin IXalpha + H(+) + NADH; Xref=Rhea:RHEA:15797, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:57977, ChEBI:CHEBI:57991; EC=1.3.1.24; Evidence=; Reaction=bilirubin IXalpha + NADP(+) = biliverdin IXalpha + H(+) + NADPH; Xref=Rhea:RHEA:15793, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:57977, ChEBI:CHEBI:57991, ChEBI:CHEBI:58349; EC=1.3.1.24; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Porphyrin-containing compound metabolism; protoheme degradation. Monomer. Cytoplasm, cytosol Belongs to the Gfo/Idh/MocA family. Biliverdin reductase subfamily. nucleotide binding biliverdin reductase activity cytoplasm cytosol zinc ion binding oxidoreductase activity heme catabolic process metal ion binding oxidation-reduction process uc008meq.1 uc008meq.2 uc008meq.3 
ENSMUST00000002073.13 Ltbp2 ENSMUST00000002073.13 latent transforming growth factor beta binding protein 2, transcript variant 1 (from RefSeq NM_001370743.1) E9QNQ3 E9QNQ3_MOUSE ENSMUST00000002073.1 ENSMUST00000002073.10 ENSMUST00000002073.11 ENSMUST00000002073.12 ENSMUST00000002073.2 ENSMUST00000002073.3 ENSMUST00000002073.4 ENSMUST00000002073.5 ENSMUST00000002073.6 ENSMUST00000002073.7 ENSMUST00000002073.8 ENSMUST00000002073.9 Ltbp2 NM_001370743 uc011ypc.1 uc011ypc.2 uc011ypc.3 Secreted, extracellular space, extracellular matrix Belongs to the LTBP family. Lacks conserved residue(s) required for the propagation of feature annotation. calcium ion binding uc011ypc.1 uc011ypc.2 uc011ypc.3 
ENSMUST00000002079.7 Plxnb3 ENSMUST00000002079.7 plexin B3 (from RefSeq NM_019587.2) A2AFF9 ENSMUST00000002079.1 ENSMUST00000002079.2 ENSMUST00000002079.3 ENSMUST00000002079.4 ENSMUST00000002079.5 ENSMUST00000002079.6 Kiaa1206 NM_019587 PLXB3_MOUSE Plxn6 Q80TH8 Q9QY40 uc009tmn.1 uc009tmn.2 uc009tmn.3 uc009tmn.4 Receptor for SEMA5A that plays a role in axon guidance, invasive growth and cell migration. Stimulates neurite outgrowth and mediates Ca(2+)/Mg(2+)-dependent cell aggregation. In glioma cells, SEMA5A stimulation of PLXNB3 results in the disassembly of F-actin stress fibers, disruption of focal adhesions and cellular collapse as well as inhibition of cell migration and invasion through ARHGDIA- mediated inactivation of RAC1 (By similarity). Seem to be non-essential for normal development and function of the central nervous system. Binds MET and MST1R. Interacts with RIT2/RIN. May form homodimers (via Sema domain) (By similarity). Interacts (via cytoplasmic domain) with FSCN1, ARHGDIA and RAC1. Q9QY40; Q61553: Fscn1; NbExp=3; IntAct=EBI-6271317, EBI-2308857; Cell membrane ; Single-pass type I membrane protein Note=Colocalizes with RIT2/RIN at the plasma membrane. Expressed in brain (at protein level). In cerebellum, strongest expression detected in Purkinje and granular cells. Detected at very low levels in several fetal tissues, including dorsal root ganglia (DRG), heart, lung, optic bulb, brain and liver. In brain, detected first perinatally, with expression reaching maximal levels at postnatal day 9 (P9). In the developing nervous system, barely detectable until birth, and postnatally expressed in white matter tracks including the corpus callosum, external capsule, fimbria hippocampi and corticospinal tracts. In spinal cord, not detected until birth, and postnatally expressed in spinal white matter. In cerebellum, expressed only in cerebellar white matter cells, with expression detected first shortly after birth in the cerebellar peduncle and increasing progressively in the white matter tracts of the cerebellar lobes until P10. Mutant mice are viable and fertile and display no obvious morphological abnormalities in the brain or spinal cord. Belongs to the plexin family. Sequence=BAC65749.2; Type=Erroneous gene model prediction; Note=Contains intronic sequences.; Evidence=; positive regulation of endothelial cell proliferation semaphorin receptor complex protein binding plasma membrane integral component of plasma membrane homophilic cell adhesion via plasma membrane adhesion molecules negative regulation of cell adhesion signal transduction nervous system development regulation of cell shape cell surface negative regulation of lamellipodium assembly positive regulation of neuron projection development membrane integral component of membrane semaphorin receptor activity protein domain specific binding regulation of cell migration negative regulation of cell migration negative regulation of GTPase activity regulation of GTPase activity positive regulation of axonogenesis positive chemotaxis Rho GDP-dissociation inhibitor binding cell chemotaxis semaphorin-plexin signaling pathway protein binding involved in cell-cell adhesion semaphorin-plexin signaling pathway involved in axon guidance uc009tmn.1 uc009tmn.2 uc009tmn.3 uc009tmn.4 
ENSMUST00000002080.12 Pdzd4 ENSMUST00000002080.12 PDZ domain containing 4, transcript variant 1 (from RefSeq NM_001029868.2) A2AFG4 ENSMUST00000002080.1 ENSMUST00000002080.10 ENSMUST00000002080.11 ENSMUST00000002080.2 ENSMUST00000002080.3 ENSMUST00000002080.4 ENSMUST00000002080.5 ENSMUST00000002080.6 ENSMUST00000002080.7 ENSMUST00000002080.8 ENSMUST00000002080.9 NM_001029868 PDZD4_MOUSE Pdzk4 Pdzrn4l Q6PHP2 Q9QY39 Xlu uc009tmt.1 uc009tmt.2 uc009tmt.3 Cytoplasm, cell cortex Note=Mainly localized under the plasma membrane. Sequence=AAH56462.1; Type=Erroneous initiation; Evidence=; cytoplasm cell cortex protein ubiquitination ubiquitin protein ligase activity uc009tmt.1 uc009tmt.2 uc009tmt.3 
ENSMUST00000002081.6 Srpk3 ENSMUST00000002081.6 serine/arginine-rich protein specific kinase 3, transcript variant 2 (from RefSeq NM_019684.2) ENSMUST00000002081.1 ENSMUST00000002081.2 ENSMUST00000002081.3 ENSMUST00000002081.4 ENSMUST00000002081.5 Mssk1 NM_019684 Q9Z0G2 SRPK3_MOUSE Stk23 uc009tmo.1 uc009tmo.2 uc009tmo.3 uc009tmo.4 Serine/arginine-rich protein-specific kinase which specifically phosphorylates its substrates at serine residues located in regions rich in arginine/serine dipeptides, known as RS domains. Phosphorylates the SR splicing factor SRSF1 and the lamin-B receptor (LBR) in vitro. Required for normal muscle development. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Exclusively expressed in skeletal and heart muscle. Expressed from embryogenesis to adulthood. Mice are viable to adulthood but display defects in skeletal muscle growth including reduced muscle mass, marked increase in centrally placed nuclei and disorganized intermyofibrillar network. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. nucleotide binding spliceosomal complex assembly protein kinase activity protein serine/threonine kinase activity ATP binding nucleus cytoplasm protein phosphorylation multicellular organism development muscle organ development skeletal muscle tissue development regulation of gene expression kinase activity phosphorylation transferase activity cell differentiation intracellular signal transduction regulation of mRNA processing muscle tissue development uc009tmo.1 uc009tmo.2 uc009tmo.3 uc009tmo.4 
ENSMUST00000002084.14 Abcd1 ENSMUST00000002084.14 ATP-binding cassette, sub-family D member 1 (from RefSeq NM_007435.2) ABCD1_MOUSE Abcd1 Ald Aldgh ENSMUST00000002084.1 ENSMUST00000002084.10 ENSMUST00000002084.11 ENSMUST00000002084.12 ENSMUST00000002084.13 ENSMUST00000002084.2 ENSMUST00000002084.3 ENSMUST00000002084.4 ENSMUST00000002084.5 ENSMUST00000002084.6 ENSMUST00000002084.7 ENSMUST00000002084.8 ENSMUST00000002084.9 NM_007435 P48410 Q9QY41 Q9QZ32 uc009tml.1 uc009tml.2 uc009tml.3 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in the human gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC079840.1, AK088792.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)- CoA from the cytosol to the peroxisome lumen. Has fatty acyl-CoA thioesterase (ACOT) and ATPase activities. Coupled to the ATP-dependent transporter activity has also a fatty acyl-CoA thioesterase activity (ACOT) and hydrolyzes VLCFA-CoA into VLCFA prior their ATP-dependent transport into peroxisomes, the ACOT activity is essential during this transport process (By similarity). Thus, plays a role in regulation of VLCFAs and energy metabolism namely, in the degradation and biosynthesis of fatty acids by beta-oxidation, mitochondrial function and microsomal fatty acid elongation (PubMed:9126326, PubMed:9418970, PubMed:9256488, PubMed:18854420, PubMed:23123468, PubMed:23604518, PubMed:25255441, PubMed:25583114, PubMed:26108493). Involved in several processes; namely, controls the active myelination phase by negatively regulating the microsomal fatty acid elongation activity and may also play a role in axon and myelin maintenance (PubMed:11875044, PubMed:15489218, PubMed:26108493). Controls also the cellular response to oxidative stress by regulating mitochondrial functions such as mitochondrial oxidative phosphorylation and depolarization (PubMed:18344354, PubMed:22521832, PubMed:23604518, PubMed:25583114). And finally controls the inflammatory response by positively regulating peroxisomal beta-oxidation of VLCFAs (PubMed:18723473). Reaction=a very long-chain fatty acyl-CoA + H2O = a very long-chain fatty acid + CoA + H(+); Xref=Rhea:RHEA:67072, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:58950, ChEBI:CHEBI:138261; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:67073; Evidence=; Reaction=a very long-chain fatty acid(in) + ATP + H2O = a very long- chain fatty acid(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:67080, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58950, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:67081; Evidence=; Reaction=H2O + tetracosanoyl-CoA = CoA + H(+) + tetracosanoate; Xref=Rhea:RHEA:40787, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:31014, ChEBI:CHEBI:57287, ChEBI:CHEBI:65052; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40788; Evidence=; Reaction=ATP + H2O + tetracosanoate(in) = ADP + H(+) + phosphate + tetracosanoate(out); Xref=Rhea:RHEA:67088, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:31014, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence=; Reaction=H2O + hexacosanoyl-CoA = CoA + H(+) + hexacosanoate; Xref=Rhea:RHEA:40791, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:31013, ChEBI:CHEBI:57287, ChEBI:CHEBI:64868; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40792; Evidence=; Reaction=ATP + H2O + hexacosanoate(in) = ADP + H(+) + hexacosanoate(out) + phosphate; Xref=Rhea:RHEA:67084, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:31013, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:67085; Evidence=; Reaction=docosanoyl-CoA + H2O = CoA + docosanoate + H(+); Xref=Rhea:RHEA:40783, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:23858, ChEBI:CHEBI:57287, ChEBI:CHEBI:65059; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40784; Evidence=; Reaction=ATP + docosanoate(in) + H2O = ADP + docosanoate(out) + H(+) + phosphate; Xref=Rhea:RHEA:67092, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:23858, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence=; Can form homodimers and heterodimers with ABCD2 and ABCD3 (PubMed:15276650). Dimerization is necessary to form an active transporter (By similarity). The minimal functional unit is a homodimer but the major oligomeric form in peroxisomal membrane is a homotetramer. Forms heterotramers with ABCD2 (By similarity). Interacts with PEX19; facilitates ABCD1 insertion into the peroxisome membrane (By similarity). P48410; P33897: ABCD1; Xeno; NbExp=2; IntAct=EBI-81118, EBI-81045; Peroxisome membrane ; Multi-pass membrane protein Mitochondrion membrane ; Multi-pass membrane protein Lysosome membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein Widely expressed at low levels with higher levels in heart, lung, intestine and spleen than in skeletal muscle, brain, liver and kidney. Most abundant in embryo. Gradually decreases during maturation. By dietary fenofibrate. The NH2-terminal transmembrane domaine (TMD) is involved in the recognition of substrates, and undergoes a conformational change upon ATP binding to the COOH-terminal nucleotide binding domain (NBD). Tyrosine-phosphorylated. Abcd1 hemizygous males are viable and apparently healthy and they show no detectable motor defect for at least 4-month- old. Inbreeding homozygous and hemizygous Abcd1-deficient mice show a reduction of fertility. Moreover, among several 6-month-old mice, there is at least one apparently infertile mutant of each sex. The infertile hemizygous male show additionally a severe testicular atrophy (PubMed:9418970). Abcd1 hemizygous mutant male and homozygous mutant mice grow normally, are fer- tile, and appear normal at least up to one year of age (PubMed:9126326). Abcd1 hemizygous mutant male and homozygous mutant mice grow normally, are fer- tile, and appear normal at least up to 6 months of age (PubMed:9256488). At 20 months of age, Abcd1 homozygous mice present an impairment of their locomotor coordination and exploratory abilities (PubMed:11875044, PubMed:15489218). Double Abcd1 and Abcd2 knockout mice exhibit severe impairment of their locomotor coordination and exploratory abilities already at 15 months of age (PubMed:15489218). Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. very long-chain fatty acid metabolic process nucleotide binding regulation of oxidative phosphorylation long-chain fatty acid transporter activity protein binding ATP binding cytoplasm mitochondrion lysosome lysosomal membrane peroxisome peroxisomal membrane integral component of peroxisomal membrane endoplasmic reticulum endoplasmic reticulum membrane fatty acid beta-oxidation peroxisome organization fatty-acyl-CoA transporter activity peroxisomal long-chain fatty acid import fatty-acyl-CoA transport membrane integral component of membrane ATPase activity enzyme binding fatty acid elongation mitochondrial membrane regulation of fatty acid beta-oxidation positive regulation of fatty acid beta-oxidation very long-chain fatty-acyl-CoA catabolic process ATPase activity, coupled to transmembrane movement of substances long-chain fatty acid catabolic process very long-chain fatty acid catabolic process identical protein binding protein homodimerization activity myelin maintenance ADP binding perinuclear region of cytoplasm regulation of mitochondrial depolarization transmembrane transport fatty acid homeostasis sterol homeostasis negative regulation of cytokine production involved in inflammatory response regulation of cellular response to oxidative stress negative regulation of reactive oxygen species biosynthetic process neuron projection maintenance positive regulation of unsaturated fatty acid biosynthetic process uc009tml.1 uc009tml.2 uc009tml.3 
ENSMUST00000002090.3 Ssr4 ENSMUST00000002090.3 signal sequence receptor, delta, transcript variant 2 (from RefSeq NM_009279.5) ENSMUST00000002090.1 ENSMUST00000002090.2 NM_009279 Q62186 SSRD_MOUSE uc009tmr.1 uc009tmr.2 uc009tmr.3 uc009tmr.4 TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. Heterotetramer of TRAP-alpha, TRAP-beta, TRAP-delta and TRAP- gamma. Endoplasmic reticulum membrane ; Single-pass type I membrane protein Belongs to the TRAP-delta family. molecular_function endoplasmic reticulum Sec61 translocon complex endoplasmic reticulum membrane biological_process membrane integral component of membrane uc009tmr.1 uc009tmr.2 uc009tmr.3 uc009tmr.4 
ENSMUST00000002091.6 Bcap31 ENSMUST00000002091.6 B cell receptor associated protein 31, transcript variant 1 (from RefSeq NM_012060.6) A2ALM8 BAP31_MOUSE Bap31 ENSMUST00000002091.1 ENSMUST00000002091.2 ENSMUST00000002091.3 ENSMUST00000002091.4 ENSMUST00000002091.5 NM_012060 Q61335 Q9D0E9 Q9D8G7 uc009tmj.1 uc009tmj.2 uc009tmj.3 uc009tmj.4 Functions as a chaperone protein (PubMed:9396746). Is one of the most abundant endoplasmic reticulum (ER) proteins (PubMed:9396746). Plays a role in the export of secreted proteins in the ER, the recognition of abnormally folded protein and their targeting to the ER associated-degradation (ERAD) (PubMed:9396746). Also serves as a cargo receptor for the export of transmembrane proteins (PubMed:15187134). Plays a role in the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) by stimulating the translocation of NDUFS4 and NDUFB11 from the cytosol to the mitochondria via interaction with TOMM40 (By similarity). In response to ER stress, delocalizes from the ER-mitochondria contact sites and binds BCL2 (By similarity). May be involved in CASP8-mediated apoptosis (By similarity). Homodimer and heterodimer with BCAP29 (PubMed:8612576). Binds CASP8 (isoform 9) as a complex containing BCAP31, BCAP29, BCL2 and/or BCL2L1 (By similarity). Forms a complex (via C-terminus) with TOMM40 which mediates the translocation of components of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) from the cytosol to the mitochondria; within the complex BCAP31 interacts directly with unprocessed and processed NDUFS4 and NDUFB11. Interacts with VDAC1 (By similarity). Interacts with VAMP3, VAMP1 and membrane IgD immunoglobulins (PubMed:9396746). Interacts with HACD2 (By similarity). Interacts with DNM1L; may form part of a larger protein complex at the endoplasmic reticulum-mitochondrial interface during mitochondrial fission (By similarity). Endoplasmic reticulum membrane ; Multi-pass membrane protein Endoplasmic reticulum-Golgi intermediate compartment membrane ; Multi-pass membrane protein Note=May shuttle between the ER and the intermediate compartment/cis-Golgi complex. Associates with the mitochondria- associated endoplasmic reticulum membrane via interaction with TOMM40. Ubiquitous. Cleaved by CASP8 and other caspases. Belongs to the BCAP29/BCAP31 family. Golgi membrane protein binding mitochondrion endoplasmic reticulum endoplasmic reticulum membrane lipid particle integral component of plasma membrane intracellular protein transport ER to Golgi vesicle-mediated transport apoptotic process positive regulation of cytosolic calcium ion concentration spermatogenesis protein transport membrane integral component of membrane vesicle-mediated transport clathrin-coated vesicle negative regulation of endoplasmic reticulum calcium ion concentration Golgi cisterna membrane endoplasmic reticulum-Golgi intermediate compartment membrane calcium-mediated signaling using intracellular calcium source MHC class I protein binding positive regulation of cysteine-type endopeptidase activity involved in apoptotic process macromolecular complex binding positive regulation of mitochondrial calcium ion concentration protein localization to endoplasmic reticulum exit site perinuclear endoplasmic reticulum positive regulation of ER-associated ubiquitin-dependent protein catabolic process positive regulation of retrograde protein transport, ER to cytosol positive regulation of intrinsic apoptotic signaling pathway uc009tmj.1 uc009tmj.2 uc009tmj.3 uc009tmj.4 
ENSMUST00000002095.11 Kmt2a ENSMUST00000002095.11 Histone methyltransferase that plays an essential role in early development and hematopoiesis (By similarity). Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac) (By similarity). Catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place (By similarity). Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity (By similarity). Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9' (By similarity). Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state (By similarity). Required for transcriptional activation of HOXA9 (By similarity). Promotes PPP1R15A-induced apoptosis (By similarity). Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-BMAL1 heterodimer (PubMed:21113167). Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-BMAL1 to chromatin (PubMed:21113167). Also has auto-methylation activity on Cys-3879 in absence of histone H3 substrate (By similarity). (from UniProt P55200) All1 E9QNE7 ENSMUST00000002095.1 ENSMUST00000002095.10 ENSMUST00000002095.2 ENSMUST00000002095.3 ENSMUST00000002095.4 ENSMUST00000002095.5 ENSMUST00000002095.6 ENSMUST00000002095.7 ENSMUST00000002095.8 ENSMUST00000002095.9 Hrx KMT2A_MOUSE L17069 Mll Mll1 P55200 Q3UEU1 Q3USE7 uc009pep.1 uc009pep.2 uc009pep.3 Histone methyltransferase that plays an essential role in early development and hematopoiesis (By similarity). Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac) (By similarity). Catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place (By similarity). Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity (By similarity). Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9' (By similarity). Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state (By similarity). Required for transcriptional activation of HOXA9 (By similarity). Promotes PPP1R15A-induced apoptosis (By similarity). Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-BMAL1 heterodimer (PubMed:21113167). Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-BMAL1 to chromatin (PubMed:21113167). Also has auto-methylation activity on Cys-3879 in absence of histone H3 substrate (By similarity). Reaction=L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60264, Rhea:RHEA-COMP:15543, Rhea:RHEA-COMP:15547, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929; EC=2.1.1.364; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60265; Evidence=; Reaction=N(6)-methyl-L-lysyl(4)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6),N(6)-dimethyl-L-lysyl(4)-[histone H3] + S-adenosyl-L- homocysteine; Xref=Rhea:RHEA:60268, Rhea:RHEA-COMP:15540, Rhea:RHEA- COMP:15543, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929, ChEBI:CHEBI:61976; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60269; Evidence=; Reaction=L-cysteinyl-[protein] + S-adenosyl-L-methionine = H(+) + S- adenosyl-L-homocysteine + S-methyl-L-cysteinyl-[protein]; Xref=Rhea:RHEA:66544, Rhea:RHEA-COMP:10131, Rhea:RHEA-COMP:10132, ChEBI:CHEBI:15378, ChEBI:CHEBI:29950, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:82612; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:66545; Evidence=; MLL cleavage product N320 heterodimerizes with MLL cleavage product C180 (via SET and FYRC domains). Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, HCFC2, WDR5, DPY30 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MEN1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts (via WIN motif) with WDR5; the interaction is direct. Interaction with WDR5 is required for stable interaction with ASH2L and RBBP5, and thereby also for optimal histone methyltransferase activity. Interacts with KAT8/MOF; the interaction is direct. Interacts with SBF1 and PPP1R15A. Interacts with ZNF335 (By similarity). Interacts with CLOCK and BMAL1 in a circadian manner (PubMed:21113167). Interacts with PPIE; this results in decreased histone H3 methyltransferase activity. Interacts with CREBBP (By similarity). Interacts with the WRAD complex composed of WDR5, RBBP5, ASH2L and DPY30 (By similarity). Interacts (via MBM motif) with MEN1 (By similarity). Interacts (via IBM motifs) with PSIP1 (via IBD domain) with moderate affinity whereas the KMT2A- MEN1 complex interacts with a greater affinity; MEN1 enhances interaction of KMT2A with PSIP1 (By similarity). Phosphorylation increases its affinity for PSIP1 (By similarity). Forms a complex with CREBBP and CREB1 (By similarity). Nucleus [MLL cleavage product N320]: Nucleus [MLL cleavage product C180]: Nucleus Note=Localizes to a diffuse nuclear pattern when not associated with MLL cleavage product N320. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P55200-1; Sequence=Displayed; Name=2; IsoId=P55200-2; Sequence=VSP_006667; The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. The SET domain structure is atypical and is not in an optimal position to have methyltransferase activity. It requires other components of the MLL1/MLL complex, such as ASH2L or RBBP5, to order the active site and obtain optimal histone methyltransferase activity. The CXXC-type zinc finger binds to DNA sequence elements containing unmethylated CpG dinucleotides. The third PHD-type zinc-finger binds both trimethylated histone H3K4me3 and PPIE; histone and PPIE bind to distinct surfaces. Nevertheless, PPIE binding and histone binding are mutually inhibitory. Isomerization of a peptidylproline bond in the linker between the third PHD-type zinc-finger and the bromo domain disrupts the interaction between the bromo domain and the third PHD-type zinc-finger, and thereby facilitates interaction with PPIE. Proteolytic cleavage by TASP1 generates MLL cleavage 3product N320 and MLL cleavage product C180, which reassemble through a non-covalent association. 2 cleavage sites exist, cleavage site 1 (CS1) and cleavage site 2 (CS2), to generate MLL cleavage products N320 and C180. CS2 is the major site. Phosphorylation increases its interaction with PSIP1. Auto-methylated at Cys-3879: auto-methylation is inhibited by the WRAD complex and unmodified histone H3. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. TRX/MLL subfamily. Sequence=BAE24386.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; RNA polymerase II distal enhancer sequence-specific DNA binding DNA binding chromatin binding protein binding nucleus nucleoplasm cytosol DNA methylation chromatin organization regulation of transcription, DNA-templated methyltransferase activity zinc ion binding negative regulation of cell proliferation visual learning response to light stimulus post-embryonic development anterior/posterior pattern specification regulation of gene expression transferase activity histone-lysine N-methyltransferase activity peptidyl-lysine monomethylation methylation positive regulation of transporter activity circadian regulation of gene expression histone methyltransferase complex embryonic hemopoiesis exploration behavior response to potassium ion histone methyltransferase activity (H3-K4 specific) identical protein binding protein homodimerization activity histone H4-K16 acetylation transcription regulatory region DNA binding histone H3-K4 dimethylation unmethylated CpG binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding regulation of short-term neuronal synaptic plasticity rhythmic process spleen development homeostasis of number of cells within a tissue cognition histone H3-K4 methylation regulation of histone H3-K4 methylation positive regulation of histone H3-K4 methylation membrane depolarization definitive hemopoiesis macromolecular complex assembly lysine-acetylated histone binding MLL1 complex regulation of histone H3-K14 acetylation histone H3-K4 trimethylation regulation of histone H3-K27 acetylation negative regulation of DNA methylation regulation of histone H3-K9 acetylation positive regulation of cellular response to drug uc009pep.1 uc009pep.2 uc009pep.3 
ENSMUST00000002099.11 Ift46 ENSMUST00000002099.11 Forms part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. May play a role in chondrocyte maturation and skeletogenesis. (from UniProt Q9DB07) AK032880 ENSMUST00000002099.1 ENSMUST00000002099.10 ENSMUST00000002099.2 ENSMUST00000002099.3 ENSMUST00000002099.4 ENSMUST00000002099.5 ENSMUST00000002099.6 ENSMUST00000002099.7 ENSMUST00000002099.8 ENSMUST00000002099.9 IFT46_MOUSE Q91Z06 Q9DB07 Q9JHT1 uc009pek.1 uc009pek.2 uc009pek.3 Forms part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia. May play a role in chondrocyte maturation and skeletogenesis. Component of the IFT complex B, at least composed of IFT20, IFT22, IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT57, IFT88 and DAW1. Interacts with ARL13B. Interacts with IFT56. Interacts with TTC25 (PubMed:25860617). Interacts with IFT70B (PubMed:23810713). Cytoplasm, cytoskeleton, cilium basal body. Cell projection, cilium. Note=Expression is concentrated at the cilium basal body but is also detected along the length of the cilium. Strongly expressed in ovary and testis, moderately expressed in kidney and brain, and weakly expressed in thymus, heart, lung, liver, spleen and muscle. Expressed in embryonic bone and cartilage, with high expression in non-hypertrophic chondrocytes and weaker expression in hypertrophic chondrocytes. Expressed from 8 dpc throughout embryonic development, with levels increasing at 12.5 dpc and remaining constant thereafter. Up-regulated during chondrocyte maturation and skeletogenesis. By BMP2. Short cilia. Belongs to the IFT46 family. protein binding cytoplasm centrosome cytoskeleton cilium smoothened signaling pathway protein transport intraciliary transport particle B motile cilium regulation of protein stability axoneme assembly intraciliary transport cell projection cilium organization ciliary membrane cilium assembly cilium-dependent cell motility ciliary base regulation of cilium assembly uc009pek.1 uc009pek.2 uc009pek.3 
ENSMUST00000002100.8 Tmem25 ENSMUST00000002100.8 transmembrane protein 25, transcript variant 2 (from RefSeq NM_027865.3) ENSMUST00000002100.1 ENSMUST00000002100.2 ENSMUST00000002100.3 ENSMUST00000002100.4 ENSMUST00000002100.5 ENSMUST00000002100.6 ENSMUST00000002100.7 NM_027865 Q3TMP3 Q6PAK7 Q9DCF1 TMM25_MOUSE Tmem25 uc009pem.1 uc009pem.2 uc009pem.3 In neurons, modulates the degradation of NMDA receptor GRIN2B subunit. Plays a role in the regulation of neuronal excitability. Interacts with GRIN2B. Late endosome Lysosome [Isoform 1]: Cell membrane ; Single- pass type I membrane protein [Isoform 2]: Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9DCF1-1; Sequence=Displayed; Name=2; IsoId=Q9DCF1-2; Sequence=VSP_012942; Expressed throughout the brain with higher levels within the hippocampus. molecular_function cellular_component extracellular region plasma membrane biological_process membrane integral component of membrane uc009pem.1 uc009pem.2 uc009pem.3 
ENSMUST00000002101.12 Cd3g ENSMUST00000002101.12 CD3 antigen, gamma polypeptide (from RefSeq NM_009850.2) Cd3g ENSMUST00000002101.1 ENSMUST00000002101.10 ENSMUST00000002101.11 ENSMUST00000002101.2 ENSMUST00000002101.3 ENSMUST00000002101.4 ENSMUST00000002101.5 ENSMUST00000002101.6 ENSMUST00000002101.7 ENSMUST00000002101.8 ENSMUST00000002101.9 NM_009850 Q3U4Y3 Q3U4Y3_MOUSE uc009pex.1 uc009pex.2 uc009pex.3 The TCR-CD3 complex is composed of a CD3D/CD3E and a CD3G/CD3E heterodimers that preferentially associate with TCRalpha and TCRbeta, respectively, to form TCRalpha/CD3E/CD3G and TCRbeta/CD3G/CD3E trimers. In turn, the hexamer interacts with CD3Z homodimer to form the TCR-CD3 complex. Alternatively, TCRalpha and TCRbeta can be replaced by TCRgamma and TCRdelta. transmembrane signaling receptor activity establishment or maintenance of cell polarity cell surface receptor signaling pathway protein transport membrane integral component of membrane protein homodimerization activity protein heterodimerization activity protein homooligomerization regulation of lymphocyte apoptotic process uc009pex.1 uc009pex.2 uc009pex.3 
ENSMUST00000002112.15 Trappc6a ENSMUST00000002112.15 trafficking protein particle complex 6A, transcript variant 1 (from RefSeq NM_025960.4) ENSMUST00000002112.1 ENSMUST00000002112.10 ENSMUST00000002112.11 ENSMUST00000002112.12 ENSMUST00000002112.13 ENSMUST00000002112.14 ENSMUST00000002112.2 ENSMUST00000002112.3 ENSMUST00000002112.4 ENSMUST00000002112.5 ENSMUST00000002112.6 ENSMUST00000002112.7 ENSMUST00000002112.8 ENSMUST00000002112.9 NM_025960 Q3KQP0 Q78XR0 Q8C2C8 Q9CQ27 Q9D8H6 TPC6A_MOUSE Trappc6a uc009fmc.1 uc009fmc.2 uc009fmc.3 May play a role in vesicular transport during the biogenesis of melanosomes. Part of the multisubunit transport protein particle (TRAPP) complex. Heterodimer with TRAPPC3 (By similarity). The heterodimer TRAPPC3-TRAPPC6A interacts with TRAPPC2L. Interacts with TRAPPC2L (By similarity). Golgi apparatus, cis-Golgi network Endoplasmic reticulum Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q78XR0-1; Sequence=Displayed; Name=2; IsoId=Q78XR0-2; Sequence=VSP_019586; Ubiquitous, with lowest expression in skeletal muscle and brain and highest in kidney, liver and testis, as well as in cultured melanocytes. Belongs to the TRAPP small subunits family. BET3 subfamily. endoplasmic reticulum Golgi apparatus cis-Golgi network trans-Golgi network ER to Golgi vesicle-mediated transport vesicle-mediated transport regulation of GTPase activity pigmentation Golgi vesicle transport melanosome assembly uc009fmc.1 uc009fmc.2 uc009fmc.3 
ENSMUST00000002121.5 Supt6 ENSMUST00000002121.5 SPT6, histone chaperone and transcription elongation factor (from RefSeq NM_009297.2) ENSMUST00000002121.1 ENSMUST00000002121.2 ENSMUST00000002121.3 ENSMUST00000002121.4 Kiaa0162 NM_009297 Q5SYM0 Q62383 Q6GQS3 Q6ZQI0 Q8BQY6 SPT6H_MOUSE Supt6h uc007kip.1 uc007kip.2 uc007kip.3 uc007kip.4 Transcription elongation factor which binds histone H3 and plays a key role in the regulation of transcription elongation and mRNA processing. Enhances the transcription elongation by RNA polymerase II (RNAPII) and is also required for the efficient activation of transcriptional elongation by the HIV-1 nuclear transcriptional activator, Tat. Besides chaperoning histones in transcription, acts to transport and splice mRNA by forming a complex with IWS1 and the C- terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2), to ensure proper mRNA splicing, efficient mRNA export and elongation- coupled H3K36 methylation, a signature chromatin mark of active transcription. SUPT6H via its association with SETD1A, regulates both class-switch recombination and somatic hypermutation through formation of H3K4me3 epigenetic marks on activation-induced cytidine deaminase (AICDA) target loci. Promotes the activation of the myogenic gene program by entailing erasure of the repressive H3K27me3 epigenetic mark through stabilization of the chromatin interaction of the H3K27 demethylase KDM6A. Interacts with RNA polymerase II and the DRB sensitivity- inducing factor complex (DSIF complex), which is composed of SUPT5H and SUPT4H1 or SUPT4H2 (By similarity). Interacts with PAAF1 (By similarity). Interacts with histone H2B and H3 (By similarity). Interacts (via SH2 domain) with POLR2A phosphorylated at 'Ser-2'. Interacts (via SH2 domain) with SETD1A. Interacts with IWS1, KDM6A and AICDA. Interacts with WDR43 (PubMed:31128943). Nucleus Ubiquitously expressed. Belongs to the SPT6 family. blastocyst formation nucleic acid binding DNA binding protein binding nucleus nucleobase-containing compound metabolic process transcription elongation from RNA polymerase II promoter mRNA processing transcription elongation factor complex RNA splicing regulation of mRNA export from nucleus nucleosome binding positive regulation of transcription elongation from RNA polymerase II promoter nucleosome organization transcriptionally active chromatin histone binding mRNA transcription from RNA polymerase II promoter regulation of isotype switching regulation of mRNA processing mRNA transport regulation of muscle cell differentiation negative regulation of histone H3-K27 methylation chromatin maintenance uc007kip.1 uc007kip.2 uc007kip.3 uc007kip.4 
ENSMUST00000002127.14 Unc119 ENSMUST00000002127.14 unc-119 lipid binding chaperone, transcript variant 2 (from RefSeq NM_011676.3) ENSMUST00000002127.1 ENSMUST00000002127.10 ENSMUST00000002127.11 ENSMUST00000002127.12 ENSMUST00000002127.13 ENSMUST00000002127.2 ENSMUST00000002127.3 ENSMUST00000002127.4 ENSMUST00000002127.5 ENSMUST00000002127.6 ENSMUST00000002127.7 ENSMUST00000002127.8 ENSMUST00000002127.9 NM_011676 Q9Z2R6 U119A_MOUSE Unc119h uc007kjb.1 uc007kjb.2 uc007kjb.3 uc007kjb.4 The protein encoded by this gene is multifunctional, affecting trafficking of transducin in rod photoreceptors, interacting with src-type tyrosine kinases through SH2 and SH3 interacting domains, and aiding the uptake of bacteria through endocytosis. In addition, the encoded protein acts as a lipid-binding chaperone to help localize some myristoylated proteins correctly. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. Involved in synaptic functions in photoreceptor cells, the signal transduction in immune cells as a Src family kinase activator, endosome recycling, the uptake of bacteria and endocytosis, protein trafficking in sensory neurons and as lipid-binding chaperone with specificity for a diverse subset of myristoylated proteins. Specifically binds the myristoyl moiety of a subset of N-terminally myristoylated proteins and is required for their localization. Binds myristoylated GNAT1 and is required for G-protein localization and trafficking in sensory neurons (PubMed:21642972). Probably plays a role in trafficking proteins in photoreceptor cells (PubMed:17174953). Plays important roles in mediating Src family kinase signals for the completion of cytokinesis via RAB11A. May interact with GTP-bound ARL1. Interacts with ARL2 and ARL3 (GTP-bound forms); this promotes the release of myristoylated cargo proteins (By similarity). Found in a complex with ARL3, RP2 and UNC119; RP2 induces hydrolysis of GTP ARL3 in the complex, leading to the release of UNC119. Interacts with NPHP3 (when myristoylated). Interacts with CYS1 (when myristoylated). Interacts with MACIR; interaction only takes place when UNC119 is not liganded with myristoylated proteins (By similarity). Interacts with CABP4; in the absence of calcium. Interacts with DNM1; leading to a decrease of DNM1 GTPase activity. Interacts with LCK; this interaction plays a crucial role in activation of LCK (By similarity). Interacts with FYN (By similarity). Interacts with RAB11A; in a cell cycle-dependent manner (By similarity). Interacts with LYN (via SH2 and SH3 domains); leading to LYN activation (By similarity). Found in a complex with ABL1, ABL2, CRK and UNC119; leading to the inhibition of CRK phosphorylation by ABL kinases. Interacts with CD44 (By similarity). Interacts with KLHL18 (via kelch repeats). Interacts with PPP3CA, PPP3CB and PPP3CC (PubMed:31696965). Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle Cytoplasm, cytoskeleton, spindle pole Note=ocalizes to the centrosome in interphase cells and begins to translocate from the spindle pole to the spindle midzone after the onset of mitosis; it then localizes to the intercellular bridge in telophase cells and to the midbody in cytokinetic cells. Localized in photoreceptor synapses in the outer plexiform layer of the retina. Adopts an immunoglobulin-like beta-sandwich fold forming a hydrophobic cavity that captures N-terminally myristoylated target peptides. Phe residues within the hydrophobic beta sandwich are required for myristate binding (By similarity). Phosphorylation suppresses its interaction with KLHL18 and down- regulates its KLHL18-mediated degradation (PubMed:31696965). Phosphorylated more under light conditions than dark conditions (PubMed:31696965). Dephosphorylated by calcineurin (PubMed:31696965). Mice develop a slowly progressive retinal degeneration, characterized by mottling in the fundus, mild thinning of the photoreceptor layer, and increase in apoptosis as early as 6 months, dramatic acceleration at approximately 17 months, and virtual obliteration of the photoreceptors by 20 months. Phenotypes are due to defects in protein trafficking, such as Gnat1 mislocalization. Belongs to the PDE6D/unc-119 family. mitotic cytokinesis spindle pole protein binding cytoplasm centrosome microtubule organizing center spindle cytoskeleton endocytosis nervous system development visual perception lipid binding protein transport lipoprotein transport intercellular bridge response to stimulus spindle midzone positive regulation of protein tyrosine kinase activity negative regulation of clathrin-dependent endocytosis negative regulation of caveolin-mediated endocytosis uc007kjb.1 uc007kjb.2 uc007kjb.3 uc007kjb.4 
ENSMUST00000002128.14 Rab34 ENSMUST00000002128.14 RAB34, member RAS oncogene family, transcript variant 2 (from RefSeq NM_001159482.1) ENSMUST00000002128.1 ENSMUST00000002128.10 ENSMUST00000002128.11 ENSMUST00000002128.12 ENSMUST00000002128.13 ENSMUST00000002128.2 ENSMUST00000002128.3 ENSMUST00000002128.4 ENSMUST00000002128.5 ENSMUST00000002128.6 ENSMUST00000002128.7 ENSMUST00000002128.8 ENSMUST00000002128.9 NM_001159482 Q0PD20 Q0PD20_MOUSE Rab34 uc011yai.1 uc011yai.2 uc011yai.3 GTPase activity GTP binding uc011yai.1 uc011yai.2 uc011yai.3 
ENSMUST00000002133.9 Sdf2 ENSMUST00000002133.9 stromal cell derived factor 2, transcript variant 1 (from RefSeq NM_009143.4) ENSMUST00000002133.1 ENSMUST00000002133.2 ENSMUST00000002133.3 ENSMUST00000002133.4 ENSMUST00000002133.5 ENSMUST00000002133.6 ENSMUST00000002133.7 ENSMUST00000002133.8 NM_009143 P97307 Q9DCT5 SDF2_MOUSE uc007kiq.1 uc007kiq.2 uc007kiq.3 Secreted. Ubiquitously expressed with highest expression in liver and kidney. Sequence=BAB22144.2; Type=Erroneous initiation; Evidence=; dolichyl-phosphate-mannose-protein mannosyltransferase activity extracellular region endoplasmic reticulum membrane membrane protein O-linked mannosylation uc007kiq.1 uc007kiq.2 uc007kiq.3 
ENSMUST00000002152.13 Bbc3 ENSMUST00000002152.13 BCL2 binding component 3, transcript variant 1 (from RefSeq NM_133234.3) BBC3_MOUSE ENSMUST00000002152.1 ENSMUST00000002152.10 ENSMUST00000002152.11 ENSMUST00000002152.12 ENSMUST00000002152.2 ENSMUST00000002152.3 ENSMUST00000002152.4 ENSMUST00000002152.5 ENSMUST00000002152.6 ENSMUST00000002152.7 ENSMUST00000002152.8 ENSMUST00000002152.9 NM_133234 Puma Q99ML1 uc009fho.1 uc009fho.2 uc009fho.3 uc009fho.4 Essential mediator of p53/TP53-dependent and p53/TP53- independent apoptosis (By similarity). Promotes partial unfolding of BCL2L1 and dissociation of BCL2L1 from p53/TP53, releasing the bound p53/TP53 to induce apoptosis (By similarity). Regulates ER stress- induced neuronal apoptosis (PubMed:21159964, PubMed:22761832). Interacts with MCL1 and BCL2A1 (PubMed:18589438, PubMed:18462686). Interacts with BCL2 and BCL2L1/BCL-XL (By similarity). Interacts (via BH3 domain) with NOL3 (via CARD domain); this interaction prevents BBC3 association with BCL2 and results in CASP8 activation (By similarity). Q99ML1; Q07440: Bcl2a1; NbExp=2; IntAct=EBI-727801, EBI-707754; Q99ML1; P97287: Mcl1; NbExp=2; IntAct=EBI-727801, EBI-707292; Q99ML1; Q07817-1: BCL2L1; Xeno; NbExp=3; IntAct=EBI-727801, EBI-287195; Mitochondrion. Note=Localized to the mitochondria in order to induce cytochrome c release. By DNA damage, glucocorticoid treatment, growth factor deprivation and p53 (By similarity). By ER stress in a DDIT3/CHOP- dependent manner. The BH3 motif is intrinsically disordered in the absence of a binding partner but folds upon binding (PubMed:18589438). Folds when bound to BCL2L1 (By similarity). Also folds when bound to MCL1 (PubMed:18589438). Belongs to the Bcl-2 family. release of cytochrome c from mitochondria protein binding mitochondrion mitochondrial envelope endoplasmic reticulum apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process cellular response to DNA damage stimulus determination of adult lifespan negative regulation of cell growth positive regulation of protein homooligomerization negative regulation of endoplasmic reticulum calcium ion concentration response to endoplasmic reticulum stress intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator positive regulation of apoptotic process positive regulation of neuron apoptotic process negative regulation of growth ATPase binding release of sequestered calcium ion into cytosol intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress positive regulation of thymocyte apoptotic process cellular response to ionizing radiation intrinsic apoptotic signaling pathway by p53 class mediator positive regulation of release of cytochrome c from mitochondria apoptotic signaling pathway intrinsic apoptotic signaling pathway execution phase of apoptosis positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway toxin transport positive regulation of cysteine-type endopeptidase activity positive regulation of intrinsic apoptotic signaling pathway lysosome uc009fho.1 uc009fho.2 uc009fho.3 uc009fho.4 
ENSMUST00000002172.14 Acp2 ENSMUST00000002172.14 Reaction=a phosphate monoester + H2O = an alcohol + phosphate; Xref=Rhea:RHEA:15017, ChEBI:CHEBI:15377, ChEBI:CHEBI:30879, ChEBI:CHEBI:43474, ChEBI:CHEBI:67140; EC=3.1.3.2; (from UniProt P24638) AK170658 ENSMUST00000002172.1 ENSMUST00000002172.10 ENSMUST00000002172.11 ENSMUST00000002172.12 ENSMUST00000002172.13 ENSMUST00000002172.2 ENSMUST00000002172.3 ENSMUST00000002172.4 ENSMUST00000002172.5 ENSMUST00000002172.6 ENSMUST00000002172.7 ENSMUST00000002172.8 ENSMUST00000002172.9 P24638 PPAL_MOUSE Q8QZT5 uc008kvf.1 uc008kvf.2 uc008kvf.3 uc008kvf.4 Reaction=a phosphate monoester + H2O = an alcohol + phosphate; Xref=Rhea:RHEA:15017, ChEBI:CHEBI:15377, ChEBI:CHEBI:30879, ChEBI:CHEBI:43474, ChEBI:CHEBI:67140; EC=3.1.3.2; Lysosome membrane ; Single-pass membrane protein ; Lumenal side Lysosome lumen Note=The soluble form arises by proteolytic processing of the membrane-bound form. The membrane-bound form is converted to the soluble form by sequential proteolytic processing. First, the C-terminal cytoplasmic tail is removed. Cleavage by a lysosomal protease releases the soluble form in the lysosome lumen (By similarity). Belongs to the histidine acid phosphatase family. skeletal system development phosphotyrosine binding acid phosphatase activity phosphoprotein phosphatase activity lysosome lysosomal membrane protein dephosphorylation lysosome organization response to organic substance membrane integral component of membrane dephosphorylation hydrolase activity cytoplasmic vesicle neuron projection lysosomal lumen autophagic cell death uc008kvf.1 uc008kvf.2 uc008kvf.3 uc008kvf.4 
ENSMUST00000002180.8 Spi1 ENSMUST00000002180.8 spleen focus forming virus (SFFV) proviral integration oncogene, transcript variant 2 (from RefSeq NM_011355.2) ENSMUST00000002180.1 ENSMUST00000002180.2 ENSMUST00000002180.3 ENSMUST00000002180.4 ENSMUST00000002180.5 ENSMUST00000002180.6 ENSMUST00000002180.7 NM_011355 Q3U5L4 Q3U5L4_MOUSE Sfpi1 Spi1 uc008kuj.1 uc008kuj.2 uc008kuj.3 uc008kuj.4 Nucleus Belongs to the ETS family. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm transcription factor complex regulation of transcription, DNA-templated transcription factor binding sequence-specific DNA binding histone H3 acetylation hypermethylation of CpG island regulation of erythrocyte differentiation negative regulation of gene expression, epigenetic negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter pri-miRNA transcription from RNA polymerase II promoter interleukin-6-mediated signaling pathway cellular response to ethanol negative regulation of histone H4 acetylation uc008kuj.1 uc008kuj.2 uc008kuj.3 uc008kuj.4 
ENSMUST00000002198.4 Sf3a1 ENSMUST00000002198.4 splicing factor 3a, subunit 1 (from RefSeq NM_026175.5) ENSMUST00000002198.1 ENSMUST00000002198.2 ENSMUST00000002198.3 NM_026175 Q8C0M7 Q8C128 Q8C175 Q8K4Z5 Q921T3 SF3A1_MOUSE uc007hup.1 uc007hup.2 uc007hup.3 uc007hup.4 Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs. The 17S U2 SnRNP complex (1) directly participates in early spliceosome assembly and (2) mediates recognition of the intron branch site during pre-mRNA splicing by promoting the selection of the pre- mRNA branch-site adenosine, the nucleophile for the first step of splicing. Within the 17S U2 SnRNP complex, SF3A1 is part of the SF3A subcomplex that contributes to the assembly of the 17S U2 snRNP, and the subsequent assembly of the pre-spliceosome 'E' complex and the pre- catalytic spliceosome 'A' complex. Involved in pre-mRNA splicing as a component of pre-catalytic spliceosome 'B' complexes. Component of the 17S U2 SnRNP complex, a ribonucleoprotein complex that contains small nuclear RNA (snRNA) U2 and a number of specific proteins. Part of the SF3A subcomplex of the 17S U2 SnRNP complex which is composed of three subunits; SF3A3/SAP61, SF3A2/SAP62 and SF3A1/SAP114. SF3A associates with the splicing factor SF3B and a 12S RNA unit to form the mature 17S U2 small nuclear ribonucleoprotein complex (17S U2 snRNP). SF3A1 functions as a scaffold that interacts directly with both SF3A2 and SF3A3. Identified in the spliceosome 'E' complex, a precursor of the spliceosome 'A' complex. Identified in the spliceosome 'A' and 'B' complexes. Identified in the spliceosome 'C' complex. Nucleus Nucleus speckle SURP motif 2 mediates direct binding to SF3A3. mRNA splicing, via spliceosome RNA binding nucleus spliceosomal complex U2-type spliceosomal complex U2 snRNP RNA processing mRNA processing RNA splicing nuclear speck U2-type prespliceosome U2-type precatalytic spliceosome catalytic step 2 spliceosome U2-type prespliceosome assembly uc007hup.1 uc007hup.2 uc007hup.3 uc007hup.4 
ENSMUST00000002259.13 Clgn ENSMUST00000002259.13 calmegin, transcript variant 1 (from RefSeq NM_009904.4) CLGN_MOUSE ENSMUST00000002259.1 ENSMUST00000002259.10 ENSMUST00000002259.11 ENSMUST00000002259.12 ENSMUST00000002259.2 ENSMUST00000002259.3 ENSMUST00000002259.4 ENSMUST00000002259.5 ENSMUST00000002259.6 ENSMUST00000002259.7 ENSMUST00000002259.8 ENSMUST00000002259.9 Meg1 NM_009904 P52194 Q80YU3 Q9D2K5 uc009mkd.1 uc009mkd.2 uc009mkd.3 uc009mkd.4 This gene belongs to the calreticulin family, which includes calreticulin, calnexin, and calmegin, and encodes a calcium-binding molecular chaperone specifically expressed in pachytene stage male germ cells. It is required for the proper folding of newly synthesized membrane proteins in the endoplasmic reticulum including those critical for sperm migration from the uterus into the oviduct and sperm adhesion to and penetration of the zona pellucida. This gene plays a key role in spermatogenesis and male infertility. Alternative splice variants exist for this gene. [provided by RefSeq, Jul 2016]. Functions during spermatogenesis as a chaperone for a range of client proteins that are important for sperm adhesion onto the egg zona pellucida and for subsequent penetration of the zona pellucida. Required for normal sperm migration from the uterus into the oviduct. Required for normal male fertility. Binds calcium ions. Interacts with PDILT and PPIB (By similarity). Interacts with ADAM2. Interacts with ADAM1A, ADAM1B and ADAM3; these are protein- coding genes in mouse but may be pseudogenes in other organisms. Endoplasmic reticulum membrane ; Single-pass type I membrane protein Detected in testis (at protein level). Detected in testis. Specifically expressed during male meiotic germ cell development. First detected in early pachytene spermatocytes. Expression is highest in elongating and round spermatids and decreases thereafter. Not detectable in mature spermatids. Male mice show normal mating behavior and produce morphologically normal sperm, but are nearly sterile. Mutant sperm fail to adhere to the egg zona pellucida and are generally unable to penetrate the egg extracellular matrix. In addition, mutant sperm display defects in migration from the uterus into the oviduct. Belongs to the calreticulin family. calcium ion binding protein binding nuclear envelope endoplasmic reticulum endoplasmic reticulum membrane protein folding multicellular organism development spermatogenesis single fertilization binding of sperm to zona pellucida membrane integral component of membrane cell differentiation endoplasmic reticulum unfolded protein response protein binding involved in protein folding unfolded protein binding meiotic cell cycle macromolecular complex assembly uc009mkd.1 uc009mkd.2 uc009mkd.3 uc009mkd.4 
ENSMUST00000002274.10 Napsa ENSMUST00000002274.10 napsin A aspartic peptidase (from RefSeq NM_008437.1) ENSMUST00000002274.1 ENSMUST00000002274.2 ENSMUST00000002274.3 ENSMUST00000002274.4 ENSMUST00000002274.5 ENSMUST00000002274.6 ENSMUST00000002274.7 ENSMUST00000002274.8 ENSMUST00000002274.9 NM_008437 Napsa Q3U7H1 Q3U7H1_MOUSE uc009gqf.1 uc009gqf.2 uc009gqf.3 Belongs to the peptidase A1 family. endopeptidase activity aspartic-type endopeptidase activity extracellular space lysosome proteolysis peptidase activity hydrolase activity membrane protein proteolysis surfactant homeostasis alveolar lamellar body uc009gqf.1 uc009gqf.2 uc009gqf.3 
ENSMUST00000002275.15 Vrk3 ENSMUST00000002275.15 vaccinia related kinase 3, transcript variant 11 (from RefSeq NR_185026.1) ENSMUST00000002275.1 ENSMUST00000002275.10 ENSMUST00000002275.11 ENSMUST00000002275.12 ENSMUST00000002275.13 ENSMUST00000002275.14 ENSMUST00000002275.2 ENSMUST00000002275.3 ENSMUST00000002275.4 ENSMUST00000002275.5 ENSMUST00000002275.6 ENSMUST00000002275.7 ENSMUST00000002275.8 ENSMUST00000002275.9 NR_185026 Q8K3G5 Q921W6 VRK3_MOUSE uc009gqr.1 uc009gqr.2 uc009gqr.3 uc009gqr.4 Inactive kinase that suppresses ERK activity by promoting phosphatase activity of DUSP3 which specifically dephosphorylates and inactivates ERK in the nucleus. Interacts with DUSP3. Interacts with RAN (By similarity). Nucleus Expressed in liver, kidney, muscle, thymus, and bone marrow. Weakly expressed in spleen. Weakly expressed in embryo compared to VRK1 and VRK3. Expressed from 10.5 dpc to 13.5 dpc in developing liver and then decreases. It increases again from 17.5 dpc and remains thereafter. Highly expressed in hematopoietic embryonic tissues from 10.5 dpc to 14.5 dpc. Strongly expressed in the yolk-sac. Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. VRK subfamily. Inactive as a kinase due to its inability to bind ATP. nucleotide binding protein kinase activity protein serine/threonine kinase activity ATP binding nucleus nucleolus cytoplasm protein phosphorylation peptidyl-serine phosphorylation protein phosphatase binding positive regulation of phosphoprotein phosphatase activity intracellular membrane-bounded organelle negative regulation of ERK1 and ERK2 cascade uc009gqr.1 uc009gqr.2 uc009gqr.3 uc009gqr.4 
ENSMUST00000002280.11 Smg9 ENSMUST00000002280.11 SMG9 nonsense mediated mRNA decay factor, transcript variant 4 (from RefSeq NR_184862.1) ENSMUST00000002280.1 ENSMUST00000002280.10 ENSMUST00000002280.2 ENSMUST00000002280.3 ENSMUST00000002280.4 ENSMUST00000002280.5 ENSMUST00000002280.6 ENSMUST00000002280.7 ENSMUST00000002280.8 ENSMUST00000002280.9 NR_184862 Q3TTB9 Q8BYJ3 Q9DB90 SMG9_MOUSE Smg9 uc009fpn.1 uc009fpn.2 uc009fpn.3 Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required for the efficient association between SMG1 and SMG8 (By similarity). Plays a role in brain, heart, and eye development (PubMed:27018474). Self-associates to form homodimers and forms heterodimers with SMG8; these assembly forms may represent SMG1C intermediate forms (By similarity). Component of the SMG1C complex composed of SMG1, SMG8 and SMG9 (By similarity). Interacts with DHX34; the interaction is RNA- independent (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9DB90-1; Sequence=Displayed; Name=2; IsoId=Q9DB90-2; Sequence=VSP_025947; Phosphorylated by SMG1. Embryonic lethal. Homozygous null embryos show a range of abnormalities, including edema, hemorrhage, exencephaly, preaxial polydactyly, decreased size of the mid- and hindbrains, microphthalmia, thin myocardium, and cardiac septal defects. These phenotypes are variable among mutant embryos; there is evidence of incomplete penetrance, but most embryos show clear phenotypic abnormalities. Belongs to the SMG9 family. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay eye development in utero embryonic development brain development heart development identical protein binding uc009fpn.1 uc009fpn.2 uc009fpn.3 
ENSMUST00000002284.11 Plaur ENSMUST00000002284.11 plasminogen activator, urokinase receptor (from RefSeq NM_011113.4) ENSMUST00000002284.1 ENSMUST00000002284.10 ENSMUST00000002284.2 ENSMUST00000002284.3 ENSMUST00000002284.4 ENSMUST00000002284.5 ENSMUST00000002284.6 ENSMUST00000002284.7 ENSMUST00000002284.8 ENSMUST00000002284.9 NM_011113 Plaur Q545X5 Q545X5_MOUSE uc009fpr.1 uc009fpr.2 uc009fpr.3 uc009fpr.4 positive regulation of protein phosphorylation receptor binding plasma membrane cell surface membrane integral component of membrane kinase activity phosphorylation enzyme binding protein domain specific binding regulation of proteolysis urokinase plasminogen activator receptor activity urokinase plasminogen activator signaling pathway negative regulation of apoptotic process positive regulation of DNA binding positive regulation of epidermal growth factor receptor signaling pathway positive regulation of release of cytochrome c from mitochondria negative regulation of intrinsic apoptotic signaling pathway negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway uc009fpr.1 uc009fpr.2 uc009fpr.3 uc009fpr.4 
ENSMUST00000002289.8 Uchl3 ENSMUST00000002289.8 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) (from RefSeq NM_016723.2) ENSMUST00000002289.1 ENSMUST00000002289.2 ENSMUST00000002289.3 ENSMUST00000002289.4 ENSMUST00000002289.5 ENSMUST00000002289.6 ENSMUST00000002289.7 NM_016723 Q9EQX7 Q9JKB1 UCHL3_MOUSE uc007uvw.1 uc007uvw.2 uc007uvw.3 Deubiquitinating enzyme (DUB) that controls levels of cellular ubiquitin through processing of ubiquitin precursors and ubiquitinated proteins. Thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of either ubiquitin or NEDD8. Has a 10-fold preference for Arg and Lys at position P3'', and exhibits a preference towards 'Lys-48'-linked ubiquitin chains. Deubiquitinates ENAC in apical compartments, thereby regulating apical membrane recycling. Indirectly increases the phosphorylation of IGFIR, AKT and FOXO1 and promotes insulin-signaling and insulin-induced adipogenesis. Required for stress-response retinal, skeletal muscle and germ cell maintenance. May be involved in working memory. Can hydrolyze UBB(+1), a mutated form of ubiquitin which is not effectively degraded by the proteasome. Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76- residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Evidence=; Inhibited by monoubiquitin and diubiquitin. Preferentially binds diubiquitin; the interaction does not hydrolyze diubiquitin but, in vitro, inhibits the hydrolyzing activity on other substrates. Cytoplasm Ubiquitously expressed, with highest levels in brain, liver, heart, thymus, kidney and testis. Highly expressed in the cauda epididymidis, in meiotic pachytene spermatocytes and post-meiotic spematids. In the retina, enriched in the photoreceptor inner segment. Expressed at 8.5 dpc in structures required for skeletal patterning. Highly expressed at 11 dpc, and decreases markedly from 15 dpc. Mice have no developmental defects, are fertile, and show normal T-cell differentiation. They have normal anxiety, locomotor behavior, motor function and synaptic transmission, but show defects in spatial learning and working memory. Exhibit stress-related effects with profound apoptosis-mediated germ cell loss and also, prominent retinal degeneration with photoreceptor cell apoptosis and mitochondrial oxidative stress. Mice show reduced capacity for adipocyte differentiation and impaired insulin responses. Belongs to the peptidase C12 family. thiol-dependent ubiquitin-specific protease activity nucleus cytoplasm cytosol proteolysis ubiquitin-dependent protein catabolic process adult walking behavior peptidase activity cysteine-type peptidase activity protein deubiquitination hydrolase activity protein catabolic process cellular response to insulin stimulus thiol-dependent ubiquitinyl hydrolase activity eating behavior ubiquitin binding positive regulation of fat cell differentiation retina development in camera-type eye ubiquitinyl hydrolase activity uc007uvw.1 uc007uvw.2 uc007uvw.3 
ENSMUST00000002291.12 Paxip1 ENSMUST00000002291.12 PAX interacting (with transcription-activation domain) protein 1 (from RefSeq NM_018878.4) ENSMUST00000002291.1 ENSMUST00000002291.10 ENSMUST00000002291.11 ENSMUST00000002291.2 ENSMUST00000002291.3 ENSMUST00000002291.4 ENSMUST00000002291.5 ENSMUST00000002291.6 ENSMUST00000002291.7 ENSMUST00000002291.8 ENSMUST00000002291.9 NM_018878 PAXI1_MOUSE Ptip Q6NZQ4 Q9Z0W6 uc033iie.1 uc033iie.2 uc033iie.3 This gene encodes a nuclear-localized protein that contains six BRCT1 (C-terminal of breast cancer susceptibility protein) domains. The encoded protein is involved in the repair of DNA double-strand breaks and is necessary for progression through cell division. The protein also functions in the regulation of transcription by recruiting histone methyltransferases to gene promoters bound by the sequence-specific transcription factor paired box protein 2 (Pax2). [provided by RefSeq, Mar 2013]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF104261.1, BC066014.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Involved in DNA damage response and in transcriptional regulation through histone methyltransferase (HMT) complexes such as the MLL2/MLL3 complex. Plays a role in early development. In DNA damage response is required for cell survival after ionizing radiation. In vitro shown to be involved in the homologous recombination mechanism for the repair of double-strand breaks (DSBs). Its localization to DNA damage foci requires Rnf8 and Ube2n. Recruits Tp53bp1 to DNA damage foci and, at least in particular repair processes, effective DNA damage response appears to require the association with Tp53bp1 phosphorylated by Atm. Together with Tp53bp1 regulates Atm association (By similarity). Proposed to recruit Pagr1 to sites of DNA damage and the Pagr1:Paxip1 complex is required for cell survival in response to DNA damage independently of the MLL2/MLL3 complex. However, this function has been questioned (PubMed:19124460, PubMed:26744420). Promotes ubiquitination of PCNA following UV irradiation and may regulate recruitment of polymerase eta and Rad51 to chromatin after DNA damage. Proposed to be involved in transcriptional regulation by linking MLL- containing histone methyltransferase (HMT) complexes to gene promoters by interacting with promoter-bound transcription factors such as Pax2. Associates with gene promoters that are known to be regulated by Kmt2d/Mll2 (By similarity). During immunoglobulin class switching in activated B-cells is involved in trimethylation of histone H3 at 'Lys- 4' and in transcription initiation of downstream switch regions at the immunoglobulin heavy-chain (Igh) locus; this function appears to involve the recruitment of MLL-containing HMT complexes. Conflictingly, its function in transcriptional regulation during immunoglobulin class switching is reported to be independent of the MLL2/MLL3 complex (PubMed:20671152, PubMed:26744420). Interacts with the C-terminal transactivation domain of PAX2 (PubMed:10908331). Forms a constitutive complex with PAGR1 independently of the MLL2/MLL3 complex (PubMed:19124460, PubMed:26744420). Interacts with TP53BP1 (when phosphorylated at the N- terminus by ATM) (By similarity). Interacts with HLTF (By similarity). Component of the KMT2 family MLL2/MLL3 complex (also named ASCOM complex), at least composed of the HMTs KMT2D and/or KMT2C, the common subunits ASH2L, RBBP5, WDR5 and DPY30, and the complex type-specific subunits PAXIP1/PTIP, PAGR1, NCOA6 and KDM6A; required for the association of PAGR1 with the MLL2/MLL3 complex (By similarity). Interacts with NUPR1; this interaction prevents PAXIP1 inhibition of PAX2 transcription factor activity (By similarity). Q6NZQ4; Q99L02: Pagr1a; NbExp=11; IntAct=EBI-1395317, EBI-11667455; Q6NZQ4; P32114: Pax2; NbExp=3; IntAct=EBI-1395317, EBI-1395232; Q6NZQ4; P32114-2: Pax2; NbExp=2; IntAct=EBI-1395317, EBI-1395250; Q6NZQ4; Q02650: Pax5; NbExp=3; IntAct=EBI-1395317, EBI-296260; Q6NZQ4; Q9BTK6: PAGR1; Xeno; NbExp=5; IntAct=EBI-1395317, EBI-2372223; Q6NZQ4; Q12888: TP53BP1; Xeno; NbExp=5; IntAct=EBI-1395317, EBI-396540; Nucleus matrix romosome Note=Localizes to DNA damage foci upon ionizing radiation. Expression detected in all tissues examined, including brain stem, cerebellum, cortex, heart, spleen, kidney, liver, thymus and lung. Highly expressed in embryonic kidney and brain. The BRCT 1 and 2 domains mediate the interaction with PAGR1A. The BRCT 5 and 6 domains mediate the association with the MLL2/MLL3 complex (PubMed:26744420). The BRCT 5 and 6 domains function as a single module and are necessary and sufficient for in vitro phospho-specific binding (substrates phosphorylated by the kinases ataxia telangiectasia-mutated (ATM), ataxia telangiectasia and RAD3- related (ATR) in response to gamma irradiation). In contrast, in vivo two pairs of BRCT domains (3-6) bind to phosphorylated TP53BP1 much more efficiently. Mice are developmentally retarded, disorganized, and embryonic lethal by 9.5 dpc. Mutant cells appear to replicate DNA but show reduced levels of mitosis and widespread cell death by 8.5 dpc. DNA damage appears to precede nuclear condensation at 7 dpc. Reduced levels of histone H3 methylated at 'Lys-4 in developing tissues. The terminology of MLL proteins in mammalia is not consistent also concerning the terminology of MLL protein-containing complexes. The decribed MLL2/MLL3 complex is commonly described as MLL3/MLL4 complex in literature. positive regulation of histone H3-K36 methylation vasculogenesis protein binding nucleus nucleoplasm chromosome DNA repair DNA recombination cellular response to DNA damage stimulus response to ionizing radiation nuclear matrix DNA damage response, signal transduction by p53 class mediator positive regulation of protein ubiquitination positive regulation of histone acetylation histone methyltransferase complex negative regulation of sequence-specific DNA binding transcription factor activity endothelial cell migration MLL3/4 complex positive regulation of isotype switching positive regulation of isotype switching to IgG isotypes histone H3-K4 methylation positive regulation of histone H3-K4 methylation positive regulation of transcription initiation from RNA polymerase II promoter adipose tissue development chorion development regulation of cell cycle G2/M phase transition positive regulation of response to DNA damage stimulus uc033iie.1 uc033iie.2 uc033iie.3 
ENSMUST00000002292.15 Rmnd5a ENSMUST00000002292.15 required for meiotic nuclear division 5 homolog A, transcript variant 1 (from RefSeq NM_024288.3) E9QNK7 ENSMUST00000002292.1 ENSMUST00000002292.10 ENSMUST00000002292.11 ENSMUST00000002292.12 ENSMUST00000002292.13 ENSMUST00000002292.14 ENSMUST00000002292.2 ENSMUST00000002292.3 ENSMUST00000002292.4 ENSMUST00000002292.5 ENSMUST00000002292.6 ENSMUST00000002292.7 ENSMUST00000002292.8 ENSMUST00000002292.9 NM_024288 Q3TPH1 Q3UFE2 Q80YQ8 RMD5A_MOUSE uc009cgu.1 uc009cgu.2 uc009cgu.3 Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex. Catalytic activity of the complex is required for normal cell proliferation. The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1. Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5. Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles. Nucleus, nucleoplasm Cytoplasm Sequence=BAE28619.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; ubiquitin ligase complex protein polyubiquitination ubiquitin-protein transferase activity nucleus nucleoplasm cytoplasm ubiquitin-dependent protein catabolic process transferase activity GID complex proteasome-mediated ubiquitin-dependent protein catabolic process metal ion binding uc009cgu.1 uc009cgu.2 uc009cgu.3 
ENSMUST00000002298.7 Ppm1j ENSMUST00000002298.7 protein phosphatase 1J (from RefSeq NM_027982.2) ENSMUST00000002298.1 ENSMUST00000002298.2 ENSMUST00000002298.3 ENSMUST00000002298.4 ENSMUST00000002298.5 ENSMUST00000002298.6 NM_027982 PPM1J_MOUSE Ppp2cz Q149T7 Q810X6 Q9D7H6 uc008quk.1 uc008quk.2 uc008quk.3 Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16; Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA- COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16; Interacts with UBE2I/UBC9. Specifically expressed in the testicular germ cells. Belongs to the PP2C family. Sequence=BAB26156.1; Type=Erroneous initiation; Evidence=; catalytic activity phosphoprotein phosphatase activity protein serine/threonine phosphatase activity magnesium-dependent protein serine/threonine phosphatase activity [pyruvate dehydrogenase (lipoamide)] phosphatase activity protein binding mitochondrion protein dephosphorylation hydrolase activity positive regulation of pyruvate dehydrogenase activity uc008quk.1 uc008quk.2 uc008quk.3 
ENSMUST00000002305.9 Kdm7a ENSMUST00000002305.9 lysine (K)-specific demethylase 7A (from RefSeq NM_001033430.4) A6H6E5 ENSMUST00000002305.1 ENSMUST00000002305.2 ENSMUST00000002305.3 ENSMUST00000002305.4 ENSMUST00000002305.5 ENSMUST00000002305.6 ENSMUST00000002305.7 ENSMUST00000002305.8 Jhdm1d KDM7A_MOUSE Kdm7 Kiaa1718 NM_001033430 Q3UWM4 Q3UWN8 Q6ZPJ5 Q8C969 Q8C9E0 Q91VX8 uc009blj.1 uc009blj.2 uc009blj.3 uc009blj.4 Histone demethylase required for brain development. Specifically demethylates dimethylated 'Lys-9', 'Lys-27' and 'Lys-36' (H3K9me2, H3K27me2, H3K36me2, respectively) of histone H3 and monomethylated histone H4 'Lys-20' residue (H4K20Me1), thereby playing a central role in histone code. Specifically binds trimethylated 'Lys- 4' of histone H3 (H3K4me3), affecting histone demethylase specificity: in presence of H3K4me3, it has no demethylase activity toward H3K9me2, while it has high activity toward H3K27me2. Demethylates H3K9me2 in absence of H3K4me3. Has activity toward H4K20Me1 only when nucleosome is used as a substrate and when not histone octamer is used as substrate. Reaction=2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate; Xref=Rhea:RHEA:60188, Rhea:RHEA-COMP:15541, Rhea:RHEA- COMP:15546, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:29969, ChEBI:CHEBI:30031, ChEBI:CHEBI:61976; EC=1.14.11.65; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60189; Evidence=; Reaction=2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(27)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(27)-[histone H3] + 2 succinate; Xref=Rhea:RHEA:67800, Rhea:RHEA-COMP:15539, Rhea:RHEA- COMP:15548, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:29969, ChEBI:CHEBI:30031, ChEBI:CHEBI:61976; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:67801; Evidence=; Reaction=2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(36)-[histone H3] + O2 = CO2 + formaldehyde + N(6)-methyl-L-lysyl(36)-[histone H3] + succinate; Xref=Rhea:RHEA:21788, Rhea:RHEA-COMP:9786, Rhea:RHEA- COMP:9787, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:30031, ChEBI:CHEBI:61929, ChEBI:CHEBI:61976; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:21789; Evidence=; Reaction=2-oxoglutarate + N(6)-methyl-L-lysyl(20)-[histone H4] + O2 = CO2 + formaldehyde + L-lysyl(20)-[histone H4] + succinate; Xref=Rhea:RHEA:67804, Rhea:RHEA-COMP:15554, Rhea:RHEA-COMP:15555, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:29969, ChEBI:CHEBI:30031, ChEBI:CHEBI:61929; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:67805; Evidence=; Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; Note=Binds 1 Fe(2+) ion per subunit. ; Nucleus The PHD-type zinc finger mediates the binding to H3K4me3. Binding to H3K4me3 prevents its access to H3K9me2. The linker region is a critical determinant of demethylase specificity. It prevents the active site of JmjC to reach the target H3K9me2 when the PHD-type zinc finger binds to H3K4me3, while it favors selectivity toward H3K27me2. Belongs to the JHDM1 histone demethylase family. JHDM1D subfamily. Sequence=AAI45849.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAE22876.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; iron ion binding nucleus nucleoplasm nucleolus chromatin organization nervous system development zinc ion binding oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors midbrain development histone demethylase activity (H3-K9 specific) histone H3-K9 demethylation methylated histone binding histone H4-K20 demethylation histone demethylase activity (H4-K20 specific) positive regulation of transcription, DNA-templated metal ion binding dioxygenase activity histone demethylase activity (H3-K36 specific) oxidation-reduction process histone H3-K36 demethylation histone H3-K27 demethylation histone demethylase activity (H3-K27 specific) uc009blj.1 uc009blj.2 uc009blj.3 uc009blj.4 
ENSMUST00000002320.16 Ppard ENSMUST00000002320.16 peroxisome proliferator activator receptor delta, transcript variant 1 (from RefSeq NM_011145.4) ENSMUST00000002320.1 ENSMUST00000002320.10 ENSMUST00000002320.11 ENSMUST00000002320.12 ENSMUST00000002320.13 ENSMUST00000002320.14 ENSMUST00000002320.15 ENSMUST00000002320.2 ENSMUST00000002320.3 ENSMUST00000002320.4 ENSMUST00000002320.5 ENSMUST00000002320.6 ENSMUST00000002320.7 ENSMUST00000002320.8 ENSMUST00000002320.9 NM_011145 PPARb/d Ppard Q546I3 Q546I3_MOUSE uc008bqk.1 uc008bqk.2 uc008bqk.3 Nucleus Belongs to the nuclear hormone receptor family. NR1 subfamily. DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity transcription coactivator activity RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding fatty acid binding nucleus proteoglycan metabolic process regulation of transcription, DNA-templated lipid metabolic process vitamin A metabolic process apoptotic process heart development embryo implantation transcription factor binding drug binding zinc ion binding lipid binding phospholipid biosynthetic process mRNA transcription response to glucose response to organic substance response to activity negative regulation of smooth muscle cell migration fatty acid oxidation negative regulation of cell growth intracellular receptor signaling pathway positive regulation of insulin secretion negative regulation of collagen biosynthetic process response to vitamin A negative regulation of apoptotic process steroid hormone mediated signaling pathway sequence-specific DNA binding positive regulation of epidermis development positive regulation of transcription, DNA-templated decidualization metal ion binding negative regulation of smooth muscle cell proliferation negative regulation of inflammatory response NF-kappaB binding linoleic acid binding cellular response to lipopolysaccharide apoptotic signaling pathway uc008bqk.1 uc008bqk.2 uc008bqk.3 
ENSMUST00000002327.6 Def6 ENSMUST00000002327.6 differentially expressed in FDCP 6 (from RefSeq NM_027185.3) A0A0R4IZX1 A0A0R4IZX1_MOUSE Def6 ENSMUST00000002327.1 ENSMUST00000002327.2 ENSMUST00000002327.3 ENSMUST00000002327.4 ENSMUST00000002327.5 NM_027185 uc008bqi.1 uc008bqi.2 uc008bqi.3 nucleoplasm cytosol uc008bqi.1 uc008bqi.2 uc008bqi.3 
ENSMUST00000002336.16 Zim1 ENSMUST00000002336.16 zinc finger, imprinted 1 (from RefSeq NM_011769.4) ENSMUST00000002336.1 ENSMUST00000002336.10 ENSMUST00000002336.11 ENSMUST00000002336.12 ENSMUST00000002336.13 ENSMUST00000002336.14 ENSMUST00000002336.15 ENSMUST00000002336.2 ENSMUST00000002336.3 ENSMUST00000002336.4 ENSMUST00000002336.5 ENSMUST00000002336.6 ENSMUST00000002336.7 ENSMUST00000002336.8 ENSMUST00000002336.9 NM_011769 Q8C393 Q8C393_MOUSE Zim1 uc009fbv.1 uc009fbv.2 uc009fbv.3 nucleic acid binding regulation of transcription, DNA-templated metal ion binding uc009fbv.1 uc009fbv.2 uc009fbv.3 
ENSMUST00000002350.11 Ciao3 ENSMUST00000002350.11 cytosolic iron-sulfur assembly component 3 (from RefSeq NM_026238.4) CIAO3_MOUSE ENSMUST00000002350.1 ENSMUST00000002350.10 ENSMUST00000002350.2 ENSMUST00000002350.3 ENSMUST00000002350.4 ENSMUST00000002350.5 ENSMUST00000002350.6 ENSMUST00000002350.7 ENSMUST00000002350.8 ENSMUST00000002350.9 NM_026238 Narfl Q3ULM7 Q7TMW6 Q8BRR3 Q9CXS6 Q9D320 uc008bbq.1 uc008bbq.2 uc008bbq.3 Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. Seems to negatively regulate the level of HIF1A expression, although this effect could be indirect (By similarity). External component of the CIA complex. In the CIA complex, interacts directly with CIAO1 and MMS19. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7TMW6-1; Sequence=Displayed; Name=2; IsoId=Q7TMW6-2; Sequence=VSP_025696; Belongs to the NARF family. response to hypoxia hematopoietic progenitor cell differentiation regulation of gene expression iron-sulfur cluster assembly oxygen homeostasis metal ion binding iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding CIA complex uc008bbq.1 uc008bbq.2 uc008bbq.3 
ENSMUST00000002360.17 Angptl4 ENSMUST00000002360.17 angiopoietin-like 4 (from RefSeq NM_020581.2) ANGL4_MOUSE ENSMUST00000002360.1 ENSMUST00000002360.10 ENSMUST00000002360.11 ENSMUST00000002360.12 ENSMUST00000002360.13 ENSMUST00000002360.14 ENSMUST00000002360.15 ENSMUST00000002360.16 ENSMUST00000002360.2 ENSMUST00000002360.3 ENSMUST00000002360.4 ENSMUST00000002360.5 ENSMUST00000002360.6 ENSMUST00000002360.7 ENSMUST00000002360.8 ENSMUST00000002360.9 Farp Fiaf NM_020581 Ng27 Q78ZJ9 Q9JHX7 Q9JLX7 Q9Z1P8 uc008bzp.1 uc008bzp.2 uc008bzp.3 uc008bzp.4 Mediates inactivation of the lipoprotein lipase LPL, and thereby plays a role in the regulation of triglyceride clearance from the blood serum and in lipid metabolism (PubMed:15837923, PubMed:17609370, PubMed:29899519). May also play a role in regulating glucose homeostasis and insulin sensitivity (PubMed:15837923, PubMed:29899519). Inhibits proliferation, migration, and tubule formation of endothelial cells and reduces vascular leakage (PubMed:14583458, PubMed:17130448, PubMed:21832056). Upon heterologous expression, inhibits the adhesion of endothelial cell to the extracellular matrix (ECM), and inhibits the reorganization of the actin cytoskeleton, formation of actin stress fibers and focal adhesions in endothelial cells that have adhered to ANGPTL4-containing ECM (in vitro) (By similarity). Depending on context, may modulate tumor-related angiogenesis (Probable). [ANGPTL4 N-terminal chain]: Mediates inactivation of the lipoprotein lipase LPL, and thereby plays an important role in the regulation of triglyceride clearance from the blood serum and in lipid metabolism. Has higher activity in LPL inactivation than the uncleaved protein. Homooligomer; disulfide-linked via Cys residues in the N- terminal part of the protein (PubMed:14583458). The homooligomer undergoes proteolytic processing to release the ANGPTL4 C-terminal chain, which circulates as a monomer. The homooligomer unprocessed form is able to interact with the extracellular matrix (By similarity). Secreted creted, extracellular space, extracellular matrix Note=The unprocessed form interacts with the extracellular matrix. This may constitute a dynamic reservoir, a regulatory mechanism of the bioavailability of ANGPTL4. Detected in liver and kidney (PubMed:10698685, PubMed:17609370). Predominantly expressed in adipose tissue and is strongly up-regulated by fasting in white adipose tissue and liver. Detected in endothelial cells in the capillary plexus, veins and arteries in the retina at 2, 12 and 17 days after birth (PubMed:21832056). Expressed at low levels in most organs and connective tissue at 13.5 dpc. Between 15.5 dpc and 18.5 dpc, strongest expression in brown fat. Induced in interstitial capillaries in response to hind leg ischemia (PubMed:17068295). Alterations in nutrition and leptin administration are found to modulate the expression in vivo. N-glycosylated. [ANGPTL4 N-terminal chain]: Forms disulfide-linked dimers and tetramers. Cleaved into a smaller N-terminal chain and a larger chain that contains the fibrinogen C-terminal domain; both cleaved and uncleaved forms are detected in the extracellular space. The cleaved form is not present within the cell. Pups are born at less than the expected Mendelian rate, indicative of significant embryonic lethality. No obvious phenotype after birth; mice are viable and fertile (PubMed:21832056). Mutant mice have reduced circulating triglyceride and cholesterol levels when fed a high-fat diet (PubMed:17609370, PubMed:29899519). Besides, they display 30% lower non-fasted blood glucose levels and improved glucose tolerance when fed a high-fat diet. In contrast, glucose levels and glucose tolerance are not different from wild-type when mice are kept on a normal diet (PubMed:29899519). The retinal vascular network displays subtle alterations, including a somewhat larger diameter of veins and capillaries. Pups display a delay in pericyte spreading on newly formed capillaries in the retina, and defects in the organization of endothelial cell tight junctions. In retinas from 17 day old animals, hypoxia-induced pathological neovascularization is strongly reduced (PubMed:21832056). Some studies observed decreased survival of suckling pups and of adults kept on a high-fat diet due to intestinal pathologies, with lipogranulomatous lesions of the intestines and their draining lymphatics and mesenteric lymph nodes (PubMed:17609370). Other studies observed no such effects (PubMed:29899519). Upon heterologous expression under the control of the keratinocyte promoter in the skin, inhibits tumor-associated angiogenesis and tumor growth (PubMed:14583458). In xenograft models, it inhibits both intra- and extravasation of tumor cells as well as vascular permeability leading to inhibition of metastases. Expression by tumor cells induces reorganization of the actin cytoskeleton through inhibition of actin stress fiber formation and vinculin localization at focal contacts. It might prevent the metastatic process by inhibiting vascular activity as well as tumor cell motility and invasiveness (PubMed:17130448). angiogenesis response to hypoxia enzyme inhibitor activity extracellular region extracellular space lipid metabolic process cellular response to starvation identical protein binding negative regulation of apoptotic process protein unfolding positive regulation of lipid metabolic process negative regulation of lipoprotein lipase activity protein homooligomerization triglyceride homeostasis negative regulation of endothelial cell apoptotic process uc008bzp.1 uc008bzp.2 uc008bzp.3 uc008bzp.4 
ENSMUST00000002379.15 Cd320 ENSMUST00000002379.15 CD320 antigen, transcript variant 1 (from RefSeq NM_019421.3) CD320_MOUSE ENSMUST00000002379.1 ENSMUST00000002379.10 ENSMUST00000002379.11 ENSMUST00000002379.12 ENSMUST00000002379.13 ENSMUST00000002379.14 ENSMUST00000002379.2 ENSMUST00000002379.3 ENSMUST00000002379.4 ENSMUST00000002379.5 ENSMUST00000002379.6 ENSMUST00000002379.7 ENSMUST00000002379.8 ENSMUST00000002379.9 NM_019421 Q3V2Q4 Q7TSW0 Q8C2Q4 Q9CWC2 Q9Z1P5 uc008bzv.1 uc008bzv.2 Receptor for transcobalamin saturated with cobalamin (TCbl). Plays an important role in cobalamin uptake. Plasma membrane protein that is expressed on follicular dendritic cells (FDC) and mediates interaction with germinal center B cells. Functions as a costimulator to promote B cell responses to antigenic stimuli; promotes B cell differentiation and proliferation. Germinal center-B (GC-B) cells differentiate into memory B-cells and plasma cells (PC) through interaction with T-cells and follicular dendritic cells (FDC). CD320 augments the proliferation of PC precursors generated by IL-10. Interacts (via LDL-receptor class A domains) with TCN2. Cell membrane ; Single-pass type I membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Z1P5-1; Sequence=Displayed; Name=2; IsoId=Q9Z1P5-2; Sequence=VSP_035723; Sequence=CAD91188.1; Type=Miscellaneous discrepancy; Evidence=; calcium ion binding endoplasmic reticulum plasma membrane integral component of plasma membrane signal transduction growth factor activity cobalamin transport membrane integral component of membrane regulation of vitamin metabolic process positive regulation of B cell proliferation B cell costimulation cobalamin binding metal ion binding uc008bzv.1 uc008bzv.2 
ENSMUST00000002395.8 Rec8 ENSMUST00000002395.8 REC8 meiotic recombination protein, transcript variant 1 (from RefSeq NM_020002.3) ENSMUST00000002395.1 ENSMUST00000002395.2 ENSMUST00000002395.3 ENSMUST00000002395.4 ENSMUST00000002395.5 ENSMUST00000002395.6 ENSMUST00000002395.7 Mei8 NM_020002 Q3UIN9 Q8C5S7 Q9JK52 REC8_MOUSE Rec8L1 uc007tzo.1 uc007tzo.2 uc007tzo.3 uc007tzo.4 Required during meiosis for separation of sister chromatids and homologous chromosomes. Proteolytic cleavage of REC8 on chromosome arms by separin during anaphase I allows for homologous chromosome separation in meiosis I and cleavage of REC8 on centromeres during anaphase II allows for sister chromatid separation in meiosis II. Interacts (phosphorylated and unphosphorylated form) with SMC3. Interacts with SYCP3. Interacts (phosphorylated and unphosphorylated form) with SMC1B. Does not interact with SMC1A. Interacts with RAD51. Forms a complex with EWSR1, PRDM9, SYCP3 and SYCP1; complex formation is dependent of phosphorylated form of REC8 and requires PRDM9 bound to hotspot DNA; EWSR1 joins PRDM9 with the chromosomal axis through REC8 (PubMed:27932493). Nucleus romosome romosome, centromere te=In meiotic chromosomes, localized along axial elements in prophase from the leptotene to diplotene stages. At later prophase stages, diakinesis and metaphase I, localized along interstitial axes of chromosomes including both centromere and arm regions. No longer detected in arm regions in anaphase I but persists on centromere regions until metaphase II. Expressed primarily in the gonads. In the testis, expressed in pachytene spermatocytes and in spermatids. Not expressed in spermatogonia or somatic cells. In the ovary, expressed only in oocytes. Low levels also detected in a number of somatic tissues including thymus, lung, liver, kidney and small intestine. Expressed from 2 weeks postpartum (at protein level). Phosphorylated. Mice display a high mortality rate, both during embryogenesis and after birth, germ cell failure and sterility. Mutant females exhibit ovarian dysgenesis and lack ovarian follicles at reproductive maturity. Affected males have small testes due to arrest of spermatogenesis during meiotic prophase I. Early chromosome pairing appears normal but synapsis occurs between sister chromatids rather than between homologous chromosomes. Belongs to the rad21 family. double-strand break repair via homologous recombination chromosome, centromeric region condensed nuclear chromosome kinetochore condensed nuclear chromosome, centromeric region condensed chromosome condensed nuclear chromosome synaptonemal complex lateral element oocyte maturation male germ cell nucleus chromatin binding protein binding nucleus nucleoplasm chromosome double-strand break repair chromosome segregation sister chromatid cohesion synapsis synaptonemal complex assembly male meiosis I spermatid development cohesin complex fertilization meiotic cohesin complex nuclear meiotic cohesin complex meiotic cell cycle seminiferous tubule development uc007tzo.1 uc007tzo.2 uc007tzo.3 uc007tzo.4 
ENSMUST00000002397.7 Gmpr2 ENSMUST00000002397.7 guanosine monophosphate reductase 2 (from RefSeq NM_177992.2) ENSMUST00000002397.1 ENSMUST00000002397.2 ENSMUST00000002397.3 ENSMUST00000002397.4 ENSMUST00000002397.5 ENSMUST00000002397.6 GMPR2_MOUSE Gmpr2 NM_177992 Q542X2 Q8R1T5 Q99L27 uc007uae.1 uc007uae.2 uc007uae.3 Catalyzes the irreversible NADPH-dependent deamination of GMP to IMP. It functions in the conversion of nucleobase, nucleoside and nucleotide derivatives of G to A nucleotides, and in maintaining the intracellular balance of A and G nucleotides (Probable). Plays a role in modulating cellular differentiation (By similarity). Reaction=IMP + NADP(+) + NH4(+) = GMP + 2 H(+) + NADPH; Xref=Rhea:RHEA:17185, ChEBI:CHEBI:15378, ChEBI:CHEBI:28938, ChEBI:CHEBI:57783, ChEBI:CHEBI:58053, ChEBI:CHEBI:58115, ChEBI:CHEBI:58349; EC=1.7.1.7; Evidence= Homotetramer. Belongs to the IMPDH/GMPR family. GuaC type 1 subfamily. catalytic activity GMP reductase activity purine nucleobase metabolic process purine nucleotide metabolic process nucleotide metabolic process purine ribonucleotide interconversion oxidoreductase activity monocyte differentiation GMP metabolic process GMP catabolic process metal ion binding oxidation-reduction process GMP reductase complex uc007uae.1 uc007uae.2 uc007uae.3 
ENSMUST00000002400.7 Mdp1 ENSMUST00000002400.7 magnesium-dependent phosphatase 1, transcript variant 1 (from RefSeq NM_023397.5) ENSMUST00000002400.1 ENSMUST00000002400.2 ENSMUST00000002400.3 ENSMUST00000002400.4 ENSMUST00000002400.5 ENSMUST00000002400.6 MGDP1_MOUSE NM_023397 Q9D967 uc007uaa.1 uc007uaa.2 uc007uaa.3 Magnesium-dependent phosphatase which may act as a tyrosine phosphatase. Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Inhibited by vanadate and zinc, and slightly by calcium. Kinetic parameters: KM=9.5 mM for ribose-5-phosphate ; KM=5.6 mM for 2-deoxy-ribose-5-phosphate ; KM=15 mM for phosphotyrosine ; KM=1.1 mM for arabinose-5-phosphate ; KM=21 mM for fructose-6-phosphate ; KM=12 mM for 5'-CMP ; KM=1.7 mM for pNPP ; KM=26 mM for 5'-AMP ; KM=31 mM for glucose-6-phosphate ; Note=Dephosphorylates ribose-5-phosphate, 2-deoxy-ribose-5-phosphate, phosphotyrosine, arabinose-5-phosphate, fructose-6-phosphate, 5'-CMP, pNPP, 5'-AMP and glucose-6-phosphate with a decreasing relative rate of 1, 0.9, 0.8, 0.6, 0.5, 0.2, 0.2, 0.2 and 0.06. Dephosphorylates phosphotyrosine with a greater than 100 fold rate over phosphoserine or phosphothreonine.; pH dependence: Optimum pH is 5.3. ; Belongs to the HAD-like hydrolase superfamily. acid phosphatase activity phosphoprotein phosphatase activity protein tyrosine phosphatase activity protein dephosphorylation dephosphorylation hydrolase activity phosphatase activity fructosamine metabolic process peptidyl-tyrosine dephosphorylation metal ion binding uc007uaa.1 uc007uaa.2 uc007uaa.3 
ENSMUST00000002403.10 Dhrs1 ENSMUST00000002403.10 dehydrogenase/reductase 1 (from RefSeq NM_026819.3) D14ertd484e DHRS1_MOUSE Dhrs1 ENSMUST00000002403.1 ENSMUST00000002403.2 ENSMUST00000002403.3 ENSMUST00000002403.4 ENSMUST00000002403.5 ENSMUST00000002403.6 ENSMUST00000002403.7 ENSMUST00000002403.8 ENSMUST00000002403.9 NM_026819 Q3THW0 Q99L04 Q9D148 uc007uan.1 uc007uan.2 uc007uan.3 uc007uan.4 NADPH-dependent oxidoreductase which catalyzes the reduction of some steroids (estrone, androstene-3,17-dione and cortisone) as well as prostaglandin E1, isatin and xenobiotics in vitro. May have a role in steroid and/or xenobiotic metabolism. Reaction=17alpha-estradiol + NADP(+) = estrone + H(+) + NADPH; Xref=Rhea:RHEA:16705, ChEBI:CHEBI:15378, ChEBI:CHEBI:17160, ChEBI:CHEBI:17263, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:16707; Evidence=; Reaction=NADP(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADPH; Xref=Rhea:RHEA:14981, ChEBI:CHEBI:15378, ChEBI:CHEBI:16422, ChEBI:CHEBI:17347, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:14983; Evidence=; Reaction=H(+) + NADPH + prostaglandin E1 = NADP(+) + prostaglandin F1; Xref=Rhea:RHEA:68612, ChEBI:CHEBI:15378, ChEBI:CHEBI:57397, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:178049; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:68613; Evidence=; Reaction=H(+) + isatin + NADPH = 3-hydroxyindolin-2-one + NADP(+); Xref=Rhea:RHEA:68608, ChEBI:CHEBI:15378, ChEBI:CHEBI:27539, ChEBI:CHEBI:28536, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:68609; Evidence=; Endoplasmic reticulum Note=May be attached to the ER membrane by its C-terminus segment. May be attached to the ER membrane by its C-terminus segment. Belongs to the short-chain dehydrogenases/reductases (SDR) family. molecular_function mitochondrion mitochondrial inner membrane endoplasmic reticulum biological_process oxidoreductase activity oxidation-reduction process uc007uan.1 uc007uan.2 uc007uan.3 uc007uan.4 
ENSMUST00000002412.9 Ncan ENSMUST00000002412.9 neurocan (from RefSeq NM_007789.3) A0A0R4IZX5 A0A0R4IZX5_MOUSE ENSMUST00000002412.1 ENSMUST00000002412.2 ENSMUST00000002412.3 ENSMUST00000002412.4 ENSMUST00000002412.5 ENSMUST00000002412.6 ENSMUST00000002412.7 ENSMUST00000002412.8 NM_007789 Ncan uc009lys.1 uc009lys.2 uc009lys.3 uc009lys.4 Belongs to the aggrecan/versican proteoglycan family. Lacks conserved residue(s) required for the propagation of feature annotation. calcium ion binding hyaluronic acid binding cell adhesion uc009lys.1 uc009lys.2 uc009lys.3 uc009lys.4 
ENSMUST00000002413.15 Tmem161a ENSMUST00000002413.15 transmembrane protein 161A, transcript variant 1 (from RefSeq NM_145597.5) ENSMUST00000002413.1 ENSMUST00000002413.10 ENSMUST00000002413.11 ENSMUST00000002413.12 ENSMUST00000002413.13 ENSMUST00000002413.14 ENSMUST00000002413.2 ENSMUST00000002413.3 ENSMUST00000002413.4 ENSMUST00000002413.5 ENSMUST00000002413.6 ENSMUST00000002413.7 ENSMUST00000002413.8 ENSMUST00000002413.9 NM_145597 Q8BNL7 Q8BSL1 Q8C2I8 Q8VCA6 T161A_MOUSE uc009lzc.1 uc009lzc.2 uc009lzc.3 uc009lzc.4 May play a role in protection against oxidative stress. Overexpression leads to reduced levels of oxidant-induced DNA damage and apoptosis (By similarity). Membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8VCA6-1; Sequence=Displayed; Name=2; IsoId=Q8VCA6-2; Sequence=VSP_025644; Name=3; IsoId=Q8VCA6-3; Sequence=VSP_025643, VSP_025645; Belongs to the TMEM161 family. Sequence=BAC40428.1; Type=Erroneous initiation; Evidence=; molecular_function cellular_component membrane integral component of membrane response to retinoic acid cellular response to oxidative stress cellular response to UV positive regulation of DNA repair negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage uc009lzc.1 uc009lzc.2 uc009lzc.3 uc009lzc.4 
ENSMUST00000002418.15 Borcs8 ENSMUST00000002418.15 BLOC-1 related complex subunit 8, transcript variant 2 (from RefSeq NM_001309645.1) BORC8_MOUSE Borcs8 ENSMUST00000002418.1 ENSMUST00000002418.10 ENSMUST00000002418.11 ENSMUST00000002418.12 ENSMUST00000002418.13 ENSMUST00000002418.14 ENSMUST00000002418.2 ENSMUST00000002418.3 ENSMUST00000002418.4 ENSMUST00000002418.5 ENSMUST00000002418.6 ENSMUST00000002418.7 ENSMUST00000002418.8 ENSMUST00000002418.9 NM_001309645 Q9D6Y4 uc009lyy.1 uc009lyy.2 uc009lyy.3 uc009lyy.4 uc009lyy.5 As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN. Lysosome membrane Belongs to the BORCS8 family. molecular_function lysosome lysosomal membrane biological_process membrane BORC complex uc009lyy.1 uc009lyy.2 uc009lyy.3 uc009lyy.4 uc009lyy.5 
ENSMUST00000002436.11 Snx9 ENSMUST00000002436.11 sorting nexin 9 (from RefSeq NM_025664.6) ENSMUST00000002436.1 ENSMUST00000002436.10 ENSMUST00000002436.2 ENSMUST00000002436.3 ENSMUST00000002436.4 ENSMUST00000002436.5 ENSMUST00000002436.6 ENSMUST00000002436.7 ENSMUST00000002436.8 ENSMUST00000002436.9 NM_025664 Q91VH2 SNX9_MOUSE uc008afj.1 uc008afj.2 uc008afj.3 Involved in endocytosis and intracellular vesicle trafficking, both during interphase and at the end of mitosis. Required for efficient progress through mitosis and cytokinesis. Required for normal formation of the cleavage furrow at the end of mitosis. Plays a role in endocytosis via clathrin-coated pits, but also clathrin- independent, actin-dependent fluid-phase endocytosis. Plays a role in macropinocytosis. Promotes internalization of TNFR. Promotes degradation of EGFR after EGF signaling. Stimulates the GTPase activity of DNM1. Promotes DNM1 oligomerization. Promotes activation of the Arp2/3 complex by WASL, and thereby plays a role in the reorganization of the F-actin cytoskeleton (PubMed:23437151). Binds to membranes enriched in phosphatidylinositol 4,5-bisphosphate and promotes membrane tubulation. Has lower affinity for membranes enriched in phosphatidylinositol 3-phosphate (By similarity). Homodimer, and homooligomer. Heterodimer with SNX18. Interacts with ITCH. Interacts (via SH3 domain) with TNK2, WASL and ACTR3. Identified in a complex with TNK2 and clathrin heavy chains. Identified in a complex with the AP-2 complex, clathrin and DNM2. Interacts (via SH3 domain) with DNM1 and DNM2. Identified in an oligomeric complex containing DNM1 and SNX9 (By similarity). Interacts with FCHSD1 (PubMed:23437151). Interacts with ADAM9 and ADAM15 cytoplasmic tails (PubMed:10531379). Q91VH2; Q01968: OCRL; Xeno; NbExp=2; IntAct=EBI-8429356, EBI-6148898; Cytoplasmic vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasmic vesicle, clathrin-coated vesicle Golgi apparatus, trans-Golgi network Cell projection, ruffle Cytoplasm Note=Localized at sites of endocytosis at the cell membrane. Detected on newly formed macropinosomes. Transiently recruited to clathrin-coated pits at a late stage of clathrin-coated vesicle formation (By similarity). Colocalizes with the actin cytoskeleton at the cell membrane (By similarity). Detected in inner ear vestibula and in the cuticular plate of cochlear hair cells (at protein level). The PX domain mediates interaction with membranes enriched in phosphatidylinositol phosphate. Has high affinity for phosphatidylinositol 4,5-bisphosphate, but can also bind to membranes enriched in other phosphatidylinositol phosphates. Phosphorylated on tyrosine residues by TNK2. Phosphorylation promotes its activity in the degradation of EGFR (By similarity). Ubiquitinated by ITCH. Belongs to the sorting nexin family. mitotic cell cycle mitotic cytokinesis ruffle protein binding 1-phosphatidylinositol binding cytoplasm Golgi apparatus trans-Golgi network cytosol plasma membrane intracellular protein transport endocytosis receptor-mediated endocytosis cell cycle lipid binding protein transport membrane endosomal transport clathrin-coated vesicle cytoplasmic vesicle membrane positive regulation of actin filament polymerization extrinsic component of cytoplasmic side of plasma membrane cytoplasmic vesicle ubiquitin protein ligase binding positive regulation of protein oligomerization phosphatidylinositol binding cleavage furrow formation identical protein binding protein homodimerization activity cell projection positive regulation of GTPase activity positive regulation of protein kinase activity positive regulation of membrane protein ectodomain proteolysis cell division lipid tube assembly Arp2/3 complex binding plasma membrane tubulation cuticular plate uc008afj.1 uc008afj.2 uc008afj.3 
ENSMUST00000002444.15 Rfx2 ENSMUST00000002444.15 regulatory factor X, 2 (influences HLA class II expression), transcript variant 1 (from RefSeq NM_027787.2) ENSMUST00000002444.1 ENSMUST00000002444.10 ENSMUST00000002444.11 ENSMUST00000002444.12 ENSMUST00000002444.13 ENSMUST00000002444.14 ENSMUST00000002444.2 ENSMUST00000002444.3 ENSMUST00000002444.4 ENSMUST00000002444.5 ENSMUST00000002444.6 ENSMUST00000002444.7 ENSMUST00000002444.8 ENSMUST00000002444.9 NM_027787 P48379 Q8BXR3 RFX2_MOUSE uc008ddg.1 uc008ddg.2 uc008ddg.3 uc008ddg.4 Transcription factor that acts as a key regulator of spermatogenesis (PubMed:26248850, PubMed:26162102, PubMed:26853561). Acts by regulating expression of genes required for the haploid phase during spermiogenesis, such as genes required for cilium assembly and function (PubMed:26162102, PubMed:26853561). Recognizes and binds the X-box, a regulatory motif with DNA sequence 5'-GTNRCC(0-3N)RGYAAC-3' present on promoters (PubMed:15229132, PubMed:26162102). Probably activates transcription of the testis-specific histone gene H1-6 (PubMed:15229132). Homodimer; probably only forms homodimers in testis (PubMed:15229132). Heterodimer; heterodimerizes with RFX1 and RFX3 (PubMed:15229132). Nucleus toplasm Note=Mainly expressed in the nucleus and at lower level in cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P48379-1; Sequence=Displayed; Name=2; IsoId=P48379-2; Sequence=VSP_037812; Detected in the anterior primitive streak preceding the morphological appearance of the node at 7.0 dpc. Expressed in the node and in the midline notochordal plate cells extending anteriorly from the node at 7.5 dpc. At 8.5 dpc, expressed in the node now located in the tail region. At 9.5 dpc, detected in the floor plate and in the dorsal portion of the neural tube, with highest expression in the anterior portion of the spinal cord. Also expressed in the developing gut. At 10.5 dpc, also observed in the telencephalon region of the brain and in the anterior portion of the limb bud at 12.5 dpc (PubMed:26248850). Localizes to cells at the posterior margin of the ciliated organ of asymmetry (PubMed:22233545). Mice are perfectly viable but show complete male sterility (PubMed:26248850, PubMed:26162102, PubMed:26853561). Spermatogenesis proceeds normally through meiosis. However, haploid cells undergo a complete arrest in spermatid development before spermatid elongation (PubMed:26248850, PubMed:26162102). Arrested cells show altered Golgi apparatus organization, leading to a deficit in the generation of a spreading acrosomal cap from proacrosomal vesicles and merge to form giant multinucleated cells released to the epididymis. Spermatids also completely fail to form the flagellar axoneme (PubMed:26162102). Belongs to the RFX family. RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding acrosome assembly DNA binding transcription factor activity, sequence-specific DNA binding nucleus cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter spermatogenesis spermatid development cell projection organization cell differentiation positive regulation of transcription from RNA polymerase II promoter cilium assembly cellular response to leukemia inhibitory factor uc008ddg.1 uc008ddg.2 uc008ddg.3 uc008ddg.4 
ENSMUST00000002445.10 Ranbp3 ENSMUST00000002445.10 RAN binding protein 3, transcript variant 4 (from RefSeq NR_045519.1) A6H6I9 ENSMUST00000002445.1 ENSMUST00000002445.2 ENSMUST00000002445.3 ENSMUST00000002445.4 ENSMUST00000002445.5 ENSMUST00000002445.6 ENSMUST00000002445.7 ENSMUST00000002445.8 ENSMUST00000002445.9 NR_045519 Q3TIS4 Q3U2G4 Q3UYG7 Q9CT10 RANB3_MOUSE uc008dcv.1 uc008dcv.2 uc008dcv.3 uc008dcv.4 Acts as a cofactor for XPO1/CRM1-mediated nuclear export, perhaps as export complex scaffolding protein. Bound to XPO1/CRM1, stabilizes the XPO1/CRM1-cargo interaction. In the absence of Ran-bound GTP prevents binding of XPO1/CRM1 to the nuclear pore complex. Binds to CHC1/RCC1 and increases the guanine nucleotide exchange activity of CHC1/RCC1. Recruits XPO1/CRM1 to CHC1/RCC1 in a Ran-dependent manner. Negative regulator of TGF-beta signaling through interaction with the R-SMAD proteins, SMAD2 and SMAD3, and mediating their nuclear export (By similarity). Interacts with CHC1 in a Ran-stimulated manner. Interacts with XPO1. Interacts (via its C-terminal R domain) with SMAD2 (dephosphorylated form via its MH1 and MH2 domains); the interaction results in the nuclear export of SMAD2 and termination of the TGF-beta signaling. Interacts (via its C-terminal R domain) with SMAD3 (dephosphorylated form via its MH1 domain); the interaction results in the nuclear export of SMAD3 and termination of the TGF-beta signaling (By similarity). Cytoplasm Nucleus nucleus nuclear pore nucleoplasm cytoplasm protein export from nucleus Ran GTPase binding protein transport positive regulation of GTPase activity intracellular transport R-SMAD binding GTPase activator activity uc008dcv.1 uc008dcv.2 uc008dcv.3 uc008dcv.4 
ENSMUST00000002452.8 Ndufa11 ENSMUST00000002452.8 NADH:ubiquinone oxidoreductase subunit A11 (from RefSeq NM_027244.1) ENSMUST00000002452.1 ENSMUST00000002452.2 ENSMUST00000002452.3 ENSMUST00000002452.4 ENSMUST00000002452.5 ENSMUST00000002452.6 ENSMUST00000002452.7 G5E814 G5E814_MOUSE NM_027244 Ndufa11 uc008dcz.1 uc008dcz.2 uc008dcz.3 uc008dcz.4 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Complex I is composed of 45 different subunits. Mitochondrion inner membrane ; Multi-pass membrane protein ; Matrix side Belongs to the complex I NDUFA11 subunit family. mitochondrial respiratory chain complex I assembly uc008dcz.1 uc008dcz.2 uc008dcz.3 uc008dcz.4 
ENSMUST00000002456.10 Nt5c1b ENSMUST00000002456.10 5'-nucleotidase, cytosolic IB, transcript variant 13 (from RefSeq NR_164205.1) 5NT1B_MOUSE Airp E9QNH2 ENSMUST00000002456.1 ENSMUST00000002456.2 ENSMUST00000002456.3 ENSMUST00000002456.4 ENSMUST00000002456.5 ENSMUST00000002456.6 ENSMUST00000002456.7 ENSMUST00000002456.8 ENSMUST00000002456.9 NR_164205 Q91Y48 Q91YE9 uc007nap.1 uc007nap.2 uc007nap.3 uc007nap.4 Catalyzes the hydrolysis of nucleotide monophosphates, releasing inorganic phosphate and the corresponding nucleoside, AMP is the major substrate. Reaction=a ribonucleoside 5'-phosphate + H2O = a ribonucleoside + phosphate; Xref=Rhea:RHEA:12484, ChEBI:CHEBI:15377, ChEBI:CHEBI:18254, ChEBI:CHEBI:43474, ChEBI:CHEBI:58043; EC=3.1.3.5; Evidence=; Reaction=AMP + H2O = adenosine + phosphate; Xref=Rhea:RHEA:29375, ChEBI:CHEBI:15377, ChEBI:CHEBI:16335, ChEBI:CHEBI:43474, ChEBI:CHEBI:456215; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Activated by ADP. Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q91YE9-1; Sequence=Displayed; Name=2; IsoId=Q91YE9-2; Sequence=VSP_010204, VSP_010205; Expressed at highest levels in testis. Also expressed in brain, skeletal muscle, kidney and heart. Belongs to the 5'-nucleotidase type 3 family. Sequence=AAK39109.1; Type=Erroneous initiation; Evidence=; nucleotide binding magnesium ion binding cytoplasm cytosol 5'-nucleotidase activity nucleoside metabolic process nucleotide metabolic process dephosphorylation hydrolase activity adenosine metabolic process uc007nap.1 uc007nap.2 uc007nap.3 uc007nap.4 
ENSMUST00000002457.2 Bmp8b ENSMUST00000002457.2 bone morphogenetic protein 8b (from RefSeq NM_007559.5) BMP8B_MOUSE ENSMUST00000002457.1 NM_007559 P55105 Q8BNM2 uc008uot.1 uc008uot.2 uc008uot.3 uc008uot.4 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The encoded protein may play a role in the generation of primordial germ cells, and has been shown to stimulate thermogenesis in brown adipose tissue. Male mice lacking a functional copy of this gene exhibit variable degrees of germ-cell deficiency. Homozygous knockout mice of both sexes exhibit impaired thermogenesis and reduced metabolic rate, resulting in weight gain. This gene may have arose from a gene duplication event and its gene duplicate is also present on chromosome 4. [provided by RefSeq, Jul 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U39545.1, AK082895.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849377 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Induces cartilage and bone formation. May be the osteoinductive factor responsible for the phenomenon of epithelial osteogenesis. Plays a role in calcium regulation and bone homeostasis (By similarity). Involved in the generation of primordial germ cells; this function involves Bmp4 in a synergistic manner though separate receptor complexes seem to be involved. Required for the initiation and maintenance of spermatogenesis. Signaling protein involved in regulation of thermogenesis and energy balance. Proposed to increase the peripheral response of brown adipose tissue (BAT) to adrenergic stimulation while acting centrally in the hypothalamus to increase sympathetic output to BAT. Homodimer; disulfide-linked. Secreted Expressed in testis. Expressed in decidual cells of the uterus and in trophoblast cells of the labyrinthine region of the placenta and in the inner root sheath of hair follicles of early postnatal skin. Expressed in the extraembryonic ectoderm in pregastrula and gastrula stage mouse embryos. Expressed in brown adipose tissue and brain. Expressed during specific stages of spermatogenesis, with highest levels in stage 6-8 round spermatids after 3 weeks of age. By feeding with high-fat diet and cold exposure. By beta-3- adrenergic receptor activation and thyroid hormone treatment. Absence of primordial germ cells, short or missing allantois. Belongs to the TGF-beta family. ossification diet induced thermogenesis cytokine activity transforming growth factor beta receptor binding extracellular region extracellular space transforming growth factor beta receptor signaling pathway multicellular organism development germ cell development spermatogenesis growth factor activity positive regulation of pathway-restricted SMAD protein phosphorylation cell differentiation regulation of apoptotic process regulation of MAPK cascade cell development embryonic morphogenesis cartilage development SMAD protein signal transduction energy homeostasis uc008uot.1 uc008uot.2 uc008uot.3 uc008uot.4 
ENSMUST00000002466.9 Nr2f6 ENSMUST00000002466.9 nuclear receptor subfamily 2, group F, member 6, transcript variant 3 (from RefSeq NR_184449.1) ENSMUST00000002466.1 ENSMUST00000002466.2 ENSMUST00000002466.3 ENSMUST00000002466.4 ENSMUST00000002466.5 ENSMUST00000002466.6 ENSMUST00000002466.7 ENSMUST00000002466.8 Ear-2 Ear2 Erbal2 NR2F6_MOUSE NR_184449 P43136 Q61504 Q922G8 uc009mcx.1 uc009mcx.2 uc009mcx.3 Transcription factor predominantly involved in transcriptional repression. Binds to promoter/enhancer response elements that contain the imperfect 5'-AGGTCA-3' direct or inverted repeats with various spacings which are also recognized by other nuclear hormone receptors. Involved in modulation of hormonal responses. Represses transcriptional activity of the lutropin- choriogonadotropic hormone receptor/LHCGR gene, the renin/REN gene and the oxytocin-neurophysin/OXT gene. Represses the triiodothyronine- dependent and -independent transcriptional activity of the thyroid hormone receptor gene in a cell type-specific manner. The corepressing function towards thyroid hormone receptor beta/THRB involves at least in part the inhibition of THRB binding to triiodothyronine response elements (TREs) by NR2F6. Inhibits NFATC transcription factor DNA binding and subsequently its transcriptional activity. Acts as transcriptional repressor of IL-17 expression in Th-17 differentiated CD4(+) T cells and may be involved in induction and/or maintenance of peripheral immunological tolerance and autoimmunity. Involved in development of forebrain circadian clock; is required early in the development of the locus coeruleus (LC). Binds DNA as dimer; homodimer and heterodimer with NR2F2 and probably NR2F1. Interacts with THRB (By similarity). P43136; O35626: Rasd1; NbExp=5; IntAct=EBI-4319956, EBI-4319979; Nucleus Initially expressed at 8.5 dpc in the developing rhombencephalon. At 11.5 dpc expression in the CNS rapidly decreases and in newborn and adult expression is not detectable in the brain with the exceptions of Purkinje neurons and the choroid plexi. Reduction of neurons in the locus coerulus of the developing cortex. Defects in circadian behavior. Hyperreactive lymphocytes, late-onset immunopathology and hypersusceptibility to Th17-dependent experimental autoimmune encephalomyelitis. Belongs to the nuclear hormone receptor family. NR2 subfamily. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter zinc ion binding cell differentiation entrainment of circadian clock by photoperiod steroid hormone mediated signaling pathway sequence-specific DNA binding metal ion binding neuron development anatomical structure development detection of temperature stimulus involved in sensory perception of pain uc009mcx.1 uc009mcx.2 uc009mcx.3 
ENSMUST00000002469.9 Ocel1 ENSMUST00000002469.9 occludin/ELL domain containing 1, transcript variant 1 (from RefSeq NM_029865.2) ENSMUST00000002469.1 ENSMUST00000002469.2 ENSMUST00000002469.3 ENSMUST00000002469.4 ENSMUST00000002469.5 ENSMUST00000002469.6 ENSMUST00000002469.7 ENSMUST00000002469.8 G5E815 G5E815_MOUSE NM_029865 Ocel1 uc009mcu.1 uc009mcu.2 uc009mcu.3 uc009mcu.4 Belongs to the ELL/occludin family. uc009mcu.1 uc009mcu.2 uc009mcu.3 uc009mcu.4 
ENSMUST00000002473.10 Babam1 ENSMUST00000002473.10 BRISC and BRCA1 A complex member 1 (from RefSeq NM_026636.2) BABA1_MOUSE ENSMUST00000002473.1 ENSMUST00000002473.2 ENSMUST00000002473.3 ENSMUST00000002473.4 ENSMUST00000002473.5 ENSMUST00000002473.6 ENSMUST00000002473.7 ENSMUST00000002473.8 ENSMUST00000002473.9 Merit40 NM_026636 Nba1 Q3UI43 Q8C5Q8 Q99JU2 Q9CTJ4 uc009mdb.1 uc009mdb.2 uc009mdb.3 uc009mdb.4 Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'- linked ubiquitin on histones H2A and H2AX. In the BRCA1-A complex, it is required for the complex integrity and its localization at DSBs. Component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates. In these 2 complexes, it is probably required to maintain the stability of BABAM2 and help the 'Lys-63'-linked deubiquitinase activity mediated by BRCC3/BRCC36 component. The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1. Plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression. Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination. Component of the ARISC complex, at least composed of UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1. Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1. In the BRCA1-A complex, interacts directly with ABRAXAS1 and BABAM2. Component of the BRISC complex, at least composed of ABRAXAS2, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1. Identified in a complex with SHMT2 and the other subunits of the BRISC complex. Cytoplasm Nucleus Note=Localizes at sites of DNA damage at double-strand breaks (DSBs). The VWFA-like region is similar to the VWFA domain. Its presence reveals similarities between the structure of the 19S proteasome and the BRCA1-A complexes. Belongs to the BABAM1 family. molecular_function nucleus cytoplasm cytosol DNA repair double-strand break repair chromatin organization cellular response to DNA damage stimulus cell cycle response to ionizing radiation nuclear body positive regulation of DNA repair cell division BRCA1-A complex protein K63-linked deubiquitination BRISC complex hematopoietic stem cell proliferation signal transduction involved in G2 DNA damage checkpoint uc009mdb.1 uc009mdb.2 uc009mdb.3 uc009mdb.4 
ENSMUST00000002487.15 Braf ENSMUST00000002487.15 Braf transforming gene (from RefSeq NM_139294.5) B-raf BRAF_MOUSE Braf E9QNG9 ENSMUST00000002487.1 ENSMUST00000002487.10 ENSMUST00000002487.11 ENSMUST00000002487.12 ENSMUST00000002487.13 ENSMUST00000002487.14 ENSMUST00000002487.2 ENSMUST00000002487.3 ENSMUST00000002487.4 ENSMUST00000002487.5 ENSMUST00000002487.6 ENSMUST00000002487.7 ENSMUST00000002487.8 ENSMUST00000002487.9 F6SZ47 NM_139294 P28028 Q3USE9 uc009bme.1 uc009bme.2 uc009bme.3 Involved in the transduction of mitogenic signals from the cell membrane to the nucleus. Phosphorylates MAP2K1, and thereby activates the MAP kinase signal transduction pathway. Phosphorylates PFKFB2 (By similarity). May play a role in the postsynaptic responses of hippocampal neurons. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) ions per subunit. ; In quiescent cells, maintained in an inactive state via an intramolecular interaction between the protein kinase and N-terminal domains. Following mitogen-mediated cell activation, binds via its RGB domain to active HRAS (GTP-bound) which releases the inhibitory intramolecular interaction between the two domains. This allows the MAP2K1-mediated dimerization of KSR1 or KSR2, and BRAF which activates BRAF. Monomer (By similarity). Homodimer (By similarity). Heterodimerizes with RAF1, and the heterodimer possesses a highly increased kinase activity compared to the respective homodimers or monomers (By similarity). Heterodimerization is mitogen-regulated and enhanced by 14-3-3 proteins. MAPK1/ERK2 activation can induce a negative feedback that promotes the dissociation of the heterodimer by phosphorylating BRAF at Thr-738. Heterodimerizes (via N-terminus) with KSR1 (via N-terminus) or KSR2 (via N-terminus) in a MAP2K1-dependent manner (By similarity). Interacts with MAP2K1 and MAP2K2 (By similarity). Found in a complex with at least BRAF, HRAS, MAP2K1, MAPK3 and RGS14. Interacts with RIT1. Interacts (via N-terminus) with RGS14 (via RBD domains); the interaction mediates the formation of a ternary complex with RAF1, a ternary complex inhibited by GNAI1 (By similarity). Interacts with DGKH (By similarity). Interacts with PRMT5 (By similarity). Interacts with AKAP13, MAP2K1 and KSR1. Identified in a complex with AKAP13, KSR1 and MAP2K1 (PubMed:21102438). Interacts with FNIP1 and FNIP2 (By similarity). P28028; Q99N57: Raf1; NbExp=2; IntAct=EBI-2584830, EBI-397757; P28028; P01111: NRAS; Xeno; NbExp=2; IntAct=EBI-2584830, EBI-721993; Nucleus Cytoplasm Cell membrane Note=Colocalizes with RGS14 and RAF1 in both the cytoplasm and membranes. Event=Alternative splicing; Named isoforms=2; Name=3; IsoId=P28028-3; Sequence=Displayed; Name=1; IsoId=P28028-1; Sequence=VSP_060878, VSP_060879, VSP_060880; Phosphorylation at Ser-348 by SGK1 inhibits its activity. Methylation by PRMT5 decreases stability and kinase activity. Ubiquitinated by RNF149; which leads to proteasomal degradation. Polyubiquitinated at Lys-615 in response to EGF (By similarity). Note=Participates in a chromosomal translocation that produces a Tif1a-BRAF (T18) oncogene originally isolated from a furfural-induced hepatoma. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. RAF subfamily. Sequence=AAA37320.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence=; MAPK cascade nucleotide binding activation of MAPKK activity myeloid progenitor cell differentiation protein kinase activity protein serine/threonine kinase activity MAP kinase kinase kinase activity calcium ion binding protein binding ATP binding nucleus cytoplasm mitochondrion cytosol plasma membrane protein phosphorylation signal transduction visual learning positive regulation of gene expression negative regulation of fibroblast migration positive regulation of glucose transport membrane kinase activity phosphorylation transferase activity Ras GTPase binding cell differentiation thyroid gland development mitogen-activated protein kinase kinase binding positive regulation of peptidyl-serine phosphorylation somatic stem cell population maintenance intracellular signal transduction cellular response to drug regulation of cell proliferation identical protein binding neuron projection negative regulation of apoptotic process intracellular membrane-bounded organelle CD4-positive, alpha-beta T cell differentiation positive T cell selection CD4-positive or CD8-positive, alpha-beta T cell lineage commitment response to peptide hormone negative regulation of neuron apoptotic process cell body regulation of T cell differentiation alpha-beta T cell differentiation metal ion binding protein heterodimerization activity thymus development regulation of axon regeneration positive regulation of axon regeneration positive regulation of axonogenesis T cell receptor signaling pathway protein heterooligomerization positive regulation of stress fiber assembly response to cAMP long-term synaptic potentiation head morphogenesis face development positive regulation of ERK1 and ERK2 cascade trehalose metabolism in response to stress cellular response to calcium ion establishment of protein localization to membrane positive regulation of substrate adhesion-dependent cell spreading cellular response to nerve growth factor stimulus negative regulation of synaptic vesicle exocytosis negative regulation of endothelial cell apoptotic process uc009bme.1 uc009bme.2 uc009bme.3 
ENSMUST00000002495.18 Meis3 ENSMUST00000002495.18 Meis homeobox 3, transcript variant 1 (from RefSeq NM_008627.5) ENSMUST00000002495.1 ENSMUST00000002495.10 ENSMUST00000002495.11 ENSMUST00000002495.12 ENSMUST00000002495.13 ENSMUST00000002495.14 ENSMUST00000002495.15 ENSMUST00000002495.16 ENSMUST00000002495.17 ENSMUST00000002495.2 ENSMUST00000002495.3 ENSMUST00000002495.4 ENSMUST00000002495.5 ENSMUST00000002495.6 ENSMUST00000002495.7 ENSMUST00000002495.8 ENSMUST00000002495.9 MEIS3_MOUSE Mrg2 NM_008627 P97368 Q149R5 Q99L81 uc009fha.1 uc009fha.2 uc009fha.3 uc009fha.4 uc009fha.5 uc009fha.6 The protein encoding this gene belongs to the three amino acid loop extension family of homeodomain transcription factors, which play essential roles in many embryonic processes. These proteins are characterized by an atypical homeodomain containing a three amino acid loop extension between helices 1 and 2. Expression of this gene begins during the compaction stage of embryogenesis and continues into the blastocyst stage. This gene is also expressed in pancreatic islet cells and beta-cells and regulates beta-cell survival. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. Transcriptional regulator which directly modulates PDPK1 expression, thus promoting survival of pancreatic beta-cells. Also regulates expression of NDFIP1, BNIP3, and CCNG1. Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P97368-1; Sequence=Displayed; Name=2; IsoId=P97368-2; Sequence=VSP_012894; Expressed at high levels in the brain. Significant expression also observed in the heart, spleen and lung. Expressed in pancreatic islets (beta-cells and non-beta-cells) (PubMed:21059917). Not expressed until 11 days in embryonic development. Belongs to the TALE/MEIS homeobox family. transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding chromatin binding nucleus regulation of transcription, DNA-templated sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter positive regulation of protein kinase B signaling negative regulation of apoptotic signaling pathway uc009fha.1 uc009fha.2 uc009fha.3 uc009fha.4 uc009fha.5 uc009fha.6 
ENSMUST00000002502.12 Hltf ENSMUST00000002502.12 helicase-like transcription factor, transcript variant 1 (from RefSeq NM_009210.3) ENSMUST00000002502.1 ENSMUST00000002502.10 ENSMUST00000002502.11 ENSMUST00000002502.2 ENSMUST00000002502.3 ENSMUST00000002502.4 ENSMUST00000002502.5 ENSMUST00000002502.6 ENSMUST00000002502.7 ENSMUST00000002502.8 ENSMUST00000002502.9 HLTF_MOUSE NM_009210 O35596 O35597 Q6PCN7 Q80VT6 Smarca3 Snf2l3 Zbu1 uc008osl.1 uc008osl.2 uc008osl.3 uc008osl.4 Has both helicase and E3 ubiquitin ligase activities. Possesses intrinsic ATP-dependent nucleosome-remodeling activity. This activity may be required for transcriptional activation or repression of specific target promoters (By similarity). These may include the SERPINE1, to which this protein can bind directly. Plays a role in error-free postreplication repair (PRR) of damaged DNA and maintains genomic stability through acting as a ubiquitin ligase for 'Lys-63'- linked polyubiquitination of chromatin-bound PCNA (By similarity). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Protein modification; protein ubiquitination. Interacts with SP1 and SP3 independently of DNA; the interaction with these transcriptional factors may be required for basal transcription of target genes. Interacts with EGR1; the interaction requires prior binding to DNA and represses c-Rel via a DNA looping mechanism. Interacts with GATA4. Interacts with PCNA; the interaction promotes polyubiquitination of PCNA through association with the UBE2B-RAD18 and UBE2V2-UBE2N ubiquitin ligase complexes. Interacts with RAD18, SHPRH, UBE2V2 and UBE2N (By similarity). Cytoplasm Nucleus Nucleus, nucleolus Nucleus, nucleoplasm Note=Nuclear localization is stimulated by progesterone. Expressed in brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle. Expressed in the heart from 11.5 dpc. Gradually increases in skeletal muscle to 18.5 dpc. Belongs to the SNF2/RAD54 helicase family. RAD16 subfamily. Sequence=AAB63915.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence=; nucleotide binding RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding catalytic activity helicase activity ATP binding nucleus nucleoplasm nucleolus cytoplasm chromatin organization DNA-dependent ATPase activity metabolic process zinc ion binding protein ubiquitination transferase activity hydrolase activity hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides ubiquitin protein ligase binding positive regulation of transcription from RNA polymerase II promoter metal ion binding ubiquitin protein ligase activity uc008osl.1 uc008osl.2 uc008osl.3 uc008osl.4 
ENSMUST00000002518.9 Tle5 ENSMUST00000002518.9 TLE family member 5, transcriptional modulator, transcript variant 3 (from RefSeq NR_074087.1) Aes ENSMUST00000002518.1 ENSMUST00000002518.2 ENSMUST00000002518.3 ENSMUST00000002518.4 ENSMUST00000002518.5 ENSMUST00000002518.6 ENSMUST00000002518.7 ENSMUST00000002518.8 NR_074087 Q3TYD9 Q3TYD9_MOUSE Tle5 uc007gim.1 uc007gim.2 uc007gim.3 uc007gim.4 This gene encodes a protein that belongs to the Aes (amino-terminal enhancer of split) subgroup of the Groucho/transducin-like Enhancer of split (TLE) family of proteins that function as transcriptional corepressors. The encoded protein plays a role in neurological development and cell-fate determination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2013]. Nucleus Belongs to the WD repeat Groucho/TLE family. negative regulation of transcription from RNA polymerase II promoter transcription corepressor activity nucleus regulation of transcription, DNA-templated negative regulation of gene expression negative regulation of protein binding negative regulation of transcription, DNA-templated negative regulation of response to cytokine stimulus response to interleukin-1 negative regulation of canonical Wnt signaling pathway positive regulation of anoikis uc007gim.1 uc007gim.2 uc007gim.3 uc007gim.4 
ENSMUST00000002529.7 Prpf6 ENSMUST00000002529.7 pre-mRNA splicing factor 6 (from RefSeq NM_133701.2) ENSMUST00000002529.1 ENSMUST00000002529.2 ENSMUST00000002529.3 ENSMUST00000002529.4 ENSMUST00000002529.5 ENSMUST00000002529.6 NM_133701 PRP6_MOUSE Q3ULJ7 Q542P0 Q8CIK9 Q8R3M8 Q91YR7 Q99JN1 Q9CSZ0 uc008omz.1 uc008omz.2 uc008omz.3 Involved in pre-mRNA splicing as component of the U4/U6-U5 tri-snRNP complex, one of the building blocks of the spliceosome. Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but does not affect estrogen-induced transactivation. Identified in the spliceosome B complex. Identified in the spliceosome C complex. Associates with the U5 snRNP particle. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, LSm proteins LSm2-8 and Sm proteins. Interacts with ARAF1. Interacts with AR and NR3C1, but not ESR1, independently of the presence of hormones. Interacts with USH1G. Nucleus, nucleoplasm Nucleus speckle Note=Localized in splicing speckles. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q91YR7-1; Sequence=Displayed; Name=2; IsoId=Q91YR7-2; Sequence=VSP_002063, VSP_002064; spliceosomal tri-snRNP complex assembly mRNA splicing, via spliceosome transcription coactivator activity RNA binding nucleus nucleoplasm spliceosomal complex U5 snRNP RNA processing mRNA processing RNA localization RNA splicing nuclear speck ribonucleoprotein complex binding positive regulation of transcription from RNA polymerase II promoter U4/U6 x U5 tri-snRNP complex androgen receptor binding U2-type precatalytic spliceosome catalytic step 2 spliceosome uc008omz.1 uc008omz.2 uc008omz.3 
ENSMUST00000002533.15 Rgs20 ENSMUST00000002533.15 regulator of G-protein signaling 20, transcript variant 2 (from RefSeq NM_021374.5) ENSMUST00000002533.1 ENSMUST00000002533.10 ENSMUST00000002533.11 ENSMUST00000002533.12 ENSMUST00000002533.13 ENSMUST00000002533.14 ENSMUST00000002533.2 ENSMUST00000002533.3 ENSMUST00000002533.4 ENSMUST00000002533.5 ENSMUST00000002533.6 ENSMUST00000002533.7 ENSMUST00000002533.8 ENSMUST00000002533.9 NM_021374 Q14A97 Q3TY63 Q9CUV8 Q9QZB1 Q9QZB2 RGS20_MOUSE Rgsz1 uc007afk.1 uc007afk.2 uc007afk.3 uc007afk.4 Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds selectively to G(z)-alpha and G(alpha)- i2 subunits, accelerates their GTPase activity and regulates their signaling activities. The G(z)-alpha activity is inhibited by the phosphorylation and palmitoylation of the G-protein. Negatively regulates mu-opioid receptor-mediated activation of the G-proteins. Forms a complex with G(alpha)z/i2 subunits and mu-opioid receptors; the formation of this complex results in mu-opioid receptor desensitization. Interacts with OPRM1 (By similarity). Membrane; Lipid-anchor. Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm/cell membrane and the nucleus Anchored to the membrane through palmitoylation. Fatty acylated. Heavily palmitoylated in the cysteine string motif (By similarity). N- and O-glycosylated in synapsomal membranes. Serine phosphorylated in synapsomal membranes. Sumoylated with SUMO1, SUMO2 and SUMO3. Sumoylation increases binding to the G-proteins, G(alpha)-i2 and G(z), and interaction with mu-opioid receptors. Sequence=BAB28987.2; Type=Erroneous initiation; Evidence=; GTPase activator activity nucleus cytoplasm Golgi apparatus trans-Golgi network G-protein coupled receptor signaling pathway negative regulation of signal transduction membrane positive regulation of GTPase activity uc007afk.1 uc007afk.2 uc007afk.3 uc007afk.4 
ENSMUST00000002551.5 Snrpd1 ENSMUST00000002551.5 small nuclear ribonucleoprotein D1 (from RefSeq NM_009226.4) ENSMUST00000002551.1 ENSMUST00000002551.2 ENSMUST00000002551.3 ENSMUST00000002551.4 NM_009226 P13641 P62315 Q3UYM0 SMD1_MOUSE uc008eaz.1 uc008eaz.2 uc008eaz.3 Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs. May act as a charged protein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions through non-specific electrostatic contacts with RNA. Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Most spliceosomal snRNPs contain a common set of Sm proteins, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. Component of the U1 snRNP. The U1 snRNP is composed of the U1 snRNA and the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG, and at least three U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, SNRPG, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, plus LSM2, LSM3, LSM4, LSM5, LSM6, LSM7 and LSM8. Component of the minor spliceosome, which splices U12-type introns. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG; catalyzes core snRNPs assembly. Forms a 6S pICln-Sm complex composed of CLNS1A/pICln, SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG; ring-like structure where CLNS1A/pICln mimics additional Sm proteins and which is unable to assemble into the core snRNP. Interacts (via C-terminus) with SMN1 (via Tudor domain); the interaction is direct. Interacts with GEMIN2; the interaction is direct. Interacts with SNRPD2; the interaction is direct. Cytoplasm, cytosol Nucleus Note=SMN-mediated assembly into core snRNPs occurs in the cytosol before SMN-mediated transport to the nucleus to be included in spliceosomes. Methylated on arginine residues by PRMT5 and PRMT7; probable asymmetric dimethylation which is required for assembly and biogenesis of snRNPs. Belongs to the snRNP core protein family. commitment complex spliceosomal snRNP assembly mRNA splicing, via spliceosome RNA binding nucleus spliceosomal complex U5 snRNP U1 snRNP U2 snRNP U4 snRNP U12-type spliceosomal complex cytoplasm cytosol RNA processing mRNA processing RNA splicing methylosome pICln-Sm protein complex SMN-Sm protein complex U4/U6 x U5 tri-snRNP complex U2-type precatalytic spliceosome U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome U1 snRNP binding uc008eaz.1 uc008eaz.2 uc008eaz.3 
ENSMUST00000002572.6 Nherf2 ENSMUST00000002572.6 NHERF family PDZ scaffold protein 2, transcript variant A (from RefSeq NM_023055.2) A0A0R4IZX2 A0A0R4IZX2_MOUSE ENSMUST00000002572.1 ENSMUST00000002572.2 ENSMUST00000002572.3 ENSMUST00000002572.4 ENSMUST00000002572.5 NM_023055 Nherf2 Slc9a3r2 uc008axk.1 uc008axk.2 uc008axk.3 uc008axk.4 Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Cell membrane Endomembrane system eripheral membrane protein receptor binding plasma membrane beta-catenin binding protein C-terminus binding endomembrane system membrane phosphatase binding binding, bridging uc008axk.1 uc008axk.2 uc008axk.3 uc008axk.4 
ENSMUST00000002599.11 Puf60 ENSMUST00000002599.11 poly-U binding splicing factor 60, transcript variant 2 (from RefSeq NM_133691.6) ENSMUST00000002599.1 ENSMUST00000002599.10 ENSMUST00000002599.2 ENSMUST00000002599.3 ENSMUST00000002599.4 ENSMUST00000002599.5 ENSMUST00000002599.6 ENSMUST00000002599.7 ENSMUST00000002599.8 ENSMUST00000002599.9 NM_133691 PUF60_MOUSE Puf60 Q3TGC6 Q3UEB3 Q91VR6 Siahbp1 uc007wik.1 uc007wik.2 uc007wik.3 uc007wik.4 DNA- and RNA-binding protein, involved in several nuclear processes such as pre-mRNA splicing, apoptosis and transcription regulation. In association with FUBP1 regulates MYC transcription at the P2 promoter through the core-TFIIH basal transcription factor. Acts as a transcriptional repressor through the core-TFIIH basal transcription factor. Represses FUBP1-induced transcriptional activation but not basal transcription. Decreases ERCC3 helicase activity. Is also involved in pre-mRNA splicing. Promotes splicing of an intron with weak 3'-splice site and pyrimidine tract in a cooperative manner with U2AF2. Involved in apoptosis induction when overexpressed in HeLa cells. Modulates alternative splicing of several mRNAs. Binds to relaxed DNA of active promoter regions. Binds to the pyrimidine tract and 3'-splice site regions of pre-mRNA; binding is enhanced in presence of U2AF2. Binds to Y5 RNA in association with RO60. Binds to poly(U) RNA (By similarity). Homodimer (By similarity). Associates with the spliceosome (By similarity). Found in a complex with RO60 and Y5 RNA (By similarity). Found in a complex with FUBP1 and far upstream element (FUSE) DNA segment (By similarity). Interacts directly with ERCC3. Interacts with CDK7 and GTF2H1 (By similarity). Interacts with SRSF11/P54 (By similarity). Nucleus Note=Colocalizes partially with RO60. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q3UEB3-1; Sequence=Displayed; Name=2; IsoId=Q3UEB3-2; Sequence=VSP_027721; Name=3; IsoId=Q3UEB3-3; Sequence=VSP_027720, VSP_027721; The third RNA recognition motif, called PUMP domain, is atypical and may rather mediate homodimerization and/or protein-protein interactions. Belongs to the RRM half pint family. nucleic acid binding DNA binding RNA binding nucleus nucleoplasm mRNA processing apoptotic process RNA splicing cell junction identical protein binding uc007wik.1 uc007wik.2 uc007wik.3 uc007wik.4 
ENSMUST00000002603.12 Scrib ENSMUST00000002603.12 scribbled planar cell polarity, transcript variant 1 (from RefSeq NM_134089.2) ENSMUST00000002603.1 ENSMUST00000002603.10 ENSMUST00000002603.11 ENSMUST00000002603.2 ENSMUST00000002603.3 ENSMUST00000002603.4 ENSMUST00000002603.5 ENSMUST00000002603.6 ENSMUST00000002603.7 ENSMUST00000002603.8 ENSMUST00000002603.9 Kiaa0147 Lap4 NM_134089 Q6P5H7 Q7TPH8 Q80U72 Q80VB1 Q8CI48 Q8VII1 Q922S3 SCRIB_MOUSE Scrib1 uc007wig.1 uc007wig.2 uc007wig.3 uc007wig.4 Scaffold protein involved in different aspects of polarized cell differentiation regulating epithelial and neuronal morphogenesis and T-cell polarization (PubMed:12499390, PubMed:18716323, PubMed:19041750, PubMed:18329370). Via its interaction with CRTAM, required for the late phase polarization of a subset of CD4+ T-cells, which in turn regulates TCR-mediated proliferation and IFNG and IL22 production (PubMed:18329370). Most probably functions in the establishment of apico-basal cell polarity (PubMed:19041750). May function in cell proliferation regulating progression from G1 to S phase and as a positive regulator of apoptosis for instance during acinar morphogenesis of the mammary epithelium (PubMed:19041750). May also function in cell migration and adhesion and hence regulate cell invasion through MAPK signaling (PubMed:18716323). May play a role in exocytosis and in the targeting of synaptic vesicles to synapses (PubMed:19458197). Functions as an activator of Rac GTPase activity. Interacts with UBE3A (By similarity). Interacts with PAK1 and PAK2 (PubMed:18716323). Interacts (via PDZ domains) with VANGL2 (PubMed:16687519). Interacts (via PDZ domains) with LPP and TRIP6; the interaction is direct (By similarity). Interacts (via PDZ domains) with TJP2 (By similarity). Interacts (via PDZ domains) with APC; may mediate APC targeting to adherens junctions of epithelial cells (PubMed:16611247). Interacts (via PDZ domains) with TSHR; regulates TSHR trafficking and function (By similarity). Interacts with ARHGEF7 and GIT1; interacts directly with ARHGEF7 (PubMed:15182672). Interacts with CTNNB1 (PubMed:16611247, PubMed:19458197). Interacts with MAPK12 (PubMed:15878399). Interacts (via PDZ domains 1 and 3) with MCC (By similarity). Interacts with DLG5 (By similarity). Interacts with STK4/MST1 and LATS1 in the presence of DLG5 (By similarity). Interacts (via PDZ domain 3) with CRTAM (via PDZ-binding motif); the interaction promotes CRTAM and SCRIB polarization in a subset of CD4+ T-cells (PubMed:18329370). Q80U72; Q149L7: Crtam; NbExp=4; IntAct=EBI-1766028, EBI-1766072; Q80U72; O60346: PHLPP1; Xeno; NbExp=2; IntAct=EBI-1766028, EBI-2511516; Cell membrane ; Peripheral membrane protein Cell junction Cell junction, adherens junction Cell projection, lamellipodium Cytoplasm Postsynapse Presynapse Note=Targeting to cell-cell junctions which is CDH1-dependent is required for the pro-apoptotic activity (By similarity). In a subset of CD4+ T-cells, colocalizes with CRTAM at the immunological synapse during the late phase of T-cell activation (PubMed:18329370). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q80U72-1; Sequence=Displayed; Name=2; IsoId=Q80U72-2; Sequence=VSP_010911; Name=3; IsoId=Q80U72-3; Sequence=VSP_010910, VSP_010911; Name=4; IsoId=Q80U72-4; Sequence=VSP_010909, VSP_010910; Expressed in CD4+ T-cells (at protein level) (PubMed:18329370). Found in a wide range of tissues including liver, kidney and spleen (PubMed:15806148). Also expressed in the brain (at protein level) (PubMed:15182672, PubMed:15806148). First detected at 7.5 dpc in the neuroepithelium at the time of initial neural tube closure. Also expressed in cranial mesenchyme, branchial arches, somitic mesoderm and lateral mesoderm. At later stages it is expressed in the eyelid epithelium, submandibular glands, whisker and hair follicles, sympathetic glanglia, inner ear, thymus, testis, kidney, esophagus, lung, stomach, trigeminal and dorsal root glanglia. Ubiquitinated; targeted for UBE3A-dependent multiubiquitination and degraded. Palmitoylated. Could be depalmitoylated by LYPLA1 and/or LYPLA2. Palmitoylation of SCRIB by ZDHHC7 is required for its localization to cell-cell junctions, function in the establishement of epithelial cell polarity and the regulation of downstream signaling pathways important for epithelial cell differentiation. The circletail (Crc) mice exhibit craniorachischisis, a severe form of neural tube defect. This is due to a single base insertion in the Scrib gene creating a frameshift which leads to synthesis of a truncated protein. Belongs to the LAP (LRR and PDZ) protein family. Sequence=BAC65493.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; neural tube closure positive regulation of receptor recycling auditory receptor cell morphogenesis epithelial cell morphogenesis protein binding nucleoplasm cytoplasm cytosol plasma membrane cell-cell junction adherens junction cell-cell adherens junction multicellular organism development protein localization cell proliferation postsynaptic density membrane synaptic vesicle targeting basolateral plasma membrane apical plasma membrane morphogenesis of embryonic epithelium cell migration cochlear nucleus development lamellipodium cell junction cell differentiation cell leading edge Scrib-APC-beta-catenin complex establishment of apical/basal cell polarity ionotropic glutamate receptor binding myelin sheath abaxonal region post-anal tail morphogenesis wound healing presynaptic membrane cell projection positive regulation of apoptotic process receptor clustering astrocyte cell migration cell-cell contact zone establishment or maintenance of epithelial cell apical/basal polarity synapse postsynaptic membrane negative regulation of mitotic cell cycle synaptic vesicle endocytosis camera-type eye morphogenesis positive chemotaxis auditory receptor cell stereocilium organization inner ear receptor stereocilium organization apoptotic process involved in morphogenesis mammary gland duct morphogenesis protein localization to adherens junction activation of GTPase activity receptor localization to synapse cell-cell adhesion neurotransmitter receptor transport, endosome to postsynaptic membrane neurotransmitter receptor transport postsynaptic membrane to endosome glutamatergic synapse vesicle-mediated transport in synapse ionotropic glutamate receptor complex uc007wig.1 uc007wig.2 uc007wig.3 uc007wig.4 
ENSMUST00000002625.15 Uck1 ENSMUST00000002625.15 uridine-cytidine kinase 1, transcript variant 3 (from RefSeq NM_011675.2) A2AN37 A2AN37_MOUSE ENSMUST00000002625.1 ENSMUST00000002625.10 ENSMUST00000002625.11 ENSMUST00000002625.12 ENSMUST00000002625.13 ENSMUST00000002625.14 ENSMUST00000002625.2 ENSMUST00000002625.3 ENSMUST00000002625.4 ENSMUST00000002625.5 ENSMUST00000002625.6 ENSMUST00000002625.7 ENSMUST00000002625.8 ENSMUST00000002625.9 NM_011675 Uck1 uc008jes.1 uc008jes.2 uc008jes.3 uc008jes.4 Reaction=ATP + cytidine = ADP + CMP + H(+); Xref=Rhea:RHEA:24674, ChEBI:CHEBI:15378, ChEBI:CHEBI:17562, ChEBI:CHEBI:30616, ChEBI:CHEBI:60377, ChEBI:CHEBI:456216; EC=2.7.1.48; Evidence= Reaction=ATP + uridine = ADP + H(+) + UMP; Xref=Rhea:RHEA:16825, ChEBI:CHEBI:15378, ChEBI:CHEBI:16704, ChEBI:CHEBI:30616, ChEBI:CHEBI:57865, ChEBI:CHEBI:456216; EC=2.7.1.48; Evidence= Pyrimidine metabolism; CTP biosynthesis via salvage pathway; CTP from cytidine: step 1/3. Pyrimidine metabolism; UMP biosynthesis via salvage pathway; UMP from uridine: step 1/1. Belongs to the uridine kinase family. nucleotide binding uridine kinase activity ATP binding kinase activity phosphorylation transferase activity nucleoside kinase activity UMP salvage CTP salvage uc008jes.1 uc008jes.2 uc008jes.3 uc008jes.4 
ENSMUST00000002640.6 Scin ENSMUST00000002640.6 scinderin, transcript variant 1 (from RefSeq NM_001146196.1) ENSMUST00000002640.1 ENSMUST00000002640.2 ENSMUST00000002640.3 ENSMUST00000002640.4 ENSMUST00000002640.5 NM_001146196 O08988 O08990 Q60604 Q6P4N8 SCIN_MOUSE uc007nkw.1 uc007nkw.2 uc007nkw.3 uc007nkw.4 uc007nkw.5 Ca(2+)-dependent actin filament-severing protein that has a regulatory function in exocytosis by affecting the organization of the microfilament network underneath the plasma membrane (PubMed:9671468). Severing activity is inhibited by phosphatidylinositol 4,5-bis- phosphate (PIP2) (By similarity). In vitro, also has barbed end capping and nucleating activities in the presence of Ca(2+) (PubMed:9671468). Required for megakaryocyte differentiation, maturation, polyploidization and apoptosis with the release of platelet-like particles (By similarity). Plays a role in osteoclastogenesis (OCG) and actin cytoskeletal organization in osteoclasts (PubMed:25275604, PubMed:25681458). Regulates chondrocyte proliferation and differentiation (By similarity). Inhibits cell proliferation and tumorigenesis. Signaling is mediated by MAPK, p38 and JNK pathways (By similarity). [Isoform 2]: Fails to nucleate actin polymerization, although it severs and caps actin filaments in a Ca(2+)-dependent manner. Cytoplasm, cytoskeleton Cell projection, podosome Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q60604-1; Sequence=Displayed; Name=2; Synonyms=D5 ; IsoId=Q60604-2; Sequence=VSP_006730; Ubiquitous. Highly expressed in mature osteoclasts (at protein level) (PubMed:25275604). Isoform 2 is expressed in blood cells (PubMed:9671468). Expression is induced during osteoclastogenesis. Knockdown in bone marrow monocytes protect mice from bone resorption in periodontal disease model. Belongs to the villin/gelsolin family. podosome actin binding calcium ion binding cytoplasm cytoskeleton plasma membrane brush border negative regulation of cell proliferation cell junction regulation of chondrocyte differentiation macromolecular complex sequestering of actin monomers cell projection positive regulation of apoptotic process positive regulation of megakaryocyte differentiation metal ion binding actin filament severing actin filament binding positive regulation of actin nucleation actin filament capping uc007nkw.1 uc007nkw.2 uc007nkw.3 uc007nkw.4 uc007nkw.5 
ENSMUST00000002655.8 Mien1 ENSMUST00000002655.8 migration and invasion enhancer 1 (from RefSeq NM_025559.2) A2A556 ENSMUST00000002655.1 ENSMUST00000002655.2 ENSMUST00000002655.3 ENSMUST00000002655.4 ENSMUST00000002655.5 ENSMUST00000002655.6 ENSMUST00000002655.7 MIEN1_MOUSE NM_025559 Q9CQ86 Rdx12 uc007lgj.1 uc007lgj.2 uc007lgj.3 Increases cell migration by inducing filopodia formation at the leading edge of migrating cells. Plays a role in regulation of apoptosis, possibly through control of CASP3. May be involved in a redox-related process (By similarity). Interacts with GPX1. Cytoplasm, cytosol Cell membrane ; Lipid-anchor ; Cytoplasmic side Note=Concentrates at the leading edge of migrating cells. Localizes outside membrane raft regions (By similarity). Widely expressed with highest levels in kidney followed by brain and testis. Isoprenylation facilitates association with the plasma membrane and enhances the migratory phenotype of cells by inducing increased filopodia formation. Belongs to the SelWTH family. protein binding cytoplasm cytosol plasma membrane apoptotic process membrane positive regulation of cell migration intrinsic component of the cytoplasmic side of the plasma membrane negative regulation of apoptotic process positive regulation of filopodium assembly uc007lgj.1 uc007lgj.2 uc007lgj.3 
ENSMUST00000002663.12 Pon1 ENSMUST00000002663.12 paraoxonase 1, transcript variant 1 (from RefSeq NM_011134.4) ENSMUST00000002663.1 ENSMUST00000002663.10 ENSMUST00000002663.11 ENSMUST00000002663.2 ENSMUST00000002663.3 ENSMUST00000002663.4 ENSMUST00000002663.5 ENSMUST00000002663.6 ENSMUST00000002663.7 ENSMUST00000002663.8 ENSMUST00000002663.9 NM_011134 P52430 PON1_MOUSE Pon Q91X30 uc009awd.1 uc009awd.2 uc009awd.3 Hydrolyzes the toxic metabolites of a variety of organophosphorus insecticides. Capable of hydrolyzing a broad spectrum of organophosphate substrates and lactones, and a number of aromatic carboxylic acid esters. Mediates an enzymatic protection of low density lipoproteins against oxidative modification. Reaction=a phenyl acetate + H2O = a phenol + acetate + H(+); Xref=Rhea:RHEA:17309, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:33853, ChEBI:CHEBI:140310; EC=3.1.1.2; Evidence=; Reaction=An aryl dialkyl phosphate + H2O = dialkyl phosphate + an aryl alcohol.; EC=3.1.8.1; Evidence=; Reaction=an N-acyl-L-homoserine lactone + H2O = an N-acyl-L-homoserine + H(+); Xref=Rhea:RHEA:22576, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:55474, ChEBI:CHEBI:58921; EC=3.1.1.81; Evidence=; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Note=Binds 2 calcium ions per subunit. ; Homodimer. Interacts with CLU. Secreted, extracellular space. Plasma, liver, kidney, heart, brain, small intestine and lung. In the plasma, associated with HDL. The signal sequence is not cleaved. The preferential association of PON1 with HDL is mediated in part by its signal peptide, by binding phospholipids directly, rather than binding apo AI. The retained signal peptide may allow transfer of the protein between phospholipid surfaces. Belongs to the paraoxonase family. aryldialkylphosphatase activity arylesterase activity calcium ion binding phospholipid binding extracellular region extracellular space lipid metabolic process blood circulation high-density lipoprotein particle binding cholesterol metabolic process response to toxic substance positive regulation of cholesterol efflux dephosphorylation hydrolase activity aromatic compound catabolic process response to nutrient levels positive regulation of transporter activity high-density lipoprotein particle spherical high-density lipoprotein particle protein homodimerization activity intracellular membrane-bounded organelle carboxylic acid catabolic process organophosphate catabolic process phosphatidylcholine metabolic process metal ion binding positive regulation of binding response to fatty acid acyl-L-homoserine-lactone lactonohydrolase activity response to fluoride uc009awd.1 uc009awd.2 uc009awd.3 
ENSMUST00000002677.11 Axl ENSMUST00000002677.11 AXL receptor tyrosine kinase, transcript variant 1 (from RefSeq NM_009465.4) Ark ENSMUST00000002677.1 ENSMUST00000002677.10 ENSMUST00000002677.2 ENSMUST00000002677.3 ENSMUST00000002677.4 ENSMUST00000002677.5 ENSMUST00000002677.6 ENSMUST00000002677.7 ENSMUST00000002677.8 ENSMUST00000002677.9 NM_009465 Q00993 Q80YQ3 UFO_MOUSE Ufo uc009ftx.1 uc009ftx.2 uc009ftx.3 uc009ftx.4 Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding growth factor GAS6 and which is thus regulating many physiological processes including cell survival, cell proliferation, migration and differentiation. Ligand binding at the cell surface induces dimerization and autophosphorylation of AXL. Following activation by ligand, AXL binds and induces tyrosine phosphorylation of PI3-kinase subunits PIK3R1, PIK3R2 and PIK3R3; but also GRB2, PLCG1, LCK and PTPN11. Other downstream substrate candidates for AXL are CBL, NCK2, SOCS1 and TNS2. Recruitment of GRB2 and phosphatidylinositol 3 kinase regulatory subunits by AXL leads to the downstream activation of the AKT kinase. GAS6/AXL signaling plays a role in various processes such as endothelial cell survival during acidification by preventing apoptosis, optimal cytokine signaling during human natural killer cell development, hepatic regeneration, gonadotropin-releasing hormone neuron survival and migration, platelet activation, or regulation of thrombotic responses. Also plays an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response. Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence=; Activated by GAS6-binding and subsequent autophosphorylation. Heterodimer and heterotetramer with ligand GAS6 (By similarity). Interacts with CBL, GRB2, LCK, NCK2, PIK3R1, PIK3R2, PIK3R3, PLCG1, SOCS1 and TNS2. Part of a complex including AXL, TNK2 and GRB2, in which GRB2 promotes AXL recruitment by TNK2 (By similarity). Cell membrane ; Single-pass type I membrane protein In distinct substructures of a broad spectrum of developing tissues (in the late embryogenesis). In cells forming organ capsules as well as in connective tissue structures (in adult). Monoubiquitinated upon GAS6-binding. A very small proportion of the receptor could be subjected to polyubiquitination in a very transient fashion (By similarity). Phosphorylated at tyrosine residues by autocatalysis, which activates kinase activity. Belongs to the protein kinase superfamily. Tyr protein kinase family. AXL/UFO subfamily. nucleotide binding neuron migration natural killer cell differentiation phosphatidylserine binding negative regulation of cytokine production positive regulation of cytokine-mediated signaling pathway blood vessel remodeling immune system process protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity ATP binding extracellular space plasma membrane integral component of plasma membrane protein phosphorylation phagocytosis inflammatory response enzyme linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway spermatogenesis nervous system development cell surface membrane integral component of membrane kinase activity phosphorylation cell migration transferase activity peptidyl-tyrosine phosphorylation forebrain cell migration cell differentiation platelet activation animal organ regeneration cellular response to extracellular stimulus myosin heavy chain binding negative regulation of interferon-gamma production negative regulation of tumor necrosis factor production positive regulation of natural killer cell differentiation secretion by cell erythrocyte homeostasis substrate adhesion-dependent cell spreading cellular response to interferon-alpha ovulation cycle negative regulation of apoptotic process receptor complex apoptotic cell clearance protein kinase B signaling negative regulation of neuron apoptotic process phosphatidylinositol 3-kinase binding host cell surface innate immune response viral entry into host cell protein heterodimerization activity cell maturation positive regulation of pinocytosis negative regulation of lymphocyte activation positive regulation of protein kinase B signaling vagina development cellular response to hydrogen peroxide cellular response to lipopolysaccharide dendritic cell differentiation neutrophil clearance negative regulation of dendritic cell apoptotic process uc009ftx.1 uc009ftx.2 uc009ftx.3 uc009ftx.4 
ENSMUST00000002678.10 Tgfb1 ENSMUST00000002678.10 transforming growth factor, beta 1 (from RefSeq NM_011577.2) ENSMUST00000002678.1 ENSMUST00000002678.2 ENSMUST00000002678.3 ENSMUST00000002678.4 ENSMUST00000002678.5 ENSMUST00000002678.6 ENSMUST00000002678.7 ENSMUST00000002678.8 ENSMUST00000002678.9 NM_011577 Q3UNK5 Q3UNK5_MOUSE Tgfb1 uc009ftq.1 uc009ftq.2 uc009ftq.3 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. Mice lacking a functional copy of this gene develop severe multifocal inflammatory disease, yolk sac defects and colon cancer. [provided by RefSeq, Aug 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ009862.1, AK144163.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively. Homodimer; disulfide-linked. Secreted, extracellular space, extracellular matrix Belongs to the TGF-beta family. MAPK cascade response to hypoxia morphogenesis of a branching structure epithelial to mesenchymal transition negative regulation of protein phosphorylation positive regulation of protein phosphorylation chondrocyte differentiation hematopoietic progenitor cell differentiation aortic valve morphogenesis antigen binding type II transforming growth factor beta receptor binding transforming growth factor beta receptor binding protein binding extracellular region extracellular space nucleus cytoplasm microvillus protein phosphorylation protein export from nucleus ATP biosynthetic process phosphate-containing compound metabolic process inflammatory response cell cycle arrest mitotic cell cycle checkpoint epidermal growth factor receptor signaling pathway transforming growth factor beta receptor signaling pathway common-partner SMAD protein phosphorylation SMAD protein complex assembly negative regulation of neuroblast proliferation salivary gland morphogenesis female pregnancy aging growth factor activity positive regulation of cell proliferation negative regulation of cell proliferation response to radiation response to wounding response to glucose defense response to fungus, incompatible interaction cell surface response to organic substance positive regulation of gene expression negative regulation of gene expression positive regulation of epithelial to mesenchymal transition positive regulation of fibroblast migration positive regulation of peptidyl-threonine phosphorylation positive regulation of pathway-restricted SMAD protein phosphorylation negative regulation of macrophage cytokine production response to organic cyclic compound cell migration regulation of transforming growth factor beta receptor signaling pathway evasion or tolerance of host defenses by virus enzyme binding negative regulation of cell-cell adhesion secretory granule hyaluronan catabolic process negative regulation of cell growth positive regulation of cell migration axon positive regulation of bone mineralization animal organ regeneration membrane protein intracellular domain proteolysis positive regulation of protein complex assembly positive regulation of exit from mitosis lipopolysaccharide-mediated signaling pathway positive regulation of cellular protein metabolic process response to estradiol response to progesterone positive regulation of interleukin-17 production receptor catabolic process positive regulation of superoxide anion generation positive regulation of collagen biosynthetic process positive regulation of peptidyl-serine phosphorylation response to vitamin D response to laminar fluid shear stress type I transforming growth factor beta receptor binding type III transforming growth factor beta receptor binding positive regulation of protein dephosphorylation response to immobilization stress wound healing positive regulation of protein import into nucleus response to drug myelination identical protein binding protein homodimerization activity neuronal cell body positive regulation of apoptotic process positive regulation of vascular permeability positive regulation of MAP kinase activity protein kinase B signaling positive regulation of blood vessel endothelial cell migration negative regulation of blood vessel endothelial cell migration positive regulation of phosphatidylinositol 3-kinase activity ossification involved in bone remodeling cell-cell junction organization negative regulation of cell differentiation negative regulation of fat cell differentiation negative regulation of myoblast differentiation negative regulation of cell cycle negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated negative regulation of cytolysis negative regulation of mitotic cell cycle positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein N-terminus binding positive regulation of isotype switching to IgA isotypes digestive tract development negative regulation of skeletal muscle tissue development inner ear development positive regulation of epithelial cell proliferation negative regulation of epithelial cell proliferation positive regulation of protein secretion positive regulation of peptidyl-tyrosine phosphorylation negative regulation of phagocytosis negative regulation of immune response positive regulation of chemotaxis positive regulation of NF-kappaB transcription factor activity positive regulation of smooth muscle cell differentiation negative regulation of release of sequestered calcium ion into cytosol positive regulation of cell division positive regulation of protein kinase B signaling frontal suture morphogenesis pathway-restricted SMAD protein phosphorylation regulation of SMAD protein import into nucleus positive regulation of SMAD protein import into nucleus negative regulation of gene silencing by miRNA negative regulation of biomineral tissue development positive regulation of ERK1 and ERK2 cascade response to cholesterol cellular response to mechanical stimulus cellular response to organic cyclic compound cellular response to ionizing radiation cellular response to dexamethasone stimulus cellular response to transforming growth factor beta stimulus positive regulation of mononuclear cell migration blood microparticle extracellular matrix assembly positive regulation of branching involved in ureteric bud morphogenesis extrinsic apoptotic signaling pathway liver regeneration negative regulation of hyaluronan biosynthetic process positive regulation of protein localization to nucleus positive regulation of NAD+ ADP-ribosyltransferase activity response to salt positive regulation of pri-miRNA transcription from RNA polymerase II promoter negative regulation of protein localization to plasma membrane negative regulation of production of miRNAs involved in gene silencing by miRNA positive regulation of production of miRNAs involved in gene silencing by miRNA cellular response to insulin-like growth factor stimulus positive regulation of transcription regulatory region DNA binding positive regulation of cardiac muscle cell differentiation uc009ftq.1 uc009ftq.2 uc009ftq.3 
ENSMUST00000002683.3 Ccdc97 ENSMUST00000002683.3 coiled-coil domain containing 97, transcript variant 6 (from RefSeq NR_160796.1) CCD97_MOUSE D7Ertd462e ENSMUST00000002683.1 ENSMUST00000002683.2 NR_160796 Q922V3 Q9DBT3 uc009ftr.1 uc009ftr.2 uc009ftr.3 May play a role pre-mRNA splicing through the association with the splicing factor SF3B complex which is involved in branch-site recognition. Associates with splicing factor SF3B complex, involved in branch-site recognition. Nucleus molecular_function biological_process uc009ftr.1 uc009ftr.2 uc009ftr.3 
ENSMUST00000002699.7 Akap8 ENSMUST00000002699.7 A kinase anchor protein 8, transcript variant 1 (from RefSeq NM_019774.5) AKAP8_MOUSE Akap95 ENSMUST00000002699.1 ENSMUST00000002699.2 ENSMUST00000002699.3 ENSMUST00000002699.4 ENSMUST00000002699.5 ENSMUST00000002699.6 NM_019774 Q9DBR0 Q9R0L8 uc008bwg.1 uc008bwg.2 uc008bwg.3 uc008bwg.4 uc008bwg.5 This gene encodes a member of the A-kinase anchoring protein (AKAP) family. These proteins are characterized by their ability to bind to the R subunit of protein kinase A (PKA) and anchor the protein at different subcellular locations. This protein has been shown to regulate apoptosis and to be involved in palatogenesis. Knockdown of this gene has been associated with altered histone modifications and reduced expression of developmental genes in mouse embryonic stem cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]. Anchoring protein that mediates the subcellular compartmentation of cAMP-dependent protein kinase (PKA type II). Acts as an anchor for a PKA-signaling complex onto mitotic chromosomes, which is required for maintenance of chromosomes in a condensed form throughout mitosis. Recruits condensin complex subunit NCAPD2 to chromosomes required for chromatin condensation; the function appears to be independent from PKA-anchoring (By similarity). Specifically involved in recruitment of CAPD2 to, and condensation of maternal but not paternal chromosomes (PubMed:12082153). May help to deliver cyclin D/E to CDK4 to facilitate cell cycle progression (PubMed:14641107). Required for cell cycle G2/M transition and histone deacetylation during mitosis. In mitotic cells recruits HDAC3 to the vicinity of chromatin leading to deacetylation and subsequent phosphorylation at 'Ser-10' of histone H3; in this function may act redundantly with AKAP8L. Involved in nuclear retention of RPS6KA1 upon ERK activation thus inducing cell proliferation. May be involved in regulation of DNA replication by acting as scaffold for MCM2. Enhances HMT activity of the KMT2 family MLL4/WBP7 complex and is involved in transcriptional regulation. In a teratocarcinoma cell line is involved in retinoic acid-mediated induction of developmental genes implicating H3 'Lys-4' methylation. May be involved in recruitment of active CASP3 to the nucleus in apoptotic cells. May act as a carrier protein of GJA1 for its transport to the nucleus. May play a repressive role in the regulation of rDNA transcription. Preferentially binds GC-rich DNA in vitro. In cells, associates with ribosomal RNA (rRNA) chromatin, preferentially with rRNA promoter and transcribed regions (By similarity). Involved in modulation of Toll-like receptor signaling. Required for the cAMP-dependent suppression of TNF-alpha in early stages of LPS-induced macrophage activation; the function probably implicates targeting of PKA to NFKB1 (PubMed:19531803). Binds to the PKA RII-alpha regulatory subunit PRKAR2A (By similarity). Interacts (via C-terminus) with FIGN (PubMed:16751186). Interacts with NCAPD2, CCND3, CCNE1, MCM2, RPS6KA1, DDX5, PDE4A (By similarity). Interacts with MYCBP; MYCBP is translocated to the nucleus and the interaction prevents the association of the PKA catalytic subunit leading to suppression of PKA activity (PubMed:12414807). Interacts with CCND1, CASP3 (PubMed:14641107, PubMed:16227597). Interacts with NFKB1; detetcted in the cytoplasm (PubMed:19531803). Interacts with DPY30; mediating AKAP8 association with at least the MLL4/WBP7 HMT complex. Interacts with HDAC3; increased during mitosis. Interacts with GJA1; in the nucleus and in the nuclear membrane; the nuclear association increases with progress of cell cycle G1, S and G2 phase and decreases in M phase (By similarity). Q9DBR0; Q9ERZ6: Fign; NbExp=4; IntAct=EBI-4285802, EBI-11111349; Q9DBR0; P25799: Nfkb1; NbExp=4; IntAct=EBI-4285802, EBI-643958; Nucleus matrix Nucleus, nucleolus Cytoplasm Note=Associated with the nuclear matrix (By similarity). Exhibits partial localization to the nucleolus in interphase, possibly to the fibrillary center and/or to the dense fibrillary component (By similarity). Redistributed and detached from condensed chromatin during mitosis (By similarity). Localizes specifically to the vicinity of the meiotic spindle in metaphase II oocytes (PubMed:12082153). Weakly expressed in metaphase II oocytes. Strongly up-regulated after fertilization at the pronuclear stage and restricted to the female pronucleus. Subsequently localized to the nucleus of each blastomere and on condensed chromosomes in mitotic cells. Phosphorylated on tyrosine residues probably by SRC subfamily protein kinases; multiple phosphorylation is leading to dissociation from nuclear structures implicated in chromatin structural changes. AKAP8 and FIGN double mutant mice die soon after birth due to cleft palate. Belongs to the AKAP95 family. nuclear chromatin condensed chromosome female pronucleus immune system process DNA binding chromatin binding double-stranded DNA binding protein binding nucleus nucleoplasm nucleolus cytoplasm mitochondrion Golgi apparatus mitotic chromosome condensation zinc ion binding protein transport nuclear matrix positive regulation of histone deacetylation negative regulation of tumor necrosis factor production regulation of histone phosphorylation protein kinase A regulatory subunit binding histone deacetylase binding cell cycle G2/M phase transition innate immune response metal ion binding NF-kappaB binding cellular response to lipopolysaccharide cellular response to prostaglandin E stimulus uc008bwg.1 uc008bwg.2 uc008bwg.3 uc008bwg.4 uc008bwg.5 
ENSMUST00000002708.5 Shh ENSMUST00000002708.5 sonic hedgehog (from RefSeq NM_009170.3) ENSMUST00000002708.1 ENSMUST00000002708.2 ENSMUST00000002708.3 ENSMUST00000002708.4 Hhg1 NM_009170 Q62226 SHH_MOUSE Shh uc008wua.1 uc008wua.2 uc008wua.3 uc008wua.4 [Sonic hedgehog protein]: The C-terminal part of the sonic hedgehog protein precursor displays an autoproteolysis and a cholesterol transferase activity (PubMed:8824192, PubMed:7891723, PubMed:7736596). Both activities result in the cleavage of the full- length protein into two parts (ShhN and ShhC) followed by the covalent attachment of a cholesterol moiety to the C-terminal of the newly generated ShhN (PubMed:8824192). Both activities occur in the reticulum endoplasmic (PubMed:21357747). Once cleaved, ShhC is degraded in the endoplasmic reticulum (PubMed:21357747). [Sonic hedgehog protein N-product]: The dually lipidated sonic hedgehog protein N-product (ShhNp) is a morphogen which is essential for a variety of patterning events during development. Induces ventral cell fate in the neural tube and somites (PubMed:11430830, PubMed:24863049). Involved in the patterning of the anterior-posterior axis of the developing limb bud (PubMed:15315762). Essential for axon guidance (PubMed:12679031). Binds to the patched (PTCH1) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes (By similarity). In the absence of SHH, PTCH1 represses the constitutive signaling activity of SMO (By similarity). [Sonic hedgehog protein]: Reaction=cholesterol + glycyl-L-cysteinyl-[protein] + H(+) = [protein]- C-terminal glycyl cholesterol ester + N-terminal L-cysteinyl- [protein]; Xref=Rhea:RHEA:59504, Rhea:RHEA-COMP:12707, Rhea:RHEA- COMP:15369, Rhea:RHEA-COMP:15374, ChEBI:CHEBI:15378, ChEBI:CHEBI:16113, ChEBI:CHEBI:65250, ChEBI:CHEBI:143135, ChEBI:CHEBI:143140; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:59505; Evidence=; Interacts with HHATL/GUP1 which negatively regulates HHAT- mediated palmitoylation of the SHH N-terminus (PubMed:18081866). Interacts with BOC and CDON (PubMed:18794898). Interacts with HHIP (By similarity). Interacts with DISP1 via its cholesterol anchor (PubMed:22902404, PubMed:22677548). Interacts with SCUBE2 (PubMed:24522195, PubMed:22677548). Interacts with glypican GPC3 (PubMed:18477453). [Sonic hedgehog protein N-product]: Multimer. Q62226; Q4KMG0: CDON; Xeno; NbExp=7; IntAct=EBI-15610166, EBI-7016840; Q62226; Q96QV1-1: HHIP; Xeno; NbExp=4; IntAct=EBI-15610166, EBI-15791478; [Sonic hedgehog protein]: Endoplasmic reticulum membrane Golgi apparatus membrane Note=Co-localizes with HHAT in the ER and Golgi membrane. [Sonic hedgehog protein N-product]: Cell membrane ; Lipid-anchor Note=The dual-lipidated sonic hedgehog protein N-product (ShhNp) is firmly tethered to the cell membrane where it forms multimers (PubMed:24522195). Further solubilization and release from the cell surface seem to be achieved through different mechanisms, including the interaction with DISP1 and SCUBE2, movement by lipoprotein particles, transport by cellular extensions called cytonemes or by the proteolytic removal of both terminal lipidated peptides. Expressed in a number of embryonic tissues including the notochord, ventral neural tube, floor plate, lung bud, zone of polarizing activity and posterior distal mesenchyme of limbs. In the adult, expressed in lung and neural retina. First detectable during gastrulation. By retinoic acid. [Sonic hedgehog protein N-product]: Binds calcium and zinc ions; this stabilizes the protein fold and is essential for protein- protein interactions mediated by this domain. [Sonic hedgehog protein N-product]: The Cardin-Weintraub (CW) motif is required for heparan sulfate binding of the solubilized ShhNp (PubMed:23118222). The N-terminal palmitoylated peptide is cleaved at the heparan sulfate-binding Cardin-Weintraub (CW) motif site (PubMed:24522195). The cleavage reduced the interactions with heparan sulfate. The cleavage is enhanced by SCUBE2 (PubMed:24522195). [Sonic hedgehog protein]: The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity (PubMed:7891723, PubMed:7736596, PubMed:8824192). Both activities result in the cleavage of the full-length protein and covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N-terminal fragment (ShhN)(PubMed:7891723, PubMed:7736596, PubMed:8824192). Cholesterylation is required for the sonic hedgehog protein N-product targeting to lipid rafts and multimerization (PubMed:24522195, PubMed:8824192). ShhN is the active species in both local and long-range signaling, whereas the C-product (ShhC) is degraded in the reticulum endoplasmic (PubMed:21357747). [Sonic hedgehog protein N-product]: N-palmitoylation by HHAT of ShhN is required for sonic hedgehog protein N-product multimerization and full activity (PubMed:11486055, PubMed:15075292). It is a prerequisite for the membrane-proximal positioning and the subsequent shedding of this N-terminal peptide (PubMed:24522195). [Sonic hedgehog protein N-product]: The lipidated N- and C- terminal peptides of ShhNp can be cleaved (shedding)(PubMed:24522195). The N-terminal palmitoylated peptide is cleaved at the Cardin-Weintraub (CW) motif site (PubMed:24522195). The cleavage reduced the interactions with heparan sulfate (PubMed:23118222). The cleavage is enhanced by SCUBE2. Mice overexpressing Shh display digit duplications in both forelimbs and hindlimbs. Belongs to the hedgehog family. The several steps and mechanisms that permit controlled Shh dispersion and gradient formation remain controversial. The ShhNC C- terminal domain displays an autoproteolysis activity and a cholesterol transferase activity resulting in the cleavage and covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N- terminal fragment (ShhN). The protein is further modified by covalent addition of palmitate at the N-terminal of ShhN, resulting to the dual- lipidated Shh (ShhNp). ShhNp is firmly tethered to the cell membrane where it forms multimers. Further solubilization and release from the cell surface seem to be achieved through different mechanisms, including the interaction with DISP1 and SCUBE2, movement by lipoprotein particles, transport by cellular extensions called cytonemes or by proteolytic removal of both terminal lipidated peptides. Once released, the fully processed Shh can signal within embryonic tissues both at short and long-range. negative regulation of transcription from RNA polymerase II promoter angiogenesis branching involved in blood vessel morphogenesis vasculogenesis metanephros development branching involved in ureteric bud morphogenesis cell fate specification neural crest cell migration kidney development neural tube formation hair follicle development vasculature development heart looping positive regulation of neuroblast proliferation positive regulation of mesenchymal cell proliferation osteoblast development lymphoid progenitor cell differentiation determination of left/right asymmetry in lateral mesoderm patched binding calcium ion binding protein binding glycosaminoglycan binding extracellular region extracellular space nucleus endoplasmic reticulum Golgi apparatus plasma membrane regulation of transcription, DNA-templated proteolysis endocytosis signal transduction smoothened signaling pathway positive regulation of hh target transcription factor activity cell-cell signaling multicellular organism development determination of left/right symmetry pattern specification process ectoderm development neuroblast proliferation axon guidance central nervous system development hindgut morphogenesis digestive tract mesoderm development heart development blood coagulation synaptic vesicle androgen metabolic process zinc ion binding cell proliferation positive regulation of cell proliferation polarity specification of anterior/posterior axis anterior/posterior pattern specification dorsal/ventral pattern formation cell surface mesenchymal cell proliferation regulation of gene expression positive regulation of gene expression negative regulation of gene expression oligodendrocyte development striated muscle tissue development positive regulation of skeletal muscle cell proliferation myotube differentiation membrane intein-mediated protein splicing spinal cord dorsal/ventral patterning ventral spinal cord interneuron specification spinal cord motor neuron differentiation thalamus development forebrain regionalization dorsal/ventral neural tube patterning cell proliferation in external granule layer cerebellar granule cell precursor proliferation smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation positive regulation of cerebellar granule cell precursor proliferation telencephalon regionalization zona limitans intrathalamica formation establishment of cell polarity transport vesicle regulation of proteolysis positive regulation of Wnt signaling pathway negative regulation of Wnt signaling pathway respiratory tube development lung development embryonic limb morphogenesis negative regulation of cell migration axon dendrite male genitalia development prostate gland development thyroid gland development forebrain development midbrain development hindbrain development extracellular matrix pancreas development hair follicle morphogenesis negative regulation of proteasomal ubiquitin-dependent protein catabolic process positive regulation of neurotrophin production T cell differentiation in thymus positive regulation of T cell differentiation in thymus positive regulation of immature T cell proliferation in thymus negative regulation of transcription elongation from RNA polymerase II promoter protein localization to nucleus embryonic forelimb morphogenesis embryonic hindlimb morphogenesis regulation of cell proliferation negative regulation of T cell proliferation negative regulation of protein catabolic process positive regulation of protein import into nucleus odontogenesis of dentin-containing tooth odontogenesis regulation of odontogenesis embryonic digit morphogenesis camera-type eye development neuronal cell body negative regulation of apoptotic process laminin-1 binding CD4-positive or CD8-positive, alpha-beta T cell lineage commitment tongue development tongue morphogenesis skin development positive thymic T cell selection negative thymic T cell selection intermediate filament organization membrane raft cell fate commitment myoblast differentiation response to ethanol negative regulation of cell differentiation positive regulation of cell differentiation positive regulation of neuron differentiation positive regulation of smoothened signaling pathway positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of photoreceptor cell differentiation positive regulation of alpha-beta T cell differentiation negative regulation of alpha-beta T cell differentiation metal ion binding cell development thymus development digestive tract morphogenesis embryonic digestive tract morphogenesis embryonic organ development developmental growth embryonic morphogenesis embryonic foregut morphogenesis positive regulation of skeletal muscle tissue development animal organ formation anatomical structure formation involved in morphogenesis neuron fate commitment response to axon injury embryonic skeletal system development oligodendrocyte differentiation positive regulation of oligodendrocyte differentiation branching morphogenesis of an epithelial tube male genitalia morphogenesis inner ear development anatomical structure development formation of anatomical boundary stem cell development striated muscle cell differentiation positive regulation of striated muscle cell differentiation positive regulation of cell division Bergmann glial cell differentiation palate development canonical Wnt signaling pathway limb development limb bud formation positive regulation of penile erection lung morphogenesis lung epithelium development trachea development trachea morphogenesis epithelial tube branching involved in lung morphogenesis branching involved in prostate gland morphogenesis branching involved in salivary gland morphogenesis bud outgrowth involved in lung branching right lung development left lung development lung lobe morphogenesis lung-associated mesenchyme development primary prostatic bud elongation prostate epithelial cord elongation salivary gland cavitation epithelial cell proliferation involved in salivary gland morphogenesis epithelial-mesenchymal cell signaling regulation of prostatic bud formation epithelial-mesenchymal signaling involved in prostate gland development regulation of epithelial cell proliferation involved in prostate gland development positive regulation of epithelial cell proliferation involved in prostate gland development regulation of mesenchymal cell proliferation involved in prostate gland development mesenchymal smoothened signaling pathway involved in prostate gland development artery development mesenchymal cell proliferation involved in lung development vasculogenesis involved in coronary vascular morphogenesis somite development positive regulation of sclerotome development fungiform papilla development fungiform papilla morphogenesis fungiform papilla formation positive regulation of oligodendrocyte progenitor proliferation cellular response to lithium ion dopaminergic neuron differentiation commissural neuron axon guidance renal system development metanephric mesenchymal cell proliferation involved in metanephros development negative regulation of canonical Wnt signaling pathway negative regulation of cholesterol efflux apoptotic signaling pathway regulation of protein localization to nucleus negative regulation of neuron death positive regulation of sprouting angiogenesis negative regulation of dopaminergic neuron differentiation tracheoesophageal septum formation negative regulation of ureter smooth muscle cell differentiation positive regulation of ureter smooth muscle cell differentiation negative regulation of kidney smooth muscle cell differentiation positive regulation of kidney smooth muscle cell differentiation positive regulation of mesenchymal cell proliferation involved in ureter development positive regulation of endothelial cell chemotaxis negative regulation of mesenchymal cell apoptotic process hydrolase activity uc008wua.1 uc008wua.2 uc008wua.3 uc008wua.4 
ENSMUST00000002710.10 Pdcd2l ENSMUST00000002710.10 programmed cell death 2-like, transcript variant 1 (from RefSeq NM_026549.4) ENSMUST00000002710.1 ENSMUST00000002710.2 ENSMUST00000002710.3 ENSMUST00000002710.4 ENSMUST00000002710.5 ENSMUST00000002710.6 ENSMUST00000002710.7 ENSMUST00000002710.8 ENSMUST00000002710.9 NM_026549 PDD2L_MOUSE Q8C5N5 Q8R185 Q9D1M3 uc009giw.1 uc009giw.2 uc009giw.3 Over-expression suppresses AP1, CREB, NFAT, and NF-kB transcriptional activation, and delays cell cycle progression at S phase. molecular_function cytoplasm cell cycle biological_process uc009giw.1 uc009giw.2 uc009giw.3 
ENSMUST00000002733.7 Gtf2f1 ENSMUST00000002733.7 general transcription factor IIF, polypeptide 1, transcript variant 19 (from RefSeq NR_185085.1) ENSMUST00000002733.1 ENSMUST00000002733.2 ENSMUST00000002733.3 ENSMUST00000002733.4 ENSMUST00000002733.5 ENSMUST00000002733.6 NR_185085 Q3THK3 Q8R5B7 T2FA_MOUSE uc008ddp.1 uc008ddp.2 uc008ddp.3 TFIIF is a general transcription initiation factor that binds to RNA polymerase II and helps to recruit it to the initiation complex in collaboration with TFIIB. It promotes transcription elongation (By similarity). Heterodimer of an alpha and a beta subunit. Interacts with GTF2F2, CTDP1, TAF6/TAFII80 and URI1 (By similarity). Interacts with GTF2B (via C-terminus and preferentially via acetylated form); this interaction prevents binding of GTF2B to GTF2F2 (By similarity). Nucleus Phosphorylated on Ser and other residues by TAF1 and casein kinase II-like kinases. Belongs to the TFIIF alpha subunit family. DNA binding protein binding nucleus transcription factor TFIID complex transcription initiation from RNA polymerase II promoter transcription factor binding response to virus obsolete general RNA polymerase II transcription factor activity phosphatase activator activity protein phosphatase binding protein domain specific binding cell junction negative regulation of protein binding positive regulation of transcription elongation from RNA polymerase II promoter macromolecular complex positive regulation of catalytic activity intracellular membrane-bounded organelle positive regulation of transcription from RNA polymerase II promoter promoter-specific chromatin binding uc008ddp.1 uc008ddp.2 uc008ddp.3 
ENSMUST00000002735.9 Clpp ENSMUST00000002735.9 caseinolytic mitochondrial matrix peptidase proteolytic subunit (from RefSeq NM_017393.2) CLPP_MOUSE ENSMUST00000002735.1 ENSMUST00000002735.2 ENSMUST00000002735.3 ENSMUST00000002735.4 ENSMUST00000002735.5 ENSMUST00000002735.6 ENSMUST00000002735.7 ENSMUST00000002735.8 NM_017393 O88696 Q3TI13 uc008ddm.1 uc008ddm.2 uc008ddm.3 uc008ddm.4 Protease component of the Clp complex that cleaves peptides and various proteins in an ATP-dependent process. Has low peptidase activity in the absence of CLPX. The Clp complex can degrade CSN1S1, CSN2 and CSN3, as well as synthetic peptides (in vitro) and may be responsible for a fairly general and central housekeeping function rather than for the degradation of specific substrates. Cleaves PINK1 in the mitochondrion. Reaction=Hydrolysis of proteins to small peptides in the presence of ATP and magnesium. alpha-casein is the usual test substrate. In the absence of ATP, only oligopeptides shorter than five residues are hydrolyzed (such as succinyl-Leu-Tyr-|-NHMec, and Leu-Tyr-Leu-|-Tyr- Trp, in which cleavage of the -Tyr-|-Leu- and -Tyr-|-Trp bonds also occurs).; EC=3.4.21.92; Evidence=; Fourteen CLPP subunits assemble into 2 heptameric rings which stack back to back to give a disk-like structure with a central cavity. Component of the Clp complex formed by the assembly of two CLPP heptameric rings with two CLPX hexameric rings, giving rise to a symmetrical structure with two central CLPP rings flanked by a CLPX ring at either end of the complex. Mitochondrion matrix Detected in liver (at protein level). High levels found in heart, liver and skeletal muscle. Homozygous pups are born at about 60 % of the expected Mendelian rate, indicating decreased intrauterine survival. Mutant mice are smaller in size than wild-type littermates, show decreased motor activity, are completely deaf after 12 months and their lifespan is decreased relative to that of wild-type littermates. Both female and male mutant mice are completely infertile due to defects in germ cell development. Belongs to the peptidase S14 family. ATP-dependent peptidase activity serine-type endopeptidase activity protein binding mitochondrion mitochondrial matrix proteolysis misfolded or incompletely synthesized protein catabolic process peptidase activity serine-type peptidase activity endopeptidase Clp complex hydrolase activity identical protein binding ATPase binding protein homooligomerization proteolysis involved in cellular protein catabolic process uc008ddm.1 uc008ddm.2 uc008ddm.3 uc008ddm.4 
ENSMUST00000002737.7 Alkbh7 ENSMUST00000002737.7 alkB homolog 7, transcript variant 1 (from RefSeq NM_025538.3) ALKB7_MOUSE ENSMUST00000002737.1 ENSMUST00000002737.2 ENSMUST00000002737.3 ENSMUST00000002737.4 ENSMUST00000002737.5 ENSMUST00000002737.6 NM_025538 Q8K1H3 Q9CY41 Q9D6Z0 Q9D942 Spata11 uc008ddn.1 uc008ddn.2 uc008ddn.3 uc008ddn.4 uc008ddn.5 May function as protein hydroxylase; can catalyze auto- hydroxylation at Leu-110 (in vitro), but this activity may be due to the absence of the true substrate. Required to induce programmed necrosis in response to DNA damage caused by cytotoxic alkylating agents. Acts by triggering the collapse of mitochondrial membrane potential and loss of mitochondrial function that leads to energy depletion and cell death. ALKBH7-mediated necrosis is probably required to prevent the accumulation of cells with DNA damage. Does not display DNA demethylase activity (By similarity). Involved in fatty acid metabolism. Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; Note=Binds 1 Fe(2+) ion per subunit. ; Mitochondrion matrix Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9D6Z0-1; Sequence=Displayed; Name=2; IsoId=Q9D6Z0-2; Sequence=VSP_019132; Widely expressed. Increased body weight and body fat, a phenotype amplified under high-fat diet. Belongs to the alkB family. Sequence=AAH29677.1; Type=Erroneous initiation; Evidence=; mitochondrion mitochondrial matrix fatty acid metabolic process cellular response to DNA damage stimulus regulation of lipid storage programmed cell death oxidoreductase activity metal ion binding dioxygenase activity oxidation-reduction process regulation of mitochondrial membrane permeability involved in programmed necrotic cell death oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors uc008ddn.1 uc008ddn.2 uc008ddn.3 uc008ddn.4 uc008ddn.5 
ENSMUST00000002740.3 Pspn ENSMUST00000002740.3 persephin (from RefSeq NM_008954.4) A1L3Q1 A1L3Q1_MOUSE ENSMUST00000002740.1 ENSMUST00000002740.2 NM_008954 Pspn uc008ddo.1 uc008ddo.2 uc008ddo.3 This gene encodes a secreted ligand of the GDNF (glial cell line-derived neurotrophic factor) subfamily and TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein signals through the RET receptor tyrosine kinase and a GPI-linked coreceptor, and promotes survival of neuronal populations. This protein may play a role in cell death, and nervous system development and function. Mice lacking a functional copy of this gene exhibit hypersensitivity to cerebral ischemia. [provided by RefSeq, Aug 2016]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.440535.1, BC130229.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Secreted Belongs to the TGF-beta family. GDNF subfamily. extracellular region signal transduction growth factor activity uc008ddo.1 uc008ddo.2 uc008ddo.3 
ENSMUST00000002757.11 Cox16 ENSMUST00000002757.11 cytochrome c oxidase assembly protein 16, transcript variant 1 (from RefSeq NM_025461.6) COX16_MOUSE Cox16 ENSMUST00000002757.1 ENSMUST00000002757.10 ENSMUST00000002757.2 ENSMUST00000002757.3 ENSMUST00000002757.4 ENSMUST00000002757.5 ENSMUST00000002757.6 ENSMUST00000002757.7 ENSMUST00000002757.8 ENSMUST00000002757.9 NM_025461 Q8BNX4 Q99J15 Q9CR63 uc007oce.1 uc007oce.2 uc007oce.3 uc007oce.4 Required for the assembly of the mitochondrial respiratory chain complex IV (CIV), also known as cytochrome c oxidase. Promotes the insertion of copper into the active site of cytochrome c oxidase subunit II (MT-CO2/COX2). Interacts specifically with newly synthesized MT-CO2/COX and its copper center-forming metallochaperones SCO1, SCO2 and COA6. Probably facilitates MT-CO2/COX2 association with the MITRAC assembly intermediate containing MT-CO1/COX1, thereby participating in merging the MT-CO1/COX1 and MT-CO2/COX2 assembly lines. Associates with the MITRAC complex. Interacts with MT-CO2/COX; specifically interacts with newly synthesized MT-CO2/COX. Interacts with SCO1, SCO2 and COA6. Mitochondrion inner membrane ; Single-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CR63-1; Sequence=Displayed; Name=2; IsoId=Q9CR63-2; Sequence=VSP_014603; Belongs to the COX16 family. molecular_function mitochondrion mitochondrial inner membrane membrane integral component of membrane integral component of mitochondrial inner membrane mitochondrial membrane mitochondrial respiratory chain complex IV assembly uc007oce.1 uc007oce.2 uc007oce.3 uc007oce.4 
ENSMUST00000002765.9 Prkd1 ENSMUST00000002765.9 protein kinase D1, transcript variant 5 (from RefSeq NR_168537.1) E9QNA3 ENSMUST00000002765.1 ENSMUST00000002765.2 ENSMUST00000002765.3 ENSMUST00000002765.4 ENSMUST00000002765.5 ENSMUST00000002765.6 ENSMUST00000002765.7 ENSMUST00000002765.8 KPCD1_MOUSE NR_168537 Pkcm Pkd Prkcm Q62101 uc007nmj.1 uc007nmj.2 uc007nmj.3 uc007nmj.4 Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of MAPK8/JNK1 and Ras signaling, Golgi membrane integrity and trafficking, cell survival through NF-kappa-B activation, cell migration, cell differentiation by mediating HDAC7 nuclear export, cell proliferation via MAPK1/3 (ERK1/2) signaling, and plays a role in cardiac hypertrophy, VEGFA-induced angiogenesis, genotoxic-induced apoptosis and flagellin-stimulated inflammatory response (PubMed:12407104, PubMed:14963034, PubMed:15192707, PubMed:20463010, PubMed:24161911, PubMed:28716882). Phosphorylates the epidermal growth factor receptor (EGFR) on dual threonine residues, which leads to the suppression of epidermal growth factor (EGF)-induced MAPK8/JNK1 activation and subsequent JUN phosphorylation. Phosphorylates RIN1, inducing RIN1 binding to 14-3-3 proteins YWHAB, YWHAE and YWHAZ and increased competition with RAF1 for binding to GTP-bound form of Ras proteins (NRAS, HRAS and KRAS) (PubMed:11784866). Acts downstream of the heterotrimeric G-protein beta/gamma-subunit complex to maintain the structural integrity of the Golgi membranes, and is required for protein transport along the secretory pathway. In the trans-Golgi network (TGN), regulates the fission of transport vesicles that are on their way to the plasma membrane (PubMed:11239398). May act by activating the lipid kinase phosphatidylinositol 4-kinase beta (PI4KB) at the TGN for the local synthesis of phosphorylated inositol lipids, which induces a sequential production of DAG, phosphatidic acid (PA) and lyso-PA (LPA) that are necessary for membrane fission and generation of specific transport carriers to the cell surface. Under oxidative stress, is phosphorylated at Tyr-469 via SRC-ABL1 and contributes to cell survival by activating IKK complex and subsequent nuclear translocation and activation of NFKB1. Involved in cell migration by regulating integrin alpha-5/beta-3 recycling and promoting its recruitment in newly forming focal adhesion (PubMed:15192707). In osteoblast differentiation, mediates the bone morphogenetic protein 2 (BMP2)-induced nuclear export of HDAC7, which results in the inhibition of HDAC7 transcriptional repression of RUNX2 (PubMed:19029091). In neurons, plays an important role in neuronal polarity by regulating the biogenesis of TGN-derived dendritic vesicles, and is involved in the maintenance of dendritic arborization and Golgi structure in hippocampal cells. May potentiate mitogenesis induced by the neuropeptide bombesin or vasopressin by mediating an increase in the duration of MAPK1/3 (ERK1/2) signaling, which leads to accumulation of immediate-early gene products including FOS that stimulate cell cycle progression. Plays an important role in the proliferative response induced by low calcium in keratinocytes, through sustained activation of MAPK1/3 (ERK1/2) pathway (PubMed:14963034, PubMed:20463010). Downstream of novel PKC signaling, plays a role in cardiac hypertrophy by phosphorylating HDAC5, which in turn triggers XPO1/CRM1-dependent nuclear export of HDAC5, MEF2A transcriptional activation and induction of downstream target genes that promote myocyte hypertrophy and pathological cardiac remodeling (PubMed:24161911). Mediates cardiac troponin I (TNNI3) phosphorylation at the PKA sites, which results in reduced myofilament calcium sensitivity, and accelerated crossbridge cycling kinetics. The PRKD1- HDAC5 pathway is also involved in angiogenesis by mediating VEGFA- induced specific subset of gene expression, cell migration, and tube formation. In response to VEGFA, is necessary and required for HDAC7 phosphorylation which induces HDAC7 nuclear export and endothelial cell proliferation and migration. During apoptosis induced by cytarabine and other genotoxic agents, PRKD1 is cleaved by caspase-3 at Asp-378, resulting in activation of its kinase function and increased sensitivity of cells to the cytotoxic effects of genotoxic agents. In epithelial cells, is required for transducing flagellin-stimulated inflammatory responses by binding and phosphorylating TLR5, which contributes to MAPK14/p38 activation and production of inflammatory cytokines. Acts as an activator of NLRP3 inflammasome assembly by mediating phosphorylation of NLRP3 (PubMed:28716882). May play a role in inflammatory response by mediating activation of NF-kappa-B. May be involved in pain transmission by directly modulating TRPV1 receptor. Plays a role in activated KRAS-mediated stabilization of ZNF304 in colorectal cancer (CRC) cells (By similarity). Regulates nuclear translocation of transcription factor TFEB in macrophages upon live S.enterica infection (PubMed:27184844). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.13; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:17990; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.13; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Activated by DAG and phorbol esters. Phorbol- ester/DAG-type domain 1 binds DAG with high affinity and appears to play the dominant role in mediating translocation to the cell membrane and trans-Golgi network. Phorbol-ester/DAG-type domain 2 binds phorbol ester with higher affinity. Autophosphorylation of Ser-748 and phosphorylation of Ser-744 by PKC relieves auto-inhibition by the PH domain. Phosphorylation on Tyr-469 by the SRC-ABL1 pathway in response to oxidative stress, is also required for activation. Activated by DAPK1 under oxidative stress (By similarity). Interacts (via N-terminus) with ADAP1/CENTA1. Interacts with MAPK13. Interacts with DAPK1 in an oxidative stress-regulated manner. Interacts with USP28; the interaction induces phosphorylation of USP28 and activated KRAS-mediated stabilization of ZNF304 (By similarity). Interacts with AKAP13 (via C-terminal domain) (PubMed:24161911). Q62101; P05106: ITGB3; Xeno; NbExp=2; IntAct=EBI-6903636, EBI-702847; Cytoplasm Cell membrane Golgi apparatus, trans-Golgi network Note=Translocation to the cell membrane is required for kinase activation. Phosphorylated at Ser-403 and Ser-407 by MAPK13 during regulation of insulin secretion in pancreatic beta cells (By similarity). Phosphorylated by DAPK1 (By similarity). Phosphorylated at Tyr-93 and by ABL at Tyr-469, which primes the kinase in response to oxidative stress, and promotes a second step activating phosphorylation at Ser- 744/Ser-748 by PKRD (By similarity). Phosphorylated at Ser-916 upon S.enterica infection in macrophages (PubMed:27184844). Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. PKD subfamily. nucleotide binding autophagosome membrane angiogenesis positive regulation of endothelial cell proliferation immune system process protein kinase activity protein serine/threonine kinase activity protein kinase C activity protein binding ATP binding nucleus cytoplasm Golgi apparatus trans-Golgi network cytosol plasma membrane cell-cell junction cell cortex protein phosphorylation apoptotic process inflammatory response Golgi organization Ras protein signal transduction nervous system development positive regulation of autophagy positive regulation of endothelial cell migration regulation of keratinocyte proliferation positive regulation of neuron projection development membrane kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation cell differentiation regulation of protein stability positive regulation of CREB transcription factor activity positive regulation of peptidyl-serine phosphorylation cellular response to amino acid starvation cellular response to oxidative stress intracellular signal transduction cellular response to vascular endothelial growth factor stimulus positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway positive regulation of protein import into nucleus identical protein binding positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of blood vessel endothelial cell migration innate immune response positive regulation of osteoblast differentiation positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter protein autophosphorylation metal ion binding vascular endothelial growth factor receptor signaling pathway Golgi vesicle transport defense response to Gram-negative bacterium positive regulation of NF-kappaB transcription factor activity regulation of release of sequestered calcium ion into cytosol negative regulation of cell death cellular response to hydroperoxide protein kinase D signaling positive regulation of histone deacetylase activity positive regulation of endothelial cell chemotaxis uc007nmj.1 uc007nmj.2 uc007nmj.3 uc007nmj.4 
ENSMUST00000002790.14 Cse1l ENSMUST00000002790.14 chromosome segregation 1 like (from RefSeq NM_023565.3) ENSMUST00000002790.1 ENSMUST00000002790.10 ENSMUST00000002790.11 ENSMUST00000002790.12 ENSMUST00000002790.13 ENSMUST00000002790.2 ENSMUST00000002790.3 ENSMUST00000002790.4 ENSMUST00000002790.5 ENSMUST00000002790.6 ENSMUST00000002790.7 ENSMUST00000002790.8 ENSMUST00000002790.9 NM_023565 Q9ERK4 XPO2_MOUSE Xpo2 uc008nys.1 uc008nys.2 uc008nys.3 uc008nys.4 Export receptor for importin-alpha. Mediates importin-alpha re-export from the nucleus to the cytoplasm after import substrates (cargos) have been released into the nucleoplasm. In the nucleus binds cooperatively to importin-alpha and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the importin-alpha from the export receptor. CSE1L/XPO2 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Found in a complex with CSE1L/XPO2, Ran and KPNA2. Binds with high affinity to importin-alpha only in the presence of RanGTP. The complex is dissociated by the combined action of RanBP1 and RanGAP1. Interacts with CFTR. Cytoplasm Nucleus Note=Shuttles between the nucleus and the cytoplasm. Ubiquitous. Detected in embryos from 5 to 17 dpc. Highly expressed in adult testis, heart, brain, lung, liver, skeletal muscle, spleen and kidney. Complete embryonic lethality at around 5.5 dpc. Belongs to the XPO2/CSE1 family. nuclear export signal receptor activity protein binding nucleus nuclear envelope nucleoplasm cytoplasm cytosol protein import into nucleus protein export from nucleus intracellular protein transport Ran GTPase binding protein transport uc008nys.1 uc008nys.2 uc008nys.3 uc008nys.4 
ENSMUST00000002808.7 Prkra ENSMUST00000002808.7 protein kinase, interferon inducible double stranded RNA dependent activator, transcript variant 13 (from RefSeq NR_185271.1) ENSMUST00000002808.1 ENSMUST00000002808.2 ENSMUST00000002808.3 ENSMUST00000002808.4 ENSMUST00000002808.5 ENSMUST00000002808.6 NR_185271 PRKRA_MOUSE Q9CZB7 Q9WTX2 Rax uc008kff.1 uc008kff.2 uc008kff.3 Required for siRNA production by DICER1 and for subsequent siRNA-mediated post-transcriptional gene silencing. Does not seem to be required for processing of pre-miRNA to miRNA by DICER1 (By similarity). Activates EIF2AK2/PKR in the absence of double-stranded RNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha and inhibition of translation and induction of apoptosis. Promotes UBC9- p53/TP53 association and sumoylation and phosphorylation of p53/TP53 at 'Lys-386' at 'Ser-392' respectively and enhances its activity in a EIF2AK2/PKR-dependent manner. Homodimer. Interacts with DICER1, AGO2 and TARBP2. Also able to interact with dsRNA (By similarity). Interacts with EIF2AK2/PKR through its DRBM domains. Interacts with DUS2L (via DRBM domain) (By similarity). Interacts with UBC9. Forms a complex with UBC9 and p53/TP53. Cytoplasm, perinuclear region Cytoplasm Expressed in brain, heart, kidney, liver, lung, muscle, spleen and testis. Self-association may occur via interactions between DRBM domains as follows: DRBM 1/DRBM 1, DRBM 1/DRBM 2, DRBM 2/DRBM 2 or DRBM 3/DRBM3. Phosphorylated at Ser-246 in unstressed cells and at Ser-287 in stressed cells. Phosphorylation at Ser-246 appears to be a prerequisite for subsequent phosphorylation at Ser-287. Phosphorylation at Ser-246 and Ser-287 are necessary for activation of EIF2AK2/PKR under conditions of stress (By similarity). Belongs to the PRKRA family. RNA binding double-stranded RNA binding protein binding nucleoplasm cytoplasm cytosol protein phosphorylation enzyme activator activity positive regulation of cell proliferation enzyme binding protein kinase binding production of siRNA involved in RNA interference gene silencing by RNA pre-miRNA processing cellular response to oxidative stress production of miRNAs involved in gene silencing by miRNA outer ear morphogenesis middle ear morphogenesis identical protein binding protein homodimerization activity positive regulation of catalytic activity ear development perinuclear region of cytoplasm skeletal system morphogenesis protein stabilization RISC-loading complex pre-miRNA binding positive regulation of intrinsic apoptotic signaling pathway uc008kff.1 uc008kff.2 uc008kff.3 
ENSMUST00000002809.14 Fkbp7 ENSMUST00000002809.14 FK506 binding protein 7, transcript variant 1 (from RefSeq NM_010222.2) ENSMUST00000002809.1 ENSMUST00000002809.10 ENSMUST00000002809.11 ENSMUST00000002809.12 ENSMUST00000002809.13 ENSMUST00000002809.2 ENSMUST00000002809.3 ENSMUST00000002809.4 ENSMUST00000002809.5 ENSMUST00000002809.6 ENSMUST00000002809.7 ENSMUST00000002809.8 ENSMUST00000002809.9 Fkbp7 NM_010222 Q3UU11 Q3UU11_MOUSE uc008kfh.1 uc008kfh.2 uc008kfh.3 uc008kfh.4 Reaction=[protein]-peptidylproline (omega=180) = [protein]- peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA- COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8; Evidence= protein peptidyl-prolyl isomerization peptidyl-prolyl cis-trans isomerase activity calcium ion binding isomerase activity uc008kfh.1 uc008kfh.2 uc008kfh.3 uc008kfh.4 
ENSMUST00000002818.9 Ykt6 ENSMUST00000002818.9 YKT6 v-SNARE homolog (S. cerevisiae) (from RefSeq NM_019661.5) ENSMUST00000002818.1 ENSMUST00000002818.2 ENSMUST00000002818.3 ENSMUST00000002818.4 ENSMUST00000002818.5 ENSMUST00000002818.6 ENSMUST00000002818.7 ENSMUST00000002818.8 NM_019661 O88595 Q9CQW1 YKT6_MOUSE uc007hxp.1 uc007hxp.2 uc007hxp.3 uc007hxp.4 uc007hxp.5 uc007hxp.6 Vesicular soluble NSF attachment protein receptor (v-SNARE) mediating vesicle docking and fusion to a specific acceptor cellular compartment. Functions in endoplasmic reticulum to Golgi transport; as part of a SNARE complex composed of GOSR1, GOSR2 and STX5. Functions in early/recycling endosome to TGN transport; as part of a SNARE complex composed of BET1L, GOSR1 and STX5. Has a S-palmitoyl transferase activity. Identified in 2 different SNARE complexes; the first one composed of GOSR1, GOSR2 and STX5 and the second one composed of BET1L, GOSR1 and STX5. Cytoplasm, cytosol Cytoplasmic vesicle membrane ; Lipid-anchor ; Cytoplasmic side Golgi apparatus membrane ; Lipid- anchor ; Cytoplasmic side Note=Probably cycles through vesicles between Golgi and endosomes. The longin domain regulates palmitoylation and membrane targeting. Palmitoylated; catalyzes its own palmitoylation. Palmitoylation is required for Golgi targeting. Farnesylation is required for Golgi targeting. Belongs to the synaptobrevin family. Golgi membrane SNAP receptor activity cytoplasm mitochondrion endosome endoplasmic reticulum Golgi apparatus cytosol integral component of plasma membrane ER to Golgi vesicle-mediated transport vesicle targeting vesicle docking involved in exocytosis protein transport membrane integral component of membrane vesicle-mediated transport transferase activity protein-cysteine S-palmitoyltransferase activity cytoplasmic vesicle membrane SNARE complex cytoplasmic vesicle retrograde transport, endosome to Golgi neuronal cell body membrane fusion apical dendrite basilar dendrite uc007hxp.1 uc007hxp.2 uc007hxp.3 uc007hxp.4 uc007hxp.5 uc007hxp.6 
ENSMUST00000002825.6 Baz1b ENSMUST00000002825.6 bromodomain adjacent to zinc finger domain, 1B (from RefSeq NM_011714.2) B9EJ99 BAZ1B_MOUSE ENSMUST00000002825.1 ENSMUST00000002825.2 ENSMUST00000002825.3 ENSMUST00000002825.4 ENSMUST00000002825.5 NM_011714 Q3URP5 Q3USR7 Q3UVM2 Q8CAU9 Q9CU68 Q9Z277 Wbscr9 Wstf uc008zxz.1 uc008zxz.2 uc008zxz.3 uc008zxz.4 Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator (By similarity). Involved in DNA damage response by phosphorylating 'Tyr- 142' of histone H2AX (H2AXY142ph) (PubMed:19092802). H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress (PubMed:19092802). Regulatory subunit of the ATP-dependent WICH-1 and WICH-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA- templated processes such as DNA replication, transcription, and repair (PubMed:11980720). Both complexes regulate the spacing of nucleosomes along the chromatin and have the ability to slide mononucleosomes to the center of a DNA template (PubMed:16514417). The WICH-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the WICH-5 ISWI chromatin remodeling complex (By similarity). The WICH-5 ISWI chromatin remodeling complex regulates the transcription of various genes, has a role in RNA polymerase I transcription (PubMed:16514417). Within the B-WICH complex has a role in RNA polymerase III transcription (By similarity). Mediates the recruitment of the WICH-5 ISWI chromatin remodeling complex to replication foci during DNA replication (By similarity). Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.2; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Component of the WICH-1 ISWI chromatin remodeling complex, at least composed of SMARCA1 and BAZ1B/WSTF, which regulates the spacing of histone octamers on the DNA template to facilitate access to DNA (By similarity). Within the WICH-1 ISWI chromatin remodeling complex interacts with SMARCA1; the interaction is direct (By similarity). Component of the WICH-5 ISWI chromatin remodeling complex (also called the WICH complex), at least composed of SMARCA5/SNF2H and BAZ1B/WSTF, which regulates the spacing of histone octamers on the DNA template to facilitate access to DNA (PubMed:16514417). Within the WICH-5 ISWI chromatin remodeling complex interacts with SMARCA5/SNF2H; the interaction is direct (PubMed:16514417, PubMed:19092802). Component of the B-WICH chromatin remodeling complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21 (By similarity). Within the B-WICH chromatin remodeling complex, interacts with SMARCA5/SNF2H, DDX21, DEK, MYBBP1A, SF3B1 and ERCC6 (By similarity). Interacts with MYO1C (PubMed:16514417). Interacts with PCNA; the interaction is direct and is required for BAZ1B/WSTF binding to replication foci during S phase (By similarity). Interacts with CDT1 (By similarity). Q9Z277; Q91ZW3: Smarca5; NbExp=2; IntAct=EBI-927576, EBI-927547; Nucleus te=Accumulates in pericentromeric heterochromatin during replication. Targeted to replication foci throughout S phase via its association with PCNA (By similarity). Localizes to sites of DNA damage (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Z277-1; Sequence=Displayed; Name=2; IsoId=Q9Z277-2; Sequence=VSP_037470; Expressed as early as day 7 and in equal amounts during gestation. Belongs to the WAL family. BAZ1B subfamily. nucleotide binding condensed chromosome protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity protein binding ATP binding nucleus pericentric heterochromatin chromatin assembly or disassembly chromatin remodeling cellular response to DNA damage stimulus kinase activity phosphorylation histone phosphorylation nuclear body transferase activity peptidyl-tyrosine phosphorylation histone kinase activity histone binding nuclear replication fork metal ion binding uc008zxz.1 uc008zxz.2 uc008zxz.3 uc008zxz.4 
ENSMUST00000002837.11 Tmed5 ENSMUST00000002837.11 transmembrane p24 trafficking protein 5, transcript variant 1 (from RefSeq NM_028876.3) ENSMUST00000002837.1 ENSMUST00000002837.10 ENSMUST00000002837.2 ENSMUST00000002837.3 ENSMUST00000002837.4 ENSMUST00000002837.5 ENSMUST00000002837.6 ENSMUST00000002837.7 ENSMUST00000002837.8 ENSMUST00000002837.9 NM_028876 Q3TDS6 Q9CXE7 TMED5_MOUSE uc008ynp.1 uc008ynp.2 uc008ynp.3 Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Required for the maintenance of the Golgi apparatus; involved in protein exchange between Golgi stacks during assembly. Probably not required for COPI-vesicle-mediated retrograde transport (By similarity). Interacts with TMED9 and TMED10. Endoplasmic reticulum membrane ; Single-pass type I membrane protein Golgi apparatus, cis-Golgi network membrane ; Single-pass type I membrane protein Endoplasmic reticulum-Golgi intermediate compartment membrane ; Single-pass type I membrane protein Note=Probably cycles between compartments of the early secretatory pathway. Belongs to the EMP24/GP25L family. molecular_function endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus cis-Golgi network intracellular protein transport ER to Golgi vesicle-mediated transport Golgi organization protein transport membrane integral component of membrane ER to Golgi transport vesicle endoplasmic reticulum-Golgi intermediate compartment membrane endoplasmic reticulum exit site Golgi ribbon formation uc008ynp.1 uc008ynp.2 uc008ynp.3 
ENSMUST00000002839.9 Ppp2r5d ENSMUST00000002839.9 protein phosphatase 2, regulatory subunit B', delta, transcript variant 1 (from RefSeq NM_009358.3) ENSMUST00000002839.1 ENSMUST00000002839.2 ENSMUST00000002839.3 ENSMUST00000002839.4 ENSMUST00000002839.5 ENSMUST00000002839.6 ENSMUST00000002839.7 ENSMUST00000002839.8 NM_009358 Ppp2r5d Q91V89 Q91V89_MOUSE uc008cua.1 uc008cua.2 uc008cua.3 The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. Belongs to the phosphatase 2A regulatory subunit B56 family. protein phosphatase type 2A complex regulation of protein phosphorylation phosphoprotein phosphatase activity protein binding nucleus cytosol protein dephosphorylation signal transduction negative regulation of peptidyl-threonine phosphorylation positive regulation of neuron projection development protein phosphatase regulator activity regulation of protein autophosphorylation positive regulation of protein dephosphorylation regulation of phosphoprotein phosphatase activity positive regulation of transcription from RNA polymerase II promoter positive regulation of neurotrophin TRK receptor signaling pathway cellular response to growth factor stimulus protein phosphatase activator activity uc008cua.1 uc008cua.2 uc008cua.3 
ENSMUST00000002840.9 Pex6 ENSMUST00000002840.9 peroxisomal biogenesis factor 6, transcript variant 1 (from RefSeq NM_145488.2) ENSMUST00000002840.1 ENSMUST00000002840.2 ENSMUST00000002840.3 ENSMUST00000002840.4 ENSMUST00000002840.5 ENSMUST00000002840.6 ENSMUST00000002840.7 ENSMUST00000002840.8 NM_145488 PEX6_MOUSE Pex6 Q6YNQ9 Q99LC9 uc008cud.1 uc008cud.2 Component of the PEX1-PEX6 AAA ATPase complex, a protein dislocase complex that mediates the ATP-dependent extraction of the PEX5 receptor from peroxisomal membranes, an essential step for PEX5 recycling. Specifically recognizes PEX5 monoubiquitinated at 'Cys-11', and pulls it out of the peroxisome lumen through the PEX2-PEX10-PEX12 retrotranslocation channel. Extraction by the PEX1-PEX6 AAA ATPase complex is accompanied by unfolding of the TPR repeats and release of bound cargo from PEX5. Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:13066; Evidence=; Interacts with PEX1; forming the PEX1-PEX6 AAA ATPase complex, which is composed of a heterohexamer formed by a trimer of PEX1-PEX6 dimers. Interacts with PEX26; interaction is direct and promotes recruitment to peroxisomal membranes. Interacts with ZFAND6. Cytoplasm, cytosol Peroxisome membrane Cell projection, cilium, photoreceptor outer segment Note=Associated with peroxisomal membranes; anchored by PEX26 to peroxisome membranes (By similarity). Localized at the base of the outer segment of photoreceptor cells (PubMed:26593283). In the teeth, expressed in ameloblasts and odontoblasts (PubMed:26593283). Expressed in the retina, at higher levels in the ganglion cell layer and photoreceptor layer at the joint between the outer and inner segments (PubMed:26593283, PubMed:27302843). Belongs to the AAA ATPase family. nucleotide binding photoreceptor outer segment protein binding ATP binding cytoplasm peroxisome peroxisomal membrane cytosol protein targeting to peroxisome peroxisome organization protein C-terminus binding membrane protein import into peroxisome matrix protein import into peroxisome matrix, translocation ATPase activity ATPase activity, coupled cell projection macromolecular complex binding protein stabilization photoreceptor cell cilium uc008cud.1 uc008cud.2 
ENSMUST00000002844.14 Mrpl2 ENSMUST00000002844.14 mitochondrial ribosomal protein L2, transcript variant 1 (from RefSeq NM_025302.4) ENSMUST00000002844.1 ENSMUST00000002844.10 ENSMUST00000002844.11 ENSMUST00000002844.12 ENSMUST00000002844.13 ENSMUST00000002844.2 ENSMUST00000002844.3 ENSMUST00000002844.4 ENSMUST00000002844.5 ENSMUST00000002844.6 ENSMUST00000002844.7 ENSMUST00000002844.8 ENSMUST00000002844.9 NM_025302 Q9D773 RM02_MOUSE uc008ctm.1 uc008ctm.2 uc008ctm.3 Component of the mitochondrial ribosome large subunit (39S) which comprises a 16S rRNA and about 50 distinct proteins. Mitochondrion Belongs to the universal ribosomal protein uL2 family. structural constituent of ribosome mitochondrion mitochondrial large ribosomal subunit ribosome translation mitochondrial translation uc008ctm.1 uc008ctm.2 uc008ctm.3 
ENSMUST00000002846.9 Gnmt ENSMUST00000002846.9 glycine N-methyltransferase, transcript variant 4 (from RefSeq NR_182115.1) ENSMUST00000002846.1 ENSMUST00000002846.2 ENSMUST00000002846.3 ENSMUST00000002846.4 ENSMUST00000002846.5 ENSMUST00000002846.6 ENSMUST00000002846.7 ENSMUST00000002846.8 GNMT_MOUSE NR_182115 Q91WN7 Q9QXF8 uc008cue.1 uc008cue.2 uc008cue.3 Catalyzes the methylation of glycine by using S- adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy), a reaction regulated by the binding of 5-methyltetrahydrofolate (PubMed:15340920). Plays an important role in the regulation of methyl group metabolism by regulating the ratio between S-adenosyl-L- methionine and S-adenosyl-L-homocysteine (PubMed:16779654). Reaction=glycine + S-adenosyl-L-methionine = H(+) + S-adenosyl-L- homocysteine + sarcosine; Xref=Rhea:RHEA:19937, ChEBI:CHEBI:15378, ChEBI:CHEBI:57305, ChEBI:CHEBI:57433, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789; EC=2.1.1.20; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19938; Evidence=; Inhibited by 5-methyltetrahydrofolate monoglutamate and by 5-methyltetrahydrofolate pentaglutamate, inhibition is much more effective by the pentaglutamate form than by the monoglutamate form. Two molecules of 5-methyltetrahydrofolate are bound per tetramer. The binding sites are localized between subunits. Inhibitor binding may preclude movements of the polypeptide chain that are necessary for enzyme activity. Kinetic parameters: KM=180 uM for S-adenosyl-L-methionine ; KM=3.6 mM for glycine ; Homotetramer. Cytoplasm Deficient mice are fertile and display elevated levels of methionine and S-adenosylmethionine in the liver. At 3 and 8 months of age, the livers at 3 and 8 months of age show evidence of fatty accumulation and fibrosis that worsen progressively. Belongs to the class I-like SAM-binding methyltransferase superfamily. Glycine N-methyltransferase family. folic acid binding cytoplasm cytosol glycogen metabolic process regulation of gluconeogenesis methionine metabolic process one-carbon metabolic process methyltransferase activity glycine binding transferase activity glycine N-methyltransferase activity methylation identical protein binding S-adenosylhomocysteine metabolic process S-adenosylmethionine metabolic process protein homotetramerization sarcosine metabolic process S-adenosyl-L-methionine binding uc008cue.1 uc008cue.2 uc008cue.3 
ENSMUST00000002850.8 Abcc6 ENSMUST00000002850.8 ATP-binding cassette, sub-family C member 6 (from RefSeq NM_018795.2) A2TAJ0 A2TAJ1 ENSMUST00000002850.1 ENSMUST00000002850.2 ENSMUST00000002850.3 ENSMUST00000002850.4 ENSMUST00000002850.5 ENSMUST00000002850.6 ENSMUST00000002850.7 F8VPT2 MRP6_MOUSE Mrp6 NM_018795 Q80YB6 Q9R1S7 uc009gya.1 uc009gya.2 uc009gya.3 The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein is unknown; however, a similar rat protein has been identified as the major canalicular bile salt export pump of liver. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: EF109740.1, BC040400.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes physiological compounds, and xenobiotics from cells. Mediates ATP-dependent transport of glutathione conjugates such as leukotriene-c4 (LTC4) and N-ethylmaleimide S-glutathione (NEM- GS) (in vitro), and an anionic cyclopentapeptide endothelin antagonist, BQ-123. May contribute to regulate the transport of organic compounds in testes across the blood-testis-barrier (By similarity). Mediates the release of nucleoside triphosphates, predominantly ATP, into the circulation, where it is rapidly converted into AMP and the mineralization inhibitor inorganic pyrophosphate (PPi) by the ecto-enzyme ectonucleotide pyrophosphatase phosphodiesterase 1 (ENPP1), therefore playing a role in PPi homeostasis. Reaction=an S-substituted glutathione(in) + ATP + H2O = ADP + an S- substituted glutathione(out) + H(+) + phosphate; Xref=Rhea:RHEA:19121, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:90779, ChEBI:CHEBI:456216; EC=7.6.2.3; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19122; Evidence=; Reaction=ATP + H2O + leukotriene C4(in) = ADP + H(+) + leukotriene C4(out) + phosphate; Xref=Rhea:RHEA:38963, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57973, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38964; Evidence=; Basolateral cell membrane ; Multi-pass membrane protein Basal cell membrane ; Multi-pass membrane protein Glycosylated. Deficient mice spontaneously develop calcification and elastic fiber abnormalities in blood vessels and Bruch's membrane in the eye, whereas no clear changes were seen in the extracellular matrix of the skin. Calcification of blood vessels is most prominent in small arteries in the cortex of the kidney, but in old mice, it occurrs also in other organs and in the aorta and vena cava (PubMed:15888484). Mice have reduced inorganic pyrophosphate (PPi) plasma levels, a strong inhibitor of mineralization (PubMed:24277820). Belongs to the ABC transporter superfamily. ABCC family. Conjugate transporter (TC 3.A.1.208) subfamily. nucleotide binding ATP binding nucleus plasma membrane membrane integral component of membrane basolateral plasma membrane apical plasma membrane lateral plasma membrane ATPase activity ATPase activity, coupled to transmembrane movement of substances transmembrane transport uc009gya.1 uc009gya.2 uc009gya.3 
ENSMUST00000002855.14 Kdelr1 ENSMUST00000002855.14 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 (from RefSeq NM_133950.2) ENSMUST00000002855.1 ENSMUST00000002855.10 ENSMUST00000002855.11 ENSMUST00000002855.12 ENSMUST00000002855.13 ENSMUST00000002855.2 ENSMUST00000002855.3 ENSMUST00000002855.4 ENSMUST00000002855.5 ENSMUST00000002855.6 ENSMUST00000002855.7 ENSMUST00000002855.8 ENSMUST00000002855.9 ERD21_MOUSE NM_133950 Q99JH8 uc009gxn.1 uc009gxn.2 uc009gxn.3 Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum. Upon ligand binding the receptor oligomerizes and interacts with components of the transport machinery such as ARFGAP1 and ARF1. Golgi apparatus membrane ; Multi-pass membrane protein Cytoplasmic vesicle, COPI-coated vesicle membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein Endoplasmic reticulum-Golgi intermediate compartment membrane ; Multi-pass membrane protein Note=Localized in the Golgi in the absence of bound proteins with the sequence motif K-D-E-L. Trafficks back to the endoplasmic reticulum together with cargo proteins containing the sequence motif K-D-E-L. Phosphorylation by PKA at Ser-209 is required for endoplasmic reticulum retention function. Belongs to the ERD2 family. Golgi membrane T cell cytokine production KDEL sequence binding endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus cis-Golgi network protein retention in ER lumen ER to Golgi vesicle-mediated transport retrograde vesicle-mediated transport, Golgi to ER protein transport membrane integral component of membrane vesicle-mediated transport T cell differentiation COPI-coated vesicle membrane cytoplasmic vesicle endoplasmic reticulum-Golgi intermediate compartment membrane ER retention sequence binding T cell apoptotic process uc009gxn.1 uc009gxn.2 uc009gxn.3 
ENSMUST00000002880.7 Btbd6 ENSMUST00000002880.7 BTB domain containing 6, transcript variant 1 (from RefSeq NM_201646.2) BTBD6_MOUSE ENSMUST00000002880.1 ENSMUST00000002880.2 ENSMUST00000002880.3 ENSMUST00000002880.4 ENSMUST00000002880.5 ENSMUST00000002880.6 NM_201646 Q3UIB3 Q8K2J9 uc288jpp.1 uc288jpp.2 Adapter protein for the cul3 E3 ubiquitin-protein ligase complex (By similarity). Involved in late neuronal development and muscle formation (By similarity). Cytoplasm Note=Found in punctated bodies in the cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8K2J9-2; Sequence=Displayed; Name=2; IsoId=Q8K2J9-1; Sequence=VSP_061437; Sequence=AAH31195.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; cytoplasm cytosol neurogenesis uc288jpp.1 uc288jpp.2 
ENSMUST00000002883.7 Sfrp4 ENSMUST00000002883.7 secreted frizzled-related protein 4 (from RefSeq NM_016687.3) ENSMUST00000002883.1 ENSMUST00000002883.2 ENSMUST00000002883.3 ENSMUST00000002883.4 ENSMUST00000002883.5 ENSMUST00000002883.6 NM_016687 Q91ZX9 Q9Z1N6 SFRP4_MOUSE uc007ppg.1 uc007ppg.2 uc007ppg.3 uc007ppg.4 uc007ppg.5 Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types (PubMed:27355534). SFRP4 plays a role in bone morphogenesis (PubMed:27355534). May also act as a regulator of adult uterine morphology and function. May also increase apoptosis during ovulation possibly through modulation of FZ1/FZ4/WNT4 signaling (By similarity). Has phosphaturic effects by specifically inhibiting sodium-dependent phosphate uptake (By similarity). Secreted Expressed in the ovary. Localized to granulosa cells of periovulatory follicles and corpora lutea. Weakly expressed in adult tissues including kidney, brain and lung. Only weakly expressed in developing embryo except for developing teeth, eye and salivary gland. In the developing eye, from 12.5 dpc, expressed in the future neural retina, in both the inner and outer cell layers. In the developing teeth, strong expression detected in the developing incisor teeth at 14.5 dpc. Expression localized to the mesenchyme of the dental follicle surrounding the enamel organ only at the early cap stage. Highly expressed in the branching epithelium of the salivary gland. Induced in ovaries by chorionic gonadotropin (CG). The FZ domain is involved in binding with Wnt ligands. Mice laking Sfrp4 have increased trabecular bone, reduced cortical-bone thickness, and failure of bone modeling during growth, resulting in wider bones with thinner and mechanically inadequate cortexes. Belongs to the secreted frizzled-related protein (sFRP) family. positive regulation of receptor internalization extracellular region extracellular space nucleus cytoplasm multicellular organism development negative regulation of cell proliferation cell surface positive regulation of gene expression Wnt signaling pathway Wnt-protein binding cell differentiation regulation of BMP signaling pathway non-canonical Wnt signaling pathway positive regulation of apoptotic process negative regulation of sequence-specific DNA binding transcription factor activity positive regulation of epidermal cell differentiation negative regulation of JNK cascade phosphate ion homeostasis canonical Wnt signaling pathway bone morphogenesis negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway positive regulation of keratinocyte apoptotic process negative regulation of non-canonical Wnt signaling pathway negative regulation of sodium-dependent phosphate transport uc007ppg.1 uc007ppg.2 uc007ppg.3 uc007ppg.4 uc007ppg.5 
ENSMUST00000002885.8 Epdr1 ENSMUST00000002885.8 ependymin related 1 (from RefSeq NM_134065.4) ENSMUST00000002885.1 ENSMUST00000002885.2 ENSMUST00000002885.3 ENSMUST00000002885.4 ENSMUST00000002885.5 ENSMUST00000002885.6 ENSMUST00000002885.7 EPDR1_MOUSE Epdr2 Merp1 Merp2 NM_134065 Q06BK9 Q8BQY1 Q8CAI2 Q99M71 uc007ppe.1 uc007ppe.2 uc007ppe.3 uc007ppe.4 Binds anionic lipids and gangliosides at acidic pH. Homodimer. Lysosome lumen Secreted Note=Lysosomal and also secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99M71-1; Sequence=Displayed; Name=2; IsoId=Q99M71-2; Sequence=VSP_031977; Detected in brain, small intestine and in soleus, extensor digitorum longus and white gastrocnemius (at protein level) (PubMed:16954209). Detected in brain and skeletal muscle, and at lower leavels in heart (PubMed:11749721). N-glycosylated; the glycan contains mannose-6-phosphate moieties. Belongs to the ependymin family. molecular_function calcium ion binding extracellular region extracellular space lysosome cell-matrix adhesion biological_process lipid binding lysosomal lumen uc007ppe.1 uc007ppe.2 uc007ppe.3 uc007ppe.4 
ENSMUST00000002889.5 Flii ENSMUST00000002889.5 flightless I actin binding protein, transcript variant 1 (from RefSeq NM_022009.2) ENSMUST00000002889.1 ENSMUST00000002889.2 ENSMUST00000002889.3 ENSMUST00000002889.4 FLII_MOUSE Fli1 Fliih NM_022009 Q8K095 Q8VI44 Q9JJ28 uc007jgh.1 uc007jgh.2 uc007jgh.3 uc007jgh.4 This gene encodes a protein with gelsolin-like repeats and an N-terminal leucine-rich repeat domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. This protein may act as an actin-remodelling protein as well as a transcriptional coactivator. Homozygous knockout mice show embryonic lethality. This protein may act to regulate wound repair. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]. May play a role as coactivator in transcriptional activation by hormone-activated nuclear receptors (NR) and acts in cooperation with NCOA2 and CARM1. Involved in estrogen hormone signaling (By similarity). Essential for early embryonic development. May play a role in regulation of cytoskeletal rearrangements involved in cytokinesis and cell migration, by inhibiting Rac1-dependent paxillin phosphorylation. Interacts with actin, ACTL6A, NCOA2 and MYD88 (By similarity). Interacts with LRRFIP1 and LRRFIP2. Upon LPS stimulation, LRRFIP2 competes for MYD88-binding. LRRFIP1 constitutively blocks the interaction with MyD88, even in the absence of LPS (By similarity). Interacts with the nuclear receptors ESR1 and THRB (By similarity). Interacts with CARM1. Interacts with SGK3. Q9JJ28; Q6PHZ2: Camk2d; NbExp=5; IntAct=EBI-7996161, EBI-2308458; Nucleus. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, focal adhesion. Note=Colocalizes to actin-rich structures in blastocysts and, together with HRAS, RHOA and CDC42, in migrating fibroblasts. Localizes to centrosomes. Expressed in blastocyst. Up-regulated in response to wounding. Increases the percentage of focal complex positive cells. Flii deficiency causes lethality during early embryogenesis at a stage preceding gastrulation. Sequence=AAH32282.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence=; actin binding protein binding nucleus nucleoplasm cytoplasm microtubule organizing center cytosol cytoskeleton brush border focal adhesion multicellular organism development actin cytoskeleton organization cell junction actin filament severing actin filament binding uc007jgh.1 uc007jgh.2 uc007jgh.3 uc007jgh.4 
ENSMUST00000002891.11 Top3a ENSMUST00000002891.11 topoisomerase (DNA) III alpha (from RefSeq NM_009410.4) ENSMUST00000002891.1 ENSMUST00000002891.10 ENSMUST00000002891.2 ENSMUST00000002891.3 ENSMUST00000002891.4 ENSMUST00000002891.5 ENSMUST00000002891.6 ENSMUST00000002891.7 ENSMUST00000002891.8 ENSMUST00000002891.9 NM_009410 Q5NCT2 Q5NCT2_MOUSE Top3a uc007jgl.1 uc007jgl.2 uc007jgl.3 Introduces a single-strand break via transesterification at a target site in duplex DNA. Releases the supercoiling and torsional tension of DNA introduced during the DNA replication and transcription by transiently cleaving and rejoining one strand of the DNA duplex. The scissile phosphodiester is attacked by the catalytic tyrosine of the enzyme, resulting in the formation of a DNA-(5'-phosphotyrosyl)-enzyme intermediate and the expulsion of a 3'-OH DNA strand. Reaction=ATP-independent breakage of single-stranded DNA, followed by passage and rejoining.; EC=5.6.2.1; Evidence= Belongs to the type IA topoisomerase family. DNA binding single-stranded DNA binding DNA topoisomerase activity DNA topoisomerase type I activity chromosome mitochondrion DNA topological change zinc ion binding PML body isomerase activity mitochondrial DNA metabolic process chromosome separation uc007jgl.1 uc007jgl.2 uc007jgl.3 
ENSMUST00000002902.8 Qtrt1 ENSMUST00000002902.8 queuine tRNA-ribosyltransferase catalytic subunit 1 (from RefSeq NM_021888.2) ENSMUST00000002902.1 ENSMUST00000002902.2 ENSMUST00000002902.3 ENSMUST00000002902.4 ENSMUST00000002902.5 ENSMUST00000002902.6 ENSMUST00000002902.7 NM_021888 Q80VS3 Q9JMA2 Qtrt1 TGT_MOUSE Tgt Tgut uc009oli.1 uc009oli.2 uc009oli.3 uc009oli.4 Catalytic subunit of the queuine tRNA-ribosyltransferase (TGT) that catalyzes the base-exchange of a guanine (G) residue with queuine (Q) at position 34 (anticodon wobble position) in tRNAs with GU(N) anticodons (tRNA-Asp, -Asn, -His and -Tyr), resulting in the hypermodified nucleoside queuosine (7-(((4,5-cis-dihydroxy-2- cyclopenten-1-yl)amino)methyl)-7-deazaguanosine) (PubMed:19414587, PubMed:29862811). Catalysis occurs through a double-displacement mechanism. The nucleophile active site attacks the C1' of nucleotide 34 to detach the guanine base from the RNA, forming a covalent enzyme-RNA intermediate. The proton acceptor active site deprotonates the incoming queuine, allowing a nucleophilic attack on the C1' of the ribose to form the product (By similarity). Reaction=guanosine(34) in tRNA + queuine = guanine + queuosine(34) in tRNA; Xref=Rhea:RHEA:16633, Rhea:RHEA-COMP:10341, Rhea:RHEA- COMP:18571, ChEBI:CHEBI:16235, ChEBI:CHEBI:17433, ChEBI:CHEBI:74269, ChEBI:CHEBI:194431; EC=2.4.2.64; Evidence= Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Heterodimer of a catalytic subunit QTRT1 and an accessory subunit QTRT2. Cytoplasm tochondrion outer membrane ; Peripheral membrane protein ytoplasmic side cleus Note=Weakly associates with mitochondria, possibly via QTRT2. Expressed in brain, heart, kidney, liver, ling, skeletal muscle, spleen and testis. Belongs to the queuine tRNA-ribosyltransferase family. Sequence=BAB27717.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAB27717.1; Type=Frameshift; Evidence=; protein binding nucleus cytoplasm mitochondrion mitochondrial outer membrane tRNA modification tRNA processing queuine tRNA-ribosyltransferase activity membrane transferase activity transferase activity, transferring glycosyl groups transferase activity, transferring pentosyl groups macromolecular complex protein homodimerization activity metal ion binding protein heterodimerization activity tRNA-guanine transglycosylation uc009oli.1 uc009oli.2 uc009oli.3 uc009oli.4 
ENSMUST00000002911.10 Hdgfl2 ENSMUST00000002911.10 HDGF like 2, transcript variant 5 (from RefSeq NM_001424790.1) D6CHX5 ENSMUST00000002911.1 ENSMUST00000002911.2 ENSMUST00000002911.3 ENSMUST00000002911.4 ENSMUST00000002911.5 ENSMUST00000002911.6 ENSMUST00000002911.7 ENSMUST00000002911.8 ENSMUST00000002911.9 HDGR2_MOUSE Hdgfrp2 NM_001424790 O35540 Q3UIH6 Q3UMU9 Q99L92 uc008dav.1 uc008dav.2 uc008dav.3 uc008dav.4 uc008dav.5 uc008dav.6 Acts as an epigenetic regulator of myogenesis in cooperation with DPF3a (isoform 2 of DPF3/BAF45C) (PubMed:32459350). Associates with the BAF complex via its interaction with DPF3a and HDGFL2-DPF3a activate myogenic genes by increasing chromatin accessibility through recruitment of SMARCA4/BRG1/BAF190A (ATPase subunit of the BAF complex) to myogenic gene promoters (PubMed:32459350). Promotes the repair of DNA double-strand breaks (DSBs) through the homologous recombination pathway by facilitating the recruitment of the DNA endonuclease RBBP8 to the DSBs (By similarity). Preferentially binds to chromatin regions marked by H3K9me3, H3K27me3 and H3K36me2 (By similarity). Involved in cellular growth control, through the regulation of cyclin D1 expression (By similarity). Associates with chromatin (PubMed:22212508). [Isoform 1]: Binds to condensed chromatin in mitotic cells. [Isoform 3]: Binds to condensed chromatin in mitotic cells. [Isoform 4]: Binds to non-condensed chromatin in the presence of HDGF. Interacts with trimethylated 'Lys-36' of histone H3 (H3K36me3). Interacts with trimethylated 'Lys-79' of histone H3 (H3K79me3), but has higher affinity for H3K36me3 (By similarity). Interacts with IWS1 (By similarity). Interacts with H2AX, POGZ, RBBP8 and CBX1 (By similarity). Interacts with histones H3K9me3, H3K27me3 and H3K36me2 (By similarity). Interacts with DPF3a (isoform 2 of DPF3/BAF45C) (PubMed:32459350). Interacts with SMARCA4/BRG1/BAF190A, in a DPF3a-dependent manner (PubMed:32459350). Interacts with SMARCC1/BAF155 and SMARCD1/BAF60A in a DPF3a-dependent manner (By similarity). [Isoform 1]: Interacts with HDGF. [Isoform 3]: Interacts with HDGF. [Isoform 4]: Selectively interacts with HDGF (N-terminally processed form). Q3UMU9; P51859: Hdgf; NbExp=4; IntAct=EBI-7627961, EBI-2943087; Q3UMU9-1; P51859: Hdgf; NbExp=4; IntAct=EBI-7627862, EBI-2943087; Q3UMU9-3; P51859: Hdgf; NbExp=4; IntAct=EBI-7627932, EBI-2943087; Cytoplasm [Isoform 1]: Nucleus [Isoform 3]: Nucleus [Isoform 4]: Nucleus Note=Displays a punctate pattern and colocalizes with N-terminally processed HDFG. Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Isoform a; IsoId=Q3UMU9-1; Sequence=Displayed; Name=2; IsoId=Q3UMU9-2; Sequence=VSP_031118, VSP_031119; Name=3; Synonyms=Isoform b; IsoId=Q3UMU9-3; Sequence=VSP_031117; Name=4; Synonyms=Isoform c; IsoId=Q3UMU9-4; Sequence=VSP_047648, VSP_031119; Ubiquitously expressed. Mice show severely impaired post-injury muscle regeneration. Belongs to the HDGF family. chromatin binding protein binding nucleus positive regulation of cell growth uc008dav.1 uc008dav.2 uc008dav.3 uc008dav.4 uc008dav.5 uc008dav.6 
ENSMUST00000002914.10 Chaf1a ENSMUST00000002914.10 chromatin assembly factor 1, subunit A (from RefSeq NM_013733.4) CAF1A_MOUSE Caip150 Chaf1a ENSMUST00000002914.1 ENSMUST00000002914.2 ENSMUST00000002914.3 ENSMUST00000002914.4 ENSMUST00000002914.5 ENSMUST00000002914.6 ENSMUST00000002914.7 ENSMUST00000002914.8 ENSMUST00000002914.9 NM_013733 Q3TU22 Q544M2 Q9QWF0 uc008das.1 uc008das.2 uc008das.3 Core component of the CAF-1 complex, a complex that is thought to mediate chromatin assembly in DNA replication and DNA repair. Assembles histone octamers onto replicating DNA in vitro. CAF-1 performs the first step of the nucleosome assembly process, bringing newly synthesized histones H3 and H4 to replicating DNA; histones H2A/H2B can bind to this chromatin precursor subsequent to DNA replication to complete the histone octamer. It may play a role in heterochromatin maintenance in proliferating cells by bringing newly synthesized cbx proteins to heterochromatic DNA replication foci. Homodimer. Part of the CAF-1 complex that contains RBBP4, CHAF1B and CHAF1A. CHAF1A binds directly to CHAF1B. Only minor amounts of RBBP4 are complexed with CHAF1A and CHAF1B in G1 phase. CHAF1A binds directly to PCNA and to CBX1. Interacts with MBD1. Interacts directly with CBX5 via the PxVxL motif. Interacts with CBX5. Interacts with histones H3.1, H3.2 and H3.1t (By similarity). Q9QWF0; P83917: Cbx1; NbExp=3; IntAct=EBI-639217, EBI-78119; Q9QWF0; P70338: Gfi1; NbExp=5; IntAct=EBI-639217, EBI-3954754; Nucleus Note=DNA replication foci. Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain. Belongs to the CHAF1A family. nuclear chromatin protein binding nucleus DNA replication DNA repair nucleosome assembly DNA replication-dependent nucleosome assembly cellular response to DNA damage stimulus cell cycle chromatin assembly macromolecular complex CAF-1 complex identical protein binding chromo shadow domain binding uc008das.1 uc008das.2 uc008das.3 
ENSMUST00000002923.10 Adprh ENSMUST00000002923.10 ADP-ribosylarginine hydrolase (from RefSeq NM_007414.3) Adprh ENSMUST00000002923.1 ENSMUST00000002923.2 ENSMUST00000002923.3 ENSMUST00000002923.4 ENSMUST00000002923.5 ENSMUST00000002923.6 ENSMUST00000002923.7 ENSMUST00000002923.8 ENSMUST00000002923.9 NM_007414 Q3U5N4 Q3U5N4_MOUSE uc007zex.1 uc007zex.2 uc007zex.3 Belongs to the ADP-ribosylglycohydrolase family. magnesium ion binding ADP-ribosylarginine hydrolase activity extracellular space cytosol cellular protein modification process hydrolase activity potassium ion binding protein de-ADP-ribosylation uc007zex.1 uc007zex.2 uc007zex.3 
ENSMUST00000002925.6 Timmdc1 ENSMUST00000002925.6 translocase of inner mitochondrial membrane domain containing 1 (from RefSeq NM_024273.2) ENSMUST00000002925.1 ENSMUST00000002925.2 ENSMUST00000002925.3 ENSMUST00000002925.4 ENSMUST00000002925.5 NM_024273 Q8BUY5 Q99LS9 Q9CSI1 TIDC1_MOUSE Timmdc1 uc012afp.1 uc012afp.2 uc012afp.3 Chaperone protein involved in the assembly of the mitochondrial NADH:ubiquinone oxidoreductase complex (complex I). Participates in constructing the membrane arm of complex I (By similarity). Associates with the intermediate 315 kDa subcomplex of incompletely assembled complex I. Interacts with TMEM70 (By similarity). Mitochondrion membrane ; Multi-pass membrane protein Belongs to the Tim17/Tim22/Tim23 family. molecular_function nucleus nucleoplasm mitochondrion biological_process membrane integral component of membrane mitochondrial membrane uc012afp.1 uc012afp.2 uc012afp.3 
ENSMUST00000002926.8 Pla1a ENSMUST00000002926.8 phospholipase A1 member A (from RefSeq NM_134102.4) E9QN71 ENSMUST00000002926.1 ENSMUST00000002926.2 ENSMUST00000002926.3 ENSMUST00000002926.4 ENSMUST00000002926.5 ENSMUST00000002926.6 ENSMUST00000002926.7 NM_134102 PLA1A_MOUSE Pla1a Pspla1 Q8VI78 Q99J51 uc007zew.1 uc007zew.2 Hydrolyzes the ester bond of the acyl group attached at the sn-1 position of phosphatidylserines (phospholipase A1 activity) and 1- acyl-2-lysophosphatidylserines (lysophospholipase activity) in the pathway of phosphatidylserines acyl chain remodeling (By similarity). Cleaves phosphatidylserines exposed on the outer leaflet of the plasma membrane of apoptotic cells producing 2-acyl-1-lysophosphatidylserines, which in turn enhance mast cell activation and histamine production. Has no activity toward other glycerophospholipids including phosphatidylcholines, phosphatidylethanolamines, phosphatidic acids or phosphatidylinositols, or glycerolipids such as triolein (By similarity). Reaction=a 1,2-diacyl-sn-glycero-3-phospho-L-serine + H2O = a 2-acyl- sn-glycero-3-phospho-L-serine + a fatty acid + H(+); Xref=Rhea:RHEA:42212, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28868, ChEBI:CHEBI:57262, ChEBI:CHEBI:65214; EC=3.1.1.111; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42213; Evidence=; Reaction=1,2-di-(9Z)-octadecenoyl-sn-glycero-3-phospho-L-serine + H2O = (9Z)-octadecenoate + 2-(9Z-octadecenoyl)-sn-glycero-3-phospho-L- serine + H(+); Xref=Rhea:RHEA:40491, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:74905, ChEBI:CHEBI:77342; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40492; Evidence=; Reaction=1-hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero- 3-phospho-L-serine + H2O = 2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn- glycero-3-phospho-L-serine + H(+) + hexadecanoate; Xref=Rhea:RHEA:41187, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:75032, ChEBI:CHEBI:77830; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41188; Evidence=; Reaction=a 1-acyl-sn-glycero-3-phospho-L-serine + H2O = a fatty acid + H(+) + sn-glycero-3-phospho-L-serine; Xref=Rhea:RHEA:32979, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28868, ChEBI:CHEBI:64379, ChEBI:CHEBI:64765; EC=3.1.1.111; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:32980; Evidence=; Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + H2O = (9Z)-octadecenoate + H(+) + sn-glycero-3-phospho-L-serine; Xref=Rhea:RHEA:40499, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:64765, ChEBI:CHEBI:74617; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40500; Evidence=; Secreted Belongs to the AB hydrolase superfamily. Lipase family. acrosomal membrane extracellular region extracellular space lipid metabolic process phosphatidylcholine 1-acylhydrolase activity lipid catabolic process lipase activity hydrolase activity carboxylic ester hydrolase activity uc007zew.1 uc007zew.2 
ENSMUST00000002976.5 Il17ra ENSMUST00000002976.5 interleukin 17 receptor A (from RefSeq NM_008359.2) ENSMUST00000002976.1 ENSMUST00000002976.2 ENSMUST00000002976.3 ENSMUST00000002976.4 I17RA_MOUSE Il17r NM_008359 Q60943 uc009dnj.1 uc009dnj.2 uc009dnj.3 uc009dnj.4 Receptor for IL17A and IL17F, major effector cytokines of innate and adaptive immune system involved in antimicrobial host defense and maintenance of tissue integrity. Receptor for IL17A (PubMed:17911633, PubMed:20554964, PubMed:8777726, PubMed:27923703). Receptor for IL17F (PubMed:17911633, PubMed:20554964). Binds to IL17A with higher affinity than to IL17F (PubMed:17911633). Binds IL17A and IL17F homodimers as part of a heterodimeric complex with IL17RC (By similarity). Also binds heterodimers formed by IL17A and IL17F as part of a heterodimeric complex with IL17RC (By similarity). Cytokine binding triggers homotypic interaction of IL17RA and IL17RC chains with TRAF3IP2 adapter, leading to TRAF6-mediated activation of NF-kappa-B and MAPkinase pathways, ultimately resulting in transcriptional activation of cytokines, chemokines, antimicrobial peptides and matrix metalloproteinases, with potential strong immune inflammation (By similarity). Involved in antimicrobial host defense primarily promoting neutrophil activation and recruitment at infection sites to destroy extracellular bacteria and fungi (PubMed:21993848, PubMed:20364087). In secondary lymphoid organs, contributes to germinal center formation by regulating the chemotactic response of B cells to CXCL12 and CXCL13, enhancing retention of B cells within the germinal centers, B cell somatic hypermutation rate and selection toward plasma cells (PubMed:18157131). Plays a role in the maintenance of the integrity of epithelial barriers during homeostasis and pathogen infection. Stimulates the production of antimicrobial beta-defensins DEFB1, DEFB103A, and DEFB104A by mucosal epithelial cells, limiting the entry of microbes through the epithelial barriers (PubMed:19144317). Involved in antiviral host defense through various mechanisms. Enhances immunity against West Nile virus by promoting T cell cytotoxicity (PubMed:27795421). Contributes to influenza A virus (H1N1) clearance by driving the differentiation of B-1a B cells, providing for production of virus-specific IgM antibodies at first line of host defense (PubMed:26735852). Receptor for IL17C as part of a heterodimeric complex with IL17RE (PubMed:21993848, PubMed:21993849, PubMed:21982598). (Microbial infection) Receptor for SARS coronavirus-2/SARS- CoV-2 virus protein ORF8, leading to IL17 pathway activation and an increased secretion of pro-inflammatory factors through activating NF- kappa-B signaling pathway. Forms heterodimers with IL17RC; the heterodimer binds IL17A and IL17F homodimers as well as the heterodimer formed by IL17A and IL17F (PubMed:20554964). Forms complexes with 2:1 binding stoichiometry: two receptor chains for one interleukin molecule (By similarity). IL17A homodimer preferentially drives the formation of IL17RA-IL17RC heterodimeric receptor complex, whereas IL17F homodimer forms predominantly complexes with IL17RC homodimer (By similarity). IL17A homodimer adopts an asymmetrical ternary structure with one IL17RA molecule, allowing for high affinity interactions of one IL17A monomer with one IL17RA molecule (via D1 and D2 domains), while disfavoring binding of a second IL17RA molecule on the other IL17A monomer (By similarity). IL17A-IL17F forms complexes with IL17RA- IL17RC, but with lower affinity when compared to IL17A homodimer (By similarity). IL17RA chain cannot distinguish between IL17A and IL17F molecules, potentially enabling the formation of topologically distinct complexes (By similarity). Interacts with TRAF3IP2 (By similarity). Forms heterodimers with IL17RE; the heterodimer binds IL17C (PubMed:21993848). (Microbial infection) Interacts with SARS coronavirus-2/SARS- CoV-2 virus protein ORF8. Cell membrane ; Single-pass type I membrane protein Widely expressed (PubMed:21993848). Highly expressed in T cells and macrophages (PubMed:19144317). Highly expressed in B-1a B cells and at a lower extent in B-1b and B-2 B cells (at protein level) (PubMed:26735852). Up-regulated in brain upon West Nile virus infection. Mutant mice are susceptibile to S.aureus cutaneous infection (PubMed:20364087). Mutant mice are susceptible to A. fumigatus pulmonary infection characterized by excessive mucus production, goblet cell hyperplasia and exacerbated T-helper 2 allergic inflammation (PubMed:28813677). receptor binding plasma membrane membrane integral component of membrane cytokine-mediated signaling pathway interleukin-17 receptor activity positive regulation of interleukin-23 production positive regulation of inflammatory response defense response to fungus cellular response to cytokine stimulus granulocyte chemotaxis fibroblast activation positive regulation of cytokine production involved in inflammatory response positive regulation of interleukin-5 secretion positive regulation of interleukin-13 secretion uc009dnj.1 uc009dnj.2 uc009dnj.3 uc009dnj.4 
ENSMUST00000002979.16 Lamb1 ENSMUST00000002979.16 laminin B1 (from RefSeq NM_008482.3) E9PXZ9 ENSMUST00000002979.1 ENSMUST00000002979.10 ENSMUST00000002979.11 ENSMUST00000002979.12 ENSMUST00000002979.13 ENSMUST00000002979.14 ENSMUST00000002979.15 ENSMUST00000002979.2 ENSMUST00000002979.3 ENSMUST00000002979.4 ENSMUST00000002979.5 ENSMUST00000002979.6 ENSMUST00000002979.7 ENSMUST00000002979.8 ENSMUST00000002979.9 LAMB1_MOUSE Lamb-1 Lamb1-1 NM_008482 P02469 uc007nhd.1 uc007nhd.2 uc007nhd.3 Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Involved in the organization of the laminar architecture of the cerebral cortex (By similarity). It is probably required for the integrity of the basement membrane/glia limitans that serves as an anchor point for the endfeet of radial glial cells and as a physical barrier to migrating neurons (By similarity). Radial glial cells play a central role in cerebral cortical development, where they act both as the proliferative unit of the cerebral cortex and a scaffold for neurons migrating toward the pial surface (By similarity). Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Beta-1 is a subunit of laminin-1 (laminin-111 or EHS laminin), laminin-2 (laminin- 211 or merosin), laminin-6 (laminin-311 or K-laminin), laminin-8 (laminin-411), laminin-10 (laminin-511) and laminin-12 (laminin-213) (By similarity). Interacts with ITGB1 (PubMed:34427057). P02469; P02468: Lamc1; NbExp=4; IntAct=EBI-6662997, EBI-7059830; P02469; P31696: AGRN; Xeno; NbExp=2; IntAct=EBI-6662997, EBI-457650; Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component. Widely expressed in the embryo. High levels are detected in the cerebellar basement membrane, at postnatal day 7. Sequence=AAA39407.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; integrin binding extracellular matrix structural constituent protein binding extracellular region basement membrane laminin-1 complex laminin-2 complex extracellular space nucleus cell adhesion negative regulation of cell adhesion embryo implantation learning or memory animal organ morphogenesis tissue development cell migration enzyme binding neuronal-glial interaction involved in cerebral cortex radial glia guided migration positive regulation of cell migration extracellular matrix neuron projection development substrate adhesion-dependent cell spreading odontogenesis glycosphingolipid binding laminin complex laminin-8 complex laminin-10 complex perinuclear region of cytoplasm basement membrane assembly uc007nhd.1 uc007nhd.2 uc007nhd.3 
ENSMUST00000002989.11 Arrdc2 ENSMUST00000002989.11 arrestin domain containing 2 (from RefSeq NM_027560.1) ARRD2_MOUSE ENSMUST00000002989.1 ENSMUST00000002989.10 ENSMUST00000002989.2 ENSMUST00000002989.3 ENSMUST00000002989.4 ENSMUST00000002989.5 ENSMUST00000002989.6 ENSMUST00000002989.7 ENSMUST00000002989.8 ENSMUST00000002989.9 NM_027560 Q3UVK8 Q3UXC6 Q9D668 uc009mbt.1 uc009mbt.2 uc009mbt.3 Interacts with WWP1 (via WW domains). Belongs to the arrestin family. molecular_function plasma membrane biological_process cytoplasmic vesicle uc009mbt.1 uc009mbt.2 uc009mbt.3 
ENSMUST00000003017.13 Tbxas1 ENSMUST00000003017.13 thromboxane A synthase 1, platelet, transcript variant 5 (from RefSeq NR_177077.1) Cyp5 Cyp5a1 ENSMUST00000003017.1 ENSMUST00000003017.10 ENSMUST00000003017.11 ENSMUST00000003017.12 ENSMUST00000003017.2 ENSMUST00000003017.3 ENSMUST00000003017.4 ENSMUST00000003017.5 ENSMUST00000003017.6 ENSMUST00000003017.7 ENSMUST00000003017.8 ENSMUST00000003017.9 NR_177077 P36423 P97505 THAS_MOUSE uc009ble.1 uc009ble.2 uc009ble.3 Catalyzes the conversion of prostaglandin H2 (PGH2) to thromboxane A2 (TXA2), a potent inducer of blood vessel constriction and platelet aggregation. Cleaves also PGH2 to 12-hydroxy- heptadecatrienoicacid (12-HHT) and malondialdehyde, which is known to act as a mediator of DNA damage. 12-HHT and malondialdehyde are formed stoichiometrically in the same amounts as TXA2. Additionally, displays dehydratase activity, toward (15S)-hydroperoxy-(5Z,8Z,11Z,13E)- eicosatetraenoate (15(S)-HPETE) producing 15-KETE and 15-HETE. Reaction=prostaglandin H2 = thromboxane A2; Xref=Rhea:RHEA:17137, ChEBI:CHEBI:57405, ChEBI:CHEBI:57445; EC=5.3.99.5; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:17138; Evidence=; Reaction=prostaglandin H2 = (12S)-hydroxy-(5Z,8E,10E)- heptadecatrienoate + malonaldehyde; Xref=Rhea:RHEA:48644, ChEBI:CHEBI:57405, ChEBI:CHEBI:90694, ChEBI:CHEBI:566274; Evidence=; Reaction=a hydroperoxyeicosatetraenoate = an oxoeicosatetraenoate + H2O; Xref=Rhea:RHEA:55556, ChEBI:CHEBI:15377, ChEBI:CHEBI:59720, ChEBI:CHEBI:131859; EC=4.2.1.152; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55557; Evidence=; Reaction=(15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate = 15-oxo- (5Z,8Z,11Z,13E)-eicosatetraenoate + H2O; Xref=Rhea:RHEA:48636, ChEBI:CHEBI:15377, ChEBI:CHEBI:57410, ChEBI:CHEBI:57446; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48637; Evidence=; Reaction=(15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate + AH2 = (15S)-hydroxy-(5Z,8Z,11Z,13E)-eicosatetraenoate + A + H2O; Xref=Rhea:RHEA:48856, ChEBI:CHEBI:13193, ChEBI:CHEBI:15377, ChEBI:CHEBI:17499, ChEBI:CHEBI:57409, ChEBI:CHEBI:57446; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48857; Evidence=; Name=heme; Xref=ChEBI:CHEBI:30413; Evidence=; Monomer. Endoplasmic reticulum membrane ; Multi-pass membrane protein Expressed primarily in lung, kidney, and spleen. Deficient mice are viable, fertile and exhibited no gross abnormalities in size, body weight, and anatomical features of major organs. However deficency causes a mild hemostatic defect and protects mice against arachidonate-induced shock and death. Belongs to the cytochrome P450 family. prostaglandin biosynthetic process monooxygenase activity thromboxane-A synthase activity iron ion binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process prostaglandin metabolic process membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen isomerase activity heme binding cellular chloride ion homeostasis response to ethanol positive regulation of vasoconstriction metal ion binding oxidation-reduction process response to fatty acid uc009ble.1 uc009ble.2 uc009ble.3 
ENSMUST00000003029.14 Timm44 ENSMUST00000003029.14 translocase of inner mitochondrial membrane 44 (from RefSeq NM_011592.2) ENSMUST00000003029.1 ENSMUST00000003029.10 ENSMUST00000003029.11 ENSMUST00000003029.12 ENSMUST00000003029.13 ENSMUST00000003029.2 ENSMUST00000003029.3 ENSMUST00000003029.4 ENSMUST00000003029.5 ENSMUST00000003029.6 ENSMUST00000003029.7 ENSMUST00000003029.8 ENSMUST00000003029.9 Mimt44 NM_011592 O35857 Q2NLC5 TIM44_MOUSE Tim44 uc009ktq.1 uc009ktq.2 uc009ktq.3 uc009ktq.4 Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner (PubMed:31618756). Recruits mitochondrial HSP70 to drive protein translocation into the matrix using ATP as an energy source (By similarity). Probable component of the PAM complex at least composed of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2, TIMM44, TIMM16/PAM16 and TIMM14/DNAJC19 (By similarity). The complex interacts with the TIMM23 component of the TIM23 complex (PubMed:31618756). Interacts with SLC25A4/ANT1 and SLC25A5/ANT2; leading to inhibit the presequence translocase TIMM23, thereby promoting stabilization of PINK1 (PubMed:31618756). Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side Belongs to the Tim44 family. nucleotide binding ATP binding mitochondrion mitochondrial inner membrane mitochondrial matrix intracellular protein transport protein transport membrane enzyme binding protein import into mitochondrial matrix chaperone binding uc009ktq.1 uc009ktq.2 uc009ktq.3 uc009ktq.4 
ENSMUST00000003038.12 Ap2a2 ENSMUST00000003038.12 adaptor-related protein complex 2, alpha 2 subunit, transcript variant 2 (from RefSeq NM_007459.3) AP2A2_MOUSE Adtab ENSMUST00000003038.1 ENSMUST00000003038.10 ENSMUST00000003038.11 ENSMUST00000003038.2 ENSMUST00000003038.3 ENSMUST00000003038.4 ENSMUST00000003038.5 ENSMUST00000003038.6 ENSMUST00000003038.7 ENSMUST00000003038.8 ENSMUST00000003038.9 NM_007459 P17427 Q8C2J5 Q921V0 uc009kls.1 uc009kls.2 uc009kls.3 uc009kls.4 Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L- [LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non- clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 alpha subunit binds polyphosphoinositide-containing lipids, positioning AP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins. The AP-2 alpha and AP-2 sigma subunits are thought to contribute to the recognition of the [ED]-X-X-X-L-[LI] motif. Adaptor protein complex 2 (AP-2) is a heterotetramer composed of two large adaptins (alpha-type subunit AP2A1 or AP2A2 and beta-type subunit AP2B1), a medium adaptin (mu-type subunit AP2M1) and a small adaptin (sigma-type subunit AP2S1) (PubMed:19140243). Binds EPN1, EPS15, AMPH, SNAP91 and BIN1 (PubMed:10380931, PubMed:10430869, PubMed:12057195). Interacts with clathrin (PubMed:10459011). Interacts with HIP1 (By similarity). Interacts with DGKD (PubMed:17880279). Interacts with DENND1A, DENND1B and DENND1C (PubMed:20154091). Interacts with FCHO1 and DAB2 (PubMed:11247302, PubMed:22484487). Interacts with ATAT1; this interaction is required for efficient alpha- tubulin acetylation by ATAT1 (PubMed:24097348). Interacts with KIAA1107 (PubMed:29262337). Together with AP2B1 and AP2M1, it interacts with ADAM10; this interaction facilitates ADAM10 endocytosis from the plasma membrane during long-term potentiation in hippocampal neurons (PubMed:23676497). Interacts with CLN3 (via dileucine motif) (By similarity). Interacts with ABCB11; this interaction regulates cell membrane expression of ABCB11 through its internalization in a clathrin-dependent manner and its subsequent degradation (By similarity). Interacts with Cacfd1 (PubMed:29288152). Cell membrane eripheral membrane protein ; Cytoplasmic side Membrane, coated pit ; Peripheral membrane protein ; Cytoplasmic side Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV. Expressed in the brain (at protein level). Belongs to the adaptor complexes large subunit family. protein binding plasma membrane clathrin-coated pit intracellular protein transport endocytosis synaptic vesicle lipid binding protein transport membrane vesicle-mediated transport protein kinase binding protein domain specific binding membrane coat AP-2 adaptor complex clathrin adaptor complex secretory granule cytoplasmic vesicle phosphatidylinositol binding clathrin adaptor activity macromolecular complex binding clathrin-dependent endocytosis disordered domain specific binding regulation of hematopoietic stem cell differentiation uc009kls.1 uc009kls.2 uc009kls.3 uc009kls.4 
ENSMUST00000003044.14 Pnkp ENSMUST00000003044.14 polynucleotide kinase 3'- phosphatase, transcript variant 1 (from RefSeq NM_021549.3) ENSMUST00000003044.1 ENSMUST00000003044.10 ENSMUST00000003044.11 ENSMUST00000003044.12 ENSMUST00000003044.13 ENSMUST00000003044.2 ENSMUST00000003044.3 ENSMUST00000003044.4 ENSMUST00000003044.5 ENSMUST00000003044.6 ENSMUST00000003044.7 ENSMUST00000003044.8 ENSMUST00000003044.9 G5E8N7 G5E8N7_MOUSE NM_021549 Pnkp uc009grg.1 uc009grg.2 uc009grg.3 uc009grg.4 nucleus nucleolus mitochondrion DNA repair response to oxidative stress negative regulation of protein ADP-ribosylation kinase activity phosphorylation dephosphorylation positive regulation of telomere maintenance via telomerase DNA damage response, detection of DNA damage polynucleotide 3'-phosphatase activity ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity nucleotide phosphorylation nucleoside monophosphate phosphorylation nucleoside phosphate kinase activity positive regulation of telomerase activity DNA 3' dephosphorylation involved in DNA repair polynucleotide 3' dephosphorylation positive regulation of telomere capping uc009grg.1 uc009grg.2 uc009grg.3 uc009grg.4 
ENSMUST00000003061.14 Bcam ENSMUST00000003061.14 basal cell adhesion molecule (from RefSeq NM_020486.2) BCAM_MOUSE ENSMUST00000003061.1 ENSMUST00000003061.10 ENSMUST00000003061.11 ENSMUST00000003061.12 ENSMUST00000003061.13 ENSMUST00000003061.2 ENSMUST00000003061.3 ENSMUST00000003061.4 ENSMUST00000003061.5 ENSMUST00000003061.6 ENSMUST00000003061.7 ENSMUST00000003061.8 ENSMUST00000003061.9 Gplu Lu NM_020486 Q9ESS5 Q9JKB2 Q9R069 uc009fnf.1 uc009fnf.2 uc009fnf.3 Laminin alpha-5 receptor. May mediate intracellular signaling (By similarity). Membrane ; Single-pass type I membrane protein laminin receptor activity plasma membrane integral component of plasma membrane cell adhesion cell-matrix adhesion protein C-terminus binding cell surface membrane integral component of membrane laminin binding uc009fnf.1 uc009fnf.2 uc009fnf.3 
ENSMUST00000003071.10 Apoc4 ENSMUST00000003071.10 apolipoprotein C-IV (from RefSeq NM_007385.3) APOC4_MOUSE Acl ENSMUST00000003071.1 ENSMUST00000003071.2 ENSMUST00000003071.3 ENSMUST00000003071.4 ENSMUST00000003071.5 ENSMUST00000003071.6 ENSMUST00000003071.7 ENSMUST00000003071.8 ENSMUST00000003071.9 NM_007385 Q61268 uc009fmu.1 uc009fmu.2 uc009fmu.3 uc009fmu.4 May participate in lipoprotein metabolism. Secreted. Expressed by the liver and secreted in plasma. Belongs to the apolipoprotein C4 family. extracellular region lipid transport positive regulation of sequestering of triglyceride very-low-density lipoprotein particle high-density lipoprotein particle triglyceride homeostasis uc009fmu.1 uc009fmu.2 uc009fmu.3 uc009fmu.4 
ENSMUST00000003100.10 Cyp2f2 ENSMUST00000003100.10 cytochrome P450, family 2, subfamily f, polypeptide 2 (from RefSeq NM_007817.2) CP2F2_MOUSE Cyp2f-2 ENSMUST00000003100.1 ENSMUST00000003100.2 ENSMUST00000003100.3 ENSMUST00000003100.4 ENSMUST00000003100.5 ENSMUST00000003100.6 ENSMUST00000003100.7 ENSMUST00000003100.8 ENSMUST00000003100.9 NM_007817 P33267 uc009fuy.1 uc009fuy.2 uc009fuy.3 Involved in the regio- and stereoselective transformation of naphthalene to trans-1R-hydroxy-2R-glutathionyl-1,2-dihydronaphthalene in the presence of glutathione and glutathione S-transferases. It specifically catalyzes the production of a very reactive and potentially toxic intermediate, the 2R,2S arene oxide, that is associated with necrosis of the unciliated bronchiolar epithelial cells or club cells in lung. Name=heme; Xref=ChEBI:CHEBI:30413; Evidence=; Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. Club cells in lung and liver. Belongs to the cytochrome P450 family. monooxygenase activity iron ion binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane organic acid metabolic process xenobiotic metabolic process arachidonic acid epoxygenase activity steroid hydroxylase activity response to toxic substance membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen naphthalene metabolic process trichloroethylene metabolic process epoxygenase P450 pathway oxygen binding heme binding organelle membrane exogenous drug catabolic process intracellular membrane-bounded organelle metal ion binding oxidation-reduction process uc009fuy.1 uc009fuy.2 uc009fuy.3 
ENSMUST00000003117.15 Ap1m1 ENSMUST00000003117.15 adaptor-related protein complex AP-1, mu subunit 1 (from RefSeq NM_007456.5) Ap1m1 ENSMUST00000003117.1 ENSMUST00000003117.10 ENSMUST00000003117.11 ENSMUST00000003117.12 ENSMUST00000003117.13 ENSMUST00000003117.14 ENSMUST00000003117.2 ENSMUST00000003117.3 ENSMUST00000003117.4 ENSMUST00000003117.5 ENSMUST00000003117.6 ENSMUST00000003117.7 ENSMUST00000003117.8 ENSMUST00000003117.9 NM_007456 Q3UG16 Q3UG16_MOUSE uc009mfp.1 uc009mfp.2 uc009mfp.3 This gene encodes the mu-1 subunit of the scaffolding adapter protein complex AP-1 and is a member of the mu adaptin family. The AP-1 complex, which consists of 4 subunits (mu-adaptin, beta-prime adaptin, gamma-adaptin, and the small chain adaptin), is one of the predominant coat proteins of membrane vesicles involved in eukaryotic post-Golgi trafficking. The AP-1 complex is located at the Golgi vesicle and links clathrin to receptors in coated vesicles. These vesicles are involved in endocytosis and Golgi processing. AP-1 complex subunit mu-1 and other mu-adaptins select cargo proteins bearing sequence-specific sorting motifs. [provided by RefSeq, Jul 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK148173.1, M62419.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Belongs to the adaptor complexes medium subunit family. intracellular protein transport protein transport membrane vesicle-mediated transport clathrin adaptor complex melanosome organization endosome to melanosome transport uc009mfp.1 uc009mfp.2 uc009mfp.3 
ENSMUST00000003121.9 Rab8a ENSMUST00000003121.9 RAB8A, member RAS oncogene family (from RefSeq NM_023126.2) ENSMUST00000003121.1 ENSMUST00000003121.2 ENSMUST00000003121.3 ENSMUST00000003121.4 ENSMUST00000003121.5 ENSMUST00000003121.6 ENSMUST00000003121.7 ENSMUST00000003121.8 NM_023126 Q0PD50 Q0PD50_MOUSE Rab8A Rab8a uc009mfk.1 uc009mfk.2 uc009mfk.3 Membrane ; Lipid- anchor ; Cytoplasmic side Belongs to the small GTPase superfamily. Rab family. GTPase activity GTP binding Golgi apparatus centrosome plasma membrane cilium vesicle docking involved in exocytosis axonogenesis regulation of autophagy postsynaptic density GDP binding protein kinase binding dendrite midbody cytoplasmic vesicle myosin V binding cellular response to insulin stimulus regulation of protein localization neuronal cell body dendritic spine synapse phagocytic vesicle regulation of long-term neuronal synaptic plasticity Golgi vesicle fusion to target membrane regulation of protein transport recycling endosome membrane cilium assembly protein localization to plasma membrane non-motile cilium neurotransmitter receptor transport, endosome to postsynaptic membrane neurotransmitter receptor transport to postsynaptic membrane glutamatergic synapse vesicle-mediated transport in synapse uc009mfk.1 uc009mfk.2 uc009mfk.3 
ENSMUST00000003123.10 Fam32a ENSMUST00000003123.10 family with sequence similarity 32, member A (from RefSeq NM_026455.5) ENSMUST00000003123.1 ENSMUST00000003123.2 ENSMUST00000003123.3 ENSMUST00000003123.4 ENSMUST00000003123.5 ENSMUST00000003123.6 ENSMUST00000003123.7 ENSMUST00000003123.8 ENSMUST00000003123.9 FA32A_MOUSE MNCb-3154 NM_026455 Otag12 Q8K5E4 Q9CR80 uc009mfn.1 uc009mfn.2 uc009mfn.3 May induce G2 arrest and apoptosis (By similarity). May also increase cell sensitivity to apoptotic stimuli (By similarity). In cell lines, may play a role in the inhibition of anchor-independent cell growth. Nucleus Widely expressed, with highest level in pancreas and lowest in muscle. Belongs to the FAM32 family. nucleus nucleolus apoptotic process cell cycle biological_process uc009mfn.1 uc009mfn.2 uc009mfn.3 
ENSMUST00000003137.15 Cyp2c29 ENSMUST00000003137.15 cytochrome P450, family 2, subfamily c, polypeptide 29, transcript variant 1 (from RefSeq NM_007815.4) CP2CT_MOUSE Cyp2c29 E9QMD8 ENSMUST00000003137.1 ENSMUST00000003137.10 ENSMUST00000003137.11 ENSMUST00000003137.12 ENSMUST00000003137.13 ENSMUST00000003137.14 ENSMUST00000003137.2 ENSMUST00000003137.3 ENSMUST00000003137.4 ENSMUST00000003137.5 ENSMUST00000003137.6 ENSMUST00000003137.7 ENSMUST00000003137.8 ENSMUST00000003137.9 NM_007815 Q64458 Q8WUN8 uc008hjz.1 uc008hjz.2 uc008hjz.3 A cytochrome P450 monooxygenase that selectively catalyzes the epoxidation of 14,15 double bond of (5Z,8Z,11Z,14Z)- eicosatetraenoic acid (arachidonate) forming 14,15-epoxyeicosatrienoic acid (14,15-EET) regioisomer. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH--hemoprotein reductase). Reaction=an organic molecule + O2 + reduced [NADPH--hemoprotein reductase] = an alcohol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:17149, Rhea:RHEA-COMP:11964, Rhea:RHEA- COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:30879, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:142491; EC=1.14.14.1; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:17150; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 + reduced [NADPH-- hemoprotein reductase] = 14,15-epoxy-(5Z,8Z,11Z)-eicosatrienoate + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:51472, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:32395, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:84024; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:51473; Evidence=; Name=heme; Xref=ChEBI:CHEBI:30413; Evidence=; Lipid metabolism; arachidonate metabolism. Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. Expressed in liver as well as in extrahepatic tissues including brain, kidney, lung, heart, and intestine. Belongs to the cytochrome P450 family. monooxygenase activity iron ion binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane organic acid metabolic process xenobiotic metabolic process arachidonic acid epoxygenase activity steroid hydroxylase activity retinoic acid 4-hydroxylase activity membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen epoxygenase P450 pathway heme binding organelle membrane caffeine oxidase activity exogenous drug catabolic process intracellular membrane-bounded organelle metal ion binding oxidation-reduction process aromatase activity estrogen 16-alpha-hydroxylase activity uc008hjz.1 uc008hjz.2 uc008hjz.3 
ENSMUST00000003152.14 Stk11 ENSMUST00000003152.14 serine/threonine kinase 11, transcript variant 1 (from RefSeq NM_011492.5) A0A2L1DGD8 B3VBP0 ENSMUST00000003152.1 ENSMUST00000003152.10 ENSMUST00000003152.11 ENSMUST00000003152.12 ENSMUST00000003152.13 ENSMUST00000003152.2 ENSMUST00000003152.3 ENSMUST00000003152.4 ENSMUST00000003152.5 ENSMUST00000003152.6 ENSMUST00000003152.7 ENSMUST00000003152.8 ENSMUST00000003152.9 Lkb1 NM_011492 Q3TAE0 Q9WTK7 STK11_MOUSE Stk11 uc007gbu.1 uc007gbu.2 uc007gbu.3 uc007gbu.4 This gene encodes a member of the serine/threonine kinase family. The encoded protein, a known tumor suppressor, activates (via phosphorylation) adenine monophosphate-activated protein kinase (AMPK) and AMPK-related kinase proteins. This upstream regulation of the AMPK pathway is thought to regulate a number of different processes, including cell metabolism, cell polarity, apoptosis and DNA damage response. Mutations in a similar gene in human have been associated with Peutz-Jeghers syndrome. Alternative splicing results in multiple transcript variants, including the S isoform which plays a potential role in spermiogenesis. [provided by RefSeq, Sep 2014]. Tumor suppressor serine/threonine-protein kinase that controls the activity of AMP-activated protein kinase (AMPK) family members, thereby playing a role in various processes such as cell metabolism, cell polarity, apoptosis and DNA damage response. Acts by phosphorylating the T-loop of AMPK family proteins, thus promoting their activity: phosphorylates PRKAA1, PRKAA2, BRSK1, BRSK2, MARK1, MARK2, MARK3, MARK4, NUAK1, NUAK2, SIK1, SIK2, SIK3 and SNRK but not MELK. Also phosphorylates non-AMPK family proteins such as STRADA, PTEN and possibly p53/TP53. Acts as a key upstream regulator of AMPK by mediating phosphorylation and activation of AMPK catalytic subunits PRKAA1 and PRKAA2 and thereby regulates processes including: inhibition of signaling pathways that promote cell growth and proliferation when energy levels are low, glucose homeostasis in liver, activation of autophagy when cells undergo nutrient deprivation, and B-cell differentiation in the germinal center in response to DNA damage. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton. Required for cortical neuron polarization by mediating phosphorylation and activation of BRSK1 and BRSK2, leading to axon initiation and specification. Involved in DNA damage response: interacts with p53/TP53 and recruited to the CDKN1A/WAF1 promoter to participate in transcription activation. Able to phosphorylate p53/TP53; the relevance of such result in vivo is however unclear and phosphorylation may be indirect and mediated by downstream STK11/LKB1 kinase NUAK1. Also acts as a mediator of p53/TP53-dependent apoptosis via interaction with p53/TP53: translocates to the mitochondrion during apoptosis and regulates p53/TP53-dependent apoptosis pathways. Regulates UV radiation-induced DNA damage response mediated by CDKN1A. In association with NUAK1, phosphorylates CDKN1A in response to UV radiation and contributes to its degradation which is necessary for optimal DNA repair (PubMed:25329316). [Isoform 2]: Has a role in spermiogenesis. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Activated by forming a complex with STRAD (STRADA or STRADB) and CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta): STRADA (or STRADB)-binding promotes a conformational change of STK11/LKB1 in an active conformation, which is stabilized by CAB39/MO25alpha (or CAB39L/MO25beta) interacting with the STK11/LKB1 activation loop. Sequestration in the nucleus by NR4A1 prevents it from phosphorylating and activating cytoplasmic AMPK (By similarity). Catalytic component of a trimeric complex composed of STK11/LKB1, STRAD (STRADA or STRADB) and CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta): the complex tethers STK11/LKB1 in the cytoplasm and stimulates its catalytic activity. Found in a ternary complex composed of SMAD4, STK11/LKB1 and STK11IP. Interacts with p53/TP53, SMAD4, STK11IP and WDR6. Interacts with NR4A1 (By similarity). Interacts with NISCH; this interaction may increase STK11 activity (By similarity). Interacts with PTEN, leading to PTEN phosphorylation (By similarity). Interacts with SIRT1; the interaction deacetylates STK11 (By similarity). Interacts with CDKN1A. Q9WTK7; Q9CSB4: Pard3b; NbExp=2; IntAct=EBI-8627450, EBI-16107395; Q9WTK7; P54646: PRKAA2; Xeno; NbExp=2; IntAct=EBI-8627450, EBI-1383852; Nucleus. Cytoplasm. Membrane. Mitochondrion Note=Translocates to mitochondrion during apoptosis (By similarity). A small fraction localizes at membranes. Relocates to the cytoplasm when bound to STRAD (STRADA or STRADB) and CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta). PTEN promotes cytoplasmic localization (By similarity). [Isoform 2]: Nucleus Cytoplasm Note=Relocates to the cytoplasm when bound to STRAD (STRADA or STRADB) and CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta). Event=Alternative splicing; Named isoforms=3; Name=1 Synonyms=LKB1(L), STK11C ; IsoId=Q9WTK7-1; Sequence=Displayed; Name=2 ; Synonyms=LKB1(S); IsoId=Q9WTK7-2; Sequence=VSP_052222, VSP_052223; Name=3; Synonyms=STK11N ; IsoId=Q9WTK7-3; Sequence=VSP_060609, VSP_060610; [Isoform 1]: Widely expressed. [Isoform 2]: Predominantly expressed in testis (at protein level). [Isoform 3]: Expressed in adult brain and liver and absent from tissues derived from postnatal day 7. Ubiquitously expressed 7-11 dpc. Present in nucleated embryonic blood cells from 9 dpc. Restricted to gastrointestinal tract, testis and lung from days 15-19 dpc. Phosphorylated by ATM at Thr-366 following ionizing radiation (IR). Phosphorylation at Ser-431 by RPS6KA1 and/or some PKA is required to inhibit cell growth. Phosphorylation at Ser-431 is also required during neuronal polarization to mediate phosphorylation of BRSK1 and BRSK2. Phosphorylation by PKC/PRKCZ at Ser-399 in isoform 2 promotes metformin (or peroxynitrite)-induced nuclear export of STK11 and activation of AMPK. UV radiation-induced phosphorylation at Thr-366 mediates CDKN1A degradation. Acetylated. Deacetylation at Lys-48 enhances cytoplasmic localization and kinase activity in vitro. Mice die in utero 8.5 to 9.5 dpc due to severe defects in their vasculature: embryos show neural tube defects, mesenchymal cell death, and vascular abnormalities. Extraembryonic development is also severely affected; the mutant placentas exhibit defective labyrinth layer development and the fetal vessels fail to invade the placenta. Male mice specifically lacking isoform 2 are sterile (PubMed:18774945). A specifically deletion in liver results in hyperglycemia with increased gluconeogenic and lipogenic gene expression due to loss of AMPK phosphorylation and subsequent dephosphorylation of CRTC2/TORC2 (PubMed:16308421). Use of a conditional allele, leads to defects in defects in axon formation with a thinner cortical wall and larger lateral ventricles in the brain cortex (PubMed:17482548). Heterozygous mice develop multiple gastric adenomatous polyps, with polyps remarkably similar to hamartomas of PJS patients both macroscopically and histologically. Polyps in the heterozygous mice are detected at 5 months, and cause premature lethality progressively from 8 months onwards. Polyps are most frequently observed in the stomach where they typically concentrate close to the pylorus. Polyps in the small and large intestine are significantly less frequent. The histology of the polyps in the heterozygous mice is remarkably similar to PJS polyps including the relative contribution of well-differentiated epithelium, and a prominent smooth muscle component. Ptgs2/Cox2 is highly up-regulated in heterozygous mice polyps concomitantly with activation of the extracellular signal-regulated kinases Mapk1/Erk2 and Mapk3/Erk1: treatment with celecoxib Ptgs2/Cox2 inhibitor significantly reduces the total polyp burden. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. LKB1 subfamily. nucleotide binding magnesium ion binding regulation of cell growth tissue homeostasis vasculature development p53 binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus nucleoplasm cytoplasm mitochondrion cytosol protein phosphorylation protein dephosphorylation autophagy apoptotic process cellular response to DNA damage stimulus cell cycle cell cycle arrest spermatogenesis spermatid development axonogenesis negative regulation of cell proliferation response to ionizing radiation positive regulation of autophagy membrane kinase activity phosphorylation transferase activity establishment of cell polarity regulation of Wnt signaling pathway cell differentiation LRR domain binding protein kinase activator activity negative regulation of cell growth positive regulation of transforming growth factor beta receptor signaling pathway activation of protein kinase activity macromolecular complex response to lipid glucose homeostasis anoikis macromolecular complex binding positive thymic T cell selection positive regulation of gluconeogenesis protein autophosphorylation metal ion binding regulation of dendrite morphogenesis positive regulation of axonogenesis T cell receptor signaling pathway protein heterooligomerization Golgi localization regulation of protein kinase B signaling canonical Wnt signaling pathway negative regulation of epithelial cell proliferation involved in prostate gland development cellular response to UV-B intrinsic apoptotic signaling pathway by p53 class mediator negative regulation of canonical Wnt signaling pathway dendrite extension positive regulation of protein localization to nucleus negative regulation of TORC1 signaling uc007gbu.1 uc007gbu.2 uc007gbu.3 uc007gbu.4 
ENSMUST00000003154.7 Efna2 ENSMUST00000003154.7 ephrin A2 (from RefSeq NM_007909.3) EFNA2_MOUSE ENSMUST00000003154.1 ENSMUST00000003154.2 ENSMUST00000003154.3 ENSMUST00000003154.4 ENSMUST00000003154.5 ENSMUST00000003154.6 Elf1 Epl6 Eplg6 Lerk6 NM_007909 P52801 uc007gcg.1 uc007gcg.2 uc007gcg.3 Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. With the EPHA2 receptor may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis. Binds to the receptor tyrosine kinases EPHA3, EPHA4 and EPHA5. Interacts with EPHA8; activates EPHA8. Cell membrane ; Lipid-anchor, GPI- anchor Expressed in myogenic progenitor cells. In myogenic progenitor cells, highly expressed, at least as early as 11.5 dpc, expression decreases gradually until adulthood. Belongs to the ephrin family. protein binding plasma membrane axon guidance membrane olfactory bulb development osteoclast differentiation anchored component of membrane neuromuscular junction perikaryon bone remodeling ephrin receptor binding ephrin receptor signaling pathway uc007gcg.1 uc007gcg.2 uc007gcg.3 
ENSMUST00000003183.12 Ppp5c ENSMUST00000003183.12 protein phosphatase 5, catalytic subunit, transcript variant 4 (from RefSeq NR_184427.1) ENSMUST00000003183.1 ENSMUST00000003183.10 ENSMUST00000003183.11 ENSMUST00000003183.2 ENSMUST00000003183.3 ENSMUST00000003183.4 ENSMUST00000003183.5 ENSMUST00000003183.6 ENSMUST00000003183.7 ENSMUST00000003183.8 ENSMUST00000003183.9 G5E819 NR_184427 O35299 PPP5_MOUSE Q60676 uc009fiq.1 uc009fiq.2 uc009fiq.3 uc009fiq.4 uc009fiq.5 Serine/threonine-protein phosphatase that dephosphorylates a myriad of proteins involved in different signaling pathways including the kinases CSNK1E, ASK1/MAP3K5, PRKDC and RAF1, the nuclear receptors NR3C1, PPARG, ESR1 and ESR2, SMAD proteins and TAU/MAPT (PubMed:17376776, PubMed:21994940, PubMed:22526606). Implicated in wide ranging cellular processes, including apoptosis, differentiation, DNA damage response, cell survival, regulation of ion channels or circadian rhythms, in response to steroid and thyroid hormones, calcium, fatty acids, TGF-beta as well as oxidative and genotoxic stresses (By similarity). Participates in the control of DNA damage response mechanisms such as checkpoint activation and DNA damage repair through, for instance, the regulation ATM/ATR-signaling and dephosphorylation of PRKDC and TP53BP1 (PubMed:17376776). Inhibits ASK1/MAP3K5-mediated apoptosis induced by oxidative stress (By similarity). Plays a positive role in adipogenesis, mainly through the dephosphorylation and activation of PPARG transactivation function (PubMed:21994940). Also dephosphorylates and inhibits the anti-adipogenic effect of NR3C1 (PubMed:21994940). Regulates the circadian rhythms, through the dephosphorylation and activation of CSNK1E. May modulate TGF-beta signaling pathway by the regulation of SMAD3 phosphorylation and protein expression levels. Dephosphorylates and may play a role in the regulation of TAU/MAPT (By similarity). Through their dephosphorylation, may play a role in the regulation of ions channels such as KCNH2 (By similarity). Dephosphorylate FNIP1, disrupting interaction with HSP90AA1/Hsp90 (By similarity). Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:20630; Evidence=; Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA- COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47005; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 Mg(2+) or Mn(2+) cations per subunit. ; Autoinhibited. In the autoinhibited state, the TPR domain interacts with the catalytic region and prevents substrate access to the catalytic pocket. Allosterically activated by various polyunsaturated fatty acids, free long-chain fatty-acids and long-chain fatty acyl-CoA esters, arachidonic acid being the most effective activator. HSP90A and probably RAC1, GNA12 and GNA13 can also release the autoinhibition by the TPR repeat. Activation by RAC1, GNA12 and GNA13 is synergistic with the one produced by fatty acids binding. Inhibited by okadaic acid. Probably forms a complex composed of chaperones HSP90 and HSP70, co-chaperones STIP1/HOP, CDC37, PPP5C, PTGES3/p23, TSC1 and client protein TSC2 (By similarity). Probably forms a complex composed of chaperones HSP90 and HSP70, co-chaperones CDC37, PPP5C, TSC1 and client protein TSC2, CDK4, AKT, RAF1 and NR3C1; this complex does not contain co-chaperones STIP1/HOP and PTGES3/p23 (By similarity). Part of a complex with HSP90/HSP90AA1 and steroid receptors (PubMed:9195923). Interacts (via TPR repeats) with HSP90AA1 (via TPR repeat-binding motif) or HSPA1A/HSPA1B; the interaction is direct and activates the phosphatase activity (By similarity). Dissociates from HSPA1A/HSPA1B and HSP90AA1 in response to arachidonic acid (By similarity). Interacts with CPNE1 (via VWFA domain) (PubMed:12522145). Interacts with CDC16, CDC27 (By similarity). Interacts with KLHDC10 (via the 6 Kelch repeats); inhibits the phosphatase activity on MAP3K5 (By similarity). Interacts with ATM and ATR; both interactions are induced by DNA damage and enhance ATM and ATR kinase activity (By similarity). Interacts with RAD17; reduced by DNA damage (By similarity). Interacts with nuclear receptors such as NR3C1/GCR and PPARG (activated by agonist); regulates their transactivation activities (PubMed:9195923, PubMed:21994940). Interacts (via TPR repeats) with S100 proteins S100A1, S100A2, S100A6, S100B and S100P; the interactions are calcium-dependent, strongly activate PPP5C phosphatase activity and compete with HSP90AA1 and MAP3K5 interactions (By similarity). Interacts with SMAD2 and SMAD3 but not with SMAD1; decreases SMAD3 phosphorylation and protein levels (By similarity). Interacts (via TPR repeats) with CRY1 and CRY2; the interaction with CRY2 down-regulates the phosphatase activity on CSNK1E (By similarity). Interacts (via TPR repeats) with the active form of RAC1, GNA12 or GNA13; these interactions activate the phosphatase activity and translocate PPP5C to the cell membrane (By similarity). Interacts with FLCN (By similarity). Nucleus Cytoplasm Cell membrane Note=Predominantly nuclear. But also present in the cytoplasm. Translocates from the cytoplasm to the plasma membrane in a RAC1-dependent manner. Expressed in liver (at protein level) and brain, enriched in suprachiasmatic nuclei. Does not show circadian oscillation. Activated by at least two different proteolytic cleavages producing a 56 kDa and a 50 kDa form. Animals are fertile with a growth rate equivalent to that of wild-type. Males weigh less, exhibit reduced fasting glycaemia and improved glucose tolerance, but retain normal insulin sensitivity. Belongs to the PPP phosphatase family. PP-5 (PP-T) subfamily. negative regulation of protein phosphorylation G-protein alpha-subunit binding RNA binding phosphoprotein phosphatase activity protein serine/threonine phosphatase activity protein binding ATP binding nucleus cytoplasm cytosol plasma membrane protein dephosphorylation microtubule binding response to lead ion membrane histone dephosphorylation hydrolase activity phosphatase activity heat shock protein binding macromolecular complex identical protein binding neuron projection neuronal cell body perikaryon intracellular membrane-bounded organelle response to morphine ADP binding metal ion binding protein oligomerization protein heterooligomerization Hsp90 protein binding negative regulation of cell death cellular response to hydrogen peroxide cellular response to cadmium ion cell periphery negative regulation of neuron death response to arachidonic acid proximal dendrite positive regulation of glucocorticoid receptor signaling pathway uc009fiq.1 uc009fiq.2 uc009fiq.3 uc009fiq.4 uc009fiq.5 
ENSMUST00000003207.11 Lipe ENSMUST00000003207.11 lipase, hormone sensitive, transcript variant 1 (from RefSeq NM_010719.5) ENSMUST00000003207.1 ENSMUST00000003207.10 ENSMUST00000003207.2 ENSMUST00000003207.3 ENSMUST00000003207.4 ENSMUST00000003207.5 ENSMUST00000003207.6 ENSMUST00000003207.7 ENSMUST00000003207.8 ENSMUST00000003207.9 LIPS_MOUSE NM_010719 P54310 P97866 Q3TE34 Q6GU16 Q8CDI9 uc009fsr.1 uc009fsr.2 uc009fsr.3 Lipase with broad substrate specificity, catalyzing the hydrolysis of triacylglycerols (TAGs), diacylglycerols (DAGs), monoacylglycerols (MAGs), cholesteryl esters and retinyl esters (PubMed:15550674, PubMed:20625037, PubMed:21454566, PubMed:23066022, PubMed:23291629). Shows a preferential hydrolysis of DAGs over TAGs and MAGs and of the fatty acid (FA) esters at the sn-1 and sn-2 positions of the glycerol backbone in TAGs (By similarity). Preferentially hydrolyzes FA esters at the sn-3 position of the glycerol backbone in DAGs (PubMed:23066022). Catalyzes the hydrolysis of 2- arachidonoylglycerol, an endocannabinoid and of 2-acetyl monoalkylglycerol ether, the penultimate precursor of the pathway for de novo synthesis of platelet-activating factor (PubMed:20625037, PubMed:21454566). In adipose tissue and heart, it primarily hydrolyzes stored triglycerides to free fatty acids, while in steroidogenic tissues, it principally converts cholesteryl esters to free cholesterol for steroid hormone production (By similarity). Reaction=a diacylglycerol + H2O = a fatty acid + a monoacylglycerol + H(+); Xref=Rhea:RHEA:32731, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17408, ChEBI:CHEBI:18035, ChEBI:CHEBI:28868; EC=3.1.1.79; Evidence=; Reaction=a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+); Xref=Rhea:RHEA:12044, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17855, ChEBI:CHEBI:18035, ChEBI:CHEBI:28868; EC=3.1.1.79; Evidence=; Reaction=a monoacylglycerol + H2O = a fatty acid + glycerol + H(+); Xref=Rhea:RHEA:15245, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17408, ChEBI:CHEBI:17754, ChEBI:CHEBI:28868; EC=3.1.1.79; Evidence=; Reaction=Hydrolyzes glycerol monoesters of long-chain fatty acids.; EC=3.1.1.23; Evidence=; Reaction=cholesteryl (9Z-octadecenoate) + H2O = (9Z)-octadecenoate + cholesterol + H(+); Xref=Rhea:RHEA:33875, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16113, ChEBI:CHEBI:30823, ChEBI:CHEBI:46898; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:33876; Evidence=; Reaction=all-trans-retinyl hexadecanoate + H2O = all-trans-retinol + H(+) + hexadecanoate; Xref=Rhea:RHEA:13933, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17336, ChEBI:CHEBI:17616; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:13934; Evidence=; Reaction=1,2-di-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + (9Z-octadecenoyl)-glycerol + H(+); Xref=Rhea:RHEA:38455, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:52323, ChEBI:CHEBI:75937; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38456; Evidence=; Reaction=2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + glycerol + H(+); Xref=Rhea:RHEA:26132, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:32395, ChEBI:CHEBI:52392; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:26133; Evidence=; Reaction=1-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + glycerol + H(+); Xref=Rhea:RHEA:38487, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30823, ChEBI:CHEBI:75342; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38488; Evidence=; Reaction=2-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + glycerol + H(+); Xref=Rhea:RHEA:38491, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30823, ChEBI:CHEBI:73990; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38492; Evidence=; Reaction=1-O-hexadecyl-2-acetyl-sn-glycerol + H2O = 1-O-hexadecyl-sn- glycerol + acetate + H(+); Xref=Rhea:RHEA:38563, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:34115, ChEBI:CHEBI:75936; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38564; Evidence=; Reaction=1,2-di-(9Z-octadecenoyl)-sn-glycerol + H2O = (9Z)- octadecenoate + (9Z-octadecenoyl)-glycerol + H(+); Xref=Rhea:RHEA:39935, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:52333, ChEBI:CHEBI:75937; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39936; Evidence=; Reaction=1,3-di-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + (9Z-octadecenoyl)-glycerol + H(+); Xref=Rhea:RHEA:39939, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:75735, ChEBI:CHEBI:75937; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39940; Evidence=; Reaction=(9Z)-octadecenoate + 1,2-di-(9Z-octadecenoyl)-glycerol + H(+) = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O; Xref=Rhea:RHEA:38379, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:52323, ChEBI:CHEBI:53753; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:38381; Evidence=; Reaction=2,3-di-(9Z)-octadecenoyl-sn-glycerol + H2O = (9Z)- octadecenoate + 2-(9Z-octadecenoyl)-glycerol + H(+); Xref=Rhea:RHEA:38383, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:73990, ChEBI:CHEBI:75824; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38384; Evidence=; Reaction=1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O = (9Z)- octadecenoate + di-(9Z)-octadecenoylglycerol + H(+); Xref=Rhea:RHEA:38575, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:53753, ChEBI:CHEBI:75945; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38576; Evidence=; Reaction=1,2-di-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + 2-(9Z-octadecenoyl)-glycerol + H(+); Xref=Rhea:RHEA:38659, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:52323, ChEBI:CHEBI:73990; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38660; Evidence=; Kinetic parameters: KM=0.25 uM for 1-(9Z-octadecenoyl)-glycerol ; KM=0.26 uM for 2-(9Z-octadecenoyl)-glycerol ; KM=0.27 uM for 2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol ; Glycerolipid metabolism; triacylglycerol degradation. Monomer and homodimer (By similarity). Interacts with CAVIN1 in the adipocyte cytoplasm (By similarity). Interacts with PLIN5 (PubMed:19717842). Cell membrane Membrane, caveola Cytoplasm, cytosol Lipid droplet Note=Found in the high-density caveolae (By similarity). Translocates to the cytoplasm from the caveolae upon insulin stimulation (By similarity). Phosphorylation by AMPK reduces its translocation towards the lipid droplets. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P54310-1; Sequence=Displayed; Name=2; IsoId=P54310-2; Sequence=VSP_053335; Phosphorylation by AMPK reduces its translocation towards the lipid droplets. Total acylglycerol levels are unaltered whereas diacylglycerol concentrations are drastically increased in white adipose tissue of knockout mice when compared to wild-type littermates. Belongs to the 'GDXG' lipolytic enzyme family. triglyceride lipase activity protein binding extracellular space nucleus cytoplasm mitochondrion lipid particle cytosol plasma membrane caveola transcription initiation from RNA polymerase I promoter termination of RNA polymerase I transcription lipid metabolic process steroid metabolic process cholesterol metabolic process membrane lipid catabolic process lipase activity hydrolase activity hydrolase activity, acting on ester bonds serine hydrolase activity triglyceride catabolic process protein kinase binding hormone-sensitive lipase activity rRNA primary transcript binding long-chain fatty acid catabolic process diacylglycerol catabolic process acylglycerol lipase activity uc009fsr.1 uc009fsr.2 uc009fsr.3 
ENSMUST00000003238.14 Foxj2 ENSMUST00000003238.14 forkhead box J2 (from RefSeq NM_021899.3) ENSMUST00000003238.1 ENSMUST00000003238.10 ENSMUST00000003238.11 ENSMUST00000003238.12 ENSMUST00000003238.13 ENSMUST00000003238.2 ENSMUST00000003238.3 ENSMUST00000003238.4 ENSMUST00000003238.5 ENSMUST00000003238.6 ENSMUST00000003238.7 ENSMUST00000003238.8 ENSMUST00000003238.9 FOXJ2_MOUSE Fhx NM_021899 Q9ES18 uc012esh.1 uc012esh.2 uc012esh.3 Transcriptional activator. Able to bind to two different type of DNA binding sites (By similarity). Plays an important role in spermatogenesis, especially in spermatocyte meiosis (PubMed:11025217, PubMed:15489334). Nucleus Spermtaocytes (at protein level). Expressed in adult brain, heart skeletal muscle, lung, kidney and gonads. Liver, small intestine, and spleen also show expression but at lower levels. In the testis, expressed from pachytene spermatocytes to round spermatids, but not in spermatogonia. In addition to the germ lineage, also expressed in Sertoli cells of the testis. In the ovary, only granulosa cells of the follicles show expression. In the brain, expressed in the piriform cortex, hippocampus, habenula and in the granula cell layer in the cerebellum. Expressed both maternally and zygotically. Zygotic expression first begins in 8-cell stage embryos, with expression increasing in blastocysts. In embryos, both cell layers of the blastocyst: the trophectoderm (TE) and the inner cell mass (ICM) show expression. Male germ-cell-specific conditional knockout results in complete male infertility and meiotic arrest in spermatocytes. Spermatocytes show aberrant chromosomal synapsis and DNA double-strand breaks (DSB) repair and significantly reduced expression of DSB repair-associated genes and meiotic arrest-related genes. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding fibrillar center DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated negative regulation of angiogenesis identical protein binding sequence-specific DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of vascular smooth muscle cell proliferation uc012esh.1 uc012esh.2 uc012esh.3 
ENSMUST00000003268.11 Sh3gl1 ENSMUST00000003268.11 SH3-domain GRB2-like 1, transcript variant 1 (from RefSeq NM_013664.3) ENSMUST00000003268.1 ENSMUST00000003268.10 ENSMUST00000003268.2 ENSMUST00000003268.3 ENSMUST00000003268.4 ENSMUST00000003268.5 ENSMUST00000003268.6 ENSMUST00000003268.7 ENSMUST00000003268.8 ENSMUST00000003268.9 NM_013664 Q62419 SH3G1_MOUSE Sh3d2b uc008daq.1 uc008daq.2 uc008daq.3 uc008daq.4 Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity). Interacts with ARC, SYNJ1 and DNM1. Interacts with PDCD6IP. Interacts with BIN2 (By similarity). Q62419; P62862: Fau; NbExp=3; IntAct=EBI-642935, EBI-309546; Cytoplasm Early endosome membrane ; Peripheral membrane protein Cell projection, podosome Note=Associated with postsynaptic endosomes in hippocampal neurons. An N-terminal amphipathic helix, the BAR domain and a second amphipathic helix inserted into helix 1 of the BAR domain (N-BAR domain) induce membrane curvature and bind curved membranes. Belongs to the endophilin family. podosome protein binding cytoplasm endosome cytosol endocytosis protein C-terminus binding lipid binding membrane synaptic vesicle uncoating SH3 domain binding phosphatase binding cell junction beta-1 adrenergic receptor binding early endosome membrane identical protein binding cell projection ion channel binding synapse GTPase binding presynapse modulation of excitatory postsynaptic potential glutamatergic synapse postsynaptic density, intracellular component regulation of synaptic vesicle endocytosis positive regulation of synaptic vesicle endocytosis uc008daq.1 uc008daq.2 uc008daq.3 uc008daq.4 
ENSMUST00000003274.8 Ebi3 ENSMUST00000003274.8 Epstein-Barr virus induced gene 3 (from RefSeq NM_015766.2) ENSMUST00000003274.1 ENSMUST00000003274.2 ENSMUST00000003274.3 ENSMUST00000003274.4 ENSMUST00000003274.5 ENSMUST00000003274.6 ENSMUST00000003274.7 Ebi3 NM_015766 Q3U1K3 Q3U1K3_MOUSE uc008daj.1 uc008daj.2 uc008daj.3 cytokine receptor activity membrane cytokine-mediated signaling pathway uc008daj.1 uc008daj.2 uc008daj.3 
ENSMUST00000003284.16 Irf3 ENSMUST00000003284.16 interferon regulatory factor 3, transcript variant 2 (from RefSeq NR_045611.1) ENSMUST00000003284.1 ENSMUST00000003284.10 ENSMUST00000003284.11 ENSMUST00000003284.12 ENSMUST00000003284.13 ENSMUST00000003284.14 ENSMUST00000003284.15 ENSMUST00000003284.2 ENSMUST00000003284.3 ENSMUST00000003284.4 ENSMUST00000003284.5 ENSMUST00000003284.6 ENSMUST00000003284.7 ENSMUST00000003284.8 ENSMUST00000003284.9 Irf3 NR_045611 Q3U9K6 Q3U9K6_MOUSE uc009gsm.1 uc009gsm.2 uc009gsm.3 negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding transcription factor activity, sequence-specific DNA binding nucleus cytoplasm cytosol regulation of transcription, DNA-templated protein domain specific binding positive regulation of type I interferon production TRIF-dependent toll-like receptor signaling pathway identical protein binding protein homodimerization activity positive regulation of I-kappaB kinase/NF-kappaB signaling sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of transcription from RNA polymerase II promoter positive regulation of cytokine secretion cellular response to exogenous dsRNA uc009gsm.1 uc009gsm.2 uc009gsm.3 
ENSMUST00000003290.12 Bcl2l12 ENSMUST00000003290.12 BCL2 like 12, transcript variant 3 (from RefSeq NM_029410.4) Bcl2l12 ENSMUST00000003290.1 ENSMUST00000003290.10 ENSMUST00000003290.11 ENSMUST00000003290.2 ENSMUST00000003290.3 ENSMUST00000003290.4 ENSMUST00000003290.5 ENSMUST00000003290.6 ENSMUST00000003290.7 ENSMUST00000003290.8 ENSMUST00000003290.9 NM_029410 Q9D3J3 Q9D3J3_MOUSE uc009gsk.1 uc009gsk.2 uc009gsk.3 uc009gsk.4 Belongs to the Bcl-2 family. p53 binding nucleus apoptotic process regulation of apoptotic process positive regulation of transcription from RNA polymerase II promoter negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator inhibition of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of cellular senescence uc009gsk.1 uc009gsk.2 uc009gsk.3 uc009gsk.4 
ENSMUST00000003310.7 Ranbp2 ENSMUST00000003310.7 RAN binding protein 2 (from RefSeq NM_011240.3) E9QM01 ENSMUST00000003310.1 ENSMUST00000003310.2 ENSMUST00000003310.3 ENSMUST00000003310.4 ENSMUST00000003310.5 ENSMUST00000003310.6 NM_011240 Q61992 Q8C9K9 Q9ERU9 RBP2_MOUSE uc007fdd.1 uc007fdd.2 uc007fdd.3 uc007fdd.4 E3 SUMO-protein ligase which facilitates SUMO1 and SUMO2 conjugation by UBE2I. Involved in transport factor (Ran-GTP, karyopherin)-mediated protein import via the F-G repeat-containing domain which acts as a docking site for substrates. Binds single- stranded RNA (in vitro). May bind DNA. Component of the nuclear export pathway. Specific docking site for the nuclear export factor exportin- 1. Inhibits EIF4E-dependent mRNA export. Sumoylates PML at 'Lys-490' which is essential for the proper assembly of PML-NB. Recruits BICD2 to the nuclear envelope and cytoplasmic stacks of nuclear pore complex known as annulate lamellae during G2 phase of cell cycle. Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity. Protein modification; protein sumoylation. Part of the nuclear pore complex (By similarity). Forms a complex with NXT1, NXF1 and RANGAP1 (By similarity). Forms a tight complex with RANBP1 and UBE2I (By similarity). Interacts with SUMO1 but not SUMO2 (By similarity). Interacts with sumoylated RANGAP1 (By similarity). Interacts with CDCA8 (By similarity). Interacts with PML (By similarity). Interacts with BICD2 (By similarity). Interacts with PRKN (PubMed:16332688). Interacts with MCM3AP (By similarity). Interacts with COX11 (By similarity). Interacts with synaptic plasticity regulator PANTS (PubMed:35771867). Q9ERU9; Q9WVS6: Prkn; NbExp=2; IntAct=EBI-643756, EBI-973635; Nucleus Nucleus membrane Nucleus, nuclear pore complex Nucleus envelope Note=Detected in diffuse and discrete intranuclear foci. Cytoplasmic filaments. Contains FG repeats. FG repeats are interaction sites for karyopherins (importins, exportins) and form probably an affinity gradient, guiding the transport proteins unidirectionally with their cargo through the NPC. FG repeat regions are highly flexible and lack ordered secondary structure. The overall conservation of FG repeats regarding exact sequence, spacing, and repeat unit length is limited. The PPIase cyclophilin-type domain has high structural similarity with PPIA, but has extremely low and barely detectable proline isomerase activity (in vitro) (By similarity). Only about half of the residues that surround the PPIA active site cleft are conserved. Polyubiquitinated by PRKN, which leads to proteasomal degradation. The inner channel of the NPC has a different redox environment from the cytoplasm and allows the formation of interchain disulfide bonds between some nucleoporins, the significant increase of these linkages upon oxidative stress reduces the permeability of the NPC. Belongs to the RanBP2 E3 ligase family. Despite the presence of a PPIase cyclophilin-type domain, it has probably no peptidyl-prolyl cis-trans isomerase activity. protein peptidyl-prolyl isomerization response to amphetamine RNA binding peptidyl-prolyl cis-trans isomerase activity protein binding nucleus nuclear envelope annulate lamellae nuclear pore cytoplasm mitochondrion regulation of gluconeogenesis protein folding NLS-bearing protein import into nucleus Ran GTPase binding protein transport membrane transferase activity protein sumoylation SUMO transferase activity nuclear membrane positive regulation of glucokinase activity nuclear inclusion body positive regulation of GTPase activity nuclear pore cytoplasmic filaments nuclear pore nuclear basket macromolecular complex binding metal ion binding intracellular transport mRNA transport centrosome localization cytoplasmic periphery of the nuclear pore complex GTPase activator activity uc007fdd.1 uc007fdd.2 uc007fdd.3 uc007fdd.4 
ENSMUST00000003312.5 Edar ENSMUST00000003312.5 ectodysplasin-A receptor (from RefSeq NM_010100.3) Dl EDAR_MOUSE ENSMUST00000003312.1 ENSMUST00000003312.2 ENSMUST00000003312.3 ENSMUST00000003312.4 NM_010100 Q9DC43 Q9R187 uc007fdh.1 uc007fdh.2 uc007fdh.3 uc007fdh.4 Receptor for EDA isoform TAA, but not for EDA isoform TA-2 (By similarity). May mediate the activation of NF-kappa-B and JNK. May promote caspase-independent cell death. Binds to EDARADD. Associates with TRAF1, TRAF2, TRAF3 and NIK. Membrane ; Single-pass type I membrane protein Transcripts are not detectable in the branchial arch epithelium before morphological tooth formation (10 dpc), but are highly expressed during the initiation of tooth development (11 dpc). Starting 12 dpc, expression is high and limited to the budding cells, and remains high in the fully developed enamel knot at 14 dpc, whereas all other dental cells were completely negative. During 15 dpc the enamel knot disappears largely through apoptosis, and no transcripts were detected in the tooth germs of newborns. In skin, uniformly distributed in the basal cells of the epidermis before follicle initiation. Expression becomes focally elevated before placodes become distinguishable. By 17 dpc transcripts are almost exclusively confined to maturing follicles and the recently initiated placodes. By activin A in 12 dpc dental epithelium. Note=Defects in Edar are a cause of the downless phenotype in mice (the equivalent of anhidrotic ectodermal dysplasia in humans). The disease is characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. Sequence=BAB23385.1; Type=Erroneous initiation; Evidence=; hair follicle development transmembrane signaling receptor activity plasma membrane apoptotic process multicellular organism development positive regulation of gene expression membrane integral component of membrane cell differentiation signaling receptor activity odontogenesis of dentin-containing tooth positive regulation of I-kappaB kinase/NF-kappaB signaling pigmentation apical part of cell positive regulation of JNK cascade salivary gland cavitation positive regulation of NIK/NF-kappaB signaling uc007fdh.1 uc007fdh.2 uc007fdh.3 uc007fdh.4 
ENSMUST00000003313.10 Grk5 ENSMUST00000003313.10 G protein-coupled receptor kinase 5 (from RefSeq NM_018869.3) ENSMUST00000003313.1 ENSMUST00000003313.2 ENSMUST00000003313.3 ENSMUST00000003313.4 ENSMUST00000003313.5 ENSMUST00000003313.6 ENSMUST00000003313.7 ENSMUST00000003313.8 ENSMUST00000003313.9 GRK5_MOUSE Gprk5 NM_018869 O70292 O70297 Q8VEB1 uc008ice.1 uc008ice.2 uc008ice.3 uc008ice.4 uc008ice.5 uc008ice.6 Serine/threonine kinase that phosphorylates preferentially the activated forms of a variety of G-protein-coupled receptors (GPCRs). Such receptor phosphorylation initiates beta-arrestin-mediated receptor desensitization, internalization, and signaling events leading to their down-regulation. Phosphorylates a variety of GPCRs, including adrenergic receptors, muscarinic acetylcholine receptors (more specifically Gi-coupled M2/M4 subtypes), dopamine receptors and opioid receptors. In addition to GPCRs, also phosphorylates various substrates: Hsc70-interacting protein/ST13, TP53/p53, HDAC5, and arrestin-1/ARRB1. Phosphorylation of ARRB1 by GRK5 inhibits G-protein independent MAPK1/MAPK3 signaling downstream of 5HT4-receptors. Phosphorylation of HDAC5, a repressor of myocyte enhancer factor 2 (MEF2) leading to nuclear export of HDAC5 and allowing MEF2-mediated transcription. Phosphorylation of TP53/p53, a crucial tumor suppressor, inhibits TP53/p53-mediated apoptosis. Phosphorylation of ST13 regulates internalization of the chemokine receptor. Phosphorylates rhodopsin (RHO) (in vitro) and a non G-protein-coupled receptor, LRP6 during Wnt signaling (in vitro). Reaction=[G-protein-coupled receptor] + ATP = [G-protein-coupled receptor]-phosphate + ADP + H(+); Xref=Rhea:RHEA:12008, Rhea:RHEA- COMP:11260, Rhea:RHEA-COMP:11261, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43176, ChEBI:CHEBI:68546, ChEBI:CHEBI:456216; EC=2.7.11.16; Inhibited by calmodulin with an IC(50) of 50 nM. Calmodulin inhibits GRK5 association with receptor and phospholipid (By similarity). Interacts with ST13 (via the C-terminus 303-319 AA) (By similarity). Interacts with TP53/p53 (By similarity). Interacts with HTR4 (via C-terminus 330-346 AA); this interaction is promoted by 5-HT (serotonin) (PubMed:18711143). Interacts with HDAC5 (By similarity). Interacts with GIT1 (By similarity). Q8VEB1; Q9UQL6: HDAC5; Xeno; NbExp=2; IntAct=EBI-8367081, EBI-715576; Cytoplasm Nucleus. Cell membrane; Peripheral membrane protein. Note=Predominantly localized at the plasma membrane, targeted to the cell surface through the interaction with phospholipids. Nucleus localization is regulated in a GPCR and Ca(2+)/calmodulin-dependent fashion (By similarity). Autophosphorylated. Autophosphorylation may play a critical role in the regulation of GRK5 kinase activity. No obvious phenotype due to the redundancy of GRK subtypes in the regulation of GPCR signaling. Deficient mice are viable and showed no anatomic or behavioral abnormalities, only a slight decrease in body temperature. However deficient mice shown altered central and lung M2 muscarinic receptor regulation, with normal heart M2 receptor regulation. GRK5 deficiency leads to a reduced hippocampal acetylcholine release and cholinergic hypofunction by selective impairment of desensitization of presynaptic M2/M4 autoreceptors and promotes amyloid-beta accumulation. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. GPRK subfamily. nucleotide binding desensitization of G-protein coupled receptor protein signaling pathway protein kinase activity protein serine/threonine kinase activity G-protein coupled receptor kinase activity protein binding ATP binding nucleus cytoplasm cytosol plasma membrane protein phosphorylation apoptotic process signal transduction tachykinin receptor signaling pathway regulation of G-protein coupled receptor protein signaling pathway positive regulation of cell proliferation lipid binding membrane Wnt signaling pathway kinase activity phosphorylation nuclear speck transferase activity nuclear membrane negative regulation of apoptotic process fat cell differentiation protein autophosphorylation beta-adrenergic receptor kinase activity regulation of cell cycle uc008ice.1 uc008ice.2 uc008ice.3 uc008ice.4 uc008ice.5 uc008ice.6 
ENSMUST00000003318.13 Dvl3 ENSMUST00000003318.13 dishevelled segment polarity protein 3, transcript variant 1 (from RefSeq NM_007889.4) DVL3_MOUSE ENSMUST00000003318.1 ENSMUST00000003318.10 ENSMUST00000003318.11 ENSMUST00000003318.12 ENSMUST00000003318.2 ENSMUST00000003318.3 ENSMUST00000003318.4 ENSMUST00000003318.5 ENSMUST00000003318.6 ENSMUST00000003318.7 ENSMUST00000003318.8 ENSMUST00000003318.9 G5E820 NM_007889 Q61062 uc007ypw.1 uc007ypw.2 uc007ypw.3 Involved in the signal transduction pathway mediated by multiple Wnt genes. Interacts (via the PDZ domain) with the C-terminal regions of VANGL1 and VANGL2. Interacts (via the region containing both the PDZ and DEP domains) with LRRFIP2; the DIX domain may inhibit this interaction. Interacts with CYLD. Interacts with CEP164 and DAB2. Interacts with DCDC2. Interacts with FOXK1 and FOXK2 (By similarity). Interacts with DAAM2 (PubMed:22227309). Q61062; O35625: Axin1; NbExp=2; IntAct=EBI-1538450, EBI-2365912; Q61062; Q60838: Dvl2; NbExp=3; IntAct=EBI-1538450, EBI-641940; Q61062; Q80Z96: Vangl1; NbExp=2; IntAct=EBI-1538450, EBI-1750708; Q61062; Q91ZD4: Vangl2; NbExp=2; IntAct=EBI-1538450, EBI-1750744; Cytoplasm Ubiquitous. Ubiquitinated. Deubiquitinated by CYLD, which acts on 'Lys-63'- linked ubiquitin chains (By similarity). Phosphorylated by CSNK1D. Arginine methylation may function as a switch in regulation of function in Wnt signaling. Belongs to the DSH family. nuclear chromatin positive regulation of protein phosphorylation protease binding heart morphogenesis outflow tract septum morphogenesis receptor binding frizzled binding protein binding cytoplasm cytosol multicellular organism development beta-catenin binding Wnt signaling pathway protein binding, bridging intracellular signal transduction non-canonical Wnt signaling pathway non-canonical Wnt signaling pathway via JNK cascade positive regulation of JUN kinase activity positive regulation of GTPase activity synapse positive regulation of transcription, DNA-templated protein heterodimerization activity Rac GTPase binding protein stabilization canonical Wnt signaling pathway Wnt signaling pathway, planar cell polarity pathway cochlea morphogenesis planar cell polarity pathway involved in neural tube closure glutamatergic synapse regulation of cellular protein localization midbrain dopaminergic neuron differentiation Wnt signalosome uc007ypw.1 uc007ypw.2 uc007ypw.3 
ENSMUST00000003319.6 Abcf3 ENSMUST00000003319.6 ATP-binding cassette, sub-family F member 3, transcript variant 2 (from RefSeq NR_190180.1) ABCF3_MOUSE ENSMUST00000003319.1 ENSMUST00000003319.2 ENSMUST00000003319.3 ENSMUST00000003319.4 ENSMUST00000003319.5 NR_190180 Q8K268 Q9JL49 uc007ypz.1 uc007ypz.2 uc007ypz.3 Displays an antiviral effect against flaviviruses such as west Nile virus (WNV) in the presence of OAS1B. Belongs to the ABC transporter superfamily. ABCF family. EF3 subfamily. Lacks transmembrane domains and is probably not involved in transport. Sequence=AAF31421.1; Type=Frameshift; Evidence=; nucleotide binding protein binding ATP binding ATPase activity defense response to virus uc007ypz.1 uc007ypz.2 uc007ypz.3 
ENSMUST00000003320.14 Eif2b5 ENSMUST00000003320.14 eukaryotic translation initiation factor 2B, subunit 5 epsilon, transcript variant 8 (from RefSeq NR_184410.1) EI2BE_MOUSE ENSMUST00000003320.1 ENSMUST00000003320.10 ENSMUST00000003320.11 ENSMUST00000003320.12 ENSMUST00000003320.13 ENSMUST00000003320.2 ENSMUST00000003320.3 ENSMUST00000003320.4 ENSMUST00000003320.5 ENSMUST00000003320.6 ENSMUST00000003320.7 ENSMUST00000003320.8 ENSMUST00000003320.9 NR_184410 Q3TU39 Q8CHW4 uc007ypu.1 uc007ypu.2 uc007ypu.3 uc007ypu.4 Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit. Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed. Activated by the chemical integrated stress response (ISR) inhibitor ISRIB which stimulates guanine nucleotide exchange factor activity for both phosphorylated and unphosphorylated eIF2. Component of the translation initiation factor 2B (eIF2B) complex which is a heterodecamer of two sets of five different subunits: alpha, beta, gamma, delta and epsilon. Subunits alpha, beta and delta comprise a regulatory subcomplex and subunits epsilon and gamma comprise a catalytic subcomplex. Within the complex, the hexameric regulatory complex resides at the center, with the two heterodimeric catalytic subcomplexes bound on opposite sides. Cytoplasm, cytosol Phosphorylated at Ser-540 by DYRK2; this is required for subsequent phosphorylation by GSK3B. Phosphorylated on serine and threonine residues by GSK3B; phosphorylation inhibits its function (By similarity). Polyubiquitinated, probably by NEDD4. Belongs to the eIF-2B gamma/epsilon subunits family. ovarian follicle development translation initiation factor activity guanyl-nucleotide exchange factor activity nucleus cytoplasm cytosol eukaryotic translation initiation factor 2B complex translation translational initiation aging response to heat response to glucose response to lithium ion astrocyte development oligodendrocyte development hippocampus development translation initiation factor binding response to endoplasmic reticulum stress myelination positive regulation of apoptotic process response to peptide hormone positive regulation of translation positive regulation of translational initiation astrocyte differentiation T cell receptor signaling pathway uc007ypu.1 uc007ypu.2 uc007ypu.3 uc007ypu.4 
ENSMUST00000003360.10 Car11 ENSMUST00000003360.10 carbonic anhydrase 11, transcript variant 4 (from RefSeq NR_177999.1) Car11 ENSMUST00000003360.1 ENSMUST00000003360.2 ENSMUST00000003360.3 ENSMUST00000003360.4 ENSMUST00000003360.5 ENSMUST00000003360.6 ENSMUST00000003360.7 ENSMUST00000003360.8 ENSMUST00000003360.9 NR_177999 Q541E9 Q541E9_MOUSE uc009gwr.1 uc009gwr.2 uc009gwr.3 uc009gwr.4 Does not have a catalytic activity. Secreted Belongs to the alpha-carbonic anhydrase family. carbonate dehydratase activity zinc ion binding uc009gwr.1 uc009gwr.2 uc009gwr.3 uc009gwr.4 
ENSMUST00000003369.10 Plag1 ENSMUST00000003369.10 pleiomorphic adenoma gene 1 (from RefSeq NM_019969.3) B1AXC4 ENSMUST00000003369.1 ENSMUST00000003369.2 ENSMUST00000003369.3 ENSMUST00000003369.4 ENSMUST00000003369.5 ENSMUST00000003369.6 ENSMUST00000003369.7 ENSMUST00000003369.8 ENSMUST00000003369.9 NM_019969 PLAG1_MOUSE Q3UXC0 Q9QYE0 uc008rwp.1 uc008rwp.2 uc008rwp.3 uc008rwp.4 Transcription factor whose activation results in up- regulation of target genes, such as IGFII, leading to uncontrolled cell proliferation: when overexpressed in cultured cells, higher proliferation rate and transformation are observed. Other target genes such as CRLF1, CRABP2, CRIP2, PIGF are strongly induced in cells with PLAG1 induction. Proto-oncogene whose ectopic expression can trigger the development of pleomorphic adenomas of the salivary gland and lipoblastomas. Cooperates with CBFB-MYH11. Interacts with KPNA2, which escorts protein to the nucleus via interaction with nuclear localization signal. Interacts with E3 SUMO- protein ligase PIAS1, PIAS2 and PIAS4 (By similarity). Nucleus. Note=Strong nucleolar localization when sumoylation is inhibited. Expressed in heart, spleen, lung, kidney, brain, testis and epididymis but not in salivary glands. High fetal expression with a strong decline after birth. Expressed at 9.5 dpc and 10.5 dpc in nervous system with highest level in telencephalon, diencephalon, and midbrain, as well as regionalized expression in the neural tube, which is characteristic of genes involved in the specification of neuronal fates. C2H2-type zinc fingers 3 interacts with DNA-binding site G- clusterinc fingers. C2H2-type zinc fingers 6 and 7 interact with DNA- binding site core sequence (By similarity). Sumoylated with SUMO1; which inhibits transcriptional activity, but does not affect nuclear localization. Blockers of sumoylation pathway such as SENP3 and inactive UBE2I increases transcriptional capacity. Sumoylation is increased in the presence of PIAS1 (By similarity). Acetylated by lysine acetyltransferase EP300; which activates transcriptional capacity. Lysine residues that are sumoylated also seem to be target for acetylation (By similarity). Mice exhibit growth retardation with lower birth weight and disproportionally small seminal vesicles and ventral prostate as well as decreased fertility in both male and female. However, IGFII expression is normal in embryos. Mice overexpressing Plag1 develop normally with high Plag1 transgene expression in salivary glands, spleen and weak mammary gland detection. They develop salivary gland tumors with major pathological features of human pleimorphic adenomas at the age of 1-5 months. Mice with Plag1 overexpression targeted to salivary and mammary gland develop multifocal salivary gland tumors with pathological features of human pleimorphic adenomas at the age of 5 weeks, as well as mammary gland tumors at the age of 1 year. Plag1 overexpression in salivary gland are accompanied by increased IGFII expression. Besides features characteristic of benign pleimorphic adenomas, malignant characteristics are also observed in salivary gland tumors as well as metastasis to the lungs, reinforcing the tumorigenic role of Plag1. Neonate mice carrying a human myeloid leukemia translocation-associated fusion gene CBFB-MYH11, injected with a retrovirus (4070A), develop the pathology within 2-5 months due to few viral insertions in some genes, such as PLAG1. Insertions near the transcription start site of PLAG1 are predominant in the related tumors and probably participate in the transformation process. Plag1 is one candidate gene that can cooperate with CBFB-MYH11 for leukemogenesis in this mouse model. Belongs to the krueppel C2H2-type zinc-finger protein family. Sequence=BAE22643.1; Type=Erroneous initiation; Evidence=; RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus transcription, DNA-templated regulation of transcription, DNA-templated positive regulation of gene expression negative regulation of gene expression nuclear speck gland morphogenesis multicellular organism growth organ growth positive regulation of transcription from RNA polymerase II promoter metal ion binding positive regulation of glial cell proliferation prostate gland growth uc008rwp.1 uc008rwp.2 uc008rwp.3 uc008rwp.4 
ENSMUST00000003386.7 Mrpl4 ENSMUST00000003386.7 mitochondrial ribosomal protein L4, transcript variant 2 (from RefSeq NM_023167.2) ENSMUST00000003386.1 ENSMUST00000003386.2 ENSMUST00000003386.3 ENSMUST00000003386.4 ENSMUST00000003386.5 ENSMUST00000003386.6 MNCb-3848 NM_023167 Q811L8 Q8JZU9 Q9DCU6 Q9JJB3 RM04_MOUSE uc009ojv.1 uc009ojv.2 uc009ojv.3 uc009ojv.4 Component of the mitochondrial ribosome large subunit (39S) which comprises a 16S rRNA and about 50 distinct proteins. Interacts with MIEF1 upstream open reading frame protein. Mitochondrion Belongs to the universal ribosomal protein uL4 family. Sequence=AAH37064.1; Type=Erroneous initiation; Evidence=; Sequence=BAA95082.1; Type=Frameshift; Evidence=; structural constituent of ribosome mitochondrion mitochondrial large ribosomal subunit ribosome translation uc009ojv.1 uc009ojv.2 uc009ojv.3 uc009ojv.4 
ENSMUST00000003395.10 Pde4a ENSMUST00000003395.10 phosphodiesterase 4A, cAMP specific, transcript variant 1 (from RefSeq NM_019798.6) ENSMUST00000003395.1 ENSMUST00000003395.2 ENSMUST00000003395.3 ENSMUST00000003395.4 ENSMUST00000003395.5 ENSMUST00000003395.6 ENSMUST00000003395.7 ENSMUST00000003395.8 ENSMUST00000003395.9 NM_019798 O89084 PDE4A_MOUSE Q8R078 Q9JHQ4 Q9QX48 Q9QX49 Q9QXI8 uc009okm.1 uc009okm.2 uc009okm.3 uc009okm.4 Hydrolyzes the second messenger 3',5'-cyclic AMP (cAMP), which is a key regulator of many important physiological processes. [Isoform 2]: Efficiently hydrolyzes cAMP. [Isoform 2]: Reaction=3',5'-cyclic AMP + H2O = AMP + H(+); Xref=Rhea:RHEA:25277, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:58165, ChEBI:CHEBI:456215; EC=3.1.4.53; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:25278; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 divalent metal cations per subunit. Site 1 may preferentially bind zinc ions. ; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 divalent metal cations per subunit (By similarity). Site 2 has a preference for magnesium and/or manganese ions (By similarity). ; [Isoform 2]: Inhibited by rolipram and diazepam. Kinetic parameters: KM=9.2 uM for cAMP ; Vmax=37.9 nmol/min/mg enzyme toward cAMP ; Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1. Interacts with LYN (via SH3 domain). Interacts with ARRB2. Cytoplasm, cytosol Membrane; Peripheral membrane protein Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist.; Name=1; IsoId=O89084-1; Sequence=Displayed; Name=2; Synonyms=PDE4A1 ; IsoId=O89084-2; Sequence=VSP_004563, VSP_004564; Name=3; IsoId=O89084-3; Sequence=VSP_004562; Proteolytically cleaved by CASP3. Belongs to the cyclic nucleotide phosphodiesterase family. PDE4 subfamily. Sequence=AAH27224.2; Type=Erroneous initiation; Evidence=; 3',5'-cyclic-nucleotide phosphodiesterase activity 3',5'-cyclic-AMP phosphodiesterase activity nucleus nucleoplasm cytoplasm cytosol plasma membrane cAMP catabolic process signal transduction sensory perception of smell phosphoric diester hydrolase activity regulation of protein kinase A signaling membrane hydrolase activity cAMP binding cellular response to drug regulation of cAMP-mediated signaling metal ion binding perinuclear region of cytoplasm modulation of synaptic transmission uc009okm.1 uc009okm.2 uc009okm.3 uc009okm.4 
ENSMUST00000003436.12 Abhd17a ENSMUST00000003436.12 abhydrolase domain containing 17A (from RefSeq NM_145421.2) AB17A_MOUSE Abhd17a D10Bwg1364e ENSMUST00000003436.1 ENSMUST00000003436.10 ENSMUST00000003436.11 ENSMUST00000003436.2 ENSMUST00000003436.3 ENSMUST00000003436.4 ENSMUST00000003436.5 ENSMUST00000003436.6 ENSMUST00000003436.7 ENSMUST00000003436.8 ENSMUST00000003436.9 NM_145421 Q5DU54 Q99JW1 uc007gdv.1 uc007gdv.2 uc007gdv.3 uc007gdv.4 Hydrolyzes fatty acids from S-acylated cysteine residues in proteins. Has depalmitoylating activity towards NRAS. Has depalmitoylating activity towards DLG4/PSD95. May have depalmitoylating activity towars MAP6. Reaction=H2O + S-hexadecanoyl-L-cysteinyl-[protein] = H(+) + hexadecanoate + L-cysteinyl-[protein]; Xref=Rhea:RHEA:19233, Rhea:RHEA-COMP:10131, Rhea:RHEA-COMP:11032, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29950, ChEBI:CHEBI:74151; EC=3.1.2.22; Evidence=; Cell membrane ; Lipid-anchor ; Cytoplasmic side Endosome membrane ; Lipid-anchor ; Cytoplasmic side Cell projection, dendritic spine Postsynaptic density membrane Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99JW1-1; Sequence=Displayed; Name=2; IsoId=Q99JW1-2; Sequence=VSP_027272; Palmitoylated on cysteine residues located in a cysteine cluster at the N-terminus which promotes membrane localization. Palmitoylation is required for post-synaptic localization and for depalmitoylating activity towards DLG4/PSD95. Belongs to the AB hydrolase superfamily. ABHD17 family. Sequence=BAD90391.1; Type=Erroneous initiation; Evidence=; protein depalmitoylation endosome plasma membrane palmitoyl-(protein) hydrolase activity endosome membrane postsynaptic density membrane hydrolase activity protein palmitoylation cell junction cell projection dendritic spine synapse postsynaptic membrane recycling endosome membrane protein localization to membrane glutamatergic synapse anchored component of postsynaptic density membrane anchored component of postsynaptic recycling endosome membrane negative regulation of protein localization to microtubule positive regulation of protein localization to endosome uc007gdv.1 uc007gdv.2 uc007gdv.3 uc007gdv.4 
ENSMUST00000003438.11 Mob3a ENSMUST00000003438.11 MOB kinase activator 3A (from RefSeq NM_172457.2) ENSMUST00000003438.1 ENSMUST00000003438.10 ENSMUST00000003438.2 ENSMUST00000003438.3 ENSMUST00000003438.4 ENSMUST00000003438.5 ENSMUST00000003438.6 ENSMUST00000003438.7 ENSMUST00000003438.8 ENSMUST00000003438.9 MOB3A_MOUSE Mobkl2a NM_172457 Q3TBK2 Q8BSU7 uc007geh.1 uc007geh.2 uc007geh.3 May regulate the activity of kinases. Belongs to the MOB1/phocein family. molecular_function biological_process metal ion binding uc007geh.1 uc007geh.2 uc007geh.3 
ENSMUST00000003444.6 Ccdc65 ENSMUST00000003444.6 coiled-coil domain containing 65, transcript variant 1 (from RefSeq NM_153518.2) DRC2_MOUSE Drc2 ENSMUST00000003444.1 ENSMUST00000003444.2 ENSMUST00000003444.3 ENSMUST00000003444.4 ENSMUST00000003444.5 NM_153518 Q6PAP9 Q8VHI7 uc007xnl.1 uc007xnl.2 uc007xnl.3 uc007xnl.4 Component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes. Plays a critical role in the assembly of N- DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with DRC1 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules. Component of the nexin-dynein regulatory complex (N-DRC). Interacts with DRC1. Cytoplasm, cytoskeleton, flagellum basal body Cell projection, cilium, flagellum Cytoplasm, cytoskeleton, flagellum axoneme Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8VHI7-1; Sequence=Displayed; Name=2; IsoId=Q8VHI7-2; Sequence=VSP_024645; Belongs to the DRC2 family. regulation of cilium movement molecular_function cytoplasm cytoskeleton axonemal dynein complex cilium axoneme motile cilium cell projection cilium assembly cilium-dependent cell motility axonemal dynein complex assembly uc007xnl.1 uc007xnl.2 uc007xnl.3 uc007xnl.4 
ENSMUST00000003445.8 Fkbp11 ENSMUST00000003445.8 FK506 binding protein 11, transcript variant 1 (from RefSeq NM_024169.4) ENSMUST00000003445.1 ENSMUST00000003445.2 ENSMUST00000003445.3 ENSMUST00000003445.4 ENSMUST00000003445.5 ENSMUST00000003445.6 ENSMUST00000003445.7 FKB11_MOUSE NM_024169 Q9CRE4 Q9D1M7 uc007xnm.1 uc007xnm.2 uc007xnm.3 PPIases accelerate the folding of proteins during protein synthesis. Reaction=[protein]-peptidylproline (omega=180) = [protein]- peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA- COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8; Interacts with IFITM5. Membrane ; Single-pass membrane protein Belongs to the FKBP-type PPIase family. protein peptidyl-prolyl isomerization peptidyl-prolyl cis-trans isomerase activity membrane integral component of membrane isomerase activity uc007xnm.1 uc007xnm.2 uc007xnm.3 
ENSMUST00000003450.15 Ddx23 ENSMUST00000003450.15 DEAD box helicase 23 (from RefSeq NM_001080981.1) D3Z0M9 D3Z0M9_MOUSE Ddx23 ENSMUST00000003450.1 ENSMUST00000003450.10 ENSMUST00000003450.11 ENSMUST00000003450.12 ENSMUST00000003450.13 ENSMUST00000003450.14 ENSMUST00000003450.2 ENSMUST00000003450.3 ENSMUST00000003450.4 ENSMUST00000003450.5 ENSMUST00000003450.6 ENSMUST00000003450.7 ENSMUST00000003450.8 ENSMUST00000003450.9 NM_001080981 uc007xne.1 uc007xne.2 uc007xne.3 Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Evidence=; Nucleus Belongs to the DEAD box helicase family. DDX23/PRP28 subfamily. mRNA splicing, via spliceosome nucleic acid binding RNA binding ATP binding nucleus U5 snRNP nucleolus U4/U6 x U5 tri-snRNP complex catalytic step 2 spliceosome uc007xne.1 uc007xne.2 uc007xne.3 
ENSMUST00000003451.11 Rnd1 ENSMUST00000003451.11 Rho family GTPase 1 (from RefSeq NM_172612.3) ENSMUST00000003451.1 ENSMUST00000003451.10 ENSMUST00000003451.2 ENSMUST00000003451.3 ENSMUST00000003451.4 ENSMUST00000003451.5 ENSMUST00000003451.6 ENSMUST00000003451.7 ENSMUST00000003451.8 ENSMUST00000003451.9 NM_172612 Q3TSQ9 Q80ZR7 Q8BLR7 Q8BYF2 RND1_MOUSE Rho6 uc007xni.1 uc007xni.2 Lacks intrinsic GTPase activity. Has a low affinity for GDP, and constitutively binds GTP. Controls rearrangements of the actin cytoskeleton. Induces the Rac-dependent neuritic process formation in part by disruption of the cortical actin filaments. Causes the formation of many neuritic processes from the cell body with disruption of the cortical actin filaments (By similarity). Binds GRB7 and PLXNB1. Interacts with PLXNA2. Interacts with UBXD5 (By similarity). Cell membrane ; Lipid-anchor ; Cytoplasmic side Cytoplasm, cytoskeleton Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8BLR7-1; Sequence=Displayed; Name=2; IsoId=Q8BLR7-2; Sequence=VSP_012768; Name=3; IsoId=Q8BLR7-3; Sequence=VSP_012769; Belongs to the small GTPase superfamily. Rho family. nucleotide binding GTPase activity receptor binding GTP binding cytoplasm cytosol cytoskeleton plasma membrane adherens junction cell cortex actin filament organization negative regulation of cell adhesion small GTPase mediated signal transduction Rho protein signal transduction regulation of cell shape actin cytoskeleton membrane neuron remodeling protein kinase binding regulation of cell migration establishment or maintenance of actin cytoskeleton polarity cell division site regulation of actin cytoskeleton organization intracellular membrane-bounded organelle actin filament bundle assembly uc007xni.1 uc007xni.2 
ENSMUST00000003459.4 Myo1g ENSMUST00000003459.4 myosin IG (from RefSeq NM_178440.4) ENSMUST00000003459.1 ENSMUST00000003459.2 ENSMUST00000003459.3 MYO1G_MOUSE NM_178440 Q5SUA5 Q8BIT8 Q8BJ17 Q8BJ65 Q8R019 Q91ZI1 uc007hyt.1 uc007hyt.2 uc007hyt.3 Unconventional myosin required during immune response for detection of rare antigen-presenting cells by regulating T-cell migration (PubMed:25083865). Unconventional myosins are actin-based motor molecules with ATPase activity and serve in intracellular movements. Acts as a regulator of T-cell migration by generating membrane tension, enforcing cell-intrinsic meandering search, thereby enhancing detection of rare antigens during lymph-node surveillance, enabling pathogen eradication (PubMed:25083865). Also required in B- cells, where it regulates different membrane/cytoskeleton-dependent processes (PubMed:24310084). Involved in Fc-gamma receptor (Fc-gamma-R) phagocytosis (PubMed:23038771). Interacts with calmodulin; via its IQ motifs. Cell membrane eripheral membrane protein ll projection, phagocytic cup Note=Recruited to Fc-gamma receptor (Fc-gamma-R) phagocytic cup (PubMed:23038771). In T-cells, transiently accumulates in discrete areas at the plasma membrane of migrating cells or when membranes are deformed (PubMed:25083865). Specifically expressed in hematopoietic cells. Detected in adult tissues of the immune system such as thymus, lymph nodes and spleen, but not in brain, lung, heart, liver, small intestine, testis and kidney (at protein level). Highly expressed in T- lymphocytes; constitutes the most highly expressed class I myosin in naive CD4 and CD8 T-cells. Also present in B-lymphocytes. The myosin tail domain mediates binding to phosphatidylinositol-3,4-bisphosphate (PtdIns(3,4)P2), phosphatidylinositol-4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3) and binds to membranous compartments. It is required for recruitment to Fc-gamma receptor (Fc-gamma-R) phagocytic cups. T-cells display impaired migration patterns and are less efficient in scanning and evaluating antigen-presenting cells. T-cells show global reduction in membrane tension, while their homeostatic tissue distribution and responsiveness to T-cell receptor (TCR) engagement are unaffected. However, T-cells move faster and straighter, leading to defects in detection of antigen-presenting cells, specifically for detection of rare antigens. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. It is uncertain whether Met-1 or Met-7 is the initiator. Represents an unconventional myosin. This protein should not be confused with the conventional myosin-1 (MYH1). Sequence=BAC31139.1; Type=Frameshift; Evidence=; nucleotide binding phagocytic cup adaptive immune response immune system process T cell mediated immunity motor activity actin binding calmodulin binding ATP binding phosphatidylinositol-4,5-bisphosphate binding phosphatidylinositol-3,4,5-trisphosphate binding plasma membrane microvillus exocytosis phagocytosis lipid binding membrane myosin complex lamellipodium filopodium leading edge membrane cell-substrate adhesion Fc-gamma receptor signaling pathway involved in phagocytosis cell projection phosphatidylinositol-3,4-bisphosphate binding cell gliding uc007hyt.1 uc007hyt.2 uc007hyt.3 
ENSMUST00000003461.15 Ogdh ENSMUST00000003461.15 oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide), transcript variant 4 (from RefSeq NM_010956.4) ENSMUST00000003461.1 ENSMUST00000003461.10 ENSMUST00000003461.11 ENSMUST00000003461.12 ENSMUST00000003461.13 ENSMUST00000003461.14 ENSMUST00000003461.2 ENSMUST00000003461.3 ENSMUST00000003461.4 ENSMUST00000003461.5 ENSMUST00000003461.6 ENSMUST00000003461.7 ENSMUST00000003461.8 ENSMUST00000003461.9 Kiaa4192 NM_010956 ODO1_MOUSE Ogdh Q3UDM7 Q5DTI4 Q5SVX7 Q5SVX9 Q60597 Q6PFZ2 Q80Y57 Q8K0K7 Q8K2Z3 Q8R3M2 Q91WP2 uc007hyf.1 uc007hyf.2 uc007hyf.3 uc007hyf.4 2-oxoglutarate dehydrogenase (E1o) component of the 2- oxoglutarate dehydrogenase complex (OGDHC). Participates in the first step, rate limiting for the overall conversion of 2-oxoglutarate to succinyl-CoA and CO(2) catalyzed by the whole OGDHC. Catalyzes the irreversible decarboxylation of 2-oxoglutarate (alpha-ketoglutarate) via the thiamine diphosphate (ThDP) cofactor and subsequent transfer of the decarboxylated acyl intermediate on an oxidized dihydrolipoyl group that is covalently amidated to the E2 enzyme (dihydrolipoyllysine- residue succinyltransferase or DLST). Plays a key role in the Krebs (citric acid) cycle, which is a common pathway for oxidation of fuel molecules, including carbohydrates, fatty acids, and amino acids. Can catalyze the decarboxylation of 2-oxoadipate in vitro, but at a much lower rate than 2-oxoglutarate. Mainly active in the mitochondrion. A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A. Reaction=2-oxoglutarate + H(+) + N(6)-[(R)-lipoyl]-L-lysyl- [dihydrolipoyllysine-residue succinyltransferase] = CO2 + N(6)-[(R)- S(8)-succinyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue succinyltransferase]; Xref=Rhea:RHEA:12188, Rhea:RHEA-COMP:10483, Rhea:RHEA-COMP:10484, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:83099, ChEBI:CHEBI:83120; EC=1.2.4.2; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:12189; Evidence=; Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937; Evidence=; Calcium ions and ADP stimulate, whereas ATP and NADH reduce catalytic activity. The 2-oxoglutarate dehydrogenase complex is composed of OGDH (2-oxoglutarate dehydrogenase; E1), DLST (dihydrolipoamide succinyltransferase; E2), DLD (dihydrolipoamide dehydrogenase; E3) and the assembly factor KGD4 (PubMed:36854377). It contains multiple copies of the three enzymatic components (E1, E2 and E3). In the nucleus, the 2-oxoglutarate dehydrogenase complex associates with KAT2A. Interacts with ABHD11; this interaction maintains the functional lipoylation of the 2-oxoglutarate dehydrogenase complex (By similarity). Mitochondrion Nucleus Note=Mainly localizes in the mitochondrion. A small fraction localizes to the nucleus, where the 2- oxoglutarate dehydrogenase complex is required for histone succinylation. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q60597-1; Sequence=Displayed; Name=2; IsoId=Q60597-2; Sequence=VSP_024799; Name=3; IsoId=Q60597-3; Sequence=VSP_024801; Name=4; IsoId=Q60597-4; Sequence=VSP_024800; The mitochondrial 2-oxoglutarate and 2-oxoadipate dehydrogenase complexes (OGDHC and OADHC, respectively) share their E2 (DLST) and E3 (dihydrolipoyl dehydrogenase or DLD) components, but the E1 component is specific to each complex (E1o and E1a (DHTK1), respectively). Belongs to the alpha-ketoglutarate dehydrogenase family. Sequence=AAH31165.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAD90530.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; oxoglutarate dehydrogenase (succinyl-transferring) activity nucleus mitochondrion mitochondrial matrix generation of precursor metabolites and energy glycolytic process tricarboxylic acid cycle 2-oxoglutarate metabolic process succinyl-CoA metabolic process NADH metabolic process oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, disulfide as acceptor cerebellar cortex development striatum development hippocampus development thalamus development pyramidal neuron development tangential migration from the subventricular zone to the olfactory bulb thiamine pyrophosphate binding heat shock protein binding mitochondrial membrane oxoglutarate dehydrogenase (NAD+) activity oxoglutarate dehydrogenase complex metal ion binding chaperone binding oxidation-reduction process olfactory bulb mitral cell layer development uc007hyf.1 uc007hyf.2 uc007hyf.3 uc007hyf.4 
ENSMUST00000003468.10 Grik5 ENSMUST00000003468.10 glutamate receptor, ionotropic, kainate 5 (gamma 2), transcript variant 1 (from RefSeq NM_008168.3) ENSMUST00000003468.1 ENSMUST00000003468.2 ENSMUST00000003468.3 ENSMUST00000003468.4 ENSMUST00000003468.5 ENSMUST00000003468.6 ENSMUST00000003468.7 ENSMUST00000003468.8 ENSMUST00000003468.9 G5E822 GRIK5_MOUSE NM_008168 Q61626 uc009frh.1 uc009frh.2 uc009frh.3 uc009frh.4 uc009frh.5 Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. This receptor binds kainate > quisqualate = glutamate >> AMPA. Tetramer of two or more different subunits. Associates with GRIK1 (both edited and unedited versions), GRIK2, or GRIK3 to form functional channels. Homomeric associations do not produce any channel activity (By similarity). Cell membrane; Multi-pass membrane protein. Postsynaptic cell membrane; Multi-pass membrane protein. Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. GRIK5 subfamily. ionotropic glutamate receptor activity ion channel activity protein binding nucleus endoplasmic reticulum plasma membrane protein retention in ER lumen ion transport chemical synaptic transmission glutamate receptor activity ionotropic glutamate receptor complex postsynaptic density ligand-gated ion channel activity kainate selective glutamate receptor activity membrane integral component of membrane SH3 domain binding cell junction PDZ domain binding axon dendrite regulation of synaptic vesicle fusion to presynaptic membrane kainate selective glutamate receptor complex ion transmembrane transport ionotropic glutamate receptor signaling pathway synaptic transmission, glutamatergic signaling receptor activity regulation of membrane potential presynaptic membrane identical protein binding neuron projection neuronal cell body receptor clustering terminal bouton perikaryon positive regulation of neuron apoptotic process synapse postsynaptic membrane modulation of synaptic transmission establishment of localization in cell excitatory postsynaptic potential cellular response to glucose stimulus postsynaptic density membrane glutamatergic synapse integral component of postsynaptic membrane integral component of presynaptic membrane integral component of postsynaptic density membrane transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential uc009frh.1 uc009frh.2 uc009frh.3 uc009frh.4 uc009frh.5 
ENSMUST00000003469.8 Cd79a ENSMUST00000003469.8 CD79A antigen (immunoglobulin-associated alpha) (from RefSeq NM_007655.4) CD79A_MOUSE ENSMUST00000003469.1 ENSMUST00000003469.2 ENSMUST00000003469.3 ENSMUST00000003469.4 ENSMUST00000003469.5 ENSMUST00000003469.6 ENSMUST00000003469.7 Iga Mb-1 NM_007655 P11911 Q6GTY0 uc009fqt.1 uc009fqt.2 uc009fqt.3 Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B- cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK. Also interacts with and increases activity of some Src-family tyrosine kinases. Represses BCR signaling during development of immature B- cells. Heterodimer of alpha and beta chains; disulfide-linked. Part of the B-cell antigen receptor complex where the alpha/beta chain heterodimer is non-covalently associated with an antigen-specific membrane-bound surface immunoglobulin of two heavy chains and two light chains. Interacts through its phosphorylated ITAM domain with the SH2 domains of SYK which stimulates SYK autophosphorylation and activation. Also interacts, when phosphorylated on Tyr-204, with the SH2 domain of BLNK/SLP65, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK which is necessary for trafficking of the BCR to late endosomes. Interacts with Src-family tyrosine kinases including FYN and LYN, increasing their activity. Cell membrane ingle-pass type I membrane protein Note=Following antigen binding, the BCR has been shown to translocate from detergent-soluble regions of the cell membrane to lipid rafts although signal transduction through the complex can also occur outside lipid rafts. B-cells. The transmembrane helices of CD79A and CD79B chains and two IgM heavy chains assembly in a four-helix bundle structure that appears to be conserved among different BCR isotypes. Phosphorylated on tyrosine, serine and threonine residues upon B- cell activation. Phosphorylation of tyrosine residues by Src-family kinases, including LYN, is an early and essential feature of the BCR signaling cascade. The phosphorylated tyrosines serve as docking sites for SH2-domain containing kinases, leading to their activation which in turn leads to phosphorylation of downstream targets. Phosphorylation of serine and threonine residues may prevent subsequent tyrosine phosphorylation. Arginine methylation in the ITAM domain may interfere with the binding of SYK. It promotes signals leading to B-cell differentiation. Mice display impaired B-cell development which does not progress pass the progenitor stage. adaptive immune response immune system process transmembrane signaling receptor activity protein binding multivesicular body plasma membrane cell surface receptor signaling pathway external side of plasma membrane membrane integral component of membrane B cell receptor complex B cell differentiation B cell proliferation B cell activation protein homodimerization activity membrane raft B cell receptor signaling pathway protein homotetramerization uc009fqt.1 uc009fqt.2 uc009fqt.3 
ENSMUST00000003501.9 Elavl3 ENSMUST00000003501.9 ELAV like RNA binding protein 3 (from RefSeq NM_010487.2) ELAV3_MOUSE ENSMUST00000003501.1 ENSMUST00000003501.2 ENSMUST00000003501.3 ENSMUST00000003501.4 ENSMUST00000003501.5 ENSMUST00000003501.6 ENSMUST00000003501.7 ENSMUST00000003501.8 Huc NM_010487 Q60900 Q60901 uc009onl.1 uc009onl.2 uc009onl.3 uc009onl.4 RNA-binding protein that binds to AU-rich element (ARE) sequences of target mRNAs, including VEGF mRNA (PubMed:10734193, PubMed:9016658). May also bind poly-A tracts via RRM 3 (PubMed:9016658). May be involved in neuronal differentiation and maintenance (PubMed:9016658). Plays a role in the stabilization of GAP43 mRNA and in spatial learning (PubMed:11573004). Interacts with MAP1B light chain LC1. Event=Alternative splicing; Named isoforms=2; Name=HuC-L; IsoId=Q60900-1; Sequence=Displayed; Name=HuC-S; IsoId=Q60900-2; Sequence=VSP_005790; Brain specific (PubMed:9016658). Expressed in the hippocampus with expression in CA1, CA3 and dentate gyrus (PubMed:11573004). Up-regulated after spatial learning in radial arm maze experiments and in Morris water maze experiments. RRM 1 and RRM 2 bind cooperatively to AU-rich sequences in target mRNAs. RRM 3 binds to poly-A mRNA sequences. RNAi-mediated knockdown results in reduced Gap43 mRNA levels and impaired learning behavior in radial arm maze training. Belongs to the RRM elav family. nucleic acid binding RNA binding multicellular organism development nervous system development cell differentiation mRNA 3'-UTR AU-rich region binding ribonucleoprotein complex uc009onl.1 uc009onl.2 uc009onl.3 uc009onl.4 
ENSMUST00000003509.10 St8sia6 ENSMUST00000003509.10 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (from RefSeq NM_145838.2) ENSMUST00000003509.1 ENSMUST00000003509.2 ENSMUST00000003509.3 ENSMUST00000003509.4 ENSMUST00000003509.5 ENSMUST00000003509.6 ENSMUST00000003509.7 ENSMUST00000003509.8 ENSMUST00000003509.9 NM_145838 Q8K4T1 SIA8F_MOUSE Siat8f St8sia6 uc008ikc.1 uc008ikc.2 uc008ikc.3 uc008ikc.4 uc008ikc.5 Alpha-2,8-sialyltransferase that prefers O-glycans to N- glycans or glycolipids as acceptor substrates. The minimal acceptor substrate is the NeuAc-alpha-2,3(6)-Gal sequence at the non-reducing end of their carbohydrate groups. Reaction=a ganglioside GM3 + CMP-N-acetyl-beta-neuraminate = a ganglioside GD3 + CMP + H(+); Xref=Rhea:RHEA:48288, ChEBI:CHEBI:15378, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:79210, ChEBI:CHEBI:79214; Evidence=; Reaction=a ganglioside GM3 (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GD3 (d18:1(4E)) + CMP + H(+); Xref=Rhea:RHEA:41760, ChEBI:CHEBI:15378, ChEBI:CHEBI:57812, ChEBI:CHEBI:60065, ChEBI:CHEBI:60377, ChEBI:CHEBI:78436; Evidence=; Reaction=a ganglioside GD1a (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GT1a (d18:1(4E)) + CMP + H(+); Xref=Rhea:RHEA:41768, ChEBI:CHEBI:15378, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:78445, ChEBI:CHEBI:78447; Evidence=; Reaction=a ganglioside GD1a + CMP-N-acetyl-beta-neuraminate = a ganglioside GT1a + CMP + H(+); Xref=Rhea:RHEA:48912, ChEBI:CHEBI:15378, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:82637, ChEBI:CHEBI:90501; Evidence=; Reaction=a ganglioside GM1b (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GD1c (d18:1(4E)) + CMP + H(+); Xref=Rhea:RHEA:47576, ChEBI:CHEBI:15378, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:78568, ChEBI:CHEBI:87787; Evidence=; Reaction=a ganglioside GM1b + CMP-N-acetyl-beta-neuraminate = a ganglioside GD1c + CMP + H(+); Xref=Rhea:RHEA:48916, ChEBI:CHEBI:15378, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:90151, ChEBI:CHEBI:90856; Evidence=; Reaction=a ganglioside GM4 (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = an N-acetyl-alpha-neuraminosyl-(2->8)-N-acetyl-alpha-neuraminosyl- (2->3)-beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + CMP + H(+); Xref=Rhea:RHEA:48924, ChEBI:CHEBI:15378, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:78482, ChEBI:CHEBI:90858; Evidence=; Reaction=CMP-N-acetyl-beta-neuraminate + N-acetyl-alpha-neuraminosyl- (2->3)-beta-D-galactosyl-(1<->1')-ceramide = CMP + H(+) + N-acetyl- alpha-neuraminosyl-(2->8)-N-acetyl-alpha-neuraminosyl-(2->3)-beta-D- galactosyl-(1<->1')-ceramide; Xref=Rhea:RHEA:48928, ChEBI:CHEBI:15378, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:82643, ChEBI:CHEBI:90859; Evidence=; Reaction=a ganglioside GT1b (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GQ1b (d18:1(4E)) + CMP + H(+); Xref=Rhea:RHEA:41772, ChEBI:CHEBI:15378, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:78452, ChEBI:CHEBI:78455; Evidence=; Reaction=a ganglioside GT1b + CMP-N-acetyl-beta-neuraminate = a ganglioside GQ1b + CMP + H(+); Xref=Rhea:RHEA:48932, ChEBI:CHEBI:15378, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:82940, ChEBI:CHEBI:90862; Evidence=; Protein modification; protein glycosylation. Golgi apparatus membrane ; Single- pass type II membrane protein Highly expressed in kidney and expressed and all tissues tested. Belongs to the glycosyltransferase 29 family. Name=Functional Glycomics Gateway - GTase; Note=ST8Sia VI; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_mou_661"; Golgi membrane ganglioside biosynthetic process blastocyst hatching Golgi apparatus protein glycosylation protein O-linked glycosylation sialyltransferase activity glycoprotein metabolic process glycolipid biosynthetic process oligosaccharide metabolic process membrane integral component of membrane carbohydrate biosynthetic process transferase activity transferase activity, transferring glycosyl groups sialylation uc008ikc.1 uc008ikc.2 uc008ikc.3 uc008ikc.4 uc008ikc.5 
ENSMUST00000003512.9 Fcgrt ENSMUST00000003512.9 Fc fragment of IgG receptor and transporter, transcript variant 1 (from RefSeq NM_010189.3) ENSMUST00000003512.1 ENSMUST00000003512.2 ENSMUST00000003512.3 ENSMUST00000003512.4 ENSMUST00000003512.5 ENSMUST00000003512.6 ENSMUST00000003512.7 ENSMUST00000003512.8 FCGRN_MOUSE Fcrn NM_010189 Q61559 Q9QUR0 Q9R2A5 uc009gtf.1 uc009gtf.2 uc009gtf.3 uc009gtf.4 Cell surface receptor that transfers passive humoral immunity from the mother to the newborn. Binds to the Fc region of monomeric immunoglobulin gamma and mediates its selective uptake from milk (PubMed:7504013). IgG in the milk is bound at the apical surface of the intestinal epithelium. The resultant FcRn-IgG complexes are transcytosed across the intestinal epithelium and IgG is released from FcRn into blood or tissue fluids. Throughout life, contributes to effective humoral immunity by recycling IgG and extending its half-life in the circulation. Mechanistically, monomeric IgG binding to FcRn in acidic endosomes of endothelial and hematopoietic cells recycles IgG to the cell surface where it is released into the circulation. In addition of IgG, regulates homeostasis of the other most abundant circulating protein albumin/ALB. FcRn complex consists of two subunits: p51, and p14 which is equivalent to beta-2-microglobulin. It forms an MHC class I-like heterodimer. Interacts with albumin/ALB; this interaction regulates ALB homeostasis. Cell membrane ; Single-pass type I membrane protein Endosome membrane Intestinal epithelium of suckling rodents. Expressed in neonatal intestine and fetal yolk sac. Belongs to the immunoglobulin superfamily. positive regulation of T cell mediated cytotoxicity antigen processing and presentation of endogenous peptide antigen via MHC class Ib antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent extracellular space endosome plasma membrane immune response external side of plasma membrane endosome membrane membrane integral component of membrane IgG binding beta-2-microglobulin binding peptide antigen binding uc009gtf.1 uc009gtf.2 uc009gtf.3 uc009gtf.4 
ENSMUST00000003513.11 Nosip ENSMUST00000003513.11 nitric oxide synthase interacting protein, transcript variant 1 (from RefSeq NM_025533.3) ENSMUST00000003513.1 ENSMUST00000003513.10 ENSMUST00000003513.2 ENSMUST00000003513.3 ENSMUST00000003513.4 ENSMUST00000003513.5 ENSMUST00000003513.6 ENSMUST00000003513.7 ENSMUST00000003513.8 ENSMUST00000003513.9 NM_025533 NOSIP_MOUSE Q9D6T0 Q9D8J9 uc009gsx.1 uc009gsx.2 uc009gsx.3 uc009gsx.4 E3 ubiquitin-protein ligase that is essential for proper development of the forebrain, the eye and the face. Catalyzes monoubiquitination of serine/threonine-protein phosphatase 2A (PP2A) catalytic subunit PPP2CA/PPP2CB (PubMed:25546391). Negatively regulates nitric oxide production by inducing NOS1 and NOS3 translocation to actin cytoskeleton and inhibiting their enzymatic activity (By similarity). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Protein modification; protein ubiquitination. Interacts with NOS1 and NOS3 (By similarity). Interacts with PP2A holoenzyme, containing PPP2CA, PPP2CB, PPP2R1A and PPP2R2A subunits (PubMed:25546391). Cytoplasm Nucleus Note=Translocates from nucleus to cytoplasm in the G2 phase of the cell cycle. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9D6T0-1; Sequence=Displayed; Name=2; IsoId=Q9D6T0-2; Sequence=VSP_023795; The U-box-like region is a truncated U-box domain. It is unknown whether it is functional or not. Although mutant embryos are present at the expected Mendelian rate at 18.5 dpc, they die shortly after birth with signs of respiratory distress and cyanosis, likely due to craniofacial malformations. Malformations in knockout mice range from ocular hypotelorism, narrow snout, laterally cleft lip, and cleft secondary palate to cyclopia and presence of proboscis or a single head-like protrusion devoid of facial features. In addition, the weight of knockout embryos is significantly reduced. In knockout animals, PP2A activity is increased in palatal and facial tissues as compared to wild-type, but not in lungs, which do not seem to be affected by the mutation. Belongs to the NOSIP family. nucleus cytoplasm multicellular organism development protein ubiquitination transferase activity negative regulation of catalytic activity negative regulation of nitric-oxide synthase activity ubiquitin protein ligase activity uc009gsx.1 uc009gsx.2 uc009gsx.3 uc009gsx.4 
ENSMUST00000003521.10 Rps11 ENSMUST00000003521.10 ribosomal protein S11 (from RefSeq NM_013725.4) ENSMUST00000003521.1 ENSMUST00000003521.2 ENSMUST00000003521.3 ENSMUST00000003521.4 ENSMUST00000003521.5 ENSMUST00000003521.6 ENSMUST00000003521.7 ENSMUST00000003521.8 ENSMUST00000003521.9 NM_013725 Q3UC02 Q3UC02_MOUSE Rps11 uc009gth.1 uc009gth.2 uc009gth.3 uc009gth.4 Belongs to the universal ribosomal protein uS17 family. structural constituent of ribosome ribosome translation cytosolic small ribosomal subunit uc009gth.1 uc009gth.2 uc009gth.3 uc009gth.4 
ENSMUST00000003527.10 Supt5 ENSMUST00000003527.10 suppressor of Ty 5, DSIF elongation factor subunit, transcript variant 1 (from RefSeq NM_013676.2) ENSMUST00000003527.1 ENSMUST00000003527.2 ENSMUST00000003527.3 ENSMUST00000003527.4 ENSMUST00000003527.5 ENSMUST00000003527.6 ENSMUST00000003527.7 ENSMUST00000003527.8 ENSMUST00000003527.9 NM_013676 O55201 Q3UJ77 Q3UJH1 Q3UKD7 Q3UM54 Q6PB73 Q6PDP0 Q6PFR4 SPT5H_MOUSE Supt5h uc009fyj.1 uc009fyj.2 uc009fyj.3 Component of the DRB sensitivity-inducing factor complex (DSIF complex), which regulates mRNA processing and transcription elongation by RNA polymerase II. DSIF positively regulates mRNA capping by stimulating the mRNA guanylyltransferase activity of RNGTT/CAP1A. DSIF also acts cooperatively with the negative elongation factor complex (NELF complex) to enhance transcriptional pausing at sites proximal to the promoter. Transcriptional pausing may facilitate the assembly of an elongation competent RNA polymerase II complex. DSIF and NELF promote pausing by inhibition of the transcription elongation factor TFIIS/S-II. TFIIS/S-II binds to RNA polymerase II at transcription pause sites and stimulates the weak intrinsic nuclease activity of the enzyme. Cleavage of blocked transcripts by RNA polymerase II promotes the resumption of transcription from the new 3' terminus and may allow repeated attempts at transcription through natural pause sites (By similarity). Interacts with SUPT4H1 to form DSIF. DSIF interacts with the positive transcription elongation factor b complex (P-TEFb complex), which is composed of CDK9 and cyclin-T (CCNT1 or CCNT2). DSIF interacts with RNA polymerase II, and this interaction is reduced by phosphorylation of the C-terminal domain (CTD) of POLR2A by P-TEFb. DSIF also interacts with the NELF complex, which is composed of NELFA, NELFB, NELFD and NELFE, and this interaction occurs following prior binding of DSIF to RNA polymerase II. Also interacts with PRMT1/HRMT1L2, HTATSF1/TATSF1, RNGTT/CAP1A, PRMT5/SKB1, SUPT6H, and can interact with PIN1. Component of a complex which is at least composed of HTATSF1/Tat-SF1, the P-TEFb complex components CDK9 and CCNT1, RNA polymerase II, SUPT5H, and NCL/nucleolin (By similarity). Interacts with MCM3AP (By similarity). Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O55201-1; Sequence=Displayed; Name=2; IsoId=O55201-2; Sequence=VSP_016283; Methylated by PRMT1/HRMT1L2 and PRMT5/SKB1. Methylation negatively regulates interaction with P-TEFb and RNA polymerase II (By similarity). Phosphorylated by CDK7 and CDK9. Phosphorylation by P-TEFb alleviates transcriptional pausing. Phosphorylation may also stimulate interaction with PIN1. Bulk phosphorylation occurs predominantly in mitosis (By similarity). Belongs to the SPT5 family. Sequence=AAH57449.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; negative regulation of transcription from RNA polymerase II promoter chromatin binding mRNA binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter positive regulation of macroautophagy enzyme binding DSIF complex regulation of DNA-templated transcription, elongation negative regulation of DNA-templated transcription, elongation positive regulation of DNA-templated transcription, elongation positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity negative regulation of mRNA polyadenylation uc009fyj.1 uc009fyj.2 uc009fyj.3 
ENSMUST00000003529.9 Paf1 ENSMUST00000003529.9 Paf1, RNA polymerase II complex component (from RefSeq NM_019458.3) ENSMUST00000003529.1 ENSMUST00000003529.2 ENSMUST00000003529.3 ENSMUST00000003529.4 ENSMUST00000003529.5 ENSMUST00000003529.6 ENSMUST00000003529.7 ENSMUST00000003529.8 NM_019458 PAF1_MOUSE Q3UY97 Q8K2T8 Q9CS63 Q9JJ99 uc009fyu.1 uc009fyu.2 uc009fyu.3 Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser- 5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. Connects PAF1C with the RNF20/40 E3 ubiquitin-protein ligase complex. Involved in polyadenylation of mRNA precursors (By similarity). Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and SKIC8. The PAF1 complex interacts with PHF5A (PubMed:27749823). Interacts with POLR2A, TCEA1, SKIC3, KMT2A/MLL1, SUPT5H, RNF20 and RNF40. Interacts with UBE2E1 (By similarity). Nucleus. Note=Punctuate distribution throughout the nucleus except in nucleoli and the perinuclear chromatin. Belongs to the PAF1 family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core binding endodermal cell fate commitment chromatin binding protein binding nucleus nucleoplasm cytoplasm transcription elongation from RNA polymerase II promoter mRNA polyadenylation histone monoubiquitination membrane Wnt signaling pathway histone modification nucleosome positioning Cdc73/Paf1 complex stem cell population maintenance cell junction positive regulation of histone methylation positive regulation of mRNA 3'-end processing positive regulation of transcription elongation from RNA polymerase II promoter histone H2B ubiquitination protein localization to nucleus transcriptionally active chromatin negative regulation of myeloid cell differentiation positive regulation of transcription from RNA polymerase II promoter cellular response to lipopolysaccharide positive regulation of cell cycle G1/S phase transition uc009fyu.1 uc009fyu.2 uc009fyu.3 
ENSMUST00000003536.9 Med29 ENSMUST00000003536.9 mediator complex subunit 29 (from RefSeq NM_026042.4) ENSMUST00000003536.1 ENSMUST00000003536.2 ENSMUST00000003536.3 ENSMUST00000003536.4 ENSMUST00000003536.5 ENSMUST00000003536.6 ENSMUST00000003536.7 ENSMUST00000003536.8 Ixl MED29_MOUSE NM_026042 Q9DB91 uc009fyt.1 uc009fyt.2 uc009fyt.3 uc009fyt.4 Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Associates with the MED18/MED20 heteromer (By similarity). Nucleus Belongs to the Mediator complex subunit 29 family. molecular_function nucleus nucleoplasm biological_process mediator complex uc009fyt.1 uc009fyt.2 uc009fyt.3 uc009fyt.4 
ENSMUST00000003550.11 Ncstn ENSMUST00000003550.11 nicastrin (from RefSeq NM_021607.3) E9QLZ6 ENSMUST00000003550.1 ENSMUST00000003550.10 ENSMUST00000003550.2 ENSMUST00000003550.3 ENSMUST00000003550.4 ENSMUST00000003550.5 ENSMUST00000003550.6 ENSMUST00000003550.7 ENSMUST00000003550.8 ENSMUST00000003550.9 NICA_MOUSE NM_021607 P57716 Q8VE20 uc007dpk.1 uc007dpk.2 uc007dpk.3 uc007dpk.4 Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid- beta precursor protein). The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels. Component of the gamma-secretase complex. The functional gamma-secretase complex is composed of at least four polypeptides: a presenilin homodimer (PSEN1 or PSEN2), nicastrin (NCSTN), APH1 (APH1A or APH1B) and PEN2 (PubMed:12716934). Binds to proteolytic processed C- terminal fragments C83 and C99 of the amyloid precursor protein (APP). Interacts with PSEN1 and PSEN2. P57716; P14211: Calr; NbExp=2; IntAct=EBI-998934, EBI-644340; P57716; Q9DBY1: Syvn1; NbExp=2; IntAct=EBI-998934, EBI-644384; Membrane ; Single- pass type I membrane protein Cytoplasmic vesicle membrane ; Single- pass type I membrane protein Melanosome Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. N-glycosylated. Full embryonic lethality. No embryos survive past 10.d dpc. At 9.5 dpc the embryos display a phenotype similar to that of Notch1-deficient mice, with defects in the development of the caudal part of the embryo and in somite segementation, defective vascular morphogenesis in the yolk sac, and patterning defects in the developing heart and neural tube. Assembly of the gamma-secretase complex and APP processing are disrupted. Belongs to the nicastrin family. myeloid cell homeostasis protein binding cytoplasm mitochondrion lysosome lysosomal membrane early endosome endoplasmic reticulum Golgi apparatus plasma membrane integral component of plasma membrane membrane protein ectodomain proteolysis dopamine receptor signaling pathway glutamate receptor signaling pathway Notch signaling pathway Notch receptor processing learning or memory synaptic vesicle peptidase activity membrane integral component of membrane protein processing cerebellum development central nervous system myelination adult behavior cytoplasmic vesicle membrane cytoplasmic vesicle macromolecular complex beta-amyloid formation T cell proliferation sarcolemma melanosome amyloid precursor protein metabolic process amyloid precursor protein biosynthetic process positive regulation of amyloid precursor protein biosynthetic process positive regulation of catalytic activity synapse beta-amyloid metabolic process epithelial cell proliferation neuron apoptotic process gamma-secretase complex neuron death cellular response to calcium ion synaptic membrane integral component of presynaptic membrane regulation of long-term synaptic potentiation short-term synaptic potentiation endopeptidase activity uc007dpk.1 uc007dpk.2 uc007dpk.3 uc007dpk.4 
ENSMUST00000003554.11 Casq1 ENSMUST00000003554.11 calsequestrin 1 (from RefSeq NM_009813.2) CASQ1_MOUSE ENSMUST00000003554.1 ENSMUST00000003554.10 ENSMUST00000003554.2 ENSMUST00000003554.3 ENSMUST00000003554.4 ENSMUST00000003554.5 ENSMUST00000003554.6 ENSMUST00000003554.7 ENSMUST00000003554.8 ENSMUST00000003554.9 NM_009813 O09165 uc007dqa.1 uc007dqa.2 uc007dqa.3 uc007dqa.4 Calsequestrin is a high-capacity, moderate affinity, calcium- binding protein and thus acts as an internal calcium store in muscle. Calcium ions are bound by clusters of acidic residues at the protein surface, often at the interface between subunits. Can bind around 80 Ca(2+) ions (By similarity). Regulates the release of lumenal Ca(2+) via the calcium release channel RYR1; this plays an important role in triggering muscle contraction. Negatively regulates store-operated Ca(2+) entry (SOCE) activity (By similarity). Monomer; increases in response to a depletion of intracellular calcium. Homodimer. Homotetramer and homopolymer. Can form linear homooligomers. Ca(2+) ions promote oligomerization. Interacts (via C- terminal end and preferentially with the monomeric form) with STIM1; this interaction increases in response to a depletion of intracellular calcium, decreases both STIM1 aggregation and clustering, interaction of STIM1 with ORAI1 and store-operated Ca(2+) entry (SOCE) activity. Interacts with ASPH and TRDN. Endoplasmic reticulum Sarcoplasmic reticulum Sarcoplasmic reticulum lumen Sarcoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side Mitochondrion matrix Note=This isoform of calsequestrin occurs in the sarcoplasmic reticulum's terminal cisternae luminal spaces of fast skeletal muscle cells (PubMed:22049211). Preferentially forms linear and round aggregates in the endoplasmic reticulum (ER) of resting cells. In a minority of cells, homogeneously detected in the ER lumen. Colocalizes with STIM1 at endoplasmic reticulum in response to a depletion of intracellular calcium (By similarity). Detected in skeletal muscle (at protein level). Detected in skeletal muscle. N-glycosylated. Mice are viable and fertile, but have a lower body weight than wild-type, due to a reduction in fast-twitch muscle mass. Fast-twitch muscle from mutant mice exhibits slower contraction kinetics and requires more time to achieve peak tension and to achieve half-relaxation after a contraction. Fast-twitch muscle fibers from mutant mice show a strikingly altered structure of the calcium release units in the sarcoplasmic reticulum with a strongly increased number of ryanodine receptors, plus narrower sarcoplasmic reticulum cisternae. In addition, the number of mitochondria is increased in mutant muscle. Mutant muscle fibers show smaller calcium transients upon electrical stimulation and release less Ca(2+) in response to caffeine. Belongs to the calsequestrin family. Sequence=AAC63616.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; calcium ion binding cytoplasm mitochondrion mitochondrial matrix endoplasmic reticulum Golgi apparatus regulation of muscle contraction endoplasmic reticulum organization skeletal muscle tissue development response to heat response to organic substance regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum terminal cisterna terminal cisterna lumen regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion response to muscle inactivity response to denervation involved in regulation of muscle adaptation membrane sarcoplasmic reticulum myofibril Z disc T-tubule I band sarcoplasmic reticulum membrane sarcoplasmic reticulum lumen sarcolemma identical protein binding intracellular membrane-bounded organelle sarcomere organization metal ion binding protein polymerization positive regulation of release of sequestered calcium ion into cytosol regulation of sequestering of calcium ion positive regulation of store-operated calcium channel activity regulation of store-operated calcium entry uc007dqa.1 uc007dqa.2 uc007dqa.3 uc007dqa.4 
ENSMUST00000003561.10 Phyhip ENSMUST00000003561.10 phytanoyl-CoA hydroxylase interacting protein (from RefSeq NM_145981.3) ENSMUST00000003561.1 ENSMUST00000003561.2 ENSMUST00000003561.3 ENSMUST00000003561.4 ENSMUST00000003561.5 ENSMUST00000003561.6 ENSMUST00000003561.7 ENSMUST00000003561.8 ENSMUST00000003561.9 NM_145981 PHYIP_MOUSE Q8K0S0 uc007uoa.1 uc007uoa.2 uc007uoa.3 Its interaction with PHYH suggests a role in the development of the central system. Interacts with PHYH and ADGRB1. Highly expressed in the brain. At 18 dpc, expressed in most tissues, particularly in the skin. By neonatal day 1, the expression in brain and skin is markedly increased, whereas expression in the heart and skeletal muscles shows steady state levels similar to those observed in the fetus. At adulthood, very high expression in brain, little or no expression in other tissues. Overexpression in heart induce atrial tachycardia and increased susceptibility to aconitine-induced arrhythmia, possibly due to altered expression of voltage-gated K(1+) channel and adrenergic beta1-receptor (ADRB1). Belongs to the PHYHIP family. Sequence=AAH30494.2; Type=Erroneous initiation; Evidence=; protein binding cytoplasm protein localization protein tyrosine kinase binding uc007uoa.1 uc007uoa.2 uc007uoa.3 
ENSMUST00000003569.6 Inmt ENSMUST00000003569.6 indolethylamine N-methyltransferase (from RefSeq NM_009349.3) ENSMUST00000003569.1 ENSMUST00000003569.2 ENSMUST00000003569.3 ENSMUST00000003569.4 ENSMUST00000003569.5 INMT_MOUSE NM_009349 P40936 Q9CZ50 Temt uc009can.1 uc009can.2 uc009can.3 Catalyzes the N-methylation of tryptamine and structurally related compounds (By similarity). Functions as a thioether S- methyltransferase and is active with a variety of thioethers and the corresponding selenium and tellurium compounds, including 3- methylthiopropionaldehyde, dimethyl selenide, dimethyl telluride, 2- methylthioethylamine, 2-methylthioethanol, methyl-n-propyl sulfide and diethyl sulfide. Plays an important role in the detoxification of selenium compounds. Reaction=a tertiary amine + S-adenosyl-L-methionine = a methylated tertiary amine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:53928, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:137982, ChEBI:CHEBI:137983; EC=2.1.1.49; Evidence=; Reaction=a secondary amine + S-adenosyl-L-methionine = a methylated secondary amine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:53924, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:137419, ChEBI:CHEBI:137984; EC=2.1.1.49; Evidence=; Reaction=a primary amine + S-adenosyl-L-methionine = a methylated primary amine + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:23136, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:65296, ChEBI:CHEBI:131823; EC=2.1.1.49; Evidence=; Reaction=dimethyl sulfide + S-adenosyl-L-methionine = S-adenosyl-L- homocysteine + trimethylsulfonium; Xref=Rhea:RHEA:19613, ChEBI:CHEBI:17434, ChEBI:CHEBI:17437, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789; EC=2.1.1.96; Evidence=; Inhibited by the S-adenosyl-L-methionine analog sinefungin and by the product S-adenosyl-L-homocysteine. Kinetic parameters: KM=0.4 uM for dimethyl selenide; KM=1.0 uM for dimethyl sulfide; KM=1.0 uM for S-adenosyl-L-methionine; pH dependence: Optimum pH is 6.3.; Monomer. Cytoplasm Detected in lung and liver (at protein level). Belongs to the class I-like SAM-binding methyltransferase superfamily. NNMT/PNMT/TEMT family. Was originally thought to be a thioether S-methyltransferase but appears to be the ortholog of human INMT. thioether S-methyltransferase activity cytoplasm cytosol methyltransferase activity amine metabolic process response to toxic substance transferase activity amine N-methyltransferase activity methylation dimethyl selenide methyltransferase activity uc009can.1 uc009can.2 uc009can.3 
ENSMUST00000003572.10 Gars1 ENSMUST00000003572.10 glycyl-tRNA synthetase 1 (from RefSeq NM_180678.3) ENSMUST00000003572.1 ENSMUST00000003572.2 ENSMUST00000003572.3 ENSMUST00000003572.4 ENSMUST00000003572.5 ENSMUST00000003572.6 ENSMUST00000003572.7 ENSMUST00000003572.8 ENSMUST00000003572.9 GARS_MOUSE Gars NM_180678 Q3TMM4 Q3UK01 Q8VC67 Q9CZD3 uc009cai.1 uc009cai.2 uc009cai.3 Catalyzes the ATP-dependent ligation of glycine to the 3'-end of its cognate tRNA, via the formation of an aminoacyl-adenylate intermediate (Gly-AMP). Also produces diadenosine tetraphosphate (Ap4A), a universal pleiotropic signaling molecule needed for cell regulation pathways, by direct condensation of 2 ATPs. Thereby, may play a special role in Ap4A homeostasis. Reaction=ATP + glycine + tRNA(Gly) = AMP + diphosphate + glycyl- tRNA(Gly); Xref=Rhea:RHEA:16013, Rhea:RHEA-COMP:9664, Rhea:RHEA- COMP:9683, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57305, ChEBI:CHEBI:78442, ChEBI:CHEBI:78522, ChEBI:CHEBI:456215; EC=6.1.1.14; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16014; Evidence=; Reaction=2 ATP + H(+) = diphosphate + P(1),P(4)-bis(5'-adenosyl) tetraphosphate; Xref=Rhea:RHEA:34935, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58141; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:34936; Evidence=; Homodimer. Q9CZD3; P41250: GARS1; Xeno; NbExp=2; IntAct=EBI-8321941, EBI-724143; Cytoplasm Mitochondrion Cell projection, axon Secreted Secreted, extracellular exosome Note=Associated with granules in cultured neuron cells (By similarity). Secreted by motor neuron and differentiated myotube cell lines, but not by undifferentiated myoblasts, possibly through the exosome pathway (PubMed:26503042). Note=Mice (Nmf249) heterozygous for the P278YK variant are used a model for human Charcot-Marie-Tooth 2D (CMT2D), which is caused by dominant GARS mutations. They exhibit reduced amplitudes of muscle compound action potentials and a large reduction in sciatic nerve conduction velocity in the absence of demyelination or remyelination, resulting from an age-related decrease in the number of large myelinated motor and sensory axons. The loss of myelinated axons is length-dependent, and there is a length- and time-dependent decrease in motor innervation of distal versus proximal muscles. Most of the axonal loss occurs by 1 month of age and mice that survive this period can be long-lived. At the molecular level, the P278YK mutation creates a neomorphic binding activity leading to the interaction of the variant with NRP1. This interaction competes out VEGFA binding and inhibits VEGFA-NRP1 signling which is essential for motor neuron survival. VEGFA, but not GDNF treatment significantly ameliorates the loss of motor function in mutant mice. Belongs to the class-II aminoacyl-tRNA synthetase family. nucleotide binding bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity aminoacyl-tRNA ligase activity glycine-tRNA ligase activity protein binding ATP binding extracellular region cytoplasm mitochondrion cytosol translation tRNA aminoacylation for protein translation glycyl-tRNA aminoacylation diadenosine tetraphosphate biosynthetic process transferase activity hydrolase activity ligase activity secretory granule axon identical protein binding cell projection protein dimerization activity extracellular exosome mitochondrial glycyl-tRNA aminoacylation uc009cai.1 uc009cai.2 uc009cai.3 
ENSMUST00000003574.5 Cyp4f18 ENSMUST00000003574.5 cytochrome P450, family 4, subfamily f, polypeptide 18 (from RefSeq NM_024444.2) CP4F3_MOUSE Cyp4f18 Cyp4f3 E9QLZ3 ENSMUST00000003574.1 ENSMUST00000003574.2 ENSMUST00000003574.3 ENSMUST00000003574.4 NM_024444 Q99N16 Q9D8N4 uc009mfe.1 uc009mfe.2 uc009mfe.3 A cytochrome P450 monooxygenase involved in the metabolism of the pro-inflammatory lipid mediator leukotriene B4 (LTB4) (PubMed:16380383, PubMed:24632148). Hydroxylates at the omega-1 and omega-2 positions LTB4. This oxidation step leads to LTB4 inactivation, which is postulated to be a crucial part of the resolution of inflammation (PubMed:16380383, PubMed:24632148). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:16380383, PubMed:24632148). Reaction=leukotriene B4 + O2 + reduced [NADPH--hemoprotein reductase] = 18-hydroxy-leukotriene B4 + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:53440, Rhea:RHEA-COMP:11964, Rhea:RHEA- COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57461, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:137391; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:53441; Evidence=; Reaction=leukotriene B4 + O2 + reduced [NADPH--hemoprotein reductase] = 19-hydroxy-leukotriene B4 + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:53436, Rhea:RHEA-COMP:11964, Rhea:RHEA- COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57461, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:137390; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:53437; Evidence=; Name=heme; Xref=ChEBI:CHEBI:30413; Evidence=; Lipid metabolism; leukotriene B4 degradation. Endoplasmic reticulum membrane ; Single-pass membrane protein Microsome membrane ; Single-pass membrane protein Highest level in polymorphonuclear leukocytes and dendritic cells. Detectable in lymph nodes, spleen, bone marrow and peripheral blood. Highly expressed in ovary. Very low level in liver, kidney, and smooth muscle. Expressed in neutrophils (at protein level). Up-regulated in bone marrow-derived dendritic cells by bacterial lipopolysaccharide (LPS), a ligand for toll-like receptor 4 (TLR4), and by poly(I:C), a ligand for TLR3. Mice are born at the expected Mendelian rate. No visible phenotype. Belongs to the cytochrome P450 family. very long-chain fatty acid metabolic process long-chain fatty acid metabolic process monooxygenase activity iron ion binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process regulation of blood pressure arachidonic acid epoxygenase activity membrane integral component of membrane apical plasma membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen drug metabolic process alkane 1-monooxygenase activity arachidonic acid metabolic process epoxygenase P450 pathway heme binding organelle membrane negative regulation of icosanoid secretion positive regulation of icosanoid secretion leukotriene B4 catabolic process vitamin E metabolic process menaquinone catabolic process phylloquinone catabolic process vitamin K catabolic process intracellular membrane-bounded organelle metal ion binding leukotriene-B4 20-monooxygenase activity arachidonic acid omega-hydroxylase activity alpha-tocopherol omega-hydroxylase activity tocotrienol omega-hydroxylase activity oxidation-reduction process uc009mfe.1 uc009mfe.2 uc009mfe.3 
ENSMUST00000003575.11 Tpm4 ENSMUST00000003575.11 tropomyosin 4 (from RefSeq NM_001001491.2) ENSMUST00000003575.1 ENSMUST00000003575.10 ENSMUST00000003575.2 ENSMUST00000003575.3 ENSMUST00000003575.4 ENSMUST00000003575.5 ENSMUST00000003575.6 ENSMUST00000003575.7 ENSMUST00000003575.8 ENSMUST00000003575.9 NM_001001491 Q6IRU2 TPM4_MOUSE uc009mfi.1 uc009mfi.2 uc009mfi.3 uc009mfi.4 Binds to actin filaments in muscle and non-muscle cells. Plays a central role, in association with the troponin complex, in the calcium dependent regulation of vertebrate striated muscle contraction. Smooth muscle contraction is regulated by interaction with caldesmon. In non-muscle cells is implicated in stabilizing cytoskeleton actin filaments. Binds calcium. Homodimer. Heterodimer of an alpha (TPM1, TPM3 or TPM4) and a beta (TPM2) chain. Cytoplasm, cytoskeleton Note=Associates with F-actin stress fibers. The molecule is in a coiled coil structure that is formed by 2 polypeptide chains. The sequence exhibits a prominent seven-residues periodicity. Belongs to the tropomyosin family. stress fiber podosome actin binding cytoplasm cytoskeleton actin filament actin filament organization actin cytoskeleton cortical cytoskeleton identical protein binding protein homodimerization activity metal ion binding protein heterodimerization activity actin filament binding uc009mfi.1 uc009mfi.2 uc009mfi.3 uc009mfi.4 
ENSMUST00000003597.15 Psg18 ENSMUST00000003597.15 pregnancy specific beta-1-glycoprotein 18, transcript variant 1 (from RefSeq NM_011963.2) B2RSG7 B2RSG7_MOUSE ENSMUST00000003597.1 ENSMUST00000003597.10 ENSMUST00000003597.11 ENSMUST00000003597.12 ENSMUST00000003597.13 ENSMUST00000003597.14 ENSMUST00000003597.2 ENSMUST00000003597.3 ENSMUST00000003597.4 ENSMUST00000003597.5 ENSMUST00000003597.6 ENSMUST00000003597.7 ENSMUST00000003597.8 ENSMUST00000003597.9 NM_011963 Psg18 uc009fji.1 uc009fji.2 uc009fji.3 uc009fji.4 cytokinin biosynthetic process positive regulation of gene expression regulation of interleukin-10 secretion uc009fji.1 uc009fji.2 uc009fji.3 uc009fji.4 
ENSMUST00000003599.9 Pcdhgb6 ENSMUST00000003599.9 protocadherin gamma subfamily B, 6 (from RefSeq NM_033578.3) ENSMUST00000003599.1 ENSMUST00000003599.2 ENSMUST00000003599.3 ENSMUST00000003599.4 ENSMUST00000003599.5 ENSMUST00000003599.6 ENSMUST00000003599.7 ENSMUST00000003599.8 NM_033578 Pcdhgb6 Q91XX4 Q91XX4_MOUSE uc008eqy.1 uc008eqy.2 uc008eqy.3 Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane ; Single-pass type I membrane protein Membrane ; Single-pass type I membrane protein molecular_function calcium ion binding plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules biological_process membrane integral component of membrane uc008eqy.1 uc008eqy.2 uc008eqy.3 
ENSMUST00000003620.13 Prodh ENSMUST00000003620.13 proline dehydrogenase, transcript variant 2 (from RefSeq NR_189733.1) A0JLW6 ENSMUST00000003620.1 ENSMUST00000003620.10 ENSMUST00000003620.11 ENSMUST00000003620.12 ENSMUST00000003620.2 ENSMUST00000003620.3 ENSMUST00000003620.4 ENSMUST00000003620.5 ENSMUST00000003620.6 ENSMUST00000003620.7 ENSMUST00000003620.8 ENSMUST00000003620.9 NR_189733 PROD_MOUSE Pro1 Q3UNR4 Q9QX61 Q9WU79 uc007ymu.1 uc007ymu.2 uc007ymu.3 Converts proline to delta-1-pyrroline-5-carboxylate. Reaction=a quinone + L-proline = (S)-1-pyrroline-5-carboxylate + a quinol + H(+); Xref=Rhea:RHEA:23784, ChEBI:CHEBI:15378, ChEBI:CHEBI:17388, ChEBI:CHEBI:24646, ChEBI:CHEBI:60039, ChEBI:CHEBI:132124; EC=1.5.5.2; Name=FAD; Xref=ChEBI:CHEBI:57692; Amino-acid degradation; L-proline degradation into L- glutamate; L-glutamate from L-proline: step 1/2. Mitochondrion matrix. Expressed in liver, kidney, heart and to a lesser extent in brain, lung and muscle. Note=Pro/re mice that have a premature termination on Prodh are sluggish in their movement. Belongs to the proline oxidase family. Sequence=AAD24776.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=AAI25328.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=EDK97501.1; Type=Erroneous gene model prediction; Evidence=; proline dehydrogenase activity mitochondrion mitochondrial inner membrane mitochondrial matrix proline metabolic process proline catabolic process proline catabolic process to glutamate oxidoreductase activity amino acid binding oxidation-reduction process FAD binding uc007ymu.1 uc007ymu.2 uc007ymu.3 
ENSMUST00000003621.10 Ess2 ENSMUST00000003621.10 ess-2 splicing factor, transcript variant 1 (from RefSeq NM_022408.2) Dgcr14 ENSMUST00000003621.1 ENSMUST00000003621.2 ENSMUST00000003621.3 ENSMUST00000003621.4 ENSMUST00000003621.5 ENSMUST00000003621.6 ENSMUST00000003621.7 ENSMUST00000003621.8 ENSMUST00000003621.9 Es2el Ess2 NM_022408 Q3UFM6 Q3UFM6_MOUSE uc007ymm.1 uc007ymm.2 The human ortholog of this gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of human chromosome band 22q11.2. The encoded protein localizes to the nucleus, and the orthologous protein in humans co-purifies with C complex spliceosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Nucleus Belongs to the ESS2 family. catalytic step 2 spliceosome uc007ymm.1 uc007ymm.2 
ENSMUST00000003622.16 Slc25a1 ENSMUST00000003622.16 solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1 (from RefSeq NM_153150.2) ENSMUST00000003622.1 ENSMUST00000003622.10 ENSMUST00000003622.11 ENSMUST00000003622.12 ENSMUST00000003622.13 ENSMUST00000003622.14 ENSMUST00000003622.15 ENSMUST00000003622.2 ENSMUST00000003622.3 ENSMUST00000003622.4 ENSMUST00000003622.5 ENSMUST00000003622.6 ENSMUST00000003622.7 ENSMUST00000003622.8 ENSMUST00000003622.9 NM_153150 Q3TDH6 Q8JZU2 Slc25a1 TXTP_MOUSE uc007ymp.1 uc007ymp.2 uc007ymp.3 uc007ymp.4 Mitochondrial electroneutral antiporter that exports citrate from the mitochondria into the cytosol in exchange for malate. Also able to mediate the exchange of citrate for isocitrate, phosphoenolpyruvate, cis-aconitate and to a lesser extend cis- aconitate, maleate and succinate. In the cytoplasm citrate is important in the regulation of glycolysis through a feedback mechanism and in the production of acetyl-CoA which is needed for the synthesis of fatty acids, sterols, prostaglandins, dolichol and coenzyme Q (CoQ). Required for proper neuromuscular junction formation. Reaction=(S)-malate(in) + citrate(out) = (S)-malate(out) + citrate(in); Xref=Rhea:RHEA:72483, ChEBI:CHEBI:15589, ChEBI:CHEBI:16947; Evidence=; Reaction=citrate(out) + D-threo-isocitrate(in) = citrate(in) + D-threo- isocitrate(out); Xref=Rhea:RHEA:72471, ChEBI:CHEBI:15562, ChEBI:CHEBI:16947; Evidence=; Reaction=citrate(out) + succinate(in) = citrate(in) + succinate(out); Xref=Rhea:RHEA:28835, ChEBI:CHEBI:16947, ChEBI:CHEBI:30031; Evidence=; Reaction=cis-aconitate(in) + citrate(out) = cis-aconitate(out) + citrate(in); Xref=Rhea:RHEA:72475, ChEBI:CHEBI:16383, ChEBI:CHEBI:16947; Evidence=; Reaction=citrate(out) + trans-aconitate(in) = citrate(in) + trans- aconitate(out); Xref=Rhea:RHEA:72479, ChEBI:CHEBI:15708, ChEBI:CHEBI:16947; Evidence=; Reaction=citrate(out) + phosphoenolpyruvate(in) = citrate(in) + phosphoenolpyruvate(out); Xref=Rhea:RHEA:72487, ChEBI:CHEBI:16947, ChEBI:CHEBI:58702; Evidence=; Reaction=citrate(out) + maleate(in) = citrate(in) + maleate(out); Xref=Rhea:RHEA:72491, ChEBI:CHEBI:16947, ChEBI:CHEBI:30780; Evidence=; Mitochondrion inner membrane ; Multi-pass membrane protein Mitochondrion membrane ; Multi-pass membrane protein Expressed minimally but ubiquitously throughout the adult brain. Detected at higher levels in the olfactory bulb, neocortex and cerebellum. Also expressed in a subset of large cells in the globus pallidus. Expression reaches a maximum between 16 dpc and P0 and then declines in adulthood. Possesses a short cleavable presequence, which, however, is found to be dispensable both for targeting to mitochondria and insertion into the inner membrane. However, the presequence is required to keep SLC25A1 in a soluble state and thus in an import-competent state. Mature SLC25A1 lacking the presequence is prone to aggregation. Belongs to the mitochondrial carrier (TC 2.A.29) family. mitochondrion mitochondrial inner membrane mitochondrial citrate transport membrane integral component of membrane transmembrane transporter activity transmembrane transport citrate secondary active transmembrane transporter activity uc007ymp.1 uc007ymp.2 uc007ymp.3 uc007ymp.4 
ENSMUST00000003635.7 Ier3 ENSMUST00000003635.7 immediate early response 3 (from RefSeq NM_133662.2) ENSMUST00000003635.1 ENSMUST00000003635.2 ENSMUST00000003635.3 ENSMUST00000003635.4 ENSMUST00000003635.5 ENSMUST00000003635.6 Gly96 IEX1_MOUSE Iex1 NM_133662 P46694 Q4FJY1 Q91VZ5 uc008cio.1 uc008cio.2 uc008cio.3 May play a role in the ERK signaling pathway by inhibiting the dephosphorylation of ERK by phosphatase PP2A-PPP2R5C holoenzyme. Acts also as an ERK downstream effector mediating survival (By similarity). As a member of the NUPR1/RELB/IER3 survival pathway, may allow the development of pancreatic intraepithelial neoplasias. Interacts with the PPP2R5C-PP2A holoenzyme and ERK kinases; regulates ERK dephosphorylation. Membrane ; Single-pass type II membrane protein Expressed predominantly in the lung, testes and the uterus. By serum growth factors and TPA. Glycosylated. Belongs to the IER3 family. response to protozoan negative regulation of systemic arterial blood pressure nucleus mitochondrion regulation of DNA repair mitotic G2 DNA damage checkpoint intrinsic apoptotic signaling pathway in response to DNA damage membrane integral component of membrane negative regulation of apoptotic process positive regulation of protein catabolic process negative regulation of glycolytic process regulation of nucleocytoplasmic transport negative regulation of inflammatory response negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway regulation of reactive oxygen species metabolic process regulation of response to DNA damage stimulus uc008cio.1 uc008cio.2 uc008cio.3 
ENSMUST00000003640.4 Fosb ENSMUST00000003640.4 FBJ osteosarcoma oncogene B, transcript variant 1 (from RefSeq NM_008036.2) A0A140LIE4 ENSMUST00000003640.1 ENSMUST00000003640.2 ENSMUST00000003640.3 FOSB_MOUSE Fosb NM_008036 P13346 uc009flk.1 uc009flk.2 uc009flk.3 Heterodimerizes with proteins of the JUN family to form an AP-1 transcription factor complex, thereby enhancing their DNA binding activity to gene promoters containing an AP-1 consensus sequence 5'- TGA[GC]TCA-3' and enhancing their transcriptional activity (PubMed:2498083, PubMed:1900040). As part of the AP-1 complex, facilitates enhancer selection together with cell-type-specific transcription factors by collaboratively binding to nucleosomal enhancers and recruiting the SWI/SNF (BAF) chromatin remodeling complex to establish accessible chromatin (PubMed:29272704). Together with JUN, plays a role in activation-induced cell death of T cells by binding to the AP-1 promoter site of FASLG/CD95L, and inducing its transcription in response to activation of the TCR/CD3 signaling pathway (By similarity). Exhibits transactivation activity in vitro (PubMed:17241283). Involved in the display of nurturing behavior towards newborns (PubMed:8706134). May play a role in neurogenesis in the hippocampus and in learning and memory-related tasks by regulating the expression of various genes involved in neurogenesis, depression and epilepsy (PubMed:23303048, PubMed:30902680). Implicated in behavioral responses related to morphine reward and spatial memory (PubMed:9294222, PubMed:18407360). [Isoform 2]: Exhibits lower transactivation activity than isoform 1 in vitro (PubMed:17241283). The heterodimer with JUN does not display any transcriptional activity, and may thereby act as an transcriptional inhibitor (PubMed:1900040). May be involved in the regulation of neurogenesis in the hippocampus (PubMed:23303048). May play a role in synaptic modifications in nucleus accumbens medium spiny neurons and thereby play a role in adaptive and pathological reward- dependent learning, including maladaptive responses involved in drug addiction (PubMed:23319622). Seems to be more stably expressed with a half-life of ~9.5 hours in cell culture as compared to 1.5 hours half- life of isoform 1 (PubMed:18407360). Heterodimer; binds to DNA as heterodimer (PubMed:2498083, PubMed:1900040). Component of an AP-1 transcription factor complex; composed of FOS-JUN heterodimers (PubMed:2498083, PubMed:1900040). As part of the AP-1 transcription factor complex, forms heterodimers with JUN, JUNB or JUND, thereby binding to the AP-1 consensus sequence and stimulating transcription (PubMed:2498083, PubMed:1900040). Interacts with the BAF multiprotein chromatin-remodeling complex subunits SMARCB1 and SMARCD1 (PubMed:29272704). Interacts with ARID1A and JUN (PubMed:29272704). [Isoform 2]: Homodimer under oxidizing conditions and monomer under reducing conditions (in vitro) (By similarity). Heterodimer; binds to DNA as heterodimer (PubMed:1900040). Forms heterodimers with JUNB, JUN or JUND; thereby binding to the AP-1 consensus sequence but does not stimulate transcription (PubMed:1900040). Forms heterodimers with JUND under oxidizing conditions (By similarity). Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P13346-1; Sequence=Displayed; Name=2; Synonyms=deltaFosB , FosB2 , FosB[short form] ; IsoId=P13346-2; Sequence=VSP_061375; Expressed in brain, including the preoptic area of the hypothalamus, the main and accessory olfactory bulbs, the pyriform cortex and the hippocampus (at protein level) (PubMed:8706134, PubMed:23303048). Expressed in the neurons of the subgranular zone of the dentate gyrus in the hippocampus (at protein level) (PubMed:23303048, PubMed:30902680). Expressed in pyramidal cells in CA1 and CA3, in the dentate gyrus and the nucleus accumbens of the striatum (at protein level) (PubMed:9294222, PubMed:26446228). [Isoform 2]: Expressed in the core and shell of the nucleus accumbens of the striatum (at protein level) (PubMed:20473292). Expressed in the neurons of the subgranular zone of the dentate gyrus in the hippocampus (at protein level) (PubMed:23303048). Induced by growth factors (PubMed:2498083). Up-regulated in the preoptic area of the hypothalamus after 6 hours of exposure to pups (PubMed:8706134). Induced by cocaine in the striatum (PubMed:9294222). Induced by kainic acid (PubMed:23303048). Induced in the hippocampus by novelty exposure and spatial learning (PubMed:26446228). [Isoform 1]: Induced by cocaine in the striatum. [Isoform 2]: Induced by cocaine in the striatum (PubMed:9294222). Induced by chronic social defeat stress, with resilient mice showing the greatest induction in both core and shell nucleus accumbens subregions (PubMed:20473292). Binds DNA via bZIP domain; DNA-binding is under control of cellular redox homeostasis (in vitro) (By similarity). To enable DNA binding, the bZIP domain must undergo a conformational rearrangement which requires the reduction of the interchain disulfide bond between FosB and JunD (in vitro) (By similarity). The bZIP domain is able to form homomeric oligomers via formation of interchain disulfide bonds under non-reducing conditions (in vitro) (By similarity). Under reducing conditions, the disulfide-bonded homomeric species dissociates into monomers (in vitro) (By similarity). Phosphorylated. [Isoform 2]: Phosphorylated at Ser-27 by CSNK2A1; phosphorylation increases protein stability and transactivation potential. Deficiency in the ability to nurture young animals and the majority of pups die within 1-2 days of birth (PubMed:8706134). Impaired nurturing behavior towards newborns is observed in postpartum mothers as well as in young females and males (PubMed:8706134). Failure in AP-1 binding activity after repeated cocaine administration (PubMed:9294222). Exaggerated locomotor activation in response to initial cocaine exposures as well as robust conditioned place preference to a lower dose of cocaine, but lack of increment in cocaine-induced hyperactivity over 6 days (i.e. sensitization) (PubMed:9294222). Decreased sensitivity to rewarding properties of morphine and spatial memory impairment (PubMed:18407360). Decreased proliferation and increased ectopic migration of neural progenitor cells in the hippocampus (PubMed:23303048). Exhibit impaired adult hippocampal neurogenesis and spontaneous epilepsy with depressive behavior (PubMed:23303048). Altered gene expression in the hippocampus, including genes implicated in neurogenesis, depression, or epilepsy (PubMed:23303048). Knockout in hippocampal neurons, including neurons of the subgranular zone of the dentate gyrus, leads to a reduction of antidepressant-induced neurogenesis and impedes hippocampus-dependent learning in the novel object recognition task (PubMed:30902680). Belongs to the bZIP family. Fos subfamily. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter female pregnancy response to mechanical stimulus response to progesterone cellular response to hormone stimulus response to drug intracellular membrane-bounded organelle response to morphine sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter response to corticosterone response to cAMP cellular response to calcium ion uc009flk.1 uc009flk.2 uc009flk.3 
ENSMUST00000003645.9 Ercc1 ENSMUST00000003645.9 excision repair cross-complementing rodent repair deficiency, complementation group 1, transcript variant 5 (from RefSeq NR_178193.1) ENSMUST00000003645.1 ENSMUST00000003645.2 ENSMUST00000003645.3 ENSMUST00000003645.4 ENSMUST00000003645.5 ENSMUST00000003645.6 ENSMUST00000003645.7 ENSMUST00000003645.8 ERCC1_MOUSE Ercc-1 NR_178193 P07903 Q91VP3 uc009flm.1 uc009flm.2 uc009flm.3 uc009flm.4 Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4 (By similarity). Heterodimer composed of ERCC1 and ERRC4/XPF (By similarity). Interacts with USP4 (By similarity). Nucleus Ubiquitinated with both 'Lys-48' and 'Lys-63' linkages. Deubiquitinated by USP45. Belongs to the ERCC1/RAD10/SWI10 family. single-stranded DNA endodeoxyribonuclease activity nucleotide-excision repair complex nucleotide-excision repair factor 1 complex meiotic mismatch repair pyrimidine dimer repair by nucleotide-excision repair nuclear chromosome, telomeric region TFIID-class transcription factor binding replicative cell aging DNA binding damaged DNA binding single-stranded DNA binding nuclease activity endonuclease activity protein binding nucleus nucleoplasm transcription factor TFIID complex cytosol DNA repair nucleotide-excision repair nucleotide-excision repair, DNA incision, 3'-to lesion nucleotide-excision repair, DNA incision, 5'-to lesion double-strand break repair double-strand break repair via nonhomologous end joining DNA recombination mitotic recombination syncytium formation cellular response to DNA damage stimulus response to oxidative stress germ cell development spermatogenesis response to nutrient protein C-terminus binding cell proliferation male gonad development UV protection response to sucrose response to X-ray multicellular organism aging hydrolase activity protein domain specific binding negative regulation of telomere maintenance post-embryonic hemopoiesis multicellular organism growth response to immobilization stress interstrand cross-link repair isotype switching response to cadmium ion cell development oogenesis embryonic organ development chromosome organization telomeric DNA-containing double minutes formation ERCC4-ERCC1 complex UV-damage excision repair t-circle formation positive regulation of t-circle formation negative regulation of protection from non-homologous end joining at telomere 3' overhang single-stranded DNA endodeoxyribonuclease activity uc009flm.1 uc009flm.2 uc009flm.3 uc009flm.4 
ENSMUST00000003655.9 As3mt ENSMUST00000003655.9 arsenite methyltransferase (from RefSeq NM_020577.3) A6H5W4 AS3MT_MOUSE Cyt19 E9QLU6 ENSMUST00000003655.1 ENSMUST00000003655.2 ENSMUST00000003655.3 ENSMUST00000003655.4 ENSMUST00000003655.5 ENSMUST00000003655.6 ENSMUST00000003655.7 ENSMUST00000003655.8 NM_020577 Q91WU5 Q9QZT1 uc008huc.1 uc008huc.2 uc008huc.3 Catalyzes the transfer of a methyl group from AdoMet to trivalent arsenicals producing methylated and dimethylated arsenicals. It methylates arsenite to form methylarsonate, Me-AsO(3)H(2), which is reduced by methylarsonate reductase to methylarsonite, Me-As(OH)2. Methylarsonite is also a substrate and it is converted into the much less toxic compound dimethylarsinate (cacodylate), Me(2)As(O)-OH. Reaction=[thioredoxin]-dithiol + arsenic triglutathione + 2 H2O + S- adenosyl-L-methionine = [thioredoxin]-disulfide + 3 glutathione + H(+) + methylarsonous acid + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:69460, Rhea:RHEA-COMP:10698, Rhea:RHEA-COMP:10700, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17826, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57856, ChEBI:CHEBI:57925, ChEBI:CHEBI:59789, ChEBI:CHEBI:183640; EC=2.1.1.137; Evidence=; Reaction=2 [thioredoxin]-dithiol + arsenic triglutathione + H2O + 2 S- adenosyl-L-methionine = 2 [thioredoxin]-disulfide + dimethylarsinous acid + 3 glutathione + 2 H(+) + 2 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:69464, Rhea:RHEA-COMP:10698, Rhea:RHEA-COMP:10700, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:23808, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57856, ChEBI:CHEBI:57925, ChEBI:CHEBI:59789, ChEBI:CHEBI:183640; EC=2.1.1.137; Evidence=; Reaction=3 [thioredoxin]-dithiol + arsenic triglutathione + 3 S- adenosyl-L-methionine = 3 [thioredoxin]-disulfide + 3 glutathione + 3 H(+) + 3 S-adenosyl-L-homocysteine + trimethylarsine; Xref=Rhea:RHEA:69432, Rhea:RHEA-COMP:10698, Rhea:RHEA-COMP:10700, ChEBI:CHEBI:15378, ChEBI:CHEBI:27130, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57856, ChEBI:CHEBI:57925, ChEBI:CHEBI:59789, ChEBI:CHEBI:183640; EC=2.1.1.137; Evidence=; Cytoplasm, cytosol Belongs to the methyltransferase superfamily. Arsenite methyltransferase family. cytoplasm mitochondrion cytosol methyltransferase activity toxin metabolic process transferase activity arsonoacetate metabolic process arsenite methyltransferase activity methylarsonite methyltransferase activity methylation response to arsenic-containing substance uc008huc.1 uc008huc.2 uc008huc.3 
ENSMUST00000003659.9 Comp ENSMUST00000003659.9 cartilage oligomeric matrix protein (from RefSeq NM_016685.2) COMP_MOUSE Comp ENSMUST00000003659.1 ENSMUST00000003659.2 ENSMUST00000003659.3 ENSMUST00000003659.4 ENSMUST00000003659.5 ENSMUST00000003659.6 ENSMUST00000003659.7 ENSMUST00000003659.8 G3X8Q4 NM_016685 Q9R0G6 uc009mad.1 uc009mad.2 uc009mad.3 uc009mad.4 Plays a role in the structural integrity of cartilage via its interaction with other extracellular matrix proteins such as the collagens and fibronectin (PubMed:32686688). Can mediate the interaction of chondrocytes with the cartilage extracellular matrix through interaction with cell surface integrin receptors. Could play a role in the pathogenesis of osteoarthritis. Potent suppressor of apoptosis in both primary chondrocytes and transformed cells. Suppresses apoptosis by blocking the activation of caspase-3 and by inducing the IAP family of survival proteins (BIRC3, BIRC2, BIRC5 and XIAP) (By similarity). Essential for maintaining a vascular smooth muscle cells (VSMCs) contractile/differentiated phenotype under physiological and pathological stimuli. Maintains this phenotype of VSMCs by interacting with ITGA7 (By similarity). Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Note=Binds 11-14 calcium ions per subunit. ; Pentamer; disulfide-linked. Exists in a more compact conformation in the presence of calcium and shows a more extended conformation in the absence of calcium. Interacts with ITGB3, ITGA5 and FN1. Binding to FN1 requires the presence of divalent cations (Ca(2+), Mg(2+) or Mn(2+)). The greatest amount of binding is seen in the presence of Mn(2+). Interacts with MATN1, MATN3, MATN4 and ACAN. Binds heparin, heparan sulfate and chondroitin sulfate. EDTA dimishes significantly its binding to ACAN and abolishes its binding to MATN3, MATN4 and chondroitin sulfate. Interacts with collagen I, II and IX, and interaction with these collagens is dependent on the presence of zinc ions. Interacts with ADAMTS12 (By similarity). Interacts with ITGA7 (By similarity). Q9R0G6; P58397: ADAMTS12; Xeno; NbExp=3; IntAct=EBI-9028018, EBI-9028051; Secreted, extracellular space, extracellular matrix Expressed in cartilage, including nasal, knee epiphyseal and rib tissues. Abundantly expressed in chondrocyte and tendon extracellular matrix (at protein level) (PubMed:32686688). In knee epiphyseal cartilage, expression is detected from 12.5 dpc onwards, with significant up-regulation at 16.5 dpc and again at postnatal day 5. Expressed at least until 10 months of age. The cell attachment motif mediates the attachment to chondrocytes. It mediates the induction of both the IAP family of survival proteins and the antiapoptotic response. The TSP C-terminal domain mediates interaction with FN1 and ACAN. Each of the eight TSP type-3 repeats binds two calcium ions. The TSP C-terminal domain binds three calcium ions. Belongs to the thrombospondin family. skeletal system development ossification fibronectin binding protease binding chondrocyte development endochondral bone growth growth plate cartilage development integrin binding extracellular matrix structural constituent vitamin D binding calcium ion binding protein binding collagen binding extracellular region extracellular space apoptotic process response to unfolded protein cell adhesion blood coagulation heparin binding protein secretion multicellular organism aging animal organ senescence regulation of gene expression vascular smooth muscle contraction protein processing collagen fibril organization bone mineralization regulation of bone mineralization BMP signaling pathway macromolecular complex multicellular organism growth chondrocyte proliferation tendon development BMP binding negative regulation of apoptotic process proteoglycan binding heparan sulfate proteoglycan binding skin development muscle fiber development artery morphogenesis musculoskeletal movement neuromuscular process cartilage development limb development bone morphogenesis platelet aggregation vascular smooth muscle cell development bone growth negative regulation of hemostasis positive regulation of chondrocyte proliferation uc009mad.1 uc009mad.2 uc009mad.3 uc009mad.4 
ENSMUST00000003677.11 Rnf215 ENSMUST00000003677.11 ring finger protein 215, transcript variant 1 (from RefSeq NM_027859.3) ENSMUST00000003677.1 ENSMUST00000003677.10 ENSMUST00000003677.2 ENSMUST00000003677.3 ENSMUST00000003677.4 ENSMUST00000003677.5 ENSMUST00000003677.6 ENSMUST00000003677.7 ENSMUST00000003677.8 ENSMUST00000003677.9 NM_027859 Q5SPX2 Q5SPX3 Q5SPX4 Q9DCW1 RN215_MOUSE uc007hui.1 uc007hui.2 uc007hui.3 uc007hui.4 Membrane ; Multi-pass membrane protein Sequence=CAI25741.1; Type=Erroneous gene model prediction; Evidence=; Sequence=CAI25743.1; Type=Erroneous gene model prediction; Evidence=; nucleus cytoplasm late endosome Golgi apparatus ubiquitin-dependent protein catabolic process membrane integral component of membrane protein ubiquitination metal ion binding response to misfolded protein ubiquitin protein ligase activity uc007hui.1 uc007hui.2 uc007hui.3 uc007hui.4 
ENSMUST00000003681.8 Sec14l2 ENSMUST00000003681.8 SEC14-like lipid binding 2 (from RefSeq NM_144520.2) ENSMUST00000003681.1 ENSMUST00000003681.2 ENSMUST00000003681.3 ENSMUST00000003681.4 ENSMUST00000003681.5 ENSMUST00000003681.6 ENSMUST00000003681.7 NM_144520 Q99J08 S14L2_MOUSE uc007huh.1 uc007huh.2 uc007huh.3 uc007huh.4 Carrier protein. Binds to some hydrophobic molecules and promotes their transfer between the different cellular sites. Binds with high affinity to alpha-tocopherol. Also binds with a weaker affinity to other tocopherols and to tocotrienols. May have a transcriptional activatory activity via its association with alpha- tocopherol. Probably recognizes and binds some squalene structure, suggesting that it may regulate cholesterol biosynthesis by increasing the transfer of squalene to a metabolic active pool in the cell (By similarity). Monomer. Cytoplasm Nucleus Note=Cytoplasmic in absence of alpha-tocopherol, and nuclear in presence of alpha-tocopherol. nucleus cytoplasm cytosol enzyme activator activity lipid binding transferase activity, transferring alkyl or aryl (other than methyl) groups positive regulation of cholesterol biosynthetic process uc007huh.1 uc007huh.2 uc007huh.3 uc007huh.4 
ENSMUST00000003687.8 Tgfb3 ENSMUST00000003687.8 transforming growth factor, beta 3 (from RefSeq NM_009368.3) ENSMUST00000003687.1 ENSMUST00000003687.2 ENSMUST00000003687.3 ENSMUST00000003687.4 ENSMUST00000003687.5 ENSMUST00000003687.6 ENSMUST00000003687.7 NM_009368 Q91YU7 Q91YU7_MOUSE Tgfb3 uc007ohn.1 uc007ohn.2 uc007ohn.3 uc007ohn.4 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Homozygous knockout mice for this gene exhibit cleft palate, delayed pulmonary development and neonatal death. [provided by RefSeq, Aug 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC108426.1, AK145304.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164138, SAMN01164142 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively. Homodimer; disulfide-linked. Secreted, extracellular space, extracellular matrix Belongs to the TGF-beta family. activation of MAPK activity response to hypoxia type II transforming growth factor beta receptor binding transforming growth factor beta receptor binding extracellular region extracellular space nucleus cytoplasm transforming growth factor beta receptor signaling pathway salivary gland morphogenesis female pregnancy aging growth factor activity positive regulation of cell proliferation negative regulation of cell proliferation cell surface positive regulation of epithelial to mesenchymal transition negative regulation of macrophage cytokine production secretory granule T-tubule positive regulation of bone mineralization negative regulation of transforming growth factor beta receptor signaling pathway response to progesterone positive regulation of collagen biosynthetic process response to laminar fluid shear stress type I transforming growth factor beta receptor binding type III transforming growth factor beta receptor binding wound healing identical protein binding neuronal cell body positive regulation of apoptotic process intracellular membrane-bounded organelle response to estrogen ossification involved in bone remodeling cell-cell junction organization positive regulation of transcription, DNA-templated protein heterodimerization activity digestive tract development embryonic neurocranium morphogenesis inner ear development transforming growth factor beta binding positive regulation of protein secretion positive regulation of stress fiber assembly positive regulation of cell division face morphogenesis frontal suture morphogenesis detection of hypoxia negative regulation of vascular smooth muscle cell proliferation positive regulation of occluding junction disassembly uc007ohn.1 uc007ohn.2 uc007ohn.3 uc007ohn.4 
ENSMUST00000003705.12 Aven ENSMUST00000003705.12 apoptosis, caspase activation inhibitor, transcript variant 1 (from RefSeq NM_028844.4) A2AGL4 AVEN_MOUSE ENSMUST00000003705.1 ENSMUST00000003705.10 ENSMUST00000003705.11 ENSMUST00000003705.2 ENSMUST00000003705.3 ENSMUST00000003705.4 ENSMUST00000003705.5 ENSMUST00000003705.6 ENSMUST00000003705.7 ENSMUST00000003705.8 ENSMUST00000003705.9 NM_028844 Q9D9K3 uc008lpe.1 uc008lpe.2 uc008lpe.3 uc008lpe.4 Protects against apoptosis mediated by Apaf-1. Binds Apaf-1, BCL-2 and BAD (Bcl-xl). Endomembrane system ; Peripheral membrane protein Note=Associated with intracellular membranes. molecular_function apoptotic process endomembrane system membrane negative regulation of apoptotic process uc008lpe.1 uc008lpe.2 uc008lpe.3 uc008lpe.4 
ENSMUST00000003717.13 Abcb4 ENSMUST00000003717.13 ATP-binding cassette, sub-family B member 4 (from RefSeq NM_008830.2) Abcb4 B9EK77 ENSMUST00000003717.1 ENSMUST00000003717.10 ENSMUST00000003717.11 ENSMUST00000003717.12 ENSMUST00000003717.2 ENSMUST00000003717.3 ENSMUST00000003717.4 ENSMUST00000003717.5 ENSMUST00000003717.6 ENSMUST00000003717.7 ENSMUST00000003717.8 ENSMUST00000003717.9 MDR3_MOUSE Mdr2 NM_008830 P21440 Pgy-2 Pgy2 Q6LCL9 uc008wkr.1 uc008wkr.2 uc008wkr.3 uc008wkr.4 Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi between hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity of bile salts (PubMed:8106172, PubMed:7912658, PubMed:7592705, PubMed:7814632, PubMed:8725158, PubMed:9366571). Plays a role in the recruitment of phosphatidylcholine (PC), phosphatidylethanolamine (PE) and sphingomyelin (SM) molecules to nonraft membranes and to further enrichment of SM and cholesterol in raft membranes in hepatocytes (By similarity). Required for proper phospholipid bile formation (PubMed:8106172). Indirectly involved in cholesterol efflux activity from hepatocytes into the canalicular lumen in the presence of bile salts in an ATP-dependent manner (PubMed:7814632, PubMed:8725158). May promote biliary phospholipid secretion as canaliculi-containing vesicles from the canalicular plasma membrane (PubMed:9366571). In cooperation with ATP8B1, functions to protect hepatocytes from the deleterious detergent activity of bile salts (PubMed:21820390). Does not confer multidrug resistance (PubMed:1990275). Reaction=ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.; EC=7.6.2.1; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine(in) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphocholine(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:66272, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57643, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:66273; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:36439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:64612, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36440; Evidence=; Reaction=a sphingomyelin(in) + ATP + H2O = a sphingomyelin(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:38903, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17636, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38904; Evidence=; Translocation activity is inhibited by the ATPase inhibitor vanadate and the calcium channel blocker verapamil (PubMed:7912658). Translocation activity is enhanced by the addition of the bile salt taurocholate (PubMed:7592705). May interact with RACK1. Interacts with HAX1. Cell membrane ulti-pass membrane protein Apical cell membrane ; Multi-pass membrane protein Membrane raft Cytoplasm Cytoplasmic vesicle, clathrin-coated vesicle Note=Transported from the Golgi to the apical bile canalicular membrane in a RACK1-dependent manner. Redistributed into pseudocanaliculi formed between cells in a bezafibrate- or PPARA-dependent manner (By similarity). Localized at the apical canalicular membrane of the epithelial cells lining the lumen of the bile canaliculi and biliary ductules (PubMed:1381362, PubMed:8106172, PubMed:8615769). Localized preferentially in lipid nonraft domains of canalicular plasma membranes (PubMed:23468132). Expressed in the liver (PubMed:1381362, PubMed:8615769) (at protein level). Expressed in adrenal, liver, muscle, spleen and heart (PubMed:2471060). Expressed in multidrug- resistant cell lines (PubMed:1969609). Up-regulated by compounds that cause peroxisome proliferation, such as ciprofibrate and clofibrate (at protein level) (PubMed:8615769). Up-regulated by compounds that cause peroxisome proliferation, such as fenofibrate, ciprofibrate, clofibrate, bezafibrate and gemfibrozil (PubMed:8615769, PubMed:12381268). Phosphorylated. Phosphorylation is required for PC efflux activity. Phosphorylation occurs on serine and threonine residues in a protein kinase A- or C-dependent manner. May be phosphorylated on Thr- 41 and Ser-46. Glycosylated. Mice show severe necrotic damage of hepatocytes, strong portal inflammation, proliferation and destruction of the canalicular and small bile ductular tracts (PubMed:8106172). Display almost complete reduction of biliary phospholipid secretion, although bile salt secretion is normal (PubMed:8106172, PubMed:7814632, PubMed:8725158, PubMed:9366571). Show also reduced cholesterol secretion (PubMed:8106172, PubMed:9366571). Knockout mice lacking both ABCB4 and ATP8B1 show lower hepatic damage compared with the single ABCB4 knockout mice (PubMed:21820390). Display equivalent reduction of biliary phosphatidylcholine (PC) secretion as the single ABCB4 knockout mice (PubMed:21820390). Biliary cholesterol secretion is higher compared to the single ABCB4 knockout mice (PubMed:21820390). Bile salt secretion is normal in both single ABCB4 knockout mice and double ABCB4 and ATP8B1 knockout mice (PubMed:21820390). Biliary excretion of canalicular ectoenzymes, aminopeptidase N and alkaline phosphatase is strongly reduced compared to single ATP8B1 knockout mice (PubMed:21820390). Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. Golgi membrane nucleotide binding ATP binding nucleoplasm cytoplasm cytosol plasma membrane focal adhesion lipid transport actin cytoskeleton membrane integral component of membrane apical plasma membrane ATPase activity clathrin-coated vesicle cytoplasmic vesicle positive regulation of cholesterol transport bile acid secretion ATPase activity, coupled to transmembrane movement of substances membrane raft phospholipid translocation intercellular canaliculus transmembrane transport lipid homeostasis positive regulation of phospholipid translocation phosphatidylcholine-translocating ATPase activity phosphatidylethanolamine-translocating ATPase activity ceramide-translocating ATPase activity ceramide translocation response to fenofibrate cellular response to bile acid positive regulation of phospholipid transport drug transmembrane transport uc008wkr.1 uc008wkr.2 uc008wkr.3 uc008wkr.4 
ENSMUST00000003720.5 Crot ENSMUST00000003720.5 carnitine O-octanoyltransferase, transcript variant 6 (from RefSeq NR_184637.1) Cot ENSMUST00000003720.1 ENSMUST00000003720.2 ENSMUST00000003720.3 ENSMUST00000003720.4 NR_184637 OCTC_MOUSE Q921I4 Q9DC50 uc008wkt.1 uc008wkt.2 uc008wkt.3 Beta-oxidation of fatty acids. The highest activity concerns the C6 to C10 chain length substrate. Reaction=(R)-carnitine + octanoyl-CoA = CoA + O-octanoyl-(R)-carnitine; Xref=Rhea:RHEA:17177, ChEBI:CHEBI:16347, ChEBI:CHEBI:18102, ChEBI:CHEBI:57287, ChEBI:CHEBI:57386; EC=2.3.1.137; Evidence=; Reaction=(R)-carnitine + 4,8-dimethylnonanoyl-CoA = CoA + O-4,8- dimethylnonanoyl-(R)-carnitine; Xref=Rhea:RHEA:44860, ChEBI:CHEBI:16347, ChEBI:CHEBI:57287, ChEBI:CHEBI:77061, ChEBI:CHEBI:84654; Evidence=; Lipid metabolism; fatty acid beta-oxidation. Peroxisome Belongs to the carnitine/choline acetyltransferase family. mitochondrion peroxisome generation of precursor metabolites and energy lipid metabolic process fatty acid metabolic process fatty acid beta-oxidation carnitine O-octanoyltransferase activity carnitine metabolic process fatty acid transport coenzyme A metabolic process transferase activity transferase activity, transferring acyl groups response to drug intracellular membrane-bounded organelle medium-chain fatty acid metabolic process uc008wkt.1 uc008wkt.2 uc008wkt.3 
ENSMUST00000003726.16 Brd4 ENSMUST00000003726.16 bromodomain containing 4, transcript variant 3 (from RefSeq NM_001286630.1) Brd4 ENSMUST00000003726.1 ENSMUST00000003726.10 ENSMUST00000003726.11 ENSMUST00000003726.12 ENSMUST00000003726.13 ENSMUST00000003726.14 ENSMUST00000003726.15 ENSMUST00000003726.2 ENSMUST00000003726.3 ENSMUST00000003726.4 ENSMUST00000003726.5 ENSMUST00000003726.6 ENSMUST00000003726.7 ENSMUST00000003726.8 ENSMUST00000003726.9 NM_001286630 Q3UH70 Q3UH70_MOUSE uc008bwb.1 uc008bwb.2 uc008bwb.3 uc008bwb.4 uc008bwb.5 This gene was temporarily named bromodomain-containing 5 (Brd5) and was renamed bromodomain-containing 4 (Brd4). [provided by RefSeq, Jul 2008]. Chromosome Nucleus regulation of transcription involved in G1/S transition of mitotic cell cycle condensed nuclear chromosome transcription factor activity, transcription factor recruiting p53 binding chromatin binding nucleus nucleoplasm cytosol protein phosphorylation RNA polymerase II carboxy-terminal domain kinase activity positive regulation of G2/M transition of mitotic cell cycle enzyme binding positive regulation of transcription elongation from RNA polymerase II promoter positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter regulation of inflammatory response lysine-acetylated histone binding RNA polymerase II C-terminal domain binding regulation of phosphorylation of RNA polymerase II C-terminal domain positive regulation of histone H3-K36 trimethylation uc008bwb.1 uc008bwb.2 uc008bwb.3 uc008bwb.4 uc008bwb.5 
ENSMUST00000003754.8 Calb2 ENSMUST00000003754.8 calbindin 2, transcript variant 1 (from RefSeq NM_007586.2) CALB2_MOUSE ENSMUST00000003754.1 ENSMUST00000003754.2 ENSMUST00000003754.3 ENSMUST00000003754.4 ENSMUST00000003754.5 ENSMUST00000003754.6 ENSMUST00000003754.7 NM_007586 Q08331 Q60964 Q9JM81 uc009nko.1 uc009nko.2 Calretinin is a calcium-binding protein which is abundant in auditory neurons. Belongs to the calbindin family. calcium ion binding nucleus cytoplasm cytosol gap junction dendrite stereocilium cuticular plate neuron projection synapse metal ion binding synaptic membrane presynapse regulation of presynaptic cytosolic calcium ion concentration calcium ion binding involved in regulation of presynaptic cytosolic calcium ion concentration regulation of long-term synaptic potentiation uc009nko.1 uc009nko.2 
ENSMUST00000003759.11 Ciao1 ENSMUST00000003759.11 cytosolic iron-sulfur protein assembly 1 (from RefSeq NM_025296.4) CIAO1_MOUSE Ciao1 ENSMUST00000003759.1 ENSMUST00000003759.10 ENSMUST00000003759.2 ENSMUST00000003759.3 ENSMUST00000003759.4 ENSMUST00000003759.5 ENSMUST00000003759.6 ENSMUST00000003759.7 ENSMUST00000003759.8 ENSMUST00000003759.9 NM_025296 Q99KN2 Q9DCZ7 Wdr39 uc008mfb.1 uc008mfb.2 uc008mfb.3 Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (By similarity). As a CIA complex component, interacts specifically with CIAO2A or CIAO2B and MMS19 to assist different branches of iron-sulfur protein assembly, depending of its interactors. The complex CIAO1:CIAO2B:MMS19 binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins. CIAO1:CIAO2A specifically matures ACO1 and stabilizes IREB2 (By similarity). Seems to specifically modulate the transactivation activity of WT1. As part of the mitotic spindle- associated MMXD complex it may play a role in chromosome segregation (By similarity). Component of the CIA complex. Interacts with CIAO2A and forms a complex with CIAO2B and MMS19; the interactions with CIAO2A and CIAO2B are mutually exclusive (PubMed:23891004) (By similarity). Interacts with CHD1L, ERCC2, IREB2 and POLD1 (By similarity). Component of the MMXD complex, which includes CIAO1, ERCC2, CIAO2B, MMS19 and SLC25A5. Interacts with WT1 (By similarity). Interacts with CIAO3 (By similarity). Interacts (via LYR motif) with HSC20. Cytoplasm Belongs to the WD repeat CIA1 family. transcription factor activity, sequence-specific DNA binding cytoplasm regulation of transcription from RNA polymerase II promoter chromosome segregation iron-sulfur cluster assembly MMXD complex CIA complex protein maturation by iron-sulfur cluster transfer uc008mfb.1 uc008mfb.2 uc008mfb.3 
ENSMUST00000003762.8 Has1 ENSMUST00000003762.8 hyaluronan synthase 1 (from RefSeq NM_008215.2) ENSMUST00000003762.1 ENSMUST00000003762.2 ENSMUST00000003762.3 ENSMUST00000003762.4 ENSMUST00000003762.5 ENSMUST00000003762.6 ENSMUST00000003762.7 HYAS1_MOUSE Has NM_008215 Q61647 uc008apr.1 uc008apr.2 uc008apr.3 uc008apr.4 Catalyzes the addition of GlcNAc or GlcUA monosaccharides to the nascent hyaluronan polymer. Therefore, it is essential to hyaluronan synthesis a major component of most extracellular matrices that has a structural role in tissues architectures and regulates cell adhesion, migration and differentiation. This is one of the isozymes catalyzing that reaction. Also able to catalyze the synthesis of chito- oligosaccharide depending on the substrate. Reaction=[hyaluronan](n) + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N- acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP; Xref=Rhea:RHEA:20465, Rhea:RHEA-COMP:12583, Rhea:RHEA-COMP:12585, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:132153, ChEBI:CHEBI:132154; EC=2.4.1.212; Evidence=; Reaction=N-acetyl-beta-D-glucosaminyl-(1->4)-[hyaluronan](n) + UDP- alpha-D-glucuronate = [hyaluronan](n+1) + H(+) + UDP; Xref=Rhea:RHEA:12528, Rhea:RHEA-COMP:12585, Rhea:RHEA-COMP:12587, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132153, ChEBI:CHEBI:132154; EC=2.4.1.212; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Kinetic parameters: KM=0.8 mM for UDP-Glc-NAc (at pH 7.1 and 37 degrees Celsius, in the presence of 15 mM MgCl2) ; KM=0.7 mM for UDP-Glc-UA (at pH 7.1 and 37 degrees Celsius, in the presence of 15 mM MgCl2) ; Glycan biosynthesis; hyaluronan biosynthesis. Membrane ; Multi-pass membrane protein Belongs to the NodC/HAS family. cytoplasm integral component of plasma membrane negative regulation of fibroblast migration membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups hyaluronan biosynthetic process cellular response to platelet-derived growth factor stimulus identical protein binding estrous cycle extracellular polysaccharide biosynthetic process hyaluronan synthase activity extracellular matrix assembly uc008apr.1 uc008apr.2 uc008apr.3 uc008apr.4 
ENSMUST00000003826.8 Htr3a ENSMUST00000003826.8 5-hydroxytryptamine (serotonin) receptor 3A, transcript variant 1 (from RefSeq NM_013561.2) 5HT3A_MOUSE 5ht3 E9QLC0 ENSMUST00000003826.1 ENSMUST00000003826.2 ENSMUST00000003826.3 ENSMUST00000003826.4 ENSMUST00000003826.5 ENSMUST00000003826.6 ENSMUST00000003826.7 Htr3 Htr3a NM_013561 P23979 Q61225 Q61226 uc009pip.1 uc009pip.2 uc009pip.3 Forms serotonin (5-hydroxytryptamine/5-HT3)-activated cation- selective channel complexes, which when activated cause fast, depolarizing responses in neurons. Reaction=Na(+)(in) = Na(+)(out); Xref=Rhea:RHEA:34963, ChEBI:CHEBI:29101; Evidence=; Reaction=K(+)(in) = K(+)(out); Xref=Rhea:RHEA:29463, ChEBI:CHEBI:29103; Evidence=; Reaction=Ca(2+)(in) = Ca(2+)(out); Xref=Rhea:RHEA:29671, ChEBI:CHEBI:29108; Evidence=; Reaction=Mg(2+)(in) = Mg(2+)(out); Xref=Rhea:RHEA:29827, ChEBI:CHEBI:18420; Evidence=; Forms homopentameric as well as heteropentameric serotonin- activated cation-selective channel complexes with HTR3B or HTR3C or HTR3D or HTR3E. The homomeric complex is functional but exhibits low conductance with modified voltage dependence, and decreased agonist and antagonist affinity. Heteropentameric complexes display properties which resemble that of neuronal serotonin-activated channels in vivo. Interacts with RIC3. P23979; P23979: Htr3a; NbExp=2; IntAct=EBI-11295097, EBI-11295097; P23979-1; P23979-1: Htr3a; NbExp=7; IntAct=EBI-15824923, EBI-15824923; Postsynaptic cell membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=5-HT3R-A; IsoId=P23979-1; Sequence=Displayed; Name=5-HT3R-AS; IsoId=P23979-2; Sequence=VSP_000079; Brain, spinal cord, and heart. The HA-stretch region of HTR3A seems to be responsible for the low conductance of HTR3A homomers compared to that of HTR3A/HTR3B heteromers. Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3A sub- subfamily. transmembrane signaling receptor activity ion channel activity extracellular ligand-gated ion channel activity cytoplasm plasma membrane integral component of plasma membrane ion transport signal transduction serotonin receptor signaling pathway chemical synaptic transmission ligand-gated ion channel activity membrane integral component of membrane serotonin-gated cation channel activity cell junction axon cleavage furrow positive regulation of ion transmembrane transporter activity ion transmembrane transport regulation of membrane potential identical protein binding neuron projection neuronal cell body synapse postsynaptic membrane neurological system process serotonin binding glutamatergic synapse integral component of postsynaptic membrane integral component of presynaptic membrane serotonin-activated cation-selective channel complex uc009pip.1 uc009pip.2 uc009pip.3 
ENSMUST00000003843.16 Man1a ENSMUST00000003843.16 mannosidase 1, alpha (from RefSeq NM_008548.5) ENSMUST00000003843.1 ENSMUST00000003843.10 ENSMUST00000003843.11 ENSMUST00000003843.12 ENSMUST00000003843.13 ENSMUST00000003843.14 ENSMUST00000003843.15 ENSMUST00000003843.2 ENSMUST00000003843.3 ENSMUST00000003843.4 ENSMUST00000003843.5 ENSMUST00000003843.6 ENSMUST00000003843.7 ENSMUST00000003843.8 ENSMUST00000003843.9 Man1a NM_008548 Q544T7 Q544T7_MOUSE uc007fbw.1 uc007fbw.2 uc007fbw.3 Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence= Protein modification; protein glycosylation. Belongs to the glycosyl hydrolase 47 family. catalytic activity mannosyl-oligosaccharide 1,2-alpha-mannosidase activity calcium ion binding endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus cytosol metabolic process membrane integral component of membrane hydrolase activity hydrolase activity, acting on glycosyl bonds uc007fbw.1 uc007fbw.2 uc007fbw.3 
ENSMUST00000003850.8 Itpkc ENSMUST00000003850.8 inositol 1,4,5-trisphosphate 3-kinase C (from RefSeq NM_181593.3) ENSMUST00000003850.1 ENSMUST00000003850.2 ENSMUST00000003850.3 ENSMUST00000003850.4 ENSMUST00000003850.5 ENSMUST00000003850.6 ENSMUST00000003850.7 IP3KC_MOUSE NM_181593 Q3U384 Q7TS72 uc009fvk.1 uc009fvk.2 uc009fvk.3 Catalyzes the phosphorylation of 1D-myo-inositol 1,4,5- trisphosphate (InsP3) into 1D-myo-inositol 1,3,4,5-tetrakisphosphate and participates to the regulation of calcium homeostasis (By similarity). Can phosphorylate inositol 2,4,5-triphosphate to inositol 2,4,5,6-tetraphosphate (By similarity). Reaction=1D-myo-inositol 1,4,5-trisphosphate + ATP = 1D-myo-inositol 1,3,4,5-tetrakisphosphate + ADP + H(+); Xref=Rhea:RHEA:11020, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57895, ChEBI:CHEBI:203600, ChEBI:CHEBI:456216; EC=2.7.1.127; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11021; Evidence=; Activated by calcium/calmodulin. Inhibited by high concentrations of the substrate Ins(1,2,4)P3, and allosterically activated by the product Ins(1,3,4,5)P4. Q7TS72; O54824: Il16; NbExp=3; IntAct=EBI-648015, EBI-641708; Nucleus Cytoplasm Note=Shuttles actively between nucleus and cytoplasm with both nuclear import and nuclear export activity. Belongs to the inositol phosphokinase (IPK) family. nucleotide binding protein binding calmodulin binding ATP binding nucleus cytoplasm inositol-1,4,5-trisphosphate 3-kinase activity kinase activity phosphorylation nuclear speck transferase activity inositol phosphate biosynthetic process uc009fvk.1 uc009fvk.2 uc009fvk.3 
ENSMUST00000003857.7 Shkbp1 ENSMUST00000003857.7 Sh3kbp1 binding protein 1 (from RefSeq NM_138676.2) ENSMUST00000003857.1 ENSMUST00000003857.2 ENSMUST00000003857.3 ENSMUST00000003857.4 ENSMUST00000003857.5 ENSMUST00000003857.6 NM_138676 Q3TUN8 Q6P7W2 Q9ES31 SHKB1_MOUSE Sb1 uc009fvw.1 uc009fvw.2 uc009fvw.3 Inhibits CBL-SH3KBP1 complex mediated down-regulation of EGFR signaling by sequestration of SH3KBP1. Binds to SH3KBP1 and prevents its interaction with CBL and inhibits translocation of SH3KBP1 to EGFR containing vesicles upon EGF stimulation (PubMed:21830225). Monomer (By similarity). Interacts with CUL3; interaction is direct and forms a 5:5 heterodecamer (By similarity). Interacts (via PXXXPR motifs) with SH3KBP1 (via SH3 domains) (PubMed:11152963, PubMed:21830225). Directly interacts with cathepsin B/CTSB (By similarity). Q6P7W2; Q9JJ40: Pdzk1; Xeno; NbExp=7; IntAct=EBI-7713890, EBI-7713572; Lysosome Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6P7W2-1; Sequence=Displayed; Name=2; IsoId=Q6P7W2-2; Sequence=VSP_028875, VSP_028876; Belongs to the KCTD3 family. protein binding cellular_component lysosome positive regulation of epidermal growth factor receptor signaling pathway protein homooligomerization uc009fvw.1 uc009fvw.2 uc009fvw.3 
ENSMUST00000003860.13 Coq8b ENSMUST00000003860.13 coenzyme Q8B (from RefSeq NM_133770.2) Adck4 Coq8b E9QLB8 E9QLB8_MOUSE ENSMUST00000003860.1 ENSMUST00000003860.10 ENSMUST00000003860.11 ENSMUST00000003860.12 ENSMUST00000003860.2 ENSMUST00000003860.3 ENSMUST00000003860.4 ENSMUST00000003860.5 ENSMUST00000003860.6 ENSMUST00000003860.7 ENSMUST00000003860.8 ENSMUST00000003860.9 NM_133770 uc009fvm.1 uc009fvm.2 uc009fvm.3 Belongs to the protein kinase superfamily. ADCK protein kinase family. mitochondrion ubiquinone biosynthetic process cerebellar Purkinje cell layer morphogenesis uc009fvm.1 uc009fvm.2 uc009fvm.3 
ENSMUST00000003876.10 Brd8 ENSMUST00000003876.10 bromodomain containing 8, transcript variant 1 (from RefSeq NM_030147.3) BRD8_MOUSE ENSMUST00000003876.1 ENSMUST00000003876.2 ENSMUST00000003876.3 ENSMUST00000003876.4 ENSMUST00000003876.5 ENSMUST00000003876.6 ENSMUST00000003876.7 ENSMUST00000003876.8 ENSMUST00000003876.9 NM_030147 Q3TSZ2 Q8C049 Q8R3B7 Q8R583 Q8VDP0 uc008ekv.1 uc008ekv.2 uc008ekv.3 uc008ekv.4 May act as a coactivator during transcriptional activation by hormone-activated nuclear receptors (NR). Stimulates transcriptional activation by AR/DHTR, ESR1/NR3A1, RXRA/NR2B1 and THRB/ERBA2. Component of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage. Component of a SWR1-like complex that specifically mediates the removal of histone H2A.Z/H2AZ1 from the nucleosome. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. BRD8 isoform 2 interacts with RXRA/NR2B1 and THRB/ERBA2. Component of a SWR1-like complex (By similarity). Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8R3B7-1; Sequence=Displayed; Name=2; IsoId=Q8R3B7-2; Sequence=VSP_038218; Sequence=AAH23160.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence=; Sequence=AAH25644.1; Type=Erroneous initiation; Evidence=; Sequence=BAC27812.1; Type=Erroneous initiation; Evidence=; Swr1 complex molecular_function nucleus nucleoplasm mitochondrion chromatin organization NuA4 histone acetyltransferase complex regulation of growth histone H4 acetylation histone H2A acetylation positive regulation of transcription from RNA polymerase II promoter uc008ekv.1 uc008ekv.2 uc008ekv.3 uc008ekv.4 
ENSMUST00000003898.12 Ece2 ENSMUST00000003898.12 endothelin converting enzyme 2, transcript variant 4 (from RefSeq NM_139293.2) B2RQR8 E9Q896 ECE2_MOUSE ENSMUST00000003898.1 ENSMUST00000003898.10 ENSMUST00000003898.11 ENSMUST00000003898.2 ENSMUST00000003898.3 ENSMUST00000003898.4 ENSMUST00000003898.5 ENSMUST00000003898.6 ENSMUST00000003898.7 ENSMUST00000003898.8 ENSMUST00000003898.9 Ece2 NM_139293 uc007yqm.1 uc007yqm.2 uc007yqm.3 Converts big endothelin-1 to endothelin-1. Also involved in the processing of various neuroendocrine peptides, including neurotensin, angiotensin I, substance P, proenkephalin-derived peptides, and prodynorphin-derived peptides (By similarity). May play a role in amyloid-beta processing (PubMed:12464614). Reaction=Hydrolysis of the 21-Trp-|-Val-22 bond in big endothelin to form endothelin 1.; EC=3.4.24.71; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Golgi apparatus membrane ; Single-pass type II membrane protein Cytoplasmic vesicle, secretory vesicle membrane Event=Alternative splicing; Named isoforms=4; Name=Ece2-1; IsoId=B2RQR8-1; Sequence=Displayed; Name=Ece2-2; IsoId=B2RQR8-2; Sequence=VSP_059326; Name=Eef1akmt4-Ece2-1; Synonyms=ECE-2a-1; IsoId=P0DPD9-1, Q80Z60-1; Sequence=External; Name=Eef1akmt4-Ece2-2; Synonyms=ECE-2a-2; IsoId=P0DPD9-2, Q80Z60-2; Sequence=External; Eef1akmt4-Ece2 and Ece2 double mutant mice are fertile and healthy, and do not display any abnormality in terms of growth or aging. Belongs to the peptidase M13 family. Golgi membrane metalloendopeptidase activity Golgi apparatus trans-Golgi network proteolysis peptidase activity metallopeptidase activity membrane integral component of membrane peptide hormone processing hydrolase activity transport vesicle membrane cytoplasmic vesicle membrane cytoplasmic vesicle metal ion binding uc007yqm.1 uc007yqm.2 uc007yqm.3 
ENSMUST00000003906.13 Farsa ENSMUST00000003906.13 phenylalanyl-tRNA synthetase, alpha subunit, transcript variant 1 (from RefSeq NM_025648.3) ENSMUST00000003906.1 ENSMUST00000003906.10 ENSMUST00000003906.11 ENSMUST00000003906.12 ENSMUST00000003906.2 ENSMUST00000003906.3 ENSMUST00000003906.4 ENSMUST00000003906.5 ENSMUST00000003906.6 ENSMUST00000003906.7 ENSMUST00000003906.8 ENSMUST00000003906.9 Farsla NM_025648 Q3U3Q9 Q8C0C7 Q91WR4 Q922S1 SYFA_MOUSE uc009mnu.1 uc009mnu.2 uc009mnu.3 uc009mnu.4 Reaction=ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe); Xref=Rhea:RHEA:19413, Rhea:RHEA-COMP:9668, Rhea:RHEA-COMP:9699, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58095, ChEBI:CHEBI:78442, ChEBI:CHEBI:78531, ChEBI:CHEBI:456215; EC=6.1.1.20; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Heterotetramer; dimer of two heterodimers formed by FARSA and FARSB. Cytoplasm Belongs to the class-II aminoacyl-tRNA synthetase family. Phe-tRNA synthetase alpha subunit type 2 subfamily. tRNA binding nucleotide binding aminoacyl-tRNA ligase activity phenylalanine-tRNA ligase activity ATP binding cytoplasm cytosol translation phenylalanyl-tRNA aminoacylation phenylalanine-tRNA ligase complex ligase activity tRNA aminoacylation protein heterotetramerization uc009mnu.1 uc009mnu.2 uc009mnu.3 uc009mnu.4 
ENSMUST00000003910.13 Dnase2a ENSMUST00000003910.13 deoxyribonuclease II alpha, transcript variant 1 (from RefSeq NM_010062.4) Dnase2a ENSMUST00000003910.1 ENSMUST00000003910.10 ENSMUST00000003910.11 ENSMUST00000003910.12 ENSMUST00000003910.2 ENSMUST00000003910.3 ENSMUST00000003910.4 ENSMUST00000003910.5 ENSMUST00000003910.6 ENSMUST00000003910.7 ENSMUST00000003910.8 ENSMUST00000003910.9 NM_010062 Q3UM14 Q3UM14_MOUSE uc009moa.1 uc009moa.2 uc009moa.3 Reaction=Endonucleolytic cleavage to nucleoside 3'-phosphates and 3'- phosphooligonucleotide end-products.; EC=3.1.22.1; Evidence=; Belongs to the DNase II family. endodeoxyribonuclease activity deoxyribonuclease II activity DNA metabolic process uc009moa.1 uc009moa.2 uc009moa.3 
ENSMUST00000003911.13 Rad23a ENSMUST00000003911.13 RAD23 homolog A, nucleotide excision repair protein, transcript variant 2 (from RefSeq NM_009010.6) ENSMUST00000003911.1 ENSMUST00000003911.10 ENSMUST00000003911.11 ENSMUST00000003911.12 ENSMUST00000003911.2 ENSMUST00000003911.3 ENSMUST00000003911.4 ENSMUST00000003911.5 ENSMUST00000003911.6 ENSMUST00000003911.7 ENSMUST00000003911.8 ENSMUST00000003911.9 NM_009010 Q8CAP3 Q8CAP3_MOUSE Rad23a uc009mnk.1 uc009mnk.2 uc009mnk.3 uc009mnk.4 Multiubiquitin chain receptor involved in modulation of proteasomal degradation. Involved in nucleotide excision repair. Nucleus Cytoplasm Belongs to the RAD23 family. damaged DNA binding nucleus nucleotide-excision repair proteasome-mediated ubiquitin-dependent protein catabolic process uc009mnk.1 uc009mnk.2 uc009mnk.3 uc009mnk.4 
ENSMUST00000003912.7 Calr ENSMUST00000003912.7 calreticulin (from RefSeq NM_007591.3) CALR_MOUSE ENSMUST00000003912.1 ENSMUST00000003912.2 ENSMUST00000003912.3 ENSMUST00000003912.4 ENSMUST00000003912.5 ENSMUST00000003912.6 NM_007591 P14211 Q3TVD2 uc009mnp.1 uc009mnp.2 uc009mnp.3 Calcium-binding chaperone that promotes folding, oligomeric assembly and quality control in the endoplasmic reticulum (ER) via the calreticulin/calnexin cycle. This lectin interacts transiently with almost all of the monoglucosylated glycoproteins that are synthesized in the ER (PubMed:20880849, PubMed:21652723). Interacts with the DNA- binding domain of NR3C1 and mediates its nuclear export (By similarity). Involved in maternal gene expression regulation. May participate in oocyte maturation via the regulation of calcium homeostasis (By similarity). Present in the cortical granules of non- activated oocytes, is exocytosed during the cortical reaction in response to oocyte activation and might participate in the block to polyspermy (By similarity). Monomer. Interacts with GABARAP, NR3C1, PDIA3/ERp57 and TRIM21. Interacts (via P-domain) with PDIA5 (By similarity). Interacts with PPIB (PubMed:20801878). Interacts with SPACA9 (PubMed:24256100). Component of an EIF2 complex at least composed of CELF1/CUGBP1, CALR, CALR3, EIF2S1, EIF2S2, HSP90B1 and HSPA5 (PubMed:16931514). Interacts with CLCC1 (By similarity). P14211; P12023: App; NbExp=4; IntAct=EBI-644340, EBI-78814; P14211; P57716: Ncstn; NbExp=2; IntAct=EBI-644340, EBI-998934; P14211; P49769: Psen1; NbExp=3; IntAct=EBI-644340, EBI-990067; Endoplasmic reticulum lumen Cytoplasm, cytosol Cytolytic granule Secreted, extracellular space, extracellular matrix Cell surface Sarcoplasmic reticulum lumen Cytoplasmic vesicle, secretory vesicle, Cortical granule. Note=Also found in cell surface (T cells), cytosol and extracellular matrix. During oocyte maturation and after parthenogenetic activation accumulates in cortical granules. In pronuclear and early cleaved embryos localizes weakly to cytoplasm around nucleus and more strongly in the region near the cortex (By similarity). In cortical granules of non-activated oocytes, is exocytosed during the cortical reaction in response to oocyte activation (By similarity). Can be divided into a N-terminal globular domain, a proline- rich P-domain forming an elongated arm-like structure and a C-terminal acidic domain. The P-domain binds one molecule of calcium with high affinity, whereas the acidic C-domain binds multiple calcium ions with low affinity (By similarity). The interaction with glycans occurs through a binding site in the globular lectin domain. The zinc binding sites are localized to the N-domain. Associates with PDIA3 through the tip of the extended arm formed by the P-domain. Belongs to the calreticulin family. negative regulation of transcription from RNA polymerase II promoter acrosomal vesicle peptide antigen assembly with MHC class I protein complex mRNA binding integrin binding iron ion binding calcium ion binding protein binding extracellular region extracellular space nucleus nuclear envelope cytoplasm endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane smooth endoplasmic reticulum Golgi apparatus cytosol polysome protein folding protein export from nucleus spermatogenesis positive regulation of cell proliferation external side of plasma membrane cell surface response to organic substance positive regulation of endothelial cell migration positive regulation of gene expression membrane sarcoplasmic reticulum negative regulation of translation carbohydrate binding cortical actin cytoskeleton organization endoplasmic reticulum unfolded protein response ubiquitin protein ligase binding response to estradiol macromolecular complex sarcoplasmic reticulum lumen negative regulation of intracellular steroid hormone receptor signaling pathway response to testosterone protein localization to nucleus regulation of meiotic nuclear division peptide binding response to drug hormone binding MHC class I peptide loading complex intracellular membrane-bounded organelle endoplasmic reticulum quality control compartment phagocytic vesicle negative regulation of neuron differentiation positive regulation of cell cycle negative regulation of transcription, DNA-templated metal ion binding negative regulation of retinoic acid receptor signaling pathway perinuclear region of cytoplasm androgen receptor binding positive regulation of phagocytosis protein stabilization unfolded protein binding cardiac muscle cell differentiation negative regulation of cell cycle arrest cellular response to lithium ion cellular response to organic substance cellular senescence positive regulation of substrate adhesion-dependent cell spreading negative regulation of trophoblast cell migration positive regulation of NIK/NF-kappaB signaling positive regulation of dendritic cell chemotaxis uc009mnp.1 uc009mnp.2 uc009mnp.3 
ENSMUST00000003946.9 Nob1 ENSMUST00000003946.9 NIN1/RPN12 binding protein 1 homolog (from RefSeq NM_026277.3) ENSMUST00000003946.1 ENSMUST00000003946.2 ENSMUST00000003946.3 ENSMUST00000003946.4 ENSMUST00000003946.5 ENSMUST00000003946.6 ENSMUST00000003946.7 ENSMUST00000003946.8 NM_026277 NOB1_MOUSE Q7TPR3 Q8BW10 Q9CRD7 uc009nhr.1 uc009nhr.2 uc009nhr.3 May play a role in mRNA degradation (By similarity). Endonuclease required for processing of 20S pre-rRNA precursor and biogenesis of 40S ribosomal subunits (By similarity). May interact with UPF2 (Probable). Component of the small ribosomal subunit, ribosomal RNA processing complex (SSU RRP complex) (By similarity). Nucleus Belongs to the NOB1 family. cleavage involved in rRNA processing endoribonuclease activity nucleus nucleolus cytoplasm visual perception maturation of SSU-rRNA preribosome, small subunit precursor ribosomal small subunit biogenesis metal ion binding RNA phosphodiester bond hydrolysis, endonucleolytic uc009nhr.1 uc009nhr.2 uc009nhr.3 
ENSMUST00000003947.9 Nqo1 ENSMUST00000003947.9 NAD(P)H dehydrogenase, quinone 1 (from RefSeq NM_008706.5) Dia4 ENSMUST00000003947.1 ENSMUST00000003947.2 ENSMUST00000003947.3 ENSMUST00000003947.4 ENSMUST00000003947.5 ENSMUST00000003947.6 ENSMUST00000003947.7 ENSMUST00000003947.8 NM_008706 NQO1_MOUSE Nmo1 Nmor1 Q64669 uc009nhq.1 uc009nhq.2 uc009nhq.3 Flavin-containing quinone reductase that catalyzes two- electron reduction of quinones to hydroquinones using either NADH or NADPH as electron donors. In a ping-pong kinetic mechanism, the electrons are sequentially transferred from NAD(P)H to flavin cofactor and then from reduced flavin to the quinone, bypassing the formation of semiquinone and reactive oxygen species (PubMed:8999809) (By similarity). Regulates cellular redox state primarily through quinone detoxification. Reduces components of plasma membrane redox system such as coenzyme Q and vitamin quinones, producing antioxidant hydroquinone forms. In the process may function as superoxide scavenger to prevent hydroquinone oxidation and facilitate excretion (By similarity). Alternatively, can activate quinones and their derivatives by generating redox reactive hydroquinones with DNA cross-linking antitumor potential (By similarity). Acts as a gatekeeper of the core 20S proteasome known to degrade proteins with unstructured regions. Upon oxidative stress, interacts with tumor suppressors TP53 and TP73 in a NADH-dependent way and inhibits their ubiquitin-independent degradation by the 20S proteasome (By similarity). Reaction=a quinone + H(+) + NADH = a quinol + NAD(+); Xref=Rhea:RHEA:46160, ChEBI:CHEBI:15378, ChEBI:CHEBI:24646, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:132124; EC=1.6.5.2; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46161; Evidence=; Reaction=a quinone + H(+) + NADPH = a quinol + NADP(+); Xref=Rhea:RHEA:46164, ChEBI:CHEBI:15378, ChEBI:CHEBI:24646, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:132124; EC=1.6.5.2; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46165; Evidence=; Reaction=H(+) + NADH + ubiquinone-10 = NAD(+) + ubiquinol-10; Xref=Rhea:RHEA:61984, ChEBI:CHEBI:15378, ChEBI:CHEBI:46245, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:64183; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61985; Evidence=; Reaction=H(+) + menadione + NADH = menadiol + NAD(+); Xref=Rhea:RHEA:69695, ChEBI:CHEBI:6746, ChEBI:CHEBI:15378, ChEBI:CHEBI:28869, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:69696; Evidence=; Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Kinetic parameters: KM=4.3 uM for menadione ; KM=210 uM for NADH ; KM=1280 uM for 5-(aziridin-1-yl)-2,4-dinitrobenzamide ; Vmax=1800 umol/min/mg enzyme toward menadione ; Vmax=20 nmol/min/mg enzyme toward 5-(aziridin-1-yl)-2,4- dinitrobenzamide ; Homodimer (PubMed:10706635). Interacts with PDLIM4 isoform 2; this interaction stabilizes PDLIM4 isoform 2 in response to oxidative stress and protects it from ubiquitin-independent degradation by the core 20S proteasome (By similarity). Interacts with TP73 (via SAM domain); this interaction is NADH-dependent, stabilizes TP73 in response to oxidative stress and protects it from ubiquitin-independent degradation by the 20S proteasome (By similarity). Interacts with TP53; this interaction is NADH-dependent, stabilizes TP53 in response to oxidative stress and protects it from ubiquitin-independent degradation by the 20S proteasome (By similarity). Cytoplasm, cytosol By polycyclic hydrocarbons such as dioxin (Governed by the aromatic hydrocarbon-responsive (AH) locus). Belongs to the NAD(P)H dehydrogenase (quinone) family. NAD(P)H dehydrogenase (quinone) activity superoxide dismutase activity cytoplasm cytosol superoxide metabolic process response to oxidative stress aging response to nutrient electron carrier activity response to organic cyclic compound oxidoreductase activity removal of superoxide radicals electron transport chain dendrite response to estradiol identical protein binding neuronal cell body negative regulation of apoptotic process negative regulation of catalytic activity positive regulation of neuron apoptotic process response to ethanol response to electrical stimulus oxidation-reduction process cellular response to hydrogen peroxide cellular response to metal ion response to nitrogen compound response to hydrogen sulfide uc009nhq.1 uc009nhq.2 uc009nhq.3 
ENSMUST00000003961.16 Ppfia3 ENSMUST00000003961.16 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (from RefSeq NM_029741.2) B8QI35 ENSMUST00000003961.1 ENSMUST00000003961.10 ENSMUST00000003961.11 ENSMUST00000003961.12 ENSMUST00000003961.13 ENSMUST00000003961.14 ENSMUST00000003961.15 ENSMUST00000003961.2 ENSMUST00000003961.3 ENSMUST00000003961.4 ENSMUST00000003961.5 ENSMUST00000003961.6 ENSMUST00000003961.7 ENSMUST00000003961.8 ENSMUST00000003961.9 LIPA3_MOUSE NM_029741 P60469 uc012fki.1 uc012fki.2 uc012fki.3 May regulate the disassembly of focal adhesions. May localize receptor-like tyrosine phosphatases type 2A at specific sites on the plasma membrane, possibly regulating their interaction with the extracellular environment and their association with substrates. Forms homodimers and heterodimers with liprins-alpha and liprins-beta. Interacts with the second PTPase domain of PTPRD, PTPRF and PTPRS. Binds RIMS1, RIMS2, RIMS3 and RIMS4. Cytoplasm Cytoplasmic vesicle, secretory vesicle, acrosome Note=Also detected in epididymosome. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P60469-1; Sequence=Displayed; Name=2; IsoId=P60469-2; Sequence=VSP_057923; Detected in sperm (at protein level). The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type alpha/alpha. The C-terminal, non-coiled coil regions mediate heterodimerization type alpha/beta and interaction with PTPRD, PTPRF and PTPRS. Belongs to the liprin family. Liprin-alpha subfamily. acrosomal vesicle molecular_function cytoplasm neurotransmitter secretion synaptic vesicle exocytosis synaptic vesicle docking cytoplasmic vesicle synapse regulation of short-term neuronal synaptic plasticity presynaptic active zone presynaptic active zone cytoplasmic component epididymosome glutamatergic synapse uc012fki.1 uc012fki.2 uc012fki.3 
ENSMUST00000003964.17 Gys1 ENSMUST00000003964.17 glycogen synthase 1, muscle (from RefSeq NM_030678.3) ENSMUST00000003964.1 ENSMUST00000003964.10 ENSMUST00000003964.11 ENSMUST00000003964.12 ENSMUST00000003964.13 ENSMUST00000003964.14 ENSMUST00000003964.15 ENSMUST00000003964.16 ENSMUST00000003964.2 ENSMUST00000003964.3 ENSMUST00000003964.4 ENSMUST00000003964.5 ENSMUST00000003964.6 ENSMUST00000003964.7 ENSMUST00000003964.8 ENSMUST00000003964.9 GYS1_MOUSE Gys Gys3 NM_030678 P54859 Q3TBN4 Q8BQG4 Q8VEB0 Q9Z1E4 uc009gve.1 uc009gve.2 uc009gve.3 Glycogen synthase participates in the glycogen biosynthetic process along with glycogenin and glycogen branching enzyme. Extends the primer composed of a few glucose units formed by glycogenin by adding new glucose units to it. In this context, glycogen synthase transfers the glycosyl residue from UDP-Glc to the non-reducing end of alpha-1,4-glucan. Reaction=[(1->4)-alpha-D-glucosyl](n) + UDP-alpha-D-glucose = [(1->4)- alpha-D-glucosyl](n+1) + H(+) + UDP; Xref=Rhea:RHEA:18549, Rhea:RHEA- COMP:9584, Rhea:RHEA-COMP:9587, ChEBI:CHEBI:15378, ChEBI:CHEBI:15444, ChEBI:CHEBI:58223, ChEBI:CHEBI:58885; EC=2.4.1.11; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:18550; Evidence=; Allosteric activation by glucose-6-phosphate. Phosphorylation reduces the activity towards UDP-glucose. When in the non-phosphorylated state, glycogen synthase does not require glucose-6- phosphate as an allosteric activator; when phosphorylated it does (By similarity). Glycan biosynthesis; glycogen biosynthesis. Part of the GYS1-GYG1 complex, a heterooctamer composed of a tetramer of GYS1 and 2 dimers of GYG1, where each GYS1 protomer binds to one GYG1 subunit (via GYG1 C-terminus); the GYS1 tetramer may dissociate from GYG1 dimers to continue glycogen polymerization on its own. Primed phosphorylation at Ser-657 (site 5) by CSNK2A1 and CSNK2A2 is required for inhibitory phosphorylation at Ser-641 (site 3a), Ser- 645 (site 3b), Ser-649 (site 3c) and Ser-653 (site 4) by GSK3A an GSK3B. Phosphorylated at Ser-641 by PASK, leading to inactivation; phosphorylation by PASK is inhibited by glycogen. Phosphorylated at Ser-641 by DYRK2, leading to inactivation. Dephosphorylation at Ser-641 and Ser-645 by PP1 activates the enzyme (By similarity). Phosphorylation at Ser-8 by AMPK inactivates the enzyme activity. Belongs to the glycosyltransferase 3 family. catalytic activity glycogen (starch) synthase activity protein binding glucose binding cytoplasm glycogen metabolic process glycogen biosynthetic process heart development metabolic process inclusion body transferase activity transferase activity, transferring glycosyl groups protein kinase binding glycogen synthase activity, transferring glucose-1-phosphate uc009gve.1 uc009gve.2 uc009gve.3 
ENSMUST00000003971.10 Lin7b ENSMUST00000003971.10 lin-7 homolog B, crumbs cell polarity complex component (from RefSeq NM_011698.1) ENSMUST00000003971.1 ENSMUST00000003971.2 ENSMUST00000003971.3 ENSMUST00000003971.4 ENSMUST00000003971.5 ENSMUST00000003971.6 ENSMUST00000003971.7 ENSMUST00000003971.8 ENSMUST00000003971.9 LIN7B_MOUSE Mals2 NM_011698 O88951 Veli2 uc009guv.1 uc009guv.2 uc009guv.3 Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (PubMed:10846156). This complex may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells. May increase the amplitude of ASIC3 acid-evoked currents by stabilizing the channel at the cell surface. Forms a complex with CASK and CASKIN1 (By similarity). Component of the brain-specific heterotrimeric complex (LIN-10-LIN-2- LIN-7 complex) composed of at least APBA1, CASK, and LIN7, which associates with the motor protein KIF17 to transport vesicles along microtubules (PubMed:10846156). Forms a heterotrimeric complex composed of MMP5, LIN7B and PATJ; the N-terminal L27 domain of PALS1 interacts with the L27 domain of PATJ and the C-terminal L27 domain of PALS1 interacts with the L27 domain of LIN7B (PubMed:22337881). Forms a heterotrimeric complex with DLG1 and CASK via their L27 domains (PubMed:22337881, PubMed:15863617). Interacts with DLG4 and GRIN2B as well as CDH1 and CTNNB1, the channels KCNJ12/Kir2.2, KCNJ4/Kir2.3 and probably KCNJ2/Kir2.1 and SLC6A12/BGT-1 via its PDZ domain (By similarity). The association of LIN7A with cadherin and beta-catenin is calcium-dependent, occurs at synaptic junctions and requires the actin cytoskeleton. Interacts with EGFR, ERBB2, ERBB3 and ERBB4 with both PDZ and KID domains (By similarity). Associates with KIF17 via APBA1 (By similarity). Interacts with ASIC3 (PubMed:15317815). Interacts with TOPK. Interacts with RTKN (By similarity). Interacts with APBA1 (PubMed:15863617). Interacts with MPP7 (By similarity). Interacts with DLG2 (PubMed:9753324). Interacts with DLG3 (PubMed:9753324). Cell membrane ; Peripheral membrane protein Basolateral cell membrane ; Peripheral membrane protein Cell junction Postsynaptic density membrane ; Peripheral membrane protein Cell junction, tight junction Note=Mainly basolateral in renal epithelial cells. Expressed in the kidney; predominantly in the vasa recta. The kinase interacting site is required for proper delivery of ERBB2 to the basolateral membrane. The PDZ domain regulates endocytosis and recycling of the receptor at the membrane. The L27 domain mediates interaction with CASK and is involved in the formation of multimeric complexes and the association of LIN7 to membranes. Belongs to the lin-7 family. protein binding plasma membrane cell-cell junction bicellular tight junction exocytosis neurotransmitter secretion postsynaptic density protein transport membrane basolateral plasma membrane protein domain specific binding cell junction PDZ domain binding neuron projection maintenance of epithelial cell apical/basal polarity synapse postsynaptic membrane L27 domain binding MPP7-DLG1-LIN7 complex presynapse protein localization to basolateral plasma membrane uc009guv.1 uc009guv.2 uc009guv.3 
ENSMUST00000003981.6 Il7r ENSMUST00000003981.6 interleukin 7 receptor, transcript variant 2 (from RefSeq NM_008372.4) ENSMUST00000003981.1 ENSMUST00000003981.2 ENSMUST00000003981.3 ENSMUST00000003981.4 ENSMUST00000003981.5 IL7RA_MOUSE NM_008372 P16872 Q9R0C1 uc007vfo.1 uc007vfo.2 uc007vfo.3 uc007vfo.4 Interleukin-7 is a glycoptorein involved in the regulation of lymphopoiesis. Response of cells to IL7 is dependent on the presence of the interleukin 7 receptor (IL7R); the active receptor is a alpha/gamma chain heterodimer. The gamma(c) chain, which also associates with the interleukin-2 receptor, serves primarily to activate signal transduction by the IL7R complex, while the alpha chain of IL7R determines specific signaling events through its association with cytoplasmic signaling molecules. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M29697.1, AK042264.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Receptor for interleukin-7. Also acts as a receptor for thymic stromal lymphopoietin (TSLP). The IL7 receptor is a heterodimer of IL7R and IL2RG. The TSLP receptor is a heterodimer of CRLF2 and IL7R. Membrane; Single-pass type I membrane protein. Spleen, thymus and fetal liver. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding. The box 1 motif is required for JAK interaction and/or activation. N-glycosylated IL-7Ralpha binds IL7 300-fold more tightly than the unglycosylated form. Belongs to the type I cytokine receptor family. Type 4 subfamily. cell morphogenesis negative regulation of T cell mediated cytotoxicity immunoglobulin production cytokine receptor activity plasma membrane positive regulation of cell proliferation regulation of cell size external side of plasma membrane positive regulation of gene expression membrane integral component of membrane cytokine-mediated signaling pathway T cell differentiation positive regulation of T cell differentiation in thymus B cell proliferation lymph node development homeostasis of number of cells negative regulation of T cell apoptotic process positive regulation of STAT cascade uc007vfo.1 uc007vfo.2 uc007vfo.3 uc007vfo.4 
ENSMUST00000004036.6 Efnb3 ENSMUST00000004036.6 ephrin B3 (from RefSeq NM_007911.5) ENSMUST00000004036.1 ENSMUST00000004036.2 ENSMUST00000004036.3 ENSMUST00000004036.4 ENSMUST00000004036.5 Efnb3 NM_007911 Q543Q7 Q543Q7_MOUSE RP23-56I20.5-001 uc007jqi.1 uc007jqi.2 uc007jqi.3 uc007jqi.4 Belongs to the ephrin family. Lacks conserved residue(s) required for the propagation of feature annotation. plasma membrane membrane integral component of membrane ephrin receptor binding ephrin receptor signaling pathway glutamatergic synapse integral component of postsynaptic density membrane uc007jqi.1 uc007jqi.2 uc007jqi.3 uc007jqi.4 
ENSMUST00000004050.7 Mmd ENSMUST00000004050.7 monocyte to macrophage differentiation-associated, transcript variant 1 (from RefSeq NM_026178.2) ENSMUST00000004050.1 ENSMUST00000004050.2 ENSMUST00000004050.3 ENSMUST00000004050.4 ENSMUST00000004050.5 ENSMUST00000004050.6 Mmd NM_026178 PAQRB_MOUSE Paqr11 Q3TAU1 Q5SVU7 Q9CQY7 uc007kwp.1 uc007kwp.2 uc007kwp.3 Involved in the dynamics of lysosomal membranes associated with microglial activation following brain lesion. Late endosome membrane ; Multi-pass membrane protein Lysosome membrane ; Multi- pass membrane protein Belongs to the ADIPOR family. Sequence=CAI24626.1; Type=Erroneous gene model prediction; Evidence=; protein kinase activity lysosome lysosomal membrane endosome Golgi apparatus protein phosphorylation membrane integral component of membrane cytolysis late endosome membrane regulation of protein localization positive regulation of neuron differentiation positive regulation of protein kinase activity uc007kwp.1 uc007kwp.2 uc007kwp.3 
ENSMUST00000004051.8 Hlf ENSMUST00000004051.8 hepatic leukemia factor, transcript variant 1 (from RefSeq NM_172563.4) ENSMUST00000004051.1 ENSMUST00000004051.2 ENSMUST00000004051.3 ENSMUST00000004051.4 ENSMUST00000004051.5 ENSMUST00000004051.6 ENSMUST00000004051.7 HLF_MOUSE NM_172563 Q6PF83 Q8BW74 uc007kws.1 uc007kws.2 uc007kws.3 Binds DNA specifically as homodimer or heterodimer with other PAR factors. Nucleus Accumulates according to a robust circadian rhythm. Displays only a moderate amplitude in the liver (1.6-fold) and none in the brain. Mice deficient for all three PAR bZIP proteins (DBP, HLF and TEF) display a dramatically shortened life span and are highly susceptible to generalized spontaneous and audiogenic epilepsies (due for example to the noise of a vacuum cleaner) that are frequently lethal. The down-regulation of pyridoxal kinase (Pdxk) expression in these mice may participate in this seizure phenotype. Belongs to the bZIP family. PAR subfamily. Sequence=AAH57693.1; Type=Erroneous initiation; Evidence=; RNA polymerase II regulatory region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter skeletal muscle cell differentiation sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter rhythmic process uc007kws.1 uc007kws.2 uc007kws.3 
ENSMUST00000004054.13 Kpna1 ENSMUST00000004054.13 karyopherin subunit alpha 1, transcript variant 1 (from RefSeq NM_008465.6) ENSMUST00000004054.1 ENSMUST00000004054.10 ENSMUST00000004054.11 ENSMUST00000004054.12 ENSMUST00000004054.2 ENSMUST00000004054.3 ENSMUST00000004054.4 ENSMUST00000004054.5 ENSMUST00000004054.6 ENSMUST00000004054.7 ENSMUST00000004054.8 ENSMUST00000004054.9 IMA5_MOUSE NM_008465 Q3TF32 Q60960 Rch2 uc007zcb.1 uc007zcb.2 uc007zcb.3 Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1 (PubMed:8631802). Binds specifically and directly to substrates containing either a simple or bipartite NLS motif (PubMed:8631802). Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism (PubMed:8631802). At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin (PubMed:8631802). The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (PubMed:8631802). Heterodimer; with KPNB1 (By similarity). Interacts with NSMF; the interaction occurs in a calcium-independent manner after synaptic NMDA receptor stimulation and is required for nuclear import of NSMF but is competed by CABP1 (By similarity). Interacts with APEX1 (via its N-terminus) (By similarity). Interacts with CTNNBL1 (via its N- terminal) (By similarity). Interacts with AICDA (via its NLS) (By similarity). Interacts with ANP32E (PubMed:10692581). Interacts with ZIC3 (PubMed:18716025). Interacts with SNAI1 (via zinc fingers) (By similarity). Interacts with DCAF8 (By similarity). Interacts with ITSN1 isoform 2 (PubMed:29599122). Interacts with TALDO1 isoform 1 (PubMed:27703206). Interacts with the AMPK-mediated 'Ser-659' phosphorylated form of ACSS2; this interaction results in nuclear translocation of ACSS2 (By similarity). Q60960; Q15637: SF1; Xeno; NbExp=3; IntAct=EBI-8573008, EBI-744603; Cytoplasm Nucleus Low levels in all tissues examined. Consists of an N-terminal hydrophilic region, a hydrophobic central region composed of 10 repeats, and a short hydrophilic C- terminus. The N-terminal hydrophilic region contains the importin beta binding domain (IBB domain), which is sufficient for binding importin beta and essential for nuclear protein import. The IBB domain is thought to act as an intrasteric autoregulatory sequence by interacting with the internal autoinhibitory NLS. Binding of KPNB1 probably overlaps the internal NLS and contributes to a high affinity for cytoplasmic NLS-containing cargo substrates. After dissociation of the importin/substrate complex in the nucleus the internal autohibitory NLS contributes to a low affinity for nuclear NLS-containing proteins (By similarity). The major and minor NLS binding sites are mainly involved in recognition of simple or bipartite NLS motifs. Structurally located within in a helical surface groove they contain several conserved Trp and Asn residues of the corresponding third helices (H3) of ARM repeats which mainly contribute to binding (By similarity). Polyubiquitinated in the presence of RAG1 (in vitro). Belongs to the importin alpha family. protein binding nucleus nuclear pore nucleoplasm cytoplasm cytosol protein import into nucleus NLS-bearing protein import into nucleus nuclear localization sequence binding postsynaptic density protein transport dendrite nuclear import signal receptor activity glutamatergic synapse postsynapse to nucleus signaling pathway uc007zcb.1 uc007zcb.2 uc007zcb.3 
ENSMUST00000004055.10 Dzip1 ENSMUST00000004055.10 DAZ interacting protein 1, transcript variant 1 (from RefSeq NM_025943.3) DZIP1_MOUSE Dzip1 ENSMUST00000004055.1 ENSMUST00000004055.2 ENSMUST00000004055.3 ENSMUST00000004055.4 ENSMUST00000004055.5 ENSMUST00000004055.6 ENSMUST00000004055.7 ENSMUST00000004055.8 ENSMUST00000004055.9 Kiaa0996 NM_025943 Q4QQM0 Q6ZQ10 Q8BMD2 Q9CRK5 uc007uza.1 uc007uza.2 uc007uza.3 uc007uza.4 This gene encodes a zinc finger protein that has been demonstrated to interact with the deleted in azoospermia (DAZ) protein. DAZ plays an important role early in germ cell development to maintain the initial germ cell population. Deletion of this gene in mice compromises Hedgehog signaling during embryogenesis. Mouse embryos lacking the encoded protein show severe developmental defects with dorsalized neural tubes and underdeveloped somites. Alternative splicing of this gene results in multiple transcript variants. A pseudogene for this gene has been identified on chromosome 5. [provided by RefSeq, Jan 2015]. Molecular adapter that recruits protein complexes required for cilium assembly and function to the cilium basal body (PubMed:23955340, PubMed:25860027, PubMed:31118289, PubMed:32051257). At the exit of mitosis, localizes to the basal body and ciliary base of the forming primary cilium where it recruits and activates RAB8A to direct vesicle-mediated transport of proteins to the cilium (PubMed:25860027). Also recruits the BBSome, a complex involved in cilium biogenesis, by bridging it to PCM1 at the centriolar satellites of the cilium (PubMed:27979967). It is also required for the recruitment to the cilium basal body of the intraflagellar transport (IFT) machinery as well as the ciliary appendage proteins CEP164 and NINEIN (PubMed:23955340). Functions as a regulator of Hedgehog signaling both through its role in cilium assembly but also probably through its ability to retain GLI3 within the cytoplasm (PubMed:23955340). It is involved in spermatogenesis through its role in organization of the basal body and assembly of the sperm flagellum (PubMed:32051257). Also indirectly involved in heart development through its function in ciliogenesis (PubMed:31118289). Interacts with DAZ1 (By similarity). Interacts with the BBSome; recruits the BBSome to centriolar satellites of the cilium (PubMed:27979967). Interacts with PCM1; localizes DZIP1 and the associated BBSome to centriolar satellites (PubMed:27979967). Interacts with RAB8A (GDP-bound inactive form); recruits RAB8A to the basal body of the cilium and prevents its inhibition by GDI2 (PubMed:25860027). Interacts with GDI2; negatively regulates the interaction of GDI2 with GDP-bound RAB8A (PubMed:25860027). Interacts with GLI3; retains GLI3 within the cytoplasm (PubMed:23955340). Interacts with CEP164 (PubMed:23955340). Interacts with IFT88 (PubMed:23955340). Q8BMD2; Q61598: Gdi2; NbExp=2; IntAct=EBI-7089968, EBI-6665490; Q8BMD2; P55258: Rab8a; NbExp=2; IntAct=EBI-7089968, EBI-398411; Q8BMD2; P50395: GDI2; Xeno; NbExp=2; IntAct=EBI-7089968, EBI-1049143; Q8BMD2-1; P50395: GDI2; Xeno; NbExp=3; IntAct=EBI-16153101, EBI-1049143; Q8BMD2-1; P49841-2: GSK3B; Xeno; NbExp=3; IntAct=EBI-16153101, EBI-15870655; Q8BMD2-1; P61007: RAB8A; Xeno; NbExp=3; IntAct=EBI-16153101, EBI-7473289; Cytoplasm, cytoskeleton, cilium basal body toplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole Nucleus Nucleus speckle Cytoplasm Note=Localizes to the centriole in cells lacking cilia and to the cilium basal body in ciliated cells (By similarity). At the exit of mitosis, when the primary cilium is reassembled in daughter cells, localizes at the mother centriole that acts as the basal body of the assembling primary cilium and also accumulates at the ciliary base that constitutes a diffusion barrier for ciliary proteins (PubMed:25860027). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8BMD2-1; Sequence=Displayed; Name=2; IsoId=Q8BMD2-2; Sequence=VSP_010967, VSP_010968, VSP_010969; Name=3; IsoId=Q8BMD2-3; Sequence=VSP_010966; Expressed in testis and undifferentiated ES cells. Phosphorylation at Ser-210 by PLK1 before mitosis prevents interaction with PCM1 and localization to centriolar satellites. Thereby, it negatively regulates the localization of the BBSome to centriolar satellites (PubMed:27979967). Undergoes postmitotic phosphorylation at Ser-520 by GSK3B. That phosphorylated form of DZIP1 interacts with GDI2, disrupting its interaction with RAB8A, leading to RAB8A activation and localization to the cilium where it mediates protein transport and participates to cilium biogenesis (PubMed:25860027). Male animals were all infertile. Few spermatozoa were collected from the epididymides of the mutant, and no motile spermatozoa were seen. Light microscopy of the mutant spermatozoa showed severe morphologic abnormalities, primarily absent flagella as well as residual cytoplasm and abnormal heads. Belongs to the DZIP C2H2-type zinc-finger protein family. Sequence=BAC98066.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; nucleic acid binding protein binding nucleus nucleoplasm cytoplasm centriole microtubule organizing center cytosol cytoskeleton cilium smoothened signaling pathway multicellular organism development germ cell development spermatogenesis cell differentiation ciliary basal body cell projection regulation of protein binding cilium organization establishment of protein localization positive regulation of cilium assembly metal ion binding cytoplasmic sequestering of protein cilium assembly protein localization to cilium ciliary transition fiber uc007uza.1 uc007uza.2 uc007uza.3 uc007uza.4 
ENSMUST00000004057.9 Fam162a ENSMUST00000004057.9 family with sequence similarity 162, member A (from RefSeq NM_027342.2) E2ig5 ENSMUST00000004057.1 ENSMUST00000004057.2 ENSMUST00000004057.3 ENSMUST00000004057.4 ENSMUST00000004057.5 ENSMUST00000004057.6 ENSMUST00000004057.7 ENSMUST00000004057.8 F162A_MOUSE NM_027342 Q9D6U8 uc007zcd.1 uc007zcd.2 uc007zcd.3 Proposed to be involved in regulation of apoptosis; the exact mechanism may differ between cell types/tissues (PubMed:15082785). May be involved in hypoxia-induced cell death of transformed cells implicating cytochrome C release and caspase activation (such as CASP9) and inducing mitochondrial permeability transition (PubMed:15082785). May be involved in hypoxia-induced cell death of neuronal cells probably by promoting release of AIFM1 from mitochondria to cytoplasm and its translocation to the nucleus; however, the involvement of caspases has been reported conflictingly (PubMed:17316997). Interacts with HSP90AB1; HSP90AB1 is essential for FAM162A mitochondrial localization and pro-apoptotic activity (By similarity). Interacts with VDAC2; the interaction is probably involved in inducing mitochondrial permeability transition (By similarity). Mitochondrion membrane ; Single-pass membrane protein Induced by hypoxia. Belongs to the UPF0389 family. molecular_function mitochondrion cytosol apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process membrane integral component of membrane positive regulation of apoptotic process neuron apoptotic process cellular response to hypoxia positive regulation of release of cytochrome c from mitochondria uc007zcd.1 uc007zcd.2 uc007zcd.3 
ENSMUST00000004072.10 Rpl8 ENSMUST00000004072.10 ribosomal protein L8 (from RefSeq NM_012053.2) ENSMUST00000004072.1 ENSMUST00000004072.2 ENSMUST00000004072.3 ENSMUST00000004072.4 ENSMUST00000004072.5 ENSMUST00000004072.6 ENSMUST00000004072.7 ENSMUST00000004072.8 ENSMUST00000004072.9 NM_012053 P25120 P62918 Q3V288 RL8_MOUSE uc007wmt.1 uc007wmt.2 uc007wmt.3 uc007wmt.4 Component of the large ribosomal subunit (PubMed:36517592). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:36517592). Component of the large ribosomal subunit (PubMed:36517592). Interacts with CRY1 (PubMed:19129230). Cytoplasm Hydroxylated on His-216 by RIOX1. The modification is impaired by hypoxia. Belongs to the universal ribosomal protein uL2 family. cytoplasmic translation RNA binding structural constituent of ribosome protein binding cytoplasm ribosome translation postsynaptic density large ribosomal subunit rRNA binding cytosolic large ribosomal subunit polysomal ribosome synapse postsynapse uc007wmt.1 uc007wmt.2 uc007wmt.3 uc007wmt.4 
ENSMUST00000004076.5 Grm3 ENSMUST00000004076.5 glutamate receptor, metabotropic 3, transcript variant 1 (from RefSeq NM_181850.3) ENSMUST00000004076.1 ENSMUST00000004076.2 ENSMUST00000004076.3 ENSMUST00000004076.4 GRM3_MOUSE Gprc1c Mglur3 NM_181850 Q14DJ9 Q9QYS2 uc008wll.1 uc008wll.2 uc008wll.3 G-protein coupled receptor for glutamate. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors. Signaling inhibits adenylate cyclase activity. Interacts with TAMALIN. Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 3 family. group II metabotropic glutamate receptor activity G-protein coupled receptor activity calcium channel regulator activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway G-protein coupled glutamate receptor signaling pathway glutamate receptor activity postsynaptic density membrane integral component of membrane sensory perception of pain axon synaptic transmission, glutamatergic presynaptic membrane neuron projection dendritic spine postsynaptic membrane presynaptic active zone modulation of synaptic transmission regulation of sensory perception of pain regulation of synaptic transmission, glutamatergic astrocyte projection glutamatergic synapse integral component of postsynaptic membrane integral component of presynaptic membrane uc008wll.1 uc008wll.2 uc008wll.3 
ENSMUST00000004094.15 Ssbp2 ENSMUST00000004094.15 single-stranded DNA binding protein 2, transcript variant 2 (from RefSeq NM_024272.5) B1B188 ENSMUST00000004094.1 ENSMUST00000004094.10 ENSMUST00000004094.11 ENSMUST00000004094.12 ENSMUST00000004094.13 ENSMUST00000004094.14 ENSMUST00000004094.2 ENSMUST00000004094.3 ENSMUST00000004094.4 ENSMUST00000004094.5 ENSMUST00000004094.6 ENSMUST00000004094.7 ENSMUST00000004094.8 ENSMUST00000004094.9 NM_024272 Q99LX9 Q9CYZ8 SSBP2_MOUSE Ssdp2 uc007rjv.1 uc007rjv.2 uc007rjv.3 uc007rjv.4 Q9CYZ8; Q9WUH2: Lhx9; NbExp=3; IntAct=EBI-309962, EBI-309943; Q9CYZ8; Q60769: Tnfaip3; NbExp=2; IntAct=EBI-309962, EBI-646595; Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CYZ8-1; Sequence=Displayed; Name=2; IsoId=Q9CYZ8-2; Sequence=VSP_006259; DNA binding single-stranded DNA binding protein binding nucleus cytoplasm positive regulation of transcription from RNA polymerase II promoter uc007rjv.1 uc007rjv.2 uc007rjv.3 uc007rjv.4 
ENSMUST00000004120.9 Fancl ENSMUST00000004120.9 Fanconi anemia, complementation group L, transcript variant 3 (from RefSeq NR_102382.1) ENSMUST00000004120.1 ENSMUST00000004120.2 ENSMUST00000004120.3 ENSMUST00000004120.4 ENSMUST00000004120.5 ENSMUST00000004120.6 ENSMUST00000004120.7 ENSMUST00000004120.8 FANCL_MOUSE NR_102382 Phf9 Pog Q3TGY2 Q9CR14 Q9D017 uc007ige.1 uc007ige.2 uc007ige.3 uc007ige.4 This gene encodes the complementation group L subunit of the multimeric Fanconi anemia (FA) nuclear complex composed of proteins encoded by over ten Fanconi anemia complementation (FANC) group genes. The FA complex is necessary for protection against DNA damage. This gene product, an E3 ubiquitin ligase, catalyzes and is required for the monoubiquitination of the protein encoded by the Fanconi anemia, complementation group D2 gene, a critical step in the FA pathway (PMID: 12973351, 21229326). In mouse, mutations of this E3 ubiquitin ligase gene can lead to infertility in adult males and females, and a deletion of this gene can cause embryonic lethality in some genetic backgrounds. A pseudogene of this gene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]. Ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth. Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Protein modification; protein ubiquitination. Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM (By similarity). In complex with FANCF, FANCA and FANCG, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. Interacts with FANCI (By similarity). Interacts with GGN. Interacts (via the RING-type zinc finger) with UBE2T and UBE2W. Cytoplasm Nucleus Note=In the nucleus, colocalizes with UBE2W. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CR14-1; Sequence=Displayed; Name=2; IsoId=Q9CR14-2; Sequence=VSP_008552; The UBC-RWD region (URD) region mediates interaction with FANCI and FANCD2. The RING-type zinc finger domain is monoubiquitinated in the presence of UBE2T and UBE2W. Note=Defects in Fancl are a cause of the gcd (germ cell deficient) mutant phenotype, which leads to reduced numbers of precursor germ cells and adult sterility, probably due to a reduced precursor germ cells proliferation. Despite its name, it does not contain a PHD-type zinc finger, but contains a RING-type zinc finger. Moreover, PHD-type zinc fingers do not have any ubiquitin ligase activity. ubiquitin-protein transferase activity protein binding nucleus nuclear envelope cytoplasm DNA repair protein monoubiquitination cellular response to DNA damage stimulus gamete generation protein ubiquitination nuclear body transferase activity ubiquitin protein ligase binding interstrand cross-link repair regulation of cell proliferation intracellular membrane-bounded organelle Fanconi anaemia nuclear complex metal ion binding ubiquitin protein ligase activity uc007ige.1 uc007ige.2 uc007ige.3 uc007ige.4 
ENSMUST00000004133.11 Brinp2 ENSMUST00000004133.11 bone morphogenic protein/retinoic acid inducible neural-specific 2 (from RefSeq NM_207583.2) BRNP2_MOUSE ENSMUST00000004133.1 ENSMUST00000004133.10 ENSMUST00000004133.2 ENSMUST00000004133.3 ENSMUST00000004133.4 ENSMUST00000004133.5 ENSMUST00000004133.6 ENSMUST00000004133.7 ENSMUST00000004133.8 ENSMUST00000004133.9 Fam5b Kiaa1747 NM_207583 Q6DFY8 Q80T96 uc007ddq.1 uc007ddq.2 uc007ddq.3 uc007ddq.4 Inhibits neuronal cell proliferation by negative regulation of the cell cycle transition. Secreted Weakly expressed in embryonic stem (ES) cells. Strongly expressed in ES-derived neural stem cells (NSCs). Up-regulated upon differentiation into neuronal cells in the presence of retinoic acid and BDNF. Down-regulated upon differentiation into astroglial cells. Belongs to the BRINP family. Sequence=BAC65831.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; molecular_function extracellular region endoplasmic reticulum cell cycle cell cycle arrest dendrite neuronal cell body positive regulation of neuron differentiation negative regulation of cell cycle negative regulation of mitotic cell cycle cellular response to retinoic acid uc007ddq.1 uc007ddq.2 uc007ddq.3 uc007ddq.4 
ENSMUST00000004134.11 Gstm5 ENSMUST00000004134.11 glutathione S-transferase, mu 5 (from RefSeq NM_010360.3) ENSMUST00000004134.1 ENSMUST00000004134.10 ENSMUST00000004134.2 ENSMUST00000004134.3 ENSMUST00000004134.4 ENSMUST00000004134.5 ENSMUST00000004134.6 ENSMUST00000004134.7 ENSMUST00000004134.8 ENSMUST00000004134.9 Fsc2 GSTM5_MOUSE Gstm3 NM_010360 P48774 Q545W5 uc008qxs.1 uc008qxs.2 uc008qxs.3 Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Reaction=glutathione + RX = a halide anion + an S-substituted glutathione + H(+); Xref=Rhea:RHEA:16437, ChEBI:CHEBI:15378, ChEBI:CHEBI:16042, ChEBI:CHEBI:17792, ChEBI:CHEBI:57925, ChEBI:CHEBI:90779; EC=2.5.1.18; Homodimer (By similarity). Interacts with PFKM isoform 2 and isoform 3 (via N-terminal testis-specific region) (PubMed:19889946). Cytoplasm. Belongs to the GST superfamily. Mu family. glutathione transferase activity protein binding cytoplasm cytosol glutathione metabolic process transferase activity nitrobenzene metabolic process enzyme binding sperm fibrous sheath xenobiotic catabolic process identical protein binding protein homodimerization activity glutathione binding response to estrogen intercellular bridge cellular detoxification of nitrogen compound uc008qxs.1 uc008qxs.2 uc008qxs.3 
ENSMUST00000004136.10 Gstm3 ENSMUST00000004136.10 glutathione S-transferase, mu 3 (from RefSeq NM_010359.3) ENSMUST00000004136.1 ENSMUST00000004136.2 ENSMUST00000004136.3 ENSMUST00000004136.4 ENSMUST00000004136.5 ENSMUST00000004136.6 ENSMUST00000004136.7 ENSMUST00000004136.8 ENSMUST00000004136.9 GSTM3_MOUSE NM_010359 P19639 uc008qxv.1 uc008qxv.2 uc008qxv.3 uc008qxv.4 Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Reaction=glutathione + RX = a halide anion + an S-substituted glutathione + H(+); Xref=Rhea:RHEA:16437, ChEBI:CHEBI:15378, ChEBI:CHEBI:16042, ChEBI:CHEBI:17792, ChEBI:CHEBI:57925, ChEBI:CHEBI:90779; EC=2.5.1.18; Homodimer. Cytoplasm. Belongs to the GST superfamily. Mu family. Sequence=AAA37748.1; Type=Erroneous initiation; Evidence=; glutathione transferase activity cytoplasm glutathione metabolic process response to bacterium transferase activity cellular response to drug protein homodimerization activity cellular response to organic cyclic compound uc008qxv.1 uc008qxv.2 uc008qxv.3 uc008qxv.4 
ENSMUST00000004137.11 Gstm7 ENSMUST00000004137.11 glutathione S-transferase, mu 7, transcript variant 1 (from RefSeq NM_026672.3) ENSMUST00000004137.1 ENSMUST00000004137.10 ENSMUST00000004137.2 ENSMUST00000004137.3 ENSMUST00000004137.4 ENSMUST00000004137.5 ENSMUST00000004137.6 ENSMUST00000004137.7 ENSMUST00000004137.8 ENSMUST00000004137.9 GSTM7_MOUSE NM_026672 Q3TRV7 Q3V4E2 Q80W21 uc008qxt.1 uc008qxt.2 uc008qxt.3 Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Reaction=glutathione + RX = a halide anion + an S-substituted glutathione + H(+); Xref=Rhea:RHEA:16437, ChEBI:CHEBI:15378, ChEBI:CHEBI:16042, ChEBI:CHEBI:17792, ChEBI:CHEBI:57925, ChEBI:CHEBI:90779; EC=2.5.1.18; Evidence=; Homodimer. Cytoplasm Belongs to the GST superfamily. Mu family. Gstm7 is the putative homolog of human GSTM2. glutathione transferase activity glutathione peroxidase activity receptor binding cytoplasm cytosol glutathione metabolic process regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum sarcoplasmic reticulum transferase activity nitrobenzene metabolic process enzyme binding xenobiotic catabolic process protein homodimerization activity glutathione binding linoleic acid metabolic process intercellular bridge negative regulation of ryanodine-sensitive calcium-release channel activity positive regulation of ryanodine-sensitive calcium-release channel activity cellular detoxification of nitrogen compound cellular response to caffeine cellular oxidant detoxification uc008qxt.1 uc008qxt.2 uc008qxt.3 
ENSMUST00000004140.11 Gstm1 ENSMUST00000004140.11 glutathione S-transferase, mu 1, transcript variant 2 (from RefSeq NM_010358.5) A2AE90 ENSMUST00000004140.1 ENSMUST00000004140.10 ENSMUST00000004140.2 ENSMUST00000004140.3 ENSMUST00000004140.4 ENSMUST00000004140.5 ENSMUST00000004140.6 ENSMUST00000004140.7 ENSMUST00000004140.8 ENSMUST00000004140.9 GSTM1_MOUSE Gstm1 NM_010358 P10649 Q58ET5 uc008qxx.1 uc008qxx.2 uc008qxx.3 uc008qxx.4 Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Involved in the formation of glutathione conjugates of both prostaglandin A2 (PGA2) and prostaglandin J2 (PGJ2). Participates in the formation of novel hepoxilin regioisomers. Reaction=glutathione + RX = a halide anion + an S-substituted glutathione + H(+); Xref=Rhea:RHEA:16437, ChEBI:CHEBI:15378, ChEBI:CHEBI:16042, ChEBI:CHEBI:17792, ChEBI:CHEBI:57925, ChEBI:CHEBI:90779; EC=2.5.1.18; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16438; Evidence=; Reaction=glutathione + prostaglandin A2 = prostaglandin A2-S-(R)- glutathione; Xref=Rhea:RHEA:50796, ChEBI:CHEBI:57925, ChEBI:CHEBI:133370, ChEBI:CHEBI:133768; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50797; Evidence=; Reaction=glutathione + prostaglandin J2 = prostaglandin J2-S-(R)- glutathione; Xref=Rhea:RHEA:50804, ChEBI:CHEBI:57925, ChEBI:CHEBI:133396, ChEBI:CHEBI:133771; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50805; Evidence=; Reaction=glutathione + prostaglandin J2 = prostaglandin J2-S-(S)- glutathione; Xref=Rhea:RHEA:50808, ChEBI:CHEBI:57925, ChEBI:CHEBI:133396, ChEBI:CHEBI:133772; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50809; Evidence=; Reaction=glutathione + prostaglandin A2 = prostaglandin A2-S-(S)- glutathione; Xref=Rhea:RHEA:50800, ChEBI:CHEBI:57925, ChEBI:CHEBI:133370, ChEBI:CHEBI:133769; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50801; Evidence=; Reaction=11(S)-hydroxy-14(S),15(S)-epoxy-(5Z,8Z,12E)-eicosatrienoate + glutathione = (11S,15S)-dihydroxy-14(R)-S-glutathionyl-(5Z,8Z,12E)- eicosatrienoate; Xref=Rhea:RHEA:50260, ChEBI:CHEBI:57925, ChEBI:CHEBI:132200, ChEBI:CHEBI:132201; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50261; Evidence=; Homodimer. Cytoplasm. Mass=25838.4; Mass_error=2; Method=Electrospray; Evidence=; Belongs to the GST superfamily. Mu family. glutathione transferase activity steroid binding protein binding extracellular region cytoplasm cytosol glutathione metabolic process nickel cation binding transferase activity protein kinase binding macromolecular complex cellular response to drug xenobiotic catabolic process identical protein binding protein homodimerization activity myelin sheath glutathione binding intercellular bridge uc008qxx.1 uc008qxx.2 uc008qxx.3 uc008qxx.4 
ENSMUST00000004143.3 Stat5b ENSMUST00000004143.3 signal transducer and activator of transcription 5B, transcript variant 3 (from RefSeq NM_001362682.1) A2A5D5 ENSMUST00000004143.1 ENSMUST00000004143.2 NM_001362682 P42232 Q541Q5 Q60804 Q8K3Q1 Q9JKM1 Q9R0X8 STA5B_MOUSE uc007lmj.1 uc007lmj.2 uc007lmj.3 uc007lmj.4 Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription. Positively regulates hematopoietic/erythroid differentiation. Upon activation, forms a homodimer or a heterodimer with a related family member. Binds NR3C1 (PubMed:9528750). Interacts with NCOA1 (By similarity). Interacts with SOCS7 (By similarity). Interacts (via SH2 domain) with INSR (PubMed:9428692). Interacts with CPEB3; this inhibits STAT5B-mediated transcriptional activation (PubMed:20639532). P42232; Q96EY1: DNAJA3; Xeno; NbExp=3; IntAct=EBI-617454, EBI-356767; P42232; Q96EY1-1: DNAJA3; Xeno; NbExp=2; IntAct=EBI-617454, EBI-4322330; P42232; Q96EY1-2: DNAJA3; Xeno; NbExp=2; IntAct=EBI-617454, EBI-3952284; P42232; P19941: GHR; Xeno; NbExp=6; IntAct=EBI-617454, EBI-7526279; Cytoplasm Nucleus Note=Translocated into the nucleus in response to phosphorylation. In the virgin, found in most tissues. Particularly abundant in muscle tissue of virgin and lactating females, and of males. Detected both in virgin mouse and after mammary gland involution. The level of STAT5A increases constantly during pregnancy, but decreases during lactation. Tyrosine phosphorylated in response to signaling via activated KIT, resulting in translocation to the nucleus. Tyrosine phosphorylated in response to signaling via activated FLT3; wild-type FLT3 results in much weaker phosphorylation than constitutively activated mutant FLT3. Alternatively, can be phosphorylated by JAK2 (By similarity). Phosphorylation at Tyr-699 by PTK6 or HCK leads to an increase of its transcriptional activity (By similarity). Belongs to the transcription factor STAT family. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding luteinization natural killer cell differentiation liver development DNA binding chromatin binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter defense response acute-phase response signal transduction JAK-STAT cascade sex differentiation female pregnancy lactation positive regulation of cell proliferation regulation of steroid metabolic process cytokine-mediated signaling pathway taurine metabolic process lipid storage regulation of cell adhesion regulation of epithelial cell differentiation response to estradiol response to lipopolysaccharide positive regulation of natural killer cell proliferation positive regulation of natural killer cell differentiation cellular response to hormone stimulus T cell differentiation in thymus glucocorticoid receptor binding regulation of multicellular organism growth positive regulation of multicellular organism growth positive regulation of activated T cell proliferation regulation of cell proliferation progesterone metabolic process T cell homeostasis negative regulation of apoptotic process response to peptide hormone sequence-specific DNA binding positive regulation of interleukin-2 biosynthetic process positive regulation of B cell differentiation positive regulation of gamma-delta T cell differentiation positive regulation of lymphocyte differentiation negative regulation of erythrocyte differentiation positive regulation of erythrocyte differentiation positive regulation of mitotic cell cycle positive regulation of transcription from RNA polymerase II promoter positive regulation of natural killer cell mediated cytotoxicity development of secondary female sexual characteristics development of secondary male sexual characteristics protein dimerization activity Peyer's patch development positive regulation of smooth muscle cell proliferation positive regulation of inflammatory response positive regulation of cellular component movement JAK-STAT cascade involved in growth hormone signaling pathway response to interleukin-2 response to interleukin-4 response to interleukin-15 cellular response to growth factor stimulus cellular response to epidermal growth factor stimulus mast cell migration uc007lmj.1 uc007lmj.2 uc007lmj.3 uc007lmj.4 
ENSMUST00000004145.14 Stat5a ENSMUST00000004145.14 signal transducer and activator of transcription 5A, transcript variant 1 (from RefSeq NM_011488.3) ENSMUST00000004145.1 ENSMUST00000004145.10 ENSMUST00000004145.11 ENSMUST00000004145.12 ENSMUST00000004145.13 ENSMUST00000004145.2 ENSMUST00000004145.3 ENSMUST00000004145.4 ENSMUST00000004145.5 ENSMUST00000004145.6 ENSMUST00000004145.7 ENSMUST00000004145.8 ENSMUST00000004145.9 NM_011488 Q9JIA0 Q9JIA0_MOUSE Stat5A Stat5a uc007lml.1 uc007lml.2 uc007lml.3 Cytoplasm cleus Belongs to the transcription factor STAT family. transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus cytoplasm regulation of transcription, DNA-templated signal transduction positive regulation of transcription from RNA polymerase II promoter JAK-STAT cascade involved in growth hormone signaling pathway uc007lml.1 uc007lml.2 uc007lml.3 
ENSMUST00000004156.10 Map3k11 ENSMUST00000004156.10 mitogen-activated protein kinase kinase kinase 11, transcript variant 1 (from RefSeq NM_022012.4) ENSMUST00000004156.1 ENSMUST00000004156.2 ENSMUST00000004156.3 ENSMUST00000004156.4 ENSMUST00000004156.5 ENSMUST00000004156.6 ENSMUST00000004156.7 ENSMUST00000004156.8 ENSMUST00000004156.9 M3K11_MOUSE Mlk3 NM_022012 Q80XI6 Q8K0M8 Q9JJ15 uc008get.1 uc008get.2 uc008get.3 uc008get.4 uc008get.5 Activates the JUN N-terminal pathway. Required for serum- stimulated cell proliferation and for mitogen and cytokine activation of MAPK14 (p38), MAPK3 (ERK) and MAPK8 (JNK1) through phosphorylation and activation of MAP2K4/MKK4 and MAP2K7/MKK7. Plays a role in mitogen- stimulated phosphorylation and activation of BRAF, but does not phosphorylate BRAF directly. Influences microtubule organization during the cell cycle (By similarity). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.25; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.25; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Homodimerization via the leucine zipper domains is required for autophosphorylation and subsequent activation. Homodimer; undergoes dimerization during activation. Interacts with MAP2K4/MKK4 and MAP2K7/MKK7 (By similarity). Found in a complex with SH3RF1, RAC1, MAP2K7/MKK7, MAPK8IP1/JIP1 and MAPK8/JNK1 (PubMed:23963642). Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Location is cell cycle dependent. Autophosphorylation on serine and threonine residues within the activation loop plays a role in enzyme activation. Thr-278 is likely to be the main autophosphorylation site. Phosphorylation of Ser-556 and Ser-557 is induced by CDC42 (By similarity). Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. nucleotide binding activation of MAPK activity protein kinase activity protein serine/threonine kinase activity JUN kinase kinase kinase activity MAP kinase kinase kinase activity protein binding ATP binding cytoplasm centrosome microtubule organizing center cytoskeleton microtubule protein phosphorylation microtubule-based process JNK cascade activation of JNKK activity activation of JUN kinase activity cell death cell proliferation kinase activity phosphorylation transferase activity mitogen-activated protein kinase kinase binding mitogen-activated protein kinase kinase kinase binding identical protein binding protein homodimerization activity positive regulation of apoptotic process positive regulation of JUN kinase activity positive regulation of neuron apoptotic process positive regulation of JNK cascade protein autophosphorylation Rac GTPase binding uc008get.1 uc008get.2 uc008get.3 uc008get.4 uc008get.5 
ENSMUST00000004172.15 Hmox2 ENSMUST00000004172.15 heme oxygenase 2, transcript variant 1 (from RefSeq NM_001136066.2) ENSMUST00000004172.1 ENSMUST00000004172.10 ENSMUST00000004172.11 ENSMUST00000004172.12 ENSMUST00000004172.13 ENSMUST00000004172.14 ENSMUST00000004172.2 ENSMUST00000004172.3 ENSMUST00000004172.4 ENSMUST00000004172.5 ENSMUST00000004172.6 ENSMUST00000004172.7 ENSMUST00000004172.8 ENSMUST00000004172.9 Hmox2 NM_001136066 Q544R7 Q544R7_MOUSE uc007yag.1 uc007yag.2 uc007yag.3 uc007yag.4 Reaction=heme b + 3 O2 + 3 reduced [NADPH--hemoprotein reductase] = biliverdin IXalpha + CO + Fe(2+) + H(+) + 3 H2O + 3 oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:21764, Rhea:RHEA- COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17245, ChEBI:CHEBI:29033, ChEBI:CHEBI:57618, ChEBI:CHEBI:57991, ChEBI:CHEBI:58210, ChEBI:CHEBI:60344; EC=1.14.14.18; Evidence=; Belongs to the heme oxygenase family. heme oxygenase (decyclizing) activity heme oxidation response to oxidative stress membrane integral component of membrane metal ion binding oxidation-reduction process uc007yag.1 uc007yag.2 uc007yag.3 uc007yag.4 
ENSMUST00000004173.12 Cdip1 ENSMUST00000004173.12 cell death inducing Trp53 target 1, transcript variant 6 (from RefSeq NM_025670.5) CDIP1_MOUSE ENSMUST00000004173.1 ENSMUST00000004173.10 ENSMUST00000004173.11 ENSMUST00000004173.2 ENSMUST00000004173.3 ENSMUST00000004173.4 ENSMUST00000004173.5 ENSMUST00000004173.6 ENSMUST00000004173.7 ENSMUST00000004173.8 ENSMUST00000004173.9 NM_025670 Q3UD73 Q9CYP1 Q9DB75 uc007yaj.1 uc007yaj.2 uc007yaj.3 Acts as an important p53/TP53-apoptotic effector. Regulates TNF-alpha-mediated apoptosis in a p53/TP53-dependent manner (By similarity). Late endosome membrane ; Peripheral membrane protein ; Cytoplasmic side Lysosome membrane ; Peripheral membrane protein ; Cytoplasmic side Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9DB75-1; Sequence=Displayed; Name=2; IsoId=Q9DB75-2; Sequence=VSP_023632; The LITAF domain is stabilized by a bound zinc ion. The LITAF domain contains an amphipathic helix that mediates interaction with lipid membranes. Belongs to the CDIP1/LITAF family. nucleus lysosome lysosomal membrane endosome apoptotic process membrane late endosome membrane tumor necrosis factor-mediated signaling pathway intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator metal ion binding cytoplasmic side of late endosome membrane cytoplasmic side of lysosomal membrane uc007yaj.1 uc007yaj.2 uc007yaj.3 
ENSMUST00000004200.9 Cwc15 ENSMUST00000004200.9 CWC15 spliceosome-associated protein (from RefSeq NM_023153.3) CWC15_MOUSE ENSMUST00000004200.1 ENSMUST00000004200.2 ENSMUST00000004200.3 ENSMUST00000004200.4 ENSMUST00000004200.5 ENSMUST00000004200.6 ENSMUST00000004200.7 ENSMUST00000004200.8 Ed1 NM_023153 Q3TH98 Q9CTH0 Q9JHS9 uc009oeo.1 uc009oeo.2 uc009oeo.3 Involved in pre-mRNA splicing as component of the spliceosome. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre- mRNA splicing. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (By similarity). Identified in the spliceosome C complex. Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. Interacts directly with CTNNBL1 in the complex. Component of the minor spliceosome, which splices U12-type introns (By similarity). Nucleus Belongs to the CWC15 family. mRNA splicing, via spliceosome RNA binding nucleus spliceosomal complex mitochondrion mRNA processing RNA splicing nuclear speck mRNA cis splicing, via spliceosome U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome uc009oeo.1 uc009oeo.2 uc009oeo.3 
ENSMUST00000004201.8 Col5a3 ENSMUST00000004201.8 collagen, type V, alpha 3, transcript variant 1 (from RefSeq NM_016919.3) Col5a3 ENSMUST00000004201.1 ENSMUST00000004201.2 ENSMUST00000004201.3 ENSMUST00000004201.4 ENSMUST00000004201.5 ENSMUST00000004201.6 ENSMUST00000004201.7 NM_016919 Q9JLI2 Q9JLI2_MOUSE uc009ojf.1 uc009ojf.2 uc009ojf.3 uc009ojf.4 Type I collagen is a member of group I collagen (fibrillar forming collagen). Trimers of one alpha 2(I) and two alpha 1(I) chains. Belongs to the fibrillar collagen family. Lacks conserved residue(s) required for the propagation of feature annotation. structural molecule activity extracellular matrix structural constituent collagen trimer collagen type V trimer collagen type IX trimer extracellular space cell-matrix adhesion heparin binding extracellular matrix structural constituent conferring tensile strength extracellular matrix organization extracellular matrix proteoglycan binding uc009ojf.1 uc009ojf.2 uc009ojf.3 uc009ojf.4 
ENSMUST00000004202.17 Dnmt1 ENSMUST00000004202.17 DNA methyltransferase 1, transcript variant 2 (from RefSeq NM_010066.5) DNMT1_MOUSE Dnmt ENSMUST00000004202.1 ENSMUST00000004202.10 ENSMUST00000004202.11 ENSMUST00000004202.12 ENSMUST00000004202.13 ENSMUST00000004202.14 ENSMUST00000004202.15 ENSMUST00000004202.16 ENSMUST00000004202.2 ENSMUST00000004202.3 ENSMUST00000004202.4 ENSMUST00000004202.5 ENSMUST00000004202.6 ENSMUST00000004202.7 ENSMUST00000004202.8 ENSMUST00000004202.9 Met1 NM_010066 P13864 P97413 Q80ZU3 Q9CSC6 Q9QXX6 Uim uc009ojq.1 uc009ojq.2 uc009ojq.3 uc009ojq.4 This gene encodes a methyltransferase that preferentially methylates cytosines of CpG residues in hemimethylated DNA to generate fully methylated CpG base pairs during DNA replication. This enzyme plays roles in diverse cellular processes including cell cycle regulation, DNA repair, and telomere maintenance. The encoded protein is composed of an N-terminal domain with a nuclear localization sequence and replication fork-targeting domain, a DNA-binding CXXC domain, two bromo-adjacent homology domains, and a C-terminal catalytic domain. Mouse embryonic stem cells mutant for this gene are viable, but when introduced into the germ line, cause a recessive lethal phenotype with mutant embryos displaying stunted growth and developmental defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. Methylates CpG residues. Preferentially methylates hemimethylated DNA. Associates with DNA replication sites in S phase maintaining the methylation pattern in the newly synthesized strand, that is essential for epigenetic inheritance. Associates with chromatin during G2 and M phases to maintain DNA methylation independently of replication. It is responsible for maintaining methylation patterns established in development. DNA methylation is coordinated with methylation of histones. Mediates transcriptional repression by direct binding to HDAC2. In association with DNMT3B and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Probably forms a corepressor complex required for activated KRAS- mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells (By similarity). Also required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (By similarity). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing (By similarity). Promotes tumor growth (By similarity). Reaction=a 2'-deoxycytidine in DNA + S-adenosyl-L-methionine = a 5- methyl-2'-deoxycytidine in DNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:13681, Rhea:RHEA-COMP:11369, Rhea:RHEA-COMP:11370, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:85452, ChEBI:CHEBI:85454; EC=2.1.1.37; Evidence=; Allosterically regulated. The binding of 5- methylcytosine-containing DNA to the N-terminal parts of DNMT1 causes an allosteric activation of the catalytic domain by a direct interaction of its Zn-binding domain with the catalytic domain. Homodimer (By similarity). Forms a stable complex with E2F1, BB1 and HDAC1 (By similarity). Forms a complex with DMAP1 and HDAC2, with direct interaction (PubMed:10888872). Interacts with the PRC2/EED- EZH2 complex (PubMed:16357870). Probably part of a corepressor complex containing ZNF304, TRIM28, SETDB1 and DNMT1 (By similarity). Interacts with UHRF1; promoting its recruitment to hemimethylated DNA (PubMed:21268065). Interacts with USP7, promoting its deubiquitination (PubMed:21268065). Interacts with BAZ2A/TIP5 (PubMed:16085498). Interacts with PCNA (By similarity). Interacts with MBD2 and MBD3 (By similarity). Interacts with DNMT3A and DNMT3B (By similarity). Interacts with UBC9 (By similarity). Interacts with HDAC1 (PubMed:10615135). Interacts with CSNK1D (PubMed:20192920). Interacts with SIRT7 (PubMed:28842251). Interacts with ZNF263; recruited to the SIX3 promoter along with other proteins involved in chromatin modification and transcriptional corepression where it contributes to transcriptional repression (By similarity). Interacts with L3MBTL3 and DCAF5; the interaction requires DNMT1 methylation at Lys-139 and is necessary to target DNMT1 for ubiquitination by the CRL4-DCAF5 E3 ubiquitin ligase complex and proteasomal degradation (By similarity). Interacts with PHF20L1; the interaction requires DNMT1 methylation at Lys-139 and protects DNMT1 from ubiquitination and proteasomal degradation (By similarity). P13864; O09106: Hdac1; NbExp=3; IntAct=EBI-301927, EBI-301912; Nucleus Cytoplasm Note=It is nucleoplasmic through most of the cell cycle and associates with replication foci during S-phase. In germ cells, spermatogonia, preleptotene and leptotene spermatocytes all express high levels of nuclear protein, while the protein is not detected in pachytene spermatocytes, despite the fact they expressed high levels of mRNA. In females, the protein is not detected in non- growing oocytes, in contrast to the growing oocytes. During the growing, the protein is no longer detectable in nuclei but accumulates to very high levels first throughout the cytoplasm. At the time of ovulation, all the protein is cytoplasmic and is actively associated with the oocyte cortex. After fecondation, in the preimplantation embryo, the protein remains cytoplasmic and after implantation, it is exclusively nuclear in all tissue types. Isoform 2 is sequestered in the cytoplasm of maturing oocytes and of preimplantation embryos, except for the 8-cell stage, while isoform 1 is exclusively nuclear. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Long; IsoId=P13864-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P13864-2; Sequence=VSP_005619; Isoform 1 is expressed in embryonic stem cells and in somatic tissues. Isoform 2 is expressed in oocytes, preimplantation embryos, testis and in skeletal muscle during myogenesis. In germ cells, it is present at high levels in spermatogonia and spermatocytes until the pachytene stage, where it falls to undetectable levels. The transient drop at the pachytene stage coincides with the disappearance of the 5.2 kb mRNA and the accumulation of a larger 6.0 kb mRNA. Oocytes accumulate very large amounts of Dnmt1 protein during the growth phase. The N-terminal part is required for homodimerization and acts as a regulatory domain. The CXXC-type zinc finger specifically binds to unmethylated CpG dinucleotides, positioning the autoinhibitory linker between the DNA and the active site, thus providing a mechanism to ensure that only hemimethylated CpG dinucleotides undergo methylation. Sumoylated; sumoylation increases activity. Phosphorylation at Ser-146 by CK1 reduces DNA-binding activity. Acetylation on multiple lysines, mainly by KAT2B/PCAF, regulates cell cycle G(2)/M transition. Deacetylation of Lys-1352 and Lys-1418 by SIRT1 increases methyltransferase activity. Phosphorylation of Ser-152 by CDKs is important for enzymatic activity and protein stability. Phosphorylation of Ser-140 by AKT1 prevents methylation by SETD7 therebye increasing DNMT1 stability. Methylation at Lys-139 by SETD7 is necessary for the regulation of DNMT1 proteasomal degradation. Ubiquitinated by UHRF1; interaction with USP7 counteracts ubiquitination by UHRF1 by promoting deubiquitination and preventing degradation by the proteasome. There are three 5' exons, one specific to the oocyte (1c), one specific to the pachytene spermatocyte and also found in skeletal muscle (1b) and one found in somatic cells (1a). Three different mRNAs can be produced which give rise to two different translation products: isoform 1 (mRNAs-1a) and isoform 2 (mRNA-1b or -1c). Association of DNMT1 with the replication machinery is not strictly required for maintaining global methylation but still enhances methylation efficiency by 2-fold. Pre-existing cytosine methylation at CpG and non-CpG sites enhances methylation activity. Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family. Sequence=AAC52900.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; negative regulation of transcription from RNA polymerase II promoter heterochromatin DNA binding chromatin binding RNA binding catalytic activity DNA (cytosine-5-)-methyltransferase activity protein binding nucleus nucleoplasm replication fork pericentric heterochromatin cytoplasm DNA methylation chromatin organization Ras protein signal transduction metabolic process methyltransferase activity zinc ion binding methyl-CpG binding DNA-methyltransferase activity maintenance of DNA methylation DNA methylation on cytosine within a CG sequence regulation of gene expression positive regulation of gene expression negative regulation of gene expression gene silencing transferase activity protein domain specific binding estrogen receptor binding methylation DNA methylation on cytosine macromolecular complex regulation of cell proliferation response to drug histone deacetylase binding neuronal cell body DNA methylation involved in embryo development DNA hypermethylation negative regulation of transcription, DNA-templated S-adenosylmethionine metabolic process metal ion binding positive regulation of histone H3-K4 methylation negative regulation of histone H3-K9 methylation DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates cellular response to amino acid stimulus cellular response to transforming growth factor beta stimulus C-5 methylation of cytosine positive regulation of methylation-dependent chromatin silencing positive regulation of vascular smooth muscle cell proliferation negative regulation of vascular associated smooth muscle cell apoptotic process promoter-specific chromatin binding uc009ojq.1 uc009ojq.2 uc009ojq.3 uc009ojq.4 
ENSMUST00000004203.6 Ppan ENSMUST00000004203.6 peter pan homolog (from RefSeq NM_145610.2) ENSMUST00000004203.1 ENSMUST00000004203.2 ENSMUST00000004203.3 ENSMUST00000004203.4 ENSMUST00000004203.5 NM_145610 Q8BYM4 Q91YU8 SSF1_MOUSE Ssf1 uc009ojk.1 uc009ojk.2 uc009ojk.3 uc009ojk.4 May have a role in cell growth. Nucleus, nucleolus ribosomal large subunit assembly regulation of cell growth by extracellular stimulus nucleus nucleolus preribosome, large subunit precursor uc009ojk.1 uc009ojk.2 uc009ojk.3 uc009ojk.4 
ENSMUST00000004206.10 Eif3g ENSMUST00000004206.10 eukaryotic translation initiation factor 3, subunit G (from RefSeq NM_016876.3) EIF3G_MOUSE ENSMUST00000004206.1 ENSMUST00000004206.2 ENSMUST00000004206.3 ENSMUST00000004206.4 ENSMUST00000004206.5 ENSMUST00000004206.6 ENSMUST00000004206.7 ENSMUST00000004206.8 ENSMUST00000004206.9 Eif3p42 Eif3s4 NM_016876 Q9R079 Q9Z1D1 uc009ojm.1 uc009ojm.2 uc009ojm.3 RNA-binding component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre- initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression. This subunit can bind 18S rRNA. Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is composed of 13 subunits: EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L and EIF3M. The eIF-3 complex appears to include 3 stable modules: module A is composed of EIF3A, EIF3B, EIF3G and EIF3I; module B is composed of EIF3F, EIF3H, and EIF3M; and module C is composed of EIF3C, EIF3D, EIF3E, EIF3K and EIF3L. EIF3C of module C binds EIF3B of module A and EIF3H of module B, thereby linking the three modules. EIF3J is a labile subunit that binds to the eIF-3 complex via EIF3B. The eIF-3 complex may interact with RPS6KB1 under conditions of nutrient depletion. Mitogenic stimulation may lead to binding and activation of a complex composed of MTOR and RPTOR, leading to phosphorylation and release of RPS6KB1 and binding of EIF4B to eIF-3. Interacts (via C-terminus) with AIFM1 (via N-terminus) (By similarity). Interacts with DHX33; the interaction is independent of RNA (PubMed:26100019). Cytoplasm Nucleus Cytoplasm, perinuclear region Note=Colocalizes with AIFM1 in the nucleus and perinuclear region. Phosphorylated. Phosphorylation is enhanced upon serum stimulation. Belongs to the eIF-3 subunit G family. formation of cytoplasmic translation initiation complex cytoplasmic translational initiation nucleic acid binding RNA binding translation initiation factor activity protein binding nucleus cytoplasm cytosol eukaryotic translation initiation factor 3 complex translation translational initiation eukaryotic 43S preinitiation complex eukaryotic 48S preinitiation complex perinuclear region of cytoplasm viral translational termination-reinitiation uc009ojm.1 uc009ojm.2 uc009ojm.3 
ENSMUST00000004208.7 Angptl2 ENSMUST00000004208.7 angiopoietin-like 2 (from RefSeq NM_011923.4) ANGL2_MOUSE Arp2 ENSMUST00000004208.1 ENSMUST00000004208.2 ENSMUST00000004208.3 ENSMUST00000004208.4 ENSMUST00000004208.5 ENSMUST00000004208.6 NM_011923 Q8BM09 Q9R045 uc008jhr.1 uc008jhr.2 uc008jhr.3 Induces sprouting in endothelial cells through an autocrine and paracrine action. Secreted Widely expressed in heart, tongue, lung and skeletal muscle. Also found in lower levels in kidney, epididymis and testis. extracellular region extracellular space uc008jhr.1 uc008jhr.2 uc008jhr.3 
ENSMUST00000004222.14 Hira ENSMUST00000004222.14 histone cell cycle regulator (from RefSeq NM_010435.2) ENSMUST00000004222.1 ENSMUST00000004222.10 ENSMUST00000004222.11 ENSMUST00000004222.12 ENSMUST00000004222.13 ENSMUST00000004222.2 ENSMUST00000004222.3 ENSMUST00000004222.4 ENSMUST00000004222.5 ENSMUST00000004222.6 ENSMUST00000004222.7 ENSMUST00000004222.8 ENSMUST00000004222.9 HIRA_MOUSE NM_010435 O08845 Q3TFY0 Q3UX35 Q61666 Q62365 Q7TMW4 Tuple1 uc007yoq.1 uc007yoq.2 uc007yoq.3 uc007yoq.4 Required for the periodic repression of histone gene transcription during the cell cycle (By similarity). Cooperates with ASF1A to promote replication-independent chromatin assembly. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit. Interacts with CCNA1, HIRIP3 and NFU1/HIRIP5 (By similarity). Part of a complex which includes ASF1A, CABIN1, histone H3.3, histone H4 and UBN1 (By similarity). Interacts with histone H2B, histone H3-3B, PAX3 and PAX7 (PubMed:9731536). Nucleus Nucleus, PML body Note=Primarily, though not exclusively, localized to the nucleus (By similarity). Localizes to PML bodies immediately prior to onset of senescence (By similarity). Localizes specifically to the male nucleus in fertilized eggs. This localization persists from the initiation of sperm nucleus decondensation to pronucleus formation. Event=Alternative splicing; Named isoforms=4; Name=Long; IsoId=Q61666-1; Sequence=Displayed; Name=Short; IsoId=Q61666-2; Sequence=VSP_006773, VSP_006774; Name=3; IsoId=Q61666-3; Sequence=VSP_025050, VSP_025051, VSP_025052; Name=4; IsoId=Q61666-4; Sequence=VSP_025049; Expressed in cerebrum, cerebellum, heart, kidney, liver, lung and spleen. Throughout development the long isoform is more abundant. In embryos, ubiquitously expressed with high levels detected in cranial neural folds, subregions of pharyngeal arches 1 and 2, circumpharyngeal neural crest and limb buds. Sumoylated. Phosphorylated by CDK2/CCNA1 and CDK2/CCNE1 on Thr-554 in vitro (By similarity). Also phosphorylated on Thr-554 in vivo. Embryonic stem cells (ES cells) exhibit accelerated differentiation in the early stages which may be attributable to increased availability of soluble histones. Belongs to the WD repeat HIR1 family. mitotic sister chromatid segregation HIR complex chromosome, centromeric region nuclear chromatin osteoblast differentiation transcription corepressor activity protein binding nucleus chromatin organization DNA replication-independent nucleosome assembly transcription, DNA-templated regulation of transcription, DNA-templated gastrulation PML body chromatin silencing at centromere regulation of chromatin silencing macromolecular complex muscle cell differentiation DNA binding nucleosome binding uc007yoq.1 uc007yoq.2 uc007yoq.3 uc007yoq.4 
ENSMUST00000004232.10 Adh1 ENSMUST00000004232.10 alcohol dehydrogenase 1 (class I) (from RefSeq NM_007409.3) Adh1 ENSMUST00000004232.1 ENSMUST00000004232.2 ENSMUST00000004232.3 ENSMUST00000004232.4 ENSMUST00000004232.5 ENSMUST00000004232.6 ENSMUST00000004232.7 ENSMUST00000004232.8 ENSMUST00000004232.9 NM_007409 Q3UKA4 Q3UKA4_MOUSE uc008rnf.1 uc008rnf.2 uc008rnf.3 Reaction=a primary alcohol + NAD(+) = an aldehyde + H(+) + NADH; Xref=Rhea:RHEA:10736, ChEBI:CHEBI:15378, ChEBI:CHEBI:15734, ChEBI:CHEBI:17478, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.1; Evidence=; Reaction=a secondary alcohol + NAD(+) = a ketone + H(+) + NADH; Xref=Rhea:RHEA:10740, ChEBI:CHEBI:15378, ChEBI:CHEBI:17087, ChEBI:CHEBI:35681, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.1; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence= Cytoplasm Belongs to the zinc-containing alcohol dehydrogenase family. Class-I subfamily. zinc ion binding oxidoreductase activity metal ion binding oxidation-reduction process uc008rnf.1 uc008rnf.2 uc008rnf.3 
ENSMUST00000004281.10 Dyrk2 ENSMUST00000004281.10 dual-specificity tyrosine phosphorylation regulated kinase 2 (from RefSeq NM_001014390.2) DYRK2_MOUSE Dyrk2 ENSMUST00000004281.1 ENSMUST00000004281.2 ENSMUST00000004281.3 ENSMUST00000004281.4 ENSMUST00000004281.5 ENSMUST00000004281.6 ENSMUST00000004281.7 ENSMUST00000004281.8 ENSMUST00000004281.9 NM_001014390 Q5U4C9 uc007hea.1 uc007hea.2 uc007hea.3 Serine/threonine-protein kinase involved in the regulation of the mitotic cell cycle, cell proliferation, apoptosis, organization of the cytoskeleton and neurite outgrowth. Functions in part via its role in ubiquitin-dependent proteasomal protein degradation. Functions downstream of ATM and phosphorylates p53/TP53 at 'Ser-46', and thereby contributes to the induction of apoptosis in response to DNA damage. Phosphorylates NFATC1, and thereby inhibits its accumulation in the nucleus and its transcription factor activity. Phosphorylates EIF2B5 at 'Ser-544', enabling its subsequent phosphorylation and inhibition by GSK3B. Likewise, phosphorylation of NFATC1, CRMP2/DPYSL2 and CRMP4/DPYSL3 promotes their subsequent phosphorylation by GSK3B. May play a general role in the priming of GSK3 substrates. Inactivates GYS1 by phosphorylation at 'Ser-641', and potentially also a second phosphorylation site, thus regulating glycogen synthesis. Mediates EDVP E3 ligase complex formation and is required for the phosphorylation and subsequent degradation of KATNA1. Phosphorylates TERT at 'Ser-457', promoting TERT ubiquitination by the EDVP complex. Phosphorylates SIAH2, and thereby increases its ubiquitin ligase activity. Promotes the proteasomal degradation of MYC and JUN, and thereby regulates progress through the mitotic cell cycle and cell proliferation. Promotes proteasomal degradation of GLI2 and GLI3, and thereby plays a role in smoothened and sonic hedgehog signaling. Phosphorylates CRMP2/DPYSL2, CRMP4/DPYSL3, DCX, EIF2B5, EIF4EBP1, GLI2, GLI3, GYS1, JUN, MDM2, MYC, NFATC1, p53/TP53, TAU/MAPT and KATNA1. Can phosphorylate histone H1, histone H3 and histone H2B (in vitro). Can phosphorylate CARHSP1 (in vitro) (By similarity). Plays a role in cytoskeleton organization and neurite outgrowth via its phosphorylation of DCX. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.12.1; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.12.1; Evidence=; Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.12.1; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Activated by autophosphorylation on the second tyrosine residue in the Tyr-X-Tyr motif in the activation loop. Component of an E3 ligase complex containing DYRK2, EDD/UBR5, DDB1 and DCAF1 (EDVP complex). Interacts directly with EDD/UBR5, DDB1 and DCAF1. Interacts with SIAH2 and MDM2. Interacts with MAP3K10 and NFATC1. May also interact with CCNL2 (By similarity). Cytoplasm Nucleus Note=Translocates into the nucleus following DNA damage. Autophosphorylates cotranslationally on the second tyrosine residue in the Tyr-X-Tyr motif in the activation loop, but once mature, does not have any protein tyrosine kinase activity. Phosphorylated at Thr-104 and Ser-440 by ATM in response to genotoxic stress. Under normal conditions, polyubiquitinated in the nucleus by MDM2, leading to its proteasomal degradation. Phosphorylation on Thr-104 and Ser-440 by ATM in response to genotoxic stress disrupts MDM2 binding and prevents MDM2-mediated ubiquitination and subsequent proteasomal degradation. Polyubiquitinated by SIAH2, leading to its proteasomal degradation. Polyubiquitinated by SIAH2 occurs under normal conditions, and is enhanced in response to hypoxia. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily. ubiquitin ligase complex nucleotide binding magnesium ion binding protein kinase activity protein serine/threonine kinase activity protein serine/threonine/tyrosine kinase activity protein tyrosine kinase activity ATP binding nucleus nucleoplasm cytoplasm cytosol cytoskeleton protein phosphorylation apoptotic process cellular response to DNA damage stimulus smoothened signaling pathway kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation peptidyl-tyrosine phosphorylation manganese ion binding intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator positive regulation of glycogen biosynthetic process negative regulation of calcineurin-NFAT signaling cascade ribonucleoprotein complex uc007hea.1 uc007hea.2 uc007hea.3 
ENSMUST00000004294.12 Kifc2 ENSMUST00000004294.12 kinesin family member C2, transcript variant 22 (from RefSeq NR_183666.1) ENSMUST00000004294.1 ENSMUST00000004294.10 ENSMUST00000004294.11 ENSMUST00000004294.2 ENSMUST00000004294.3 ENSMUST00000004294.4 ENSMUST00000004294.5 ENSMUST00000004294.6 ENSMUST00000004294.7 ENSMUST00000004294.8 ENSMUST00000004294.9 G3X8Q6 G3X8Q6_MOUSE Kifc2 NR_183666 uc007wll.1 uc007wll.2 uc007wll.3 Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. nucleotide binding motor activity microtubule motor activity ATP binding microtubule microtubule-based movement microtubule binding uc007wll.1 uc007wll.2 uc007wll.3 
ENSMUST00000004326.4 Plxna3 ENSMUST00000004326.4 plexin A3, transcript variant 1 (from RefSeq NM_008883.2) A5D6Q5 ENSMUST00000004326.1 ENSMUST00000004326.2 ENSMUST00000004326.3 NM_008883 P70208 PLXA3_MOUSE Q684J0 Q8BWZ5 uc009too.1 uc009too.2 Coreceptor for SEMA3A and SEMA3F. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance in the developing nervous system. Regulates the migration of sympathetic neurons, but not of neural crest precursors. Required for normal dendrite spine morphology in pyramidal neurons. May play a role in regulating semaphorin-mediated programmed cell death in the developing nervous system. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down-stream signaling events in the cytoplasm. Cell membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P70208-1; Sequence=Displayed; Name=2; IsoId=P70208-2; Sequence=VSP_041609; Detected in embryonic hindbrain, spinal cord, dorsal root ganglion, trigeminal ganglion and superior cervical ganglion. In newborns, detected throughout all layers of the hippocampus. No visible phenotype, but causes subtle changes in the central nervous system. Mice exhibit altered apical dendrite spine morphology in pyramidal neurons. Mice exhibit defasciculation of the facial branchiomotor nerve and of the ophthalmic branch of the trigeminus, with variable severity. The number of neurons in the dorsal root ganglion is higher than normal, probably due to reduced neuronal apoptosis. In mice lacking both Plxna3 and Plxna4, migrating neurons do not show the normal response to Sema3A and Sema3F and do not migrate away from these semaphorins (in vitro). Belongs to the plexin family. semaphorin receptor complex nucleus plasma membrane integral component of plasma membrane negative regulation of cell adhesion signal transduction axon guidance regulation of cell shape membrane integral component of membrane semaphorin receptor activity facial nerve structural organization trigeminal nerve structural organization hippocampus development branchiomotor neuron axon guidance pyramidal neuron development cell junction regulation of cell migration regulation of GTPase activity intracellular membrane-bounded organelle negative regulation of axon extension involved in axon guidance positive regulation of axonogenesis negative chemotaxis positive regulation of cytoskeleton organization semaphorin-plexin signaling pathway neuron projection guidance semaphorin-plexin signaling pathway involved in axon guidance neuron projection extension uc009too.1 uc009too.2 
ENSMUST00000004327.11 G6pdx ENSMUST00000004327.11 glucose-6-phosphate dehydrogenase X-linked (from RefSeq NM_008062.3) ENSMUST00000004327.1 ENSMUST00000004327.10 ENSMUST00000004327.2 ENSMUST00000004327.3 ENSMUST00000004327.4 ENSMUST00000004327.5 ENSMUST00000004327.6 ENSMUST00000004327.7 ENSMUST00000004327.8 ENSMUST00000004327.9 G6pdx NM_008062 Q790Y8 Q790Y8_MOUSE RP23-436K3.17-001 uc009toy.1 uc009toy.2 uc009toy.3 Catalyzes the rate-limiting step of the oxidative pentose- phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. Reaction=D-glucose 6-phosphate + NADP(+) = 6-phospho-D-glucono-1,5- lactone + H(+) + NADPH; Xref=Rhea:RHEA:15841, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:57955, ChEBI:CHEBI:58349, ChEBI:CHEBI:61548; EC=1.1.1.49; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:15842; Evidence=; Carbohydrate degradation; pentose phosphate pathway; D- ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 1/3. Belongs to the glucose-6-phosphate dehydrogenase family. glucose-6-phosphate dehydrogenase activity carbohydrate metabolic process glucose metabolic process pentose-phosphate shunt oxidoreductase activity oxidoreductase activity, acting on CH-OH group of donors NADP binding oxidation-reduction process uc009toy.1 uc009toy.2 uc009toy.3 
ENSMUST00000004343.7 Wars2 ENSMUST00000004343.7 tryptophanyl tRNA synthetase 2 (mitochondrial) (from RefSeq NR_185000.1) ENSMUST00000004343.1 ENSMUST00000004343.2 ENSMUST00000004343.3 ENSMUST00000004343.4 ENSMUST00000004343.5 ENSMUST00000004343.6 NR_185000 Q8BFV8 Q9CYK1 SYWM_MOUSE uc008qqk.1 uc008qqk.2 uc008qqk.3 Catalyzes the attachment of tryptophan to tRNA(Trp) in a two- step reaction: tryptophan is first activated by ATP to form Trp-AMP and then transferred to the acceptor end of tRNA(Trp). Reaction=ATP + L-tryptophan + tRNA(Trp) = AMP + diphosphate + H(+) + L- tryptophanyl-tRNA(Trp); Xref=Rhea:RHEA:24080, Rhea:RHEA-COMP:9671, Rhea:RHEA-COMP:9705, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57912, ChEBI:CHEBI:78442, ChEBI:CHEBI:78535, ChEBI:CHEBI:456215; EC=6.1.1.2; Evidence=; Mitochondrion matrix Mitochondrion Belongs to the class-I aminoacyl-tRNA synthetase family. nucleotide binding vasculogenesis aminoacyl-tRNA ligase activity tryptophan-tRNA ligase activity ATP binding mitochondrion mitochondrial matrix cytosol plasma membrane translation tRNA aminoacylation for protein translation tryptophanyl-tRNA aminoacylation ligase activity mitochondrial tryptophanyl-tRNA aminoacylation uc008qqk.1 uc008qqk.2 uc008qqk.3 
ENSMUST00000004375.16 Phb2 ENSMUST00000004375.16 prohibitin 2 (from RefSeq NM_007531.2) ENSMUST00000004375.1 ENSMUST00000004375.10 ENSMUST00000004375.11 ENSMUST00000004375.12 ENSMUST00000004375.13 ENSMUST00000004375.14 ENSMUST00000004375.15 ENSMUST00000004375.2 ENSMUST00000004375.3 ENSMUST00000004375.4 ENSMUST00000004375.5 ENSMUST00000004375.6 ENSMUST00000004375.7 ENSMUST00000004375.8 ENSMUST00000004375.9 NM_007531 Phb2 Q3V235 Q3V235_MOUSE uc033iur.1 uc033iur.2 uc033iur.3 Protein with pleiotropic attributes mediated in a cell- compartment- and tissue-specific manner, which include the plasma membrane-associated cell signaling functions, mitochondrial chaperone, and transcriptional co-regulator of transcription factors and sex steroid hormones in the nucleus. Cell membrane Membrane Mitochondrion inner membrane Belongs to the prohibitin family. nucleus cytoplasm mitochondrion mitochondrial outer membrane mitochondrial inner membrane protein import into nucleus mitochondrion organization sister chromatid cohesion protein C-terminus binding response to wounding cell surface postsynaptic density membrane nuclear matrix axon positive regulation of exit from mitosis macromolecular complex amide binding negative regulation of apoptotic process negative regulation of sequence-specific DNA binding transcription factor activity negative regulation of transcription, DNA-templated sphingolipid binding protein N-terminus binding presynaptic active zone protein stabilization positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of ERK1 and ERK2 cascade cellular response to retinoic acid cellular response to hypoxia cell periphery glutamatergic synapse GABA-ergic synapse positive regulation of cell cycle G1/S phase transition regulation of cytochrome-c oxidase activity uc033iur.1 uc033iur.2 uc033iur.3 
ENSMUST00000004378.15 Eno2 ENSMUST00000004378.15 enolase 2, gamma neuronal, transcript variant 14 (from RefSeq NR_176890.1) ENSMUST00000004378.1 ENSMUST00000004378.10 ENSMUST00000004378.11 ENSMUST00000004378.12 ENSMUST00000004378.13 ENSMUST00000004378.14 ENSMUST00000004378.2 ENSMUST00000004378.3 ENSMUST00000004378.4 ENSMUST00000004378.5 ENSMUST00000004378.6 ENSMUST00000004378.7 ENSMUST00000004378.8 ENSMUST00000004378.9 Eno2 NR_176890 Q545V3 Q545V3_MOUSE uc009drs.1 uc009drs.2 uc009drs.3 uc009drs.4 Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Carbohydrate degradation; glycolysis; pyruvate from D- glyceraldehyde 3-phosphate: step 4/5. Belongs to the enolase family. phosphopyruvate hydratase complex magnesium ion binding phosphopyruvate hydratase activity cytosol plasma membrane glycolytic process membrane uc009drs.1 uc009drs.2 uc009drs.3 uc009drs.4 
ENSMUST00000004379.8 Emg1 ENSMUST00000004379.8 EMG1 N1-specific pseudouridine methyltransferase, transcript variant 1 (from RefSeq NM_013536.3) ENSMUST00000004379.1 ENSMUST00000004379.2 ENSMUST00000004379.3 ENSMUST00000004379.4 ENSMUST00000004379.5 ENSMUST00000004379.6 ENSMUST00000004379.7 Emg1 Grcc2f NM_013536 Q542P8 Q542P8_MOUSE uc009drg.1 uc009drg.2 uc009drg.3 uc009drg.4 Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase NEP1 family. nucleus nucleolus methyltransferase activity rRNA methylation methylation rRNA (pseudouridine) methyltransferase activity uc009drg.1 uc009drg.2 uc009drg.3 uc009drg.4 
ENSMUST00000004381.14 Lpcat3 ENSMUST00000004381.14 lysophosphatidylcholine acyltransferase 3, transcript variant 4 (from RefSeq NR_176914.1) B1B362 ENSMUST00000004381.1 ENSMUST00000004381.10 ENSMUST00000004381.11 ENSMUST00000004381.12 ENSMUST00000004381.13 ENSMUST00000004381.2 ENSMUST00000004381.3 ENSMUST00000004381.4 ENSMUST00000004381.5 ENSMUST00000004381.6 ENSMUST00000004381.7 ENSMUST00000004381.8 ENSMUST00000004381.9 Grcc3f MBOA5_MOUSE Mboat5 NR_176914 O35131 Oact5 Q8BNH6 Q91V01 uc009drf.1 uc009drf.2 uc009drf.3 uc009drf.4 Lysophospholipid O-acyltransferase (LPLAT) that catalyzes the reacylation step of the phospholipid remodeling process also known as the Lands cycle (PubMed:18287005, PubMed:25898003). Catalyzes transfer of the fatty acyl chain from fatty acyl-CoA to 1-acyl lysophospholipid to form various classes of phospholipids. Converts 1-acyl lysophosphatidylcholine (LPC) into phosphatidylcholine (PC) (LPCAT activity), 1-acyl lysophosphatidylserine (LPS) into phosphatidylserine (PS) (LPSAT activity) and 1-acyl lysophosphatidylethanolamine (LPE) into phosphatidylethanolamine (PE) (LPEAT activity). Favors polyunsaturated fatty acyl-CoAs as acyl donors compared to saturated fatty acyl-CoAs (PubMed:18287005, PubMed:25898003). Has higher activity for LPC acyl acceptors compared to LPEs and LPSs (PubMed:18287005). Can also transfer the fatty acyl chain from fatty acyl-CoA to 1-O-alkyl lysophospholipid or 1-O-alkenyl lysophospholipid with lower efficiency (PubMed:18287005). Acts as a major LPC O-acyltransferase in liver and intestine (PubMed:25898003, PubMed:26833026). As a component of the liver X receptor/NR1H3 or NR1H2 signaling pathway, mainly catalyzes the incorporation of arachidonate into PCs of endoplasmic reticulum (ER) membranes, increasing membrane dynamics and enabling triacylglycerols transfer to nascent very low-density lipoprotein (VLDL) particles (PubMed:25806685). Promotes processing of sterol regulatory protein SREBF1 in hepatocytes, likely by facilitating the translocation of SREBF1-SCAP complex from ER to the Golgi apparatus (PubMed:28846071). Participates in mechanisms by which the liver X receptor/NR1H3 or NR1H2 signaling pathway counteracts lipid-induced ER stress response and inflammation (PubMed:24206663). Down-regulates hepatic inflammation by limiting arachidonic acid availability for synthesis of inflammatory eicosanoids, such as prostaglandins (PubMed:24206663). In enterocytes, acts as a component of a gut-brain feedback loop that coordinates dietary lipid absorption and food intake. Regulates the abundance of PCs containing linoleate and arachidonate in enterocyte membranes, enabling passive diffusion of fatty acids and cholesterol across the membrane for efficient chylomicron assembly (PubMed:26833026). In the intestinal crypt, acts as a component of dietary-responsive phospholipid-cholesterol axis, regulating the biosynthesis of cholesterol and its mitogenic effects on intestinal stem cells (PubMed:29395055). Reaction=a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2- diacyl-sn-glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:12937, ChEBI:CHEBI:57287, ChEBI:CHEBI:57643, ChEBI:CHEBI:58168, ChEBI:CHEBI:58342; EC=2.3.1.23; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:12938; Evidence=; Reaction=a 1-acyl-sn-glycero-3-phosphoethanolamine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + CoA; Xref=Rhea:RHEA:32995, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342, ChEBI:CHEBI:64381, ChEBI:CHEBI:64612; EC=2.3.1.n7; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:32996; Evidence=; Reaction=a 1-acyl-sn-glycero-3-phospho-L-serine + an acyl-CoA = a 1,2- diacyl-sn-glycero-3-phospho-L-serine + CoA; Xref=Rhea:RHEA:33191, ChEBI:CHEBI:57262, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342, ChEBI:CHEBI:64379; EC=2.3.1.n6; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:33192; Evidence=; Reaction=(9Z,12Z)-octadecadienoyl-CoA + a 1-acyl-sn-glycero-3- phosphocholine = 1-acyl-2-(9Z,12Z)-octadecadienoyl-sn-glycero-3- phosphocholine + CoA; Xref=Rhea:RHEA:37563, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:58168, ChEBI:CHEBI:60000; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37564; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + a 1-acyl-sn-glycero-3- phosphocholine = 1-acyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn- glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:37559, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:58168, ChEBI:CHEBI:75063; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37560; Evidence=; Reaction=1-hexadecanoyl-sn-glycero-3-phosphocholine + dodecanoyl-CoA = 1-hexadecanoyl-2-dodecanoyl-sn-glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:37515, ChEBI:CHEBI:57287, ChEBI:CHEBI:57375, ChEBI:CHEBI:72998, ChEBI:CHEBI:75018; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37516; Evidence=; Reaction=1-hexadecanoyl-sn-glycero-3-phosphocholine + octadecanoyl-CoA = 1-hexadecanoyl-2-octadecanoyl-sn-glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:35987, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:72998, ChEBI:CHEBI:73000; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:35988; Evidence=; Reaction=1-dodecanoyl-sn-glycero-3-phosphocholine + hexadecanoyl-CoA = 1-dodecanoyl-2-hexadecanoyl-sn-glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:37511, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:74966, ChEBI:CHEBI:75017; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37512; Evidence=; Reaction=1-tetradecanoyl-sn-glycero-3-phosphocholine + hexadecanoyl-CoA = 1-tetradecanoyl-2-hexadecanoyl-sn-glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:37655, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:64489, ChEBI:CHEBI:75062; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37656; Evidence=; Reaction=1-hexadecanoyl-sn-glycero-3-phosphocholine + hexadecanoyl-CoA = 1,2-dihexadecanoyl-sn-glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:35983, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:72998, ChEBI:CHEBI:72999; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:35984; Evidence=; Reaction=1-octadecanoyl-sn-glycero-3-phosphocholine + hexadecanoyl-CoA = 1-octadecanoyl-2-hexadecanoyl-sn-glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:37527, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:73858, ChEBI:CHEBI:75026; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37528; Evidence=; Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + hexadecanoyl-CoA = 1-(9Z-octadecenoyl)-2-hexadecanoyl-sn-glycero-3- phosphocholine + CoA; Xref=Rhea:RHEA:37383, ChEBI:CHEBI:28610, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:74667; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37384; Evidence=; Reaction=(9Z)-hexadecenoyl-CoA + 1-hexadecanoyl-sn-glycero-3- phosphocholine = 1-hexadecanoyl-2-(9Z-hexadecenoyl)-sn-glycero-3- phosphocholine + CoA; Xref=Rhea:RHEA:37207, ChEBI:CHEBI:57287, ChEBI:CHEBI:61540, ChEBI:CHEBI:72998, ChEBI:CHEBI:74000; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37208; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-hexadecanoyl-sn-glycero-3- phosphocholine = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3- phosphocholine + CoA; Xref=Rhea:RHEA:35991, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:72998, ChEBI:CHEBI:73001; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:35992; Evidence=; Reaction=(9Z,12Z)-octadecadienoyl-CoA + 1-hexadecanoyl-sn-glycero-3- phosphocholine = 1-hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn- glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:35995, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:72998, ChEBI:CHEBI:73002; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:35996; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-dodecanoyl-sn- glycero-3-phosphocholine = 1-dodecanoyl-2-(5Z,8Z,11Z,14Z)- eicosatetraenoyl-sn-glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:37483, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:74966, ChEBI:CHEBI:74967; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37484; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-hexadecanoyl-sn- glycero-3-phosphocholine = 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:35999, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:72998, ChEBI:CHEBI:73003; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36000; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-octadecanoyl-sn- glycero-3-phosphocholine = 1-octadecanoyl-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:37479, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:73858, ChEBI:CHEBI:74965; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37480; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-eicosanoyl-sn- glycero-3-phosphocholine = 1-eicosanoyl-2-(5Z,8Z,11Z,14Z)- eicosatetraenoyl-sn-glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:37487, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:74968, ChEBI:CHEBI:74970; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37488; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero-3- phosphocholine = 1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:37387, ChEBI:CHEBI:28610, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:74669; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37388; Evidence=; Reaction=(9Z,12Z)-octadecadienoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero- 3-phosphocholine = 1-(9Z)-octadecenoyl-2-(9Z,12Z)-octadecadienoyl-sn- glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:37391, ChEBI:CHEBI:28610, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:74670; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37392; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-(9Z-octadecenoyl)-sn- glycero-3-phosphocholine = 1-(9Z)-octadecenoyl-2-(5Z,8Z,11Z,14Z)- icosatetraenoyl-sn-glycero-3-phosphocholine + CoA; Xref=Rhea:RHEA:37395, ChEBI:CHEBI:28610, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:74671; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37396; Evidence=; Reaction=(9Z,12Z)-octadecadienoyl-CoA + a 1-acyl-sn-glycero-3- phosphoethanolamine = 1-acyl-2-(9Z,12Z)-octadecadienoyl-sn-glycero-3- phosphoethanolamine + CoA; Xref=Rhea:RHEA:37579, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:64381, ChEBI:CHEBI:75069; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37580; Evidence=; Reaction=(9Z,12Z)-octadecadienoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero- 3-phosphoethanolamine = 1-(9Z)-octadecenoyl-2-(9Z,12Z)- octadecadienoyl-sn-glycero-3-phosphoethanolamine + CoA; Xref=Rhea:RHEA:37503, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:74971, ChEBI:CHEBI:74977; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37504; Evidence=; Reaction=(9Z,12Z)-octadecadienoyl-CoA + 1-(10Z-heptadecenoyl)-sn- glycero-3-phosphoethanolamine = 1-(10Z-heptadecenoyl)-2-(9Z,12Z- octadecadienoyl)-sn-glycero-3-phosphoethanolamine + CoA; Xref=Rhea:RHEA:64228, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:149768, ChEBI:CHEBI:149770; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:64229; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + a 1-acyl-sn-glycero-3- phosphoethanolamine = 1-acyl-2-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn- glycero-3-phosphoethanolamine + CoA; Xref=Rhea:RHEA:37575, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:64381, ChEBI:CHEBI:75067; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37576; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-hexadecanoyl-sn- glycero-3-phosphoethanolamine = 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine + CoA; Xref=Rhea:RHEA:36023, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:73004, ChEBI:CHEBI:73009; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36024; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-(9Z-octadecenoyl)-sn- glycero-3-phosphoethanolamine = 1-(9Z)-octadecenoyl-2- (5Z,8Z,11Z,14Z)-eicosatetraenoyl-sn-glycero-3-phosphoethanolamine + CoA; Xref=Rhea:RHEA:37495, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:74971, ChEBI:CHEBI:74975; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37496; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-(10Z-heptadecenoyl)- sn-glycero-3-phosphoethanolamine = 1-(10Z-heptadecenoyl)-2- (5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphoethanolamine + CoA; Xref=Rhea:RHEA:64204, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:149768, ChEBI:CHEBI:149769; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:64205; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-O-(1Z-alkenyl)-sn- glycero-3-phosphoethanolamine = 1-O-(1Z)-alkenyl-2-(5Z,8Z,11Z,14Z)- eicosatetraenoyl-sn-glycero-3-phosphoethanolamine + CoA; Xref=Rhea:RHEA:37635, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:77288, ChEBI:CHEBI:77295; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37636; Evidence=; Reaction=(9Z,12Z)-octadecadienoyl-CoA + a 1-acyl-sn-glycero-3-phospho- L-serine = 1-acyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3-phospho-L- serine + CoA; Xref=Rhea:RHEA:37567, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:64379, ChEBI:CHEBI:75066; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37568; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + a 1-acyl-sn-glycero-3- phospho-L-serine = 1-acyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn- glycero-3-phospho-L-serine + CoA; Xref=Rhea:RHEA:37571, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:64379, ChEBI:CHEBI:75065; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37572; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-hexadecanoyl-sn-glycero-3-phospho-L- serine = 1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-L- serine + CoA; Xref=Rhea:RHEA:37531, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75020, ChEBI:CHEBI:75029; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37532; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero-3- phospho-L-serine = 1,2-di-(9Z)-octadecenoyl-sn-glycero-3-phospho-L- serine + CoA; Xref=Rhea:RHEA:37407, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:74617, ChEBI:CHEBI:74905; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37408; Evidence=; Reaction=(9Z,12Z)-octadecadienoyl-CoA + 1-hexadecanoyl-sn-glycero-3- phospho-L-serine = 1-hexadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn- glycero-3-phospho-L-serine + CoA; Xref=Rhea:RHEA:37535, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:75020, ChEBI:CHEBI:75031; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37536; Evidence=; Reaction=(9Z,12Z)-octadecadienoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycero- 3-phospho-L-serine = 1-(9Z-octadecenoyl)-2-(9Z,12Z-octadienoyl)-sn- glycero-3-phospho-L-serine + CoA; Xref=Rhea:RHEA:37375, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:74617, ChEBI:CHEBI:74892; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37376; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-hexadecanoyl-sn- glycero-3-phospho-L-serine = 1-hexadecanoyl-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phospho-L-serine + CoA; Xref=Rhea:RHEA:37539, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:75020, ChEBI:CHEBI:75032; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37540; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 1-(9Z-octadecenoyl)-sn- glycero-3-phospho-L-serine = 1-(9Z-octadecenoyl)-2-(5Z,8Z,11Z,14Z- eicosatetraenoyl)-sn-glycero-3-phospho-L-serine + CoA; Xref=Rhea:RHEA:37379, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:74617, ChEBI:CHEBI:74897; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37380; Evidence=; Kinetic parameters: KM=7.8 uM for arachidonoyl-CoA (in the presence of LPC C16:0 as cosubstrate) ; KM=44.1 uM for arachidonoyl-CoA (in the presence of LPE C18:1 as cosubstrate) ; KM=28 uM for arachidonoyl-CoA (in the presence of LPS C18:1 as cosubstrate) ; KM=34.5 uM for LPC C16:0 (in the presence of arachidonoyl-CoA as cosubstrate) ; KM=29.7 uM for LPE C18:1 (in the presence of arachidonoyl-CoA as cosubstrate) ; KM=22.3 uM for LPS C18:1 (in the presence of arachidonoyl-CoA as cosubstrate) ; Vmax=1085.5 nmol/min/mg enzyme with arachidonoyl-CoA and LPC C16:0 as substrates ; Vmax=389.25 nmol/min/mg enzyme with arachidonoyl-CoA and LPE C18:1 as substrates ; Vmax=335.75 nmol/min/mg enzyme with arachidonoyl-CoA and LPS C18:1 as substrates ; Lipid metabolism; phospholipid metabolism. Endoplasmic reticulum membrane ; Multi-pass membrane protein Detected ubiquitously, with high expression levels in small intestine, brown adipose tissue, liver, kidney and testis (PubMed:18287005, PubMed:28846071, PubMed:25898003, PubMed:25806685, PubMed:24206663). Expressed in liver and both proximal and distal small intestine (at protein level) (PubMed:25898003). Expressed in peritoneal macrophages (PubMed:24206663). Expressed at late embryonic stages between 18.5 and 19.5 dpc in intestine and liver. Up-regulated in response to liver X receptor/NR1H3 or NR1H2 agonist GW3965 (PubMed:28846071, PubMed:25898003, PubMed:25806685, PubMed:24206663). Up-regulated in peritoneal macrophages upon exposure to 22(R)-hydroxycholesterol (PubMed:24206663). The di-lysine motif confers endoplasmic reticulum localization. Mutant mice are born at the expected Mendelian frequency, but none survives beyond day 2 due to an extensive triacylglycerol accumulation in enterocytes associated with very low blood glucose levels at birth (P1.5) (PubMed:25806685, PubMed:25898003). Conditional knockdown in intestine results in hyperproliferation of the intestinal crypt and increased susceptibility to intestinal tumorigenesis (PubMed:29395055). Belongs to the membrane-bound acyltransferase family. endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process phospholipid metabolic process phospholipid biosynthetic process membrane integral component of membrane transferase activity transferase activity, transferring acyl groups 1-acylglycerophosphocholine O-acyltransferase activity regulation of plasma lipoprotein particle levels uc009drf.1 uc009drf.2 uc009drf.3 uc009drf.4 
ENSMUST00000004389.6 Grcc10 ENSMUST00000004389.6 gene rich cluster, C10 gene (from RefSeq NM_013535.2) C10 C10_MOUSE ENSMUST00000004389.1 ENSMUST00000004389.2 ENSMUST00000004389.3 ENSMUST00000004389.4 ENSMUST00000004389.5 NM_013535 O35127 Q545G8 uc009drn.1 uc009drn.2 uc009drn.3 uc009drn.4 In brain, may be required for corpus callosum development. Cytoplasm Ubiquitously expressed, with higher expression in lung. Detected as early as 10.5 dpc. Belongs to the UPF0456 family. molecular_function cytoplasm post-embryonic development regulation of skeletal muscle contraction nuclear speck corpus callosum morphogenesis third ventricle development psychomotor behavior camera-type eye morphogenesis cognition uc009drn.1 uc009drn.2 uc009drn.3 uc009drn.4 
ENSMUST00000004392.12 Irf5 ENSMUST00000004392.12 interferon regulatory factor 5, transcript variant 2 (from RefSeq NM_012057.4) ENSMUST00000004392.1 ENSMUST00000004392.10 ENSMUST00000004392.11 ENSMUST00000004392.2 ENSMUST00000004392.3 ENSMUST00000004392.4 ENSMUST00000004392.5 ENSMUST00000004392.6 ENSMUST00000004392.7 ENSMUST00000004392.8 ENSMUST00000004392.9 Irf5 NM_012057 Q3U169 Q3U169_MOUSE uc009bdu.1 uc009bdu.2 uc009bdu.3 uc009bdu.4 transcription factor activity, sequence-specific DNA binding nucleus cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cytokine-mediated signaling pathway response to peptidoglycan response to muramyl dipeptide identical protein binding positive regulation of apoptotic process sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of transcription from RNA polymerase II promoter defense response to virus uc009bdu.1 uc009bdu.2 uc009bdu.3 uc009bdu.4 
ENSMUST00000004396.13 Atp6v1f ENSMUST00000004396.13 ATPase, H+ transporting, lysosomal V1 subunit F (from RefSeq NM_025381.2) Atp6s14 ENSMUST00000004396.1 ENSMUST00000004396.10 ENSMUST00000004396.11 ENSMUST00000004396.12 ENSMUST00000004396.2 ENSMUST00000004396.3 ENSMUST00000004396.4 ENSMUST00000004396.5 ENSMUST00000004396.6 ENSMUST00000004396.7 ENSMUST00000004396.8 ENSMUST00000004396.9 NM_025381 Q3U6X0 Q9D1K2 VATF_MOUSE Vatf uc009bdp.1 uc009bdp.2 uc009bdp.3 Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex (By similarity). The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H (By similarity). The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c'', rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR (By similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Peripheral membrane protein Cytoplasmic vesicle, clathrin-coated vesicle membrane ; Peripheral membrane protein Belongs to the V-ATPase F subunit family. ion transport membrane vacuolar proton-transporting V-type ATPase complex proton-transporting V-type ATPase, V1 domain ion transmembrane transport ATPase coupled ion transmembrane transporter activity proton-transporting ATPase activity, rotational mechanism hydrogen ion transmembrane transport uc009bdp.1 uc009bdp.2 uc009bdp.3 
ENSMUST00000004428.14 Clcn5 ENSMUST00000004428.14 chloride channel, voltage-sensitive 5, transcript variant 1 (from RefSeq NM_016691.4) B1ATV0 B1AXN0 CLCN5_MOUSE Clc5 ENSMUST00000004428.1 ENSMUST00000004428.10 ENSMUST00000004428.11 ENSMUST00000004428.12 ENSMUST00000004428.13 ENSMUST00000004428.2 ENSMUST00000004428.3 ENSMUST00000004428.4 ENSMUST00000004428.5 ENSMUST00000004428.6 ENSMUST00000004428.7 ENSMUST00000004428.8 ENSMUST00000004428.9 NM_016691 Q9WVD4 uc009sle.1 uc009sle.2 uc009sle.3 uc009sle.4 uc009sle.5 Proton-coupled chloride transporter. Functions as antiport system and exchanges chloride ions against protons. Important for normal acidification of the endosome lumen. May play an important role in renal tubular function (By similarity). The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels (Probable). Reaction=2 chloride(in) + H(+)(out) = 2 chloride(out) + H(+)(in); Xref=Rhea:RHEA:29567, ChEBI:CHEBI:15378, ChEBI:CHEBI:17996; Evidence=; Interacts with NEDD4 and NEDD4L. Golgi apparatus membrane ; Multi-pass membrane protein Endosome membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9WVD4-1; Sequence=Displayed; Name=2; IsoId=Q9WVD4-2; Sequence=VSP_060655; Kidney specific. Ubiquitinated by NEDD4L in the presence of albumin; which promotes endocytosis and proteasomal degradation. Belongs to the chloride channel (TC 2.A.49) family. ClC- 5/CLCN5 subfamily. Golgi membrane nucleotide binding voltage-gated chloride channel activity chloride channel activity ATP binding endosome early endosome Golgi apparatus cytosol plasma membrane integral component of plasma membrane ion transport chloride transport endocytosis synaptic vesicle endosome membrane antiporter activity solute:proton antiporter activity membrane integral component of membrane chloride ion binding identical protein binding apical part of cell transmembrane transport chloride transmembrane transport hydrogen ion transmembrane transport uc009sle.1 uc009sle.2 uc009sle.3 uc009sle.4 uc009sle.5 
ENSMUST00000004453.9 Gpx6 ENSMUST00000004453.9 glutathione peroxidase 6 (from RefSeq NM_145451.3) ENSMUST00000004453.1 ENSMUST00000004453.2 ENSMUST00000004453.3 ENSMUST00000004453.4 ENSMUST00000004453.5 ENSMUST00000004453.6 ENSMUST00000004453.7 ENSMUST00000004453.8 F2Z3U8 GPX6_MOUSE NM_145451 Q91WR8 uc007pqa.1 uc007pqa.2 uc007pqa.3 This gene encodes a member of the glutathione peroxidase family. Glutathione peroxidases catalyze the reduction of a variety of hydroperoxides using glutathione as a specific electron donor substrate, and thereby protect cells against oxidative damage. Expression of this gene is restricted to embryos and adult olfactory epithelium. The mouse and rat orthologs contain a cysteine (Cys) residue at the active site, unlike the human counterpart, which is a selenoprotein, containing selenocysteine (Sec) instead. [provided by RefSeq, Jul 2017]. ##Evidence-Data-START## Transcript exon combination :: AW012267.1, CB955103.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849381, SAMN00849383 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Reaction=2 glutathione + H2O2 = glutathione disulfide + 2 H2O; Xref=Rhea:RHEA:16833, ChEBI:CHEBI:15377, ChEBI:CHEBI:16240, ChEBI:CHEBI:57925, ChEBI:CHEBI:58297; EC=1.11.1.9; Secreted Belongs to the glutathione peroxidase family. peroxidase activity glutathione peroxidase activity extracellular region response to oxidative stress oxidoreductase activity oxidation-reduction process cellular oxidant detoxification uc007pqa.1 uc007pqa.2 uc007pqa.3 
ENSMUST00000004470.9 Utp20 ENSMUST00000004470.9 UTP20 small subunit processome component (from RefSeq NM_175158.3) E9QK83 E9QK83_MOUSE ENSMUST00000004470.1 ENSMUST00000004470.2 ENSMUST00000004470.3 ENSMUST00000004470.4 ENSMUST00000004470.5 ENSMUST00000004470.6 ENSMUST00000004470.7 ENSMUST00000004470.8 NM_175158 Utp20 uc007grx.1 uc007grx.2 uc007grx.3 uc007grx.4 nucleolus plasma membrane rRNA processing uc007grx.1 uc007grx.2 uc007grx.3 uc007grx.4 
ENSMUST00000004473.15 Spic ENSMUST00000004473.15 Spi-C transcription factor (Spi-1/PU.1 related) (from RefSeq NM_011461.3) ENSMUST00000004473.1 ENSMUST00000004473.10 ENSMUST00000004473.11 ENSMUST00000004473.12 ENSMUST00000004473.13 ENSMUST00000004473.14 ENSMUST00000004473.2 ENSMUST00000004473.3 ENSMUST00000004473.4 ENSMUST00000004473.5 ENSMUST00000004473.6 ENSMUST00000004473.7 ENSMUST00000004473.8 ENSMUST00000004473.9 NM_011461 Q3U064 Q3U0G6 Q3U1E9 Q6P3D7 Q9Z0Y0 SPIC_MOUSE uc007grv.1 uc007grv.2 uc007grv.3 uc007grv.4 uc007grv.5 Controls the development of red pulp macrophages required for red blood cells recycling and iron homeostasis. Transcription factor that binds to the PU-box, a purine-rich DNA sequence (5'-GAGGA[AT]-3') that can act as a lymphoid-specific enhancer. Regulates VCAM1 gene expression. Binds DNA as a monomer. Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6P3D7-1; Sequence=Displayed; Name=2; IsoId=Q6P3D7-2; Sequence=VSP_037734, VSP_037735; Expressed in lymphoid tissues, including spleen, bone marrow and thymus. According to PubMed:19037245, highly expressed in red pulp macrophages and, at lower, levels in B-cells, but not in other cells, including, monocytes, dendritic cells and other tissue macrophages. According to PubMed:10464163 expressed in pre- and mature B-cells but not in immature B-cells; according to PubMed:10187812 not expressed in pre- but predominantly in mature B-cells and at lower levels in macrophages. Cell-autonomous defect in the development of red pulp macrophages, but normal monocyte and other macrophage subsets. Mice show normal trapping of red blood cells in the spleen, but fail to phagocytose these cells efficiently and develop an iron overload localized selectively to splenic red pulp. Belongs to the ETS family. RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding blastocyst development DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell differentiation sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter uc007grv.1 uc007grv.2 uc007grv.3 uc007grv.4 uc007grv.5 
ENSMUST00000004480.5 Sst ENSMUST00000004480.5 somatostatin, transcript variant 1 (from RefSeq NM_009215.2) ENSMUST00000004480.1 ENSMUST00000004480.2 ENSMUST00000004480.3 ENSMUST00000004480.4 NM_009215 Q545V6 Q545V6_MOUSE Sst uc007ytx.1 uc007ytx.2 uc007ytx.3 Inhibits the secretion of pituitary hormones, including that of growth hormone/somatotropin (GH1), PRL, ACTH, luteinizing hormone (LH) and TSH. Also impairs ghrelin- and GnRH-stimulated secretion of GH1 and LH; the inhibition of ghrelin-stimulated secretion of GH1 can be further increased by neuronostatin. Secreted Belongs to the somatostatin family. hormone activity extracellular region extracellular space hyperosmotic response signal transduction response to heat response to organonitrogen compound response to acidic pH response to drug neuronal cell body response to amino acid response to steroid hormone uc007ytx.1 uc007ytx.2 uc007ytx.3 
ENSMUST00000004494.16 Sin3b ENSMUST00000004494.16 transcriptional regulator, SIN3B (yeast), transcript variant 1 (from RefSeq NM_009188.4) ENSMUST00000004494.1 ENSMUST00000004494.10 ENSMUST00000004494.11 ENSMUST00000004494.12 ENSMUST00000004494.13 ENSMUST00000004494.14 ENSMUST00000004494.15 ENSMUST00000004494.2 ENSMUST00000004494.3 ENSMUST00000004494.4 ENSMUST00000004494.5 ENSMUST00000004494.6 ENSMUST00000004494.7 ENSMUST00000004494.8 ENSMUST00000004494.9 Kiaa0700 NM_009188 O54976 Q62141 Q6A013 Q8VCB8 Q8VDZ5 SIN3B_MOUSE uc009mgq.1 uc009mgq.2 uc009mgq.3 uc009mgq.4 uc009mgq.5 uc009mgq.6 Acts as a transcriptional repressor. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Interacts with MAD-MAX heterodimers by binding to MAD. The heterodimer then represses transcription by tethering SIN3B to DNA. Also forms a complex with FOXK1 which represses transcription. With FOXK1, regulates cell cycle progression probably by repressing cell cycle inhibitor genes expression (PubMed:22476904). Interacts with FOXK1/MNF, MXI, MAD, NCOR1 and SAP30. Interaction with SUDS3 enhances the interaction with HDAC1 to form a complex. Interacts with CRY1, HCFC1, MAD3, MAD4, MAEL, REST, RNF220 and SETDB1. Interacts with MYT1L (PubMed:28379941). Interacts with C6orf89 (By similarity). Q62141; Q6PDX6: Rnf220; NbExp=5; IntAct=EBI-591450, EBI-2795840; Q62141; Q8BR65: Suds3; NbExp=5; IntAct=EBI-591450, EBI-591431; Q62141; P01106: MYC; Xeno; NbExp=8; IntAct=EBI-591450, EBI-447544; Q62141-2; P42128: Foxk1; NbExp=11; IntAct=EBI-591466, EBI-878270; Nucleus Event=Alternative splicing; Named isoforms=4; Name=4; IsoId=Q62141-4; Sequence=Displayed; Name=1; IsoId=Q62141-1; Sequence=VSP_014187; Name=2; IsoId=Q62141-2; Sequence=VSP_008225, VSP_008226, VSP_014187; Name=3; IsoId=Q62141-3; Sequence=VSP_008227, VSP_008228, VSP_014187; Ubiquitinated by RNF220 that leads to proteasomal degradation. Sequence=BAD32283.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; negative regulation of transcription from RNA polymerase II promoter chromatin X chromosome Y chromosome XY body chromatin binding transcription corepressor activity protein binding nucleus cytoplasm regulation of transcription, DNA-templated skeletal muscle tissue development histone deacetylation Sin3 complex autosome negative regulation of cell cycle negative regulation of transcription, DNA-templated cardiac muscle tissue development histone deacetylase activity uc009mgq.1 uc009mgq.2 uc009mgq.3 uc009mgq.4 uc009mgq.5 uc009mgq.6 
ENSMUST00000004505.3 Npc1l1 ENSMUST00000004505.3 NPC1 like intracellular cholesterol transporter 1 (from RefSeq NM_207242.2) ENSMUST00000004505.1 ENSMUST00000004505.2 NM_207242 Npc1l1 Z4YJC9 Z4YJC9_MOUSE uc007hyb.1 uc007hyb.2 uc007hyb.3 uc007hyb.4 Reaction=cholesterol(in) = cholesterol(out); Xref=Rhea:RHEA:39747, ChEBI:CHEBI:16113; Evidence=; Belongs to the patched family. lipid transporter activity cholesterol biosynthetic process drug binding membrane integral component of membrane Rab GTPase binding intestinal cholesterol absorption cholesterol transport myosin V binding brush border membrane lipoprotein metabolic process response to drug spanning component of plasma membrane cellular response to sterol depletion uc007hyb.1 uc007hyb.2 uc007hyb.3 uc007hyb.4 
ENSMUST00000004507.11 Ddx56 ENSMUST00000004507.11 DEAD box helicase 56, transcript variant 6 (from RefSeq NR_184558.1) D11Ertd619e DDX56_MOUSE ENSMUST00000004507.1 ENSMUST00000004507.10 ENSMUST00000004507.2 ENSMUST00000004507.3 ENSMUST00000004507.4 ENSMUST00000004507.5 ENSMUST00000004507.6 ENSMUST00000004507.7 ENSMUST00000004507.8 ENSMUST00000004507.9 NR_184558 Noh61 Q9D0R4 uc007hyc.1 uc007hyc.2 uc007hyc.3 Nucleolar RNA helicase that plays a role in various biological processes including innate immunity, ribosome biogenesis or nucleolus organization. Plays an essential role in maintaining nucleolar integrity in planarian stem cells (PubMed:32703285). Maintains embryonic stem cells proliferation by conventional regulation of ribosome assembly and interaction with OCT4 and POU5F1 complex (PubMed:32703285). Regulates antiviral innate immunity by inhibiting the virus-triggered signaling nuclear translocation of IRF3. Mechanistically, acts by disrupting the interaction between IRF3 and importin IPO5. May play a role in later stages of the processing of the pre-ribosomal particles leading to mature 60S ribosomal subunits. Has intrinsic ATPase activity (By similarity). Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; May form homooligomeric complexes. Interacts with IRF3 (By similarity). Interacts with OCT4 and POU5F1 (PubMed:32703285). Nucleus, nucleolus Belongs to the DEAD box helicase family. DDX56/DBP9 subfamily. nucleotide binding nucleic acid binding RNA binding RNA helicase activity helicase activity ATP binding nucleus nucleolus rRNA processing positive regulation of neuron projection development hydrolase activity ribosome biogenesis uc007hyc.1 uc007hyc.2 uc007hyc.3 
ENSMUST00000004508.13 Tmed4 ENSMUST00000004508.13 transmembrane p24 trafficking protein 4 (from RefSeq NM_134020.1) ENSMUST00000004508.1 ENSMUST00000004508.10 ENSMUST00000004508.11 ENSMUST00000004508.12 ENSMUST00000004508.2 ENSMUST00000004508.3 ENSMUST00000004508.4 ENSMUST00000004508.5 ENSMUST00000004508.6 ENSMUST00000004508.7 ENSMUST00000004508.8 ENSMUST00000004508.9 Ers25 NM_134020 Q3TY55 Q8R1V4 TMED4_MOUSE uc007hye.1 uc007hye.2 uc007hye.3 Involved in vesicular protein trafficking, mainly in the early secretory pathway. Involved in the maintenance of the Golgi apparatus. Appears to play a role in the biosynthesis of secreted cargo including processing. Involved in endoplasmic reticulum stress response. May play a role in the regulation of heat-shock response and apoptosis (By similarity). Endoplasmic reticulum membrane ; Single-pass type I membrane protein By brefeldin A, oxidative stress and heat shock, but not by tunicamycin, hypersomotic stress or serum starvation. Belongs to the EMP24/GP25L family. endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus intracellular protein transport ER to Golgi vesicle-mediated transport Golgi organization protein transport membrane integral component of membrane ER to Golgi transport vesicle uc007hye.1 uc007hye.2 uc007hye.3 
ENSMUST00000004554.14 Rps5 ENSMUST00000004554.14 ribosomal protein S5, transcript variant 2 (from RefSeq NM_009095.3) ENSMUST00000004554.1 ENSMUST00000004554.10 ENSMUST00000004554.11 ENSMUST00000004554.12 ENSMUST00000004554.13 ENSMUST00000004554.2 ENSMUST00000004554.3 ENSMUST00000004554.4 ENSMUST00000004554.5 ENSMUST00000004554.6 ENSMUST00000004554.7 ENSMUST00000004554.8 ENSMUST00000004554.9 NM_009095 O08607 P97461 Q91V55 RS5_MOUSE uc009fep.1 uc009fep.2 uc009fep.3 uc009fep.4 Component of the small ribosomal subunit (PubMed:36517592). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:36517592). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (By similarity). Component of the small ribosomal subunit (PubMed:36517592). Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3 (By similarity). Cytoplasm Nucleus, nucleolus Belongs to the universal ribosomal protein uS7 family. ribosomal small subunit assembly RNA binding mRNA binding structural constituent of ribosome ribosome translation regulation of translational fidelity small ribosomal subunit rRNA binding cytosolic small ribosomal subunit ribonucleoprotein complex uc009fep.1 uc009fep.2 uc009fep.3 uc009fep.4 
ENSMUST00000004560.12 Bid ENSMUST00000004560.12 BH3 interacting domain death agonist (from RefSeq NM_007544.4) BID_MOUSE ENSMUST00000004560.1 ENSMUST00000004560.10 ENSMUST00000004560.11 ENSMUST00000004560.2 ENSMUST00000004560.3 ENSMUST00000004560.4 ENSMUST00000004560.5 ENSMUST00000004560.6 ENSMUST00000004560.7 ENSMUST00000004560.8 ENSMUST00000004560.9 NM_007544 P70444 Q99M39 uc009dnv.1 uc009dnv.2 uc009dnv.3 Induces caspases and apoptosis. Counters the protective effect of BCL2. [BH3-interacting domain death agonist p15]: Induces caspase activation and apoptosis (By similarity). Allows the release of cytochrome c (PubMed:9873064). Forms heterodimers either with the pro-apoptotic protein BAX or the anti-apoptotic protein BCL2 (PubMed:21183079). Interacts with PLEKHN1 (By similarity). [BH3-interacting domain death agonist p15]: Interacts with ITCH (PubMed:20392206). Interacts with MTCH2 (PubMed:15899861). P70444; Q07440: Bcl2a1; NbExp=2; IntAct=EBI-783400, EBI-707754; P70444; Q07812: BAX; Xeno; NbExp=2; IntAct=EBI-783400, EBI-516580; PRO_0000223236; Q07812: BAX; Xeno; NbExp=2; IntAct=EBI-2128640, EBI-516580; Cytoplasm Mitochondrion membrane Mitochondrion outer membrane Note=When uncleaved, it is predominantly cytoplasmic. [BH3-interacting domain death agonist p15]: Mitochondrion membrane Note=Translocates to mitochondria as an integral membrane protein. [BH3-interacting domain death agonist p13]: Mitochondrion membrane Note=Associated with the mitochondrial membrane. Intact BH3 motif is required by BIK, BID, BAK, BAD and BAX for their pro-apoptotic activity and for their interaction with anti- apoptotic members of the Bcl-2 family. Apoptotic members of the Bcl-2 family. [BH3-interacting domain death agonist]: TNF-alpha induces caspase- mediated cleavage into a major p15 and minor p13 and p11 products (PubMed:9873064). Cleaved by CASP6 into a major p15 and minor p13 products, leading to release of cytochrome c and subsequent nonalcoholic steatohepatitis (By similarity). [BH3-interacting domain death agonist p15]: Ubiquitinated by ITCH; ubiquitination results in proteasome-dependent degradation. release of cytochrome c from mitochondria response to ischemia protein binding cytoplasm mitochondrion mitochondrial outer membrane cytosol protein targeting to mitochondrion apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process brain development apoptotic mitochondrial changes positive regulation of mitochondrial membrane potential membrane positive regulation of protein complex assembly ubiquitin protein ligase binding mitochondrial membrane response to estradiol regulation of protein oligomerization positive regulation of protein oligomerization positive regulation of protein homooligomerization integral component of mitochondrial membrane autophagy in response to ER overload glial cell apoptotic process regulation of cell proliferation signal transduction in response to DNA damage mitochondrial ATP synthesis coupled electron transport regulation of apoptotic process positive regulation of apoptotic process protein heterodimerization activity macromolecular complex assembly establishment of protein localization to membrane positive regulation of release of cytochrome c from mitochondria extrinsic apoptotic signaling pathway hepatocyte apoptotic process mitochondrial outer membrane permeabilization regulation of mitochondrial membrane permeability involved in apoptotic process negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage regulation of G1/S transition of mitotic cell cycle positive regulation of fibroblast apoptotic process positive regulation of apoptotic signaling pathway positive regulation of extrinsic apoptotic signaling pathway positive regulation of intrinsic apoptotic signaling pathway uc009dnv.1 uc009dnv.2 uc009dnv.3 
ENSMUST00000004565.15 Ralb ENSMUST00000004565.15 v-ral simian leukemia viral oncogene B (from RefSeq NM_022327.5) ENSMUST00000004565.1 ENSMUST00000004565.10 ENSMUST00000004565.11 ENSMUST00000004565.12 ENSMUST00000004565.13 ENSMUST00000004565.14 ENSMUST00000004565.2 ENSMUST00000004565.3 ENSMUST00000004565.4 ENSMUST00000004565.5 ENSMUST00000004565.6 ENSMUST00000004565.7 ENSMUST00000004565.8 ENSMUST00000004565.9 NM_022327 Q3TVS5 Q9JIW9 RALB_MOUSE uc007cis.1 uc007cis.2 uc007cis.3 uc007cis.4 Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles (By similarity). Required both to stabilize the assembly of the exocyst complex and to localize functional exocyst complexes to the leading edge of migrating cells (By similarity). Required for suppression of apoptosis (By similarity). In late stages of cytokinesis, upon completion of the bridge formation between dividing cells, mediates exocyst recruitment to the midbody to drive abscission (By similarity). Involved in ligand-dependent receptor mediated endocytosis of the EGF and insulin receptors (By similarity). Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.2; Evidence=; Alternates between an inactive form bound to GDP and an active form bound to GTP. Activated by a guanine nucleotide- exchange factor (GEF) and inactivated by a GTPase-activating protein (GAP). Interacts with EXOC2/Sec5 and EXOC8/Exo84 (By similarity). Interacts (via effector domain) with RALBP1 (By similarity). Cell membrane ; Lipid-anchor ; Cytoplasmic side Midbody Note=During late cytokinesis, enriched at the midbody. Prenylation is essential for membrane localization. The farnesylated form confers resistance to the proapoptotic and anti-anchorage-dependent growth effects of some geranylgeranyltransferase I inhibitors. Belongs to the small GTPase superfamily. Ras family. nucleotide binding regulation of exocyst assembly positive regulation of protein phosphorylation GTPase activity GTP binding plasma membrane apoptotic process cell cycle signal transduction Ras protein signal transduction cellular response to starvation membrane GDP binding midbody ubiquitin protein ligase binding negative regulation of protein binding positive regulation of protein binding ATPase binding cell division regulation of exocyst localization cellular response to exogenous dsRNA positive regulation of protein serine/threonine kinase activity positive regulation of autophagosome assembly uc007cis.1 uc007cis.2 uc007cis.3 uc007cis.4 
ENSMUST00000004576.8 Tbccd1 ENSMUST00000004576.8 TBCC domain containing 1, transcript variant 1 (from RefSeq NM_001081368.2) ENSMUST00000004576.1 ENSMUST00000004576.2 ENSMUST00000004576.3 ENSMUST00000004576.4 ENSMUST00000004576.5 ENSMUST00000004576.6 ENSMUST00000004576.7 NM_001081368 Q640P7 Q68FM1 Q8CA17 Q9CYG4 TBCC1_MOUSE uc007ysl.1 uc007ysl.2 uc007ysl.3 Plays a role in the regulation of centrosome and Golgi apparatus positioning, with consequences on cell shape and cell migration. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle pole Note=Localizes at the spindle midzone, midbody and basal bodies of primary and motile cilia. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q640P7-1; Sequence=Displayed; Name=2; IsoId=Q640P7-2; Sequence=VSP_028139, VSP_028140; Expressed in brain and testis (at protein level). Belongs to the TBCC family. Sequence=BAC30476.1; Type=Frameshift; Evidence=; cell morphogenesis spindle pole molecular_function cytoplasm microtubule organizing center cytoskeleton regulation of cell shape regulation of cell migration spindle pole centrosome maintenance of centrosome location maintenance of Golgi location uc007ysl.1 uc007ysl.2 uc007ysl.3 
ENSMUST00000004587.11 Clec11a ENSMUST00000004587.11 C-type lectin domain family 11, member a (from RefSeq NM_009131.3) CLC11_MOUSE ENSMUST00000004587.1 ENSMUST00000004587.10 ENSMUST00000004587.2 ENSMUST00000004587.3 ENSMUST00000004587.4 ENSMUST00000004587.5 ENSMUST00000004587.6 ENSMUST00000004587.7 ENSMUST00000004587.8 ENSMUST00000004587.9 NM_009131 O88200 Q8C946 Q9CTF0 Scgf uc009gpb.1 uc009gpb.2 uc009gpb.3 uc009gpb.4 Promotes osteogenesis by stimulating the differentiation of mesenchymal progenitors into mature osteoblasts. Important for repair and maintenance of adult bone. Cytoplasm Secreted Detected in femur where it localizes to trabecular bone of the femur metaphysis, and cortical bone of the proximal femur. Also expressed in trabecular and cortical bone of vertebrae (at protein level). Strongly expressed in osteoblasts and bone marrow stromal cells. Also has very weak expression in B cell progenitors in the bone marrow and T cells in the spleen. O-glycosylated. Probably sulfated on the O-glycans (By similarity). Viable with no gross defects. Trabecular bone volume and bone mineral density is significantly reduced at two months of age, and progressively worsens with age. Bone strength is reduced and fracture healing is impaired. Hematopoiesis appears to be normal. Name=Functional Glycomics Gateway - Glycan Binding; Note=Stem cell growth factor; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_mou_Ctlect_186"; ossification extracellular region extracellular space cytoplasm signal transduction growth factor activity positive regulation of cell proliferation carbohydrate binding uc009gpb.1 uc009gpb.2 uc009gpb.3 uc009gpb.4 
ENSMUST00000004614.15 Zfp110 ENSMUST00000004614.15 zinc finger protein 110, transcript variant 2 (from RefSeq NM_022981.5) A0A0R4J249 A0A0R4J249_MOUSE ENSMUST00000004614.1 ENSMUST00000004614.10 ENSMUST00000004614.11 ENSMUST00000004614.12 ENSMUST00000004614.13 ENSMUST00000004614.14 ENSMUST00000004614.2 ENSMUST00000004614.3 ENSMUST00000004614.4 ENSMUST00000004614.5 ENSMUST00000004614.6 ENSMUST00000004614.7 ENSMUST00000004614.8 ENSMUST00000004614.9 NM_022981 Zfp110 uc009fej.1 uc009fej.2 uc009fej.3 uc009fej.4 Nucleus nucleic acid binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated metal ion binding uc009fej.1 uc009fej.2 uc009fej.3 uc009fej.4 
ENSMUST00000004622.7 Gab2 ENSMUST00000004622.7 growth factor receptor bound protein 2-associated protein 2, transcript variant 1 (from RefSeq NM_010248.2) ENSMUST00000004622.1 ENSMUST00000004622.2 ENSMUST00000004622.3 ENSMUST00000004622.4 ENSMUST00000004622.5 ENSMUST00000004622.6 Gab2 NM_010248 Q3ZB57 Q3ZB57_MOUSE uc009iix.1 uc009iix.2 uc009iix.3 uc009iix.4 Belongs to the GAB family. transmembrane receptor protein tyrosine kinase adaptor activity cytoplasm plasma membrane transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of cell proliferation osteoclast differentiation uc009iix.1 uc009iix.2 uc009iix.3 uc009iix.4 
ENSMUST00000004646.13 Coro1c ENSMUST00000004646.13 coronin, actin binding protein 1C (from RefSeq NM_011779.3) COR1C_MOUSE ENSMUST00000004646.1 ENSMUST00000004646.10 ENSMUST00000004646.11 ENSMUST00000004646.12 ENSMUST00000004646.2 ENSMUST00000004646.3 ENSMUST00000004646.4 ENSMUST00000004646.5 ENSMUST00000004646.6 ENSMUST00000004646.7 ENSMUST00000004646.8 ENSMUST00000004646.9 NM_011779 Q499X7 Q8VCQ5 Q9WUM4 uc008yyu.1 uc008yyu.2 uc008yyu.3 Plays a role in directed cell migration by regulating the activation and subcellular location of RAC1 (PubMed:25074804, PubMed:25925950). Increases the presence of activated RAC1 at the leading edge of migrating cells (PubMed:25074804, PubMed:25925950). Required for normal organization of the cytoskeleton, including the actin cytoskeleton, microtubules and the vimentin intermediate filaments (PubMed:27178841). Required for normal cell proliferation, cell migration, and normal formation of lamellipodia (PubMed:27178841). Plays a role in endoplasmic reticulum-associated endosome fission: localizes to endosome membrane tubules and promotes recruitment of TMCC1, leading to recruitment of the endoplasmic reticulum to endosome tubules for fission. Endosome membrane fission of early and late endosomes is essential to separate regions destined for lysosomal degradation from carriers to be recycled to the plasma membrane (By similarity). Required for normal distribution of mitochondria within cells (PubMed:27178841). Homotrimer (By similarity). Binds F-actin (PubMed:22364218). Interacts with RCC2 (PubMed:25074804). Interacts preferentially with nucleotide-free and GDP-bound RAC1 (PubMed:25074804). Interacts with VIM (via head domain) (PubMed:27178841). Interacts with MICAL2; this interaction recruits MICAL2 to the actin filaments (By similarity). Cell membrane eripheral membrane protein ytoplasmic side ll projection, lamellipodium ll projection, ruffle membrane Cytoplasm, cytoskeleton toplasm, cell cortex Endosome membrane Note=Colocalizes with the actin cytoskeleton in the cytosol, and especially in the cell cortex (PubMed:19651142, PubMed:22364218, PubMed:25074804, PubMed:27178841). Colocalizes with F-actin at the leading edge of lamellipodia (PubMed:22364218). Partially colocalizes with microtubules and vimentin intermediate filaments (PubMed:27178841). Localizes to endosome membrane tubules/buds (By similarity). Detected in skeletal muscle (at protein level) (PubMed:19651142). Detected in fibroblasts (at protein level) (PubMed:27178841). Ubiquitous (PubMed:9778037). The C-terminal coiled-coil domain is essential for cortical membrane localization and oligomerization. No visible phenotype (PubMed:27178841). Fibroblasts from mutant mice display a disordered actin cytoskeleton with a reduced width of the actin stress fibers. Likewise, these cells have several microtubule-organizing centers (MTOCs) and a disordered microbutule network (PubMed:27178841). Belongs to the WD repeat coronin family. actin cortical patch assembly neural crest cell migration regulation of protein phosphorylation negative regulation of protein phosphorylation actin binding cytoplasm endosome cytoskeleton plasma membrane cell cortex phagocytosis actin filament organization endosome membrane regulation of epithelial cell migration negative regulation of epithelial cell migration regulation of fibroblast migration actin cytoskeleton membrane endosomal transport lateral plasma membrane cell migration flotillin complex lamellipodium actin cytoskeleton organization vesicle ruffle membrane cell projection negative regulation of protein kinase activity by regulation of protein phosphorylation establishment of protein localization Rac GTPase binding actin filament binding regulation of focal adhesion assembly negative regulation of focal adhesion assembly membrane fission activation of GTPase activity endosome membrane tubulation regulation of substrate adhesion-dependent cell spreading negative regulation of substrate adhesion-dependent cell spreading regulation of ruffle assembly positive regulation of lamellipodium morphogenesis uc008yyu.1 uc008yyu.2 uc008yyu.3 
ENSMUST00000004655.8 Psg17 ENSMUST00000004655.8 pregnancy specific beta-1-glycoprotein 17 (from RefSeq NM_007677.2) CGM5 ENSMUST00000004655.1 ENSMUST00000004655.2 ENSMUST00000004655.3 ENSMUST00000004655.4 ENSMUST00000004655.5 ENSMUST00000004655.6 ENSMUST00000004655.7 NM_007677 Psg17 Q62056 Q62056_MOUSE uc009fjs.1 uc009fjs.2 uc009fjs.3 protein binding immune response female pregnancy heparan sulfate proteoglycan binding uc009fjs.1 uc009fjs.2 uc009fjs.3 
ENSMUST00000004657.14 Psg19 ENSMUST00000004657.14 pregnancy specific beta-1-glycoprotein 19 (from RefSeq NM_011964.2) ENSMUST00000004657.1 ENSMUST00000004657.10 ENSMUST00000004657.11 ENSMUST00000004657.12 ENSMUST00000004657.13 ENSMUST00000004657.2 ENSMUST00000004657.3 ENSMUST00000004657.4 ENSMUST00000004657.5 ENSMUST00000004657.6 ENSMUST00000004657.7 ENSMUST00000004657.8 ENSMUST00000004657.9 NM_011964 Psg19 Q4KL31 Q4KL31_MOUSE uc009fjr.1 uc009fjr.2 uc009fjr.3 uc009fjr.4 molecular_function cellular_component biological_process uc009fjr.1 uc009fjr.2 uc009fjr.3 uc009fjr.4 
ENSMUST00000004673.15 Ndrg2 ENSMUST00000004673.15 N-myc downstream regulated gene 2, transcript variant 1 (from RefSeq NM_013864.3) ENSMUST00000004673.1 ENSMUST00000004673.10 ENSMUST00000004673.11 ENSMUST00000004673.12 ENSMUST00000004673.13 ENSMUST00000004673.14 ENSMUST00000004673.2 ENSMUST00000004673.3 ENSMUST00000004673.4 ENSMUST00000004673.5 ENSMUST00000004673.6 ENSMUST00000004673.7 ENSMUST00000004673.8 ENSMUST00000004673.9 Kiaa1248 NDRG2_MOUSE NM_013864 Ndr2 Q3TI48 Q3TY42 Q3U3T5 Q69ZN2 Q8C661 Q9QYG0 uc007tnk.1 uc007tnk.2 uc007tnk.3 uc007tnk.4 Contributes to the regulation of the Wnt signaling pathway. Down-regulates CTNNB1-mediated transcriptional activation of target genes, such as CCND1, and may thereby act as tumor suppressor. May be involved in dendritic cell and neuron differentiation (By similarity). Interacts with CTNNB1. Cytoplasm toplasm, perinuclear region Cell projection, growth cone Note=In neurons, seems to concentrate at axonal growth cone. Perinuclear in neurons (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9QYG0-1; Sequence=Displayed; Name=2; IsoId=Q9QYG0-2; Sequence=VSP_019009; Expressed at highest levels in brain, heart and liver, and at lower levels in kidney, colon, skeletal muscle, adrenal gland, ovary and uterus (at protein level). Expression is restricted to the developing heart at the stage of 9.5 dpc, and increases after 11.5 dpc as development of tissues and organs proceeds. Present in many developing tissues including heart, brain, lung, liver, gut, kidney, skeletal muscle, cartilage and epidermis (at protein level). Belongs to the NDRG family. negative regulation of cytokine production nucleus cytoplasm Golgi apparatus signal transduction multicellular organism development nervous system development regulation of vascular endothelial growth factor production Wnt signaling pathway cell differentiation growth cone cell projection perinuclear region of cytoplasm negative regulation of smooth muscle cell proliferation negative regulation of ERK1 and ERK2 cascade regulation of platelet-derived growth factor production glutamatergic synapse uc007tnk.1 uc007tnk.2 uc007tnk.3 uc007tnk.4 
ENSMUST00000004681.14 Pnpla6 ENSMUST00000004681.14 patatin-like phospholipase domain containing 6, transcript variant 2 (from RefSeq NM_015801.3) ENSMUST00000004681.1 ENSMUST00000004681.10 ENSMUST00000004681.11 ENSMUST00000004681.12 ENSMUST00000004681.13 ENSMUST00000004681.2 ENSMUST00000004681.3 ENSMUST00000004681.4 ENSMUST00000004681.5 ENSMUST00000004681.6 ENSMUST00000004681.7 ENSMUST00000004681.8 ENSMUST00000004681.9 NM_015801 Nte PLPL6_MOUSE Q3TRM4 Q7TQD6 Q9R114 uc009krr.1 uc009krr.2 Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho) (PubMed:18086666) (Probable). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Catalyzes the hydrolysis of several naturally occurring membrane-associated lipids. Hydrolyzes lysophospholipids and monoacylglycerols, preferring the 1-acyl to the 2-acyl isomer. Does not catalyze hydrolysis of di- or triacylglycerols or fatty acid amides (By similarity). Reaction=a 1-acyl-sn-glycero-3-phosphocholine + H2O = a fatty acid + H(+) + sn-glycerol 3-phosphocholine; Xref=Rhea:RHEA:15177, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16870, ChEBI:CHEBI:28868, ChEBI:CHEBI:58168; EC=3.1.1.5; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:15178; Evidence=; Reaction=1-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = H(+) + hexadecanoate + sn-glycerol 3-phosphocholine; Xref=Rhea:RHEA:40435, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16870, ChEBI:CHEBI:72998; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40436; Evidence=; Reaction=1-hexadecanoyl-sn-glycero-3-phosphate + H2O = H(+) + hexadecanoate + sn-glycerol 3-phosphate; Xref=Rhea:RHEA:49092, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57518, ChEBI:CHEBI:57597; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:49093; Evidence=; Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = (9Z)- octadecenoate + H(+) + sn-glycerol 3-phosphocholine; Xref=Rhea:RHEA:40807, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16870, ChEBI:CHEBI:28610, ChEBI:CHEBI:30823; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40808; Evidence=; Reaction=1-hexadecanoylglycerol + H2O = glycerol + H(+) + hexadecanoate; Xref=Rhea:RHEA:39959, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:69081; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39960; Evidence=; Reaction=2-hexadecanoylglycerol + H2O = glycerol + H(+) + hexadecanoate; Xref=Rhea:RHEA:39963, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:75455; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39964; Evidence=; Reaction=1-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + glycerol + H(+); Xref=Rhea:RHEA:38487, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30823, ChEBI:CHEBI:75342; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38488; Evidence=; Reaction=2-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + glycerol + H(+); Xref=Rhea:RHEA:38491, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30823, ChEBI:CHEBI:73990; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38492; Evidence=; Reaction=2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + glycerol + H(+); Xref=Rhea:RHEA:26132, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:32395, ChEBI:CHEBI:52392; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:26133; Evidence=; Inhibited by a series a OPs such as mipafox (MPX), phenyl saligenin phosphate (PSP), phenyl dipentyl phosphinate (PDPP), diisopropyl fluorophosphate and paraoxon. pH dependence: Optimum pH is 8.5. ; Endoplasmic reticulum membrane ; Single-pass type III membrane protein Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q3TRM4-1; Sequence=Displayed; Name=2; IsoId=Q3TRM4-2; Sequence=VSP_026390; Name=3; IsoId=Q3TRM4-3; Sequence=VSP_026390, VSP_026391; Name=4; IsoId=Q3TRM4-4; Sequence=VSP_026392, VSP_026393; Expressed in brain, testes and kidney (at protein level) (PubMed:12640454). Expressed ubiquitously in brain of young mice (PubMed:10640712). Reaching adulthood, there is a most prominent expression in Purkinje cells, granule cells and pyramidal neurons of the hippocampus and some large neurons in the medulla oblongata, nucleus dentatus and pons (PubMed:10640712). Expressed in the embryonic respiratory system, different epithelial structures and strongly in the spinal ganglia, during the development. Glycosylated. Embryonically lethal. At 9 dpc, embryos are smaller, and their development is delayed (PubMed:12640454). At 10-11 dpc, the development is arrested with signs of resorption (PubMed:12640454). Heterozygous mice have lower catalytic activity towards the synthetic compound phenyl valerate in the brain and show increased motor activity (PubMed:12640454). Specific chemical modification by some organophosphorus (OP) compounds leads to distal axonopathy in humans and chicken (Probable). The effects of these compounds in mice appear to be less severe (Probable). Mice treated with 1 mg/kg/body weight of ethyl octylphosphonofluoridate (EOPF) have elevated motor activity in the long term (PubMed:12640454). Higher doses result in increased mortality (PubMed:12640454). Belongs to the NTE family. angiogenesis lysophospholipase activity endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process animal organ morphogenesis membrane integral component of membrane lipid catabolic process hydrolase activity phosphatidylcholine metabolic process carboxylic ester hydrolase activity uc009krr.1 uc009krr.2 
ENSMUST00000004683.13 Mcoln1 ENSMUST00000004683.13 mucolipin 1 (from RefSeq NM_053177.1) ENSMUST00000004683.1 ENSMUST00000004683.10 ENSMUST00000004683.11 ENSMUST00000004683.12 ENSMUST00000004683.2 ENSMUST00000004683.3 ENSMUST00000004683.4 ENSMUST00000004683.5 ENSMUST00000004683.6 ENSMUST00000004683.7 ENSMUST00000004683.8 ENSMUST00000004683.9 MCLN1_MOUSE Mcoln1 NM_053177 Q99J21 Trpml1 uc009krq.1 uc009krq.2 uc009krq.3 uc009krq.4 Nonselective cation channel probably playing a role in the regulation of membrane trafficking events and of metal homeostasis (PubMed:29019981). Proposed to play a major role in Ca(2+) release from late endosome and lysosome vesicles to the cytoplasm, which is important for many lysosome-dependent cellular events, including the fusion and trafficking of these organelles, exocytosis and autophagy. Required for efficient uptake of large particles in macrophages in which Ca(2+) release from the lysosomes triggers lysosomal exocytosis. May also play a role in phagosome-lysosome fusion (PubMed:23993788, PubMed:27623384). Involved in lactosylceramide trafficking indicative for a role in the regulation of late endocytic membrane fusion/fission events. By mediating lysosomal Ca(2+) release is involved in regulation of mTORC1 signaling and in mTOR/TFEB-dependent lysosomal adaptation to environmental cues such as nutrient levels (PubMed:25733853). Seems to act as lysosomal active oxygen species (ROS) sensor involved in ROS- induced TFEB activation and autophagy (By similarity). Functions as a Fe(2+) permeable channel in late endosomes and lysosomes. Proposed to play a role in zinc homeostasis probably implicating its association with TMEM163 (By similarity). In adaptive immunity, TRPML2 and TRPML1 may play redundant roles in the function of the specialized lysosomes of B cells (PubMed:17050035). May contribute to cellular lipase activity within the late endosomal pathway or at the cell surface which may be involved in processes of membrane reshaping and vesiculation, especially the growth of tubular structures. However, it is not known, whether it conveys the enzymatic activity directly, or merely facilitates the activity of an associated phospholipase. Reaction=Ca(2+)(in) = Ca(2+)(out); Xref=Rhea:RHEA:29671, ChEBI:CHEBI:29108; Evidence=; Channel activity is controlled by multiple regulatory mechanisms in different subcellular compartments (By similarity). Channel function is transiently modulated by changes in Ca(2+), and inhibited by a reduction of pH; pH changes modify the aggregation state of unitary channels; a negative cooperativity between extracellular/lumenal Ca(2+) and H(+) is suggested (PubMed:29019981). Regulated by phosphoinositides in a compartment-specific manner: in lysosomes activated by PtdIns(3,5)P2 (Phosphatidylinositol 3,5- bisphosphate) and at the plasma membrane inhibited by PtdIns(4,5)P2 (Phosphatidylinositol 4,5-bisphosphate) (PubMed:29019981). Homotetramer (PubMed:29019981). Homooligomer. Can heterooligomerize with MCOLN2 or MCOLN3; heteromeric assemblies have different channel properties as compared to the respective homooligomers and may be tissue-specific. Interacts with PDCD6. Interacts with TMEM163. Interacts with LAPTM4B (By similarity). Late endosome membrane ; Multi-pass membrane protein Lysosome membrane ; Multi-pass membrane protein Cytoplasmic vesicle membrane ; Multi-pass membrane protein Cell projection, phagocytic cup Cytoplasmic vesicle, phagosome membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein Note=Delivery from the trans-Golgi to lysosomes seems to occur mainly in a direct intracellular manner without intermediate delivery to the plasma membrane (By similarity). Under normal conditions, restricted to intracellular compartments so that only a very minor proportion is present at the cell membrane (PubMed:29019981). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99J21-1; Sequence=Displayed; Name=2; IsoId=Q99J21-2; Sequence=VSP_010821; Widely expressed, with the highest expression in brain, liver and kidney. Up-regulated by nutrient starvation. The most N-terminal extracellular/lumenal domain (referred to as I-II linker or polycystin-mucolipin domain) contributes to a structure with a four-fold rotational symmetry in a tetrameric assembly; the structure contains a central highly electronegative pore with a 14 A diameter. The pore is critical for Ca(2+) and pH regulation. The protruding structure formed by the I-II linkers may contain all the interaction sites with lipids and proteins in the endolysosomal lumen. Palmitoylated; involved in association with membranes. Phosphorylation by PKA inhibits channel activity. Dephosphorylation increases activity. Proteolytically cleaved probably involving multiple lysosomal proteases including cathepsin B; inhibits lysosomal channel activity. Belongs to the transient receptor (TC 1.A.4) family. Polycystin subfamily. MCOLN1 sub-subfamily. phagocytic cup adaptive immune response immune system process cation channel activity protein binding lysosome lysosomal membrane endosome late endosome cytosol plasma membrane ion transport calcium ion transport lipid binding membrane integral component of membrane endosomal transport calcium-mediated signaling cytoplasmic vesicle membrane phagocytic vesicle membrane cytoplasmic vesicle late endosome membrane cell projection receptor complex release of sequestered calcium ion into cytosol protein homotetramerization calcium ion transmembrane transport cellular response to calcium ion cellular response to pH NAADP-sensitive calcium-release channel activity autophagosome maturation intracellular phosphatidylinositol-3,5-bisphosphate-sensitive cation channel activity intracellular vesicle cation transmembrane transport ligand-gated calcium channel activity uc009krq.1 uc009krq.2 uc009krq.3 uc009krq.4 
ENSMUST00000004684.13 Arhgef18 ENSMUST00000004684.13 Rho/Rac guanine nucleotide exchange factor 18, transcript variant 2 (from RefSeq NM_133962.4) ARHGI_MOUSE E9QK59 ENSMUST00000004684.1 ENSMUST00000004684.10 ENSMUST00000004684.11 ENSMUST00000004684.12 ENSMUST00000004684.2 ENSMUST00000004684.3 ENSMUST00000004684.4 ENSMUST00000004684.5 ENSMUST00000004684.6 ENSMUST00000004684.7 ENSMUST00000004684.8 ENSMUST00000004684.9 Kiaa0521 NM_133962 Q6A055 Q6P9R4 Q8BYA4 Q8K227 uc009krj.1 uc009krj.2 uc009krj.3 Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPases. May play a role in actin cytoskeleton reorganization in different tissues since its activation induces formation of actin stress fibers. Also acts as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the integrated effects of LPA and other G-protein coupled receptor agonists on actin stress fiber formation, cell shape change and ROS production. Required for EPB41L4B-mediated regulation of the circumferential actomyosin belt in epithelial cells. Interacts with SEPT9; interaction may inhibit GEF activity. Interacts with Gbetagamma subunits GNB1 and GNG2 (By similarity). Interacts with EPB41L4B. Interacts with PATJ (via C-terminus). Cytoplasm Cytoplasm, cytoskeleton Cell membrane Apical cell membrane Note=In unactivated eosinophils, distributed around the cell periphery in the perimembranous region (By similarity). In activated eosinophils, relocates to the tip of the nucleopod, a membrane structure formed during activation when the nucleus moves to one end of the cell, and is also concentrated in membrane protrusions at the opposite end of the cell (By similarity). Localizes to the apical cell membrane in epithelial cells (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q6P9R4-4; Sequence=Displayed; Name=2; IsoId=Q6P9R4-1; Sequence=VSP_059878; Name=3; IsoId=Q6P9R4-2; Sequence=VSP_059878, VSP_059880; Name=4; IsoId=Q6P9R4-3; Sequence=VSP_059878, VSP_059879; guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity cytoplasm cytosol cytoskeleton plasma membrane small GTPase mediated signal transduction regulation of cell shape membrane apical plasma membrane actin cytoskeleton organization regulation of Rho protein signal transduction apical part of cell metal ion binding uc009krj.1 uc009krj.2 uc009krj.3 
ENSMUST00000004686.13 Pex11g ENSMUST00000004686.13 peroxisomal biogenesis factor 11 gamma, transcript variant 2 (from RefSeq NM_026951.3) ENSMUST00000004686.1 ENSMUST00000004686.10 ENSMUST00000004686.11 ENSMUST00000004686.12 ENSMUST00000004686.2 ENSMUST00000004686.3 ENSMUST00000004686.4 ENSMUST00000004686.5 ENSMUST00000004686.6 ENSMUST00000004686.7 ENSMUST00000004686.8 ENSMUST00000004686.9 NM_026951 PX11C_MOUSE Pex11c Q6P6M5 Q9D8P0 Q9D8X4 uc009krm.1 uc009krm.2 uc009krm.3 Promotes membrane protrusion and elongation on the peroxisomal surface. Homodimer. Heterodimer with either PEX11A or PEX11B. Interacts with FIS1. Peroxisome membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6P6M5-1; Sequence=Displayed; Name=2; IsoId=Q6P6M5-2; Sequence=VSP_013540, VSP_013541; Expressed in liver and at much lower levels in heart, kidney and testis. Belongs to the peroxin-11 family. molecular_function peroxisome peroxisomal membrane integral component of peroxisomal membrane membrane integral component of membrane peroxisome fission intrinsic component of peroxisomal membrane macromolecular complex regulation of peroxisome size uc009krm.1 uc009krm.2 uc009krm.3 
ENSMUST00000004715.2 Mospd2 ENSMUST00000004715.2 motile sperm domain containing 2, transcript variant 1 (from RefSeq NM_029730.4) B1AU74 B1AU74_MOUSE ENSMUST00000004715.1 Mospd2 NM_029730 uc009uvv.1 uc009uvv.2 uc009uvv.3 uc009uvv.4 uc009uvv.5 uc009uvv.6 integral component of plasma membrane membrane integral component of membrane positive regulation of neutrophil chemotaxis positive regulation of monocyte chemotaxis uc009uvv.1 uc009uvv.2 uc009uvv.3 uc009uvv.4 uc009uvv.5 uc009uvv.6 
ENSMUST00000004729.5 Etfb ENSMUST00000004729.5 electron transferring flavoprotein, beta polypeptide, transcript variant 2 (from RefSeq NR_075104.1) ENSMUST00000004729.1 ENSMUST00000004729.2 ENSMUST00000004729.3 ENSMUST00000004729.4 ETFB_MOUSE Etfb NR_075104 Q810V3 Q9DCW4 uc009gmt.1 uc009gmt.2 uc009gmt.3 uc009gmt.4 Heterodimeric electron transfer flavoprotein that accepts electrons from several mitochondrial dehydrogenases, including acyl-CoA dehydrogenases, glutaryl-CoA and sarcosine dehydrogenase. It transfers the electrons to the main mitochondrial respiratory chain via ETF- ubiquinone oxidoreductase (By similarity). Required for normal mitochondrial fatty acid oxidation and normal amino acid metabolism (PubMed:25023281). ETFB binds an AMP molecule that probably has a purely structural role (By similarity). Heterodimer composed of ETFA and ETFB. Identified in a complex that contains ETFA, ETFB and ETFRF1. Interacts with ACADM. Mitochondrion matrix The recognition loop recognizes a hydrophobic patch at the surface of interacting dehydrogenases and acts as a static anchor at the interface. Methylated (PubMed:25023281). Trimethylation at Lys-200 and Lys- 203 may negatively regulate the activity in electron transfer from acyl-CoA dehydrogenases. Belongs to the ETF beta-subunit/FixA family. nucleotide binding mitochondrion mitochondrial matrix electron carrier activity mitochondrial electron transfer flavoprotein complex electron transport chain fatty acid beta-oxidation using acyl-CoA dehydrogenase oxidation-reduction process uc009gmt.1 uc009gmt.2 uc009gmt.3 uc009gmt.4 
ENSMUST00000004732.7 Lim2 ENSMUST00000004732.7 lens intrinsic membrane protein 2 (from RefSeq NM_177693.4) ENSMUST00000004732.1 ENSMUST00000004732.2 ENSMUST00000004732.3 ENSMUST00000004732.4 ENSMUST00000004732.5 ENSMUST00000004732.6 LMIP_MOUSE NM_177693 P56563 Q0VEF3 Q3TNV8 Q99PA6 uc009gmp.1 uc009gmp.2 uc009gmp.3 Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis. Seems to be associated with itself or another lens membrane component via disulfide bonds. Membrane; Multi-pass membrane protein. Note=Defects in Lim2 are the cause of the cataractous mouse mutant with total opacity of lens 3 (To3). Mice heterozygous or homozygous for the To3 mutation have total opacity of the lens with a dense cataract. In addition, the To3/To3 homozygotes exhibit microphthalmia, abnormally small eyes. Belongs to the PMP-22/EMP/MP20 family. lens development in camera-type eye structural constituent of eye lens plasma membrane bicellular tight junction membrane integral component of membrane vesicle camera-type eye development uc009gmp.1 uc009gmp.2 uc009gmp.3 
ENSMUST00000004756.14 Wwox ENSMUST00000004756.14 WW domain-containing oxidoreductase, transcript variant 1 (from RefSeq NM_019573.4) ENSMUST00000004756.1 ENSMUST00000004756.10 ENSMUST00000004756.11 ENSMUST00000004756.12 ENSMUST00000004756.13 ENSMUST00000004756.2 ENSMUST00000004756.3 ENSMUST00000004756.4 ENSMUST00000004756.5 ENSMUST00000004756.6 ENSMUST00000004756.7 ENSMUST00000004756.8 ENSMUST00000004756.9 NM_019573 Q8C8J6 Q91WL8 Q920Y2 Q9D2B3 Q9D339 Q9JLF5 WWOX_MOUSE Wox1 uc009nod.1 uc009nod.2 uc009nod.3 uc009nod.4 Putative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. May function synergistically with p53/TP53 to control genotoxic stress-induced cell death. Plays a role in TGFB1 signaling and TGFB1-mediated cell death. Inhibits Wnt signaling, probably by sequestering DVL2 in the cytoplasm (By similarity). May also play a role in tumor necrosis factor (TNF)-mediated cell death. Required for normal bone development. Interacts with TP53, p73/TP73 and MAPK8 (PubMed:11058590, PubMed:12514174). Interacts with MAPT/TAU, RUNX2 and HYAL2 (PubMed:15126504, PubMed:16219768) (By similarity). Forms a ternary complex with TP53 and MDM2 (By similarity). Interacts with ERBB4, LITAF and WBP1. Interacts with DVL1, DVL2 and DVL3. May interact with FAM189B and SCOTIN. Interacts with TNK2. Interacts with TMEM207 (By similarity). Interacts (via WW domain) with VOPP1 (By similarity). Cytoplasm Nucleus Mitochondrion Golgi apparatus Lysosome Note=Partially localizes to the mitochondria (By similarity). Translocates to the nucleus in response to TGFB1 (PubMed:19366691). Translocates to the nucleus upon genotoxic stress or TNF stimulation (PubMed:11058590). Localized to the lysosome probably upon binding to VOPP1 (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=Wox1; IsoId=Q91WL8-1; Sequence=Displayed; Name=2; IsoId=Q91WL8-2; Sequence=VSP_016370, VSP_016371; Name=3; IsoId=Q91WL8-3; Sequence=VSP_016373, VSP_016374; Name=4; IsoId=Q91WL8-4; Sequence=VSP_016372, VSP_016375; Ubiquitous. In the brain, expressed in cortex, striatum, hippocampus and cerebellum (at protein level). Detected in embryonic skeleton, in cranofacial bones, vertebrae and limb bones. Detected in chondrocytes and osteoblasts. Expression starts at 8 dpc in the developing heart. Higher expression in the brain is detected between 12 dpc and 16 dpc. High levels of expression in dorsal root ganglia and spinal nerves were observed throughout all developmental stages. In later developmental stages expression is more prominent in skeletal systems (at protein level). By hyaluronidase. Up-regulated in outer and inner nuclear layers during retinal degeneration. The WW 1 domain mediates interaction with TP73, TFAP2C, LITAF, WBP1 and probably TP53. Phosphorylated upon genotoxic stress. Phosphorylation of Tyr-33 regulates interaction with TP53, TP73 and MAPK8. May also regulate proapoptotic activity. Phosphorylation by TNK2 is associated with polyubiquitination and degradation (By similarity). Ubiquitinated when phosphorylated by TNK2, leading to its degradation. Indistinguishable from wild-type at birth, but die after three weeks due to metabolic syndrome characterized by serum hypoproteinemia, hypoalbuminemia, hypoglycemia, hypocalcemia, hypotriglyceridemia and hypocholesterolemia, growth retardation, decreased bone formation and increased bone resorption. In addition, spontaneous tumor development was observed. Belongs to the short-chain dehydrogenases/reductases (SDR) family. osteoblast differentiation protein binding nucleus cytoplasm mitochondrion Golgi apparatus cytosol plasma membrane microvillus apoptotic process Wnt signaling pathway oxidoreductase activity enzyme binding negative regulation of Wnt signaling pathway positive regulation of transcription from RNA polymerase II promoter skeletal system morphogenesis oxidation-reduction process cellular response to transforming growth factor beta stimulus intrinsic apoptotic signaling pathway by p53 class mediator RNA polymerase II transcription factor complex extrinsic apoptotic signaling pathway positive regulation of extrinsic apoptotic signaling pathway positive regulation of extrinsic apoptotic signaling pathway in absence of ligand transcription coactivator activity uc009nod.1 uc009nod.2 uc009nod.3 uc009nod.4 
ENSMUST00000004770.7 Tyr ENSMUST00000004770.7 tyrosinase, transcript variant 1 (from RefSeq NM_011661.6) ENSMUST00000004770.1 ENSMUST00000004770.2 ENSMUST00000004770.3 ENSMUST00000004770.4 ENSMUST00000004770.5 ENSMUST00000004770.6 NM_011661 Q91XK0 Q91XK0_MOUSE Tyr uc029wmt.1 uc029wmt.2 uc029wmt.3 Reaction=2 5,6-dihydroxyindole-2-carboxylate + O2 = 2 H2O + 2 indole-5,6-quinone-2-carboxylate; Xref=Rhea:RHEA:68388, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16875, ChEBI:CHEBI:177869; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:68389; Evidence=; Name=Cu(2+); Xref=ChEBI:CHEBI:29036; Evidence=; Forms an OPN3-dependent complex with DCT in response to blue light in melanocytes. Melanosome membrane ; Single-pass type I membrane protein Membrane ; Single-pass type I membrane protein Belongs to the tyrosinase family. monophenol monooxygenase activity copper ion binding nucleus cytoplasm cytosol response to UV membrane integral component of membrane oxidoreductase activity response to vitamin D melanin biosynthetic process melanosome intracellular membrane-bounded organelle pigmentation metal ion binding perinuclear region of cytoplasm response to cAMP oxidation-reduction process uc029wmt.1 uc029wmt.2 uc029wmt.3 
ENSMUST00000004774.4 Aqp1 ENSMUST00000004774.4 aquaporin 1 (from RefSeq NM_007472.2) AQP1_MOUSE Aqp1 ENSMUST00000004774.1 ENSMUST00000004774.2 ENSMUST00000004774.3 NM_007472 Q02013 Q542P1 Q91VY8 uc009caq.1 uc009caq.2 uc009caq.3 Forms a water-specific channel that provides the plasma membranes of red cells and kidney proximal tubules with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient (PubMed:12133842). Component of the ankyrin-1 complex, a multiprotein complex involved in the stability and shape of the erythrocyte membrane (By similarity). Homotetramer. Component of the ankyrin-1 complex in the erythrocyte, composed of ANK1, RHCE, RHAG, SLC4A1, EPB42, GYPA, GYPB and AQP1 (By similarity). Interacts with EPHB2; involved in endolymph production in the inner ear (PubMed:10839360). Identified in a complex with STOM. Interacts (via the N-terminal) with ANK1 (via ANK 1-5 repeats). Interacts (via the C-terminal) with EPB42 (By similarity). Cell membrane ; Multi-pass membrane protein Detected in erythrocytes (at protein level) (PubMed:12133842). In the kidney, expressed on luminal and basal borders of proximal tubules and in the thin limb of Henle's loop (at protein level) (PubMed:31605441). Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). Mutant mice are born at the expected Mendelian rate and appear healthy and normal, but display strongly reduced urine osmolality. Besides, their erythrocytes show reduced water permeability. Mice lacking both Aqp1 and Slc14a1 are born at the expected Mendelian ratio, but do not thrive; half of them die within ten days after birth and none are alive after two weeks. Urine osmolality is somewhat lower than that observed with mice lacking only Aqp1. Besides, erythrocyte water permeability is significantly lower than in mice lacking only Aqp1. Pharmacologically inhibited by submillimolar concentrations of mercury. Belongs to the MIP/aquaporin (TC 1.A.8) family. glomerular filtration renal water transport intracellular cGMP activated cation channel activity potassium channel activity water transmembrane transporter activity nucleus cytoplasm plasma membrane integral component of plasma membrane caveola brush border potassium ion transport water transport cell volume homeostasis hyperosmotic response ammonium transmembrane transporter activity response to hormone basal plasma membrane positive regulation of lamellipodium assembly positive regulation of epithelial cell migration potassium ion transmembrane transporter activity glycerol transmembrane transporter activity water channel activity channel activity carbon dioxide transport ammonium transport glycerol transport membrane integral component of membrane basolateral plasma membrane apical plasma membrane sensory perception of pain cellular homeostasis cGMP-mediated signaling symbiont-containing vacuole lateral ventricle development transmembrane transporter activity water homeostasis nitric oxide transmembrane transporter activity nitric oxide transport positive regulation of cell migration axon establishment or maintenance of actin cytoskeleton polarity brush border membrane nuclear membrane dense core granule membrane neuronal cell body membrane secretion by cell secretory granule organization ion transmembrane transport cellular response to UV transepithelial water transport carbon dioxide transmembrane transport carbon dioxide transmembrane transporter activity wound healing sarcolemma response to drug hyperosmotic salinity response identical protein binding neuron projection negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process response to estrogen axon terminus lipid digestion apical part of cell positive regulation of angiogenesis ephrin receptor binding positive regulation of saliva secretion positive regulation of fibroblast proliferation camera-type eye morphogenesis corticotropin secretion transmembrane transport extracellular exosome renal water absorption cellular response to hydrogen peroxide cellular response to inorganic substance cellular response to mechanical stimulus cellular response to copper ion cellular response to mercury ion cellular response to retinoic acid cellular response to cAMP cellular response to hypoxia cellular response to salt stress cellular hyperosmotic response cellular response to dexamethasone stimulus cellular response to nitric oxide potassium ion transmembrane transport metanephric descending thin limb development metanephric proximal straight tubule development metanephric proximal convoluted tubule segment 2 development metanephric glomerulus vasculature development ammonium transmembrane transport maintenance of symbiont-containing vacuole by host cation transmembrane transport symbiont-containing vacuole membrane uc009caq.1 uc009caq.2 uc009caq.3 
ENSMUST00000004784.11 Cnn2 ENSMUST00000004784.11 calponin 2 (from RefSeq NM_007725.2) Cnn2 ENSMUST00000004784.1 ENSMUST00000004784.10 ENSMUST00000004784.2 ENSMUST00000004784.3 ENSMUST00000004784.4 ENSMUST00000004784.5 ENSMUST00000004784.6 ENSMUST00000004784.7 ENSMUST00000004784.8 ENSMUST00000004784.9 NM_007725 Q543F3 Q543F3_MOUSE uc007gaz.1 uc007gaz.2 uc007gaz.3 Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity. Belongs to the calponin family. actin binding calmodulin binding cytoskeleton cytoskeleton organization actomyosin structure organization uc007gaz.1 uc007gaz.2 uc007gaz.3 
ENSMUST00000004786.10 Polr2e ENSMUST00000004786.10 polymerase (RNA) II (DNA directed) polypeptide E (from RefSeq NM_025554.2) ENSMUST00000004786.1 ENSMUST00000004786.2 ENSMUST00000004786.3 ENSMUST00000004786.4 ENSMUST00000004786.5 ENSMUST00000004786.6 ENSMUST00000004786.7 ENSMUST00000004786.8 ENSMUST00000004786.9 NM_025554 Polr2e Q80UW8 RPAB1_MOUSE uc007gbi.1 uc007gbi.2 uc007gbi.3 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non- coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Pol II is the central component of the basal RNA polymerase II transcription machinery. Pols are composed of mobile elements that move relative to each other. In Pol II, POLR2E/RPABC1 is part of the lower jaw surrounding the central large cleft and thought to grab the incoming DNA template. Seems to be the major component in this process (By similarity). Component of the RNA polymerase I (Pol I), RNA polymerase II (Pol II) and RNA polymerase III (Pol III) complexes consisting of at least 13, 12 and 17 subunits, respectively. In RNA Pol II, this subunit is present in 2-fold molar excess over the other subunits. The transcriptionally active Pol III complex consists of a ten-subunit horseshoe-shaped catalytic core composed of POLR3A/RPC1, POLR3B/RPC2, POLR1C/RPAC1, POLR1D/RPAC2, POLR3K/RPC10, POLR2E/RPABC1, POLR2F/RPABC2, POLR2H/RPABC3, POLR2K/RPABC4 and POLR2L/RPABC5; a mobile stalk composed of two subunits POLR3H/RPC8 and CRCP/RPC9, protruding from the core and functioning primarily in transcription initiation; and additional subunits homologous to general transcription factors of the RNA polymerase II machinery, POLR3C/RPC3-POLR3F/RPC6-POLR3G/RPC7 heterotrimer required for transcription initiation and POLR3D/RPC4- POLR3E/RPC5 heterodimer involved in both transcription initiation and termination. Component of the PAQosome complex which is responsible for the biogenesis of several protein complexes and which consists of R2TP complex members RUVBL1, RUVBL2, RPAP3 and PIH1D1, URI complex members PFDN2, PFDN6, PDRG1, UXT and URI1 as well as ASDURF, POLR2E and DNAAF10/WDR92. Interacts with URI1. Nucleus Belongs to the archaeal Rpo5/eukaryotic RPB5 RNA polymerase subunit family. DNA binding DNA-directed 5'-3' RNA polymerase activity nucleus nucleoplasm DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase III complex DNA-directed RNA polymerase I complex transcription, DNA-templated transcription from RNA polymerase I promoter transcription from RNA polymerase II promoter transcription from RNA polymerase III promoter RNA polymerase I activity RNA polymerase II activity RNA polymerase III activity uc007gbi.1 uc007gbi.2 uc007gbi.3 
ENSMUST00000004829.13 Cd244a ENSMUST00000004829.13 CD244 molecule A, transcript variant 4 (from RefSeq NR_187116.1) 2b4 CD244_MOUSE Cd244 ENSMUST00000004829.1 ENSMUST00000004829.10 ENSMUST00000004829.11 ENSMUST00000004829.12 ENSMUST00000004829.2 ENSMUST00000004829.3 ENSMUST00000004829.4 ENSMUST00000004829.5 ENSMUST00000004829.6 ENSMUST00000004829.7 ENSMUST00000004829.8 ENSMUST00000004829.9 NR_187116 Nmrk O88654 Q07763 Q3UV86 Q9JIE0 uc007dos.1 uc007dos.2 uc007dos.3 Heterophilic receptor of the signaling lymphocytic activation molecule (SLAM) family; its ligand is CD48. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Acts as activating natural killer (NK) cell receptor (PubMed:8326140, PubMed:12734329, PubMed:19648922, PubMed:20962259). Activating function implicates association with SH2D1A and FYN. Downstreaming signaling involves predominantly VAV1, and, to a lesser degree, INPP5D/SHIP1 and CBL. Signal attenuation in the absence of SH2D1A is proposed to be dependent on INPP5D and to a lesser extent PTPN6/SHP-1 and PTPN11/SHP-2. Stimulates NK cell cytotoxicity, production of IFN-gamma and granule exocytosis (PubMed:8326140, PubMed:15169881, PubMed:15998796, PubMed:22683124). Optimal expansion and activation of NK cells seems to be dependent on the engagement of CD244 with CD48 expressed on neighboring NK cells (PubMed:15905190). Regulation of NK cell activity by adapters Sh2d1b and Sh2d1b2 is reported conflictingly (PubMed:16127454, PubMed:16425036). Acts as costimulator in NK activation by enhancing signals by other NK receptors such as NCR3 and NCR1. At early stages of NK cell differentiation may function as an inhibitory receptor possibly ensuring the self-tolerance of developing NK cells (By similarity). Involved in the regulation of CD8(+) T-cell proliferation; expression on activated T-cells and binding to CD48 provides costimulatory-like function for neighboring T-cells (PubMed:11739483). Inhibits inflammatory responses in dendritic cells (DCs) (PubMed:25643613). Interacts with CD48 (PubMed:9841922, PubMed:15905190). Interacts (via phosphorylated ITSM 1-4) with SH2D1A/SAP (via SH2 domain); SH2D1A probably mediates association with FYN. Interacts (via phosphorylated ITSM 3) with PTPN11/SHP-2, INPP5D/SHIP1, PTPN6/SHP-1 and CSK; binding of SH2D1A prevents association with PTPN11, PTPN6 and CSK. Interacts weakly (via phosphorylated ITSM 2) with PTPN11 and CSK. Interacts with SH2D1B and SH2D1B2. Interacts with MHC class I proteins; the interaction is proposed to prevent self-killing of NK cells (By similarity). Membrane ; Single-pass type I membrane protein Cell membrane Note=Receptor engagement results in a recruitment to lipid drafts essential for the subsequent tyrosine phosphorylation of the ITSMs. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=m2B4L; IsoId=Q07763-1; Sequence=Displayed; Name=2; Synonyms=m2B4S; IsoId=Q07763-2; Sequence=VSP_010401, VSP_010402; Expressed in natural killer (NK) cells, T cells and dendritic cells. The ITSMs (immunoreceptor tyrosine-based switch motifs) with the consensus sequence T-X-Y-X-X-[VI] present in SLAM family receptors have overlapping specificity for activating and inhibitory SH2 domain- containing binding partners. Especially they mediate the interaction with the SH2 domain of SH2D1A and SH2D1B. A 'three-pronged' mechanism is proposed involving threonine (position -2), phosphorylated tyrosine (position 0) and valine/isoleucine (position +3). N-linked glycosylation is essential for the binding to its ligand CD48. Also O-glycosylated, in contrast, O-linked sialylation has a negative impact on ligand binding (By similarity). Phosphorylated by FYN and CSK at tyrosine residues following activation. Coligation with inhibitory receptors such as KIR2DL1 inhibits phosphorylation upon contact of NK cells with sensitive target cells. myeloid dendritic cell activation adaptive immune response natural killer cell activation involved in immune response immune system process protein binding plasma membrane immune response external side of plasma membrane membrane integral component of membrane positive regulation of natural killer cell proliferation signaling receptor activity MHC class I protein binding innate immune response positive regulation of inositol phosphate biosynthetic process positive regulation of granzyme B production positive regulation of interferon-gamma secretion positive regulation of interleukin-8 secretion positive regulation of CD8-positive, alpha-beta T cell proliferation uc007dos.1 uc007dos.2 uc007dos.3 
ENSMUST00000004868.6 Mtfp1 ENSMUST00000004868.6 mitochondrial fission process 1 (from RefSeq NM_026443.4) ENSMUST00000004868.1 ENSMUST00000004868.2 ENSMUST00000004868.3 ENSMUST00000004868.4 ENSMUST00000004868.5 MTFP1_MOUSE Mtp18 NM_026443 Q9CRB8 Q9CZX4 uc007hug.1 uc007hug.2 uc007hug.3 Involved in the mitochondrial division probably by regulating membrane fission. Loss-of-function leads to apoptosis (By similarity). Mitochondrion inner membrane ; Multi-pass membrane protein Belongs to the MTFP1 family. mitochondrial fission molecular_function mitochondrion mitochondrial inner membrane apoptotic process mitochondrial membrane organization response to muscle activity membrane integral component of membrane uc007hug.1 uc007hug.2 uc007hug.3 
ENSMUST00000004910.12 Eif2b2 ENSMUST00000004910.12 eukaryotic translation initiation factor 2B, subunit 2 beta (from RefSeq NM_145445.4) EI2BB_MOUSE ENSMUST00000004910.1 ENSMUST00000004910.10 ENSMUST00000004910.11 ENSMUST00000004910.2 ENSMUST00000004910.3 ENSMUST00000004910.4 ENSMUST00000004910.5 ENSMUST00000004910.6 ENSMUST00000004910.7 ENSMUST00000004910.8 ENSMUST00000004910.9 NM_145445 Q99LD9 uc007ogr.1 uc007ogr.2 uc007ogr.3 This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. Mutations in the human gene are associated with ovarioleukodystrophy and leukoencephalopathy with vanishing white matter. [provided by RefSeq, Sep 2015]. ##Evidence-Data-START## Transcript exon combination :: AK049731.1, AK076195.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit. Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed. Activated by the chemical integrated stress response (ISR) inhibitor ISRIB which stimulates guanine nucleotide exchange factor activity for both phosphorylated and unphosphorylated eIF2. Component of the translation initiation factor 2B (eIF2B) complex which is a heterodecamer of two sets of five different subunits: alpha, beta, gamma, delta and epsilon. Subunits alpha, beta and delta comprise a regulatory subcomplex and subunits epsilon and gamma comprise a catalytic subcomplex. Within the complex, the hexameric regulatory complex resides at the center, with the two heterodimeric catalytic subcomplexes bound on opposite sides. Cytoplasm, cytosol Belongs to the eIF-2B alpha/beta/delta subunits family. ovarian follicle development translation initiation factor activity guanyl-nucleotide exchange factor activity ATP binding GTP binding cytoplasm eukaryotic translation initiation factor 2B complex translation translational initiation regulation of translational initiation central nervous system development response to heat response to glucose oligodendrocyte development axon myelination response to peptide hormone cellular metabolic process positive regulation of axon extension T cell receptor signaling pathway uc007ogr.1 uc007ogr.2 uc007ogr.3 
ENSMUST00000004920.4 Ulk2 ENSMUST00000004920.4 unc-51 like kinase 2 (from RefSeq NM_013881.4) ENSMUST00000004920.1 ENSMUST00000004920.2 ENSMUST00000004920.3 Kiaa0623 NM_013881 Q80TV7 Q9QY01 Q9WTP4 ULK2_MOUSE uc007jih.1 uc007jih.2 uc007jih.3 uc007jih.4 Serine/threonine-protein kinase involved in autophagy in response to starvation. Acts upstream of phosphatidylinositol 3-kinase PIK3C3 to regulate the formation of autophagophores, the precursors of autophagosomes. Part of regulatory feedback loops in autophagy: acts both as a downstream effector and a negative regulator of mammalian target of rapamycin complex 1 (mTORC1) via interaction with RPTOR. Activated via phosphorylation by AMPK, also acts as a negative regulator of AMPK through phosphorylation of the AMPK subunits PRKAA1, PRKAB2 and PRKAG1. May phosphorylate ATG13/KIAA0652, FRS2, FRS3 and RPTOR; however such data need additional evidences. Not involved in ammonia-induced autophagy or in autophagic response of cerebellar granule neurons (CGN) to low potassium concentration. Plays a role early in neuronal differentiation and is required for granule cell axon formation: may govern axon formation via Ras-like GTPase signaling and through regulation of the Rab5-mediated endocytic pathways within developing axons. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Component of a complex consisting of ATG13/KIAA0652, ULK1 and RB1CC1/FIP200. Interacts (via C-terminus) with ATG13/KIAA0652. Associates with the mammalian target of rapamycin complex 1 (mTORC1) through an interaction with RPTOR (By similarity). Interacts with SYNGAP1. Cytoplasmic vesicle membrane ; Peripheral membrane protein Note=Localizes to pre-autophagosomal membrane. Widely expressed. The CTD-like region mediates membrane-binding and incorporation into large protein complexes. Autophosphorylated. In response to nutrient limitation, probably phosphorylated and activated by AMPK, leading to activate autophagy. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. APG1/unc-51/ULK1 subfamily. Sequence=BAC65613.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; autophagosome assembly nucleotide binding pre-autophagosomal structure protein kinase activity protein serine/threonine kinase activity protein binding ATP binding cytosol protein phosphorylation autophagy signal transduction nervous system development axonogenesis regulation of autophagy membrane kinase activity phosphorylation transferase activity cytoplasmic vesicle membrane cytoplasmic vesicle pre-autophagosomal structure membrane response to starvation protein autophosphorylation negative regulation of collateral sprouting axon extension autophagy of host cells involved in interaction with symbiont uc007jih.1 uc007jih.2 uc007jih.3 uc007jih.4 
ENSMUST00000004936.10 Ccl24 ENSMUST00000004936.10 C-C motif chemokine ligand 24, transcript variant 1 (from RefSeq NM_019577.5) CCL24_MOUSE Ccl24 ENSMUST00000004936.1 ENSMUST00000004936.2 ENSMUST00000004936.3 ENSMUST00000004936.4 ENSMUST00000004936.5 ENSMUST00000004936.6 ENSMUST00000004936.7 ENSMUST00000004936.8 ENSMUST00000004936.9 NM_019577 Q9JKC0 Scya24 uc008zyn.1 uc008zyn.2 uc008zyn.3 Chemotactic for resting T-lymphocytes, and eosinophils (PubMed:15647285). Has lower chemotactic activity for neutrophils but none for monocytes and activated lymphocytes. Is a strong suppressor of colony formation by a multipotential hematopoietic progenitor cell line. Binds to CCR3 (By similarity). Secreted Highest expression in jejunum and spleen. Lower levels found in liver and lung. No expression detected in kidney, thymus, brain or testis. By interleukin-4 and allergen challenge with A.fumigatus (PubMed:11067944). By interleukin-13 (IL13) (PubMed:15647285). No visible phenotype in normal conditions (PubMed:15647285). Mice display a normal base-line eosinophil levels in the hematopoietic tissues and gastrointestinal tract (PubMed:15647285). However, following intratracheal IL13 administration, mice show a profound reduction in airway eosinophilia (PubMed:15647285). Belongs to the intercrine beta (chemokine CC) family. positive regulation of endothelial cell proliferation monocyte chemotaxis cytokine activity extracellular region extracellular space chemotaxis inflammatory response immune response cytoskeleton organization G-protein coupled receptor signaling pathway chemokine activity regulation of cell shape positive regulation of cell migration neutrophil chemotaxis positive regulation of actin filament polymerization CCR3 chemokine receptor binding positive regulation of GTPase activity positive regulation of angiogenesis receptor agonist activity CCR chemokine receptor binding eosinophil chemotaxis lymphocyte chemotaxis positive regulation of inflammatory response chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor positive regulation of eosinophil migration uc008zyn.1 uc008zyn.2 uc008zyn.3 
ENSMUST00000004943.2 Tmed11 ENSMUST00000004943.2 transmembrane p24 trafficking protein 11 (from RefSeq NM_026109.2) ENSMUST00000004943.1 NM_026109 Q9D2R4 TMD11_MOUSE uc008ypd.1 uc008ypd.2 Part of a complex whose function is to bind Ca(2+) to the ER membrane and thereby regulate the retention of ER resident proteins. Endoplasmic reticulum membrane ; Single-pass type I membrane protein Belongs to the EMP24/GP25L family. molecular_function endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus intracellular protein transport ER to Golgi vesicle-mediated transport Golgi organization membrane integral component of membrane ER to Golgi transport vesicle uc008ypd.1 uc008ypd.2 
ENSMUST00000004949.8 Traf6 ENSMUST00000004949.8 TNF receptor-associated factor 6, transcript variant 1 (from RefSeq NM_009424.3) ENSMUST00000004949.1 ENSMUST00000004949.2 ENSMUST00000004949.3 ENSMUST00000004949.4 ENSMUST00000004949.5 ENSMUST00000004949.6 ENSMUST00000004949.7 NM_009424 P70196 Q6P9M0 Q8BLV2 TRAF6_MOUSE uc008lhm.1 uc008lhm.2 uc008lhm.3 uc008lhm.4 This gene encodes a member of the TNF receptor associated factor (TRAF) family of adaptor proteins that mediate signaling events from members of the TNF receptor and Toll/IL-1 receptor families to activate transcription factors such as NF-kappa-B and AP-1. The product of this gene is essential for perinatal and postnatal survival. Mice deficient in this protein exhibit osteopetrosis and defective in development of epidermal appendixes, normal B cell differentiation, lymph node organogenesis, interleukin-1 signaling, lipopolysaccharide signaling and neural tube closure. This protein possesses ubiquitin ligase activity. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]. E3 ubiquitin ligase that, together with UBE2N and UBE2V1, mediates the synthesis of 'Lys-63'-linked-polyubiquitin chains conjugated to proteins, such as ECSIT, IKBKG, IRAK1, AKT1 and AKT2 (PubMed:15322147, PubMed:17633018). Also mediates ubiquitination of free/unanchored polyubiquitin chain that leads to MAP3K7 activation (By similarity). Leads to the activation of NF-kappa-B and JUN. Seems to also play a role in dendritic cells (DCs) maturation and/or activation (PubMed:14499111). Represses c-Myb-mediated transactivation, in B- lymphocytes (By similarity). Adapter protein that seems to play a role in signal transduction initiated via TNF receptor, IL-1 receptor and IL-17 receptor (PubMed:10421844, PubMed:10215628). Regulates osteoclast differentiation by mediating the activation of adapter protein complex 1 (AP-1) and NF-kappa-B, in response to RANK-L stimulation (PubMed:10421844, PubMed:17092936). Together with MAP3K8, mediates CD40 signals that activate ERK in B-cells and macrophages, and thus may play a role in the regulation of immunoglobulin production (PubMed:12881420). Participates also in the TCR signaling by ubiquitinating LAT (By similarity). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Protein modification; protein ubiquitination. Homotrimer (By similarity). Homooligomer (By similarity). N- terminal region is dimeric while C-terminal region is trimeric; maybe providing a mode of oligomerization. Upon IL1B treatment, forms a complex with PELI1, IRAK1, IRAK4 and MYD88; this complex recruits MAP3K7/TAK1, TAB1 and TAB2 to mediate NF-kappa-B activation. Direct binding of SMAD6 to PELI1 prevents the complex formation and hence negatively regulates IL1R-TLR signaling and eventually NF-kappa-B- mediated gene expression. Binds to TNFRSF5/CD40 and TNFRSF11A/RANK (By similarity). Associates with NGFR, TNFRSF17, IRAK2, IRAK3, PELI2, PELI3, RIPK2, MAP3K1, MAP3K5, MAP3K14, CSK, TRAF, TRAF-interacting protein TRIP and TNF receptor associated protein TDP2. Binds UBE2V1. Interacts with MAVS/IPS1. Interacts with TAX1BP1; this interaction mediates deubiquitination of TRAF6 and inhibition of NF-kappa-B activation (By similarity). Interacts with IL17R. Interacts with SQSTM1 bridging NTRK1 and NGFR. Forms a ternary complex with SQSTM1 and PRKCZ. Interacts with IL1RL1. Interacts with AJUBA (By similarity). Interacts with TRAFD1. Interacts with TICAM2. Interacts with ZFAND5. Interacts with ARRB1 and ARRB2 (By similarity). Interacts with MAP3K7 and TAB1/MAP3K7IP1; during IL-1 signaling. Interacts with UBE2N. Interacts with TGFBR1, HDAC1 and RANGAP1. Interacts with AKT1, AKT2 and AKT3. Interacts (via TRAF domains) with NUMBL (via C-terminal) (By similarity). Interacts (via TRAF domains) with DYNC2I2 (via WD domains). Interacts with RBCK1 (By similarity). Interacts with LIMD1 (via LIM domains). Interacts with RSAD2/viperin. Interacts with IFIT3 (via N-terminus) (By similarity). Interacts (via C-terminus) with EIF2AK2/PKR (via the kinase catalytic domain). Interacts with CARD14 (By similarity). Interacts with CD40 and MAP3K8; the interaction is required for ERK activation. Interacts with TICAM1 and this interaction is enhanced in the presence of WDFY1 (By similarity). Interacts with TANK; this interaction increases in response to DNA damage (By similarity). Interacts with USP10; this interaction increases in response to DNA damage (By similarity). Interacts with ZC3H12A; this interaction increases in response to DNA damage and is stimulated by TANK (By similarity). Interacts with WDFY3 (PubMed:27330028). Interacts with TRIM13 (By similarity). Interacts with GPS2 (PubMed:22424771). Interacts (via C-terminus) with SASH1 (By similarity). Interacts with LRRC19 (By similarity). Interacts with IL17RA and TRAF3IP2. Interacts with TOMM70 (By similarity). Interacts with AMBRA1; interaction is required to mediate 'Lys-63'-linked ubiquitination of ULK1 (By similarity). Interacts with CRBN; this interaction inhibits TLR4- mediated signaling by preventing TRAF6-mediated ubiquitination of ECSIT (By similarity). P70196; P27512: Cd40; NbExp=2; IntAct=EBI-448028, EBI-525742; P70196; Q9QZH6: Ecsit; NbExp=5; IntAct=EBI-448028, EBI-527020; P70196; Q9EQY0: Ern1; NbExp=6; IntAct=EBI-448028, EBI-5480799; P70196; P17879: Hspa1b; NbExp=3; IntAct=EBI-448028, EBI-397360; P70196; Q62406-1: Irak1; NbExp=4; IntAct=EBI-448028, EBI-488313; P70196; Q8K4B2: Irak3; NbExp=3; IntAct=EBI-448028, EBI-646179; P70196; Q61084: Map3k3; NbExp=5; IntAct=EBI-448028, EBI-446250; P70196; P22366: Myd88; NbExp=4; IntAct=EBI-448028, EBI-525108; P70196; Q62227: Nr0b2; NbExp=5; IntAct=EBI-448028, EBI-4310440; P70196; P35235: Ptpn11; NbExp=2; IntAct=EBI-448028, EBI-397236; P70196; Q793I8: Tifa; NbExp=2; IntAct=EBI-448028, EBI-524817; P70196; O35305: Tnfrsf11a; NbExp=2; IntAct=EBI-448028, EBI-647362; P70196; Q8C0E5: Traf3ip2; NbExp=3; IntAct=EBI-448028, EBI-530713; P70196; Q8N7N6: Traf3ip2; NbExp=4; IntAct=EBI-448028, EBI-646165; P70196; Q3UDK1: Trafd1; NbExp=2; IntAct=EBI-448028, EBI-1396948; P70196; P62991: Ubc; NbExp=5; IntAct=EBI-448028, EBI-413074; P70196; Q96CG3: TIFA; Xeno; NbExp=4; IntAct=EBI-448028, EBI-740711; Cytoplasm Cytoplasm, cell cortex Nucleus Lipid droplet Note=RSAD2/viperin recruits it to the lipid droplet. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P70196-1; Sequence=Displayed; Name=2; IsoId=P70196-2; Sequence=VSP_007404, VSP_007405; Highly expressed in brain, lung, liver, skeletal muscle, and kidney; lower expression in heart, spleen, and testis. The coiled coil domain mediates homo- and hetero- oligomerization. The MATH/TRAF domain binds to receptor cytoplasmic domains. Sumoylated on Lys-124, Lys-142 and Lys-461 with SUMO1. Polyubiquitinated on Lys-124 by TRAF3IP2; after cell stimulation with IL17A (By similarity). Polyubiquitinated; after cell stimulation with IL1B or TGFB. This ligand-induced cell stimulation leads to dimerization/oligomerization of TRAF6 molecules, followed by auto- ubiquitination which involves UBE2N and UBE2V1 and leads to TRAF6 activation. This 'Lys-63' site-specific poly-ubiquitination appears to be associated with the activation of signaling molecules. Endogenous autoubiquitination occurs only for the cytoplasmic form. Deubiquitinated by USP10 in a TANK-dependent manner, leading to the negative regulation of NF-kappa-B signaling upon DNA damage. LRRC19 induces 'Lys-63' ubiquitination (PubMed:25026888). Ubiquitinated at Lys-327 by the SCF(FBXL2) complex, leading to its degradation by the proteasome (PubMed:23542741). Abrogation of IL-1-induced activation of NF- kappa-B, MAPK8/JNK and MAPK14/p38. Animals appear normal at birth but become smaller after one week. Show runting, failure of tooth eruption and die after three weeks. Exhibit severe osteopetrosis, thymic atrophy, lymph node deficiency, splenomegaly, and have alopecia and lack sweat glands. Belongs to the TNF receptor-associated factor family. A subfamily. negative regulation of transcription from RNA polymerase II promoter protein polyubiquitination ossification in utero embryonic development neural tube closure immune system process positive regulation of T cell cytokine production ubiquitin-protein transferase activity tumor necrosis factor receptor binding protein binding nucleus cytoplasm lipid particle cytosol plasma membrane cell cortex immune response cellular response to DNA damage stimulus signal transduction I-kappaB kinase/NF-kappaB signaling activation of NF-kappaB-inducing kinase activity JNK cascade zinc ion binding animal organ morphogenesis cytoplasmic side of plasma membrane protein ubiquitination transferase activity cytokine-mediated signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class II protein kinase binding osteoclast differentiation mitogen-activated protein kinase kinase kinase binding ubiquitin conjugating enzyme binding ubiquitin protein ligase binding positive regulation of lipopolysaccharide-mediated signaling pathway thioesterase binding activation of protein kinase activity positive regulation of interleukin-2 production macromolecular complex CD40 receptor complex T-helper 1 type immune response positive regulation of T cell proliferation odontogenesis of dentin-containing tooth identical protein binding histone deacetylase binding regulation of apoptotic process myeloid dendritic cell differentiation regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of I-kappaB kinase/NF-kappaB signaling protein kinase B binding positive regulation of JUN kinase activity positive regulation of interleukin-12 biosynthetic process positive regulation of interleukin-6 biosynthetic process bone resorption positive regulation of osteoclast differentiation negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter bone remodeling metal ion binding protein N-terminus binding cell development perinuclear region of cytoplasm positive regulation of smooth muscle cell proliferation T cell receptor signaling pathway regulation of immunoglobulin secretion positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of NF-kappaB transcription factor activity protein autoubiquitination ubiquitin protein ligase activity interleukin-1-mediated signaling pathway protein K63-linked ubiquitination response to interleukin-1 cellular response to lipopolysaccharide cellular response to cytokine stimulus positive regulation of NIK/NF-kappaB signaling positive regulation of leukocyte adhesion to vascular endothelial cell positive regulation of transcription regulatory region DNA binding uc008lhm.1 uc008lhm.2 uc008lhm.3 uc008lhm.4 
ENSMUST00000004959.3 Grap ENSMUST00000004959.3 GRB2-related adaptor protein (from RefSeq NM_027817.3) ENSMUST00000004959.1 ENSMUST00000004959.2 GRAP_MOUSE Grap NM_027817 Q0VBE3 Q3U545 Q9CX99 uc007jhz.1 uc007jhz.2 uc007jhz.3 Couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. Plays a role in the inner ear and in hearing. Associates through its SH2 domain with ligand-activated receptors for stem cell factor (KIT) and erythropoietin (EPOR). Also forms a stable complex with the Bcr-Abl oncoprotein. GRAP is associated with the Ras guanine nucleotide exchange factor SOS1, primarily through its N-terminal SH3 domain. Interacts with phosphorylated LAT upon TCR activation. Interacts with SHB (By similarity). Membrane ; Peripheral membrane protein Synapse Note=Localizes at the presynaptic terminal. Expressed in inner ear, in neruonal fibers innervating cochlear and utricular auditory hair cells (at protein level). Belongs to the GRB2/sem-5/DRK family. sensory perception of sound presynapse uc007jhz.1 uc007jhz.2 uc007jhz.3 
ENSMUST00000004965.8 Chmp2b ENSMUST00000004965.8 charged multivesicular body protein 2B (from RefSeq NM_026879.3) CHM2B_MOUSE ENSMUST00000004965.1 ENSMUST00000004965.2 ENSMUST00000004965.3 ENSMUST00000004965.4 ENSMUST00000004965.5 ENSMUST00000004965.6 ENSMUST00000004965.7 NM_026879 Q80UZ4 Q8BJF9 Q9CT65 uc007zqj.1 uc007zqj.2 uc007zqj.3 Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis. ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4 (By similarity). Probable core component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentially. Interacts with CHMP2A. Interacts with VPS4A. Interacts with VPS4B; the interaction is direct (By similarity). Cytoplasm, cytosol Late endosome membrane ; Peripheral membrane protein In brain, it is expressed in all neuronal populations with a relatively enhanced expression in the hippocampus, frontal and temporal lobes and in both granule and Purkinje cells of the cerebellum. Not expressed in astrocytes or oligodendrocytes. Belongs to the SNF7 family. ESCRT III complex cytoplasm lysosome endosome late endosome multivesicular body cytosol plasma membrane nucleus organization endosome organization vacuolar transport mitotic metaphase plate congression regulation of centrosome duplication postsynaptic density protein transport membrane protein domain specific binding late endosome membrane endosome transport via multivesicular body sorting pathway viral budding via host ESCRT complex late endosome to vacuole transport cognition neuron cellular homeostasis glutamatergic synapse regulation of mitotic spindle assembly positive regulation of viral release from host cell uc007zqj.1 uc007zqj.2 uc007zqj.3 
ENSMUST00000004968.11 Plod3 ENSMUST00000004968.11 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (from RefSeq NM_011962.3) ENSMUST00000004968.1 ENSMUST00000004968.10 ENSMUST00000004968.2 ENSMUST00000004968.3 ENSMUST00000004968.4 ENSMUST00000004968.5 ENSMUST00000004968.6 ENSMUST00000004968.7 ENSMUST00000004968.8 ENSMUST00000004968.9 NM_011962 PLOD3_MOUSE Q542E0 Q9CYY9 Q9R0E1 uc009abk.1 uc009abk.2 uc009abk.3 uc009abk.4 Multifunctional enzyme that catalyzes a series of post- translational modifications on Lys residues in procollagen (PubMed:16447251). Plays a redundant role in catalyzing the formation of hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens (PubMed:16447251). Plays a redundant role in catalyzing the transfer of galactose onto hydroxylysine groups, giving rise to galactosyl 5- hydroxylysine (By similarity). Has an essential role by catalyzing the subsequent transfer of glucose moieties, giving rise to 1,2- glucosylgalactosyl-5-hydroxylysine residues (PubMed:16447251, PubMed:16467571, PubMed:21220425). Catalyzes hydroxylation and glycosylation of Lys residues in the MBL1 collagen-like domain, giving rise to hydroxylysine and 1,2-glucosylgalactosyl-5-hydroxylysine residues (PubMed:25419660). Catalyzes hydroxylation and glycosylation of Lys residues in the ADIPOQ collagen-like domain, giving rise to hydroxylysine and 1,2-glucosylgalactosyl-5-hydroxylysine residues (PubMed:23209641). Essential for normal biosynthesis and secretion of type IV collagens (PubMed:15377789, PubMed:16467571, PubMed:17873278). Essential for normal formation of basement membranes (PubMed:15377789, PubMed:16467571). Reaction=2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L- lysyl-[collagen] + CO2 + succinate; Xref=Rhea:RHEA:16569, Rhea:RHEA- COMP:12751, Rhea:RHEA-COMP:12752, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:29969, ChEBI:CHEBI:30031, ChEBI:CHEBI:133442; EC=1.14.11.4; Evidence=; Reaction=(5R)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-galactose = (5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP; Xref=Rhea:RHEA:12637, Rhea:RHEA-COMP:12752, Rhea:RHEA- COMP:12753, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:133442, ChEBI:CHEBI:133443; EC=2.4.1.50; Evidence=; Reaction=(5R)-5-O-(beta-D-galactosyl)-5-hydroxy-L-lysyl-[collagen] + UDP-alpha-D-glucose = (5R)-5-O-[alpha-D-glucosyl-(1->2)-beta-D- galactosyl]-5-hydroxy-L-lysyl-[collagen] + H(+) + UDP; Xref=Rhea:RHEA:12576, Rhea:RHEA-COMP:12753, Rhea:RHEA-COMP:12754, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:58885, ChEBI:CHEBI:133443, ChEBI:CHEBI:133452; EC=2.4.1.66; Evidence= Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; Name=L-ascorbate; Xref=ChEBI:CHEBI:38290; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Homodimer. Rough endoplasmic reticulum Endoplasmic reticulum lumen Endoplasmic reticulum membrane ; Peripheral membrane protein ; Lumenal side Secreted Secreted, extracellular space Note=The majority of the secreted protein is associated with the extracellular matrix. Detected in blood serum, heart, brain, liver, kidney, lung, spleen, muscle and testis (at protein level) (PubMed:16447251). Highly expressed in the heart, lung, liver and testis (PubMed:10429951). Detected in the walls of blood vessels in placenta and embryos. Detected in chondrocytes in embryos at 14.5 dpc and in adults, in adult kidney mesangium and vascular poles of kidney glomeruli (PubMed:15377789). Detected around nerves and in the adrenal gland (PubMed:15377789). Detected in embryos (at protein level) (PubMed:16467571). Ubiquitous and strongly expressed in embryos at 8.5 to 9.5 dpc. Expression becomes more restricted during embryonic development. Highly expressed in head, eye lens and developing bones at 12.5 dpc. Expression in the eye is decreased by 14.5 dpc. Detected in capillaries and in the photoreceptor layer in the adult eye (PubMed:15377789). The N-terminal domain mediates glycosyltransferase activity. The C-terminal domain that mediates lysyl hydroxylase activity is also important for homodimerization. N-glycosylated. Full embryonic lethality. Mutant embryos are much smaller than wild-type by 9.5 dpc, and the majority are dead by 10.5 dpc. At 9.5 dpc, mutant embryos display fragmentation of basement membranes (PubMed:15377789, PubMed:16467571). The majority of the mutant embryos display dilated blood vessels, particularly in the region of the sinus venosus (PubMed:16467571). Mutant embryos display no decrease in global lysyl hydroxylase activity, due to the expression of other lysyl hydroxylases (PubMed:15377789). Mutant embryos display a nearly complete loss of procollagen glucosyltransferase activity (PubMed:15377789, PubMed:16467571). in utero embryonic development endothelial cell morphogenesis catalytic activity iron ion binding extracellular region extracellular space endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane rough endoplasmic reticulum Golgi apparatus trans-Golgi network protein O-linked glycosylation protein localization metabolic process procollagen-lysine 5-dioxygenase activity membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen transferase activity transferase activity, transferring glycosyl groups peptidyl-lysine hydroxylation neural tube development collagen fibril organization L-ascorbic acid binding cellular response to hormone stimulus collagen metabolic process procollagen glucosyltransferase activity vasodilation metal ion binding hydroxylysine biosynthetic process epidermis morphogenesis procollagen galactosyltransferase activity dioxygenase activity oxidation-reduction process lung morphogenesis basement membrane assembly uc009abk.1 uc009abk.2 uc009abk.3 uc009abk.4 
ENSMUST00000004985.11 Brpf3 ENSMUST00000004985.11 bromodomain and PHD finger containing, 3 (from RefSeq NM_001081315.1) A0A3B2WAQ0 B2KF05 BRPF3_MOUSE Brpf3 ENSMUST00000004985.1 ENSMUST00000004985.10 ENSMUST00000004985.2 ENSMUST00000004985.3 ENSMUST00000004985.4 ENSMUST00000004985.5 ENSMUST00000004985.6 ENSMUST00000004985.7 ENSMUST00000004985.8 ENSMUST00000004985.9 NM_001081315 Q3TRM7 uc008brp.1 uc008brp.2 uc008brp.3 Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, which have a histone H3 acetyltransferase activity. Plays a role in DNA replication initiation by directing KAT7/HBO1 specificity towards histone H3 'Lys- 14' acetylation (H3K14ac), thereby facilitating the activation of replication origins. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. Component of some HBO1 complexes composed of KAT7/HBO1, MEAF6, ING4 or ING5, and BRPF3. Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3. Interacts with KAT7/HBO1; the interaction is direct. Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=B2KF05-1; Sequence=Displayed; Name=2; IsoId=B2KF05-2; Sequence=VSP_060569, VSP_060570; Highly expressed in the adult testis and brain. Widely expressed in embryos at 12.5 dpc. No visible phenotype. Sequence=BAE37001.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; molecular_function histone H3 acetylation metal ion binding MOZ/MORF histone acetyltransferase complex uc008brp.1 uc008brp.2 uc008brp.3 
ENSMUST00000004994.16 Pax3 ENSMUST00000004994.16 paired box 3, transcript variant 2 (from RefSeq NM_001159520.1) ENSMUST00000004994.1 ENSMUST00000004994.10 ENSMUST00000004994.11 ENSMUST00000004994.12 ENSMUST00000004994.13 ENSMUST00000004994.14 ENSMUST00000004994.15 ENSMUST00000004994.2 ENSMUST00000004994.3 ENSMUST00000004994.4 ENSMUST00000004994.5 ENSMUST00000004994.6 ENSMUST00000004994.7 ENSMUST00000004994.8 ENSMUST00000004994.9 NM_001159520 Pax3 Q8BRF1 Q8BRF1_MOUSE uc007bqc.1 uc007bqc.2 uc007bqc.3 uc007bqc.4 Nucleus Belongs to the paired homeobox family. DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development sequence-specific DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter HMG box domain binding uc007bqc.1 uc007bqc.2 uc007bqc.3 uc007bqc.4 
ENSMUST00000005003.12 Lbr ENSMUST00000005003.12 lamin B receptor, transcript variant 1 (from RefSeq NM_133815.3) ENSMUST00000005003.1 ENSMUST00000005003.10 ENSMUST00000005003.11 ENSMUST00000005003.2 ENSMUST00000005003.3 ENSMUST00000005003.4 ENSMUST00000005003.5 ENSMUST00000005003.6 ENSMUST00000005003.7 ENSMUST00000005003.8 ENSMUST00000005003.9 LBR_MOUSE NM_133815 Q3TSW2 Q3U9G9 Q811V8 Q811V9 Q8BST3 Q8K2Y8 Q8VDM0 Q91YS5 Q91Z27 uc007dxo.1 uc007dxo.2 uc007dxo.3 uc007dxo.4 Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:18785926). Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (PubMed:22140257). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid raft formation during neutrophil differentiation (PubMed:22140257). Anchors the lamina and the heterochromatin to the inner nuclear membrane (By similarity). Reaction=5alpha-cholest-8,14-dien-3beta-ol + H(+) + NADPH = 5alpha- cholest-8-en-3beta-ol + NADP(+); Xref=Rhea:RHEA:46456, ChEBI:CHEBI:15378, ChEBI:CHEBI:16608, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:86131; Evidence=; Reaction=4,4-dimethyl-5alpha-cholesta-8,24-dien-3beta-ol + NADP(+) = 4,4-dimethyl-5alpha-cholesta-8,14,24-trien-3beta-ol + H(+) + NADPH; Xref=Rhea:RHEA:18561, ChEBI:CHEBI:15378, ChEBI:CHEBI:17813, ChEBI:CHEBI:18364, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.3.1.70; Evidence=; Reaction=4,4-dimethyl-8,14-cholestadien-3beta-ol + H(+) + NADPH = 4,4- dimethyl-5alpha-cholest-8-en-3beta-ol + NADP(+); Xref=Rhea:RHEA:46812, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:78904, ChEBI:CHEBI:87044; Evidence=; Steroid biosynthesis; cholesterol biosynthesis. Interacts with CBX5 (By similarity). Interacts with DNA (By similarity). Interaction with DNA is sequence independent with higher affinity for supercoiled and relaxed circular DNA than linear DNA (By similarity). Interacts with lamin B (By similarity). Interacts with CLNK (PubMed:26009488). Interacts with TMEM147; promoting LBR localization to the nucleus inner membrane (By similarity). Nucleus inner membrane ; Multi-pass membrane protein Nucleus Cytoplasm Endoplasmic reticulum membrane Note=Nucleus; nuclear rim. Highly expressed in the testis and lung. Also expressed in the heart, ovary, kidney and liver. Strongly expressed in liver, skin, brain as well as in specific regions of the developing cartilage and bone in embryos. The Tudor domain may not recognize methylation marks, but rather bind unassembled free histone H3. Phosphorylated by CDK1 in mitosis when the inner nuclear membrane breaks down into vesicles that dissociate from the lamina and the chromatin (By similarity). It is phosphorylated by different protein kinases in interphase when the membrane is associated with these structures (By similarity). Phosphorylation of LBR and HP1 proteins may be responsible for some of the alterations in chromatin organization and nuclear structure which occur at various times during the cell cycle (By similarity). Phosphorylated by SRPK1 (By similarity). In late anaphase LBR is dephosphorylated, probably by PP1 and/or PP2A, allowing reassociation with chromatin (By similarity). Belongs to the ERG4/ERG24 family. DNA binding protein binding nucleus nuclear envelope nuclear inner membrane nuclear pore nuclear lamina cytoplasm endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process steroid biosynthetic process cholesterol biosynthetic process nuclear localization sequence binding steroid metabolic process cholesterol metabolic process membrane integral component of membrane sterol biosynthetic process oxidoreductase activity oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor neutrophil differentiation nuclear membrane delta14-sterol reductase activity chaperone binding oxidation-reduction process chromo shadow domain binding NADPH binding uc007dxo.1 uc007dxo.2 uc007dxo.3 uc007dxo.4 
ENSMUST00000005014.9 Hapln2 ENSMUST00000005014.9 hyaluronan and proteoglycan link protein 2 (from RefSeq NM_022031.2) Bral1 ENSMUST00000005014.1 ENSMUST00000005014.2 ENSMUST00000005014.3 ENSMUST00000005014.4 ENSMUST00000005014.5 ENSMUST00000005014.6 ENSMUST00000005014.7 ENSMUST00000005014.8 HPLN2_MOUSE NM_022031 Q9ESM3 uc008ptq.1 uc008ptq.2 uc008ptq.3 uc008ptq.4 Mediates a firm binding of versican V2 to hyaluronic acid. May play a pivotal role in the formation of the hyaluronan-associated matrix in the central nervous system (CNS) which facilitates neuronal conduction and general structural stabilization. Binds to hyaluronic acid. Secreted, extracellular space, extracellular matrix Brain. Predominantly expressed by neurons. Colocalizes with versican V2 in developing and adult cerebellar white matter and at the nodes of Ranvier. Expression starts at postnatal day 20 and increases thereafter. Belongs to the HAPLN family. skeletal system development hyaluronic acid binding extracellular region cell adhesion central nervous system development establishment of blood-nerve barrier extracellular matrix extracellular matrix assembly uc008ptq.1 uc008ptq.2 uc008ptq.3 uc008ptq.4 
ENSMUST00000005015.10 Prcc ENSMUST00000005015.10 papillary renal cell carcinoma (translocation-associated) (from RefSeq NM_033573.2) ENSMUST00000005015.1 ENSMUST00000005015.2 ENSMUST00000005015.3 ENSMUST00000005015.4 ENSMUST00000005015.5 ENSMUST00000005015.6 ENSMUST00000005015.7 ENSMUST00000005015.8 ENSMUST00000005015.9 NM_033573 Prcc Q9EQC8 Q9EQC8_MOUSE uc008ptb.1 uc008ptb.2 uc008ptb.3 uc008ptb.4 molecular_function nucleus mitotic cell cycle checkpoint nuclear speck uc008ptb.1 uc008ptb.2 uc008ptb.3 uc008ptb.4 
ENSMUST00000005016.16 Mettl25b ENSMUST00000005016.16 methyltransferase like 25B (from RefSeq NM_153562.4) ENSMUST00000005016.1 ENSMUST00000005016.10 ENSMUST00000005016.11 ENSMUST00000005016.12 ENSMUST00000005016.13 ENSMUST00000005016.14 ENSMUST00000005016.15 ENSMUST00000005016.2 ENSMUST00000005016.3 ENSMUST00000005016.4 ENSMUST00000005016.5 ENSMUST00000005016.6 ENSMUST00000005016.7 ENSMUST00000005016.8 ENSMUST00000005016.9 G3X8Q8 MT25B_MOUSE Mettl25b NM_153562 Q8BZG5 Q8CII4 Rrnad1 uc008pth.1 uc008pth.2 uc008pth.3 uc008pth.4 Membrane ; Single-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BZG5-1; Sequence=Displayed; Name=2; IsoId=Q8BZG5-2; Sequence=VSP_025878, VSP_025879, VSP_025880; Belongs to the METTL25 family. molecular_function cellular_component biological_process membrane integral component of membrane uc008pth.1 uc008pth.2 uc008pth.3 uc008pth.4 
ENSMUST00000005017.15 Hdgf ENSMUST00000005017.15 heparin binding growth factor, transcript variant 1 (from RefSeq NM_008231.5) ENSMUST00000005017.1 ENSMUST00000005017.10 ENSMUST00000005017.11 ENSMUST00000005017.12 ENSMUST00000005017.13 ENSMUST00000005017.14 ENSMUST00000005017.2 ENSMUST00000005017.3 ENSMUST00000005017.4 ENSMUST00000005017.5 ENSMUST00000005017.6 ENSMUST00000005017.7 ENSMUST00000005017.8 ENSMUST00000005017.9 HDGF_MOUSE NM_008231 P51859 Q8BPG7 Q9CYA4 Q9JK87 Tdrm1 uc008ptc.1 uc008ptc.2 uc008ptc.3 Acts as a transcriptional repressor (By similarity). Has mitogenic activity for fibroblasts (By similarity). Heparin-binding protein (By similarity). Monomer, and domain-swapped homodimer (By similarity). Interacts with nuclear proteins NCL and YBX1/YB1 (By similarity). P51859; Q3UMU9: Hdgfl2; NbExp=4; IntAct=EBI-2943087, EBI-7627961; P51859; Q3UMU9-1; NbExp=4; IntAct=EBI-2943087, EBI-7627862; P51859; Q3UMU9-3; NbExp=4; IntAct=EBI-2943087, EBI-7627932; Nucleus Cytoplasm Secreted, extracellular exosome Note=Secreted by exosomes and is located inside the exosome (By similarity). May also be secreted as free protein via an as yet unknown pathway (By similarity). Expressed predominantly in testis and skeletal muscle, to intermediate extents in heart, brain, lung, liver, and kidney, and to a minimal extent in spleen. The PWWP domain harbors the heparin-binding sites and is responsible for DNA-binding, while the C-terminal region is essentially unstructured. The N-terminal region does not contain a typical signal sequence but is required for secretion (PubMed:21087088). It also determines exosomal location (By similarity). Sumoylated with SUMO1. Sumoylation prevents binding to chromatin. Phosphorylation at Ser-165 is likely to be required for secretion. Belongs to the HDGF family. negative regulation of transcription from RNA polymerase II promoter nucleotide binding RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription corepressor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription corepressor activity actin binding protein binding extracellular region extracellular space nucleus nucleoplasm cytoplasm signal transduction growth factor activity heparin binding cellular process tubulin binding transcriptional repressor complex protein localization to nucleus positive regulation of transcription from RNA polymerase II promoter positive regulation of cell division extracellular exosome cellular response to interleukin-7 uc008ptc.1 uc008ptc.2 uc008ptc.3 
ENSMUST00000005019.6 Crabp2 ENSMUST00000005019.6 cellular retinoic acid binding protein II (from RefSeq NM_007759.2) ENSMUST00000005019.1 ENSMUST00000005019.2 ENSMUST00000005019.3 ENSMUST00000005019.4 ENSMUST00000005019.5 NM_007759 P22935 RABP2_MOUSE uc008ptk.1 uc008ptk.2 uc008ptk.3 Transports retinoic acid to the nucleus. Regulates the access of retinoic acid to the nuclear retinoic acid receptors. Interacts with importin alpha (By similarity). Interacts with RXR and RARA. Cytoplasm Endoplasmic reticulum Nucleus Note=Upon ligand binding, a conformation change exposes a nuclear localization motif and the protein is transported into the nucleus. Embryo and skin of adult mouse. By retinoic acid. Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior. Sumoylated in response to retinoic acid binding, sumoylation is critical for dissociation from ER and subsequent nuclear translocation. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. retinoic acid binding retinoic acid biosynthetic process nucleus nucleoplasm cytoplasm endoplasmic reticulum cytosol lipid binding retinal binding retinol binding cyclin binding embryonic forelimb morphogenesis retinoic acid metabolic process regulation of retinoic acid receptor signaling pathway positive regulation of collateral sprouting uc008ptk.1 uc008ptk.2 uc008ptk.3 
ENSMUST00000005053.14 Tmem242 ENSMUST00000005053.14 transmembrane protein 242 (from RefSeq NM_027457.4) ENSMUST00000005053.1 ENSMUST00000005053.10 ENSMUST00000005053.11 ENSMUST00000005053.12 ENSMUST00000005053.13 ENSMUST00000005053.2 ENSMUST00000005053.3 ENSMUST00000005053.4 ENSMUST00000005053.5 ENSMUST00000005053.6 ENSMUST00000005053.7 ENSMUST00000005053.8 ENSMUST00000005053.9 NM_027457 Q8C2T2 Q8CEX9 Q8VCR3 Q9CYJ2 Q9D1H4 TM242_MOUSE Tmem242 uc008afa.1 uc008afa.2 uc008afa.3 Scaffold protein that participates in the c-ring assembly of mitochondrial ATP synthase (F(1)F(0) ATP synthase or complex V) by facilitating the membrane insertion and oligomer formation of the subunit c/ATP5MC3. Participates in the incorporation of the c-ring into vestigial complexes. Additionally influences the incorporation of subunits MT-ATP6, MT-ATP8, ATP5MJ, and ATP5MK in the ATP synthase. Interacts with the core subunits NDUFAF1, ECSIT and ACAD9 of the MCIA complex. Interacts with ATP5MC3, NDUFC2, TMEM70, MT-ND2 AND MT-ND3. Mitochondrion inner membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8VCR3-1; Sequence=Displayed; Name=2; IsoId=Q8VCR3-2; Sequence=VSP_027110; Name=3; IsoId=Q8VCR3-3; Sequence=VSP_027111, VSP_027112; Belongs to the TMEM242 family. Sequence=BAC25272.1; Type=Frameshift; Evidence=; molecular_function cellular_component biological_process membrane integral component of membrane uc008afa.1 uc008afa.2 uc008afa.3 
ENSMUST00000005057.7 Thop1 ENSMUST00000005057.7 thimet oligopeptidase 1 (from RefSeq NM_022653.4) A0A0R4IZY0 A0A0R4IZY0_MOUSE ENSMUST00000005057.1 ENSMUST00000005057.2 ENSMUST00000005057.3 ENSMUST00000005057.4 ENSMUST00000005057.5 ENSMUST00000005057.6 NM_022653 Thop1 uc007gfv.1 uc007gfv.2 uc007gfv.3 uc007gfv.4 Reaction=Preferential cleavage of bonds with hydrophobic residues at P1, P2 and P3' and a small residue at P1' in substrates of 5 to 15 residues.; EC=3.4.24.15; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion. ; Monomer. Cytoplasm Belongs to the peptidase M3 family. metalloendopeptidase activity proteolysis peptidase activity metallopeptidase activity hydrolase activity peptide binding metal ion binding uc007gfv.1 uc007gfv.2 uc007gfv.3 uc007gfv.4 
ENSMUST00000005064.14 Pias4 ENSMUST00000005064.14 protein inhibitor of activated STAT 4 (from RefSeq NM_021501.4) ENSMUST00000005064.1 ENSMUST00000005064.10 ENSMUST00000005064.11 ENSMUST00000005064.12 ENSMUST00000005064.13 ENSMUST00000005064.2 ENSMUST00000005064.3 ENSMUST00000005064.4 ENSMUST00000005064.5 ENSMUST00000005064.6 ENSMUST00000005064.7 ENSMUST00000005064.8 ENSMUST00000005064.9 NM_021501 PIAS4_MOUSE Piasg Q8R165 Q9JM05 uc007ggc.1 uc007ggc.2 uc007ggc.3 uc007ggc.4 uc007ggc.5 uc007ggc.6 Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Mediates sumoylation of CEBPA, PARK7, HERC2, MYB, TCF4 and RNF168. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway, the p53/TP53 pathway, the Wnt pathway and the steroid hormone signaling pathway. Involved in gene silencing. In Wnt signaling, represses LEF1 and enhances TCF4 transcriptional activities through promoting their sumoylations. Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation (By similarity). Binds to AT-rich DNA sequences, known as matrix or scaffold attachment regions (MARs/SARs) (PubMed:11731474). Catalyzes conjugation of SUMO2 to KAT5 in response to DNA damage, facilitating repair of DNA double-strand breaks (DSBs) via homologous recombination (HR) (By similarity). Mediates sumoylation of PARP1 in response to PARP1 trapping to chromatin (By similarity). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Protein modification; protein sumoylation. Interacts with AR, AXIN1, GATA2, TP53 and STAT1 (IFNG-induced) (By similarity). Interacts with LEF1 (PubMed:11731474). Interacts with TICAM1 (By similarity). Interacts with KLF8; the interaction results in SUMO ligation and repression of KLF8 transcriptional activity and of its cell cycle progression into G(1) phase (By similarity). Interacts with MTA1 (By similarity). Interacts with PRDM1/Blimp-1 (By similarity). Interacts with TRIM32 upon treatment with UVB and TNF- alpha (PubMed:16816390). (Microbial infection) Interacts ewith Moloney murine leukemia virus Capsid protein p30. Nucleus, PML body te=Colocalizes with SUMO1 and TCF7L2/TCF4 and LEF1 in a subset of PML (promyelocytic leukemia) nuclear bodies. Accumulates in the cytoplasm upon treatment with UVB and TNF-alpha. Widely expressed, with highest levels in testis. Also expressed in vascular endothelial cells, in primary keratinocytes and in the CNS, including cortex, olfactory bulb, spinal cord, thalamus and trigeminal ganglion. Low expression, if any, in liver and lung. At 8.5 dpc, expressed primarily in the anterior part of the neural tube. At 10.5 dpc, expressed in the neuroepithelium of the forebrain and hindbrain. At 11.5 dpc, detected in the neural tube, eye, limb buds and brachial arches. At 12.5 dpc, expressed in the hindlimbs and forelimbs, as well as in the forebrain. At 12.5 and 13.5 dpc, detected in single cells in the marginal zone of the developing cortex, as well as in other developing tissues and organs. At 13.5 dpc, expressed in the developing limb buds, in single cells in the mesenchyme surrounding future digit structures. At 15.5 dpc, detected in the inner root sheath of vibrissa hair follicle. Expression in the inner root sheath of the hair follicle continues later in life as it can also be detected in the back skin of newborn at postnatal day 3. At 16.5 dpc, expressed in the epithelium of olfactory and in the retina. The LXXLL motif is a coregulator signature that is essential for transcriptional corepression. Sumoylated. Lys-35 is the main site of sumoylation. Sumoylation is required for TCF4 sumoylation and transcriptional activation. Represses LEF1 transcriptional activity. SUMO1 is the preferred conjugate. Ubiquitinated by TRIM32 upon treatment with UVB and TNF-alpha. Belongs to the PIAS family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II transcription factor binding DNA binding transcription cofactor activity transcription corepressor activity protein binding nucleus nucleoplasm cytoplasm regulation of transcription from RNA polymerase II promoter JAK-STAT cascade multicellular organism development protein C-terminus binding zinc ion binding negative regulation of tumor necrosis factor-mediated signaling pathway viral process Wnt signaling pathway nuclear matrix PML body transferase activity protein sumoylation SUMO transferase activity ubiquitin protein ligase binding negative regulation of NF-kappaB transcription factor activity positive regulation of protein sumoylation negative regulation of transcription, DNA-templated metal ion binding SUMO ligase activity positive regulation of keratinocyte apoptotic process positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage transferase complex uc007ggc.1 uc007ggc.2 uc007ggc.3 uc007ggc.4 uc007ggc.5 uc007ggc.6 
ENSMUST00000005066.9 Map2k1 ENSMUST00000005066.9 mitogen-activated protein kinase kinase 1, transcript variant 1 (from RefSeq NM_008927.5) ENSMUST00000005066.1 ENSMUST00000005066.2 ENSMUST00000005066.3 ENSMUST00000005066.4 ENSMUST00000005066.5 ENSMUST00000005066.6 ENSMUST00000005066.7 ENSMUST00000005066.8 Map2k1 NM_008927 Q3TMJ8 Q3TMJ8_MOUSE uc009qbp.1 uc009qbp.2 uc009qbp.3 Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.12.2; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.12.2; Evidence=; Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.12.2; Evidence=; Cytoplasm, cytoskeleton, microtubule organizing center, spindle pole body Nucleus Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. nucleotide binding activation of MAPK activity protein kinase activity protein serine/threonine kinase activity MAP kinase kinase activity ATP binding endoplasmic reticulum cytosol plasma membrane protein phosphorylation cell cycle arrest protein C-terminus binding negative regulation of cell proliferation positive regulation of gene expression negative regulation of gene expression kinase activity phosphorylation peptidyl-threonine phosphorylation regulation of protein heterodimerization activity protein serine/threonine kinase activator activity positive regulation of transcription, DNA-templated protein N-terminus binding ERK1 and ERK2 cascade positive regulation of ERK1 and ERK2 cascade positive regulation of protein serine/threonine kinase activity cellular senescence scaffold protein binding positive regulation of production of miRNAs involved in gene silencing by miRNA uc009qbp.1 uc009qbp.2 uc009qbp.3 
ENSMUST00000005067.6 Sgta ENSMUST00000005067.6 small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha, transcript variant 1 (from RefSeq NM_024499.2) ENSMUST00000005067.1 ENSMUST00000005067.2 ENSMUST00000005067.3 ENSMUST00000005067.4 ENSMUST00000005067.5 NM_024499 Q8BGA6 Q8BJU0 Q99L52 SGTA_MOUSE Sgt uc007gft.1 uc007gft.2 uc007gft.3 Co-chaperone that binds misfolded and hydrophobic patches- containing client proteins in the cytosol. Mediates their targeting to the endoplasmic reticulum but also regulates their sorting to the proteasome when targeting fails. Functions in tail-anchored/type II transmembrane proteins membrane insertion constituting with ASNA1 and the BAG6 complex a targeting module. Functions upstream of the BAG6 complex and ASNA1, binding more rapidly the transmembrane domain of newly synthesized proteins. It is also involved in the regulation of the endoplasmic reticulum-associated misfolded protein catabolic process via its interaction with BAG6: collaborates with the BAG6 complex to maintain hydrophobic substrates in non-ubiquitinated states. Competes with RNF126 for interaction with BAG6, preventing the ubiquitination of client proteins associated with the BAG6 complex. Binds directly to HSC70 and HSP70 and regulates their ATPase activity. Homodimer (By similarity). Homooligomer (By similarity). Interacts with DNAJC5 and DNAJC5B (PubMed:17034881). Interacts (via TPR repeats) with HSP90AA1. Interacts (via Gln-rich region) with SLC2A1 (By similarity). Interacts with HSP90AB1 (By similarity). Interacts (via TPR repeats) with HSPA8/Hsc70; the interaction is direct (By similarity). Interacts with BAG6 (via ubiquitin-like domain); interaction prevents interaction between BAG6 and RNF126 (By similarity). Forms a multiprotein complex, at least composed of DNAJB12, DNAJB14, HSPA8/Hsc70 and SGTA; interaction with DNAJB14 and HSPA8/Hsc70 is direct (By similarity). Cytoplasm Nucleus Note=Co-localizes with HSP90AB1 in the cytoplasm. Increased nuclear accumulation seen during cell apoptosis. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BJU0-1; Sequence=Displayed; Name=2; IsoId=Q8BJU0-2; Sequence=VSP_009300; Belongs to the SGT family. nucleus cytoplasm cytosol posttranslational protein targeting to membrane membrane ER-associated ubiquitin-dependent protein catabolic process identical protein binding protein homodimerization activity protein self-association protein heterodimerization activity chaperone-mediated protein folding tail-anchored membrane protein insertion into ER membrane TRC complex presynapse extrinsic component of synaptic vesicle membrane negative regulation of ER-associated ubiquitin-dependent protein catabolic process positive regulation of ER-associated ubiquitin-dependent protein catabolic process positive regulation of chaperone-mediated protein folding BAT3 complex binding negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process uc007gft.1 uc007gft.2 uc007gft.3 
ENSMUST00000005069.8 Nmrk2 ENSMUST00000005069.8 nicotinamide riboside kinase 2 (from RefSeq NM_027120.2) ENSMUST00000005069.1 ENSMUST00000005069.2 ENSMUST00000005069.3 ENSMUST00000005069.4 ENSMUST00000005069.5 ENSMUST00000005069.6 ENSMUST00000005069.7 Itgb1bp3 NM_027120 NRK2_MOUSE Nrk2 Q0VEG2 Q3UV96 Q9D7C9 uc007ggn.1 uc007ggn.2 uc007ggn.3 Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). Reduces laminin matrix deposition and cell adhesion to laminin, but not to fibronectin. Involved in the regulation of PXN at the protein level and of PXN tyrosine phosphorylation. May play a role in the regulation of terminal myogenesis (By similarity). Reaction=ATP + beta-nicotinamide D-riboside = ADP + beta-nicotinamide D-ribonucleotide + H(+); Xref=Rhea:RHEA:14017, ChEBI:CHEBI:14649, ChEBI:CHEBI:15378, ChEBI:CHEBI:15927, ChEBI:CHEBI:30616, ChEBI:CHEBI:456216; EC=2.7.1.22; Evidence=; Reaction=ATP + beta-D-ribosylnicotinate = ADP + H(+) + nicotinate beta- D-ribonucleotide; Xref=Rhea:RHEA:25568, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57502, ChEBI:CHEBI:58527, ChEBI:CHEBI:456216; EC=2.7.1.173; Evidence=; Cofactor biosynthesis; NAD(+) biosynthesis. Monomer (By similarity). Interacts with ITGB1 alone or when associated with alpha-7, but not with alpha-5. Expressed in skeletal muscle (at protein level). Down-regulated during myoblast differentiation. Belongs to the uridine kinase family. NRK subfamily. nucleotide binding protein binding ATP binding nucleoplasm plasma membrane NAD biosynthetic process kinase activity phosphorylation transferase activity pyridine nucleotide biosynthetic process intracellular membrane-bounded organelle negative regulation of myoblast differentiation metal ion binding ribosylnicotinamide kinase activity ribosylnicotinate kinase activity uc007ggn.1 uc007ggn.2 uc007ggn.3 
ENSMUST00000005073.13 Zp3 ENSMUST00000005073.13 zona pellucida glycoprotein 3 (from RefSeq NM_011776.1) ENSMUST00000005073.1 ENSMUST00000005073.10 ENSMUST00000005073.11 ENSMUST00000005073.12 ENSMUST00000005073.2 ENSMUST00000005073.3 ENSMUST00000005073.4 ENSMUST00000005073.5 ENSMUST00000005073.6 ENSMUST00000005073.7 ENSMUST00000005073.8 ENSMUST00000005073.9 NM_011776 P10761 Q4FZI2 ZP3_MOUSE Zp-3 Zpc uc008zzl.1 uc008zzl.2 uc008zzl.3 Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP3 is essential for sperm binding and zona matrix formation. Polymers of ZP2 and ZP3 organized into long filaments cross- linked by ZP1 homodimers. Interacts with ZP1 and ZP2. [Processed zona pellucida sperm-binding protein 3]: Zona pellucida Cell membrane ; Single-pass type I membrane protein Expressed in oocytes. Expressed during the 2-week growth phase of oogenesis, prior to ovulation. The ZP domain is involved in the polymerization of the ZP proteins to form the zona pellucida. Proteolytically cleaved before the transmembrane segment to yield the secreted ectodomain incorporated in the zona pellucida. O-glycosylated; removal of O-linked glycans may play an important role in the post-fertilization block to polyspermy. Cys-320, Cys-322, Cys-323 and Cys-328 are involved in two additional disulfide bonds. Belongs to the ZP domain family. ZPC subfamily. Name=Protein Spotlight; Note=Molecular chastity - Issue 93 of April 2008; URL="https://web.expasy.org/spotlight/back_issues/093"; positive regulation of type IV hypersensitivity blastocyst formation humoral immune response mediated by circulating immunoglobulin positive regulation of leukocyte migration positive regulation of humoral immune response protein binding extracellular region extracellular space plasma membrane binding of sperm to zona pellucida regulation of receptor activity positive regulation of phosphatidylinositol biosynthetic process membrane integral component of membrane carbohydrate binding acrosin binding positive regulation of interferon-gamma production positive regulation of interleukin-4 production egg coat formation structural constituent of egg coat egg coat positive regulation of T cell proliferation identical protein binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated phosphatidylinositol-mediated signaling receptor agonist activity oocyte development positive regulation of inflammatory response positive regulation of acrosome reaction negative regulation of binding of sperm to zona pellucida positive regulation of acrosomal vesicle exocytosis positive regulation of ovarian follicle development positive regulation of antral ovarian follicle growth uc008zzl.1 uc008zzl.2 uc008zzl.3 
ENSMUST00000005077.7 Hspb1 ENSMUST00000005077.7 heat shock protein 1 (from RefSeq NM_013560.2) ENSMUST00000005077.1 ENSMUST00000005077.2 ENSMUST00000005077.3 ENSMUST00000005077.4 ENSMUST00000005077.5 ENSMUST00000005077.6 Hspb1 NM_013560 Q545F4 Q545F4_MOUSE uc012eeq.1 uc012eeq.2 Cytoplasm, cytoskeleton, spindle Nucleus Belongs to the small heat shock protein (HSP20) family. regulation of protein phosphorylation nucleus cytoplasm response to virus protein kinase binding intracellular signal transduction cellular response to vascular endothelial growth factor stimulus positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway identical protein binding protein homodimerization activity positive regulation of blood vessel endothelial cell migration protein binding involved in protein folding positive regulation of angiogenesis chaperone-mediated protein folding anterograde axonal protein transport axon cytoplasm positive regulation of endothelial cell chemotaxis uc012eeq.1 uc012eeq.2 
ENSMUST00000005103.12 Nfe2l3 ENSMUST00000005103.12 nuclear factor, erythroid derived 2, like 3 (from RefSeq NM_010903.2) ENSMUST00000005103.1 ENSMUST00000005103.10 ENSMUST00000005103.11 ENSMUST00000005103.2 ENSMUST00000005103.3 ENSMUST00000005103.4 ENSMUST00000005103.5 ENSMUST00000005103.6 ENSMUST00000005103.7 ENSMUST00000005103.8 ENSMUST00000005103.9 NF2L3_MOUSE NM_010903 Nrf3 Q9WTM4 uc009bxl.1 uc009bxl.2 Activates erythroid-specific, globin gene expression. Heterodimer with MAFG, MAFK and other small MAF proteins that binds to the MAF recognition elements (MARE). Nucleus High level expression in brain, thymus, testis and placenta. Medium level expression in uterus, stomach and lung. Low level expression in kidney. No expression in heart, liver, spleen and ovary. Belongs to the bZIP family. CNC subfamily. negative regulation of transcription from RNA polymerase II promoter transcription regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter positive regulation of transcription, DNA-templated uc009bxl.1 uc009bxl.2 
ENSMUST00000005108.10 Kdm5a ENSMUST00000005108.10 lysine demethylase 5A (from RefSeq NM_145997.2) ENSMUST00000005108.1 ENSMUST00000005108.2 ENSMUST00000005108.3 ENSMUST00000005108.4 ENSMUST00000005108.5 ENSMUST00000005108.6 ENSMUST00000005108.7 ENSMUST00000005108.8 ENSMUST00000005108.9 Jarid1a KDM5A_MOUSE NM_145997 Q3TM94 Q3UMI5 Q3UXZ9 Q66JZ3 Rbp2 uc009dne.1 uc009dne.2 uc009dne.3 uc009dne.4 Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4' (PubMed:17320161, PubMed:17320163). Regulates specific gene transcription through DNA-binding on 5'-CCGCCC-3' motif. May stimulate transcription mediated by nuclear receptors. Involved in transcriptional regulation of Hox proteins during cell differentiation (By similarity). May participate in transcriptional repression of cytokines such as CXCL12. Plays a role in the regulation of the circadian rhythm and in maintaining the normal periodicity of the circadian clock. In a histone demethylase-independent manner, acts as a coactivator of the CLOCK-BMAL1-mediated transcriptional activation of PER1/2 and other clock-controlled genes and increases histone acetylation at PER1/2 promoters by inhibiting the activity of HDAC1 (PubMed:21960634). Seems to act as a transcriptional corepressor for some genes such as MT1F and to favor the proliferation of cancer cells (By similarity). Reaction=3 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(4)- [histone H3] + 3 O2 = 3 CO2 + 3 formaldehyde + L-lysyl(4)-[histone H3] + 3 succinate; Xref=Rhea:RHEA:60208, Rhea:RHEA-COMP:15537, Rhea:RHEA-COMP:15547, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:29969, ChEBI:CHEBI:30031, ChEBI:CHEBI:61961; EC=1.14.11.67; Evidence=; Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; Note=Binds 1 Fe(2+) ion per subunit. ; Interacts with RB1, ESR1, MYC, MYCN and LMO2 (By similarity). Interacts with SUZ12; the interaction is direct (PubMed:20064375). Interacts with BMAL1 and CLOCK (PubMed:21960634). Interacts with HDAC1; this interaction impairs histone deacetylation by HDAC1 (PubMed:21960634). Interacts (via PHD-type 1 zinc finger) with histone H3 unmodified at 'Lys-4' and (via PHD-type 3 zinc finger) with histone H3 di- and trimethylated at 'Lys-4' (By similarity). Q3UXZ9; Q80U70: Suz12; NbExp=2; IntAct=EBI-2531441, EBI-2526494; Nucleus, nucleolus Nucleus te=Occupies promoters of genes involved in RNA metabolism and mitochondrial function. The GSGFP motif is required for the interaction with SUZ12 (PubMed:20064375). The ARID domain specifically binds to the CCGCCC motif and is required for the lysine-specific histone demethylase activity. The PHD-type 3 zinc finger is required for the interaction with histone H3 di- and trimethylated at 'Lys-4' (By similarity). Mice are grossly normal, except that they exhibit behavioral abnormalities when held upside down by the tail, and slight hematological defects. Belongs to the JARID1 histone demethylase family. Sequence=BAE22414.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; negative regulation of transcription from RNA polymerase II promoter DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus nucleolus chromatin organization chromatin remodeling multicellular organism development spermatogenesis zinc ion binding male gonad development oxidoreductase activity chromatin DNA binding histone demethylase activity circadian regulation of gene expression protein-DNA complex histone demethylase activity (H3-trimethyl-K4 specific) histone demethylase activity (H3-dimethyl-K4 specific) histone H3-K4 demethylation histone H3-K4 demethylation, trimethyl-H3-K4-specific methylated histone binding histone methyltransferase complex histone binding transcription regulatory region DNA binding positive regulation of transcription, DNA-templated metal ion binding rhythmic process regulation of sequence-specific DNA binding transcription factor activity dioxygenase activity oxidation-reduction process negative regulation of histone deacetylase activity uc009dne.1 uc009dne.2 uc009dne.3 uc009dne.4 
ENSMUST00000005173.11 Sgsh ENSMUST00000005173.11 N-sulfoglucosamine sulfohydrolase (sulfamidase) (from RefSeq NM_018822.3) ENSMUST00000005173.1 ENSMUST00000005173.10 ENSMUST00000005173.2 ENSMUST00000005173.3 ENSMUST00000005173.4 ENSMUST00000005173.5 ENSMUST00000005173.6 ENSMUST00000005173.7 ENSMUST00000005173.8 ENSMUST00000005173.9 NM_018822 Q9EQ08 Q9EQ08_MOUSE Sgsh uc007mql.1 uc007mql.2 uc007mql.3 Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Belongs to the sulfatase family. catalytic activity protein binding glycosaminoglycan binding lysosome glycosaminoglycan catabolic process N-acetylglucosamine-6-sulfatase activity sulfuric ester hydrolase activity N-sulfoglucosamine sulfohydrolase activity hydrolase activity heparan sulfate proteoglycan catabolic process heparan sulfate proteoglycan metabolic process uc007mql.1 uc007mql.2 uc007mql.3 
ENSMUST00000005185.8 Cstb ENSMUST00000005185.8 cystatin B (from RefSeq NM_007793.3) CYTB_MOUSE Cst6 ENSMUST00000005185.1 ENSMUST00000005185.2 ENSMUST00000005185.3 ENSMUST00000005185.4 ENSMUST00000005185.5 ENSMUST00000005185.6 ENSMUST00000005185.7 NM_007793 Q3UAW2 Q62426 Stfb uc007fxt.1 uc007fxt.2 uc007fxt.3 This is an intracellular thiol proteinase inhibitor. Cytoplasm. Widely expressed. Highest expression in heart, liver and kidney. Lower levels in brain, lung and skeletal muscle. Lowest levels in spleen and testis. Belongs to the cystatin family. protease binding endopeptidase inhibitor activity cysteine-type endopeptidase inhibitor activity extracellular space nucleus nucleolus cytoplasm cytosol adult locomotory behavior negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity negative regulation of proteolysis uc007fxt.1 uc007fxt.2 uc007fxt.3 
ENSMUST00000005188.14 Sh2b2 ENSMUST00000005188.14 SH2B adaptor protein 2, transcript variant 1 (from RefSeq NM_018825.5) Aps ENSMUST00000005188.1 ENSMUST00000005188.10 ENSMUST00000005188.11 ENSMUST00000005188.12 ENSMUST00000005188.13 ENSMUST00000005188.2 ENSMUST00000005188.3 ENSMUST00000005188.4 ENSMUST00000005188.5 ENSMUST00000005188.6 ENSMUST00000005188.7 ENSMUST00000005188.8 ENSMUST00000005188.9 NM_018825 O88936 Q6PG00 Q9JID9 SH2B2_MOUSE uc009aah.1 uc009aah.2 uc009aah.3 uc009aah.4 Adapter protein for several members of the tyrosine kinase receptor family. Involved in multiple signaling pathways. May be involved in coupling from immunoreceptor to Ras signaling. Acts as a negative regulator of cytokine signaling in collaboration with CBL. Binds to EPOR and suppresses EPO-induced STAT5 activation, possibly through a masking effect on STAT5 docking sites in EPOR. Suppresses PDGF-induced mitogenesis. May induce cytoskeletal reorganization via interaction with VAV3 (By similarity). Homodimer. Interacts with KIT/c-KIT, SHC1, EPOR, PDGFR, VAV1 and VAV3. Interacts (via N-terminal region) with SHC1. Interacts (via the phosphorylated C-terminus) with GRB2. Interacts (via its SH2 domain) with EPOR, INSR and KIT. Interacts with GRB2 after B-cell antigen receptor stimulation. Interacts (via PH domain) with VAV3. Interacts with NTRK1, NTRK2 and NTRK3 (phosphorylated); after stimulation of the receptor by its extracellular ligand and subsequent autophosphorylation of the receptor. Binds INSR, GRB2, ASB6 and CAP. Insulin stimulation leads to dissociation of CAP. Binds CBS only when SH2B2/APS has become phosphorylated. INSR binding does not depend on the phosphorylation of SH2B2/APS (By similarity). Q9JID9; Q61851: Fgfr3; NbExp=3; IntAct=EBI-8100899, EBI-6287052; Cytoplasm Cell membrane Note=Cytoplasmic before PDGF stimulation. After PDGF stimulation, localized at the cell membrane and peripheral region (By similarity). Strongly expressed in brain; also expressed in spleen, kidney and skeletal muscle, and at low levels in small intestine and bone marrow. Strongly expressed in B-cell lines, but not T-cell lines. Also expressed in myeloid and fibroblast cell lines. Tyrosine phosphorylated by JAK2, KIT and other kinases activated by B-cell receptor in response to stimulation with cytokines, IL3, IL5, PDGF, IGF1, IGF2, CSF2/GM-CSF and cross-linking of the B-cell receptor complex. Belongs to the SH2B adapter family. stress fiber ruffle B-1 B cell homeostasis transmembrane receptor protein tyrosine kinase adaptor activity SH3/SH2 adaptor activity protein binding cytoplasm actin filament plasma membrane signal transduction nervous system development insulin receptor signaling pathway positive regulation of signal transduction membrane cytokine-mediated signaling pathway regulation of metabolic process actin cytoskeleton organization intracellular signal transduction signaling adaptor activity glucose homeostasis identical protein binding negative regulation of glucose import regulation of Ras protein signal transduction regulation of immune response antigen receptor-mediated signaling pathway brown fat cell differentiation uc009aah.1 uc009aah.2 uc009aah.3 uc009aah.4 
ENSMUST00000005233.12 Eif2ak4 ENSMUST00000005233.12 eukaryotic translation initiation factor 2 alpha kinase 4, transcript variant 1 (from RefSeq NM_013719.4) A2AUM0 A2AUM0_MOUSE ENSMUST00000005233.1 ENSMUST00000005233.10 ENSMUST00000005233.11 ENSMUST00000005233.2 ENSMUST00000005233.3 ENSMUST00000005233.4 ENSMUST00000005233.5 ENSMUST00000005233.6 ENSMUST00000005233.7 ENSMUST00000005233.8 ENSMUST00000005233.9 Eif2ak4 NM_013719 uc008lrw.1 uc008lrw.2 uc008lrw.3 uc008lrw.4 Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily. DNA damage checkpoint nucleotide binding protein kinase activity eukaryotic translation initiation factor 2alpha kinase activity ATP binding protein phosphorylation regulation of translational initiation by eIF2 alpha phosphorylation cellular response to amino acid starvation eiF2alpha phosphorylation in response to endoplasmic reticulum stress regulation of eIF2 alpha phosphorylation by amino acid starvation cellular response to cold uc008lrw.1 uc008lrw.2 uc008lrw.3 uc008lrw.4 
ENSMUST00000005234.13 Wdr1 ENSMUST00000005234.13 WD repeat domain 1 (from RefSeq NM_011715.3) ENSMUST00000005234.1 ENSMUST00000005234.10 ENSMUST00000005234.11 ENSMUST00000005234.12 ENSMUST00000005234.2 ENSMUST00000005234.3 ENSMUST00000005234.4 ENSMUST00000005234.5 ENSMUST00000005234.6 ENSMUST00000005234.7 ENSMUST00000005234.8 ENSMUST00000005234.9 NM_011715 Q3TJY2 Q3TJY2_MOUSE Wdr1 uc033ije.1 uc033ije.2 uc033ije.3 Belongs to the WD repeat AIP1 family. actin filament plasma membrane cell-cell junction cell junction regulation of actin filament depolymerization apical junction assembly maintenance of epithelial cell apical/basal polarity regulation of oligodendrocyte differentiation uc033ije.1 uc033ije.2 uc033ije.3 
ENSMUST00000005255.9 Ccn4 ENSMUST00000005255.9 cellular communication network factor 4, transcript variant 3 (from RefSeq NR_177940.1) Ccn4 ENSMUST00000005255.1 ENSMUST00000005255.2 ENSMUST00000005255.3 ENSMUST00000005255.4 ENSMUST00000005255.5 ENSMUST00000005255.6 ENSMUST00000005255.7 ENSMUST00000005255.8 NR_177940 Q3UFJ5 Q3UFJ5_MOUSE Wisp1 uc007wau.1 uc007wau.2 uc007wau.3 Secreted Belongs to the CCN family. Lacks conserved residue(s) required for the propagation of feature annotation. insulin-like growth factor binding extracellular region extracellular space cytosol positive regulation of osteoblast differentiation regulation of cytokine secretion positive regulation of inflammatory response uc007wau.1 uc007wau.2 uc007wau.3 
ENSMUST00000005256.14 Ndrg1 ENSMUST00000005256.14 N-myc downstream regulated gene 1 (from RefSeq NM_008681.2) ENSMUST00000005256.1 ENSMUST00000005256.10 ENSMUST00000005256.11 ENSMUST00000005256.12 ENSMUST00000005256.13 ENSMUST00000005256.2 ENSMUST00000005256.3 ENSMUST00000005256.4 ENSMUST00000005256.5 ENSMUST00000005256.6 ENSMUST00000005256.7 ENSMUST00000005256.8 ENSMUST00000005256.9 NDRG1_MOUSE NM_008681 Ndr1 Ndrl P97862 Q62433 Tdd5 uc007wax.1 uc007wax.2 uc007wax.3 Stress-responsive protein involved in hormone responses, cell growth, and differentiation. Acts as a tumor suppressor in many cell types. Necessary but not sufficient for p53/TP53-mediated caspase activation and apoptosis. Required for vesicular recycling of CDH1 and TF. May also function in lipid trafficking. Protects cells from spindle disruption damage. Functions in p53/TP53-dependent mitotic spindle checkpoint. Regulates microtubule dynamics and maintains euploidy (By similarity). Has a role in cell trafficking notably of the Schwann cell and is necessary for the maintenance and development of the peripheral nerve myelin sheath. Interacts with RAB4A (membrane-bound form); the interaction involves NDRG1 in vesicular recycling of CDH1. Interacts with APOA1, APOA2, PRA1 and RTN1 (By similarity). Cytoplasm, cytosol. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Cell membrane Note=Mainly cytoplasmic but differentially localized to other regions. Associates with the plasma membrane in intestinal epithelia and lactating mammary gland. Translocated to the nucleus in a p53/TP53-dependent manner. In prostate epithelium and placental chorion, located in both the cytoplasm and in the nucleus. No nuclear localization in colon epithelium cells. In intestinal mucosa, prostate and renal cortex, located predominantly adjacent to adherens junctions. Cytoplasmic with granular staining in proximal tubular cells of the kidney and salivary gland ducts. Recruits to the membrane of recycling/sorting and late endosomes via binding to phosphatidylinositol 4-phosphate. Associates with microtubules. Colocalizes with TUBG1 in the centrosome. Cytoplasmic location increased with hypoxia. Phosphorylated form found associated with centromeres during S-phase of mitosis and with the plasma membrane (By similarity). Widely expressed, with highest levels in kidney followed by brain, pancreas, small intestine, colon and spleen (at protein level). Also detected in heart and preputial gland, and in much smaller quantities in other tissues. Not detected in duodenum and prostate. Highly expressed in Schwann cells. In early stages of embryo development, expression low when MYCN expression is high. Later, when MYCN levels diminish, levels increase. Repressed by testosterone and also to a lesser extent by dihydrotestosterone. Down-regulated by MYCN. Under stress conditions, phosphorylated in the C-terminal on many serine and threonine residues. Phosphorylated in vitro by PKA. Phosphorylation enhanced by increased intracellular cAMP levels. Homocysteine induces dephosphorylation. Phosphorylation by SGK1 is cell cycle dependent (By similarity). Mutant mice exhibit defects in peripheral nerve development. Initial hind limb weakness developed around age 12 weeks, and significant functional impairment (dragging of hind legs) and muscle atrophy became apparent at age 1 year. After about 5 weeks extensive demyelination of nerve fibers is observed. In later life, large inclusions were seen in the adaxonal Schwann cell cytoplasm. There is no evidence of apoptotic response. Belongs to the NDRG family. nucleus cytoplasm centrosome microtubule organizing center cytosol cytoskeleton microtubule plasma membrane cell-cell adherens junction signal transduction microtubule binding negative regulation of cell proliferation microtubule cytoskeleton membrane Rab GTPase binding DNA damage response, signal transduction by p53 class mediator peripheral nervous system myelin maintenance regulation of cell proliferation gamma-tubulin binding myelin sheath cadherin binding mast cell activation perinuclear region of cytoplasm recycling endosome membrane cellular response to hypoxia glutamatergic synapse uc007wax.1 uc007wax.2 uc007wax.3 
ENSMUST00000005262.2 4930550C14Rik ENSMUST00000005262.2 RIKEN cDNA 4930550C14 gene, transcript variant 1 (from RefSeq NM_029247.4) ENSMUST00000005262.1 MFI_MOUSE Mfi NM_029247 Q3U5F8 Q9D4W2 uc009pmc.1 uc009pmc.2 Acts as an inhibitor of mitochondrial fission. Interacts with MFF and prevents DNM1L recruitment to mitochondria, promoting a more fused mitochondrial network. Can homodimerize (PubMed:30059978). Interacts with MFF; the interaction inhibits MFF interaction with DNM1L (PubMed:30059978). Cytoplasm, cytosol Mitochondrion outer membrane Note=Predominantly localizes to the cytosol, with a minor fraction at the outer mitochondrial membrane. Enriched in the pancreatic beta cell and the testis and is expressed at low levels in other tissues tested. molecular_function cellular_component biological_process uc009pmc.1 uc009pmc.2 
ENSMUST00000005279.8 Klf5 ENSMUST00000005279.8 Kruppel-like transcription factor 5 (from RefSeq NM_009769.4) Bteb2 ENSMUST00000005279.1 ENSMUST00000005279.2 ENSMUST00000005279.3 ENSMUST00000005279.4 ENSMUST00000005279.5 ENSMUST00000005279.6 ENSMUST00000005279.7 Iklf KLF5_MOUSE NM_009769 Q9JMI2 Q9Z0Z7 uc007uvg.1 uc007uvg.2 uc007uvg.3 uc007uvg.4 Transcription factor that binds to GC box promoter elements. Activates the transcription of these genes. Interacts with WWP1. Interacts with ANP32B; this interaction induces promoter region-specific histone incorporation and inhibition of histone acetylation by ANP32B. Q9Z0Z7; Q969H0: FBXW7; Xeno; NbExp=2; IntAct=EBI-647919, EBI-359574; Nucleus. Highest expression in digestive track. The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. Ubiquitinated (By similarity). Polyubiquitination involves WWP1 and leads to proteasomal degradation of this protein. Belongs to the krueppel C2H2-type zinc-finger protein family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding angiogenesis nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex Golgi apparatus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription factor binding positive regulation of cell proliferation regulation of gene expression skeletal muscle satellite cell differentiation satellite cell activation involved in skeletal muscle regeneration myotube differentiation involved in skeletal muscle regeneration microvillus assembly regulation of microvillus assembly skeletal muscle cell differentiation intracellular membrane-bounded organelle skeletal muscle tissue regeneration MRF binding sequence-specific DNA binding positive regulation of fat cell differentiation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding intestinal epithelial cell development positive regulation of transcription by transcription factor localization cellular response to organic cyclic compound cellular response to peptide positive regulation of pri-miRNA transcription from RNA polymerase II promoter cellular response to leukemia inhibitory factor negative regulation of cardiac vascular smooth muscle cell differentiation uc007uvg.1 uc007uvg.2 uc007uvg.3 uc007uvg.4 
ENSMUST00000005334.3 Shbg ENSMUST00000005334.3 sex hormone binding globulin (from RefSeq NM_011367.2) ENSMUST00000005334.1 ENSMUST00000005334.2 NM_011367 P97497 Q0VB52 SHBG_MOUSE uc007jqp.1 uc007jqp.2 uc007jqp.3 uc007jqp.4 Functions as an androgen transport protein, but may also be involved in receptor mediated processes. Each dimer binds one molecule of steroid. Specific for 5-alpha-dihydrotestosterone, testosterone, and 17-beta-estradiol. Regulates the plasma metabolic clearance rate of steroid hormones by controlling their plasma concentration (By similarity). Homodimer. Secreted Note=In testis, it is synthesized by the Sertoli cells, secreted into the lumen of the seminiferous tubule and transported to the epididymis. steroid binding extracellular region primary spermatocyte growth lipid binding uc007jqp.1 uc007jqp.2 uc007jqp.3 uc007jqp.4 
ENSMUST00000005352.10 Corin ENSMUST00000005352.10 corin, serine peptidase, transcript variant 1 (from RefSeq NM_016869.4) B2RRC6 CORIN_MOUSE Crn ENSMUST00000005352.1 ENSMUST00000005352.2 ENSMUST00000005352.3 ENSMUST00000005352.4 ENSMUST00000005352.5 ENSMUST00000005352.6 ENSMUST00000005352.7 ENSMUST00000005352.8 ENSMUST00000005352.9 Lrp4 NM_016869 Q566K6 Q9Z319 uc008xrj.1 uc008xrj.2 uc008xrj.3 uc008xrj.4 Serine-type endopeptidase involved in atrial natriuretic peptide (NPPA) processing (PubMed:11884416, PubMed:15637153). Converts through proteolytic cleavage the non-functional propeptide NPPA into the active hormone, thereby regulating blood pressure in heart and promoting natriuresis, diuresis and vasodilation (PubMed:11884416, PubMed:15637153, PubMed:22418978). Proteolytic cleavage of pro-NPPA also plays a role in female pregnancy by promoting trophoblast invasion and spiral artery remodeling in uterus (PubMed:22437503). Also acts as a regulator of sodium reabsorption in kidney (PubMed:20613715, PubMed:22418978). May also process pro-NPPB the B-type natriuretic peptide (By similarity). Cell membrane ; Single-pass type II membrane protein [Atrial natriuretic peptide-converting enzyme, 180 kDa soluble fragment]: Secreted Note=Soluble form produced following cleavage by ADAM10. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=E1a, mE1a; IsoId=Q9Z319-1; Sequence=Displayed; Name=2; Synonyms=E1, mE1; IsoId=Q9Z319-2; Sequence=VSP_043953; Highly expressed in heart. Also expressed in pregnant uterus. N-glycosylated; required for processing and activation. Activated through proteolytic processing by a trypsin-like protease; cleaved into a N-terminal propeptide and an activated corin protease fragment. Atrial natriuretic peptide-converting enzyme, 180 kDa soluble fragment is produced by cleavage by ADAM10. Cleavage by ADAM10 to produce soluble 180 kDa soluble fragment takes place after the transmembrane region and before FZ 1 (By similarity). A disulfide bond links the activated corin protease fragment and the N-terminal propeptide. The disulfide bond also links the activated corin protease fragment with Atrial natriuretic peptide-converting enzyme, 180 kDa soluble fragment (By similarity). Mice develop normally, are viable and fertile but develop hypertension. They display increased body weight associated with impaired maturation of pro-NPPA which can be restored by injection of Corin. Spontaneous and salt-sensitive hypertension exacerbated during pregnancy is also noticed. A cardiac hypertrophy is also detected together with a decline in cardiac function later in life (PubMed:15637153). Blood pressure on a high-salt diet is significantly increased: knockout mice show an impairment of urinary sodium excretion and an increase in body weight, but no elevation of plasma renin or serum aldosterone levels (PubMed:22418978). Conditional knockout mice which express Corin in heart only do not display any visible phenotype in non-pregnant mice. In contrast, pregnant conditional knockout mice develop high blood pressure and proteinuria, characteristics of pre- eclampsia. In these mice, trophoblast invasion and uterine spiral artery remodeling are markedly impaired (PubMed:22437503). Corin is disrupted in C57BL/6-Kit(W-sh/W-sh) mice, a genetic inversion used as mast cell-deficient model. Phenotypes in C57BL/6-Kit(W-sh/W-sh) mice are mainly due to the absence of Kit, a receptor for mast cell development. The absence of Corin probably leads to immediate significant cardiac hypertrophy and contractile dysfunction in response to pressure overload (PubMed:21903139). Belongs to the peptidase S1 family. regulation of systemic arterial blood pressure by atrial natriuretic peptide serine-type endopeptidase activity scavenger receptor activity extracellular region plasma membrane integral component of plasma membrane proteolysis endocytosis female pregnancy regulation of blood pressure peptidase activity serine-type peptidase activity cell surface actin cytoskeleton membrane integral component of membrane peptide hormone processing nuclear body hydrolase activity neuron differentiation cytoplasmic vesicle regulation of renal sodium excretion uc008xrj.1 uc008xrj.2 uc008xrj.3 uc008xrj.4 
ENSMUST00000005364.12 G6pc2 ENSMUST00000005364.12 glucose-6-phosphatase, catalytic, 2, transcript variant 1 (from RefSeq NM_021331.4) A2AUN2 ENSMUST00000005364.1 ENSMUST00000005364.10 ENSMUST00000005364.11 ENSMUST00000005364.2 ENSMUST00000005364.3 ENSMUST00000005364.4 ENSMUST00000005364.5 ENSMUST00000005364.6 ENSMUST00000005364.7 ENSMUST00000005364.8 ENSMUST00000005364.9 G6PC2_MOUSE Igrp NM_021331 Q2M2M7 Q9Z186 uc008jxy.1 uc008jxy.2 uc008jxy.3 uc008jxy.4 This gene encodes an enzyme that belongs to the glucose-6-phosphatase catalytic subunit family. Members of this family catalyze the hydrolysis of glucose-6-phosphate, the terminal step in gluconeogenic and glycogenolytic pathways, to release glucose into the bloodstream. The family member encoded by this gene is found specifically in pancreatic islets but has not been shown to have phosphotransferase or phosphatase activity exhibited by a similar liver enzyme. The non-obese diabetic (NOD) mouse is a model for human type 1 diabetes, an autoimmune disease in which T lymphocytes attack and destroy insulin-producing pancreatic beta cells. In NOD mice, the protein encoded by this gene is a major target of cell-mediated autoimmunity. Variations in the human and mouse genes are associated with lower fasting plasma glucose levels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]. May hydrolyze glucose-6-phosphate to glucose in the endoplasmic reticulum. May be responsible for glucose production through glycogenolysis and gluconeogenesis (By similarity). Reaction=D-glucose 6-phosphate + H2O = D-glucose + phosphate; Xref=Rhea:RHEA:16689, ChEBI:CHEBI:4167, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:61548; EC=3.1.3.9; Evidence=; Carbohydrate biosynthesis; gluconeogenesis. Endoplasmic reticulum membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Z186-1; Sequence=Displayed; Name=2; IsoId=Q9Z186-2; Sequence=VSP_033650, VSP_033651; Specifically expressed in pancreatic islet cells, in particular those of beta-cell origin. Not detected in testis, kidney, muscle, liver, lung, spleen, brain, pituitary, gastric fundus or heart. Initial onset of expression in the pancreas is at 12 dpc and prominent expression is detected at 14 dpc. Up-regulated in islet cells cultured in hyperglycemic concentrations of glucose. N-glycosylated; the non-glycosylated form is more unstable and is degraded through the proteasome. Mice are no overt anatomical or behavioral phenotype but display a mild metabolic phenotype. Upon fasting those mice exhibit a significant decrease in blood glucose and triacylglycerol compared to wild-type mice. G6pc2 is an autoantigen which is the natural target of a prevalent T-cell population causing insulin-dependent diabetes mellitus through destruction of pancreatic beta cells. Belongs to the glucose-6-phosphatase family. Sequence=AAI11906.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence=; glucose-6-phosphatase activity endoplasmic reticulum endoplasmic reticulum membrane gluconeogenesis membrane integral component of membrane dephosphorylation hydrolase activity glucose homeostasis regulation of insulin secretion glucose 6-phosphate metabolic process uc008jxy.1 uc008jxy.2 uc008jxy.3 uc008jxy.4 
ENSMUST00000005365.15 Spc25 ENSMUST00000005365.15 SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae), transcript variant 3 (from RefSeq NM_001199124.2) ENSMUST00000005365.1 ENSMUST00000005365.10 ENSMUST00000005365.11 ENSMUST00000005365.12 ENSMUST00000005365.13 ENSMUST00000005365.14 ENSMUST00000005365.2 ENSMUST00000005365.3 ENSMUST00000005365.4 ENSMUST00000005365.5 ENSMUST00000005365.6 ENSMUST00000005365.7 ENSMUST00000005365.8 ENSMUST00000005365.9 NM_001199124 Q3UA16 Q9D021 Q9D1K6 SPC25_MOUSE Spbc25 uc008jxw.1 uc008jxw.2 uc008jxw.3 uc008jxw.4 uc008jxw.5 This gene encodes a component of the kinetochore-associated NDC80 protein complex, which is required for the mitotic spindle checkpoint and for microtubule-kinetochore attachment. During meiosis in mouse, the protein localizes to the germinal vesicle and then is associated with the chromosomes following germinal vesicle breakdown. Knockdown of this gene in oocytes results in precocious polar body extrusion, chromosome misalignment and aberrant spindle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. Acts as a component of the essential kinetochore-associated NDC80 complex, which is required for chromosome segregation and spindle checkpoint activity. Required for kinetochore integrity and the organization of stable microtubule binding sites in the outer plate of the kinetochore. The NDC80 complex synergistically enhances the affinity of the SKA1 complex for microtubules and may allow the NDC80 complex to track depolymerizing microtubules. Component of the NDC80 complex, which consists of NDC80/HEC1, CDCA1, SPBC24 and SPBC25. The NDC80 complex is formed by two subcomplexes composed of NDC80/HEC1-CDCA1 and SPBC24-SPBC25. Each subcomplex is formed by parallel interactions through the coiled-coil domains of individual subunits. Formation of a tetrameric complex is mediated by interactions between the C-terminal regions of both subunits of the NDC80/HEC1-CDCA1 subcomplex and the N-terminal regions of both subunits of the SPBC24-SPBC25 complex. The tetrameric NDC80 complex has an elongated rod-like structure with globular domains at either end (By similarity). Nucleus Chromosome, centromere, kinetochore Note=Localizes to kinetochores from late prophase to anaphase. Localizes specifically to the outer plate of the kinetochore. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q3UA16-1; Sequence=Displayed; Name=2; IsoId=Q3UA16-2; Sequence=VSP_020518; Name=3; IsoId=Q3UA16-3; Sequence=VSP_020519; Belongs to the SPC25 family. chromosome, centromeric region kinetochore condensed chromosome kinetochore molecular_function nucleus chromosome cytosol cell cycle mitotic spindle organization chromosome segregation Ndc80 complex cell division uc008jxw.1 uc008jxw.2 uc008jxw.3 uc008jxw.4 uc008jxw.5 
ENSMUST00000005399.10 Zfp287 ENSMUST00000005399.10 Nucleus (from UniProt Q5SVS9) AF281141 ENSMUST00000005399.1 ENSMUST00000005399.2 ENSMUST00000005399.3 ENSMUST00000005399.4 ENSMUST00000005399.5 ENSMUST00000005399.6 ENSMUST00000005399.7 ENSMUST00000005399.8 ENSMUST00000005399.9 Q5SVS9 Q5SVS9_MOUSE Zfp287 uc287yxm.1 uc287yxm.2 Nucleus nucleic acid binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated metal ion binding uc287yxm.1 uc287yxm.2 
ENSMUST00000005431.6 Letm1 ENSMUST00000005431.6 leucine zipper-EF-hand containing transmembrane protein 1 (from RefSeq NM_019694.2) ENSMUST00000005431.1 ENSMUST00000005431.2 ENSMUST00000005431.3 ENSMUST00000005431.4 ENSMUST00000005431.5 LETM1_MOUSE Letm1 NM_019694 Q5PQC5 Q7TMK8 Q80ZX6 Q8CGJ3 Q8K5E5 Q9Z2I0 uc008xbi.1 uc008xbi.2 uc008xbi.3 Plays an important role in maintenance of mitochondrial morphology and in mediating either calcium or potassium/proton antiport (PubMed:27669901, PubMed:23716663). Mediates proton-dependent calcium efflux from mitochondrion (PubMed:27669901, PubMed:23716663). Functions also as an electroneutral mitochondrial proton/potassium exchanger (By similarity). Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain (By similarity). Required for the maintenance of the tubular shape and cristae organization (By similarity). Essential for early embryonic development (PubMed:23716663). Reaction=Ca(2+)(in) + 2 H(+)(out) = Ca(2+)(out) + 2 H(+)(in); Xref=Rhea:RHEA:72199, ChEBI:CHEBI:15378, ChEBI:CHEBI:29108; Evidence=; Reaction=H(+)(out) + K(+)(in) = H(+)(in) + K(+)(out); Xref=Rhea:RHEA:29467, ChEBI:CHEBI:15378, ChEBI:CHEBI:29103; Evidence=; Inhibited by ruthenium red or its derivative Ru360. Homohexamer (PubMed:27669901). Interacts with BCS1L (By similarity). Interacts with GHITM (By similarity). Mitochondrion inner membrane ; Single-pass membrane protein PINK1-mediated phosphorylation at Thr-191, positively regulates its mitochondrial calcium transport activity. Knockout Letm1 homozygous mice show embryonic lethality before day E6.5 and around 50% of the heterozygotes die before day E13.5 (PubMed:23716663). Surviving mice show reduced mitochondrial calcium uptake, impaired mitochondrial ATP generation capacity, disrupted early embryonic development, altered glucose metabolism and increased susceptibility to seizures (PubMed:23716663). Belongs to the LETM1 family. Sequence=AAH23862.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; Sequence=AAH46326.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; Sequence=AAH55865.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; mitochondrion mitochondrial inner membrane ion transport calcium ion transport mitochondrial calcium ion transport antiporter activity calcium:proton antiporter activity membrane integral component of membrane protein hexamerization cristae formation ribosome binding metal ion binding protein homooligomerization mitochondrial calcium ion homeostasis negative regulation of mitochondrial calcium ion concentration mitochondrial calcium release regulation of cellular hyperosmotic salinity response uc008xbi.1 uc008xbi.2 uc008xbi.3 
ENSMUST00000005452.6 Fgfr4 ENSMUST00000005452.6 fibroblast growth factor receptor 4 (from RefSeq NM_008011.2) A0A0R4IZY3 A0A0R4IZY3_MOUSE ENSMUST00000005452.1 ENSMUST00000005452.2 ENSMUST00000005452.3 ENSMUST00000005452.4 ENSMUST00000005452.5 Fgfr4 NM_008011 uc007qqb.1 uc007qqb.2 uc007qqb.3 Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence= Cell membrane ; Single-pass type I membrane protein Endoplasmic reticulum Endosome Membrane ; Single-pass type I membrane protein Belongs to the protein kinase superfamily. Tyr protein kinase family. Fibroblast growth factor receptor subfamily. nucleotide binding protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity fibroblast growth factor-activated receptor activity ATP binding endoplasmic reticulum Golgi apparatus plasma membrane integral component of plasma membrane cell-cell junction protein phosphorylation heparin binding positive regulation of cell proliferation fibroblast growth factor receptor signaling pathway positive regulation of gene expression regulation of extracellular matrix disassembly membrane integral component of membrane kinase activity phosphorylation cell migration transferase activity fibroblast growth factor binding peptidyl-tyrosine phosphorylation transport vesicle positive regulation of catalytic activity positive regulation of proteolysis protein autophosphorylation positive regulation of ERK1 and ERK2 cascade regulation of bile acid biosynthetic process positive regulation of DNA biosynthetic process uc007qqb.1 uc007qqb.2 uc007qqb.3 
ENSMUST00000005487.12 Txn2 ENSMUST00000005487.12 thioredoxin 2 (from RefSeq NM_019913.5) A2A440 ENSMUST00000005487.1 ENSMUST00000005487.10 ENSMUST00000005487.11 ENSMUST00000005487.2 ENSMUST00000005487.3 ENSMUST00000005487.4 ENSMUST00000005487.5 ENSMUST00000005487.6 ENSMUST00000005487.7 ENSMUST00000005487.8 ENSMUST00000005487.9 NM_019913 P97493 Q545D5 THIOM_MOUSE uc007wog.1 uc007wog.2 uc007wog.3 Important for the control of mitochondrial reactive oxygen species homeostasis, apoptosis regulation and cell viability. Possesses a dithiol-reducing activity. Mitochondrion. Belongs to the thioredoxin family. response to hypoxia nucleolus mitochondrion glycerol ether metabolic process response to oxidative stress peptide-methionine (S)-S-oxide reductase activity response to hormone response to glucose response to organic cyclic compound protein disulfide oxidoreductase activity dendrite cellular response to nutrient levels peptide-methionine (R)-S-oxide reductase activity response to drug neuronal cell body macromolecular complex binding cell redox homeostasis response to axon injury oxidation-reduction process uc007wog.1 uc007wog.2 uc007wog.3 
ENSMUST00000005488.9 Casp14 ENSMUST00000005488.9 caspase 14 (from RefSeq NM_009809.5) Casp14 ENSMUST00000005488.1 ENSMUST00000005488.2 ENSMUST00000005488.3 ENSMUST00000005488.4 ENSMUST00000005488.5 ENSMUST00000005488.6 ENSMUST00000005488.7 ENSMUST00000005488.8 NM_009809 Q542Q1 Q542Q1_MOUSE uc007fyd.1 uc007fyd.2 uc007fyd.3 uc007fyd.4 Belongs to the peptidase C14A family. cysteine-type endopeptidase activity nucleus cytoplasm mitochondrion cytosol proteolysis cysteine-type peptidase activity keratin filament cornification uc007fyd.1 uc007fyd.2 uc007fyd.3 uc007fyd.4 
ENSMUST00000005490.10 Slc1a6 ENSMUST00000005490.10 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (from RefSeq NM_009200.3) EAA4_MOUSE ENSMUST00000005490.1 ENSMUST00000005490.2 ENSMUST00000005490.3 ENSMUST00000005490.4 ENSMUST00000005490.5 ENSMUST00000005490.6 ENSMUST00000005490.7 ENSMUST00000005490.8 ENSMUST00000005490.9 Eaat4 NM_009200 O35544 uc007fyg.1 uc007fyg.2 uc007fyg.3 uc007fyg.4 Sodium-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:9379843). Functions as a symporter that transports one amino acid molecule together with two or three Na(+) ions and one proton, in parallel with the counter-transport of one K(+) ion. Mediates Cl(-) flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na(+) symport (By similarity). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (Probable). Reaction=H(+)(out) + K(+)(in) + L-glutamate(out) + 3 Na(+)(out) = H(+)(in) + K(+)(out) + L-glutamate(in) + 3 Na(+)(in); Xref=Rhea:RHEA:70699, ChEBI:CHEBI:15378, ChEBI:CHEBI:29101, ChEBI:CHEBI:29103, ChEBI:CHEBI:29985; Evidence=; Reaction=H(+)(out) + K(+)(in) + L-aspartate(out) + 3 Na(+)(out) = H(+)(in) + K(+)(out) + L-aspartate(in) + 3 Na(+)(in); Xref=Rhea:RHEA:70851, ChEBI:CHEBI:15378, ChEBI:CHEBI:29101, ChEBI:CHEBI:29103, ChEBI:CHEBI:29991; Evidence=; Reaction=D-aspartate(out) + H(+)(out) + K(+)(in) + 3 Na(+)(out) = D- aspartate(in) + H(+)(in) + K(+)(out) + 3 Na(+)(in); Xref=Rhea:RHEA:71379, ChEBI:CHEBI:15378, ChEBI:CHEBI:29101, ChEBI:CHEBI:29103, ChEBI:CHEBI:29990; Evidence=; Kinetic parameters: KM=40 uM for L-glutamate ; Homotrimer. Cell membrane ; Multi-pass membrane protein Brain specific. Contains eight transmembrane regions plus two helical hairpins that dip into the membrane. These helical hairpin structures play an important role in the transport process. The first enters the membrane from the cytoplasmic side, the second one from the extracellular side. During the transport cycle, the regions involved in amino acid transport, and especially the helical hairpins, move vertically by about 15-18 Angstroms, alternating between exposure to the aqueous phase and reinsertion in the lipid bilayer. In contrast, the regions involved in trimerization do not move. Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A6 subfamily. neurotransmitter uptake L-glutamate transmembrane transporter activity high-affinity glutamate transmembrane transporter activity Golgi apparatus plasma membrane integral component of plasma membrane amino acid transport anion transmembrane transporter activity symporter activity L-glutamate transport membrane integral component of membrane regulation of membrane potential intermediate filament cytoskeleton metal ion binding L-glutamate import across plasma membrane glutamatergic synapse integral component of postsynaptic membrane integral component of presynaptic membrane uc007fyg.1 uc007fyg.2 uc007fyg.3 uc007fyg.4 
ENSMUST00000005493.14 Slc1a3 ENSMUST00000005493.14 solute carrier family 1 (glial high affinity glutamate transporter), member 3 (from RefSeq NM_148938.3) ENSMUST00000005493.1 ENSMUST00000005493.10 ENSMUST00000005493.11 ENSMUST00000005493.12 ENSMUST00000005493.13 ENSMUST00000005493.2 ENSMUST00000005493.3 ENSMUST00000005493.4 ENSMUST00000005493.5 ENSMUST00000005493.6 ENSMUST00000005493.7 ENSMUST00000005493.8 ENSMUST00000005493.9 NM_148938 Q543U3 Q543U3_MOUSE Slc1a3 uc007vey.1 uc007vey.2 uc007vey.3 uc007vey.4 Reaction=D-aspartate(out) + H(+)(out) + K(+)(in) + 3 Na(+)(out) = D- aspartate(in) + H(+)(in) + K(+)(out) + 3 Na(+)(in); Xref=Rhea:RHEA:71379, ChEBI:CHEBI:15378, ChEBI:CHEBI:29101, ChEBI:CHEBI:29103, ChEBI:CHEBI:29990; Evidence=; Reaction=H(+)(out) + K(+)(in) + L-aspartate(out) + 3 Na(+)(out) = H(+)(in) + K(+)(out) + L-aspartate(in) + 3 Na(+)(in); Xref=Rhea:RHEA:70851, ChEBI:CHEBI:15378, ChEBI:CHEBI:29101, ChEBI:CHEBI:29103, ChEBI:CHEBI:29991; Evidence=; Reaction=H(+)(out) + K(+)(in) + L-glutamate(out) + 3 Na(+)(out) = H(+)(in) + K(+)(out) + L-glutamate(in) + 3 Na(+)(in); Xref=Rhea:RHEA:70699, ChEBI:CHEBI:15378, ChEBI:CHEBI:29101, ChEBI:CHEBI:29103, ChEBI:CHEBI:29985; Evidence=; Cell membrane ; Multi-pass membrane protein Membrane ; Multi- pass membrane protein Belongs to the dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. L-glutamate transmembrane transporter activity high-affinity glutamate transmembrane transporter activity integral component of plasma membrane symporter activity glutamate:sodium symporter activity L-glutamate transport membrane integral component of membrane L-glutamate import D-aspartate import potassium ion transmembrane transport L-glutamate import across plasma membrane chloride transmembrane transport uc007vey.1 uc007vey.2 uc007vey.3 uc007vey.4 
ENSMUST00000005503.5 Msh6 ENSMUST00000005503.5 mutS homolog 6 (from RefSeq NM_010830.2) ENSMUST00000005503.1 ENSMUST00000005503.2 ENSMUST00000005503.3 ENSMUST00000005503.4 Gtmbp MSH6_MOUSE Msh6 NM_010830 O54710 P54276 Q6GTK8 uc008dvd.1 uc008dvd.2 uc008dvd.3 uc008dvd.4 Component of the post-replicative DNA mismatch repair system (MMR). Heterodimerizes with MSH2 to form MutS alpha, which binds to DNA mismatches thereby initiating DNA repair. When bound, MutS alpha bends the DNA helix and shields approximately 20 base pairs, and recognizes single base mismatches and dinucleotide insertion-deletion loops (IDL) in the DNA. After mismatch binding, forms a ternary complex with the MutL alpha heterodimer, which is thought to be responsible for directing the downstream MMR events, including strand discrimination, excision, and resynthesis. ATP binding and hydrolysis play a pivotal role in mismatch repair functions. The ATPase activity associated with MutS alpha regulates binding similar to a molecular switch: mismatched DNA provokes ADP-->ATP exchange, resulting in a discernible conformational transition that converts MutS alpha into a sliding clamp capable of hydrolysis-independent diffusion along the DNA backbone. This transition is crucial for mismatch repair. MutS alpha may also play a role in DNA homologous recombination repair. Recruited on chromatin in G1 and early S phase via its PWWP domain that specifically binds trimethylated 'Lys-36' of histone H3 (H3K36me3): early recruitment to chromatin to be replicated allowing a quick identification of mismatch repair to initiate the DNA mismatch repair reaction (By similarity). Component of the DNA mismatch repair (MMR) complex composed at least of MSH2, MSH3, MSH6, PMS1 and MLH1. Heterodimer consisting of MSH2-MSH6 (MutS alpha). Forms a ternary complex with MutL alpha (MLH1- PMS1). Interacts with MCM9. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Nucleus Chromosome Note=Associates with H3K36me3 via its PWWP domain. The PWWP domain specifically recognizes and binds trimethylated 'Lys-36' of histone H3 (H3K36me3). Phosphorylated by PRKCZ, which may prevent MutS alpha degradation by the ubiquitin-proteasome pathway. Belongs to the DNA mismatch repair MutS family. nucleotide binding magnesium ion binding four-way junction DNA binding meiotic mismatch repair nuclear chromatin DNA binding chromatin binding damaged DNA binding double-stranded DNA binding ATP binding nucleus nucleoplasm chromosome Golgi apparatus cytosol DNA repair pyrimidine dimer repair mismatch repair cellular response to DNA damage stimulus DNA-dependent ATPase activity determination of adult lifespan intrinsic apoptotic signaling pathway in response to DNA damage response to UV somatic hypermutation of immunoglobulin genes somatic recombination of immunoglobulin gene segments ATPase activity enzyme binding mismatched DNA binding guanine/thymine mispair binding single guanine insertion binding single thymine insertion binding mismatch repair complex MutSalpha complex oxidized purine DNA binding MutLalpha complex binding methylated histone binding interstrand cross-link repair intracellular membrane-bounded organelle ADP binding maintenance of DNA repeat elements isotype switching negative regulation of DNA recombination positive regulation of helicase activity intrinsic apoptotic signaling pathway uc008dvd.1 uc008dvd.2 uc008dvd.3 uc008dvd.4 
ENSMUST00000005507.10 Mlxipl ENSMUST00000005507.10 MLX interacting protein-like, transcript variant 1 (from RefSeq NM_021455.5) ENSMUST00000005507.1 ENSMUST00000005507.2 ENSMUST00000005507.3 ENSMUST00000005507.4 ENSMUST00000005507.5 ENSMUST00000005507.6 ENSMUST00000005507.7 ENSMUST00000005507.8 ENSMUST00000005507.9 MLXPL_MOUSE Mio NM_021455 Q99MY9 Q99MZ0 Q99MZ1 Q99MZ2 Q99MZ3 Q9JLM5 Wbscr14 uc008zxt.1 uc008zxt.2 uc008zxt.3 uc008zxt.4 Transcriptional repressor. Binds to the canonical and non- canonical E box sequences 5'-CACGTG-3'. Binds DNA as a heterodimer with TCFL4/MLX. Nucleus Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=Zeta; IsoId=Q99MZ3-1; Sequence=Displayed; Name=2; Synonyms=Theta; IsoId=Q99MZ3-2; Sequence=VSP_002174; Name=3; Synonyms=Iota; IsoId=Q99MZ3-3; Sequence=VSP_002177, VSP_002178; Name=4; Synonyms=Kappa; IsoId=Q99MZ3-4; Sequence=VSP_002179, VSP_002180; Name=5; Synonyms=Eta; IsoId=Q99MZ3-5; Sequence=VSP_002175, VSP_002176; Expressed in the ventricular and intermediate zones of the developing spinal cord of 12.5 dpc embryos. In later embryos expressed in a variety of tissues. Phosphorylation at Ser-566 by AMPK inactivates the DNA-binding activity. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex cytoplasm cytosol regulation of glycolytic process regulation of transcription from RNA polymerase II promoter transcription factor binding positive regulation of cell proliferation response to glucose glucose mediated signaling pathway protein kinase binding negative regulation of peptidyl-serine phosphorylation carbohydrate response element binding glucose homeostasis sequence-specific DNA binding positive regulation of fatty acid biosynthetic process positive regulation of glycolytic process negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of lipid biosynthetic process protein heterodimerization activity protein dimerization activity fatty acid homeostasis negative regulation of cell cycle arrest cellular response to glucose stimulus negative regulation of oxidative phosphorylation energy homeostasis uc008zxt.1 uc008zxt.2 uc008zxt.3 uc008zxt.4 
ENSMUST00000005509.11 Stx1a ENSMUST00000005509.11 syntaxin 1A (brain), transcript variant 4 (from RefSeq NR_152855.1) ENSMUST00000005509.1 ENSMUST00000005509.10 ENSMUST00000005509.2 ENSMUST00000005509.3 ENSMUST00000005509.4 ENSMUST00000005509.5 ENSMUST00000005509.6 ENSMUST00000005509.7 ENSMUST00000005509.8 ENSMUST00000005509.9 NR_152855 Q497P1 Q497P1_MOUSE Stx1a uc008zxk.1 uc008zxk.2 uc008zxk.3 Cell membrane Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Single-pass type IV membrane protein Membrane Belongs to the syntaxin family. SNARE binding positive regulation of neurotransmitter secretion SNAP receptor activity plasma membrane intracellular protein transport voltage-gated potassium channel complex response to gravity positive regulation of norepinephrine secretion postsynaptic density membrane integral component of membrane synaptic vesicle exocytosis synaptic vesicle docking vesicle-mediated transport protein sumoylation myosin binding regulation of exocytosis chloride channel inhibitor activity kinase binding protein domain specific binding secretory granule integral component of synaptic vesicle membrane synaptic vesicle membrane protein binding, bridging SNARE complex synaptic vesicle fusion to presynaptic active zone membrane myosin head/neck binding secretion by cell macromolecular complex positive regulation of catecholamine secretion SNARE complex assembly actomyosin presynaptic membrane identical protein binding neuron projection ATP-dependent protein binding intracellular organelle ion channel binding positive regulation of exocytosis positive regulation of calcium ion-dependent exocytosis protein heterodimerization activity protein N-terminus binding calcium-dependent protein binding synaptic vesicle endocytosis presynaptic active zone membrane synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex synaptobrevin 2-SNAP-25-syntaxin-1a complex protein localization to membrane modulation of excitatory postsynaptic potential glutamatergic synapse integral component of presynaptic membrane uc008zxk.1 uc008zxk.2 uc008zxk.3 
ENSMUST00000005532.9 Nid1 ENSMUST00000005532.9 nidogen 1 (from RefSeq NM_010917.3) ENSMUST00000005532.1 ENSMUST00000005532.2 ENSMUST00000005532.3 ENSMUST00000005532.4 ENSMUST00000005532.5 ENSMUST00000005532.6 ENSMUST00000005532.7 ENSMUST00000005532.8 Ent NID1_MOUSE NM_010917 P10493 Q3TKX9 Q8BQI3 Q8C3U8 Q8C9P6 uc007pmg.1 uc007pmg.2 uc007pmg.3 uc007pmg.4 Sulfated glycoprotein widely distributed in basement membranes and tightly associated with laminin. Also binds to collagen IV and perlecan. It probably has a role in cell-extracellular matrix interactions. Interacts with FBLN1 (PubMed:9299350, PubMed:11589703). Interacts with LGALS3BP (PubMed:9501082). Interacts with PLXDC1 (PubMed:16574105). Interacts with SVEP1 (PubMed:36792666). P10493; P02468: Lamc1; NbExp=5; IntAct=EBI-1032117, EBI-7059830; Secreted, extracellular space, extracellular matrix, basement membrane. N- and O-glycosylated. extracellular matrix structural constituent calcium ion binding protein binding collagen binding extracellular region basement membrane extracellular space plasma membrane cell adhesion cell-matrix adhesion positive regulation of cell-substrate adhesion Wnt-protein binding extracellular matrix organization extracellular matrix glomerular basement membrane development Wnt-activated receptor activity receptor complex laminin binding laminin-1 binding proteoglycan binding extracellular matrix binding canonical Wnt signaling pathway cell periphery uc007pmg.1 uc007pmg.2 uc007pmg.3 uc007pmg.4 
ENSMUST00000005548.8 Hmox1 ENSMUST00000005548.8 heme oxygenase 1 (from RefSeq NM_010442.2) ENSMUST00000005548.1 ENSMUST00000005548.2 ENSMUST00000005548.3 ENSMUST00000005548.4 ENSMUST00000005548.5 ENSMUST00000005548.6 ENSMUST00000005548.7 Hmox1 NM_010442 Q3U5U6 Q3U5U6_MOUSE uc009mhc.1 uc009mhc.2 uc009mhc.3 uc009mhc.4 Catalyzes the oxidative cleavage of heme at the alpha-methene bridge carbon, released as carbon monoxide (CO), to generate biliverdin IXalpha, while releasing the central heme iron chelate as ferrous iron. Reaction=heme b + 3 O2 + 3 reduced [NADPH--hemoprotein reductase] = biliverdin IXalpha + CO + Fe(2+) + H(+) + 3 H2O + 3 oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:21764, Rhea:RHEA- COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17245, ChEBI:CHEBI:29033, ChEBI:CHEBI:57618, ChEBI:CHEBI:57991, ChEBI:CHEBI:58210, ChEBI:CHEBI:60344; EC=1.14.14.18; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:21765; Evidence=; Endoplasmic reticulum membrane ; Single-pass type IV membrane protein ; Cytoplasmic side Belongs to the heme oxygenase family. angiogenesis response to hypoxia wound healing involved in inflammatory response heme oxygenase (decyclizing) activity phospholipase D activity nucleus nucleolus endoplasmic reticulum cytosol caveola heme oxidation cellular iron ion homeostasis response to oxidative stress small GTPase mediated signal transduction regulation of blood pressure cell death negative regulation of cell proliferation intrinsic apoptotic signaling pathway in response to DNA damage negative regulation of muscle cell apoptotic process membrane integral component of membrane enzyme binding heme binding cellular response to nutrient negative regulation of mast cell cytokine production erythrocyte homeostasis cellular response to heat response to nicotine intracellular signal transduction heme catabolic process response to hydrogen peroxide protein homodimerization activity negative regulation of mast cell degranulation negative regulation of DNA binding negative regulation of sequence-specific DNA binding transcription factor activity negative regulation of neuron apoptotic process regulation of transcription from RNA polymerase II promoter in response to oxidative stress response to estrogen positive regulation of angiogenesis metal ion binding perinuclear region of cytoplasm positive regulation of smooth muscle cell proliferation negative regulation of smooth muscle cell proliferation regulation of sequence-specific DNA binding transcription factor activity protein homooligomerization iron ion homeostasis oxidation-reduction process cellular response to hypoxia positive regulation of cell migration involved in sprouting angiogenesis liver regeneration negative regulation of extrinsic apoptotic signaling pathway via death domain receptors positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis negative regulation of epithelial cell apoptotic process negative regulation of vascular smooth muscle cell proliferation uc009mhc.1 uc009mhc.2 uc009mhc.3 uc009mhc.4 
ENSMUST00000005583.12 Pafah1b3 ENSMUST00000005583.12 platelet-activating factor acetylhydrolase, isoform 1b, subunit 3, transcript variant 4 (from RefSeq NR_184416.1) ENSMUST00000005583.1 ENSMUST00000005583.10 ENSMUST00000005583.11 ENSMUST00000005583.2 ENSMUST00000005583.3 ENSMUST00000005583.4 ENSMUST00000005583.5 ENSMUST00000005583.6 ENSMUST00000005583.7 ENSMUST00000005583.8 ENSMUST00000005583.9 NR_184416 PA1B3_MOUSE Pafah1b3 Pafahg Q61205 uc009fsf.1 uc009fsf.2 uc009fsf.3 Alpha1 catalytic subunit of the cytosolic type I platelet- activating factor (PAF) acetylhydrolase (PAF-AH (I)) heterotetrameric enzyme that catalyzes the hydrolyze of the acetyl group at the sn-2 position of PAF and its analogs and modulates the action of PAF. The activity and substrate specificity of PAF-AH (I) are affected by its subunit composition. Both alpha1/alpha1 homodimer (PAFAH1B3/PAFAH1B3 homodimer) and alpha1/alpha2 heterodimer(PAFAH1B3/PAFAH1B2 heterodimer) hydrolyze 1-O-alkyl-2-acetyl-sn-glycero-3-phosphoric acid (AAGPA) more efficiently than PAF, but they have little hydrolytic activity towards 1-O-alkyl-2-acetyl-sn-glycero-3-phosphorylethanolamine (AAGPE). Plays an important role during the development of brain. Reaction=a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1-O- alkyl-sn-glycero-3-phosphocholine + acetate + H(+); Xref=Rhea:RHEA:17777, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:30909, ChEBI:CHEBI:36707; EC=3.1.1.47; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:17778; Evidence=; Reaction=1-O-hexadecyl-2-acetyl-sn-glycero-3-phosphocholine + H2O = 1- O-hexadecyl-sn-glycero-3-phosphocholine + acetate + H(+); Xref=Rhea:RHEA:40479, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:44811, ChEBI:CHEBI:64496; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40480; Evidence=; Reaction=1-O-hexadecyl-2-acetyl-sn-glycero-3-phosphate + H2O = 1-O- hexadecyl-sn-glycero-3-phosphate + acetate + H(+); Xref=Rhea:RHEA:41704, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:77580, ChEBI:CHEBI:78385; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41705; Evidence=; Beta subunit (PAFAH1B1) inhibits the acetylhydrolase activity of the alpha1/alpha1 catalytic homodimer. Forms a catalytic dimer which is either homodimer (alpha1/alpha1 homodimer) or heterodimer with PAFAH1B2 (alpha1/alpha2 heterodimer). Component of the cytosolic (PAF-AH (I)) heterotetrameric enzyme, which is composed of PAFAH1B1 (beta), PAFAH1B2 (alpha2) and PAFAH1B3 (alpha1) subunits. The catalytic activity of the enzyme resides in the alpha1 (PAFAH1B3) and alpha2 (PAFAH1B2) subunits, whereas the beta subunit (PAFAH1B1) has regulatory activity. Trimer formation is not essential for the catalytic activity (By similarity). Interacts with VLDLR; this interaction may modulate the Reelin pathway (PubMed:17330141). Q61205; P63005: Pafah1b1; NbExp=2; IntAct=EBI-1007637, EBI-917499; Cytoplasm. Expressed already by the time of neurulation. By 10.5 dpc, expression is abundant in the developing central and peripheral nervous systems. Major sites include the neuroepithelium of the fore-, mid-, and hindbrain, the spinal cord, the dorsal root, and cranial ganglia. In adult brain, expression is greatly diminished. Knockout mice which are homozygous for the PAFAH1B2 gene appear developmentally normal, and are born at the expected Mendelian rate. Mice have normal fertility and normal spermatogenesis. Double mutant female mice which are homozygous for PAFAH1B2 and PAFAH1B3 are grossly normal and fertile, whereas double- mutant males are infertile. Double mutan mice manifest an earlier disturbance of spermatogenesis with an onset at preleptotene or leptotene stages of meiosis. Originally the subunits of the type I platelet- activating factor (PAF) acetylhydrolase was named alpha (PAFAH1B1), beta (PAFAH1B2) and gamma (PAFAH1B3) (By similarity). Now these subunits have been renamed beta (PAFAH1B1), alpha2 (PAFAH1B2) and alpha1 (PAFAH1B3) respectively (By similarity). Belongs to the 'GDSL' lipolytic enzyme family. Platelet- activating factor acetylhydrolase IB beta/gamma subunits subfamily. 1-alkyl-2-acetylglycerophosphocholine esterase activity protein binding cytoplasm cytosol lipid metabolic process spermatogenesis brain development lipid catabolic process hydrolase activity identical protein binding protein heterodimerization activity platelet-activating factor acetyltransferase activity uc009fsf.1 uc009fsf.2 uc009fsf.3 
ENSMUST00000005592.7 Siglecg ENSMUST00000005592.7 sialic acid binding Ig-like lectin G, transcript variant 3 (from RefSeq NR_175813.1) ENSMUST00000005592.1 ENSMUST00000005592.2 ENSMUST00000005592.3 ENSMUST00000005592.4 ENSMUST00000005592.5 ENSMUST00000005592.6 NR_175813 Q80ZE3 SIG10_MOUSE Siglec10 uc009gmo.1 uc009gmo.2 uc009gmo.3 Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3- or alpha-2,6-linked sialic acid (PubMed:20038598). The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. In the immune response, seems to act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules (By similarity). Involved in negative regulation of B-cell antigen receptor signaling and specifically acts on B1 cells to inhibit Ca(2+) signaling, cellular expansion and antibody secretion (PubMed:17572677). The inhibition of B cell activation is dependent on PTPN6/SHP-1 (PubMed:23836061). In association with CD24 may be involved in the selective suppression of the immune response to danger- associated molecular patterns (DAMPs) such as HMGB1, HSP70 and HSP90 (PubMed:19264983). In association with CD24 may regulate the immune repsonse of natural killer (NK) cells (By similarity). Plays a role in the control of autoimmunity (PubMed:20200274). During initiation of adaptive immune responses by CD8-alpha(+) dendritic cells inhibits cross-presentation by impairing the formation of MHC class I-peptide complexes. The function seems to implicate recruitment of PTPN6/SHP-1, which dephosphorylates NCF1 of the NADPH oxidase complex consequently promoting phagosomal acidification (PubMed:27548433). (Microbial infection) During infection by RNA viruses inhibits RIG-I signaling in macrophages by promoting its CBL-dependent ubiquitination and degradation via PTPN11/SHP-2. Interacts with PTPN6/SHP-1 upon phosphorylation. Interacts with NCF1 (PubMed:27548433). Interacts with CD24; the probable CD24:SIGLEC10 complex is proposed to inhibit HGMB1-mediated tissue damage immune response. Interacts with HMGB1; the interaction is dependent on CD24 (PubMed:19264983). Associates with membrane IgM on the B cell surface (PubMed:24790146). Interacts with RIGI, CBL and PTPN11 (PubMed:23374343). Q80ZE3; Q6Q899: Rigi; NbExp=7; IntAct=EBI-6841023, EBI-6841237; Cell membrane ; Single-pass type I membrane protein. Expressed in B cells with high levels in pre-B cells and B1a cells of the peritoneal cavity. Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases. Phosphorylation of Tyr-659 is involved in binding to PTPN6. Cd22/Siglec10 double-deficient mice develop autoimmune disease, which is not observed in single-deficient mice. Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. hematopoietic progenitor cell differentiation adaptive immune response immune system process protein binding plasma membrane cell adhesion membrane integral component of membrane phosphatase binding carbohydrate binding regulation of B cell proliferation SH2 domain binding innate immune response regulation of immune response negative regulation of calcium-mediated signaling negative regulation of immunoglobulin secretion uc009gmo.1 uc009gmo.2 uc009gmo.3 
ENSMUST00000005600.6 Rfx1 ENSMUST00000005600.6 regulatory factor X, 1 (influences HLA class II expression) (from RefSeq NM_009055.4) ENSMUST00000005600.1 ENSMUST00000005600.2 ENSMUST00000005600.3 ENSMUST00000005600.4 ENSMUST00000005600.5 NM_009055 P48377 Q6PGH8 RFX1_MOUSE uc009mlv.1 uc009mlv.2 uc009mlv.3 Regulatory factor essential for MHC class II genes expression. Binds to the X boxes of MHC class II genes (By similarity). Homodimer; binds DNA as a homodimer (By similarity). Heterodimer; heterodimerizes with RFX2 and RFX3 (PubMed:15229132). Nucleus Belongs to the RFX family. RNA polymerase II core promoter proximal region sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter intracellular membrane-bounded organelle uc009mlv.1 uc009mlv.2 uc009mlv.3 
ENSMUST00000005601.9 Il27ra ENSMUST00000005601.9 interleukin 27 receptor, alpha, transcript variant 1 (from RefSeq NM_016671.4) E9QNY4 ENSMUST00000005601.1 ENSMUST00000005601.2 ENSMUST00000005601.3 ENSMUST00000005601.4 ENSMUST00000005601.5 ENSMUST00000005601.6 ENSMUST00000005601.7 ENSMUST00000005601.8 I27RA_MOUSE NM_016671 O70394 Tccr Wsx1 uc009mlr.1 uc009mlr.2 uc009mlr.3 uc009mlr.4 Receptor for IL27. Requires IL6ST/GP130 to mediate signal transduction in response to IL27. This signaling system acts through STAT3 and STAT1. Involved in the regulation of Th1-type immune responses. Also appears to be involved in innate defense mechanisms. Membrane; Single-pass type I membrane protein. Expressed in CD4+ and CD8+ T-cells, B-cells, natural killer cells and macrophages. Highest levels in CD4+ T-cells and natural killer cells. Expression highest in Th0 cells. Down-regulated on differentiation of CD4+ T-cells in both Th1 and TH2 cells. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding. The box 1 motif is required for JAK interaction and/or activation. Belongs to the type I cytokine receptor family. Type 2 subfamily. negative regulation of cellular extravasation positive regulation of T-helper 1 type immune response negative regulation of type 2 immune response cytokine receptor activity protein binding extracellular region cytoplasm plasma membrane external side of plasma membrane membrane integral component of membrane cytokine-mediated signaling pathway cytokine binding positive regulation of interferon-gamma production positive regulation of tyrosine phosphorylation of STAT protein receptor complex interleukin-27 receptor activity regulation of isotype switching to IgG isotypes defense response to Gram-positive bacterium interleukin-27-mediated signaling pathway negative regulation of interleukin-6 secretion negative regulation of tumor necrosis factor secretion negative regulation of interleukin-17 secretion negative regulation of T-helper 17 type immune response negative regulation of T cell extravasation uc009mlr.1 uc009mlr.2 uc009mlr.3 uc009mlr.4 
ENSMUST00000005606.8 Prkaca ENSMUST00000005606.8 protein kinase, cAMP dependent, catalytic, alpha, transcript variant 1 (from RefSeq NM_008854.5) ENSMUST00000005606.1 ENSMUST00000005606.2 ENSMUST00000005606.3 ENSMUST00000005606.4 ENSMUST00000005606.5 ENSMUST00000005606.6 ENSMUST00000005606.7 KAPCA_MOUSE NM_008854 P05132 Pkaca Q9JID0 uc009mll.1 uc009mll.2 uc009mll.3 uc009mll.4 uc009mll.5 uc009mll.6 This gene encodes a member of the serine/threonine protein kinase family. The holoenzyme, protein kinase A (also known as cyclic-AMP dependent protein kinase), mediates cellular response to changes in cyclic-AMP levels. This gene encodes the alpha catalytic subunit of protein kinase A. Protein kinase A-mediated signaling is transduced via phosphorylation of target proteins, and is important for many cellular functions, including mammalian sperm maturation and motility. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Apr 2013]. Phosphorylates a large number of substrates in the cytoplasm and the nucleus (By similarity). Phosphorylates CDC25B, ABL1, NFKB1, CLDN3, PSMC5/RPT6, PJA2, RYR2, RORA, SOX9 and VASP (PubMed:10805756, PubMed:19223768). Regulates the abundance of compartmentalized pools of its regulatory subunits through phosphorylation of PJA2 which binds and ubiquitinates these subunits, leading to their subsequent proteolysis (By similarity). RORA is activated by phosphorylation. Required for glucose-mediated adipogenic differentiation increase and osteogenic differentiation inhibition from osteoblasts (By similarity). Involved in chondrogenesis by mediating phosphorylation of SOX9 (PubMed:10805756). Involved in the regulation of platelets in response to thrombin and collagen; maintains circulating platelets in a resting state by phosphorylating proteins in numerous platelet inhibitory pathways when in complex with NF-kappa-B (NFKB1 and NFKB2) and I-kappa- B-alpha (NFKBIA), but thrombin and collagen disrupt these complexes and free active PRKACA stimulates platelets and leads to platelet aggregation by phosphorylating VASP. RYR2 channel activity is potentiated by phosphorylation in presence of luminal Ca(2+), leading to reduced amplitude and increased frequency of store overload-induced Ca(2+) release (SOICR) characterized by an increased rate of Ca(2+) release and propagation velocity of spontaneous Ca(2+) waves, despite reduced wave amplitude and resting cytosolic Ca(2+). PSMC5/RPT6 activation by phosphorylation stimulates proteasome. Negatively regulates tight junctions (TJs) in ovarian cancer cells via CLDN3 phosphorylation. NFKB1 phosphorylation promotes NF-kappa-B p50-p50 DNA binding. Required for phosphorylation of GLI transcription factors which inhibits them and prevents transcriptional activation of Hedgehog signaling pathway target genes (PubMed:33886552). GLI transcription factor phosphorylation is inhibited by interaction of PRKACA with SMO which sequesters PRKACA at the cell membrane (PubMed:33886552). Involved in embryonic development by down-regulating the Hedgehog (Hh) signaling pathway that determines embryo pattern formation and morphogenesis most probably through the regulation of OFD1 in ciliogenesis (By similarity). Prevents meiosis resumption in prophase- arrested oocytes via CDC25B inactivation by phosphorylation (PubMed:19223768). May also regulate rapid eye movement (REM) sleep in the pedunculopontine tegmental (PPT) (By similarity). Phosphorylates APOBEC3G and AICDA. Phosphorylates HSF1; this phosphorylation promotes HSF1 nuclear localization and transcriptional activity upon heat shock (By similarity). Acts as a negative regulator of mTORC1 by mediating phosphorylation of RPTOR (By similarity). [Isoform 2]: Phosphorylates and activates ABL1 in sperm flagellum to promote spermatozoa capacitation. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.11; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.11; Evidence= Allosterically activated by various compounds, including ATP. Activated by cAMP; the nucleotide acts as a dynamic and allosteric activator by coupling the two lobes of apo PKA, enhancing the enzyme dynamics synchronously and priming it for catalysis. A number of inactive tetrameric holoenzymes are produced by the combination of homo- or heterodimers of the different regulatory subunits associated with two catalytic subunits. Protein kinase A holoenzyme is comprised of two catalytic (C) and two regulatory (R) subunits which keep the enzyme in an inhibited state before activation by cyclic-AMP. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. The cAMP-dependent protein kinase catalytic subunit binds PJA2. Both isoforms 1 and 2 forms activate cAMP-sensitive PKAI and PKAII holoenzymes by interacting with regulatory subunit (R) of PKA, PRKAR1A/PKR1 and PRKAR2A/PKR2, respectively. Interacts with PRKAR1A and PRKAR2B (By similarity). Interacts with NFKB1, NFKB2 and NFKBIA in platelets; these interactions are disrupted by thrombin and collagen. Binds to ABL1 in spermatozoa and with CDC25B in oocytes. Interacts with APOBEC3G and AICDA (By similarity). Interacts with RAB13; downstream effector of RAB13 involved in tight junction assembly (By similarity). Found in a complex at least composed of MROH2B isoform 2, PRKACA isoform 2 and TCP11 (PubMed:27105888). Interacts with MROH2B isoform 2 (PubMed:27105888). Interacts with HSF1 (By similarity). Isoform 2 interacts with TCP11 (PubMed:27105888). Interacts with TBC1D31; in the regulation of OFD1 (By similarity). Interacts in free form with SMO (via C-terminus); the interaction leads to sequestration of PRKACA at the membrane, preventing PRKACA-mediated phosphorylation of GLI transcription factors (PubMed:33886552). P05132; P63248: Pkia; NbExp=4; IntAct=EBI-400564, EBI-2931786; P05132; P61014: Pln; NbExp=2; IntAct=EBI-400564, EBI-10148373; P05132; P31324: Prkar2b; NbExp=15; IntAct=EBI-400564, EBI-455340; P05132; P39717: GPB2; Xeno; NbExp=2; IntAct=EBI-400564, EBI-20711; P05132; P00514: PRKAR1A; Xeno; NbExp=6; IntAct=EBI-400564, EBI-1041635; Cytoplasm Cell membrane Nucleus Mitochondrion Membrane ; Lipid-anchor Note=Translocates into the nucleus (monomeric catalytic subunit) (By similarity). The inactive holoenzyme is found in the cytoplasm. Distributed throughout the cytoplasm in meiotically incompetent oocytes. Associated to mitochondrion as meiotic competence is acquired. Aggregates around the germinal vesicles (GV) at the immature GV stage oocytes. Colocalizes with HSF1 in nuclear stress bodies (nSBs) upon heat shock (By similarity). Recruited to the cell membrane through interaction with SMO (PubMed:33886552). [Isoform 2]: Cell projection, cilium, flagellum Cytoplasmic vesicle, secretory vesicle, acrosome Note=Expressed in the midpiece region of the sperm flagellum (By similarity). Colocalizes with MROH2B and TCP11 on the acrosome and tail regions in round spermatids and spermatozoa regardless of the capacitation status of the sperm (PubMed:27105888). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=C-alpha-1; IsoId=P05132-1; Sequence=Displayed; Name=2; Synonyms=C-alpha-2, C-alpha-S, C(s); IsoId=P05132-2; Sequence=VSP_004760; [Isoform 2]: Sperm-specific. Accumulates in oocytes before fertilization but fades out after fertilization. Autophosphorylated; phosphorylation is enhanced by vitamin K(2) (By similarity). Phosphorylated on threonine and serine residues. Phosphorylation on Thr-198 is required for full activity (PubMed:8395513, PubMed:9707564). Phosphorylated at Tyr-331 by activated receptor tyrosine kinases EGFR and PDGFR; this increases catalytic efficiency (PubMed:21866565). Asn-3 is partially deaminated to Asp-3 giving rise to 2 major isoelectric variants, called CB and CA respectively. When myristoylated, Ser-11 is autophosphorylated probably in conjunction with deamidation of Asn-3. Frequent early postnatal lethality. Survivals are runted accompanied with mature sperm exhibiting defective forward motility. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. cAMP subfamily. nucleotide binding magnesium ion binding acrosomal vesicle mesoderm formation neural tube closure protein kinase activity protein serine/threonine kinase activity cAMP-dependent protein kinase activity protein serine/threonine/tyrosine kinase activity protein binding ATP binding nucleus nucleoplasm cytoplasm mitochondrion Golgi apparatus centrosome cytosol plasma membrane cilium axoneme cAMP-dependent protein kinase complex mRNA processing protein phosphorylation positive regulation of cell proliferation protein kinase A signaling membrane kinase activity phosphorylation nuclear speck transferase activity Rab GTPase binding peptidyl-serine phosphorylation peptidyl-threonine phosphorylation protein kinase binding protein domain specific binding manganese ion binding cytoplasmic vesicle motile cilium nucleotide-activated protein kinase complex neuromuscular junction ubiquitin protein ligase binding macromolecular complex protein kinase A regulatory subunit binding cellular response to heat sperm flagellum cell projection neuron projection dendritic spine regulation of cellular respiration plasma membrane raft macromolecular complex binding intercellular bridge regulation of osteoblast differentiation protein autophosphorylation positive regulation of protein export from nucleus sperm capacitation perinuclear region of cytoplasm modulation of synaptic transmission negative regulation of meiotic cell cycle regulation of synaptic transmission, glutamatergic regulation of proteasomal protein catabolic process regulation of protein processing positive regulation of cell cycle arrest cellular response to glucose stimulus cellular response to parathyroid hormone stimulus sperm midpiece ciliary base negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning regulation of bicellular tight junction assembly uc009mll.1 uc009mll.2 uc009mll.3 uc009mll.4 uc009mll.5 uc009mll.6 
ENSMUST00000005607.9 Asf1b ENSMUST00000005607.9 anti-silencing function 1B histone chaperone (from RefSeq NM_024184.2) ASF1B_MOUSE Asf1b ENSMUST00000005607.1 ENSMUST00000005607.2 ENSMUST00000005607.3 ENSMUST00000005607.4 ENSMUST00000005607.5 ENSMUST00000005607.6 ENSMUST00000005607.7 ENSMUST00000005607.8 NM_024184 Q8BP41 Q9CTX3 Q9DAP7 uc009mlk.1 uc009mlk.2 uc009mlk.3 Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly (PubMed:12842904, PubMed:17054786). Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly (By similarity). Also involved in the nuclear import of the histone H3- H4 dimer together with importin-4 (IPO4): specifically recognizes and binds newly synthesized histones with the monomethylation of H3 'Lys-9' (H3K9me1) and diacetylation at 'Lys-5' and 'Lys-12' of H4 (H4K5ac and H4K12ac) marks in the cytosol (By similarity). Does not participate in replication-independent nucleosome deposition which is mediated by ASF1A and HIRA (By similarity). Required for gonad development (PubMed:26850882). Interacts with histone H3 (including both histone H3.1 and H3.3) and histone H4 (By similarity). Interacts with the CHAF1A, CHAF1B and RBBP4 subunits of the CAF-1 complex (By similarity). Interacts with HAT1, NASP and TAF1 (By similarity). Interacts with CDAN1. Found in a cytosolic complex with CDAN1, ASF1A, IPO4 and histones H3.1 and H4 (By similarity). Interacts with CREBBP (By similarity). Nucleus Cytoplasm, cytosol Highly expressed in germ cells (PubMed:26850882). Restricted to premeiotic to meiotic stages during spermatogenesis (PubMed:12842904). Expressed in early embryos and germ cells. Phosphorylated by TLK2 (By similarity). Phosphorylated by TLK1 (PubMed:17054786). Mice are viable but display subfertility caused by altered gamete formation (PubMed:26850882). The timing of meiotic entry and the subsequent gonad development is more severely impaired in female than in male mice (PubMed:26850882). Increased perinatal lethality is also increased in the offspring of knockout females (PubMed:26850882). Belongs to the ASF1 family. chromatin nuclear chromatin blastocyst hatching nucleus nucleoplasm chromatin organization chromatin assembly or disassembly nucleosome assembly DNA replication-dependent nucleosome assembly DNA replication-independent nucleosome assembly macromolecular complex histone binding uc009mlk.1 uc009mlk.2 uc009mlk.3 
ENSMUST00000005611.10 Myl10 ENSMUST00000005611.10 myosin, light chain 10, regulatory, transcript variant 1 (from RefSeq NM_021611.3) E9QNY3 E9QNY3_MOUSE ENSMUST00000005611.1 ENSMUST00000005611.2 ENSMUST00000005611.3 ENSMUST00000005611.4 ENSMUST00000005611.5 ENSMUST00000005611.6 ENSMUST00000005611.7 ENSMUST00000005611.8 ENSMUST00000005611.9 Myl10 NM_021611 uc009aau.1 uc009aau.2 uc009aau.3 calcium ion binding mitochondrion uc009aau.1 uc009aau.2 uc009aau.3 
ENSMUST00000005620.10 Dnajb1 ENSMUST00000005620.10 DnaJ heat shock protein family (Hsp40) member B1, transcript variant 1 (from RefSeq NM_018808.3) DNJB1_MOUSE ENSMUST00000005620.1 ENSMUST00000005620.2 ENSMUST00000005620.3 ENSMUST00000005620.4 ENSMUST00000005620.5 ENSMUST00000005620.6 ENSMUST00000005620.7 ENSMUST00000005620.8 ENSMUST00000005620.9 Hsp40 Hspf1 NM_018808 Q9QYJ3 uc009mkp.1 uc009mkp.2 uc009mkp.3 uc009mkp.4 uc009mkp.5 This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. The encoded protein may also inhibit apoptosis. Peritoneal macrophages derived from homozygous knockout mice for this gene exhibit impaired heat tolerance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. Interacts with HSP70 and can stimulate its ATPase activity. Stimulates the association between HSC70 and HIP. Negatively regulates heat shock-induced HSF1 transcriptional activity during the attenuation and recovery phase period of the heat shock response. Stimulates ATP hydrolysis and the folding of unfolded proteins mediated by HSPA1A/B (in vitro). Interacts with DNAJC3. Interacts with HSF1 (via transactivation domain); this interaction results in the inhibition of heat shock- and HSF1-induced transcriptional activity during the attenuation and recovery phase period of the heat shock response. Cytoplasm Nucleus Nucleus, nucleolus Note=Translocates rapidly from the cytoplasm to the nucleus, and especially to the nucleoli, upon heat shock. By heat shock. ATPase activator activity transcription corepressor activity nucleus nucleolus cytoplasm cytosol protein folding postsynaptic density Hsp70 protein binding positive regulation of ATPase activity neuronal cell body dendritic spine protein binding involved in protein folding unfolded protein binding chaperone mediated protein folding requiring cofactor chaperone binding ATPase binding negative regulation of inclusion body assembly negative regulation of transcription from RNA polymerase II promoter in response to stress postsynapse glutamatergic synapse postsynaptic cytosol uc009mkp.1 uc009mkp.2 uc009mkp.3 uc009mkp.4 uc009mkp.5 
ENSMUST00000005630.11 Msh4 ENSMUST00000005630.11 mutS homolog 4, transcript variant 1 (from RefSeq NM_031870.4) ENSMUST00000005630.1 ENSMUST00000005630.10 ENSMUST00000005630.2 ENSMUST00000005630.3 ENSMUST00000005630.4 ENSMUST00000005630.5 ENSMUST00000005630.6 ENSMUST00000005630.7 ENSMUST00000005630.8 ENSMUST00000005630.9 MSH4_MOUSE NM_031870 Q920J1 Q99MT2 uc008rue.1 uc008rue.2 uc008rue.3 uc008rue.4 Involved in meiotic recombination. Required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis. Heterooligomer of MSH4 and MSH5. Chromosome Predominantly expressed in testis. Belongs to the DNA mismatch repair MutS family. nucleotide binding nuclear chromosome resolution of meiotic recombination intermediates condensed chromosome condensed nuclear chromosome synaptonemal complex ovarian follicle development DNA binding ATP binding nucleus nucleoplasm recombination nodule mismatch repair synapsis reciprocal meiotic recombination spermatogenesis female gamete generation DNA-dependent ATPase activity mismatched DNA binding meiotic cell cycle uc008rue.1 uc008rue.2 uc008rue.3 uc008rue.4 
ENSMUST00000005647.4 Ndufs3 ENSMUST00000005647.4 NADH:ubiquinone oxidoreductase core subunit S3 (from RefSeq NM_026688.3) ENSMUST00000005647.1 ENSMUST00000005647.2 ENSMUST00000005647.3 NDUS3_MOUSE NM_026688 Q8BTZ3 Q8R073 Q9DCT2 uc008ktr.1 uc008ktr.2 uc008ktr.3 Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:31916679, PubMed:33148885). Essential for the catalytic activity and assembly of complex I (PubMed:31916679, PubMed:33148885). Reaction=a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+); Xref=Rhea:RHEA:29091, Rhea:RHEA-COMP:9565, Rhea:RHEA- COMP:9566, ChEBI:CHEBI:15378, ChEBI:CHEBI:16389, ChEBI:CHEBI:17976, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=7.1.1.2; Evidence=; Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits (By similarity). Interacts with NDUFAF3 (By similarity). Interacts with RAB5IF (PubMed:31536960). Found in subcomplexes containing subunits NDUFS2, MT-ND1 and NDUFA13 (By similarity). Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side Conditional knockout (KO) in the forebrain neurons results in reduced complex I activity, altered brain energy metabolism, increased locomotor activity with impaired motor coordination, balance and stereotyped behavior, neuroinflammation in cortex and hippocampus, and neuronal death in hippocampus (PubMed:33148885). Conditional KO in skeletal muscle results in development of a progressive myopathy resulting in premature death, muscle degeneration accompanied by increased mitochondrial proliferation and serum lactic acidosis and a decrease in complex I activity, assembly and expression in muscle (PubMed:31916679). Belongs to the complex I 30 kDa subunit family. NADH dehydrogenase activity mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity membrane oxidoreductase activity nuclear body oxidoreductase activity, acting on NAD(P)H negative regulation of cell growth mitochondrial membrane myelin sheath oxidation-reduction process respiratory chain reactive oxygen species metabolic process negative regulation of intrinsic apoptotic signaling pathway uc008ktr.1 uc008ktr.2 uc008ktr.3 
ENSMUST00000005651.13 Por ENSMUST00000005651.13 cytochrome p450 oxidoreductase (from RefSeq NM_008898.2) ENSMUST00000005651.1 ENSMUST00000005651.10 ENSMUST00000005651.11 ENSMUST00000005651.12 ENSMUST00000005651.2 ENSMUST00000005651.3 ENSMUST00000005651.4 ENSMUST00000005651.5 ENSMUST00000005651.6 ENSMUST00000005651.7 ENSMUST00000005651.8 ENSMUST00000005651.9 NCPR_MOUSE NM_008898 P37040 Por uc008zyt.1 uc008zyt.2 uc008zyt.3 uc008zyt.4 This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5. Reaction=NADPH + 2 oxidized [cytochrome P450] = H(+) + NADP(+) + 2 reduced [cytochrome P450]; Xref=Rhea:RHEA:24040, Rhea:RHEA- COMP:14627, Rhea:RHEA-COMP:14628, ChEBI:CHEBI:15378, ChEBI:CHEBI:55376, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:60344; EC=1.6.2.4; Evidence= Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Note=Binds 1 FAD per monomer. ; Name=FMN; Xref=ChEBI:CHEBI:58210; Evidence=; Note=Binds 1 FMN per monomer. ; Endoplasmic reticulum membrane ; Single-pass membrane protein ; Cytoplasmic side Belongs to the NADPH--cytochrome P450 reductase family. In the N-terminal section; belongs to the flavodoxin family. In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. regulation of growth plate cartilage chondrocyte proliferation NADPH-hemoprotein reductase activity cytochrome-b5 reductase activity, acting on NAD(P)H cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane cytosol response to nutrient nitric oxide dioxygenase activity electron carrier activity carnitine metabolic process response to hormone flavonoid metabolic process FMN binding membrane integral component of membrane oxidoreductase activity hydrolase activity internal peptidyl-lysine acetylation fatty acid oxidation enzyme binding electron transport chain positive regulation of chondrocyte differentiation positive regulation of monooxygenase activity response to drug negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process intracellular membrane-bounded organelle nitrate catabolic process positive regulation of cholesterol biosynthetic process positive regulation of smoothened signaling pathway nitric oxide catabolic process iron-cytochrome-c reductase activity flavin adenine dinucleotide binding NADP binding oxidation-reduction process negative regulation of lipase activity demethylation cellular response to gonadotropin stimulus cellular response to follicle-stimulating hormone stimulus cellular response to peptide hormone stimulus positive regulation of steroid hormone biosynthetic process regulation of cholesterol metabolic process cellular organofluorine metabolic process uc008zyt.1 uc008zyt.2 uc008zyt.3 uc008zyt.4 
ENSMUST00000005669.9 Cyp2b13 ENSMUST00000005669.9 cytochrome P450, family 2, subfamily b, polypeptide 13 (from RefSeq NM_007813.2) A6H6J2 A6H6J2_MOUSE Cyp2b13 E9Q713 ENSMUST00000005669.1 ENSMUST00000005669.2 ENSMUST00000005669.3 ENSMUST00000005669.4 ENSMUST00000005669.5 ENSMUST00000005669.6 ENSMUST00000005669.7 ENSMUST00000005669.8 NM_007813 uc009fug.1 uc009fug.2 uc009fug.3 Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Reaction=an organic molecule + O2 + reduced [NADPH--hemoprotein reductase] = an alcohol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:17149, Rhea:RHEA-COMP:11964, Rhea:RHEA- COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:30879, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:142491; EC=1.14.14.1; Evidence=; Name=heme; Xref=ChEBI:CHEBI:30413; Evidence= Endoplasmic reticulum membrane ; Peripheral membrane protein Microsome membrane ; Peripheral membrane protein Belongs to the cytochrome P450 family. monooxygenase activity iron ion binding cytoplasm organic acid metabolic process xenobiotic metabolic process arachidonic acid epoxygenase activity steroid hydroxylase activity oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen epoxygenase P450 pathway heme binding exogenous drug catabolic process intracellular membrane-bounded organelle metal ion binding oxidation-reduction process uc009fug.1 uc009fug.2 uc009fug.3 
ENSMUST00000005671.10 Igf1r ENSMUST00000005671.10 insulin-like growth factor I receptor (from RefSeq NM_010513.3) E9QNX9 E9QNX9_MOUSE ENSMUST00000005671.1 ENSMUST00000005671.2 ENSMUST00000005671.3 ENSMUST00000005671.4 ENSMUST00000005671.5 ENSMUST00000005671.6 ENSMUST00000005671.7 ENSMUST00000005671.8 ENSMUST00000005671.9 Igf1r NM_010513 uc009hja.1 uc009hja.2 uc009hja.3 Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence= Membrane ; Single- pass type I membrane protein Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. nucleotide binding protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity insulin-like growth factor-activated receptor activity insulin receptor binding insulin-like growth factor binding ATP binding protein phosphorylation immune response transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of cell proliferation membrane integral component of membrane kinase activity phosphorylation transferase activity positive regulation of cell migration insulin-like growth factor I binding alphav-beta3 integrin-IGF-1-IGF1R complex peptidyl-tyrosine autophosphorylation identical protein binding negative regulation of apoptotic process intracellular membrane-bounded organelle receptor complex phosphatidylinositol 3-kinase binding insulin binding insulin receptor substrate binding transcytosis regulation of JNK cascade protein autophosphorylation insulin-like growth factor receptor signaling pathway phosphatidylinositol-mediated signaling protein tetramerization inactivation of MAPKK activity beta-amyloid clearance cellular response to beta-amyloid uc009hja.1 uc009hja.2 uc009hja.3 
ENSMUST00000005678.6 Fcer2a ENSMUST00000005678.6 Fc receptor, IgE, low affinity II, alpha polypeptide, transcript variant 1 (from RefSeq NM_013517.4) ENSMUST00000005678.1 ENSMUST00000005678.2 ENSMUST00000005678.3 ENSMUST00000005678.4 ENSMUST00000005678.5 FCER2_MOUSE Fcer2 NM_013517 P20693 Q61556 Q61557 uc009ksn.1 uc009ksn.2 uc009ksn.3 Low-affinity receptor for immunoglobulin E (IgE) and CR2/CD21. Has essential roles in the regulation of IgE production and in the differentiation of B cells. On B cells, initiates IgE-dependent antigen uptake and presentation to T cells. On macrophages, upon IgE binding and antigen cross-linking induces intracellular killing of parasites through activation of L-Arginine-nitric oxide pathway. Homotrimer. Interacts (via C-type lectin domain) with IGHE (via CH3 region); this interaction regulates IgE homeostasis. Interacts (via C-terminus) with CR2/CD21 (via Sushi domain 1 and 2). Cell membrane ; Single-pass type II membrane protein Cell membrane ; Lipid- anchor Secreted Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=A; IsoId=P20693-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P20693-2; Sequence=VSP_003058; Name=3; Synonyms=C; IsoId=P20693-3; Sequence=VSP_003059; N- and O-glycosylated. There are two kinds of Fc receptors for IgE, which differ in both structure and function: high affinity receptors on basophils and mast cells and low affinity receptors on lymphocytes and monocytes. Name=Functional Glycomics Gateway - Glycan Binding; Note=CD23; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_mou_Ctlect_222"; positive regulation of humoral immune response mediated by circulating immunoglobulin plasma membrane external side of plasma membrane membrane integral component of membrane IgE binding carbohydrate binding metal ion binding positive regulation of nitric-oxide synthase activity positive regulation of killing of cells of other organism positive regulation of nitric-oxide synthase biosynthetic process uc009ksn.1 uc009ksn.2 uc009ksn.3 
ENSMUST00000005685.15 Cyp2a5 ENSMUST00000005685.15 cytochrome P450, family 2, subfamily a, polypeptide 5 (from RefSeq NM_007812.4) Cyp2a5 ENSMUST00000005685.1 ENSMUST00000005685.10 ENSMUST00000005685.11 ENSMUST00000005685.12 ENSMUST00000005685.13 ENSMUST00000005685.14 ENSMUST00000005685.2 ENSMUST00000005685.3 ENSMUST00000005685.4 ENSMUST00000005685.5 ENSMUST00000005685.6 ENSMUST00000005685.7 ENSMUST00000005685.8 ENSMUST00000005685.9 NM_007812 Q91X75 Q91X75_MOUSE uc009fuv.1 uc009fuv.2 uc009fuv.3 Cytochromes P450 are a group of heme-thiolate monooxygenases. Reaction=an organic molecule + O2 + reduced [NADPH--hemoprotein reductase] = an alcohol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:17149, Rhea:RHEA-COMP:11964, Rhea:RHEA- COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:30879, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:142491; EC=1.14.14.1; Evidence=; Name=heme; Xref=ChEBI:CHEBI:30413; Evidence= Endoplasmic reticulum membrane Microsome membrane Belongs to the cytochrome P450 family. monooxygenase activity iron ion binding membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen heme binding metal ion binding oxidation-reduction process uc009fuv.1 uc009fuv.2 uc009fuv.3 
ENSMUST00000005692.14 Atp4a ENSMUST00000005692.14 ATPase, H+/K+ exchanging, gastric, alpha polypeptide, transcript variant 1 (from RefSeq NM_001290627.1) ATP4A_MOUSE Atp4a E9QNX7 ENSMUST00000005692.1 ENSMUST00000005692.10 ENSMUST00000005692.11 ENSMUST00000005692.12 ENSMUST00000005692.13 ENSMUST00000005692.2 ENSMUST00000005692.3 ENSMUST00000005692.4 ENSMUST00000005692.5 ENSMUST00000005692.6 ENSMUST00000005692.7 ENSMUST00000005692.8 ENSMUST00000005692.9 NM_001290627 Q64436 Q9CV46 uc057agw.1 uc057agw.2 uc057agw.3 The catalytic subunit of the gastric H(+)/K(+) ATPase pump which transports H(+) ions in exchange for K(+) ions across the apical membrane of parietal cells (PubMed:7762614). Uses ATP as an energy source to pump H(+) ions to the gastric lumen while transporting K(+) ion from the lumen into the cell (PubMed:7762614). Remarkably generates a million-fold proton gradient across the gastric parietal cell membrane, acidifying the gastric juice down to pH 1 (PubMed:10764766). Within a transport cycle, the transfer of a H(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing (E1) to outward-facing state (E2). The release of the H(+) ion in the stomach lumen is followed by binding of K(+) ion converting the pump conformation back to the E1 state (PubMed:7762614) (By similarity). Reaction=ATP + H(+)(in) + H2O + K(+)(out) = ADP + 2 H(+)(out) + K(+)(in) + phosphate; Xref=Rhea:RHEA:22044, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29103, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.19; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22045; Evidence=; The gastric H(+)/K(+) ATPase pump is composed of the catalytic alpha subunit ATP4A and the regulatory beta subunit ATP4B. Interacts (via the P-domain) with ATP4B (via N-terminus); this interaction stabilizes the lumenal-open E2 conformation state and prevents the reverse reaction of the transport cycle. Apical cell membrane ; Multi-pass membrane protein Note=Localized in the apical canalicular membrane of parietal cells (By similarity). Expressed in parietal cells (at protein level). Mutant mice are born at the expected Mendelian rate. They develop achlorhydria, hypergastrinemia and ciliated metaplasia. The parietal cell viability or chief cell differentiation are normal when compared to wild-type littermates. Mutant parietal cells have abnormal morphology characterized by dilated canaliculi with few microvilli, spherical vesicles rather than normal tubulovesicles and enlarged mitochondria filled with concentric cristae. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. nucleotide binding magnesium ion binding sodium:potassium-exchanging ATPase activity ATP binding plasma membrane ion transport potassium ion transport cellular sodium ion homeostasis potassium-transporting ATPase activity hydrogen:potassium-exchanging ATPase activity regulation of proton transport establishment or maintenance of transmembrane electrochemical gradient membrane integral component of membrane apical plasma membrane cellular potassium ion homeostasis sodium ion export from cell response to drug pH reduction metal ion binding protein heterodimerization activity hydrogen ion transmembrane transport potassium ion import across plasma membrane uc057agw.1 uc057agw.2 uc057agw.3 
ENSMUST00000005705.8 Trim28 ENSMUST00000005705.8 tripartite motif-containing 28 (from RefSeq NM_011588.3) ENSMUST00000005705.1 ENSMUST00000005705.2 ENSMUST00000005705.3 ENSMUST00000005705.4 ENSMUST00000005705.5 ENSMUST00000005705.6 ENSMUST00000005705.7 Kap1 Krip1 NM_011588 P70391 Q62318 Q8C283 Q99PN4 TIF1B_MOUSE Tif1b Trim28 uc009ffb.1 uc009ffb.2 uc009ffb.3 uc009ffb.4 Nuclear corepressor for KRAB domain-containing zinc finger proteins (KRAB-ZFPs) (PubMed:20164836, PubMed:22110054, PubMed:25247314, PubMed:27658112). Mediates gene silencing by recruiting CHD3, a subunit of the nucleosome remodeling and deacetylation (NuRD) complex, and SETDB1 (which specifically methylates histone H3 at 'Lys-9' (H3K9me)) to the promoter regions of KRAB target genes. Enhances transcriptional repression by coordinating the increase in H3K9me, the decrease in histone H3 'Lys-9 and 'Lys-14' acetylation (H3K9ac and H3K14ac, respectively) and the disposition of HP1 proteins to silence gene expression. Recruitment of SETDB1 induces heterochromatinization. May play a role as a coactivator for CEBPB and NR3C1 in the transcriptional activation of ORM1. Also a corepressor for ERBB4. Inhibits E2F1 activity by stimulating E2F1-HDAC1 complex formation and inhibiting E2F1 acetylation. May serve as a partial backup to prevent E2F1-mediated apoptosis in the absence of RB1. Important regulator of CDKN1A/p21(CIP1). Has E3 SUMO-protein ligase activity toward itself via its PHD-type zinc finger. Specifically sumoylates IRF7, thereby inhibiting its transactivation activity. Ubiquitinates p53/TP53 leading to its proteasomal degradation; the function is enhanced by MAGEC2 and MAGEA2, and possibly MAGEA3 and MAGEA6. Mediates the nuclear localization of KOX1, ZNF268 and ZNF300 transcription factors. Probably forms a corepressor complex required for activated KRAS-mediated promoter hypermethylation and transcriptional silencing of tumor suppressor genes (TSGs) or other tumor-related genes in colorectal cancer (CRC) cells. Required to maintain a transcriptionally repressive state of genes in undifferentiated embryonic stem cells (ESCs) (PubMed:20164836). In ESCs, in collaboration with SETDB1, is also required for H3K9me3 and silencing of endogenous and introduced retroviruses in a DNA- methylation independent-pathway (PubMed:20164836). Associates at promoter regions of tumor suppressor genes (TSGs) leading to their gene silencing. The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions (By similarity). Acts as a corepressor for ZFP568 (PubMed:22110054, PubMed:27658112). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Protein modification; protein sumoylation. Oligomer; the RBCC domain homotrimerizes and interacts with one molecule of KRAB to form the KRAB-KAP1 corepressor complex. Interacts with SETX (By similarity). Binding to a KRAB domain is an absolute requirement for silencing gene expression. Interacts with a number of KRAB-ZFP proteins including ZNF10, ZFP53, ZFP68, ZNF382 and ZNF256. Interacts with NCOR1, NR3C1 and CHD3. Interacts with CEBPB (via the RING-type and PHD-type zinc fingers). Interacts with CBX5 (via the PxVxL motif); the interaction occurs in interphase nuclei and competes for binding POGZ (PubMed:10562550, PubMed:10330177, PubMed:25247314). Interacts with POGZ; the interaction competes for interaction with CBX5. Interacts with SETDB1; the interaction is enhanced by KAP1 sumoylation, stimulates SETDB1 histone methyltransferase activity and gene silencing. Interacts (via the PHD-type zinc finger) with UBE2I; the interaction is required for sumoylation and repressor activity. Component of the TRIM28/KAP1-ERBB4-MDM2 complex involved in connecting growth factor and DNA damage responses. Interacts directly with ERBB4; the interaction represses ERBB4-mediated transcription activity. Interacts with MDM2; the interaction contributes to p53/TP53 inactivation. Component of the TRIM28/KAP1-MDM2-p53/TP53; involved in regulating p53/TP53 stabilization and activity. Interacts (via the leucine zipper alpha helical coiled-coil) with E2F1 (central region); the interaction inhibits E2F1 acetylation and transcriptional activity. Interacts with PPP1CA; the interaction dephosphorylates TRIM28 at Ser- 824 and forms a complex at the p21 promoter site. Interacts with PPP1CB; the interaction is weak but is increased on dephosphorylation at Ser-824. Interacts with CEBPB and NR3C1. Interacts with CBX5 (via the PxVxL motif); the interaction occurs in interphase nuclei and competes for binding POGZ. Component of a ternary complex that includes TRIM28, a HP1 protein (CBX1, CBX3 OR CBX5), a KRAB domain-containing protein, and DNA. Interacts with SMARCAD1. Interacts with, and sumoylates IRF7. Interacts with MAGEC2. Part of a complex composed of TRIM28, HDAC1, HDAC2 and EHMT2. Interacts (via the RBCC domain) with KOX1 (via the KRAB domain), ZNF268 (via the KRAB domain) and ZNF300 (via the KRAB domain); the interactions increase KOX1, ZNF268 and ZNF300 nuclear localization activities. Interacts with AICDA. The large PER complex involved in the histone methylation is composed of at least PER2, CBX3, TRIM28, SUV39H1 and/or SUV39H2; CBX3 mediates the formation of the complex. Interacts with NR4A3; the interactions potentiates NR4A3 activity on NurRE promoter (PubMed:19321449). Interacts (unphosphorylated or phosphorylated form) with ZBTB1 (via BTB domain) (By similarity). Probably part of a corepressor complex containing ZNF304, TRIM28, SETDB1 and DNMT1. Interacts with ATRX. Forms a complex with ATRX, SETDB1 and ZNF274 (By similarity). Interacts with ZFP568; the interaction mediates ZFP568 transcriptional repression activity (PubMed:22110054, PubMed:27658112). Interacts with RRP1B (By similarity). Interacts with CRY1 (PubMed:27123980). Interacts with ZNF263; recruited to the SIX3 promoter along with other proteins involved in chromatin modification and transcriptional corepression where it contributes to transcriptional repression (By similarity). Interacts with CYREN (via XLF motif) (PubMed:30017584). Interacts with TRIM17; this interaction prevents TRIM28 activity (By similarity). Interacts with ZNF746 (By similarity). Interacts with PHF13 (By similarity). Q62318; O35613: Daxx; NbExp=2; IntAct=EBI-346909, EBI-77304; Q62318; P12813: Nr4a1; NbExp=3; IntAct=EBI-346909, EBI-10896863; Q62318; P17918: Pcna; NbExp=2; IntAct=EBI-346909, EBI-1173716; Q62318-1; P45481: Crebbp; NbExp=2; IntAct=EBI-6876996, EBI-296306; Q62318-1; P20263: Pou5f1; NbExp=3; IntAct=EBI-6876996, EBI-1606219; Nucleus te=Associated with centromeric heterochromatin during cell differentiation through CBX1 (PubMed:10330177). Localizes to sites of DNA damage (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q62318-1; Sequence=Displayed; Name=2; IsoId=Q62318-2; Sequence=VSP_010899, VSP_010900; The HP1 box is both necessary and sufficient for HP1 binding. The PHD-type zinc finger enhances CEBPB transcriptional activity. The PHD-type zinc finger, the HP1 box and the bromo domain, function together to assemble the machinery required for repression of KRAB domain-containing proteins. Acts as an intramolecular SUMO E3 ligase for autosumoylation of bromodomain. The RING-finger-B Box-coiled-coil/tripartite motif (RBCC/TRIM motif) is required for interaction with the KRAB domain of KRAB-zinc finger proteins. Binds four zinc ions per molecule. The RING finger and the N-terminal of the leucine zipper alpha helical coiled-coil region of RBCC are required for oligomerization. Contains one Pro-Xaa-Val-Xaa-Leu (PxVxL) motif, which is required for interaction with chromoshadow domains. This motif requires additional residues -7, -6, +4 and +5 of the central Val which contact the chromoshadow domain. ATM-induced phosphorylation on Ser-824 represses sumoylation leading to the de-repression of expression of a subset of genes involved in cell cycle control and apoptosis in response to genotoxic stress. Dephosphorylation by the phosphatases, PPP1CA and PP1CB forms, allows sumoylation and expression of TRIM28 target genes. Sumoylation/desumoylation events regulate TRIM28-mediated transcriptional repression. Sumoylation is required for interaction with CHD3 and SETDB1 and the corepressor activity. Represses and is repressed by Ser-824 phosphorylation. Enhances the TRIM28 corepressor activity, inhibiting transcriptional activity of a number of genes including GADD45A and CDKN1A/p21. Lys-554, Lys-779 and Lys-804 are the major sites of sumoylation. In response to Dox-induced DNA damage, enhanced phosphorylation on Ser-824 prevents sumoylation and allows de- repression of CDKN1A/p21. Auto-ubiquitinated; enhanced by MAGEA2 and MAGEC2. Citrullinated by PADI4. ADP-ribosylated by SIRT6, promoting TRIM28/KAP1 interaction with CBX5, thereby contributing to the packaging of LINE-1 retrotransposon elements into transcriptionally repressive heterochromatin. Embryonic lethal with arrest at stage E5.5. Gastrulation fails and expression of the critical mesoderm differentiation factor T/brachyury is lost. Belongs to the TRIM/RBCC family. negative regulation of transcription from RNA polymerase II promoter chromatin in utero embryonic development epithelial to mesenchymal transition DNA binding chromatin binding transcription coactivator activity transcription corepressor activity protein kinase activity ubiquitin-protein transferase activity protein binding nucleus nucleoplasm nuclear euchromatin nuclear heterochromatin DNA repair chromatin organization protein phosphorylation Ras protein signal transduction embryo implantation zinc ion binding protein ubiquitination transferase activity protein sumoylation SUMO transferase activity ubiquitin protein ligase binding Krueppel-associated box domain binding positive regulation of protein import into nucleus DNA methylation involved in embryo development positive regulation of DNA binding innate immune response positive regulation of DNA repair negative regulation of single stranded viral RNA replication via double stranded DNA intermediate negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated protein autophosphorylation metal ion binding protein oligomerization convergent extension involved in axis elongation embryonic placenta morphogenesis chromo shadow domain binding positive regulation of methylation-dependent chromatin silencing RNA polymerase II transcription factor complex negative regulation of DNA demethylation negative regulation of viral release from host cell promoter-specific chromatin binding regulation of genetic imprinting sequence-specific DNA binding nucleolus uc009ffb.1 uc009ffb.2 uc009ffb.3 uc009ffb.4 
ENSMUST00000005711.6 Chmp2a ENSMUST00000005711.6 charged multivesicular body protein 2A, transcript variant 2 (from RefSeq NM_026885.3) CHM2A_MOUSE ENSMUST00000005711.1 ENSMUST00000005711.2 ENSMUST00000005711.3 ENSMUST00000005711.4 ENSMUST00000005711.5 NM_026885 Q9DB34 uc009ffc.1 uc009ffc.2 uc009ffc.3 uc009ffc.4 Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis. Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase. Recruited to the reforming nuclear envelope (NE) during anaphase by LEMD2 (By similarity). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Probable core component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentially. In vitro, heteromerizes with CHMP3 (but not CHMP4) to form helical tubular structures that expose membrane- interacting sites on the outside whereas VPS4B can associate on the inside of the tubule. Interacts with CHMP1B, CHMP2B, CHMP3, CHMP4A, CHMP4B, CHMP4C and CHMP5. Interacts with VPS4A; the interaction is direct. Interacts with VPS4B; the interaction is direct. Interacts with MITD1. Interacts with VTA1; the interaction probably involves the open conformation of CHMP2A (By similarity). Late endosome membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasm Nucleus envelope Note=Localizes to the midbody of dividing cells. Localized in two distinct rings on either side of the Fleming body. Localizes to the reforming nuclear envelope on chromatin disks during late anaphase (By similarity). Widely expressed. Highly expressed in brain, heart, liver and kidney. The acidic C-terminus and the basic N-termminus are thought to render the protein in a closed, soluble and inactive conformation through an autoinhibitory intramolecular interaction. The open and active conformation, which enables membrane binding and oligomerization, is achieved by interaction with other cellular binding partners, probably including other ESCRT components. ISGylated in a CHMP5-dependent manner. Isgylation weakens and inhibits its interactions with VPS4A and VTA1 respectively (By similarity). Belongs to the SNF7 family. chromatin ESCRT III complex protein binding nuclear envelope cytoplasm endosome multivesicular body cytosol nucleus organization vacuolar transport mitotic metaphase plate congression membrane invagination exit from mitosis regulation of centrosome duplication protein transport membrane protein domain specific binding membrane coat phosphatidylcholine binding nuclear envelope reassembly late endosome membrane endosome transport via multivesicular body sorting pathway viral budding via host ESCRT complex establishment of protein localization late endosome to vacuole transport regulation of viral process protein polymerization protein homooligomerization protein heterooligomerization negative regulation of cell death regulation of mitotic spindle assembly positive regulation of viral release from host cell positive regulation of exosomal secretion negative regulation of centriole elongation uc009ffc.1 uc009ffc.2 uc009ffc.3 uc009ffc.4 
ENSMUST00000005714.14 Ube2m ENSMUST00000005714.14 ubiquitin-conjugating enzyme E2M, transcript variant 1 (from RefSeq NM_145578.3) ENSMUST00000005714.1 ENSMUST00000005714.10 ENSMUST00000005714.11 ENSMUST00000005714.12 ENSMUST00000005714.13 ENSMUST00000005714.2 ENSMUST00000005714.3 ENSMUST00000005714.4 ENSMUST00000005714.5 ENSMUST00000005714.6 ENSMUST00000005714.7 ENSMUST00000005714.8 ENSMUST00000005714.9 NM_145578 O76069 P61082 Q8VC50 UBC12_MOUSE Ubc-rs2 Ubc12 uc009ffd.1 uc009ffd.2 uc009ffd.3 uc009ffd.4 Accepts the ubiquitin-like protein NEDD8 from the UBA3-NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX1, but not RBX2, suggests that the RBX1-UBE2M complex neddylates specific target proteins, such as CUL1, CUL2, CUL3 and CUL4. Involved in cell proliferation. Reaction=[E1 NEDD8-activating enzyme]-S-[NEDD8 protein]-yl-L-cysteine + [E2 NEDD8-conjugating enzyme]-L-cysteine = [E1 NEDD8-activating enzyme]-L-cysteine + [E2 NEDD8-conjugating enzyme]-S-[NEDD8-protein]- yl-L-cysteine.; EC=2.3.2.34; Evidence=; Protein modification; protein neddylation. Interacts with UBA3 and RBX1. Interacts (N-terminally acetylated form) with (via DCUN1 domain) DCUN1D1, DCUN1D2, DCUN1D3, DCUN1D4 and DCUN1D5. Both the N-terminal docking peptide and the catalytic core domain must bind the UBA3-NAE1 complex simultaneously for optimal transfer of NEDD8. The acetylation of Met-1 increases affinity for DCUN1D1 by about 2 orders of magnitude and is crucial for NEDD8 transfer to cullins. Belongs to the ubiquitin-conjugating enzyme family. UBC12 subfamily. nucleotide binding ubiquitin-protein transferase activity ATP binding cellular protein modification process protein ubiquitination transferase activity NEDD8 transferase activity positive regulation of neuron apoptotic process protein neddylation uc009ffd.1 uc009ffd.2 uc009ffd.3 uc009ffd.4 
ENSMUST00000005749.6 Ctr9 ENSMUST00000005749.6 CTR9 homolog, Paf1/RNA polymerase II complex component (from RefSeq NM_009431.2) CTR9_MOUSE ENSMUST00000005749.1 ENSMUST00000005749.2 ENSMUST00000005749.3 ENSMUST00000005749.4 ENSMUST00000005749.5 Kiaa0155 NM_009431 Q3UFF5 Q3UY40 Q62018 Q66JX4 Q7TPS6 Q8BND9 Q8BRD1 Q8C9W7 Q8C9Y3 Q8CHI1 Sh2bp1 uc009jfx.1 uc009jfx.2 Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser- 5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. Required for mono- and trimethylation on histone H3 'Lys-4' (H3K4me3) and dimethylation on histone H3 'Lys-79' (H3K4me3). Required for Hox gene transcription (By similarity). Required for the trimethylation of histone H3 'Lys-4' (H3K4me3) on genes involved in stem cell pluripotency; this function is synergistic with CXXC1 indicative for an involvement of the SET1 complex. Involved in transcriptional regulation of IL6-responsive genes and in JAK-STAT pathway; may regulate DNA-association of STAT3. Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and SKIC8 (By similarity). The PAF1 complex interacts with PHF5A (PubMed:27749823). Interacts with KMT2A/MLL1 (By similarity). Interacts with STAT3 (PubMed:17911113). Interacts with SETD5 (PubMed:27864380). Interacts with ERCC6 (By similarity). Nucleus speckle Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q62018-1; Sequence=Displayed; Name=2; IsoId=Q62018-2; Sequence=VSP_017846, VSP_017847; Name=3; IsoId=Q62018-3; Sequence=VSP_017848, VSP_017849; Widely expressed. Sequence=AAH53910.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 937.; Evidence=; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core binding endodermal cell fate commitment inner cell mass cell differentiation trophectodermal cell differentiation blastocyst growth blastocyst hatching protein binding nucleus nucleoplasm regulation of transcription, DNA-templated JAK-STAT cascade histone monoubiquitination Wnt signaling pathway histone modification Cdc73/Paf1 complex nuclear speck stem cell population maintenance positive regulation of transcription elongation from RNA polymerase II promoter histone H2B ubiquitination transcriptionally active chromatin SH2 domain binding negative regulation of myeloid cell differentiation positive regulation of transcription from RNA polymerase II promoter regulation of histone H3-K4 methylation positive regulation of histone H3-K4 methylation interleukin-6-mediated signaling pathway cellular response to lipopolysaccharide histone H3-K4 trimethylation negative regulation of mRNA polyadenylation regulation of genetic imprinting positive regulation of histone H3-K79 methylation positive regulation of histone H2B ubiquitination uc009jfx.1 uc009jfx.2 
ENSMUST00000005751.13 Irag1 ENSMUST00000005751.13 inositol 1,4,5-triphosphate receptor associated 1 (from RefSeq NM_194464.3) ENSMUST00000005751.1 ENSMUST00000005751.10 ENSMUST00000005751.11 ENSMUST00000005751.12 ENSMUST00000005751.2 ENSMUST00000005751.3 ENSMUST00000005751.4 ENSMUST00000005751.5 ENSMUST00000005751.6 ENSMUST00000005751.7 ENSMUST00000005751.8 ENSMUST00000005751.9 IRAG1_MOUSE Irag Mrvi1 NM_194464 Q3U069 Q9R2C5 Q9WUX5 uc009jfu.1 uc009jfu.2 uc009jfu.3 uc009jfu.4 uc009jfu.5 This gene is a putative tumor suppressor gene that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein participates in signaling by nitric oxide (NO) to inhibit intracellular calcium release and platelet aggregation in cardiovascular tissue. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]. Plays a role as NO/PRKG1-dependent regulator of IP3-induced calcium release; its phosphorylation by PRKG1 inhibits bradykinin and IP3-induced calcium release from intracellular stores. Recruits PRKG1 to the endoplasmic reticulum and may mediate the assembly of PRKG1 and ITPR1 in a macrocomplex. Involved in PRKG1 signaling cascade leading to inhibition of platelet activation and aggregation. Mediates also NO- dependent inhibition of calcium signaling in gastrointestinal smooth muscle contributing to NO-dependent relaxation. Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1 (By similarity). Interacts with PRKG1/cGKI-beta and ITPR1/IP3R type I. Membrane ; Single-pass membrane protein Cytoplasm, perinuclear region Sarcoplasmic reticulum Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=IRAG1a; IsoId=Q9WUX5-1; Sequence=Displayed; Name=2; IsoId=Q9WUX5-2; Sequence=VSP_028343; Highly expressed in smooth muscle such as aorta, colon and uterus. Detected in the brain, in the thalamus, in the hippocampus and myenteric plexus. Highly expressed in megakaryocytes. Down-regulated during macrophage differentiation. Phosphorylated by PRKG1/cGKI. Mice lacking coiled-coil region N-terminal part exhibit disruption of IRAG1-ITPR1 interaction. They have dilated gastrointestinal tract and disturbed gastrointestinal motility. Smooth muscle are no more relaxed by cGMP after phenilephrine-induced contraction and half of the homozygous mice dies before the age of 6 months. Nitric oxide (NO) and cGMP-mediated inhibition of collagen- induced platelet aggregation is strongly suppressed in platelets of these transgenic mice. growth. IRAG1 gene is a common integration site of murine leukemia virus, leading to induce myeloid leukemia in BXH2 mice. Murine leukemia virus integration occurs at the 5' end of the gene between 2 differentially used promoters and thus probably alters the expression of an important gene for myeloid cell growth. Sequence=AAD22569.1; Type=Frameshift; Evidence=; protein binding cytoplasm membrane integral component of membrane sarcoplasmic reticulum cGMP-mediated signaling negative regulation of smooth muscle contraction perinuclear region of cytoplasm relaxation of vascular smooth muscle uc009jfu.1 uc009jfu.2 uc009jfu.3 uc009jfu.4 uc009jfu.5 
ENSMUST00000005769.13 Tmod4 ENSMUST00000005769.13 tropomodulin 4 (from RefSeq NM_016712.4) ENSMUST00000005769.1 ENSMUST00000005769.10 ENSMUST00000005769.11 ENSMUST00000005769.12 ENSMUST00000005769.2 ENSMUST00000005769.3 ENSMUST00000005769.4 ENSMUST00000005769.5 ENSMUST00000005769.6 ENSMUST00000005769.7 ENSMUST00000005769.8 ENSMUST00000005769.9 NM_016712 Q9JLH8 TMOD4_MOUSE uc008qib.1 uc008qib.2 uc008qib.3 Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton (By similarity). Binds to the N-terminus of tropomyosin and to actin. Cytoplasm, cytoskeleton Note=In myofibrils with sarcomeric structure, localizes to the pointed end of actin thin filaments. Belongs to the tropomodulin family. actin binding tropomyosin binding cytoplasm cytoskeleton striated muscle thin filament muscle contraction myofibril myofibril assembly actin filament binding pointed-end actin filament capping uc008qib.1 uc008qib.2 uc008qib.3 
ENSMUST00000005791.14 Cabp5 ENSMUST00000005791.14 calcium binding protein 5, transcript variant 10 (from RefSeq NR_184751.1) CABP5_MOUSE ENSMUST00000005791.1 ENSMUST00000005791.10 ENSMUST00000005791.11 ENSMUST00000005791.12 ENSMUST00000005791.13 ENSMUST00000005791.2 ENSMUST00000005791.3 ENSMUST00000005791.4 ENSMUST00000005791.5 ENSMUST00000005791.6 ENSMUST00000005791.7 ENSMUST00000005791.8 ENSMUST00000005791.9 NR_184751 Q9JLK3 uc009ffv.1 uc009ffv.2 uc009ffv.3 Inhibits calcium-dependent inactivation of L-type calcium channel and shifts voltage dependence of activation to more depolarized membrane potentials (PubMed:18586882). Involved in the transmission of light signals (PubMed:18586882). May positively regulate neurotransmitter vesicle endocytosis and exocytosis in a salt-dependent manner (PubMed:22039235). May play a role in the extension and network organization of neurites (PubMed:22039235). Interacts with CACNA1C (via C-terminal CDB motif) in a calcium-dependent manner (PubMed:18586882). Interacts with STXBP1 (By similarity). Interacts with MYO6 (By similarity). Cytoplasm Expressed in inner and outer plexiform layers of the retina, and retinal bipolar cells (at protein level) (PubMed:17947313, PubMed:18586882, PubMed:22039235). Expressed in the inner hair cells (IHC) of the cochlea (PubMed:17947313, PubMed:18586882). No morphologic changes, but 50% reduction of the sensitivity of retinal ganglion cell light responses. calcium ion binding cytoplasm cytosol metal ion binding uc009ffv.1 uc009ffv.2 uc009ffv.3 
ENSMUST00000005798.9 Snx6 ENSMUST00000005798.9 sorting nexin 6, transcript variant 1 (from RefSeq NM_026998.4) ENSMUST00000005798.1 ENSMUST00000005798.2 ENSMUST00000005798.3 ENSMUST00000005798.4 ENSMUST00000005798.5 ENSMUST00000005798.6 ENSMUST00000005798.7 ENSMUST00000005798.8 NM_026998 Q6P8X1 Q9CZ03 SNX6_MOUSE uc007nnv.1 uc007nnv.2 uc007nnv.3 Involved in several stages of intracellular trafficking. Interacts with membranes phosphatidylinositol 3,4-bisphosphate and/or phosphatidylinositol 4,5-bisphosphate (Probable). Acts in part as component of the retromer membrane-deforming SNX-BAR subcomplex. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome- to-plasma membrane transport for cargo protein recycling. The SNX-BAR subcomplex functions to deform the donor membrane into a tubular profile called endosome-to-TGN transport carrier (ETC). Does not have in vitro vesicle-to-membrane remodeling activity (By similarity). Involved in retrograde endosome-to-TGN transport of lysosomal enzyme receptor IGF2R. May function as link between transport vesicles and dynactin. Negatively regulates retrograde transport of BACE1 from the cell surface to the trans-Golgi network. Involved in E-cadherin sorting and degradation; inhibits PIP5K1C-mediated E-cadherin degradation (By similarity). In association with GIT1 involved in EGFR degradation (PubMed:18523162). Promotes lysosomal degradation of CDKN1B (PubMed:20228253). May contribute to transcription regulation (By similarity). Forms heterodimers with BAR domain-containing sorting nexins SNX1 and SNX2. The heterodimers are proposed to self-assemble into helical arrays on the membrane to stabilize and expand local membrane curvature underlying endosomal tubule formation. Thought to be a component of the originally described retromer complex (also called SNX-BAR retromer) which is a pentamer containing the heterotrimeric retromer cargo-selective complex (CSC), also described as vacuolar protein sorting subcomplex (VPS), and a heterodimeric membrane- deforming subcomplex formed between SNX1 or SNX2 and SNX5 or SNX6 (also called SNX-BAR subcomplex); the respective CSC and SNX-BAR subcomplexes associate with low affinity (By similarity). Interacts with SNX1, SNX2, VPS26A, VPS29, VPS35, TGFB receptors, BACE1, BRMS1, PIP5K1C. Interacts with DCTN1; the association with DCTN1 is involved in movement of retromer-c ontaining vesicles toward the TGN. Interacts with PIM1; translocating SNX6 to the nucleus (By similarity). Interacts with CDKN1B and GIT1 (PubMed:18523162, PubMed:20228253). Early endosome membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasmic vesicle Cytoplasm Nucleus Note=Interaction with SNX1 or SNX2 promotes location at endosome membranes (By similarity). Only a minor proportion is seen in the nucleus (By similarity). The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3,4-bisphosphate and/or phosphatidylinositol 4,5- bisphosphate. The BAR domain is able to sense membrane curvature upon dimerization. Membrane remodeling seems to implicate insertion of an amphipathic helix (AH) in the membrane (By similarity). In vitro phosphorylated by PIM1; not affecting PIM1-dependent nuclear translocation (By similarity). Belongs to the sorting nexin family. nucleus cytoplasm endosome cytosol intracellular protein transport lipid binding protein transport membrane negative regulation of transforming growth factor beta receptor signaling pathway retromer complex cytoplasmic vesicle early endosome membrane dynactin binding type I transforming growth factor beta receptor binding phosphatidylinositol binding retrograde transport, endosome to Golgi protein homodimerization activity negative regulation of neuron apoptotic process negative regulation of transcription, DNA-templated cellular response to epidermal growth factor stimulus tubular endosome cellular response to beta-amyloid uc007nnv.1 uc007nnv.2 uc007nnv.3 
ENSMUST00000005810.9 Mthfd2 ENSMUST00000005810.9 methylenetetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase (from RefSeq NM_008638.2) ENSMUST00000005810.1 ENSMUST00000005810.2 ENSMUST00000005810.3 ENSMUST00000005810.4 ENSMUST00000005810.5 ENSMUST00000005810.6 ENSMUST00000005810.7 ENSMUST00000005810.8 MTDC_MOUSE NM_008638 Nmdmc P18155 Q3TMN4 uc009cne.1 uc009cne.2 uc009cne.3 uc009cne.4 Although its dehydrogenase activity is NAD-specific, it can also utilize NADP at a reduced efficiency. Reaction=(6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + NAD(+) = (6R)- 5,10-methenyltetrahydrofolate + NADH; Xref=Rhea:RHEA:22892, ChEBI:CHEBI:15636, ChEBI:CHEBI:57455, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.5.1.15; Evidence= Reaction=(6R)-5,10-methenyltetrahydrofolate + H2O = (6R)-10- formyltetrahydrofolate + H(+); Xref=Rhea:RHEA:23700, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57455, ChEBI:CHEBI:195366; EC=3.5.4.9; Evidence= Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Homodimer. Mitochondrion. This NAD-dependent bifunctional enzyme has very different kinetic properties than the larger NADP-dependent trifunctional enzyme and is unique in that it requires formation of an enzyme-magnesium complex to allow binding of NAD. Belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family. magnesium ion binding catalytic activity methenyltetrahydrofolate cyclohydrolase activity methylenetetrahydrofolate dehydrogenase (NAD+) activity methylenetetrahydrofolate dehydrogenase (NADP+) activity mitochondrion one-carbon metabolic process metabolic process oxidoreductase activity hydrolase activity tetrahydrofolate interconversion phosphate ion binding tetrahydrofolate metabolic process oxidation-reduction process uc009cne.1 uc009cne.2 uc009cne.3 uc009cne.4 
ENSMUST00000005815.7 Kit ENSMUST00000005815.7 KIT proto-oncogene receptor tyrosine kinase, transcript variant 1 (from RefSeq NM_001122733.1) ENSMUST00000005815.1 ENSMUST00000005815.2 ENSMUST00000005815.3 ENSMUST00000005815.4 ENSMUST00000005815.5 ENSMUST00000005815.6 KIT_MOUSE NM_001122733 P05532 Q61415 Q61416 Q61417 Q6LEE9 Q6QJB7 Q6QJB8 Q7TS86 Q8C8K9 Sl uc008xug.1 uc008xug.2 uc008xug.3 uc008xug.4 uc008xug.5 The c-Kit proto-oncogene is the cellular homolog of the transforming gene of a feline retrovirus (v-Kit). The c-kit protein includes characteristics of a protein kinase transmembrane receptor. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5- trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B. Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1. Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence= Present in an inactive conformation in the absence of bound ligand. KITLG/SCF binding leads to dimerization and activation by autophosphorylation. Monomer in the absence of bound KITLG/SCF. Homodimer in the presence of bound KITLG/SCF, forming a heterotetramer with two KITLG/SCF molecules. Interacts (via phosphorylated tyrosine residues) with the adapter proteins GRB2 and GRB7 (via SH2 domain), and SH2B2/APS. Interacts (via C-terminus) with MPDZ (via the tenth PDZ domain). Interacts (via phosphorylated tyrosine residues) with the protein phosphatases PTPN6/SHP-1 (via SH2 domain), PTPN11/SHP-2 (via SH2 domain) and PTPRU. Interacts with DOK1 and TEC (By similarity). Interacts with the protein kinase FES/FPS. Interacts with PLCG1. Interacts (via phosphorylated tyrosine residues) with PIK3R1 and PIK3 catalytic subunit. Interacts (KITLG/SCF-bound) with IL1RL1. Interacts with IL1RAP (independent of stimulation with KITLG/SCF). A mast cell- specific KITLG/SCF-induced interleukin-33 signaling complex contains IL1RL1, IL1RAP, KIT and MYD88. P05532; P26955: Csf2rb; NbExp=4; IntAct=EBI-8559255, EBI-1810026; [Isoform 1]: Cell membrane; Single-pass type I membrane protein. [Isoform 2]: Cell membrane; Single-pass type I membrane protein. [Isoform 3]: Cytoplasm. Note=Detected in the cytoplasm of spermatozoa, especially in the equatorial and subacrosomal region of the sperm head. Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=GNNK(+), KitA(+); IsoId=P05532-1; Sequence=Displayed; Name=2; Synonyms=GNNK(-), Kit(+); IsoId=P05532-2; Sequence=VSP_041870; Name=3; Synonyms=Tr-kit, Truncated; IsoId=P05532-3; Sequence=VSP_041868, VSP_041869; Isoform 1 and isoform 2 are detected in bone marrow cells, spermatogonia and spermatocytes, but not in round spermatids, elongating spermatids and spermatozoa. Isoform 3 is detected in round spermatids, elongating spermatids and spermatozoa, but not in spermatogonia and spermatocytes (at protein level). Isoform 1 is widely expressed and detected in fetal liver and bone marrow. Isoform 3 is detected in bone marrow cells enriched in hematopoietic stem cells. Ubiquitinated by SOCS6. KIT is rapidly ubiquitinated after autophosphorylation induced by KITLG/SCF binding, leading to internalization and degradation (By similarity). Autophosphorylated on tyrosine residues. KITLG/SCF binding promotes autophosphorylation of isoform 1 and isoform 2. Isoform 1 shows low levels of tyrosine phosphorylation in the absence of added KITLG/SCF, while isoform 2 requires stimulation by KITLG/SCF for phosphorylation (in vitro). Phosphorylation of Tyr-573 is required for interaction with PTPN6/SHP-1. Phosphorylation of Tyr-571 is required for interaction with PTPN11/SHP-2. Phosphorylated tyrosine residues are important for interaction with specific binding partners. Note=Defects in Kit are the cause of the white-spotting phenotype (W). White-spotting variants induces severe effects on pigmentation, gametogenesis and hematopoiesis. Mice homozygous for W42 die perinatally of macrocytic anemia. Numerous proteins are phosphorylated in response to KIT signaling, but it is not evident to determine which are directly phosphorylated by KIT under in vivo conditions. Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. nucleotide binding activation of MAPK activity ovarian follicle development acrosomal vesicle protease binding hematopoietic progenitor cell differentiation myeloid progenitor cell differentiation lymphoid progenitor cell differentiation immature B cell differentiation dendritic cell cytokine production mast cell chemotaxis myeloid leukocyte differentiation protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity stem cell factor receptor activity protein binding ATP binding extracellular space cytoplasm plasma membrane integral component of plasma membrane cell-cell junction protein phosphorylation glycosphingolipid metabolic process chemotaxis inflammatory response transmembrane receptor protein tyrosine kinase signaling pathway germ cell development spermatogenesis spermatid development positive regulation of cell proliferation germ cell migration regulation of cell shape visual learning male gonad development response to radiation external side of plasma membrane cytoplasmic side of plasma membrane cell surface positive regulation of gene expression membrane integral component of membrane kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation cytokine-mediated signaling pathway cytokine binding lamellipodium assembly hemopoiesis cell differentiation B cell differentiation T cell differentiation erythrocyte differentiation melanocyte differentiation positive regulation of cell migration positive regulation of pseudopodium assembly actin cytoskeleton reorganization mast cell cytokine production somatic stem cell population maintenance embryonic hemopoiesis ectopic germ cell programmed cell death intracellular signal transduction hematopoietic stem cell migration megakaryocyte development Fc receptor signaling pathway Kit signaling pathway erythropoietin-mediated signaling pathway SH2 domain binding positive regulation of tyrosine phosphorylation of STAT protein mast cell granule protein homodimerization activity negative regulation of programmed cell death receptor complex mast cell degranulation positive regulation of MAP kinase activity positive regulation of MAPK cascade pigmentation tongue development positive regulation of Notch signaling pathway positive regulation of JAK-STAT cascade response to cadmium ion protein autophosphorylation metal ion binding developmental pigmentation somatic stem cell division positive regulation of long-term neuronal synaptic plasticity digestive tract development stem cell differentiation epithelial cell proliferation detection of mechanical stimulus involved in sensory perception of sound positive regulation of sequence-specific DNA binding transcription factor activity cell chemotaxis mast cell differentiation cellular response to thyroid hormone stimulus melanocyte migration melanocyte adhesion regulation of bile acid metabolic process positive regulation of colon smooth muscle contraction positive regulation of small intestine smooth muscle contraction positive regulation of vascular smooth muscle cell differentiation uc008xug.1 uc008xug.2 uc008xug.3 uc008xug.4 uc008xug.5 
ENSMUST00000005817.9 Tomm40l ENSMUST00000005817.9 translocase of outer mitochondrial membrane 40-like, transcript variant 2 (from RefSeq NM_001412746.1) ENSMUST00000005817.1 ENSMUST00000005817.2 ENSMUST00000005817.3 ENSMUST00000005817.4 ENSMUST00000005817.5 ENSMUST00000005817.6 ENSMUST00000005817.7 ENSMUST00000005817.8 NM_001412746 Q9CZR3 TM40L_MOUSE Tomm40b uc057avx.1 uc057avx.2 uc057avx.3 Potential channel-forming protein implicated in import of protein precursors into mitochondria. Forms part of the preprotein translocase of the outer mitochondrial membrane (TOM complex) containing TOMM22, TOMM40, TOMM40L and TOMM70. Interacts with mitochondrial targeting sequences (By similarity). Mitochondrion outer membrane ; Multi-pass membrane protein Belongs to the Tom40 family. mitochondrion mitochondrial outer membrane mitochondrial outer membrane translocase complex ion transport protein transmembrane transporter activity protein transport porin activity membrane integral component of membrane protein import into mitochondrial matrix mitochondrion targeting sequence binding macromolecular complex pore complex transmembrane transport preprotein binding uc057avx.1 uc057avx.2 uc057avx.3 
ENSMUST00000005820.11 Nr1i3 ENSMUST00000005820.11 nuclear receptor subfamily 1, group I, member 3, transcript variant 1 (from RefSeq NM_009803.5) Car ENSMUST00000005820.1 ENSMUST00000005820.10 ENSMUST00000005820.2 ENSMUST00000005820.3 ENSMUST00000005820.4 ENSMUST00000005820.5 ENSMUST00000005820.6 ENSMUST00000005820.7 ENSMUST00000005820.8 ENSMUST00000005820.9 NM_009803 NR1I3_MOUSE O35627 O35628 Q3V008 uc007dnf.1 uc007dnf.2 uc007dnf.3 Binds and transactivates the retinoic acid response elements that control expression of the retinoic acid receptor beta 2 and alcohol dehydrogenase 3 genes. Transactivates both the phenobarbital responsive element module of the human CYP2B6 gene and the CYP3A4 xenobiotic response element (By similarity). Heterodimer of NR1I3 and RXR. Interacts with PSMC4. Interacts with ECT2. Directly interacts with DNAJC7; this complex may also include HSP90. Interacts with CRY1 (PubMed:28751364). Interacts with CRY2 in a ligand-dependent manner (PubMed:28751364). Nucleus. Cytoplasm. Cytoplasm, cytoskeleton Note=Recruited to the cytoplasm by DNAJC7. Event=Alternative splicing; Named isoforms=2; Name=CAR1; IsoId=O35627-1; Sequence=Displayed; Name=CAR2; IsoId=O35627-2; Sequence=VSP_003671, VSP_003672; Predominantly expressed in liver. Composed by a short N-terminal domain followed by the DNA binding, hinge, and ligand binding/dimerization domains. Phosphorylated at Thr-48 by PKC, dephosphorylation of Thr-48 is required for nuclear translocation and activation. [Isoform CAR2]: Does not seem to act as a transactivator. Lacks the C-terminal portion of the ligand binding/dimerization domain. Belongs to the nuclear hormone receptor family. NR1 subfamily. negative regulation of transcription from RNA polymerase II promoter transcription regulatory region sequence-specific DNA binding RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm cytosol cytoskeleton regulation of transcription, DNA-templated lipid metabolic process multicellular organism development transcription factor binding zinc ion binding cell differentiation ligand-dependent nuclear receptor transcription coactivator activity intracellular receptor signaling pathway signaling receptor activity cholesterol homeostasis steroid hormone mediated signaling pathway sequence-specific DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding lipid homeostasis cellular response to lipopolysaccharide RNA polymerase II transcription factor complex uc007dnf.1 uc007dnf.2 uc007dnf.3 
ENSMUST00000005826.9 Cs ENSMUST00000005826.9 citrate synthase (from RefSeq NM_026444.4) CISY_MOUSE ENSMUST00000005826.1 ENSMUST00000005826.2 ENSMUST00000005826.3 ENSMUST00000005826.4 ENSMUST00000005826.5 ENSMUST00000005826.6 ENSMUST00000005826.7 ENSMUST00000005826.8 NM_026444 Q3UDP3 Q9CZU6 uc007hmj.1 uc007hmj.2 uc007hmj.3 The protein encoded by this gene is a central metabolic pathway enzyme, catalyzing the first step of the tricarboxylic acid cycle in which acetyl coenzyme A and oxaloacetate are converted to citrate and coenzyme A. This enzyme is found in nearly all cells capable of oxidative metabolism. This protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. [provided by RefSeq, Jul 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK149990.1, SRR1660817.294434.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Reaction=acetyl-CoA + H2O + oxaloacetate = citrate + CoA + H(+); Xref=Rhea:RHEA:16845, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16452, ChEBI:CHEBI:16947, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=2.3.3.1; Evidence= Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 1/2. Homodimer. Mitochondrion matrix Methylated. Trimethylation at Lys-395 by CSKMT decreases citrate synthase activity. Citrate synthase is found in nearly all cells capable of oxidative metabolism. Belongs to the citrate synthase family. citrate (Si)-synthase activity mitochondrion mitochondrial matrix carbohydrate metabolic process acetyl-CoA metabolic process tricarboxylic acid cycle citrate metabolic process oxaloacetate metabolic process transferase activity transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer uc007hmj.1 uc007hmj.2 uc007hmj.3 
ENSMUST00000005830.15 Bcas2 ENSMUST00000005830.15 BCAS2 pre-mRNA processing factor, transcript variant 1 (from RefSeq NM_026602.4) Dam1 ENSMUST00000005830.1 ENSMUST00000005830.10 ENSMUST00000005830.11 ENSMUST00000005830.12 ENSMUST00000005830.13 ENSMUST00000005830.14 ENSMUST00000005830.2 ENSMUST00000005830.3 ENSMUST00000005830.4 ENSMUST00000005830.5 ENSMUST00000005830.6 ENSMUST00000005830.7 ENSMUST00000005830.8 ENSMUST00000005830.9 NM_026602 Q3TKJ5 Q91YX8 Q9D287 Q9D2U4 Q9DAI0 SPF27_MOUSE uc008qsu.1 uc008qsu.2 uc008qsu.3 uc008qsu.4 Required for pre-mRNA splicing as component of the activated spliceosome. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre- mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. The PRP19- CDC5L complex may also play a role in the response to DNA damage (DDR). Component of the pre-catalytic and catalytic spliceosome complexes. Component of the postcatalytic spliceosome P complex. Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. Interacts directly in the complex with PRPF19, CDC5L and PLRG1. Nucleus Nucleus, nucleolus Belongs to the SPF27 family. mRNA splicing, via spliceosome Prp19 complex molecular_function nucleus DNA replication factor A complex spliceosomal complex nucleolus centrosome mRNA processing RNA splicing nuclear speck U2-type catalytic step 2 spliceosome uc008qsu.1 uc008qsu.2 uc008qsu.3 uc008qsu.4 
ENSMUST00000005841.16 Ctcf ENSMUST00000005841.16 CCCTC-binding factor, transcript variant 1 (from RefSeq NM_181322.4) CTCF_MOUSE ENSMUST00000005841.1 ENSMUST00000005841.10 ENSMUST00000005841.11 ENSMUST00000005841.12 ENSMUST00000005841.13 ENSMUST00000005841.14 ENSMUST00000005841.15 ENSMUST00000005841.2 ENSMUST00000005841.3 ENSMUST00000005841.4 ENSMUST00000005841.5 ENSMUST00000005841.6 ENSMUST00000005841.7 ENSMUST00000005841.8 ENSMUST00000005841.9 NM_181322 Q61164 uc009ndm.1 uc009ndm.2 uc009ndm.3 uc009ndm.4 Chromatin binding factor that binds to DNA sequence specific sites. Involved in transcriptional regulation by binding to chromatin insulators and preventing interaction between promoter and nearby enhancers and silencers. Acts as a transcriptional repressor binding to promoters of vertebrate MYC gene and BAG1 gene. Also binds to the PLK and PIM1 promoters. Acts as a transcriptional activator of APP. Regulates APOA1/C3/A4/A5 gene cluster and controls MHC class II gene expression. Plays an essential role in oocyte and preimplantation embryo development by activating or repressing transcription. Seems to act as tumor suppressor. Plays a critical role in the epigenetic regulation. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, binding within the H19 imprinting control region (ICR) mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to IGF2. Plays a critical role in gene silencing over considerable distances in the genome. Preferentially interacts with unmethylated DNA, preventing spreading of CpG methylation and maintaining methylation-free zones. Inversely, binding to target sites is prevented by CpG methylation. Plays an important role in chromatin remodeling. Can dimerize when it is bound to different DNA sequences, mediating long-range chromatin looping (By similarity). Mediates interchromosomal association between IGF2/H19 and WSB1/NF1 and may direct distant DNA segments to a common transcription factory. Causes local loss of histone acetylation and gain of histone methylation in the beta-globin locus, without affecting transcription. When bound to chromatin, it provides an anchor point for nucleosomes positioning. Seems to be essential for homologous X-chromosome pairing. May participate with Tsix in establishing a regulatable epigenetic switch for X chromosome inactivation. May play a role in preventing the propagation of stable methylation at the escape genes from X-inactivation. Involved in sister chromatid cohesion. Associates with both centromeres and chromosomal arms during metaphase and required for cohesin localization to CTCF sites. Regulates asynchronous replication of IGF2/H19. Plays a role in the recruitment of CENPE to the pericentromeric/centromeric regions of the chromosome during mitosis (By similarity). Interacts with CHD8 (PubMed:16949368). Interacts with LLPH (PubMed:26961175). Interacts with CENPE (By similarity). Q61164; Q09XV5: Chd8; NbExp=3; IntAct=EBI-932785, EBI-1169080; Nucleus, nucleoplasm Chromosome Chromosome, centromere Note=May translocate to the nucleolus upon cell differentiation. Associates with both centromeres and chromosomal arms during metaphase. Associates with the H19 ICR in mitotic chromosomes. May be preferentially excluded from heterochromatin during interphase. Sumoylated on Lys-74 and Lys-698; sumoylation of CTCF contributes to the repressive function of CTCF on the MYC P2 promoter. Belongs to the CTCF zinc-finger protein family. negative regulation of transcription from RNA polymerase II promoter chromosome, centromeric region condensed chromosome RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm chromosome nucleolus DNA methylation chromatin organization regulation of gene expression by genetic imprinting regulation of transcription, DNA-templated chromosome segregation negative regulation of cell proliferation dosage compensation by inactivation of X chromosome maintenance of DNA methylation positive regulation of gene expression negative regulation of gene expression nucleosome positioning regulation of histone methylation regulation of histone acetylation regulation of gene expression, epigenetic regulation of molecular function, epigenetic chromatin insulator sequence binding sequence-specific DNA binding transcription regulatory region DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated metal ion binding protein localization to chromosome, centromeric region positive regulation of pri-miRNA transcription from RNA polymerase II promoter uc009ndm.1 uc009ndm.2 uc009ndm.3 uc009ndm.4 
ENSMUST00000005862.9 Tfap4 ENSMUST00000005862.9 transcription factor AP4, transcript variant 1 (from RefSeq NM_031182.3) Ap4 ENSMUST00000005862.1 ENSMUST00000005862.2 ENSMUST00000005862.3 ENSMUST00000005862.4 ENSMUST00000005862.5 ENSMUST00000005862.6 ENSMUST00000005862.7 ENSMUST00000005862.8 NM_031182 Q9JIZ5 Q9JIZ5_MOUSE Tcfap4 Tfap4 uc007xzv.1 uc007xzv.2 uc007xzv.3 Q9JIZ5; O88513: Gmnn; NbExp=2; IntAct=EBI-15597718, EBI-445922; Q9JIZ5; Q03347: Runx1; NbExp=2; IntAct=EBI-15597718, EBI-3863873; RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus mitochondrion regulation of transcription from RNA polymerase II promoter DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator negative regulation of cell proliferation negative regulation of gene expression transcriptional repressor complex protein homodimerization activity histone deacetylase binding positive regulation of apoptotic process negative regulation of DNA binding sequence-specific DNA binding negative regulation by host of viral transcription positive regulation by host of viral transcription transcription regulatory region DNA binding mitotic cell cycle phase transition negative regulation of cyclin-dependent protein serine/threonine kinase activity negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein dimerization activity macromolecular complex assembly E-box binding negative regulation of cell cycle arrest cellular response to dexamethasone stimulus regulation of mitotic cell cycle phase transition positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway uc007xzv.1 uc007xzv.2 uc007xzv.3 
ENSMUST00000005889.16 Vav1 ENSMUST00000005889.16 vav 1 oncogene, transcript variant 1 (from RefSeq NM_011691.4) ENSMUST00000005889.1 ENSMUST00000005889.10 ENSMUST00000005889.11 ENSMUST00000005889.12 ENSMUST00000005889.13 ENSMUST00000005889.14 ENSMUST00000005889.15 ENSMUST00000005889.2 ENSMUST00000005889.3 ENSMUST00000005889.4 ENSMUST00000005889.5 ENSMUST00000005889.6 ENSMUST00000005889.7 ENSMUST00000005889.8 ENSMUST00000005889.9 NM_011691 Q3U9E2 Q3U9E2_MOUSE Vav Vav1 uc008dep.1 uc008dep.2 uc008dep.3 uc008dep.4 phosphotyrosine binding guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity small GTPase mediated signal transduction regulation of cell size regulation of Rho protein signal transduction intracellular signal transduction regulation of GTPase activity metal ion binding uc008dep.1 uc008dep.2 uc008dep.3 uc008dep.4 
ENSMUST00000005891.7 Klk9 ENSMUST00000005891.7 kallikrein related-peptidase 9 (from RefSeq NM_028660.3) ENSMUST00000005891.1 ENSMUST00000005891.2 ENSMUST00000005891.3 ENSMUST00000005891.4 ENSMUST00000005891.5 ENSMUST00000005891.6 Klk9 Klnf NM_028660 Q32M27 Q32M27_MOUSE uc009gnr.1 uc009gnr.2 uc009gnr.3 uc009gnr.4 molecular_function serine-type endopeptidase activity proteolysis biological_process peptidase activity serine-type peptidase activity hydrolase activity secretory granule uc009gnr.1 uc009gnr.2 uc009gnr.3 uc009gnr.4 
ENSMUST00000005907.12 Cd247 ENSMUST00000005907.12 CD247 antigen, transcript variant zeta (from RefSeq NM_001113391.2) CD3Z_MOUSE Cd3z ENSMUST00000005907.1 ENSMUST00000005907.10 ENSMUST00000005907.11 ENSMUST00000005907.2 ENSMUST00000005907.3 ENSMUST00000005907.4 ENSMUST00000005907.5 ENSMUST00000005907.6 ENSMUST00000005907.7 ENSMUST00000005907.8 ENSMUST00000005907.9 NM_001113391 P24161 P29020 Q9D3G3 Tcrz uc007djn.1 uc007djn.2 uc007djn.3 uc007djn.4 Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR- mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways. CD3Z ITAMs phosphorylation creates multiple docking sites for the protein kinase ZAP70 leading to ZAP70 phosphorylation and its conversion into a catalytically active enzyme. Plays an important role in intrathymic T-cell differentiation. Additionally, participates in the activity-dependent synapse formation of retinal ganglion cells (RGCs) in both the retina and dorsal lateral geniculate nucleus (dLGN). The TCR-CD3 complex is composed of a CD3D/CD3E and a CD3G/CD3E heterodimers that preferentially associate with TCRalpha and TCRbeta, respectively, to form TCRalpha/CD3E/CD3G and TCRbeta/CD3G/CD3E trimers. In turn, the hexamer interacts with CD3Z homodimer to form the TCR-CD3 complex. Alternatively, TCRalpha and TCRbeta can be replaced by TCRgamma and TCRdelta. Interacts with SLA (PubMed:10662792). Interacts with SLA2 (PubMed:11891219). Interacts with TRAT1. Interacts with DOCK2. Interacts with SHB. Interacts with ZAP70. Interacts (tyrosine phosphorylated) with SHC1 (via SH2 domain). Interacts with PTPRC (By similarity). Interacts with CRK; this interaction regulates CD3Z phosphorylation (By similarity). Interacts (on T cell side) with CD81, ICAM1 and CD9 at immunological synapses between antigen-presenting cells and T cells. Interacts with CD160. Interacts with LY6E. Interacts with LY6E (By similarity). The signaling subunit of immunoglobulin gamma (IgG) Fc receptor complex. As a homodimer or a heterodimer with FCER1G, associates with the ligand binding subunit FCGR3A (via transmembrane domain); this interaction is a prerequisite for Fc receptor complex expression on the cell surface. P24161; Q9WU22: Ptpn4; NbExp=3; IntAct=EBI-7803400, EBI-7249866; P24161; P43404: Zap70; NbExp=4; IntAct=EBI-7803400, EBI-3862932; Cell membrane ; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=CD-3-zeta; IsoId=P24161-1; Sequence=Displayed; Name=CD-3-eta; IsoId=P24161-2; Sequence=VSP_058346; CD3Z is expressed in normal lymphoid tissue and in peripheral blood mononuclear cells (PBMCs). Expressed also in retinal ganglion cells (PubMed:20188655). The ITAM domains mediate interaction with SHB. Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8. CD3Z deletion causes severely defective thymocyte differentiation (PubMed:8223495). Absence of CD3Z also leads to altered dendritic structure and motility in developing retina (PubMed:20188655). Belongs to the CD3Z/FCER1G family. adaptive immune response immune system process transmembrane signaling receptor activity protein binding cytoplasm plasma membrane cell surface receptor signaling pathway membrane integral component of membrane interleukin-2 production T cell receptor complex alpha-beta T cell receptor complex identical protein binding protein homodimerization activity T cell receptor signaling pathway protein homotetramerization protein homotrimerization protein tyrosine kinase binding positive regulation of protein localization to cell surface uc007djn.1 uc007djn.2 uc007djn.3 uc007djn.4 
ENSMUST00000005923.7 Psmb4 ENSMUST00000005923.7 proteasome (prosome, macropain) subunit, beta type 4 (from RefSeq NM_008945.3) ENSMUST00000005923.1 ENSMUST00000005923.2 ENSMUST00000005923.3 ENSMUST00000005923.4 ENSMUST00000005923.5 ENSMUST00000005923.6 Lmp3 NM_008945 P99026 PSB4_MOUSE Q3THC0 Q3THI3 Q3U0S0 Q3UVQ4 Q62008 Q8BK27 Q91VV7 uc008qhe.1 uc008qhe.2 uc008qhe.3 uc008qhe.4 Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP-dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin-independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor SNIP1. The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is a barrel-shaped complex made of 28 subunits that are arranged in four stacked rings. The two outer rings are each formed by seven alpha subunits, and the two inner rings are formed by seven beta subunits. The proteolytic activity is exerted by three beta-subunits PSMB5, PSMB6 and PSMB7 (PubMed:16857966, PubMed:22341445). Forms a ternary complex with SMAD1 and OAZ1 before PSMB4 is incorporated into the 20S proteasome (By similarity). Interacts with PRPF19 (By similarity). Cytoplasm Nucleus Note=Translocated from the cytoplasm into the nucleus following interaction with AKIRIN2, which bridges the proteasome with the nuclear import receptor IPO9. Detected in liver (at protein level). Up-regulated in liver tumor tissues (at protein level). Belongs to the peptidase T1B family. proteasome complex lipopolysaccharide binding negative regulation of inflammatory response to antigenic stimulus endopeptidase activity threonine-type endopeptidase activity nucleus nucleoplasm cytoplasm cytosol proteasome core complex proteolysis peptidase activity proteasomal protein catabolic process proteasomal ubiquitin-independent protein catabolic process hydrolase activity proteasome core complex, beta-subunit complex proteasome-mediated ubiquitin-dependent protein catabolic process proteolysis involved in cellular protein catabolic process uc008qhe.1 uc008qhe.2 uc008qhe.3 uc008qhe.4 
ENSMUST00000005933.4 Klk1b16 ENSMUST00000005933.4 kallikrein 1-related peptidase b16 (from RefSeq NM_008454.3) ENSMUST00000005933.1 ENSMUST00000005933.2 ENSMUST00000005933.3 K1B16_MOUSE Klk-16 Klk16 NM_008454 P04071 uc009goj.1 uc009goj.2 uc009goj.3 uc009goj.4 This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: BG865287.1, J03877.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849383, SAMN00849384 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Reaction=Cleavage of the Leu-|-Leu bond in synthetic tetradecapeptide renin substrate, to produce angiotensin I, but not active on natural angiotensinogen. Also hydrolyzes Bz-Arg-p-nitroanilide.; EC=3.4.21.54; Belongs to the peptidase S1 family. Kallikrein subfamily. regulation of systemic arterial blood pressure endopeptidase activity serine-type endopeptidase activity extracellular space proteolysis peptidase activity serine-type peptidase activity hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides secretory granule zymogen activation macromolecular complex uc009goj.1 uc009goj.2 uc009goj.3 uc009goj.4 
ENSMUST00000005950.12 Mmp12 ENSMUST00000005950.12 matrix metallopeptidase 12, transcript variant 1 (from RefSeq NM_008605.3) ENSMUST00000005950.1 ENSMUST00000005950.10 ENSMUST00000005950.11 ENSMUST00000005950.2 ENSMUST00000005950.3 ENSMUST00000005950.4 ENSMUST00000005950.5 ENSMUST00000005950.6 ENSMUST00000005950.7 ENSMUST00000005950.8 ENSMUST00000005950.9 MMP12_MOUSE Mme Mmel NM_008605 P34960 Q3TB28 Q3TBV6 Q3TBV9 Q3TD61 Q3U1S8 Q3U1S9 Q3U2R8 Q3UBC5 Q4FJM7 Q8BJ92 Q8BJB3 Q8BJB6 Q8BJB8 Q8BJB9 Q8VED6 uc009oci.1 uc009oci.2 This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Mice lacking the encoded protein have a diminished capacity to degrade extracellular matrix components, do not develop emphysema in response to long-term exposure to cigarette smoke, and exhibit impaired clearance and increased mortality upon bacterial infection. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. Alternate splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016]. May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3 (By similarity). Reaction=Hydrolysis of soluble and insoluble elastin. Specific cleavages are also produced at 14-Ala-|-Leu-15 and 16-Tyr-|-Leu-17 in the B chain of insulin.; EC=3.4.24.65; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Note=Binds 4 Ca(2+) ions per subunit. ; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) ions per subunit. ; Secreted, extracellular space, extracellular matrix The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation- peptide release activates the enzyme. Belongs to the peptidase M10A family. Sequence=AAA39526.1; Type=Erroneous initiation; Evidence=; Sequence=BAC40889.1; Type=Erroneous initiation; Evidence=; negative regulation of transcription from RNA polymerase II promoter core promoter binding metalloendopeptidase activity calcium ion binding collagen binding extracellular region extracellular space nucleus cytoplasm proteolysis protein import into nucleus peptidase activity metallopeptidase activity zinc ion binding positive regulation of gene expression hydrolase activity extracellular matrix organization collagen catabolic process extracellular matrix wound healing, spreading of epidermal cells wound healing sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter metal ion binding regulation of defense response to virus by host positive regulation of epithelial cell proliferation involved in wound healing elastin catabolic process negative regulation of type I interferon-mediated signaling pathway positive regulation of type I interferon-mediated signaling pathway cellular response to virus regulation of trophoblast cell migration positive regulation of interferon-alpha secretion negative regulation of endothelial cell-matrix adhesion via fibronectin uc009oci.1 uc009oci.2 
ENSMUST00000005952.11 Slc30a4 ENSMUST00000005952.11 solute carrier family 30 (zinc transporter), member 4, transcript variant 1 (from RefSeq NM_011774.3) ENSMUST00000005952.1 ENSMUST00000005952.10 ENSMUST00000005952.2 ENSMUST00000005952.3 ENSMUST00000005952.4 ENSMUST00000005952.5 ENSMUST00000005952.6 ENSMUST00000005952.7 ENSMUST00000005952.8 ENSMUST00000005952.9 Lm NM_011774 O35149 O35154 Q3UYZ9 Slc30a4 ZNT4_MOUSE Znt4 uc008mba.1 uc008mba.2 uc008mba.3 uc008mba.4 Probable proton-coupled zinc ion antiporter mediating zinc import from cytoplasm potentially into the endocytic compartment (PubMed:9354792). Controls zinc deposition in milk (PubMed:9354792). Reaction=2 H(+)(out) + Zn(2+)(in) = 2 H(+)(in) + Zn(2+)(out); Xref=Rhea:RHEA:72627, ChEBI:CHEBI:15378, ChEBI:CHEBI:29105; Evidence=; Homodimerization could regulate efficiency for zinc transport. Interacts with TMEM163 (By similarity). Endosome membrane ; Multi-pass membrane protein Late endosome membrane ; Multi-pass membrane protein Lysosome membrane ; Multi- pass membrane protein Note=Enriched in vesicles within the basal region of epithelial cells. Widely expressed. Highly expressed in the brain and in mammary epithelial cell lines. Note=Defect in Slc30a4 is the cause of the lethal milk (lm) phenotype. Mice with lm are defective in zinc transport into breast milk, due to a premature translation termination codon at position 297. Only homozygous mutant adults develop dermatitis, skin lesions, and hair loss due to a systemic zinc deficiency. Pups of any genotype suckled on homozygous mutant female also develop symptoms characteristic of nutritional zinc deficiency, including dermatitis, alopecia and stunted growth. Belongs to the cation diffusion facilitator (CDF) transporter (TC 2.A.4) family. SLC30A subfamily. zinc ion transmembrane transporter activity cytoplasm lysosome lysosomal membrane endosome late endosome plasma membrane ion transport cation transport zinc II ion transport cation transmembrane transporter activity response to toxic substance endosome membrane response to zinc ion membrane integral component of membrane cytoplasmic vesicle late endosome membrane zinc ion homeostasis transmembrane transport regulation of sequestering of zinc ion zinc II ion transmembrane transport uc008mba.1 uc008mba.2 uc008mba.3 uc008mba.4 
ENSMUST00000005953.11 Sqor ENSMUST00000005953.11 sulfide quinone oxidoreductase, transcript variant 2 (from RefSeq NM_001162503.1) ENSMUST00000005953.1 ENSMUST00000005953.10 ENSMUST00000005953.2 ENSMUST00000005953.3 ENSMUST00000005953.4 ENSMUST00000005953.5 ENSMUST00000005953.6 ENSMUST00000005953.7 ENSMUST00000005953.8 ENSMUST00000005953.9 NM_001162503 Q8BW20 Q91XA1 Q9D891 Q9R112 SQOR_MOUSE Sqor Sqrdl uc008mbh.1 uc008mbh.2 uc008mbh.3 uc008mbh.4 uc008mbh.5 Catalyzes the oxidation of hydrogen sulfide with the help of a quinone, such as ubiquinone-10, giving rise to thiosulfate and ultimately to sulfane (molecular sulfur) atoms. Requires an additional electron acceptor; can use sulfite, sulfide or cyanide (in vitro). It is believed the in vivo electron acceptor is glutathione. Reaction=2 H(+) + hydrogen sulfide + sulfite + ubiquinone-10 = thiosulfate + ubiquinol-10; Xref=Rhea:RHEA:38359, ChEBI:CHEBI:15378, ChEBI:CHEBI:17359, ChEBI:CHEBI:29919, ChEBI:CHEBI:33542, ChEBI:CHEBI:46245, ChEBI:CHEBI:64183; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38360; Evidence=; Reaction=a quinone + glutathione + H(+) + hydrogen sulfide = a quinol + S-sulfanylglutathione; Xref=Rhea:RHEA:55156, ChEBI:CHEBI:15378, ChEBI:CHEBI:24646, ChEBI:CHEBI:29919, ChEBI:CHEBI:57925, ChEBI:CHEBI:58905, ChEBI:CHEBI:132124; EC=1.8.5.8; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55157; Evidence=; Reaction=glutathione + H(+) + hydrogen sulfide + ubiquinone-10 = S- sulfanylglutathione + ubiquinol-10; Xref=Rhea:RHEA:62608, ChEBI:CHEBI:15378, ChEBI:CHEBI:29919, ChEBI:CHEBI:46245, ChEBI:CHEBI:57925, ChEBI:CHEBI:58905, ChEBI:CHEBI:64183; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:62609; Evidence=; Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Note=Binds 1 FAD per subunit. ; Mitochondrion Belongs to the SQRD family. mitochondrion mitochondrial inner membrane oxidoreductase activity quinone binding oxidation-reduction process sulfide oxidation, using sulfide:quinone oxidoreductase sulfide:quinone oxidoreductase activity hydrogen sulfide metabolic process FAD binding uc008mbh.1 uc008mbh.2 uc008mbh.3 uc008mbh.4 uc008mbh.5 
ENSMUST00000005954.9 Bloc1s6 ENSMUST00000005954.9 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin (from RefSeq NM_019788.3) A2ATW6 BL1S6_MOUSE ENSMUST00000005954.1 ENSMUST00000005954.2 ENSMUST00000005954.3 ENSMUST00000005954.4 ENSMUST00000005954.5 ENSMUST00000005954.6 ENSMUST00000005954.7 ENSMUST00000005954.8 NM_019788 P2 Pa Pldn Q3TUT4 Q91VG4 Q9R0C0 uc008mbf.1 uc008mbf.2 uc008mbf.3 Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Interacts with SNAP47 (By similarity). Homodimer. Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Interacts with BLOC1S4, BLOC1S5, DTNBP1/BLOC1S7, F- actin, SNAP25 isoform 1 and STX12. Cytoplasm Membrane ; Peripheral membrane protein Note=It can exist as a soluble protein as well as a peripheral membrane protein. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9R0C0-1; Sequence=Displayed; Name=2; IsoId=Q9R0C0-2; Sequence=VSP_009295, VSP_009296; Name=3; IsoId=Q9R0C0-3; Sequence=Not described; Expressed in liver, kidney and spleen (at protein level). Ubiquitously expressed, with the highest expression levels observed in brain, heart, liver and kidney. Phosphorylated. Note=Defects in Pldn are the cause of the pallid (pa) phenotype that is characterized by an altered formation or function of intracellular storage granules in melanocytes, platelets, and lysosomes in kidney. Pallid mice have a prolonged bleeding time owing to the inability of immature platelet dense granules to accumulate normal amounts of ATP, ADP, and serotonin. Pa animals also suffer from pigment dilution, kidney lysosomal enzyme elevation and serum alpha1- antitrypsin activity deficiency. Finally, pallid mice exhibit defects in otolith formation that lead to balance abnormalities. [Isoform 2]: May be due to a competing acceptor splice site. [Isoform 3]: May be due to exon 2 skipping. Belongs to the BLOC1S6 family. protein binding cytoplasm endosome vesicle docking involved in exocytosis vesicle fusion blood coagulation anterograde axonal transport membrane extrinsic component of membrane transport vesicle melanocyte differentiation BLOC-1 complex neuron projection development melanosome transport positive regulation of natural killer cell activation secretion of lysosomal enzymes endosome to melanosome transport identical protein binding protein homodimerization activity pigmentation anterograde synaptic vesicle transport positive regulation of pigment cell differentiation actin filament binding membrane fusion axon cytoplasm SNARE complex uc008mbf.1 uc008mbf.2 uc008mbf.3 
ENSMUST00000005964.7 Adh5 ENSMUST00000005964.7 alcohol dehydrogenase 5 (class III), chi polypeptide, transcript variant 1 (from RefSeq NM_007410.3) Adh5 ENSMUST00000005964.1 ENSMUST00000005964.2 ENSMUST00000005964.3 ENSMUST00000005964.4 ENSMUST00000005964.5 ENSMUST00000005964.6 NM_007410 Q6P5I3 Q6P5I3_MOUSE uc008rnk.1 uc008rnk.2 uc008rnk.3 Reaction=20-hydroxy-(5Z,8Z,11Z,14Z)-eicosatetraenoate + NAD(+) = 20- oxo-(5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+) + NADH; Xref=Rhea:RHEA:39799, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:76624, ChEBI:CHEBI:76645; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39800; Evidence=; Reaction=20-oxo-(5Z,8Z,11Z,14Z)-eicosatetraenoate + H2O + NAD(+) = (5Z,8Z,11Z,14Z)-eicosatetraenedioate + 2 H(+) + NADH; Xref=Rhea:RHEA:39803, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:76645, ChEBI:CHEBI:76647; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39804; Evidence=; Reaction=NAD(+) + S-(hydroxymethyl)glutathione = H(+) + NADH + S- formylglutathione; Xref=Rhea:RHEA:19985, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57688, ChEBI:CHEBI:57945, ChEBI:CHEBI:58758; EC=1.1.1.284; Evidence= Reaction=NADP(+) + S-(hydroxymethyl)glutathione = H(+) + NADPH + S- formylglutathione; Xref=Rhea:RHEA:19981, ChEBI:CHEBI:15378, ChEBI:CHEBI:57688, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:58758; EC=1.1.1.284; Evidence=; Reaction=a primary alcohol + NAD(+) = an aldehyde + H(+) + NADH; Xref=Rhea:RHEA:10736, ChEBI:CHEBI:15378, ChEBI:CHEBI:15734, ChEBI:CHEBI:17478, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.1; Evidence=; Reaction=a secondary alcohol + NAD(+) = a ketone + H(+) + NADH; Xref=Rhea:RHEA:10740, ChEBI:CHEBI:15378, ChEBI:CHEBI:17087, ChEBI:CHEBI:35681, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.1; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence= Homodimer. Belongs to the zinc-containing alcohol dehydrogenase family. Class-III subfamily. fatty acid binding ethanol oxidation zinc ion binding fatty acid omega-oxidation oxidoreductase activity formaldehyde dehydrogenase activity metal ion binding response to redox state S-(hydroxymethyl)glutathione dehydrogenase activity oxidation-reduction process uc008rnk.1 uc008rnk.2 uc008rnk.3 
ENSMUST00000005975.8 Gpr108 ENSMUST00000005975.8 G protein-coupled receptor 108, transcript variant 4 (from RefSeq NM_001308074.1) ENSMUST00000005975.1 ENSMUST00000005975.2 ENSMUST00000005975.3 ENSMUST00000005975.4 ENSMUST00000005975.5 ENSMUST00000005975.6 ENSMUST00000005975.7 GP108_MOUSE Lustr2 NM_001308074 Q8BXE9 Q91WD0 Q925B1 uc008dei.1 uc008dei.2 uc008dei.3 uc008dei.4 uc008dei.5 May play a role in intracellular immune modulation by activating NF-kappaB response and attenuating Toll-like-receptor response. (Microbial infection) Plays an essential function in adeno- associated virus (AAV) transduction, across multiple serotypes except AAV5. May play a critical role in mediating the endosomal virus escape or in the AAV virions trafficking from endosomes to the nucleus. Golgi apparatus, cis-Golgi network membrane ; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network membrane ; Multi-pass membrane protein Golgi apparatus membrane; Multi-pass membrane protein Note=Colocalizes with TLR3, -7, -4, and -9. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q91WD0-1; Sequence=Displayed; Name=2; IsoId=Q91WD0-2; Sequence=VSP_016607; High expression in spleen, lung, stomach, large and small intestine, and thymus. (Microbial infection) N- and C-terminal domains are essential for mediating AAV transduction. Deficient mice are viable and fertile and exhibit normal Mendelian segregation, however deficient mice exhibit increased LPS-induced mortality. TLR-mediated pro-inflammatory signaling are increased in embryonic fibroblasts and macrophages from Gpr108 deficient mice (PubMed:30332431). Depending on the AAV serotype used, 10-fold to 100-fold reduced expression for AAV is observed in Gpr108 knockout mice following retro-orbital administration (PubMed:31784416). Belongs to the LU7TM family. molecular_function cellular_component biological_process membrane integral component of membrane uc008dei.1 uc008dei.2 uc008dei.3 uc008dei.4 uc008dei.5 
ENSMUST00000005976.8 Tnfsf14 ENSMUST00000005976.8 tumor necrosis factor (ligand) superfamily, member 14 (from RefSeq NM_019418.4) ENSMUST00000005976.1 ENSMUST00000005976.2 ENSMUST00000005976.3 ENSMUST00000005976.4 ENSMUST00000005976.5 ENSMUST00000005976.6 ENSMUST00000005976.7 Light NM_019418 Q059Y9 Q9QYH9 TNF14_MOUSE uc008def.1 uc008def.2 uc008def.3 uc008def.4 Cytokine that binds to TNFRSF3/LTBR. Binding to the decoy receptor TNFRSF6B modulates its effects. Activates NFKB and stimulates the proliferation of T-cells. Acts as a ligand for TNFRSF14/HVEM. Upon binding to TNFRSF14/HVEM, delivers costimulatory signals to T cells, leading to T cell proliferation and IFNG production (By similarity). Homotrimer. Interacts with TNFRSF14. Cell membrane ; Single-pass type II membrane protein [Tumor necrosis factor ligand superfamily member 14, soluble form]: Secreted The soluble form derives from the membrane form by proteolytic processing. Belongs to the tumor necrosis factor family. receptor binding cytokine activity tumor necrosis factor receptor binding protein binding extracellular region extracellular space plasma membrane apoptotic process immune response signal transduction positive regulation of T cell chemotaxis membrane integral component of membrane T cell costimulation identical protein binding cysteine-type endopeptidase inhibitor activity involved in apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process positive regulation of myoblast differentiation cellular response to mechanical stimulus positive regulation of NIK/NF-kappaB signaling positive regulation of myoblast fusion uc008def.1 uc008def.2 uc008def.3 uc008def.4 
ENSMUST00000006020.8 Cnga2 ENSMUST00000006020.8 cyclic nucleotide gated channel alpha 2, transcript variant 1 (from RefSeq NM_007724.3) CNGA2_MOUSE Cncg2 Cncg4 ENSMUST00000006020.1 ENSMUST00000006020.2 ENSMUST00000006020.3 ENSMUST00000006020.4 ENSMUST00000006020.5 ENSMUST00000006020.6 ENSMUST00000006020.7 NM_007724 Q62398 Q80XH6 uc009tkk.1 uc009tkk.2 uc009tkk.3 This gene encodes a transmembrane protein that is a subunit of the nucleotide-gated olfactory ion channel. Knock out of this gene affects development of the olfactory epithelium and olfactory bulb. [provided by RefSeq, May 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC048775.1, AK132574.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849381, SAMN01164131 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Odorant signal transduction is probably mediated by a G- protein coupled cascade using cAMP as second messenger. The olfactory channel can be shown to be activated by cyclic nucleotides which leads to a depolarization of olfactory sensory neurons. Heterotetramer composed of two subunits of CNGA2, one of CNGA4 and one of CNGB1b. The complex forms the cyclic nucleotide-gated (CNG) channel of olfactory sensory neurons (By similarity). Membrane; Multi-pass membrane protein. The C-terminal coiled-coil domain mediates trimerization of CNGA subunits. Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA2 subfamily. It is uncertain whether Met-1 or Met-2 is the initiator. nucleotide binding ion channel activity intracellular cAMP activated cation channel activity intracellular cGMP activated cation channel activity voltage-gated potassium channel activity calmodulin binding plasma membrane ion transport potassium ion transport sensory perception of smell membrane integral component of membrane intracellular cyclic nucleotide activated cation channel complex cAMP binding cGMP binding ion transmembrane transport perikaryon response to stimulus protein homotetramerization protein heterotetramerization membrane depolarization transmembrane transport potassium ion transmembrane transport cation transmembrane transport uc009tkk.1 uc009tkk.2 uc009tkk.3 
ENSMUST00000006027.7 Reep5 ENSMUST00000006027.7 receptor accessory protein 5 (from RefSeq NM_007874.3) ENSMUST00000006027.1 ENSMUST00000006027.2 ENSMUST00000006027.3 ENSMUST00000006027.4 ENSMUST00000006027.5 ENSMUST00000006027.6 G3X8R0 G3X8R0_MOUSE NM_007874 Reep5 uc008eki.1 uc008eki.2 uc008eki.3 uc008eki.4 uc008eki.5 uc008eki.6 Plays an essential role in heart function and development by regulating the organization and function of the sarcoplasmic reticulum in cardiomyocytes. Endoplasmic reticulum membrane ; Multi-pass membrane protein Membrane ; Multi- pass membrane protein Belongs to the DP1 family. membrane integral component of membrane endoplasmic reticulum tubular network uc008eki.1 uc008eki.2 uc008eki.3 uc008eki.4 uc008eki.5 uc008eki.6 
ENSMUST00000006029.11 Arhgap8 ENSMUST00000006029.11 Rho GTPase activating protein 8, transcript variant 4 (from RefSeq NM_001205334.1) ENSMUST00000006029.1 ENSMUST00000006029.10 ENSMUST00000006029.2 ENSMUST00000006029.3 ENSMUST00000006029.4 ENSMUST00000006029.5 ENSMUST00000006029.6 ENSMUST00000006029.7 ENSMUST00000006029.8 ENSMUST00000006029.9 NM_001205334 Q99JY7 Q9CXP4 RHG08_MOUSE uc057kul.1 uc057kul.2 GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Highly expressed in skeletal muscle, lung and testis, and at lower levels in kidney, stomach and colon. Not detected in heart, liver, spleen, breast, brain, neonatal head or pancreas. Sequence=AAH10306.2; Type=Erroneous initiation; Evidence=; GTPase activator activity signal transduction positive regulation of GTPase activity uc057kul.1 uc057kul.2 
ENSMUST00000006035.13 Ergic3 ENSMUST00000006035.13 ERGIC and golgi 3, transcript variant 3 (from RefSeq NM_025516.5) B7ZCN9 ENSMUST00000006035.1 ENSMUST00000006035.10 ENSMUST00000006035.11 ENSMUST00000006035.12 ENSMUST00000006035.2 ENSMUST00000006035.3 ENSMUST00000006035.4 ENSMUST00000006035.5 ENSMUST00000006035.6 ENSMUST00000006035.7 ENSMUST00000006035.8 ENSMUST00000006035.9 ERGI3_MOUSE Erv46 NM_025516 Q6PGA7 Q9CQE7 Sdbcag84 uc008nlx.1 uc008nlx.2 uc008nlx.3 Possible role in transport between endoplasmic reticulum and Golgi. Positively regulates trafficking of the secretory proteins alpha1-antitrypsin/SERPINA1 and HP/haptoglobin (By similarity). Forms homodimers (By similarity). May form a heteromeric complex composed of ERGIC1, ERGIC2 and ERGIC3 (By similarity). Within the complex, the interaction with ERGIC1 is direct (By similarity). Interacts with ERGIC1/ERGIC32 (By similarity). Interacts with ERGIC2, the interaction is required for the stable expression of both proteins (By similarity). Interacts with MARCHF2 (By similarity). Interacts with SERPINA1/alpha1-antitrypsin and HP/haptoglobin (By similarity). Endoplasmic reticulum-Golgi intermediate compartment membrane ; Multi-pass membrane protein Golgi apparatus, cis-Golgi network membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein Note=Cycles between the endoplasmic reticulum and the Golgi. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CQE7-1; Sequence=Displayed; Name=2; IsoId=Q9CQE7-2; Sequence=VSP_019209, VSP_019210; Expression is particularly strong in liver, kidney and brain but is almost undetectable in heart. Belongs to the ERGIC family. molecular_function endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus ER to Golgi vesicle-mediated transport retrograde vesicle-mediated transport, Golgi to ER membrane integral component of membrane vesicle-mediated transport ER to Golgi transport vesicle integral component of Golgi membrane integral component of endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment membrane uc008nlx.1 uc008nlx.2 uc008nlx.3 
ENSMUST00000006037.13 Ncoa2 ENSMUST00000006037.13 nuclear receptor coactivator 2, transcript variant a (from RefSeq NM_008678.3) E9QMH9 ENSMUST00000006037.1 ENSMUST00000006037.10 ENSMUST00000006037.11 ENSMUST00000006037.12 ENSMUST00000006037.2 ENSMUST00000006037.3 ENSMUST00000006037.4 ENSMUST00000006037.5 ENSMUST00000006037.6 ENSMUST00000006037.7 ENSMUST00000006037.8 ENSMUST00000006037.9 Grip1 NCOA2_MOUSE NM_008678 O09001 P97759 Q61026 Src2 Tif2 uc007aim.1 uc007aim.2 uc007aim.3 uc007aim.4 Transcriptional coactivator for steroid receptors and nuclear receptors (PubMed:11997499, PubMed:12507421, PubMed:16148126, PubMed:19039140, PubMed:31851938). Coactivator of the steroid binding domain (AF-2) but not of the modulating N-terminal domain (AF-1) (PubMed:11997499, PubMed:12507421, PubMed:16148126, PubMed:19039140). Required with NCOA1 to control energy balance between white and brown adipose tissues (PubMed:11997499, PubMed:12507421, PubMed:16148126, PubMed:19039140). Critical regulator of glucose metabolism regulation, acts as a RORA coactivator to specifically modulate G6PC1 expression (PubMed:11997499, PubMed:12507421, PubMed:16148126, PubMed:19039140). Involved in the positive regulation of the transcriptional activity of the glucocorticoid receptor NR3C1 by sumoylation enhancer RWDD3 (PubMed:11997499, PubMed:12507421, PubMed:16148126, PubMed:19039140). Positively regulates the circadian clock by acting as a transcriptional coactivator for the CLOCK-BMAL1 heterodimer (PubMed:24529706). Present in a complex containing NCOA3, IKKA, IKKB, IKBKG and CREBBP (By similarity). Present in a complex containing CARM1 and EP300/P300 (PubMed:11997499, PubMed:10381882). Interacts (via C- terminus) with CREBBP (By similarity). Interacts (via LXXLL 1, 2 and 3 motifs) with RORA (via AF-2 motif) (PubMed:19039140). Interacts (via LXXLL 1, 2 and 3 motifs) with RORC (via AF-2 motif) (PubMed:16148126). Interacts with APEX1 (By similarity). Interacts with BMAL1 (PubMed:24529706). Interacts with CARM1 (PubMed:10381882). Interacts with CASP8AP2 (PubMed:12477726). Interacts with CLOCK (PubMed:24529706). Interacts with DDX5 (By similarity). Interacts with ESR1 (By similarity). Interacts with HIF1A (By similarity). Interacts with NCOA1 (By similarity). Interacts with NR4A1/Nur77 (By similarity). Interacts with NR4A3; potentiates the activity of the NR4A3 (PubMed:12709428). Interacts with NR1H3 (By similarity). Interacts with NR3C1 (By similarity). Interacts with NR3C2 (PubMed:9111344). Interacts with PSMB9 (By similarity). Interacts with RARA (By similarity). Interacts with RXRA (By similarity). Interacts with RWDD3 (By similarity). Interacts with TTLL5/STAMP (By similarity). Q61026; Q4FZB7-1: KMT5B; Xeno; NbExp=4; IntAct=EBI-688662, EBI-15746366; Q61026; P04150-1: NR3C1; Xeno; NbExp=3; IntAct=EBI-688662, EBI-15750116; Nucleus Ubiquitous. Expressed in a circadian manner in the liver, brown adipose tissue (BAT), white adipose tissue (WAT), heart, skeletal muscle and suprachiasmatic nucleus (SCN) of the brain. Shows a higher expression during the light phase compared with the dark phase. Contains four Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The LXXLL motifs are essential for the association with nuclear receptors and are, at least in part, functionally redundant. The LLXXLXXXL motif is involved in transcriptional coactivation and CREBBP/CBP binding. Contains 2 C-terminal transcription activation domains (AD1 and AD2) that can function independently. Acetylated (PubMed:31851938). Deacetylation at Lys-780 by SIRT6 stimulates its ability to coactivate PPARA (PubMed:31851938). Animals show a glycogenopathy resembling to Von Gierke's disease with impaired growth, fasting hypoglycemia, and an increase in concentrations of triglycerides, cholesterol, free fatty acids, ketone bodies, uric acid and lactic acid in the plasma during fating. They also have increased liver glycogen stores and hepatic steatosis. Belongs to the SRC/p160 nuclear receptor coactivator family. Sequence=AAB61575.1; Type=Frameshift; Evidence=; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding chromatin binding transcription coactivator activity receptor binding protein binding nucleus nucleoplasm cytoplasm rough endoplasmic reticulum Golgi apparatus microtubule regulation of transcription, DNA-templated circadian rhythm transcription factor binding regulation of gene expression regulation of glucose metabolic process postsynaptic density nuclear body ligand-dependent nuclear receptor binding aryl hydrocarbon receptor binding protein domain specific binding PDZ domain binding estrogen receptor binding ligand-dependent nuclear receptor transcription coactivator activity thyroid hormone receptor coactivator activity dendrite response to progesterone cellular response to hormone stimulus circadian regulation of gene expression macromolecular complex progesterone receptor binding nuclear hormone receptor binding glucocorticoid receptor binding retinoic acid receptor binding neuronal cell body dendritic spine macromolecular complex binding locomotor rhythm negative regulation of transcription, DNA-templated positive regulation of female receptivity positive regulation of transcription from RNA polymerase II promoter retinoid X receptor binding thyroid hormone receptor binding protein dimerization activity rhythmic process presynaptic active zone DNA polymerase binding cellular response to Thyroglobulin triiodothyronine positive regulation of glucocorticoid receptor signaling pathway uc007aim.1 uc007aim.2 uc007aim.3 uc007aim.4 
ENSMUST00000006046.5 Trh ENSMUST00000006046.5 thyrotropin releasing hormone (from RefSeq NM_009426.3) ENSMUST00000006046.1 ENSMUST00000006046.2 ENSMUST00000006046.3 ENSMUST00000006046.4 NM_009426 Q62361 Q7TMT4 TRH_MOUSE uc009cyw.1 uc009cyw.2 uc009cyw.3 This gene encodes a member of the thyrotropin-releasing hormone family. Cleavage of the encoded proprotein releases mature thyrotropin-releasing hormone, which is a tripeptide hypothalamic regulatory hormone. The mouse proprotein contains five thyrotropin-releasing hormone tripeptides. Thyrotropin-releasing hormone is involved in the regulation and release of thyroid-stimulating hormone, as well as prolactin. Disruption of this gene results in hypothyroidism, elevated thyroid-stimulating hormone levels, and hyperglycemia. [provided by RefSeq, Apr 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC053493.1, AK010666.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN01164131, SAMN01164139 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Functions as a regulator of the biosynthesis of TSH in the anterior pituitary gland and as a neurotransmitter/ neuromodulator in the central and peripheral nervous systems. Secreted. Specifically expressed in hypothalamus and testis. Belongs to the TRH family. response to hypoxia histamine metabolic process hormone activity protein binding extracellular region nucleus cytoplasm plasma membrane adult walking behavior thyrotropin-releasing hormone activity response to cold response to glucose hormone-mediated signaling pathway negative regulation of glutamate secretion positive regulation of gamma-aminobutyric acid secretion response to organic cyclic compound secretory granule positive regulation of insulin secretion eating behavior response to ethanol response to corticosterone negative regulation of feeding behavior uc009cyw.1 uc009cyw.2 uc009cyw.3 
ENSMUST00000006053.13 Smpd4 ENSMUST00000006053.13 sphingomyelin phosphodiesterase 4, transcript variant 1 (from RefSeq NM_029945.4) ENSMUST00000006053.1 ENSMUST00000006053.10 ENSMUST00000006053.11 ENSMUST00000006053.12 ENSMUST00000006053.2 ENSMUST00000006053.3 ENSMUST00000006053.4 ENSMUST00000006053.5 ENSMUST00000006053.6 ENSMUST00000006053.7 ENSMUST00000006053.8 ENSMUST00000006053.9 Kiaa1418 NM_029945 NSMA3_MOUSE Q3TPE0 Q3TPP1 Q6ZPR5 Q8CBJ5 Q8CD12 Q8CD83 Q8R0J3 Q9CX74 uc007yll.1 uc007yll.2 uc007yll.3 uc007yll.4 Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide (PubMed:25180167). It has a relevant role in the homeostasis of membrane sphingolipids, thereby influencing membrane integrity, and endoplasmic reticulum organization and function. May sensitize cells to DNA damage-induced apoptosis. In skeletal muscle, mediates TNF-stimulated oxidant production (PubMed:25180167). [Isoform 1]: Reaction=a sphingomyelin + H2O = an N-acylsphing-4-enine + H(+) + phosphocholine; Xref=Rhea:RHEA:19253, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17636, ChEBI:CHEBI:52639, ChEBI:CHEBI:295975; EC=3.1.4.12; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19254; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Activated by phosphatidylserine and tumor necrosis factor (TNF) (PubMed:25180167). Inhibited by scyphostatin (By similarity). Endoplasmic reticulum membrane ; Single-pass membrane protein Golgi apparatus membrane ; Single-pass membrane protein Nucleus envelope Cell membrane, sarcolemma Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=nSMase3a ; IsoId=Q6ZPR5-1; Sequence=Displayed; Name=2; Synonyms=nSMase3b ; IsoId=Q6ZPR5-2; Sequence=VSP_022485; Name=3; IsoId=Q6ZPR5-3; Sequence=VSP_022485, VSP_022486; Name=4; IsoId=Q6ZPR5-4; Sequence=VSP_022485, VSP_022487; Name=5; IsoId=Q6ZPR5-5; Sequence=VSP_022484, VSP_022485; [Isoform 1]: Expressed in skeletal muscle (at protein level). [Isoform 2]: Expressed in skeletal muscle but a lower levels than isoform 1 (at protein level). Sequence=BAC98164.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Golgi membrane in utero embryonic development sphingomyelin phosphodiesterase activity nuclear envelope endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus trans-Golgi network sphingomyelin catabolic process membrane integral component of membrane hydrolase activity glycerophospholipid catabolic process ceramide biosynthetic process metal ion binding sphingomyelin phosphodiesterase D activity cellular response to tumor necrosis factor uc007yll.1 uc007yll.2 uc007yll.3 uc007yll.4 
ENSMUST00000006071.14 Otx1 ENSMUST00000006071.14 orthodenticle homeobox 1 (from RefSeq NM_011023.3) ENSMUST00000006071.1 ENSMUST00000006071.10 ENSMUST00000006071.11 ENSMUST00000006071.12 ENSMUST00000006071.13 ENSMUST00000006071.2 ENSMUST00000006071.3 ENSMUST00000006071.4 ENSMUST00000006071.5 ENSMUST00000006071.6 ENSMUST00000006071.7 ENSMUST00000006071.8 ENSMUST00000006071.9 NM_011023 Otx1 Q5SS54 Q5SS54_MOUSE uc007idy.1 uc007idy.2 uc007idy.3 This gene encodes a member of the bicoid subfamily of the paired homeobox transcription factor family. The encoded protein is critical to the maintenance and regionalization of the forebrain and midbrain during development. It may also have important functions in sense organ development, pituitary function, and in the regulation of blood cell production. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK042975.1, AK083671.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849384 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## Nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated multicellular organism development sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter uc007idy.1 uc007idy.2 uc007idy.3 
ENSMUST00000006094.6 Cyp2d26 ENSMUST00000006094.6 cytochrome P450, family 2, subfamily d, polypeptide 26 (from RefSeq NM_029562.2) A0A0R4IZY2 A0A0R4IZY2_MOUSE Cyp2d26 ENSMUST00000006094.1 ENSMUST00000006094.2 ENSMUST00000006094.3 ENSMUST00000006094.4 ENSMUST00000006094.5 NM_029562 uc007wzn.1 uc007wzn.2 uc007wzn.3 Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Name=heme; Xref=ChEBI:CHEBI:30413; Evidence= Endoplasmic reticulum membrane Microsome membrane ; Peripheral membrane protein Belongs to the cytochrome P450 family. monooxygenase activity iron ion binding female pregnancy membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen heme binding response to drug intracellular membrane-bounded organelle metal ion binding oxidation-reduction process uc007wzn.1 uc007wzn.2 uc007wzn.3 
ENSMUST00000006101.4 Itgae ENSMUST00000006101.4 integrin alpha E, epithelial-associated, transcript variant 1 (from RefSeq NM_008399.4) B1AUD5 ENSMUST00000006101.1 ENSMUST00000006101.2 ENSMUST00000006101.3 ITAE_MOUSE NM_008399 Q60677 uc007jzy.1 uc007jzy.2 uc007jzy.3 uc007jzy.4 Integrin alpha-E/beta-7 is a receptor for E-cadherin. It mediates adhesion of intra-epithelial T-lymphocytes to epithelial cell monolayers. Mice expressing a null mutation of the alpha-E subunit gene exhibit a marked reduction in the numbers of intraepithelial lymphocytes in the gut and in the development of gut-associated lymphoid aggregates, supporting a specific role for this integrin in mediating retention of lymphocytes in the intestinal wall. Heterodimer of an alpha and a beta subunit. The alpha subunit is composed of a heavy and a light chains linked by a disulfide bond. Alpha-E associates with beta-7. Membrane; Single-pass type I membrane protein. The integrin I-domain (insert) is a VWFA domain. Integrins with I-domains do not undergo protease cleavage. Belongs to the integrin alpha chain family. cell adhesion integrin-mediated signaling pathway integrin complex external side of plasma membrane membrane integral component of membrane metal ion binding uc007jzy.1 uc007jzy.2 uc007jzy.3 uc007jzy.4 
ENSMUST00000006103.9 Ctns ENSMUST00000006103.9 cystinosis, nephropathic, transcript variant 1 (from RefSeq NM_031251.4) Ctns ENSMUST00000006103.1 ENSMUST00000006103.2 ENSMUST00000006103.3 ENSMUST00000006103.4 ENSMUST00000006103.5 ENSMUST00000006103.6 ENSMUST00000006103.7 ENSMUST00000006103.8 NM_031251 Q542U5 Q542U5_MOUSE uc007kae.1 uc007kae.2 uc007kae.3 Reaction=H(+)(out) + L-cystine(out) = H(+)(in) + L-cystine(in); Xref=Rhea:RHEA:66172, ChEBI:CHEBI:15378, ChEBI:CHEBI:35491; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:66173; Evidence=; Membrane ; Multi- pass membrane protein Belongs to the cystinosin family. lysosome lysosomal membrane late endosome glutathione metabolic process brain development negative regulation of hydrogen peroxide biosynthetic process positive regulation of mitochondrial membrane potential L-cystine transmembrane transporter activity L-cystine transport membrane integral component of membrane intracellular membrane-bounded organelle intermediate filament cytoskeleton ATP metabolic process cognition negative regulation of reactive oxygen species biosynthetic process uc007kae.1 uc007kae.2 uc007kae.3 
ENSMUST00000006104.10 P2rx5 ENSMUST00000006104.10 purinergic receptor P2X, ligand-gated ion channel, 5, transcript variant 1 (from RefSeq NM_033321.4) ENSMUST00000006104.1 ENSMUST00000006104.2 ENSMUST00000006104.3 ENSMUST00000006104.4 ENSMUST00000006104.5 ENSMUST00000006104.6 ENSMUST00000006104.7 ENSMUST00000006104.8 ENSMUST00000006104.9 NM_033321 P2rx5 Q3UYI1 Q3UYI1_MOUSE uc007kaa.1 uc007kaa.2 uc007kaa.3 uc007kaa.4 Receptor for ATP that acts as a ligand-gated ion channel. Functional P2XRs are organized as homomeric and heteromeric trimers. Membrane ulti-pass membrane protein Belongs to the P2X receptor family. nucleotide binding purinergic nucleotide receptor activity extracellular ATP-gated cation channel activity ion channel activity ATP binding GTP binding integral component of nuclear inner membrane cytosol plasma membrane integral component of plasma membrane ion transport cell surface receptor signaling pathway drug binding zinc ion binding membrane integral component of membrane neuronal action potential response to ATP purinergic nucleotide receptor signaling pathway regulation of skeletal muscle tissue regeneration protein homooligomerization excitatory postsynaptic potential cation transmembrane transport postsynapse uc007kaa.1 uc007kaa.2 uc007kaa.3 uc007kaa.4 
ENSMUST00000006105.7 Shpk ENSMUST00000006105.7 sedoheptulokinase (from RefSeq NM_029031.3) Carkl ENSMUST00000006105.1 ENSMUST00000006105.2 ENSMUST00000006105.3 ENSMUST00000006105.4 ENSMUST00000006105.5 ENSMUST00000006105.6 NM_029031 Q5SSE0 Q9D5J6 SHPK_MOUSE uc007kag.1 uc007kag.2 uc007kag.3 Acts as a modulator of macrophage activation through control of glucose metabolism. Reaction=ATP + sedoheptulose = ADP + D-sedoheptulose 7-phosphate + H(+); Xref=Rhea:RHEA:23844, ChEBI:CHEBI:15378, ChEBI:CHEBI:16802, ChEBI:CHEBI:30616, ChEBI:CHEBI:57483, ChEBI:CHEBI:456216; EC=2.7.1.14; Evidence=; Kinetic parameters: KM=0.19 mM for sedoheptulose ; Vmax=0.128 nmol/min/mg enzyme (at 30 degrees Celsius) ; Cytoplasm Up-regulated by IL-4 and IL-13. Down-regulated by LPS. Belongs to the FGGY kinase family. nucleotide binding ATP binding cytoplasm cytosol carbohydrate metabolic process pentose-phosphate shunt, non-oxidative branch kinase activity phosphorylation transferase activity phosphotransferase activity, alcohol group as acceptor cellular response to interleukin-13 regulation of macrophage activation sedoheptulokinase activity regulation of inflammatory response cellular response to lipopolysaccharide cellular response to interleukin-4 uc007kag.1 uc007kag.2 uc007kag.3 
ENSMUST00000006112.7 Ephb3 ENSMUST00000006112.7 Eph receptor B3 (from RefSeq NM_010143.2) ENSMUST00000006112.1 ENSMUST00000006112.2 ENSMUST00000006112.3 ENSMUST00000006112.4 ENSMUST00000006112.5 ENSMUST00000006112.6 EPHB3_MOUSE Etk2 Mdk5 NM_010143 P54754 Q62214 Q91YS9 Sek4 uc007yrg.1 uc007yrg.2 uc007yrg.3 Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Generally has an overlapping and redundant function with EPHB2. Like EPHB2, functions in axon guidance during development regulating for instance the neurons forming the corpus callosum and the anterior commissure, 2 major interhemispheric connections between the temporal lobes of the cerebral cortex. In addition to its role in axon guidance also plays an important redundant role with other ephrin-B receptors in development and maturation of dendritic spines and the formation of excitatory synapses. Controls other aspects of development through regulation of cell migration and positioning. This includes angiogenesis, palate development and thymic epithelium development for instance. Forward and reverse signaling through the EFNB2/EPHB3 complex also regulate migration and adhesion of cells that tubularize the urethra and septate the cloaca. Finally, plays an important role in intestinal epithelium differentiation segregating progenitor from differentiated cells in the crypt. Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence=; Heterotetramer upon binding of the ligand. The heterotetramer is composed of an ephrin dimer and a receptor dimer. Oligomerization is probably required to induce biological responses (By similarity). Cell membrane ; Single-pass type I membrane protein Cell projection, dendrite Expressed in cells of the retinal ganglion cell layer during retinal axon guidance to the optic disk. Expressed by Paneth and progenitor cells in the crypts of the intestinal epithelium (at protein level). Expressed in myogenic progenitor cells (PubMed:27446912). Expressed during development in yolk sacs and by embryonic endothelial cells. Expressed in the developing intestinal epithelium at the bottom of the intervillus pockets where undifferentiated cells are allocated (at protein level). In myogenic progenitor cells, highly expressed during early development (11.5 dpc) and progressively repressed as developments proceeds (PubMed:27446912). Phosphorylated. Autophosphorylates upon ligand-binding. Autophosphorylation on Tyr-609 is required for interaction with SH2 domain-containing proteins (By similarity). Ubiquitinated by RNF186, mainly through 'Lys-48' and 'Lys-63'- linked polyubiquitin chains. Mice are viable and fertile and show no obvious abnormal behavior. The corpus callosum, the main axon tract connecting the left and right cerebral hemispheres, is not formed in a significant fraction of newborns. This is associated with defects in guidance of callosal axons across the midline. Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. nucleotide binding angiogenesis urogenital system development protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity ephrin receptor activity transmembrane-ephrin receptor activity ATP binding plasma membrane integral component of plasma membrane protein phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development nervous system development axon guidance axonal fasciculation axon guidance receptor activity membrane integral component of membrane kinase activity phosphorylation cell migration transferase activity peptidyl-tyrosine phosphorylation central nervous system projection neuron axonogenesis corpus callosum development regulation of cell-cell adhesion dendrite retinal ganglion cell axon guidance substrate adhesion-dependent cell spreading cell projection regulation of GTPase activity receptor complex protein autophosphorylation ephrin receptor signaling pathway thymus development digestive tract morphogenesis regulation of axonogenesis positive regulation of synapse assembly palate development dendritic spine development dendritic spine morphogenesis uc007yrg.1 uc007yrg.2 uc007yrg.3 
ENSMUST00000006128.7 Rcn1 ENSMUST00000006128.7 reticulocalbin 1 (from RefSeq NM_009037.2) ENSMUST00000006128.1 ENSMUST00000006128.2 ENSMUST00000006128.3 ENSMUST00000006128.4 ENSMUST00000006128.5 ENSMUST00000006128.6 NM_009037 Q05186 Q3TVU3 RCN1_MOUSE Rca1 Rcn uc008lks.1 uc008lks.2 uc008lks.3 May regulate calcium-dependent activities in the endoplasmic reticulum lumen or post-ER compartment. Endoplasmic reticulum lumen. O-glycosylated. O-mannosylated by POMT1 and POMT2 and elongated by POMGNT1. This protein has four functional calcium-binding sites; potential sites II and VI have lost affinity for calcium. Belongs to the CREC family. in utero embryonic development calcium ion binding endoplasmic reticulum endoplasmic reticulum lumen camera-type eye development metal ion binding uc008lks.1 uc008lks.2 uc008lks.3 
ENSMUST00000006136.11 Dnase1 ENSMUST00000006136.11 deoxyribonuclease I, transcript variant 1 (from RefSeq NM_010061.6) Dnase1 ENSMUST00000006136.1 ENSMUST00000006136.10 ENSMUST00000006136.2 ENSMUST00000006136.3 ENSMUST00000006136.4 ENSMUST00000006136.5 ENSMUST00000006136.6 ENSMUST00000006136.7 ENSMUST00000006136.8 ENSMUST00000006136.9 NM_010061 Q14BW6 Q14BW6_MOUSE uc007xzj.1 uc007xzj.2 uc007xzj.3 uc007xzj.4 Reaction=Endonucleolytic cleavage to 5'-phosphodinucleotide and 5'- phosphooligonucleotide end-products.; EC=3.1.21.1; Evidence=; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Nucleus envelope Secreted Zymogen granule Belongs to the DNase I family. nuclease activity endonuclease activity deoxyribonuclease I activity deoxyribonuclease activity DNA catabolic process hydrolase activity nucleic acid phosphodiester bond hydrolysis uc007xzj.1 uc007xzj.2 uc007xzj.3 uc007xzj.4 
ENSMUST00000006137.9 Trap1 ENSMUST00000006137.9 TNF receptor-associated protein 1, transcript variant 2 (from RefSeq NR_152409.1) ENSMUST00000006137.1 ENSMUST00000006137.2 ENSMUST00000006137.3 ENSMUST00000006137.4 ENSMUST00000006137.5 ENSMUST00000006137.6 ENSMUST00000006137.7 ENSMUST00000006137.8 Hsp75 NR_152409 Q542I4 Q9CQN1 TRAP1_MOUSE uc007xzk.1 uc007xzk.2 uc007xzk.3 Chaperone that expresses an ATPase activity. Involved in maintaining mitochondrial function and polarization, downstream of PINK1 and mitochondrial complex I. Is a negative regulator of mitochondrial respiration able to modulate the balance between oxidative phosphorylation and aerobic glycolysis. The impact of TRAP1 on mitochondrial respiration is probably mediated by modulation of mitochondrial SRC and inhibition of SDHA. Binds to the intracellular domain of tumor necrosis factor type 1 receptor. Binds to RB1. Interacts with SRC. Interacts with SDHA. Mitochondrion Mitochondrion inner membrane Mitochondrion matrix Belongs to the heat shock protein 90 family. nucleotide binding RNA binding ATP binding nucleoplasm mitochondrion mitochondrial inner membrane mitochondrial intermembrane space mitochondrial matrix protein folding translational attenuation membrane protein kinase binding unfolded protein binding negative regulation of cellular respiration negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide uc007xzk.1 uc007xzk.2 uc007xzk.3 
ENSMUST00000006151.13 Tyrp1 ENSMUST00000006151.13 tyrosinase-related protein 1, transcript variant 1 (from RefSeq NM_031202.3) ENSMUST00000006151.1 ENSMUST00000006151.10 ENSMUST00000006151.11 ENSMUST00000006151.12 ENSMUST00000006151.2 ENSMUST00000006151.3 ENSMUST00000006151.4 ENSMUST00000006151.5 ENSMUST00000006151.6 ENSMUST00000006151.7 ENSMUST00000006151.8 ENSMUST00000006151.9 NM_031202 Q3UFS3 Q3UFS3_MOUSE RP23-372M15.1-001 Tyrp1 uc008tjr.1 uc008tjr.2 uc008tjr.3 uc008tjr.4 Reaction=2 5,6-dihydroxyindole-2-carboxylate + O2 = 2 H2O + 2 indole-5,6-quinone-2-carboxylate; Xref=Rhea:RHEA:68388, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16875, ChEBI:CHEBI:177869; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:68389; Evidence=; Name=Cu(2+); Xref=ChEBI:CHEBI:29036; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Pigment biosynthesis; melanin biosynthesis. Melanosome membrane ; Single-pass type I membrane protein Belongs to the tyrosinase family. monophenol monooxygenase activity cytoplasm endosome membrane membrane integral component of membrane oxidoreductase activity clathrin-coated endocytic vesicle membrane metal ion binding positive regulation of melanin biosynthetic process oxidation-reduction process intracellular vesicle uc008tjr.1 uc008tjr.2 uc008tjr.3 uc008tjr.4 
ENSMUST00000006178.5 Kptn ENSMUST00000006178.5 kaptin (from RefSeq NM_133727.2) ENSMUST00000006178.1 ENSMUST00000006178.2 ENSMUST00000006178.3 ENSMUST00000006178.4 G3X8R1 G3X8R1_MOUSE Kptn NM_133727 uc009fgy.1 uc009fgy.2 uc009fgy.3 uc009fgy.4 actin binding actin filament organization actin cytoskeleton lamellipodium filamentous actin cellular response to amino acid starvation cellular response to glucose starvation actin filament binding protein localization to lysosome postsynaptic actin cytoskeleton negative regulation of TORC1 signaling uc009fgy.1 uc009fgy.2 uc009fgy.3 uc009fgy.4 
ENSMUST00000006181.7 Napa ENSMUST00000006181.7 N-ethylmaleimide sensitive fusion protein attachment protein alpha (from RefSeq NM_025898.4) ENSMUST00000006181.1 ENSMUST00000006181.2 ENSMUST00000006181.3 ENSMUST00000006181.4 ENSMUST00000006181.5 ENSMUST00000006181.6 NM_025898 Q543I3 Q9DB05 SNAA_MOUSE Snapa uc009fgw.1 uc009fgw.2 uc009fgw.3 Required for vesicular transport between the endoplasmic reticulum and the Golgi apparatus. Together with GNA12 promotes CDH5 localization to plasma membrane. Interacts with PRKCABP, and disrupts the interaction between GRIA2 and PRKCABP, leading to the internalization of GRIA2 (By similarity). Found in a complex with VAMP8 (By similarity). Component of a SNARE-like complex that contains at least ZW10, USE1L, RINT1, STX18 and NAPA/SNAP-alpha (By similarity). Interacts with VTI1A (PubMed:9705316). Interacts with STX12 (By similarity). Interacts with GNA12 (via N-terminus); the interaction promotes CDH5 localization to plasma membrane (By similarity). Cell membrane ; Peripheral membrane protein Belongs to the SNAP family. SNARE binding soluble NSF attachment protein activity protein binding vacuolar membrane plasma membrane intracellular protein transport brain development regulation of synaptic vesicle priming protein transport membrane synaptic vesicle priming vesicle-mediated transport syntaxin binding neuron differentiation SNARE complex positive regulation of ATPase activity macromolecular complex disassembly synaptic transmission, glutamatergic SNARE complex disassembly myelin sheath macromolecular complex binding apical protein localization synaptobrevin 2-SNAP-25-syntaxin-1a complex presynapse postsynapse glutamatergic synapse uc009fgw.1 uc009fgw.2 uc009fgw.3 
ENSMUST00000006217.10 Snf8 ENSMUST00000006217.10 SNF8, ESCRT-II complex subunit, homolog (S. cerevisiae), transcript variant 7 (from RefSeq NR_189311.1) A2A6M2 D11Moh34 ENSMUST00000006217.1 ENSMUST00000006217.2 ENSMUST00000006217.3 ENSMUST00000006217.4 ENSMUST00000006217.5 ENSMUST00000006217.6 ENSMUST00000006217.7 ENSMUST00000006217.8 ENSMUST00000006217.9 NR_189311 Q9CZ28 SNF8_MOUSE uc007lbb.1 uc007lbb.2 uc007lbb.3 Component of the endosomal sorting complex required for transport II (ESCRT-II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation by participating in derepression of transcription by RNA polymerase II, possibly via its interaction with ELL. Required for degradation of both endocytosed EGF and EGFR, but not for the EGFR ligand-mediated internalization. Required for the exosomal release of SDCBP, CD63 and syndecan (By similarity). Component of the endosomal sorting complex required for transport II (ESCRT-II), composed of SNF8, VPS25 and VPS36. SNF8 is essential for the stability of the ESCRT-II complex. ESCRT-II interacts with ELL. Interacts with TSG101 (via the C-terminal domain). Interacts with RILPL1 (via the N-terminal domain); which recruits ESCRT-II to the endosome membranes. Interacts with 14-3-3 proteins (By similarity). Cytoplasm Endosome membrane Nucleus Late endosome membrane Note=Recruited to the endosome membrane to participate in vesicle formation. Belongs to the SNF8 family. ESCRT II complex nucleus nucleoplasm transcription factor complex cytoplasm endosome cytosol plasma membrane regulation of transcription from RNA polymerase II promoter protein C-terminus binding transcription factor binding endosome membrane positive regulation of gene expression regulation of multivesicular body size involved in endosome transport protein transport membrane channel regulator activity late endosome membrane endocytic recycling regulation of protein catabolic process protein homodimerization activity protein targeting to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome to late endosome transport positive regulation of protein catabolic process protein N-terminus binding perinuclear region of cytoplasm recycling endosome regulation of protein complex stability multivesicular body sorting pathway positive regulation of exosomal secretion regulation of viral budding via host ESCRT complex uc007lbb.1 uc007lbb.2 uc007lbb.3 
ENSMUST00000006221.14 Vps54 ENSMUST00000006221.14 VPS54 GARP complex subunit, transcript variant 1 (from RefSeq NM_139061.5) ENSMUST00000006221.1 ENSMUST00000006221.10 ENSMUST00000006221.11 ENSMUST00000006221.12 ENSMUST00000006221.13 ENSMUST00000006221.2 ENSMUST00000006221.3 ENSMUST00000006221.4 ENSMUST00000006221.5 ENSMUST00000006221.6 ENSMUST00000006221.7 ENSMUST00000006221.8 ENSMUST00000006221.9 NM_139061 Q5SPW0 Q8BPB3 Q8CFZ7 Q8CHL5 Q8R3R4 Q8R3X1 VPS54_MOUSE uc007ido.1 uc007ido.2 uc007ido.3 uc007ido.4 uc007ido.5 Acts as a component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of the cycling of mannose 6-phosphate receptors between the TGN and endosomes, this cycling is necessary for proper lysosomal sorting of acid hydrolases such as CTSD. Within the GARP complex, required to tether the complex to the TGN. Not involved in endocytic recycling. Component of the Golgi-associated retrograde protein (GARP) complex, also called VFT (VPS fifty-three) complex, composed of VPS51, VPS52, VPS53 and VPS54 (By similarity). EIPR1 interacts with GARP complex and mediates its recruitment to the trans-Golgi network (By similarity). Interacts with VPS51 in an EIPR1-independent manner (By similarity). Golgi apparatus, trans-Golgi network Membrane Note=Associates with membranes in an EIPR1-independent manner. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5SPW0-1; Sequence=Displayed; Name=2; IsoId=Q5SPW0-2; Sequence=VSP_013757; Note=Defects in Vps54 are the cause of wobbler phenotype (wr). Wr is autosomal recessive and is a spontaneous mutation discovered almost 50 years ago. It causes spinal muscular atrophy and defective spermiogenesis. Belongs to the VPS54 family. Sequence=AAH23474.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; GARP complex nucleoplasm Golgi apparatus trans-Golgi network cytosol Golgi to vacuole transport lysosomal transport protein transport syntaxin binding regulation of growth retrograde transport, endosome to Golgi perinuclear region of cytoplasm homeostasis of number of cells within a tissue musculoskeletal movement neurofilament cytoskeleton organization uc007ido.1 uc007ido.2 uc007ido.3 uc007ido.4 uc007ido.5 
ENSMUST00000006235.9 Ctsb ENSMUST00000006235.9 cathepsin B (from RefSeq NM_007798.3) CATB_MOUSE ENSMUST00000006235.1 ENSMUST00000006235.2 ENSMUST00000006235.3 ENSMUST00000006235.4 ENSMUST00000006235.5 ENSMUST00000006235.6 ENSMUST00000006235.7 ENSMUST00000006235.8 NM_007798 P10605 Q3UDW7 uc007uhh.1 uc007uhh.2 uc007uhh.3 This gene encodes a member of the peptidase C1 family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the cathepsin B light and heavy chains, which can dimerize to generate the double chain form of the enzyme. This enzyme is a lysosomal cysteine protease with both endopeptidase and exopeptidase activity that may play a role in protein turnover. Homozygous knockout mice for this gene exhibit reduced pancreatic damage following induced pancreatitis and reduced hepatocyte apoptosis in a model of liver injury. Pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Aug 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK083393.1, AK151790.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Thiol protease which is believed to participate in intracellular degradation and turnover of proteins (By similarity). Cleaves matrix extracellular phosphoglycoprotein MEPE (By similarity). Involved in the solubilization of cross-linked TG/thyroglobulin in the thyroid follicle lumen (PubMed:12782676). Has also been implicated in tumor invasion and metastasis (By similarity). Reaction=Hydrolysis of proteins with broad specificity for peptide bonds. Preferentially cleaves -Arg-Arg-|-Xaa bonds in small molecule substrates (thus differing from cathepsin L). In addition to being an endopeptidase, shows peptidyl-dipeptidase activity, liberating C- terminal dipeptides.; EC=3.4.22.1; Evidence=; Dimer of a heavy chain and a light chain cross-linked by a disulfide bond. Interacts with SRPX2. Directly interacts with SHKBP1. Lysosome Melanosome Secreted, extracellular space Apical cell membrane ; Peripheral membrane protein ; Extracellular side Note=Localizes to the lumen of thyroid follicles and to the apical membrane of thyroid epithelial cells. Expressed in thyroid epithelial cells. Enlarged thyroid follicles, reduced extension of the thyroid epithelium, and increased levels of Tg/thyroglobulin in the thyroid follicles which fails to assemble into multilayers. Lysosomes are enlarged and CTSK/cathepsin K is absent from the thyroid follicle lumen and mis-localizes to the apical membrane of thyroid epithelial cells. Belongs to the peptidase C1 family. endopeptidase activity cysteine-type endopeptidase activity collagen binding extracellular region extracellular space nucleolus cytoplasm mitochondrion lysosome proteolysis peptidase activity cysteine-type peptidase activity external side of plasma membrane cell surface apical plasma membrane hydrolase activity collagen catabolic process epithelial cell differentiation kininogen binding peptide binding sarcolemma melanosome intracellular membrane-bounded organelle proteoglycan binding protein self-association macromolecular complex binding decidualization viral entry into host cell perinuclear region of cytoplasm regulation of catalytic activity proteolysis involved in cellular protein catabolic process negative regulation of cell death cellular response to thyroid hormone stimulus caveola uc007uhh.1 uc007uhh.2 uc007uhh.3 
ENSMUST00000006254.6 Tbcb ENSMUST00000006254.6 tubulin folding cofactor B, transcript variant 1 (from RefSeq NM_025548.4) Ckap1 ENSMUST00000006254.1 ENSMUST00000006254.2 ENSMUST00000006254.3 ENSMUST00000006254.4 ENSMUST00000006254.5 NM_025548 Q9CWR6 Q9D1E6 Q9DCZ6 TBCB_MOUSE uc009gds.1 uc009gds.2 uc009gds.3 uc009gds.4 Binds to alpha-tubulin folding intermediates after their interaction with cytosolic chaperonin in the pathway leading from newly synthesized tubulin to properly folded heterodimer (By similarity). Involved in regulation of tubulin heterodimer dissociation (PubMed:17184771). May function as a negative regulator of axonal growth (PubMed:17217416). Supercomplex made of cofactors A to E. Cofactors A and D function by capturing and stabilizing tubulin in a quasi-native conformation. Cofactor E binds to the cofactor D-tubulin complex; interaction with cofactor C then causes the release of tubulin polypeptides that are committed to the native state (By similarity). Cofactors B and E can form a heterodimer which binds to alpha-tubulin and enhances their ability to dissociate tubulin heterodimers (PubMed:17184771). Interacts with GAN. Interacts with DCTN1 (By similarity). Cytoplasm Cytoplasm, cytoskeleton Note=Colocalizes with microtubules. In differentiated neurons, located in the cytoplasm. In differentiating neurons, accumulates at the growth cone. Widely expressed with highest levels in brain. Broadly distributed throughout the neonate brain but restricted mainly to ependymary cells in the adult brain where it is concentrated in the cilia. In the embryo, expression increases at 12.5 dpc- 14.5 dpc. Levels are highest in pre- and postnatal stages which coincide with peaks of cerebral and cerebellar neurogenesis (at protein level). Phosphorylation by PAK1 is required for normal function. Ubiquitinated in the presence of GAN which targets it for degradation by the proteasome. Mice display significantly longer axons than wild-type mice. Overexpression of Tbcb causes microtubule depolymerization, growth cone retraction and axonal damage followed by neuronal degeneration. Belongs to the TBCB family. protein binding cytoplasm cytosol cytoskeleton microtubule multicellular organism development nervous system development cell differentiation uc009gds.1 uc009gds.2 uc009gds.3 uc009gds.4 
ENSMUST00000006286.9 Inpp5k ENSMUST00000006286.9 inositol polyphosphate 5-phosphatase K (from RefSeq NM_008916.2) ENSMUST00000006286.1 ENSMUST00000006286.2 ENSMUST00000006286.3 ENSMUST00000006286.4 ENSMUST00000006286.5 ENSMUST00000006286.6 ENSMUST00000006286.7 ENSMUST00000006286.8 INP5K_MOUSE Inpp5k NM_008916 O09040 Pps Q8C5L6 Skip uc007kek.1 uc007kek.2 uc007kek.3 Inositol 5-phosphatase which acts on inositol 1,4,5- trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Has 6- fold higher affinity for phosphatidylinositol 4,5-bisphosphate than for inositol 1,4,5-trisphosphate (By similarity). Negatively regulates assembly of the actin cytoskeleton. Controls insulin-dependent glucose uptake among inositol 3,4,5-trisphosphate phosphatases; therefore, is the specific regulator for insulin signaling in skeletal muscle (PubMed:22247557, PubMed:22751929). Reaction=1D-myo-inositol 1,4,5-trisphosphate + H2O = 1D-myo-inositol 1,4-bisphosphate + phosphate; Xref=Rhea:RHEA:19797, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58282, ChEBI:CHEBI:203600; EC=3.1.3.56; Evidence= Reaction=1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5- trisphosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo- inositol-3,4-bisphosphate) + phosphate; Xref=Rhea:RHEA:43548, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:83416, ChEBI:CHEBI:83417; Evidence=; Reaction=1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo- inositol 1,3,4-trisphosphate + phosphate; Xref=Rhea:RHEA:11392, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57895, ChEBI:CHEBI:58414; EC=3.1.3.56; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5- bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo- inositol 4-phosphate) + phosphate; Xref=Rhea:RHEA:22764, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58178, ChEBI:CHEBI:58456; EC=3.1.3.36; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5- trisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo- inositol-3,4-bisphosphate) + phosphate; Xref=Rhea:RHEA:25528, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57658, ChEBI:CHEBI:57836; EC=3.1.3.86; Evidence=; Interacts with GPR78; necessary for INPP5K localization at the endoplasmic reticulum. Interacts with PAK1; competes with GPR78. Endoplasmic reticulum Cytoplasm Note=Following stimulation with EGF, translocates to membrane ruffles. Expressed in the skeletal muscle and the eye. Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family. in utero embryonic development ruffle negative regulation of protein phosphorylation phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity inositol-polyphosphate 5-phosphatase activity vasopressin receptor activity protein binding nucleus cytoplasm endoplasmic reticulum trans-Golgi network cytosol plasma membrane regulation of glycogen biosynthetic process negative regulation of protein kinase activity G-protein coupled receptor signaling pathway negative regulation of peptidyl-threonine phosphorylation negative regulation of glucose transport membrane dephosphorylation inositol bisphosphate phosphatase activity hydrolase activity ruffle membrane response to insulin cellular response to insulin stimulus cellular response to hormone stimulus negative regulation of peptidyl-serine phosphorylation phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity phosphatidylinositol trisphosphate phosphatase activity phosphatidylinositol phosphate 5-phosphatase activity negative regulation of dephosphorylation positive regulation of urine volume glucose homeostasis neuron projection negative regulation of MAP kinase activity negative regulation by host of viral transcription negative regulation of glycogen biosynthetic process negative regulation of single stranded viral RNA replication via double stranded DNA intermediate negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated inositol trisphosphate phosphatase activity negative regulation of insulin receptor signaling pathway inositol phosphate dephosphorylation phosphatidylinositol dephosphorylation perinuclear region of cytoplasm negative regulation of stress fiber assembly negative regulation of protein kinase B signaling negative regulation of calcium ion transport inositol-1,4,5-trisphosphate 5-phosphatase activity inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity cellular response to cAMP cellular response to tumor necrosis factor cellular response to epidermal growth factor stimulus protein localization to plasma membrane negative regulation of protein targeting to membrane ruffle assembly negative regulation of glycogen (starch) synthase activity positive regulation of renal water transport uc007kek.1 uc007kek.2 uc007kek.3 
ENSMUST00000006293.5 Crkl ENSMUST00000006293.5 v-crk avian sarcoma virus CT10 oncogene homolog-like, transcript variant 1 (from RefSeq NM_007764.5) CRKL_MOUSE Crkol ENSMUST00000006293.1 ENSMUST00000006293.2 ENSMUST00000006293.3 ENSMUST00000006293.4 NM_007764 P47941 Q3TQ18 Q8BGC5 uc007ykv.1 uc007ykv.2 uc007ykv.3 uc007ykv.4 This gene is part of a family of adapter proteins that mediate formation of signal transduction complexes in response to extracellular stimuli, such as growth and differentiation factors. Protein-protein interactions occur through the SH2 domain, which binds phosphorylated tyrosine residues, and the SH3 domain, which binds proline-rich peptide motifs. These interactions promote recruitment and activation of effector proteins to regulate cell migration, adhesion, and proliferation. In certain mouse genetic backgrounds this protein is essential for embryonic development. It is important for neural crest cell differentiation and survival and is proposed to play an important role in transducing the oncogenic signal of Bcr/Abl. Deletion of this gene in mouse mimics the phenotype of DiGeorge/velocardiofacial syndrome in human. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Mar 2013]. May mediate the transduction of intracellular signals. Interacts with DOCK2 and EPOR. Interacts with phosphorylated CBLB and IRS4 (By similarity). Interacts with INPP5D/SHIP1 (PubMed:11031258). Interacts with BCAR1/CAS and NEDD9/HEF1 (By similarity). Phosphorylated on tyrosine. Phosphorylation is prominent during early development, but decreases at later embryonic stages and in newborn mice. Belongs to the CRK family. activation of MAPK activity regulation of cell growth blood vessel development urogenital system development neuron migration B cell apoptotic process phosphotyrosine binding negative regulation of protein phosphorylation positive regulation of protein phosphorylation regulation of leukocyte migration outflow tract morphogenesis protein binding nucleoplasm cytoplasm cytosol lipid metabolic process spermatogenesis single fertilization pattern specification process synapse assembly heart development positive regulation of cell proliferation fibroblast growth factor receptor signaling pathway male gonad development animal organ morphogenesis anterior/posterior pattern specification regulation of gene expression negative regulation of gene expression dendrite development hippocampus development cerebral cortex development establishment of cell polarity neuromuscular junction macromolecular complex regulation of cell adhesion mediated by integrin helper T cell diapedesis cellular response to drug reelin-mediated signaling pathway identical protein binding synapse retinoic acid receptor signaling pathway thymus development regulation of dendrite development T cell receptor signaling pathway parathyroid gland development cell chemotaxis pharynx development positive regulation of ERK1 and ERK2 cascade cellular response to transforming growth factor beta stimulus response to fibroblast growth factor endothelin receptor signaling pathway activation of GTPase activity acetylcholine receptor signaling pathway cerebellar neuron development cellular response to interleukin-7 extrinsic component of postsynaptic membrane positive regulation of substrate adhesion-dependent cell spreading positive regulation of glial cell migration regulation of skeletal muscle acetylcholine-gated channel clustering cranial skeletal system development regulation of T cell migration uc007ykv.1 uc007ykv.2 uc007ykv.3 uc007ykv.4 
ENSMUST00000006301.11 Lrwd1 ENSMUST00000006301.11 leucine-rich repeats and WD repeat domain containing 1 (from RefSeq NM_027891.4) D3Z2P9 ENSMUST00000006301.1 ENSMUST00000006301.10 ENSMUST00000006301.2 ENSMUST00000006301.3 ENSMUST00000006301.4 ENSMUST00000006301.5 ENSMUST00000006301.6 ENSMUST00000006301.7 ENSMUST00000006301.8 ENSMUST00000006301.9 LRWD1 LRWD1_MOUSE NM_027891 Orca Q3TIG2 Q8BKI3 Q8BUI3 Q9DBW4 uc008zzy.1 uc008zzy.2 uc008zzy.3 uc008zzy.4 Required for G1/S transition. Recruits and stabilizes the origin recognition complex (ORC) onto chromatin during G1 to establish pre-replication complex (preRC) and to heterochromatic sites in post- replicated cells. Binds a combination of DNA and histone methylation repressive marks on heterochromatin. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3 in a cooperative manner with DNA methylation (By similarity). Required for silencing of major satellite repeats. May be important ORC2, ORC3 and ORC4 stability. Integral component of the ORC complex (By similarity). Directly interacts with CDT1, GMNN and ORC2. Interacts with ORC2 only when non-ubiquitinated; this interaction prevents LRWD1 ubiquitination and degradation. Some of these interactions are regulated in a cell- cycle dependent manner. Interaction with ORC1 occurs predominantly during G1. Association with phosphorylated ORC1 during mitosis is not efficient. Interaction with CDT1 occurs during G1 phase, as well as during mitosis with phosphorylated CDT1. Interaction with GMNN occurs from G1/S to mitosis. Interaction with ORC2 is observed throughout the cell cycle. The stoichiometry of the ORCA/ORC/CDT1/GMNN complex is 1:1:1:2 (By similarity). Interacts with CUL4A and DDB1; this interaction may lead to ubiquitination (By similarity). Nucleus Chromosome, centromere Chromosome, telomere Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Chromosome, centromere, kinetochore Note=Localizes to heterochromatin during G1 phase. Restricted to centromeres or telomeres as cells progress though S phase. When cells enter mitosis, relocalizes to centromeres. Recruitment to pericentric heterochromatin largely depends on the presence of H3K9me3. Testis-specific. The entire WD repeat region is required for the interaction with ORC, CDT1 and GMNN, as well as for association with chromatin and for binding to histone H3 and H4 trimethylation marks H3K9me3 and H4K20me3 (By similarity). Centrosomal localization requires additional conformation. Ubiquitinated; undergoes 'Lys-48'-linked polyubiquitination leading to proteasomal degradation. Ubiquitination occurs within the WD repeats at the end of the G1 phase. Ubiquitination may be catalyzed by the CUL4-DDB1 E3 ubiquitin-protein ligase complex and other E3 ligases (By similarity). Belongs to the LRWD1 family. Reported to be testis-specific (PubMed:20180869). However the transcript is found in many tissues, suggesting that the protein is present in many tissues. Sequence=BAB23500.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence=; Sequence=BAC34810.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence=; chromosome, centromeric region kinetochore condensed chromosome kinetochore chromosome, telomeric region chromatin binding nucleus nuclear origin of replication recognition complex chromosome pericentric heterochromatin nucleolus cytoplasm microtubule organizing center cytoskeleton DNA replication chromatin organization methyl-CpG binding telomeric heterochromatin methylated histone binding intracellular membrane-bounded organelle establishment of protein localization to chromatin uc008zzy.1 uc008zzy.2 uc008zzy.3 uc008zzy.4 
ENSMUST00000006311.13 Tead4 ENSMUST00000006311.13 TEA domain family member 4, transcript variant 1 (from RefSeq NM_011567.2) A2BDD5 ENSMUST00000006311.1 ENSMUST00000006311.10 ENSMUST00000006311.11 ENSMUST00000006311.12 ENSMUST00000006311.2 ENSMUST00000006311.3 ENSMUST00000006311.4 ENSMUST00000006311.5 ENSMUST00000006311.6 ENSMUST00000006311.7 ENSMUST00000006311.8 ENSMUST00000006311.9 NM_011567 P70282 Q61174 Q61175 Q62296 Q62298 TEAD4_MOUSE Tcf13r1 Tef3 Tefr1 uc009ede.1 uc009ede.2 This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. This factor may play a role in the embryonic development of skeletal muscle. Alternatively spliced transcripts encoding distinct isoforms, which are translated through the use of a non-AUG (AUU) initiation codon, have been described for this gene. [provided by RefSeq, Jul 2008]. Transcription factor which plays a key role in the Hippo signaling pathway, a pathway involved in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein MST1/MST2, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Acts by mediating gene expression of YAP1 and WWTR1/TAZ, thereby regulating cell proliferation, migration and epithelial mesenchymal transition (EMT) induction. Binds specifically and non-cooperatively to the Sph and GT-IIC 'enhansons' (5'-GTGGAATGT-3') and activates transcription. Binds to the M-CAT motif (By similarity). Might play a role in the embryonic development of skeletal muscle. Interacts with WWTR1/TAZ (By similarity). Interacts with YAP1. Q62296; Q80V24: Vgll4; NbExp=3; IntAct=EBI-9253444, EBI-9253433; Q62296-1; Q99NC0: Vgll1; NbExp=4; IntAct=EBI-15985676, EBI-15985690; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=Long; Synonyms=TEFR1A, ETFR-2A; IsoId=Q62296-1; Sequence=Displayed; Name=Short; Synonyms=TEFR1B, ETFR-2B; IsoId=Q62296-2; Sequence=VSP_006390; Preferentially expressed in lung and in skeletal muscle. By FGF-1, FGF-2, calf serum, platelet-derived growth factor- BB, and phorbol 12-myristate 13-acetate. Sequence=AAB12488.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=AAB12488.1; Type=Miscellaneous discrepancy; Note=Unusual initiator. The initiator methionine is coded by a non-canonical ATA isoleucine codon.; Evidence=; RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding in utero embryonic development cell fate specification blastocyst formation trophectodermal cell fate commitment DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex cytoplasm transcription, DNA-templated regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter embryo implantation protein-DNA complex hippo signaling sequence-specific DNA binding transcription regulatory region DNA binding cell fate commitment positive regulation of transcription from RNA polymerase II promoter positive regulation of stem cell population maintenance uc009ede.1 uc009ede.2 
ENSMUST00000006341.4 Prss16 ENSMUST00000006341.4 serine protease 16 (thymus) (from RefSeq NM_019429.2) ENSMUST00000006341.1 ENSMUST00000006341.2 ENSMUST00000006341.3 NM_019429 Q9QXE5 TSSP_MOUSE Tssp uc007prz.1 uc007prz.2 uc007prz.3 Protease that may play a role in T-cell development. Cytoplasmic vesicle. Note=Vesicular, either lysosomal or endosomal. Expressed predominantly in cortical thymic epithelial cells, with highest expression around vessels and the thymic capsule. Expressed in developing thymus at 14 to 18 dpc, with maximal expression at 16 dpc. Belongs to the peptidase S28 family. lysosome endosome proteolysis peptidase activity serine-type peptidase activity dipeptidyl-peptidase activity hydrolase activity cytoplasmic vesicle uc007prz.1 uc007prz.2 uc007prz.3 
ENSMUST00000006353.14 Cdkal1 ENSMUST00000006353.14 CDK5 regulatory subunit associated protein 1-like 1, transcript variant 1 (from RefSeq NM_144536.4) CDKAL_MOUSE ENSMUST00000006353.1 ENSMUST00000006353.10 ENSMUST00000006353.11 ENSMUST00000006353.12 ENSMUST00000006353.13 ENSMUST00000006353.2 ENSMUST00000006353.3 ENSMUST00000006353.4 ENSMUST00000006353.5 ENSMUST00000006353.6 ENSMUST00000006353.7 ENSMUST00000006353.8 ENSMUST00000006353.9 NM_144536 Q3TE97 Q3V3D2 Q5T0I5 Q8C4B0 Q91WE6 Q9CT69 uc007pyn.1 uc007pyn.2 uc007pyn.3 uc007pyn.4 Catalyzes the methylthiolation of N6- threonylcarbamoyladenosine (t(6)A), leading to the formation of 2- methylthio-N6-threonylcarbamoyladenosine (ms(2)t(6)A) at position 37 in tRNAs that read codons beginning with adenine. Reaction=[sulfur carrier]-SH + AH2 + N(6)-L- threonylcarbamoyladenosine(37) in tRNA + 2 S-adenosyl-L-methionine = 2-methylsulfanyl-N(6)-L-threonylcarbamoyladenosine(37) in tRNA + 5'- deoxyadenosine + [sulfur carrier]-H + A + 2 H(+) + L-methionine + S- adenosyl-L-homocysteine; Xref=Rhea:RHEA:37075, Rhea:RHEA-COMP:10163, Rhea:RHEA-COMP:11092, Rhea:RHEA-COMP:14737, Rhea:RHEA-COMP:14739, ChEBI:CHEBI:13193, ChEBI:CHEBI:15378, ChEBI:CHEBI:17319, ChEBI:CHEBI:17499, ChEBI:CHEBI:29917, ChEBI:CHEBI:57844, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:64428, ChEBI:CHEBI:74418, ChEBI:CHEBI:74420; EC=2.8.4.5; Evidence=; Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Evidence=; Note=Binds 2 [4Fe-4S] clusters. One cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine. ; Endoplasmic reticulum membrane ; Single-pass membrane protein Note=Is a tail-anchored protein that exploits the TCR40 assisted pathway for insertion into the endoplasmic reticulum. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q91WE6-1; Sequence=Displayed; Name=2; IsoId=Q91WE6-2; Sequence=VSP_027460; Name=3; IsoId=Q91WE6-3; Sequence=VSP_027457; Name=4; IsoId=Q91WE6-4; Sequence=VSP_027456, VSP_027458, VSP_027459; Name=5; IsoId=Q91WE6-5; Sequence=VSP_027454, VSP_027455; Expressed in pancreas, liver and skeletal muscle, especially in white muscle fibers. Belongs to the methylthiotransferase family. CDKAL1 subfamily. catalytic activity endoplasmic reticulum endoplasmic reticulum membrane rough endoplasmic reticulum tRNA modification tRNA processing membrane integral component of membrane transferase activity methylthiotransferase activity N6-threonylcarbomyladenosine methylthiotransferase activity tRNA methylthiolation metal ion binding iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding tRNA (N(6)-L-threonylcarbamoyladenosine(37)-C(2))-methylthiotransferase maintenance of translational fidelity uc007pyn.1 uc007pyn.2 uc007pyn.3 uc007pyn.4 
ENSMUST00000006362.4 Rhox6 ENSMUST00000006362.4 reproductive homeobox 6 (from RefSeq NM_008955.1) ENSMUST00000006362.1 ENSMUST00000006362.2 ENSMUST00000006362.3 NM_008955 O70238 O70238_MOUSE Psx1 Rhox6 uc009szg.1 uc009szg.2 uc009szg.3 Nucleus DNA binding cellular_component nucleus biological_process uc009szg.1 uc009szg.2 uc009szg.3 
ENSMUST00000006367.8 Htra1 ENSMUST00000006367.8 HtrA serine peptidase 1 (from RefSeq NM_019564.3) ENSMUST00000006367.1 ENSMUST00000006367.2 ENSMUST00000006367.3 ENSMUST00000006367.4 ENSMUST00000006367.5 ENSMUST00000006367.6 ENSMUST00000006367.7 HTRA1_MOUSE Htra NM_019564 Prss11 Q8BN04 Q8BN05 Q91WS3 Q9QZK6 Q9R118 uc009kau.1 uc009kau.2 uc009kau.3 uc009kau.4 Serine protease with a variety of targets, including extracellular matrix proteins such as fibronectin. HTRA1-generated fibronectin fragments further induce synovial cells to up-regulate MMP1 and MMP3 production. May also degrade proteoglycans, such as aggrecan, decorin and fibromodulin. Through cleavage of proteoglycans, may release soluble FGF-glycosaminoglycan complexes that promote the range and intensity of FGF signals in the extracellular space. Regulates the availability of insulin-like growth factors (IGFs) by cleaving IGF- binding proteins. Inhibits signaling mediated by TGF-beta family members. This activity requires the integrity of the catalytic site, but it is unclear whether it leads to the proteolytic degradation of TGF-beta proteins themselves (PubMed:18551132) or not (PubMed:14973287). By acting on TGF-beta signaling, may regulate many physiological processes, including retinal angiogenesis and neuronal survival and maturation during development. Intracellularly, degrades TSC2, leading to the activation of TSC2 downstream targets. Forms homotrimers. In the presence of substrate, may form higher-order multimers in a PDZ-independent manner (By similarity). Interacts with TGF-beta family members, including BMP4, TGFB1, TGFB2, activin A and GDF5. Cell membrane Secreted Cytoplasm, cytosol Note=Predominantly secreted. Also found associated with the plasma membrane. In the brain, mainly expressed in cortical areas both in glial cells and neurons (at protein level). In bones, deposited in the matrix, with higher level in newly formed bone compared to fully calcified bone (at protein level). Also expressed in the tendons (at protein level). In the articular cartilage, detected only in the deepest zone of the joint cartilage. Not detected in the chondrocytes of the growth plate (at protein level). In an experimental arthritis model, at early disease stages, up-regulated in articular chondrocytes in the deep layers of the cartilage (at protein level). As arthritis progresses, chondrocyte expression expands toward the surface. First detected at 10.5 dpc. At 11.5 dpc, in the developing heart, expressed in the atrioventricular endocardial cushion and the outflow tract (at protein level). At 14.5 dpc, strong expression in the outflow tracts, including valves. In the developing skeleton, expressed at 12.5 dpc in the vertebral column and limbs. At 14.5 dpc, expressed in rudiments of tendons and ligaments along the vertebrae, as well as in mesenchymal cells surrounding precartilage condensations. Not detected in precartilage condensations, nor in chondrocytes, but strongly expressed in ossification centers. At 17.5 dpc, in the hind limb, significant expression persists in tendons and ligaments, but expression in the forming joints is reduced. At this stage, weakly detected in the thin layer of articular surfaces. Postnatally, in long bones, expressed by terminally differentiated hypertrophic chondrocytes that are committed to degeneration and eventually replaced by bone, as well as by osteoblasts at late differentiation stages and by mature osteocytes. In the developing brain, expressed in specific regions of the neuroepithelium in the forebrain and hindbrain adjacent to the forming choroid plexus. From 17.5 dpc till birth, expressed in neurogenic areas including ventricular zones (at protein level). At 12.5 and 14.5 dpc, expressed in Muellerian duct cells and in the surrounding mesenchyme in both male and female gonads. In the lung, detected in the mesenchymal cells. Expressed at 12.5 dpc in abdominal skin, both in epidermis and dermis. Also expressed in the epithelium of developing whiskers at 14.5 dpc. At later stages, localized in the basal layer of epidermis and in the invading epidermal cells that formed the whisker rudiments (at protein level). 9 days after birth, detected in the whisker outer root sheet (at protein level). The IGFBP N-terminal domain mediates interaction with TSC2 substrate. Mutants mice exhibit reduced retinal capillary density, as compared to wild type animals, in all 3 retinal layers, nerve fiber layer, as well as inner and outer plexiform layers. Belongs to the peptidase S1C family. placenta development serine-type endopeptidase activity protein binding insulin-like growth factor binding extracellular region extracellular space cytoplasm cytosol plasma membrane proteolysis peptidase activity serine-type peptidase activity membrane hydrolase activity growth factor binding negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of BMP signaling pathway identical protein binding positive regulation of epithelial cell proliferation negative regulation of defense response to virus chorionic trophoblast cell differentiation dentinogenesis uc009kau.1 uc009kau.2 uc009kau.3 uc009kau.4 
ENSMUST00000006377.13 Zbtb17 ENSMUST00000006377.13 zinc finger and BTB domain containing 17, transcript variant 1 (from RefSeq NM_009541.2) A2ADB9 ENSMUST00000006377.1 ENSMUST00000006377.10 ENSMUST00000006377.11 ENSMUST00000006377.12 ENSMUST00000006377.2 ENSMUST00000006377.3 ENSMUST00000006377.4 ENSMUST00000006377.5 ENSMUST00000006377.6 ENSMUST00000006377.7 ENSMUST00000006377.8 ENSMUST00000006377.9 NM_009541 Q60699 Q60821 ZBT17_MOUSE Zfp100 Znf151 uc008vol.1 uc008vol.2 uc008vol.3 uc008vol.4 Transcription factor that can function as an activator or repressor depending on its binding partners, and by targeting negative regulators of cell cycle progression. Has been shown to bind to the promoters of adenovirus major late protein and cyclin D1 and activate transcription. Required for early embryonic development during gastrulation. Plays a critical role in early lymphocyte development, where it is essential to prevent apoptosis in lymphoid precursors, allowing them to survive in response to IL7 and undergo proper lineage commitment. Represses RB1 transcription; this repression can be blocked by interaction with ZBTB49 (By similarity). Homooligomerizes (via the BTB/POZ domain), multimerization is required for DNA binding. Binds to the C-terminal helix-loop-helix motif of MYC which inhibits ZBTB17 transactivation and growth arrest activities and renders it insoluble in the nucleus. Also interacts with HCFC1, MAGEA4 and TMPRSS11A. Interacts (via the C-terminal zinc fingers) with GFI1; the interaction results in the recruitment of MYC to the CDKN1A/p21 and CDKN1B promoters and repression of transcription. Interacts with TRAF2, interfering with the binding of UBC13 to TRAF2, and inhibiting TRAF2 E3 ligase activity. Interacts with BCL6; the interaction inhibits ZBTB17 transactivation activity on target genes involved in cell cycle arrest. Interacts with ZBTB49; this interaction blocks ZBTB17-mediated repression of RB1 (By similarity). Q60821; Q07120: Gfi1; Xeno; NbExp=3; IntAct=EBI-11598394, EBI-4289236; Nucleus Found in all the embryonic and adult tissues examined. Expressed ubiquitously from early embryogenesis (6.5 dpc) to organogenesis, predominantly in neural and epithelial tissues. Undergoes 'Lys-48'-linked polyubiquitination at Lys-388 and Lys- 472 and subsequent proteasomal degradation in a TRAF2-dependent manner and upon TNFA stimulation. Mice produce inviable embryos which are severely retarded in early development and do not undergo normal gastrulation due to massive apoptosis of ectodermal cells around day 7.5. Belongs to the krueppel C2H2-type zinc-finger protein family. RNA polymerase II core promoter proximal region sequence-specific DNA binding core promoter binding transcription coactivator binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding gastrulation with mouth forming second nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus multicellular organism development ectoderm development transcription factor binding negative regulation of cell proliferation macromolecular complex protein-DNA complex positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding positive regulation of cell cycle arrest uc008vol.1 uc008vol.2 uc008vol.3 uc008vol.4 
ENSMUST00000006378.9 Clcnkb ENSMUST00000006378.9 chloride channel, voltage-sensitive Kb (from RefSeq NM_019701.2) A2ADB6 CLCKB_MOUSE Clckb Clcnk1l ENSMUST00000006378.1 ENSMUST00000006378.2 ENSMUST00000006378.3 ENSMUST00000006378.4 ENSMUST00000006378.5 ENSMUST00000006378.6 ENSMUST00000006378.7 ENSMUST00000006378.8 NM_019701 Q8VCF8 Q9WUB6 uc008voh.1 uc008voh.2 uc008voh.3 uc008voh.4 This gene is a member of the CLC family of voltage-gated chloride channels. The gene is located adjacent to a highly similar chloride channel gene on chromosome 4. This gene is syntenic with human CLCNKA (geneID:1187). [provided by RefSeq, Sep 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## RNAseq introns :: single sample supports all introns SAMN00849385 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport. May be important in urinary concentrating mechanisms. May be the basolateral chloride channel mediating net chloride absorption in CTAL cells. Interacts with BSND. Forms heteromers with BSND in the thick ascending limb of Henle and more distal segments. Cell membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9WUB6-1; Sequence=Displayed; Name=2; IsoId=Q9WUB6-2; Sequence=VSP_011757, VSP_011758; Specifically expressed in the kidney. All nephron segments expressing BSND also express CLCNK proreins. [Isoform 2]: Due to intron retention. Belongs to the chloride channel (TC 2.A.49) family. CLCNKB subfamily. voltage-gated ion channel activity voltage-gated chloride channel activity chloride channel activity protein binding plasma membrane integral component of plasma membrane ion transport chloride transport membrane integral component of membrane ion transmembrane transport chloride channel complex regulation of ion transmembrane transport identical protein binding metal ion binding transmembrane transport chloride transmembrane transport uc008voh.1 uc008voh.2 uc008voh.3 uc008voh.4 
ENSMUST00000006380.5 Fam131c ENSMUST00000006380.5 family with sequence similarity 131, member C (from RefSeq NM_001085513.2) A2ADB2 A2ADB2_MOUSE ENSMUST00000006380.1 ENSMUST00000006380.2 ENSMUST00000006380.3 ENSMUST00000006380.4 Fam131c Gm693 NM_001085513 uc008vod.1 uc008vod.2 uc008vod.3 uc008vod.4 Belongs to the FAM131 family. molecular_function cellular_component biological_process uc008vod.1 uc008vod.2 uc008vod.3 uc008vod.4 
ENSMUST00000006392.3 Serpinb9b ENSMUST00000006392.3 serine (or cysteine) peptidase inhibitor, clade B, member 9b (from RefSeq NM_011452.3) ENSMUST00000006392.1 ENSMUST00000006392.2 NM_011452 O08802 Q9DAV6 Q9DAV6_MOUSE Serpinb9b uc007qaa.1 uc007qaa.2 uc007qaa.3 uc007qaa.4 Belongs to the serpin family. Ov-serpin subfamily. T cell mediated cytotoxicity serine-type endopeptidase inhibitor activity protein binding extracellular space cytoplasm negative regulation of endopeptidase activity uc007qaa.1 uc007qaa.2 uc007qaa.3 uc007qaa.4 
ENSMUST00000006397.7 Epor ENSMUST00000006397.7 erythropoietin receptor, transcript variant 4 (from RefSeq NR_177941.1) ENSMUST00000006397.1 ENSMUST00000006397.2 ENSMUST00000006397.3 ENSMUST00000006397.4 ENSMUST00000006397.5 ENSMUST00000006397.6 Epor NR_177941 Q3UTV9 Q3UTV9_MOUSE uc009ond.1 uc009ond.2 uc009ond.3 Receptor for erythropoietin. Forms homodimers on EPO stimulation. Membrane Belongs to the type I cytokine receptor family. Type 1 subfamily. transmembrane signaling receptor activity cytokine receptor activity erythropoietin receptor activity membrane integral component of membrane cytokine-mediated signaling pathway erythropoietin-mediated signaling pathway identical protein binding uc009ond.1 uc009ond.2 uc009ond.3 
ENSMUST00000006403.7 Ccdc159 ENSMUST00000006403.7 coiled-coil domain containing 159, transcript variant 2 (from RefSeq NM_025977.3) CC159_MOUSE ENSMUST00000006403.1 ENSMUST00000006403.2 ENSMUST00000006403.3 ENSMUST00000006403.4 ENSMUST00000006403.5 ENSMUST00000006403.6 NM_025977 Q0VBB7 Q8C963 Q9CXZ5 Q9D4W5 uc009omx.1 uc009omx.2 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8C963-1; Sequence=Displayed; Name=2; IsoId=Q8C963-2; Sequence=VSP_033427; Name=3; IsoId=Q8C963-3; Sequence=VSP_033428, VSP_033429; molecular_function cellular_component biological_process uc009omx.1 uc009omx.2 
ENSMUST00000006424.8 Mob1b ENSMUST00000006424.8 MOB kinase activator 1B (from RefSeq NM_026735.2) ENSMUST00000006424.1 ENSMUST00000006424.2 ENSMUST00000006424.3 ENSMUST00000006424.4 ENSMUST00000006424.5 ENSMUST00000006424.6 ENSMUST00000006424.7 MOB1B_MOUSE Mobkl1a NM_026735 Q8BPB0 uc008yaf.1 uc008yaf.2 uc008yaf.3 Activator of LATS1/2 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Stimulates the kinase activity of STK38L (By similarity). Binds STK38L. Interacts with LATS1 and LATS2 (By similarity). Cytoplasm Nucleus Phosphorylated by STK3/MST2 and STK4/MST1 and this phosphorylation enhances its binding to LATS1. Belongs to the MOB1/phocein family. nucleus nucleolus cytoplasm cytosol kinase activator activity kinase binding regulation of protein autophosphorylation positive regulation of kinase activity hippo signaling metal ion binding uc008yaf.1 uc008yaf.2 uc008yaf.3 
ENSMUST00000006431.8 Atp6v1b1 ENSMUST00000006431.8 ATPase, H+ transporting, lysosomal V1 subunit B1 (from RefSeq NM_134157.3) Atp6b1 ENSMUST00000006431.1 ENSMUST00000006431.2 ENSMUST00000006431.3 ENSMUST00000006431.4 ENSMUST00000006431.5 ENSMUST00000006431.6 ENSMUST00000006431.7 NM_134157 Q6P6I3 Q8C3L6 Q91YH6 VATB1_MOUSE uc009coc.1 uc009coc.2 uc009coc.3 Non-catalytic subunit of the V1 complex of vacuolar(H+)- ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:16174750, PubMed:23028982). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Essential for the proper assembly and activity of V-ATPase (By similarity). In renal intercalated cells, mediates secretion of protons (H+) into the urine thereby ensuring correct urinary acidification (PubMed:16174750). Required for optimal olfactory function by mediating the acidification of the nasal olfactory epithelium (PubMed:23028982). V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex (By similarity). The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H (By similarity). The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c'', rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR (By similarity). Forms a complex with NHERF1 and SCL4A7 (By similarity). Apical cell membrane Basolateral cell membrane Highly expressed in the kidney; found in early distal nephron, encompassing thick ascending limbs and distal convoluted tubules and in the alpha-intercalated cells of the cortical collecting ducts (at protein level) (PubMed:14585495, PubMed:29993276). Expressed in the olfactory epithelium (at protein level) (PubMed:23028982). Expressed at lower levels in the testis (PubMed:14585495). The PDZ-binding motif mediates interactions with NHERF1 and SCL4A7. Mice show a higher urinary pH and a more severe metabolic acidosis after oral acid challenge in comparison to wild-type littermates (PubMed:16174750). Mice show diminished innate avoidance behavior (revealed as a decrease in freezing time and an increase in the number of sniffs in the presence of trimethyl-thiazoline) and diminished innate appetitive behavior (a decrease in time spent investigating the urine of the opposite sex) (PubMed:23028982). Belongs to the ATPase alpha/beta chains family. ossification renal water homeostasis renal sodium ion transport ATP binding cytoplasm cytosol microvillus prostaglandin metabolic process ion transport regulation of pH excretion sensory perception of sound synaptic vesicle regulation of gene expression hydrogen ion transmembrane transporter activity membrane basolateral plasma membrane apical plasma membrane lateral plasma membrane vacuolar proton-transporting V-type ATPase complex adult behavior proton-transporting V-type ATPase, V1 domain renal sodium excretion olfactory behavior macromolecular complex binding pH reduction ATP metabolic process chloride ion homeostasis calcium ion homeostasis potassium ion homeostasis extrinsic component of synaptic vesicle membrane hydrogen ion transmembrane transport inner ear morphogenesis uc009coc.1 uc009coc.2 uc009coc.3 
ENSMUST00000006435.8 Atp6v1b2 ENSMUST00000006435.8 ATPase, H+ transporting, lysosomal V1 subunit B2 (from RefSeq NM_007509.3) Atp6b2 ENSMUST00000006435.1 ENSMUST00000006435.2 ENSMUST00000006435.3 ENSMUST00000006435.4 ENSMUST00000006435.5 ENSMUST00000006435.6 ENSMUST00000006435.7 NM_007509 O09045 P50517 P62814 Q3TG74 Q3TL62 Q3TVK6 Q3TWR0 Q3U791 Q3U7C8 Q3U9Z0 Q3UAW7 VATB2_MOUSE Vat2 uc009lwx.1 uc009lwx.2 uc009lwx.3 uc009lwx.4 uc009lwx.5 Non-catalytic subunit of the V1 complex of vacuolar(H+)- ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:17898041). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). In renal intercalated cells, can partially compensate the lack of ATP6V1B1 and mediate secretion of protons (H+) into the urine under base-line conditions but not in conditions of acid load (PubMed:17898041). V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex (By similarity). The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H (By similarity). The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c'', rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR (By similarity). Apical cell membrane lanosome Cytoplasm toplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Peripheral membrane protein Cytoplasmic vesicle, clathrin-coated vesicle membrane ; Peripheral membrane protein Kidney; found in early distal nephron, encompassing thick ascending limbs and distal convoluted tubules and in the alpha- intercalated cells of the cortical collecting ducts (at protein level) (PubMed:16174750, PubMed:29993276, PubMed:17898041, PubMed:15013950). Expressed in epididymal clear cells (at protein level) (PubMed:15013950). Mainly expressed in the organ of Corti and spiral ganglion neurons, in both the early postnatal cochlea (P2) and the adult cochlea (P30) (PubMed:24913193). Morpholino knockdown in the whole cochlea, especially in hair cells and spiral ganglion neurons causes a dose- dependent hearing loss. Belongs to the ATPase alpha/beta chains family. Sequence=BAE30303.1; Type=Erroneous initiation; Evidence=; Sequence=BAE30526.1; Type=Erroneous initiation; Evidence=; Sequence=BAE31441.1; Type=Erroneous initiation; Evidence=; ruffle ATP binding cytoplasm cytosol plasma membrane microvillus ion transport endomembrane system membrane integral component of membrane apical plasma membrane hydrolase activity proton-transporting V-type ATPase, V1 domain melanosome myelin sheath intracellular membrane-bounded organelle ATP metabolic process hydrogen ion transmembrane transport uc009lwx.1 uc009lwx.2 uc009lwx.3 uc009lwx.4 uc009lwx.5 
ENSMUST00000006444.9 Tep1 ENSMUST00000006444.9 telomerase associated protein 1 (from RefSeq NM_009351.2) ENSMUST00000006444.1 ENSMUST00000006444.2 ENSMUST00000006444.3 ENSMUST00000006444.4 ENSMUST00000006444.5 ENSMUST00000006444.6 ENSMUST00000006444.7 ENSMUST00000006444.8 NM_009351 P97499 TEP1_MOUSE Tp1 uc007tlt.1 uc007tlt.2 uc007tlt.3 Component of the telomerase ribonucleoprotein complex that is essential for the replication of chromosome termini (By similarity). Also a component of the ribonucleoprotein vaults particle, a multi- subunit structure involved in nucleo-cytoplasmic transport (PubMed:11149928). Responsible for the localizing and stabilizing vault RNA (vRNA) association in the vault ribonucleoprotein particle (PubMed:11149928). Associated component of the telomerase holoenzyme complex (By similarity). Component of the vault ribonucleoprotein particle, at least composed of MVP, PARP4 and one or more vault RNAs (vRNAs) (PubMed:11149928, PubMed:9020079). Binds to VAULTRC1, VAULTRC2 and VAULTRC4/hvg4 vRNAs (PubMed:11149928, PubMed:9020079). Nucleus Chromosome, telomere. Ubiquitous. nucleotide binding telomere maintenance via recombination chromosome, telomeric region p53 binding telomerase activity RNA binding ATP binding nucleus chromosome telomerase holoenzyme complex cytoplasm RNA-dependent DNA biosynthetic process nuclear matrix enzyme binding telomerase RNA binding ribonucleoprotein complex telomere maintenance via telomerase uc007tlt.1 uc007tlt.2 uc007tlt.3 
ENSMUST00000006451.8 Ttc5 ENSMUST00000006451.8 tetratricopeptide repeat domain 5, transcript variant 3 (from RefSeq NM_001360545.1) ENSMUST00000006451.1 ENSMUST00000006451.2 ENSMUST00000006451.3 ENSMUST00000006451.4 ENSMUST00000006451.5 ENSMUST00000006451.6 ENSMUST00000006451.7 NM_001360545 Q3TTN5 Q3TZL6 Q99LG4 Strap TTC5_MOUSE Ttc5 uc007tlm.1 uc007tlm.2 uc007tlm.3 uc007tlm.4 Cofactor involved in the regulation of various cellular mechanisms such as actin regulation, autophagy, chromatin regulation and DNA repair (PubMed:11511361, PubMed:15448695, PubMed:18451878, PubMed:30420355). In physiological conditions, interacts with cofactor JMY in the cytoplasm which prevents JMY's actin nucleation activity and ability to activate the Arp2/3 complex (PubMed:30420355). Acts as a negative regulator of nutrient stress-induced autophagy by inhibiting JMY's interaction with MAP1LC3B, thereby preventing autophagosome formation (PubMed:30420355). Involves in tubulin autoregulation by promoting its degradation in response to excess soluble tubulin (By similarity). To do so, associates with the active ribosome near the ribosome exit tunnel and with nascent tubulin polypeptides early during their translation, triggering tubulin mRNA-targeted degradation (By similarity). Following DNA damage, phosphorylated by DNA damage responsive protein kinases ATM and CHEK2, leading to its nuclear accumulation and stability (PubMed:15448695, PubMed:18833288). Nuclear TTC5/STRAP promotes the assembly of a stress-responsive p53/TP53 coactivator complex, which includes the coactivators JMY and p300, thereby increasing p53/TP53-dependent transcription and apoptosis (PubMed:11511361). Also recruits arginine methyltransferase PRMT5 to p53/TP53 when DNA is damaged, allowing PRMT5 to methylate p53/TP53 (PubMed:19011621). In DNA stress conditions, also prevents p53/TP53 degradation by E3 ubiquitin ligase MDM2 (PubMed:11511361). Upon heat- shock stress, forms a chromatin-associated complex with heat-shock factor 1 HSF1 and p300/EP300 to stimulate heat-shock-responsive transcription, thereby increasing cell survival (PubMed:18451878). Mitochondrial TTC5/STRAP interacts with ATP synthase subunit beta ATP5F1B which decreased ATP synthase activity and lowers mitochondrial ATP production, thereby regulating cellular respiration and mitochondrial-dependent apoptosis (PubMed:25168243). Mitochondrial TTC5/STRAP also regulates p53/TP53-mediated apoptosis (PubMed:25168243). Interacts with JMY and p300/EP300; the interaction occurs in the nucleus and augments the association between JMY and p300/EP300 in response to DNA damage (PubMed:11511361, PubMed:15448695). Interacts with PRMT5; the interaction is DNA damage-dependent and promotes PRMT5 interaction with p53/TP53 and subsequent methylation (PubMed:19011621). Forms a complex with HSF1 and p300/EP300; these interactions augment chromatin-bound HSF1 and p300/EP300 histone acetyltransferase activity, resulting in enhanced heat-shock-responsive transcription (PubMed:18451878). Interacts with JMY; the interaction occurs in the cytoplasm and results in the inhibition of JYM's nucleation activity (PubMed:30420355). Interacts with ribosome-coding tubulin (via 60S subunit 28S rRNA and protein uL24/RPL26) and the N-terminal of nascent tubulin polypeptide (via alpha-tubulin MREC motif and beta-tubulin MREI motif); these interactions result in tubulin mRNA-targeted degradation (By similarity). Interacts with ATP5F1B; the interaction occurs in the mitochondria and results in ATP production decrease (PubMed:25168243). Interacts with p53/TP53; the interaction occurs in the mitochondria and results in increased apoptosis (PubMed:25168243). Q99LG4; Q3UA06: Trip13; NbExp=2; IntAct=EBI-21183045, EBI-308990; Nucleus toplasm toplasmic vesicle Mitochondrion matrix Note=Phosphorylation at Ser-203 results in nuclear localization, while unphosphorylated protein localizes to the cytoplasm (PubMed:15448695). Nuclear localization may be necessary for DNA damage-dependent stabilization of the protein (PubMed:15448695, PubMed:18833288). Expressed in heart, brain, spleen, lung, liver, skeletal muscle, kidney and testis. Stress-responsive protein (PubMed:11511361, PubMed:18833288). Induced upon UV or ionizing irradiation (at protein level) (PubMed:11511361). Induced upon heat-shock stress (at protein level) (PubMed:18451878). The tetratricopep-repeat (TPR) motifs may function as protein interaction domains. Phosphorylation by ATM kinase induces nuclear accumulation while interfering with nuclear export, and phosphorylation by CHEK2 kinase enhances nuclear stability. DNA binding chromatin binding protein binding nucleus nucleoplasm cytoplasm DNA repair cellular response to DNA damage stimulus positive regulation of transcription from RNA polymerase II promoter uc007tlm.1 uc007tlm.2 uc007tlm.3 uc007tlm.4 
ENSMUST00000006462.14 Aamp ENSMUST00000006462.14 angio-associated migratory protein, transcript variant 2 (from RefSeq NM_146110.3) Aamp ENSMUST00000006462.1 ENSMUST00000006462.10 ENSMUST00000006462.11 ENSMUST00000006462.12 ENSMUST00000006462.13 ENSMUST00000006462.2 ENSMUST00000006462.3 ENSMUST00000006462.4 ENSMUST00000006462.5 ENSMUST00000006462.6 ENSMUST00000006462.7 ENSMUST00000006462.8 ENSMUST00000006462.9 NM_146110 Q3TJ22 Q3TJ22_MOUSE uc007blr.1 uc007blr.2 uc007blr.3 cytosol heparin binding cell surface microtubule cytoskeleton ribosomal large subunit biogenesis intercellular bridge unfolded protein binding uc007blr.1 uc007blr.2 uc007blr.3 
ENSMUST00000006476.6 Upk1a ENSMUST00000006476.6 uroplakin 1A (from RefSeq NM_026815.2) ENSMUST00000006476.1 ENSMUST00000006476.2 ENSMUST00000006476.3 ENSMUST00000006476.4 ENSMUST00000006476.5 NM_026815 Q9D132 UPK1A_MOUSE uc009gfk.1 uc009gfk.2 uc009gfk.3 uc009gfk.4 Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in normal bladder epithelial physiology, possibly in regulating membrane permeability of superficial umbrella cells or in stabilizing the apical membrane through AUM/cytoskeletal interactions (By similarity). Homodimer; disulfide-linked. Interacts with uroplakin-2 (UPK2) (By similarity). Binds to uropathogenic E.coli fimH. Membrane; Multi-pass membrane protein. Belongs to the tetraspanin (TM4SF) family. protein binding endoplasmic reticulum plasma membrane integral component of plasma membrane cell surface membrane integral component of membrane apical plasma membrane epithelial cell differentiation protein homodimerization activity protein oligomerization uc009gfk.1 uc009gfk.2 uc009gfk.3 uc009gfk.4 
ENSMUST00000006478.10 Tmem147 ENSMUST00000006478.10 transmembrane protein 147 (from RefSeq NM_027215.2) ENSMUST00000006478.1 ENSMUST00000006478.2 ENSMUST00000006478.3 ENSMUST00000006478.4 ENSMUST00000006478.5 ENSMUST00000006478.6 ENSMUST00000006478.7 ENSMUST00000006478.8 ENSMUST00000006478.9 NM_027215 Q8CI89 Q9CQG6 Q9D8F0 TM147_MOUSE Tmem147 uc009gga.1 uc009gga.2 uc009gga.3 Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes. The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions. Also acts as a negative regulator of CHRM3 function, most likely by interfering with its trafficking to the cell membrane. Negatively regulates CHRM3-mediated calcium mobilization and activation of RPS6KA1/p90RSK activity. Regulates LBR localization to the nucleus inner membrane. Component of the back of Sec61 (BOS) complex, composed of NCLN/Nicalin, NOMO (NOMO1, NOMO2 or NOMO3) and TMEM147. The BOS complex is part of the multi-pass translocon (MPT) complex, composed of three subcomplexes, the GEL complex (composed of RAB5IF/OPTI and TMCO1), the BOS complex (composed of NCLN/Nicalin, NOMO and TMEM147) and the PAT complex (composed of WDR83OS/Asterix and CCDC47). The MPT complex associates with the SEC61 complex. Interacts with CHRM3, CHRM1 and AVPR2. Interacts with LBR; promoting LBR localization to the nucleus inner membrane. Interacts with DHCR7. Endoplasmic reticulum membrane ; Multi-pass membrane protein Nucleus membrane ; Multi- pass membrane protein Cell membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CQG6-1; Sequence=Displayed; Name=2; IsoId=Q9CQG6-2; Sequence=VSP_022328, VSP_022329; Expressed in cerebral cortex, submandibular gland, hypothalamus, pancreas, liver, and ileum. Belongs to the TMEM147 family. Sequence=BAB25453.1; Type=Frameshift; Evidence=; molecular_function endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane macromolecular complex uc009gga.1 uc009gga.2 uc009gga.3 
ENSMUST00000006496.15 Rps9 ENSMUST00000006496.15 ribosomal protein S9, transcript variant 1 (from RefSeq NM_029767.3) ENSMUST00000006496.1 ENSMUST00000006496.10 ENSMUST00000006496.11 ENSMUST00000006496.12 ENSMUST00000006496.13 ENSMUST00000006496.14 ENSMUST00000006496.2 ENSMUST00000006496.3 ENSMUST00000006496.4 ENSMUST00000006496.5 ENSMUST00000006496.6 ENSMUST00000006496.7 ENSMUST00000006496.8 ENSMUST00000006496.9 NM_029767 Q3UBF1 Q6ZWN5 Q8K2D1 RS9_MOUSE uc009ewa.1 uc009ewa.2 uc009ewa.3 Component of the small ribosomal subunit (PubMed:36517592). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:36517592). Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome (By similarity). Component of the small ribosomal subunit (PubMed:36517592). Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs (By similarity). Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3 (By similarity). Cytoplasm Nucleus, nucleolus Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Belongs to the universal ribosomal protein uS4 family. RNA binding structural constituent of ribosome nucleolus cytoplasm ribosome translation positive regulation of cell proliferation small ribosomal subunit rRNA binding cytosolic small ribosomal subunit translation regulator activity synapse positive regulation of translational fidelity ribonucleoprotein complex 5.8S rRNA binding uc009ewa.1 uc009ewa.2 uc009ewa.3 
ENSMUST00000006523.12 Crip1 ENSMUST00000006523.12 cysteine-rich protein 1 (from RefSeq NM_007763.3) CRIP1_MOUSE Crip ENSMUST00000006523.1 ENSMUST00000006523.10 ENSMUST00000006523.11 ENSMUST00000006523.2 ENSMUST00000006523.3 ENSMUST00000006523.4 ENSMUST00000006523.5 ENSMUST00000006523.6 ENSMUST00000006523.7 ENSMUST00000006523.8 ENSMUST00000006523.9 NM_007763 P04006 P63254 Q3THF0 uc007pfz.1 uc007pfz.2 uc007pfz.3 Seems to have a role in zinc absorption and may function as an intracellular zinc transport protein. AT DNA binding cytoplasm zinc ion binding DNA binding, bending intrinsic apoptotic signaling pathway in response to DNA damage response to zinc ion regulation of gene expression peptide binding metal ion binding cellular response to antibiotic cellular response to UV-B uc007pfz.1 uc007pfz.2 uc007pfz.3 
ENSMUST00000006544.9 Gcat ENSMUST00000006544.9 glycine C-acetyltransferase (2-amino-3-ketobutyrate-coenzyme A ligase), transcript variant 1 (from RefSeq NM_013847.4) ENSMUST00000006544.1 ENSMUST00000006544.2 ENSMUST00000006544.3 ENSMUST00000006544.4 ENSMUST00000006544.5 ENSMUST00000006544.6 ENSMUST00000006544.7 ENSMUST00000006544.8 KBL_MOUSE Kbl NM_013847 O88986 uc007wse.1 uc007wse.2 uc007wse.3 uc007wse.4 Pyridoxal phosphate (PLP) dependent enzyme, which catalyzes the cleavage of 2-amino-3-oxobutanoate to glycine and acetyl-CoA. Catalyzes the second reaction step on the main metabolic degradation pathway for L-threonine. Reaction=acetyl-CoA + glycine = (2S)-2-amino-3-oxobutanoate + CoA; Xref=Rhea:RHEA:20736, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57305, ChEBI:CHEBI:78948; EC=2.3.1.29; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:20738; Evidence=; Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326; Evidence=; Amino-acid degradation; L-threonine degradation via oxydo- reductase pathway; glycine from L-threonine: step 2/2. Mitochondrion Nucleus Note=Translocates to the nucleus upon cold and osmotic stress. Present in the placenta, brain and liver during embryonic development (at protein level). No visible phenotype. Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. molecular_function catalytic activity nucleus nucleoplasm mitochondrion mitochondrial inner membrane threonine catabolic process biological_process glycine C-acetyltransferase activity biosynthetic process nuclear speck transferase activity transferase activity, transferring acyl groups L-threonine catabolic process to glycine pyridoxal phosphate binding uc007wse.1 uc007wse.2 uc007wse.3 uc007wse.4 
ENSMUST00000006556.11 Mpl ENSMUST00000006556.11 myeloproliferative leukemia virus oncogene, transcript variant 1 (from RefSeq NM_001122949.3) A2A9D4 A2A9D4_MOUSE ENSMUST00000006556.1 ENSMUST00000006556.10 ENSMUST00000006556.2 ENSMUST00000006556.3 ENSMUST00000006556.4 ENSMUST00000006556.5 ENSMUST00000006556.6 ENSMUST00000006556.7 ENSMUST00000006556.8 ENSMUST00000006556.9 Mpl NM_001122949 uc012djy.1 uc012djy.2 uc012djy.3 uc012djy.4 Belongs to the type I cytokine receptor family. Type 1 subfamily. neutrophil homeostasis cytokine receptor activity Golgi apparatus plasma membrane cell surface membrane integral component of membrane cytokine-mediated signaling pathway monocyte homeostasis thrombopoietin-mediated signaling pathway thrombopoietin receptor activity neuron projection neuronal cell body positive regulation of lymphocyte proliferation platelet aggregation cellular response to hypoxia positive regulation of platelet formation eosinophil homeostasis basophil homeostasis uc012djy.1 uc012djy.2 uc012djy.3 uc012djy.4 
ENSMUST00000006557.13 Elovl1 ENSMUST00000006557.13 ELOVL fatty acid elongase 1, transcript variant 2 (from RefSeq NM_019422.4) ELOV1_MOUSE ENSMUST00000006557.1 ENSMUST00000006557.10 ENSMUST00000006557.11 ENSMUST00000006557.12 ENSMUST00000006557.2 ENSMUST00000006557.3 ENSMUST00000006557.4 ENSMUST00000006557.5 ENSMUST00000006557.6 ENSMUST00000006557.7 ENSMUST00000006557.8 ENSMUST00000006557.9 Elovl1 NM_019422 Q9D1B2 Q9JLJ5 Ssc1 uc008ujz.1 uc008ujz.2 uc008ujz.3 uc008ujz.4 Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that exhibits activity toward saturated and monounsaturated acyl-CoA substrates, with the highest activity towards C22:0 acyl-CoA. May participate in the production of both saturated and monounsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Important for saturated C24:0 and monounsaturated C24:1 sphingolipid synthesis. Indirectly inhibits RPE65 via production of VLCFAs. Reaction=a very-long-chain acyl-CoA + H(+) + malonyl-CoA = a very-long- chain 3-oxoacyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:32727, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:90725, ChEBI:CHEBI:90736; EC=2.3.1.199; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:32728; Evidence=; Reaction=eicosanoyl-CoA + H(+) + malonyl-CoA = 3-oxodocosanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:35327, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380, ChEBI:CHEBI:57384, ChEBI:CHEBI:71451; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:35328; Evidence=; Reaction=docosanoyl-CoA + H(+) + malonyl-CoA = 3-oxotetracosanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36507, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:65059, ChEBI:CHEBI:73977; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36508; Evidence=; Reaction=H(+) + malonyl-CoA + tetracosanoyl-CoA = 3-oxohexacosanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36515, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:65052, ChEBI:CHEBI:73980; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36516; Evidence=; Reaction=(11Z)-eicosenoyl-CoA + H(+) + malonyl-CoA = (13Z)-3- oxodocosenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36527, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74069, ChEBI:CHEBI:74070; Evidence=; Reaction=(13Z)-docosenoyl-CoA + H(+) + malonyl-CoA = (15Z)-3- oxotetracosenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36531, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74068, ChEBI:CHEBI:74071; Evidence=; Lipid metabolism; fatty acid biosynthesis. Interacts with LASS2, TECR and HSD17B12. Endoplasmic reticulum membrane ; Multi-pass membrane protein Expressed in a broad variety of tissues. Highly expressed in stomach, lung, kidney, skin and intestine. Moderately expressed in white adipose tissue, liver, spleen, brain, brown adipose tissue, heart and muscle. Weakly expressed in testis. The C-terminal di-lysine motif may confer endoplasmic reticulum localization. Homozygous knockout mice die within one day after birth (PubMed:23689133). Death is caused by a skin barrier deficiency and excessive water loss that are associated with impaired formation of lipid lamellae in the stratum corneum (PubMed:23689133). In the epidermis, the levels of ceramides with fatty acid chains containing more than 26 carbons are decreased, while the levels of ceramides with less than 24 carbons are increased (PubMed:23689133). Belongs to the ELO family. ELOVL1 subfamily. The substrate specificity could be slightly different compared to human ELOVL1, AC Q9BW60. No activity toward octadecanoyl-CoA, for instance, is observed in vivo (PubMed:23689133). endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process unsaturated fatty acid biosynthetic process fatty acid elongase activity membrane integral component of membrane transferase activity fatty acid elongation, saturated fatty acid sphingolipid biosynthetic process integral component of endoplasmic reticulum membrane fatty acid elongation, monounsaturated fatty acid fatty acid elongation, polyunsaturated fatty acid long-chain fatty-acyl-CoA biosynthetic process very long-chain fatty acid biosynthetic process ceramide biosynthetic process establishment of skin barrier 3-oxo-arachidoyl-CoA synthase activity 3-oxo-cerotoyl-CoA synthase activity 3-oxo-lignoceronyl-CoA synthase activity uc008ujz.1 uc008ujz.2 uc008ujz.3 uc008ujz.4 
ENSMUST00000006559.14 Tpbg ENSMUST00000006559.14 trophoblast glycoprotein, transcript variant 1 (from RefSeq NM_011627.4) 5t4 ENSMUST00000006559.1 ENSMUST00000006559.10 ENSMUST00000006559.11 ENSMUST00000006559.12 ENSMUST00000006559.13 ENSMUST00000006559.2 ENSMUST00000006559.3 ENSMUST00000006559.4 ENSMUST00000006559.5 ENSMUST00000006559.6 ENSMUST00000006559.7 ENSMUST00000006559.8 ENSMUST00000006559.9 NM_011627 Q3UPI2 Q6PE98 Q8BQA4 Q9Z0L0 TPBG_MOUSE uc009qwz.1 uc009qwz.2 uc009qwz.3 uc009qwz.4 May function as an inhibitor of Wnt/beta-catenin signaling by indirectly interacting with LRP6 and blocking Wnt3a-dependent LRP6 internalization. Cell membrane ; Single-pass type I membrane protein Highly expressed in embryo and placenta. In adult, expressed only in brain and ovary. Not detected in kidney small intestine, heart, spleen, testis, liver, lung, thymus and stomach. The C-terminus of LRR N-terminal cap (LRRNT) and LRR 1 are essential for the inhibition of the Wnt signaling pathway. Highly glycosylated. cytoplasm endoplasmic reticulum plasma membrane membrane integral component of membrane positive regulation of synapse assembly uc009qwz.1 uc009qwz.2 uc009qwz.3 uc009qwz.4 
ENSMUST00000006565.13 Cdc20 ENSMUST00000006565.13 cell division cycle 20 (from RefSeq NM_023223.2) CDC20_MOUSE ENSMUST00000006565.1 ENSMUST00000006565.10 ENSMUST00000006565.11 ENSMUST00000006565.12 ENSMUST00000006565.2 ENSMUST00000006565.3 ENSMUST00000006565.4 ENSMUST00000006565.5 ENSMUST00000006565.6 ENSMUST00000006565.7 ENSMUST00000006565.8 ENSMUST00000006565.9 NM_023223 Q3TGP1 Q8BPG4 Q99LK3 Q9JJ66 uc008ukc.1 uc008ukc.2 uc008ukc.3 uc008ukc.4 Involved in the metaphase/anaphase transition of cell cycle (PubMed:32666501). Required for full ubiquitin ligase activity of the anaphase promoting complex/cyclosome (APC/C) and may confer substrate specificity upon the complex. Is regulated by MAD2L1: in metaphase the MAD2L1-CDC20-APC/C ternary complex is inactive and in anaphase the CDC20-APC/C binary complex is active in degrading substrates. The CDC20-APC/C complex positively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. CDC20-APC/C-induced degradation of NEUROD2 induces presynaptic differentiation. The CDC20-APC/C complex promotes proper dilation formation and radial migration by degrading CCDC41 (PubMed:34298015). Protein modification; protein ubiquitination. Component of a complex with CDC20, CDC27, SPATC1 and TUBG1 (PubMed:15280373). Interacts with NEUROD2 (PubMed:19900895). Interacts with dimeric MAD2L1 in its closed conformation form (By similarity). Interacts with BUB1B (By similarity). The phosphorylated form interacts with APC/C (By similarity). Interacts with NINL (By similarity). May interact with MAD2L2 (By similarity). Interacts with CDK5RAP2 (By similarity). Interacts with SIRT2 (PubMed:22014574). Interacts with isoform 1 of NEK2 (By similarity). Interacts with HSF1 (via phosphorylated form); this interaction occurs in mitosis in a MAD2L1- dependent manner and prevents PLK1-stimulated degradation of HSF1 by blocking the recruitment of the SCF(BTRC) ubiquitin ligase complex (By similarity). Interacts (via the N-terminal substrate-binding domain) with FBXO5 (PubMed:15526037). Interacts with CCNF (By similarity). Q9JJ66; Q8CDI2: Fbxo43; NbExp=2; IntAct=EBI-2551389, EBI-8060482; Q9JJ66; Q8VDQ8: Sirt2; NbExp=2; IntAct=EBI-2551389, EBI-911012; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Chromosome, centromere, kinetochore Cytoplasm, cytoskeleton, spindle pole Acetylated. Deacetylated at Lys-66 by SIRT2; deacetylation enhances the interaction of CDC20 with CDC27, leading to activation of anaphase promoting complex/cyclosome (APC/C). Phosphorylated during mitosis (By similarity). Phosphorylated by BUB1 at Ser-41; Ser-72; Ser-92; Ser-153; Thr-157 and Ser-161 (By similarity). Phosphorylated by NEK2 (By similarity). Dephosphorylated by CTDP1. Ubiquitinated and degraded by the proteasome during spindle assembly checkpoint. Ubiquitinated at Lys-490 during prometaphase. Ubiquitination at Lys-485 and Lys-490 has no effect on its ability to bind the APC/C complex (By similarity). Belongs to the WD repeat CDC20/Fizzy family. spindle pole protein binding nucleus nucleoplasm anaphase-promoting complex cytoplasm centrosome microtubule organizing center cytosol cytoskeleton cell cycle mitotic sister chromatid cohesion nervous system development protein C-terminus binding positive regulation of cell proliferation anaphase-promoting complex binding protein ubiquitination enzyme binding cell differentiation anaphase-promoting complex-dependent catabolic process positive regulation of synaptic plasticity macromolecular complex regulation of meiotic nuclear division histone deacetylase binding perinuclear region of cytoplasm regulation of dendrite development cell division positive regulation of synapse maturation mitotic spindle assembly ubiquitin-protein transferase activator activity positive regulation of ubiquitin protein ligase activity uc008ukc.1 uc008ukc.2 uc008ukc.3 uc008ukc.4 
ENSMUST00000006578.10 Nectin4 ENSMUST00000006578.10 nectin cell adhesion molecule 4, transcript variant 1 (from RefSeq NM_027893.3) ENSMUST00000006578.1 ENSMUST00000006578.2 ENSMUST00000006578.3 ENSMUST00000006578.4 ENSMUST00000006578.5 ENSMUST00000006578.6 ENSMUST00000006578.7 ENSMUST00000006578.8 ENSMUST00000006578.9 Lnir NECT4_MOUSE NM_027893 Nectin4 Prr4 Pvrl4 Q3U318 Q8CED8 Q8R007 Q9DBP8 uc007dof.1 uc007dof.2 uc007dof.3 uc007dof.4 Seems to be involved in cell adhesion through trans- homophilic and -heterophilic interactions, the latter including specifically interactions with NECTIN1. Self-associates. Interacts via its Ig-like V-type domain with NECTIN1 Ig-like V-type domain. Interacts via its C-terminus with AFDN (By similarity). Cell membrane ; Single-pass type I membrane protein Cell junction, adherens junction Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8R007-1; Sequence=Displayed; Name=2; IsoId=Q8R007-2; Sequence=VSP_027336; Expressed in brain, lung, testis and embryo. Detected at embryonic days 11, 15 and 17. Belongs to the nectin family. Sequence=BAE32972.1; Type=Erroneous initiation; Evidence=; plasma membrane adherens junction cell-cell adherens junction cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules membrane integral component of membrane cell junction signaling receptor activity identical protein binding protein homodimerization activity viral entry into host cell cell adhesion molecule binding cell-cell adhesion uc007dof.1 uc007dof.2 uc007dof.3 uc007dof.4 
ENSMUST00000006587.7 Peds1 ENSMUST00000006587.7 plasmanylethanolamine desaturase 1 (from RefSeq NM_145538.2) ENSMUST00000006587.1 ENSMUST00000006587.2 ENSMUST00000006587.3 ENSMUST00000006587.4 ENSMUST00000006587.5 ENSMUST00000006587.6 NM_145538 PDES1_MOUSE PEDS1 Pdes Q99LQ7 Tmem189 uc008oad.1 uc008oad.2 uc008oad.3 Plasmanylethanolamine desaturase involved in plasmalogen biogenesis in the endoplasmic reticulum membrane. Plasmalogens are glycerophospholipids with a hydrocarbon chain linked by a vinyl ether bond at the glycerol sn-1 position, and are involved in antioxidative and signaling mechanisms. Reaction=1-(1,2-saturated alkyl)-2-acyl-sn-glycero-3- phosphoethanolamine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = 1-O- (1Z-alkenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 Fe(III)- [cytochrome b5] + 2 H2O; Xref=Rhea:RHEA:22956, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:75028, ChEBI:CHEBI:77290; EC=1.14.19.77; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22957; Evidence=; Reaction=a 1-O-hexadecyl-2-acyl-sn-glycero-3-phosphoethanolamine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = a 1-O-(1Z-hexadecenyl)-2-acyl- sn-glycero-3-phosphoethanolamine + 2 Fe(III)-[cytochrome b5] + 2 H2O; Xref=Rhea:RHEA:61960, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:145181, ChEBI:CHEBI:145186; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61961; Evidence=; Reaction=a 1-O-octadecyl-2-acyl-sn-glycero-3-phosphoethanolamine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = a 1-O-(1Z-octadecenyl)-2-acyl- sn-glycero-3-phosphoethanolamine + 2 Fe(III)-[cytochrome b5] + 2 H2O; Xref=Rhea:RHEA:61964, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:145182, ChEBI:CHEBI:145187; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61965; Evidence=; Reaction=a 1-O-(9Z-octadecenyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = a 1-O-(1Z,9Z- octadecadienyl)-2-acyl-sn-glycero-3-phosphoethanolamine + 2 Fe(III)- [cytochrome b5] + 2 H2O; Xref=Rhea:RHEA:61968, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:145183, ChEBI:CHEBI:145188; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61969; Evidence=; Lipid metabolism; fatty acid metabolism. Endoplasmic reticulum membrane ; Multi-pass membrane protein Histidine box-1 and -2 together with other histidine residues are essential for catalytic activity. Body weight is reduced in homozygous deficient male and female. Deficient mice lack plasmanylethanolamine desaturase activity and have dramatically lowered plasmalogen levels in their tissues. Belongs to the fatty acid desaturase CarF family. endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane uc008oad.1 uc008oad.2 uc008oad.3 
ENSMUST00000006611.9 Srm ENSMUST00000006611.9 spermidine synthase (from RefSeq NM_009272.4) ENSMUST00000006611.1 ENSMUST00000006611.2 ENSMUST00000006611.3 ENSMUST00000006611.4 ENSMUST00000006611.5 ENSMUST00000006611.6 ENSMUST00000006611.7 ENSMUST00000006611.8 NM_009272 Q64674 SPEE_MOUSE uc008vuw.1 uc008vuw.2 uc008vuw.3 Catalyzes the production of spermidine from putrescine and decarboxylated S-adenosylmethionine (dcSAM). Has a strong preference for putrescine as substrate, and has very low activity towards 1,3- diaminopropane. Has extremely low activity towards spermidine (By similarity). Reaction=putrescine + S-adenosyl 3-(methylsulfanyl)propylamine = H(+) + S-methyl-5'-thioadenosine + spermidine; Xref=Rhea:RHEA:12721, ChEBI:CHEBI:15378, ChEBI:CHEBI:17509, ChEBI:CHEBI:57443, ChEBI:CHEBI:57834, ChEBI:CHEBI:326268; EC=2.5.1.16; The activity is thought to be regulated mainly by the availability of decarboxylated S-adenosylmethionine. Amine and polyamine biosynthesis; spermidine biosynthesis; spermidine from putrescine: step 1/1. Homodimer or homotetramer. Belongs to the spermidine/spermine synthase family. catalytic activity spermidine synthase activity polyamine metabolic process polyamine biosynthetic process spermidine biosynthetic process transferase activity identical protein binding protein homodimerization activity cellular response to leukemia inhibitory factor uc008vuw.1 uc008vuw.2 uc008vuw.3 
ENSMUST00000006614.3 Epha2 ENSMUST00000006614.3 Eph receptor A2 (from RefSeq NM_010139.3) ENSMUST00000006614.1 ENSMUST00000006614.2 EPHA2_MOUSE Eck Myk2 NM_010139 Q03145 Q3UNI2 Q60633 Q62212 Sek2 uc008voc.1 uc008voc.2 uc008voc.3 uc008voc.4 Receptor tyrosine kinase which binds promiscuously membrane- bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Activated by the ligand ephrin- A1/EFNA1 regulates migration, integrin-mediated adhesion, proliferation and differentiation of cells (PubMed:29749928). Regulates cell adhesion and differentiation through DSG1/desmoglein-1 and inhibition of the ERK1/ERK2 signaling pathway. May also participate in UV radiation- induced apoptosis and have a ligand-independent stimulatory effect on chemotactic cell migration. During development, may function in distinctive aspects of pattern formation and subsequently in development of several fetal tissues. Involved for instance in angiogenesis, in early hindbrain development and epithelial proliferation and branching morphogenesis during mammary gland development. Engaged by the ligand ephrin-A5/EFNA5 may regulate lens fiber cells shape and interactions and be important for lens transparency development and maintenance. With ephrin-A2/EFNA2 may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis. Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence= Homodimer. Interacts with INPPL1; regulates activated EPHA2 endocytosis and degradation (PubMed:29749928). Interacts (inactivated form) with PTK2/FAK1 and interacts (EFNA1 ligand-activated form) with PTPN11; regulates integrin-mediated adhesion. Interacts with ARHGEF16, DOCK4 and ELMO2; mediates ligand-independent activation of RAC1 which stimulates cell migration. Interacts with CLDN4; phosphorylates CLDN4 and may regulate tight junctions. Interacts with ACP1. Interacts with CEMIP. Interacts with NCK1; may regulate EPHA2 activity in cell migration and adhesion. Interacts with SLA. Interacts (phosphorylated form) with VAV2, VAV3 and PI3-kinase p85 subunit (PIK3R1, PIK3R2 or PIK3R3); critical for the EFNA1-induced activation of RAC1 which stimulates cell migration. Interacts with ANKS1A. Interacts with TIMD4 (By similarity). Q03145; Q03137: Epha4; NbExp=3; IntAct=EBI-529701, EBI-1539152; Cell membrane ; Single-pass type I membrane protein Cell projection, ruffle membrane ; Single-pass type I membrane protein Cell projection, lamellipodium membrane ; Single-pass type I membrane protein Cell junction, focal adhesion Note=Present at regions of cell-cell contacts but also at the leading edge of migrating cells. Relocates from the plasma membrane to the cytoplasmic and perinuclear regions in cancer cells. Expressed in the lung, intestine and liver (PubMed:11287184). Expressed in myogenic progenitor cells (PubMed:27446912). First detected in gastrulation stage embryos (6.5- 7.5 dpc) in ectodermal cells adjacent to the distal region of the primitive streak. By the neural plate stage (approximately 7.5 dpc), EPHA2 expression becomes restricted to the extreme distal end or node of the primitive streak. After the beginning of somitogenesis (approximately 8.0 dpc), expression persists in the node as this structure regresses toward the caudal end of the embryo. In addition, beginning at the mid head fold stage (approximately 7.75 dpc), we observe that EPHA2 exhibits a dynamic and spatially restricted expression pattern in the prospective hindbrain region. EPHA2 transcripts are initially detected in a 5-cell wide strip of mesodermal cells underlying prospective rhombomere 4 (R4). Subsequently at the beginning of somitogenesis, expression is observed in prospective R4. At the 4-8-somite stage, EPHA2 transcripts are observed in R4, mesenchymal cells underlying R4, and surface ectoderm in the vicinity of the developing second branchial arch. By the 10-somite stage, expression in these cells is down-regulated. Additionally, at the 5-8- somite stage, EPHA2 transcripts are detected initially in the lateral mesenchyme immediately underlying the surface ectoderm adjacent to R5 and R6, and subsequently in surface ectoderm overlying the developing third branchial arch. In myogenic progenitor cells, expressed during the acquisition of muscle stem cell properties, from 18.5 dpc to adulthood (PubMed:27446912). Autophosphorylates. Phosphorylated at Ser-898 by PKB; serum- induced phosphorylation which targets EPHA2 to the cell leading edge and stimulates cell migration. Phosphorylation by PKB is inhibited by EFNA1-activated EPHA2 which regulates PKB activity via a reciprocal regulatory loop. Phosphorylated on tyrosine upon binding and activation by EFNA1. Phosphorylated residues Tyr-589 and Tyr-595 are required for binding VAV2 and VAV3 while phosphorylated residues Tyr-736 and Tyr-931 are required for binding PI3-kinase p85 subunit (PIK3R1, PIK3R2 or PIK3R3). These phosphorylated residues are critical for recruitment of VAV2 and VAV3 and PI3-kinase p85 subunit which transduce downstream signaling to activate RAC1 GTPase and cell migration. Dephosphorylation of Tyr-931 by PTPRF prevents the interaction of EPHA2 with NCK1. Phosphorylated at Ser-898 in response to TNF by RPS6KA1 and RPS6KA3; RPS6KA-EPHA2 signaling pathway controls cell migration. Phosphorylated at Ser-898 by PKA; blocks cell retraction induced by EPHA2 kinase activity. Dephosphorylated by ACP1. Ubiquitinated by CHIP/STUB1. Ubiquitination is regulated by the HSP90 chaperone and regulates the receptor stability and activity through proteasomal degradation. ANKS1A prevents ubiquitination and degradation. Mice are viable, fertile but exhibit aberrant development of tail vertebra and susceptibility to carcinogenesis. Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. nucleotide binding skeletal system development angiogenesis blood vessel development vasculogenesis osteoblast differentiation negative regulation of cytokine production blood vessel endothelial cell proliferation involved in sprouting angiogenesis protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity ephrin receptor activity transmembrane-ephrin receptor activity protein binding ATP binding plasma membrane integral component of plasma membrane focal adhesion protein phosphorylation apoptotic process inflammatory response cell adhesion transmembrane receptor protein tyrosine kinase signaling pathway axon guidance intrinsic apoptotic signaling pathway in response to DNA damage cell surface regulation of lamellipodium assembly notochord formation membrane integral component of membrane kinase activity phosphorylation cell migration negative regulation of angiogenesis transferase activity peptidyl-tyrosine phosphorylation neural tube development lamellipodium cell junction cell differentiation neuron differentiation keratinocyte differentiation osteoclast differentiation leading edge membrane lamellipodium membrane ruffle membrane negative regulation of chemokine production mammary gland epithelial cell proliferation regulation of cell adhesion mediated by integrin post-anal tail morphogenesis cell projection neuron projection receptor complex protein kinase B signaling regulation of blood vessel endothelial cell migration regulation of angiogenesis cAMP metabolic process bone remodeling ephrin receptor signaling pathway axial mesoderm formation blood vessel morphogenesis notochord morphogenesis cell motility defense response to Gram-positive bacterium negative regulation of protein kinase B signaling notochord cell development cell chemotaxis branching involved in mammary gland duct morphogenesis occluding junction lens fiber cell morphogenesis regulation of ERK1 and ERK2 cascade response to growth factor protein localization to plasma membrane activation of GTPase activity negative regulation of lymphangiogenesis positive regulation of protein localization to plasma membrane positive regulation of bicellular tight junction assembly pericyte cell differentiation uc008voc.1 uc008voc.2 uc008voc.3 uc008voc.4 
ENSMUST00000006618.9 Arhgef19 ENSMUST00000006618.9 Rho guanine nucleotide exchange factor 19, transcript variant 2 (from RefSeq NM_172520.3) ARHGJ_MOUSE ENSMUST00000006618.1 ENSMUST00000006618.2 ENSMUST00000006618.3 ENSMUST00000006618.4 ENSMUST00000006618.5 ENSMUST00000006618.6 ENSMUST00000006618.7 ENSMUST00000006618.8 NM_172520 Q6PAC2 Q8BWA8 Wgef uc008vob.1 uc008vob.2 uc008vob.3 Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPase. Highly expressed in intestine, and at lower levels in liver, heart and kidney. guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity GTPase activator activity regulation of actin cytoskeleton organization regulation of Rho protein signal transduction wound healing positive regulation of GTPase activity uc008vob.1 uc008vob.2 uc008vob.3 
ENSMUST00000006625.8 Rbm14 ENSMUST00000006625.8 RNA binding motif protein 14 (from RefSeq NM_019869.3) ENSMUST00000006625.1 ENSMUST00000006625.2 ENSMUST00000006625.3 ENSMUST00000006625.4 ENSMUST00000006625.5 ENSMUST00000006625.6 ENSMUST00000006625.7 NM_019869 Q3TJB6 Q8C2Q3 Q91Z21 Q9DBI6 RBM14_MOUSE uc008gaz.1 uc008gaz.2 uc008gaz.3 uc008gaz.4 May function as a nuclear receptor coactivator, enhancing transcription through other coactivators such as NCOA6 and CITED1 (By similarity). Regulates centriole biogenesis by suppressing the formation of aberrant centriolar protein complexes in the cytoplasm and thus preserving mitotic spindle integrity (PubMed:25385835). Prevents the formation of the STIL-CENPJ complex (which can induce the formation of aberrant centriolar protein complexes) by interfering with the interaction of STIL with CENPJ (By similarity). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway. Interacts with NCOA6, CITED1 and XRCC5/KU86. Interacts with SS18. Interacts with STIL and interferes with its interaction with CENPJ. Interacts with gamma-tubulin. Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle proteins (SFPQ, NONO, PSPC1, RBM14, and MATR3) and NEAT1 RNA. Nucleus Nucleus, nucleolus Cytoplasm Note=In punctate subnuclear structures often located adjacent to splicing speckles, called paraspeckles. Cytoplasmic localization is crucial for its function in suppressing the formation of aberrant centriolar protein complexes. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8C2Q3-1; Sequence=Displayed; Name=2; IsoId=Q8C2Q3-2; Sequence=VSP_015080; activation of innate immune response immune system process nucleic acid binding RNA binding nucleus transcription factor complex nucleolus cytoplasm histone deacetylation nuclear speck ligand-dependent nuclear receptor transcription coactivator activity innate immune response positive regulation of transcription from RNA polymerase II promoter negative regulation of centriole replication SMAD protein signal transduction centriole assembly uc008gaz.1 uc008gaz.2 uc008gaz.3 uc008gaz.4 
ENSMUST00000006626.5 Actn3 ENSMUST00000006626.5 actinin alpha 3 (from RefSeq NM_013456.2) ACTN3_MOUSE ENSMUST00000006626.1 ENSMUST00000006626.2 ENSMUST00000006626.3 ENSMUST00000006626.4 NM_013456 O88990 Q14DS8 uc008gbf.1 uc008gbf.2 uc008gbf.3 uc008gbf.4 uc008gbf.5 This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF093775.1, BC111890.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (By similarity). Homodimer; antiparallel. Also forms heterodimers with ACTN2. Interacts with MYOZ1 (By similarity). Belongs to the alpha-actinin family. actin binding calcium ion binding protein binding striated muscle thin filament brush border muscle contraction regulation of the force of skeletal muscle contraction skeletal muscle atrophy transition between fast and slow fiber response to denervation involved in regulation of muscle adaptation sarcomere Z disc protein binding, bridging positive regulation of fast-twitch skeletal muscle fiber contraction protein homodimerization activity negative regulation of glycolytic process metal ion binding positive regulation of skeletal muscle tissue growth positive regulation of skeletal muscle fiber development actin filament binding bone morphogenesis negative regulation of calcineurin-NFAT signaling cascade regulation of muscle system process negative regulation of oxidative phosphorylation positive regulation of bone mineralization involved in bone maturation negative regulation of relaxation of muscle regulation of aerobic respiration positive regulation of glucose catabolic process to lactate via pyruvate osteoblast differentiation uc008gbf.1 uc008gbf.2 uc008gbf.3 uc008gbf.4 uc008gbf.5 
ENSMUST00000006629.14 Sptbn1 ENSMUST00000006629.14 Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. Plays a critical role in central nervous system development and function. (from UniProt Q62261) A2AFU1 ENSMUST00000006629.1 ENSMUST00000006629.10 ENSMUST00000006629.11 ENSMUST00000006629.12 ENSMUST00000006629.13 ENSMUST00000006629.2 ENSMUST00000006629.3 ENSMUST00000006629.4 ENSMUST00000006629.5 ENSMUST00000006629.6 ENSMUST00000006629.7 ENSMUST00000006629.8 ENSMUST00000006629.9 Elf M74773 Q3TEM7 Q5SQL8 Q5SQL9 Q62261 Q9QWJ7 SPTB2_MOUSE Spnb-2 Spnb2 Sptb2 uc007ihs.1 uc007ihs.2 uc007ihs.3 Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. Plays a critical role in central nervous system development and function. Interacts with ANK2 (PubMed:15262991). Interacts with CPNE4 (via VWFA domain) (PubMed:12522145). Like erythrocyte spectrin, the spectrin-like proteins are capable to form dimers which can further associate to tetramers (By similarity). Interacts with CAMSAP1 (By similarity). Can form heterodimers with SPTAN1. Cytoplasm, cytoskeleton Endomembrane system Cytoplasm, myofibril, sarcomere, M line Cytoplasm, cytosol Cell membrane Note=Colocalizes with ANK2 in a distinct intracellular compartment of neonatal cardiomyocytes. [Isoform 2]: Cytoplasm Cell membrane ; Peripheral membrane protein; Cytoplasmic side. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q62261-1; Sequence=Displayed; Name=2; Synonyms=Elf3; IsoId=Q62261-2; Sequence=VSP_026057, VSP_026058, VSP_026059; Isoform 2 is present in brain, heart, kidney and liver (at protein level). Isoform 2 is expressed in brain, heart and liver throughout embryonic development. Isoform 1 is mainly expressed in neonatal developing ventricular cardiomyocytes. Belongs to the spectrin family. mitotic cytokinesis actin binding structural constituent of cytoskeleton protein binding calmodulin binding phospholipid binding nucleus nucleolus cytoplasm cytoskeleton plasma membrane plasma membrane organization cytoskeleton organization common-partner SMAD protein phosphorylation spectrin endomembrane system postsynaptic density membrane ankyrin binding axolemma cortical cytoskeleton M band cuticular plate macromolecular complex Golgi to plasma membrane protein transport macromolecular complex binding GTPase binding actin filament capping regulation of SMAD protein import into nucleus membrane assembly protein localization to plasma membrane postsynapse glutamatergic synapse positive regulation of interleukin-2 secretion regulation of protein localization to plasma membrane positive regulation of protein localization to plasma membrane uc007ihs.1 uc007ihs.2 uc007ihs.3 
ENSMUST00000006632.8 Zdhhc24 ENSMUST00000006632.8 zinc finger, DHHC domain containing 24, transcript variant 1 (from RefSeq NM_027476.3) ENSMUST00000006632.1 ENSMUST00000006632.2 ENSMUST00000006632.3 ENSMUST00000006632.4 ENSMUST00000006632.5 ENSMUST00000006632.6 ENSMUST00000006632.7 NM_027476 Q3TAY4 Q3TDF1 Q3TF09 Q6IR37 Q9CS66 ZDH24_MOUSE Zdhhc24 uc008gbh.1 uc008gbh.2 uc008gbh.3 uc008gbh.4 Probable palmitoyltransferase that could catalyze the addition of palmitate onto various protein substrates. Reaction=hexadecanoyl-CoA + L-cysteinyl-[protein] = CoA + S- hexadecanoyl-L-cysteinyl-[protein]; Xref=Rhea:RHEA:36683, Rhea:RHEA- COMP:10131, Rhea:RHEA-COMP:11032, ChEBI:CHEBI:29950, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:74151; EC=2.3.1.225; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36684; Evidence=; Membrane ; Multi-pass membrane protein The DHHC domain is required for palmitoyltransferase activity. Belongs to the DHHC palmitoyltransferase family. Sequence=BAB30905.2; Type=Frameshift; Evidence=; endoplasmic reticulum Golgi apparatus protein targeting to membrane membrane integral component of membrane palmitoyltransferase activity transferase activity transferase activity, transferring acyl groups peptidyl-L-cysteine S-palmitoylation protein-cysteine S-palmitoyltransferase activity uc008gbh.1 uc008gbh.2 uc008gbh.3 uc008gbh.4 
ENSMUST00000006638.8 Slc34a3 ENSMUST00000006638.8 solute carrier family 34 (sodium phosphate), member 3, transcript variant 1 (from RefSeq NM_080854.3) ENSMUST00000006638.1 ENSMUST00000006638.2 ENSMUST00000006638.3 ENSMUST00000006638.4 ENSMUST00000006638.5 ENSMUST00000006638.6 ENSMUST00000006638.7 NM_080854 NPT2C_MOUSE Npt2c Q05AC3 Q80SU6 uc008iqt.1 uc008iqt.2 uc008iqt.3 uc008iqt.4 uc008iqt.5 Involved in actively transporting phosphate into cells via Na(+) cotransport in the renal brush border membrane (PubMed:12690469, PubMed:16113079). The cotransport has a Na(+):Pi stoichiometry of 2:1 and is electroneutral (PubMed:16113079). Reaction=2 Na(+)(out) + phosphate(out) = 2 Na(+)(in) + phosphate(in); Xref=Rhea:RHEA:71259, ChEBI:CHEBI:29101, ChEBI:CHEBI:43474; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71260; Evidence=; Kinetic parameters: KM=200 uM for phosphate ; pH dependence: Optimum pH is 7.5. ; Apical cell membrane ; Multi-pass membrane protein Note=Localized at the brush border membrane in the kidney. Expressed only in the kidney. Belongs to the SLC34A transporter family. sodium:phosphate symporter activity plasma membrane brush border ion transport sodium ion transport phosphate ion transport symporter activity sodium-dependent phosphate transmembrane transporter activity membrane integral component of membrane apical plasma membrane cellular phosphate ion homeostasis cytoplasmic vesicle brush border membrane vesicle sodium ion transmembrane transport sodium-dependent phosphate transport transmembrane transport uc008iqt.1 uc008iqt.2 uc008iqt.3 uc008iqt.4 uc008iqt.5 
ENSMUST00000006646.15 Nsmf ENSMUST00000006646.15 NMDA receptor synaptonuclear signaling and neuronal migration factor, transcript variant 15 (from RefSeq NR_185326.1) A2AJ93 A2AJ94 ENSMUST00000006646.1 ENSMUST00000006646.10 ENSMUST00000006646.11 ENSMUST00000006646.12 ENSMUST00000006646.13 ENSMUST00000006646.14 ENSMUST00000006646.2 ENSMUST00000006646.3 ENSMUST00000006646.4 ENSMUST00000006646.5 ENSMUST00000006646.6 ENSMUST00000006646.7 ENSMUST00000006646.8 ENSMUST00000006646.9 Jac NR_185326 NSMF_MOUSE Nelf Q8BPT0 Q8C9R5 Q99NF2 Q9DBF4 Q9ERZ1 uc008iqc.1 uc008iqc.2 uc008iqc.3 Couples NMDA-sensitive glutamate receptor signaling to the nucleus and triggers long-lasting changes in the cytoarchitecture of dendrites and spine synapse processes. Part of the cAMP response element-binding protein (CREB) shut-off signaling pathway. Stimulates outgrowth of olfactory axons and migration of gonadotropin-releasing hormone (GnRH) and luteinizing-hormone-releasing hormone (LHRH) neuronal cells. Interacts with KPNA1; the interaction occurs in a calcium- independent manner after synaptic NMDA receptor stimulation and is required for nuclear import of NSMF but is competed by CABP1. Interacts (via the central NLS-containing motif region) with CABP1 (via EF-hands 1 and 2); the interaction occurs in a calcium-dependent manner after synaptic NMDA receptor stimulation and prevents the nuclear import of NSMF. Cannot be competed by calmodulin (By similarity). Q99NF2-1; O88751-1: Cabp1; Xeno; NbExp=2; IntAct=EBI-15688721, EBI-15688755; Nucleus. Nucleus envelope Nucleus membrane Nucleus matrix Cytoplasm. Cytoplasm, cell cortex Cytoplasm, cytoskeleton Cell membrane; Peripheral membrane protein. Cell projection, dendrite Synapse Synapse, synaptosome Postsynaptic density Membrane Note=Found on the outside of the luteinizing-hormone- releasing hormone (LHRH) cell membrane and axons projecting from the olfactory pit and epithelium. Associates with transcriptionally active chromatin regions. Detected at the nuclear membranes of CA1 neurons. Cortical cytoskeleton. Localized in proximal apical dendrites. Colocalizes with CABP1 in dendrites and dendritic spines. Myristoylation is a prerequisite for extranuclear localization. Translocates from dendrites to the nucleus during NMDA receptor- dependent long-term potentiation (LTP) induction of synaptic transmission at Schaffer collateral/CA1 synapses of hippocampal primary neurons and in an importin-dependent manner (By similarity). Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q99NF2-1; Sequence=Displayed; Name=2; IsoId=Q99NF2-2; Sequence=VSP_014767; Name=3; IsoId=Q99NF2-3; Sequence=VSP_014768; Name=4; IsoId=Q99NF2-4; Sequence=VSP_014764, VSP_014767, VSP_014769; Name=5; IsoId=Q99NF2-5; Sequence=VSP_014765, VSP_014766; Preferentially expressed in immature migratory, in comparison to postmigrating, gonadotropin-releasing hormone (GnRH) neuronal cell lines (at protein level). Expressed in adult brain and liver. In the brain, expressed in the primary pituitary gland, cortex, hippocampus, olfactory bulb and thalamus. At 14.5 dpc embryo found at high levels within the forebrain, olfactory epithelium and olfactory pit. At 12.5 dpc embryo detected on olfactory axons including olfactory pathway on which the LHRH neurons move. From 11.5 dpc to 17.5 dpc embryos expressed in LHRH (luteinizing hormone-releasing hormone) neurons as they migrate from the olfactory pit into the developing forebrain. Up-regulated by gonadotropin releasing hormone (GnRH). Proteolytically processed after NMDA receptor activation. Cleaved in a calcium-dependent and calpain-sensitive manner. Calpain cleavage is essential for the translocation process from dendrites to the nucleus (By similarity). Transport from dendrites to the nucleus is induced by NMDA receptor activation and results in a rapid stripping of synaptic contacts and a reduction of dendritic complexity (By similarity). KIF5C associates to its 3'-UTR mRNA in granules along dendritic shafts, suggesting that this protein may regulate its dendritic trafficking and local translation at postsynaptic sites. Belongs to the NSMF family. protein binding nucleus nuclear envelope nucleoplasm nuclear euchromatin cytoplasm cytoskeleton plasma membrane cell cortex postsynaptic density membrane nuclear matrix cell junction dendrite cortical cytoskeleton nuclear membrane positive regulation of protein dephosphorylation cell projection neuron projection dendritic spine perikaryon regulation of neuron apoptotic process synapse postsynaptic membrane regulation of neuronal synaptic plasticity calcium-dependent protein binding regulation of dendrite morphogenesis cellular response to amino acid stimulus cellular response to electrical stimulus cellular response to gonadotropin stimulus apical dendrite postsynapse glutamatergic synapse postsynapse to nucleus signaling pathway regulation of neuron migration positive regulation of neuron migration uc008iqc.1 uc008iqc.2 uc008iqc.3 
ENSMUST00000006659.8 Prl7a1 ENSMUST00000006659.8 prolactin family 7, subfamily a, member 1, transcript variant 2 (from RefSeq NM_008930.2) ENSMUST00000006659.1 ENSMUST00000006659.2 ENSMUST00000006659.3 ENSMUST00000006659.4 ENSMUST00000006659.5 ENSMUST00000006659.6 ENSMUST00000006659.7 NM_008930 O35334 O54830 PR7A1_MOUSE Prlpe Prlpg Q80X21 uc007pxy.1 uc007pxy.2 uc007pxy.3 uc007pxy.4 Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O54830-1; Sequence=Displayed; Name=2; IsoId=O54830-2; Sequence=VSP_016678; Expressed specifically in the placenta. Detected only in the trophoblast giant cells. Highest expression at mid-pregnancy. Belongs to the somatotropin/prolactin family. prolactin receptor binding hormone activity extracellular region extracellular space signal transduction female pregnancy positive regulation of cell proliferation mammary gland development response to nutrient levels positive regulation of JAK-STAT cascade positive regulation of lactation uc007pxy.1 uc007pxy.2 uc007pxy.3 uc007pxy.4 
ENSMUST00000006660.7 Prl7a2 ENSMUST00000006660.7 prolactin family 7, subfamily a, member 2 (from RefSeq NM_011168.4) ENSMUST00000006660.1 ENSMUST00000006660.2 ENSMUST00000006660.3 ENSMUST00000006660.4 ENSMUST00000006660.5 ENSMUST00000006660.6 NM_011168 O54831 PR7A2_MOUSE Prlpf uc007pya.1 uc007pya.2 Secreted Expression restricted to the placental tissue. Expressed only in the spongiotrophoblasts. Not detected until later in gestation. Belongs to the somatotropin/prolactin family. prolactin receptor binding hormone activity extracellular region extracellular space signal transduction female pregnancy positive regulation of cell proliferation mammary gland development response to nutrient levels positive regulation of JAK-STAT cascade positive regulation of lactation uc007pya.1 uc007pya.2 
ENSMUST00000006662.4 Prl8a9 ENSMUST00000006662.4 prolactin family8, subfamily a, member 9, transcript variant 1 (from RefSeq NM_023332.4) ENSMUST00000006662.1 ENSMUST00000006662.2 ENSMUST00000006662.3 NM_023332 PR8A9_MOUSE Prlpc2 Q9CQ58 uc007pxu.1 uc007pxu.2 uc007pxu.3 uc007pxu.4 Secreted Detected only in placenta. Localized to spongiotrophoblasts and trophoblast giant cells of the placenta. First detected at 11.5 dpc and expressed continually throughout development, its expression level fluctuated during gestation. Belongs to the somatotropin/prolactin family. prolactin receptor binding hormone activity extracellular region extracellular space signal transduction female pregnancy positive regulation of cell proliferation mammary gland development response to nutrient levels positive regulation of JAK-STAT cascade positive regulation of lactation uc007pxu.1 uc007pxu.2 uc007pxu.3 uc007pxu.4 
ENSMUST00000006664.8 Prl8a1 ENSMUST00000006664.8 prolactin family 8, subfamily a, member 1 (from RefSeq NM_028477.2) ENSMUST00000006664.1 ENSMUST00000006664.2 ENSMUST00000006664.3 ENSMUST00000006664.4 ENSMUST00000006664.5 ENSMUST00000006664.6 ENSMUST00000006664.7 Ghd16 NM_028477 Plpcd Prl8a1 Prlpc4 Q9DAV8 Q9DAV8_MOUSE uc007pxv.1 uc007pxv.2 Secreted Belongs to the somatotropin/prolactin family. prolactin receptor binding hormone activity extracellular region extracellular space signal transduction female pregnancy positive regulation of cell proliferation membrane integral component of membrane mammary gland development response to nutrient levels positive regulation of JAK-STAT cascade positive regulation of lactation uc007pxv.1 uc007pxv.2 
ENSMUST00000006669.6 Pdk1 ENSMUST00000006669.6 pyruvate dehydrogenase kinase, isoenzyme 1, transcript variant 1 (from RefSeq NM_172665.5) ENSMUST00000006669.1 ENSMUST00000006669.2 ENSMUST00000006669.3 ENSMUST00000006669.4 ENSMUST00000006669.5 NM_172665 PDK1_MOUSE Q3U5E5 Q8BFP9 uc008kbj.1 uc008kbj.2 uc008kbj.3 uc008kbj.4 Kinase that plays a key role in regulation of glucose and fatty acid metabolism and homeostasis via phosphorylation of the pyruvate dehydrogenase subunits PDHA1 and PDHA2. This inhibits pyruvate dehydrogenase activity, and thereby regulates metabolite flux through the tricarboxylic acid cycle, down-regulates aerobic respiration and inhibits the formation of acetyl-coenzyme A from pyruvate. Plays an important role in cellular responses to hypoxia and is important for cell proliferation under hypoxia. Protects cells against apoptosis in response to hypoxia and oxidative stress (By similarity). Reaction=ATP + L-seryl-[pyruvate dehydrogenase E1 alpha subunit] = ADP + H(+) + O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit]; Xref=Rhea:RHEA:23052, Rhea:RHEA-COMP:13689, Rhea:RHEA-COMP:13690, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.2; Homodimer, and heterodimer with PDK2. Interacts with the pyruvate dehydrogenase complex subunit DLAT, and is part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3) (By similarity). Mitochondrion matrix Up-regulated by glucose and palmitate. Up- regulated via the HIF1A signaling pathway in response to hypoxia. Phosphorylated by constitutively activated ABL1, FGFR1, FLT3 and JAK2 (in vitro), and this may also occur in cancer cells that express constitutively activated ABL1, FGFR1, FLT3 and JAK2. Phosphorylation at Tyr-241 and Tyr-242 strongly increases kinase activity, while phosphorylation at Tyr-136 has a lesser effect (By similarity). Belongs to the PDK/BCKDK protein kinase family. nucleotide binding protein kinase activity protein serine/threonine kinase activity pyruvate dehydrogenase (acetyl-transferring) kinase activity ATP binding nucleus nucleolus mitochondrion mitochondrial matrix plasma membrane mitochondrial pyruvate dehydrogenase complex carbohydrate metabolic process glucose metabolic process protein phosphorylation cell surface receptor signaling pathway cell proliferation intrinsic apoptotic signaling pathway in response to oxidative stress regulation of acetyl-CoA biosynthetic process from pyruvate regulation of glucose metabolic process kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation intracellular signal transduction protein homodimerization activity macromolecular complex binding pyruvate dehydrogenase complex protein heterodimerization activity hypoxia-inducible factor-1alpha signaling pathway uc008kbj.1 uc008kbj.2 uc008kbj.3 uc008kbj.4 
ENSMUST00000006679.15 Prtn3 ENSMUST00000006679.15 proteinase 3 (from RefSeq NM_011178.3) A0A0R4IZY6 A0A0R4IZY6_MOUSE ENSMUST00000006679.1 ENSMUST00000006679.10 ENSMUST00000006679.11 ENSMUST00000006679.12 ENSMUST00000006679.13 ENSMUST00000006679.14 ENSMUST00000006679.2 ENSMUST00000006679.3 ENSMUST00000006679.4 ENSMUST00000006679.5 ENSMUST00000006679.6 ENSMUST00000006679.7 ENSMUST00000006679.8 ENSMUST00000006679.9 NM_011178 Prtn3 uc007gah.1 uc007gah.2 uc007gah.3 uc007gah.4 serine-type endopeptidase activity receptor binding cytosol plasma membrane proteolysis membrane protein ectodomain proteolysis peptidase activity serine-type peptidase activity hydrolase activity enzyme binding azurophil granule lumen positive regulation of GTPase activity plasma membrane raft cell-cell junction maintenance negative regulation of phagocytosis neutrophil extravasation mature conventional dendritic cell differentiation uc007gah.1 uc007gah.2 uc007gah.3 uc007gah.4 
ENSMUST00000006687.5 Orm3 ENSMUST00000006687.5 orosomucoid 3, transcript variant 5 (from RefSeq NR_166740.1) ENSMUST00000006687.1 ENSMUST00000006687.2 ENSMUST00000006687.3 ENSMUST00000006687.4 J3JRU4 J3JRU4_MOUSE NR_166740 Orm3 uc008tfz.1 uc008tfz.2 Functions as transport protein in the blood stream. Binds various ligands in the interior of its beta-barrel domain (By similarity). Appears to function in modulating the activity of the immune system during the acute-phase reaction. Secreted Belongs to the calycin superfamily. Lipocalin family. regulation of immune system process extracellular region extracellular space uc008tfz.1 uc008tfz.2 
ENSMUST00000006692.6 Mvd ENSMUST00000006692.6 mevalonate (diphospho) decarboxylase, transcript variant 1 (from RefSeq NM_138656.2) ENSMUST00000006692.1 ENSMUST00000006692.2 ENSMUST00000006692.3 ENSMUST00000006692.4 ENSMUST00000006692.5 MVD1_MOUSE NM_138656 Q3TCD8 Q8BTM4 Q922D7 Q99JF5 uc009nss.1 uc009nss.2 uc009nss.3 uc009nss.4 Catalyzes the ATP dependent decarboxylation of (R)-5- diphosphomevalonate to form isopentenyl diphosphate (IPP). Functions in the mevalonate (MVA) pathway leading to isopentenyl diphosphate (IPP), a key precursor for the biosynthesis of isoprenoids and sterol synthesis. Reaction=(R)-5-diphosphomevalonate + ATP = ADP + CO2 + isopentenyl diphosphate + phosphate; Xref=Rhea:RHEA:23732, ChEBI:CHEBI:16526, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57557, ChEBI:CHEBI:128769, ChEBI:CHEBI:456216; EC=4.1.1.33; Evidence=; Steroid biosynthesis; cholesterol biosynthesis. Homodimer. Cytoplasm Belongs to the diphosphomevalonate decarboxylase family. Was originally thought to be located in the peroxisome (By similarity). However, was later shown to be cytosolic (PubMed:12736493). nucleotide binding diphosphomevalonate decarboxylase activity ATP binding peroxisome peroxisomal matrix cytosol lipid metabolic process steroid biosynthetic process cholesterol biosynthetic process steroid metabolic process cholesterol metabolic process positive regulation of cell proliferation isoprenoid biosynthetic process sterol biosynthetic process lyase activity carboxy-lyase activity isopentenyl diphosphate biosynthetic process, mevalonate pathway Hsp70 protein binding protein homodimerization activity uc009nss.1 uc009nss.2 uc009nss.3 uc009nss.4 
ENSMUST00000006697.17 Itih3 ENSMUST00000006697.17 inter-alpha trypsin inhibitor, heavy chain 3, transcript variant 1 (from RefSeq NM_008407.3) E9QME9 ENSMUST00000006697.1 ENSMUST00000006697.10 ENSMUST00000006697.11 ENSMUST00000006697.12 ENSMUST00000006697.13 ENSMUST00000006697.14 ENSMUST00000006697.15 ENSMUST00000006697.16 ENSMUST00000006697.2 ENSMUST00000006697.3 ENSMUST00000006697.4 ENSMUST00000006697.5 ENSMUST00000006697.6 ENSMUST00000006697.7 ENSMUST00000006697.8 ENSMUST00000006697.9 ITIH3_MOUSE NM_008407 Q61704 Q91WG9 uc033goz.1 uc033goz.2 uc033goz.3 uc033goz.4 This gene encodes one of the heavy subunits of inter alpha trypsin inhibitor that functions as a protease inhibitor circulating in the plasma. The encoded protein undergoes proteolytic processing to generate a mature glycoprotein that is linked to the other subunits via an ester bond between the C-terminal aspartic acid residue and the N-acetyl galactosamine residue of chondroitin sulfate. This gene is located in a cluster of related inter alpha trypsin inhibitor genes on chromosome 14. [provided by RefSeq, Oct 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC015276.1, X70393.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849386, SAMN01164135 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes. I-alpha-I plasma protease inhibitors are assembled from one or two heavy chains (HC) and one light chain, bikunin. Pre-alpha-inhibitor (P-alpha-I) is composed of ITIH3/HC3 and bikunin. Secreted. Expressed in both liver and brain. Heavy chains are linked to bikunin via chondroitin 4-sulfate esterified to the alpha-carboxyl of the C-terminal aspartate after propeptide cleavage. Belongs to the ITIH family. Sequence=AAH15276.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=CAA49843.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; serine-type endopeptidase inhibitor activity extracellular region negative regulation of peptidase activity negative regulation of endopeptidase activity hyaluronan metabolic process peptidase inhibitor activity uc033goz.1 uc033goz.2 uc033goz.3 uc033goz.4 
ENSMUST00000006701.8 Stimate ENSMUST00000006701.8 STIM activating enhancer (from RefSeq NM_028839.4) ENSMUST00000006701.1 ENSMUST00000006701.2 ENSMUST00000006701.3 ENSMUST00000006701.4 ENSMUST00000006701.5 ENSMUST00000006701.6 ENSMUST00000006701.7 NM_028839 Q3U2J0 Q3UF25 Q8C691 Q8R3U0 Q9D7D4 Q9D8S1 STIMA_MOUSE Stimate Tmem110 uc007svt.1 uc007svt.2 uc007svt.3 uc007svt.4 Acts as a regulator of store-operated Ca(2+) entry (SOCE) at junctional sites that connect the endoplasmic reticulum (ER) and plasma membrane (PM), called ER-plasma membrane (ER-PM) junction or cortical ER. SOCE is a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Acts by interacting with STIM1, promoting STIM1 conformational switch. Involved in STIM1 relocalization to ER-PM junctions. Contributes to the maintenance and reorganization of store-dependent ER-PM junctions. Homooligomer. Interacts with STIM1. Endoplasmic reticulum membrane ; Multi-pass membrane protein Note=Colocalizes with STIM1 at ER- plasma membrane (ER-PM) junctions, also called cortical endoplasmic reticulum (ER), in store-depleted calcium cells. May translocate to ER- PM junctions in a STIM1-dependent manner in store-depleted cells. Widely expressed. The GXXXG motif may mediate oligomerization. The C-terminus is necessary for its localization at ER-plasma membrane (ER-PM) junctions as well as for the store-dependent rearrangement of ER-PM junctions. Belongs to the STIMATE family. calcium channel regulator activity endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane activation of store-operated calcium channel activity cortical endoplasmic reticulum calcium-mediated signaling using intracellular calcium source positive regulation of calcineurin-NFAT signaling cascade uc007svt.1 uc007svt.2 uc007svt.3 uc007svt.4 
ENSMUST00000006716.8 Wnt6 ENSMUST00000006716.8 wingless-type MMTV integration site family, member 6 (from RefSeq NM_009526.3) ENSMUST00000006716.1 ENSMUST00000006716.2 ENSMUST00000006716.3 ENSMUST00000006716.4 ENSMUST00000006716.5 ENSMUST00000006716.6 ENSMUST00000006716.7 NM_009526 P22727 Q80ZM9 WNT6_MOUSE Wnt-6 uc007bne.1 uc007bne.2 uc007bne.3 Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters. Interacts with PORCN. Secreted, extracellular space, extracellular matrix. Detected in ileum, colon and stomach (at protein level). Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. branching involved in ureteric bud morphogenesis receptor binding frizzled binding extracellular region extracellular space endoplasmic reticulum lumen signal transduction cell-cell signaling multicellular organism development axis specification animal organ morphogenesis cell surface positive regulation of gene expression Wnt signaling pathway neuron differentiation extracellular matrix odontogenesis of dentin-containing tooth cell fate commitment positive regulation of transcription, DNA-templated epithelial-mesenchymal cell signaling positive regulation of tooth mineralization nephron tubule formation nephron tubule development uc007bne.1 uc007bne.2 uc007bne.3 
ENSMUST00000006718.15 Wnt10a ENSMUST00000006718.15 wingless-type MMTV integration site family, member 10A (from RefSeq NM_009518.2) ENSMUST00000006718.1 ENSMUST00000006718.10 ENSMUST00000006718.11 ENSMUST00000006718.12 ENSMUST00000006718.13 ENSMUST00000006718.14 ENSMUST00000006718.2 ENSMUST00000006718.3 ENSMUST00000006718.4 ENSMUST00000006718.5 ENSMUST00000006718.6 ENSMUST00000006718.7 ENSMUST00000006718.8 ENSMUST00000006718.9 NM_009518 P70701 WN10A_MOUSE uc007bnf.1 uc007bnf.2 uc007bnf.3 uc007bnf.4 uc007bnf.5 Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway. Plays a role in normal ectoderm development. Required for normal tooth development. Required for normal postnatal development and maintenance of tongue papillae and sweat ducts. Required for normal proliferation of basal cells in tongue filiform papillae, plantar epithelium and sweat ducts. Required for normal expression of keratins in tongue papillae. Required for normal expression of KRT9 in foot plant epithelium. Required for normal hair follicle function. Forms a soluble 1:1 complex with AFM; this prevents oligomerization and is required for prolonged biological activity. The complex with AFM may represent the physiological form in body fluids. Secreted, extracellular space, extracellular matrix Secreted Detected in foot plant epidermis, footpad epidermis, haired skin epidermis. Detected in adult epithelia, including filiform and fungiform papillae and sweat ducts. Detected in sweat gland myoepithelial cells, but not in sweat gland mesenchyme. Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Belongs to the Wnt family. hair follicle development receptor binding frizzled binding extracellular region extracellular space signal transduction cell-cell signaling multicellular organism development animal organ morphogenesis positive regulation of gene expression neural crest cell differentiation Wnt signaling pathway neuron differentiation hair follicle morphogenesis odontogenesis regulation of odontogenesis of dentin-containing tooth tongue development skin development cell fate commitment receptor agonist activity epidermis morphogenesis sebaceous gland development canonical Wnt signaling pathway cellular response to transforming growth factor beta stimulus uc007bnf.1 uc007bnf.2 uc007bnf.3 uc007bnf.4 uc007bnf.5 
ENSMUST00000006721.3 Cryba2 ENSMUST00000006721.3 crystallin, beta A2 (from RefSeq NM_021541.3) CRBA2_MOUSE ENSMUST00000006721.1 ENSMUST00000006721.2 NM_021541 Q540J7 Q9JJV1 uc007bni.1 uc007bni.2 uc007bni.3 Crystallins are the dominant structural components of the vertebrate eye lens. Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms (By similarity). Has a two-domain beta-structure, folded into four very similar Greek key motifs. Belongs to the beta/gamma-crystallin family. lens development in camera-type eye structural constituent of eye lens visual perception protein homodimerization activity uc007bni.1 uc007bni.2 uc007bni.3 
ENSMUST00000006742.11 Atp7b ENSMUST00000006742.11 ATPase, Cu++ transporting, beta polypeptide, transcript variant 3 (from RefSeq NR_175403.1) ATP7B_MOUSE B1AQ56 ENSMUST00000006742.1 ENSMUST00000006742.10 ENSMUST00000006742.2 ENSMUST00000006742.3 ENSMUST00000006742.4 ENSMUST00000006742.5 ENSMUST00000006742.6 ENSMUST00000006742.7 ENSMUST00000006742.8 ENSMUST00000006742.9 NR_175403 Q64446 Wnd uc009lck.1 uc009lck.2 uc009lck.3 Copper ion transmembrane transporter involved in the export of copper out of the cells, such as the efflux of hepatic copper into the bile. Reaction=ATP + Cu(+)(in) + H2O = ADP + Cu(+)(out) + H(+) + phosphate; Xref=Rhea:RHEA:25792, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:49552, ChEBI:CHEBI:456216; EC=7.2.2.8; Evidence=; Monomer. Interacts with COMMD1/MURR1 (By similarity). Interacts with DCTN4, in a copper-dependent manner (By similarity). Interacts with ATOX1 (By similarity). Interacts (via C-terminus) with ZBTB16/PLZF (By similarity). Golgi apparatus, trans-Golgi network membrane ; Multi-pass membrane protein Late endosome Note=Predominantly found in the trans-Golgi network (TGN). Not redistributed to the plasma membrane in response to elevated copper levels. Detected in liver and kidney. Each HMA domain can bind a copper ion, they are tightly packed and closely interact with each other. Wild-type ATP7B can usually be loaded with an average 5.5 copper atoms per molecule (By similarity). Note=Defects in Atp7b are the cause of the toxic milk mouse mutant (tx) phenotype, characterized by accumulation of copper in the liver in a manner similar to that observed in patients with Wilson disease. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IB subfamily. nucleotide binding copper ion transmembrane transporter activity copper ion binding ATP binding endosome late endosome endoplasmic reticulum Golgi apparatus trans-Golgi network plasma membrane bicellular tight junction ion transport cation transport copper ion transport cellular copper ion homeostasis cellular zinc ion homeostasis lactation zinc ion binding copper ion import intracellular copper ion transport membrane integral component of membrane basolateral plasma membrane cation-transporting ATPase activity metal ion transport cytoplasmic vesicle trans-Golgi network membrane copper-transporting ATPase activity apical part of cell response to copper ion metal ion binding perinuclear region of cytoplasm sequestering of calcium ion copper ion export occluding junction cellular response to copper ion cellular response to manganese ion divalent inorganic cation transport uc009lck.1 uc009lck.2 uc009lck.3 
ENSMUST00000006745.4 Defb2 ENSMUST00000006745.4 defensin beta 2 (from RefSeq NM_010030.2) Defb2 ENSMUST00000006745.1 ENSMUST00000006745.2 ENSMUST00000006745.3 NM_010030 Q32MH3 Q32MH3_MOUSE uc009lca.1 uc009lca.2 uc009lca.3 Secreted extracellular region defense response uc009lca.1 uc009lca.2 uc009lca.3 
ENSMUST00000006749.10 Slc4a1 ENSMUST00000006749.10 solute carrier family 4 (anion exchanger), member 1 (from RefSeq NM_011403.2) ENSMUST00000006749.1 ENSMUST00000006749.2 ENSMUST00000006749.3 ENSMUST00000006749.4 ENSMUST00000006749.5 ENSMUST00000006749.6 ENSMUST00000006749.7 ENSMUST00000006749.8 ENSMUST00000006749.9 NM_011403 Q53ZN9 Q53ZN9_MOUSE Slc4a1 uc007lrp.1 uc007lrp.2 uc007lrp.3 uc007lrp.4 Reaction=chloride(out) + hydrogencarbonate(in) = chloride(in) + hydrogencarbonate(out); Xref=Rhea:RHEA:72363, ChEBI:CHEBI:17544, ChEBI:CHEBI:17996; Evidence=; Cell membrane ; Multi-pass membrane protein Membrane ; Multi- pass membrane protein Belongs to the anion exchanger (TC 2.A.31) family. inorganic anion exchanger activity integral component of plasma membrane ion transport anion transport anion transmembrane transporter activity bicarbonate transmembrane transporter activity anion:anion antiporter activity inorganic anion transport bicarbonate transport membrane integral component of membrane basolateral plasma membrane ankyrin binding cortical cytoskeleton protein homodimerization activity anion transmembrane transport uc007lrp.1 uc007lrp.2 uc007lrp.3 uc007lrp.4 
ENSMUST00000006750.8 Rundc3a ENSMUST00000006750.8 RUN domain containing 3A, transcript variant 1 (from RefSeq NM_016759.5) A2A693 A2A694 ENSMUST00000006750.1 ENSMUST00000006750.2 ENSMUST00000006750.3 ENSMUST00000006750.4 ENSMUST00000006750.5 ENSMUST00000006750.6 ENSMUST00000006750.7 NM_016759 O08576 Q80Y95 RUN3A_MOUSE Rap2ip Rpip8 uc007lrr.1 uc007lrr.2 uc007lrr.3 uc007lrr.4 uc007lrr.5 May act as an effector of RAP2A in neuronal cells. Interacts with the GTP-bound form of RAP2A. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O08576-1; Sequence=Displayed; Name=2; IsoId=O08576-2; Sequence=VSP_032157, VSP_032159, VSP_032160; Name=3; IsoId=O08576-3; Sequence=VSP_032159, VSP_032160; Name=4; IsoId=O08576-4; Sequence=VSP_032158, VSP_032159, VSP_032160; Brain. Belongs to the RUNDC3 family. cytosol plasma membrane positive regulation of cGMP-mediated signaling uc007lrr.1 uc007lrr.2 uc007lrr.3 uc007lrr.4 uc007lrr.5 
ENSMUST00000006760.3 Cdt1 ENSMUST00000006760.3 chromatin licensing and DNA replication factor 1 (from RefSeq NM_026014.3) CDT1_MOUSE Cdt1 ENSMUST00000006760.1 ENSMUST00000006760.2 NM_026014 Q8BUQ1 Q8BX29 Q8R3V0 Q8R4E8 Q8R4E9 Ris2 uc009ntd.1 uc009ntd.2 uc009ntd.3 Required for both DNA replication and mitosis. DNA replication licensing factor, required for pre-replication complex assembly. Cooperates with CDC6 and the origin recognition complex (ORC) during G1 phase of the cell cycle to promote the loading of the mini- chromosome maintenance (MCM) complex onto DNA to generate pre- replication complexes (pre-RC). Required also for mitosis by promoting stable kinetochore-microtubule attachments (By similarity). Potential oncogene (PubMed:11850834). Interacts with GMNN; the interaction inhibits the binding of the MCM complex to origins of replication (PubMed:12192004, PubMed:15811859). Interacts with MCM6 (PubMed:15811859). Interacts with CDC6; are mutually dependent on one another for loading MCM complexes onto chromatin (By similarity). Interacts with PCNA (By similarity). Interacts with LRWD1 during G1 phase and during mitosis (By similarity). Interacts with NDC80 subunit of the NDC80 complex; leading to kinetochore localization (By similarity). Interacts with KAT7 (By similarity). Interacts with ubiquitin-binding protein FAF1; the interaction is likely to promote CDT1 degradation (By similarity). Q8R4E9; O88513: Gmnn; NbExp=3; IntAct=EBI-457043, EBI-445922; Q8R4E9; P97311: Mcm6; NbExp=2; IntAct=EBI-457043, EBI-457132; Nucleus Chromosome, centromere, kinetochore Note=Transiently localizes to kinetochores during prometaphase and metaphase. Present during G1 and early S phase of the cell cycle. Degraded during the late S, G2, and M phases. The PIP-box K+4 motif mediates both the interaction with PCNA and the recruitment of the DCX(DTL) complex: while the PIP-box interacts with PCNA, the presence of the K+4 submotif, recruits the DCX(DTL) complex, leading to its ubiquitination. Two independent E3 ubiquitin ligase complexes, SCF(SKP2) and the DCX(DTL) complex, mediated CDT1 degradation in S phase. Ubiquitinated by the DCX(DTL) complex, in response to DNA damage, leading to its degradation. Ubiquitination by the DCX(DTL) complex is necessary to ensure proper cell cycle regulation and is PCNA-dependent: interacts with PCNA via its PIP-box, while the presence of the containing the 'K+4' motif in the PIP box, recruit the DCX(DTL) complex, leading to its degradation. Phosphorylation at Thr-28 by CDK2 targets CDT1 for ubiquitynation by SCF(SKP2) E3 ubiquitin ligase and subsequent degradation. The interaction with GMNN protects it against ubiquitination. Deubiquitinated by USP37. Phosphorylation by cyclin A-dependent kinases at Thr-28 targets CDT1 for ubiquitynation by SCF(SKP2) E3 ubiquitin ligase and subsequent degradation. Phosphorylated at Thr-28 by MAPK8/JNK1, which blocks replication licensing in response to stress. Binding to GMNN is not affected by phosphorylation (PubMed:14993212). Belongs to the Cdt1 family. Was originally thought to have DNA binding activity (PubMed:12192004). However, more recent studies show that CDT1 binds DNA indirectly via ORC. Sequence=BAC38731.1; Type=Frameshift; Evidence=; DNA replication checkpoint mitotic cell cycle mitotic cytokinesis chromosome, centromeric region kinetochore condensed chromosome kinetochore DNA binding chromatin binding protein binding nucleus chromosome DNA replication cell cycle chromosome segregation nuclear body regulation of DNA-dependent DNA replication initiation positive regulation of protein complex assembly regulation of chromosome organization regulation of nuclear cell cycle DNA replication positive regulation of chromatin binding positive regulation of DNA replication cell division attachment of mitotic spindle microtubules to kinetochore kinetochore organization DNA polymerase binding DNA replication preinitiation complex assembly response to sorbitol deactivation of mitotic spindle assembly checkpoint regulation of DNA replication origin binding negative regulation of protein localization to kinetochore positive regulation of protein localization to kinetochore positive regulation of DNA-dependent DNA replication uc009ntd.1 uc009ntd.2 uc009ntd.3 
ENSMUST00000006762.7 Snai3 ENSMUST00000006762.7 snail family zinc finger 3 (from RefSeq NM_013914.3) ENSMUST00000006762.1 ENSMUST00000006762.2 ENSMUST00000006762.3 ENSMUST00000006762.4 ENSMUST00000006762.5 ENSMUST00000006762.6 NM_013914 Q3U3U2 Q496S5 Q8C244 Q9QY31 SNAI3_MOUSE Smuc Zfp293 uc009nsw.1 uc009nsw.2 uc009nsw.3 Seems to inhibit myoblast differentiation. Transcriptional repressor of E-box-dependent transactivation of downstream myogenic bHLHs genes. Binds preferentially to the canonical E-box sequences 5'- CAGGTG-3' and 5'-CACCTG-3'. Nucleus Highly expressed in skeletal muscle and thymus. Lower expression in heart, lung and spleen. Expressed at 7 dpc, higher expression observed in stages 15 dpc and 18 dpc. Binds E-box via C2H2-type zinc finger domain. Belongs to the snail C2H2-type zinc-finger protein family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus transcription factor complex regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter metal ion binding uc009nsw.1 uc009nsw.2 uc009nsw.3 
ENSMUST00000006764.9 Aprt ENSMUST00000006764.9 adenine phosphoribosyl transferase (from RefSeq NM_009698.2) APT_MOUSE Aprt ENSMUST00000006764.1 ENSMUST00000006764.2 ENSMUST00000006764.3 ENSMUST00000006764.4 ENSMUST00000006764.5 ENSMUST00000006764.6 ENSMUST00000006764.7 ENSMUST00000006764.8 NM_009698 P08030 Q564P4 Q61319 Q6PK77 Q9DCY3 uc009ntf.1 uc009ntf.2 uc009ntf.3 Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis. Reaction=AMP + diphosphate = 5-phospho-alpha-D-ribose 1-diphosphate + adenine; Xref=Rhea:RHEA:16609, ChEBI:CHEBI:16708, ChEBI:CHEBI:33019, ChEBI:CHEBI:58017, ChEBI:CHEBI:456215; EC=2.4.2.7; Evidence=; Purine metabolism; AMP biosynthesis via salvage pathway; AMP from adenine: step 1/1. Homodimer. Cytoplasm. Belongs to the purine/pyrimidine phosphoribosyltransferase family. adenine binding adenine phosphoribosyltransferase activity nucleoplasm cytoplasm cytosol purine ribonucleoside salvage adenine salvage lactation grooming behavior nucleoside metabolic process AMP binding transferase activity transferase activity, transferring glycosyl groups cellular response to insulin stimulus AMP salvage adenine metabolic process uc009ntf.1 uc009ntf.2 uc009ntf.3 
ENSMUST00000006774.11 Gtf2h1 ENSMUST00000006774.11 general transcription factor II H, polypeptide 1, transcript variant 2 (from RefSeq NM_008186.4) ENSMUST00000006774.1 ENSMUST00000006774.10 ENSMUST00000006774.2 ENSMUST00000006774.3 ENSMUST00000006774.4 ENSMUST00000006774.5 ENSMUST00000006774.6 ENSMUST00000006774.7 ENSMUST00000006774.8 ENSMUST00000006774.9 G3X8R4 G3X8R4_MOUSE Gtf2h1 NM_008186 uc009gzk.1 uc009gzk.2 uc009gzk.3 uc009gzk.4 Nucleus Belongs to the TFB1 family. core TFIIH complex nucleotide-excision repair transcription, DNA-templated uc009gzk.1 uc009gzk.2 uc009gzk.3 uc009gzk.4 
ENSMUST00000006792.6 Ncr1 ENSMUST00000006792.6 natural cytotoxicity triggering receptor 1, transcript variant 1 (from RefSeq NM_010746.3) A0A0R4IZY7 A0A0R4IZY7_MOUSE ENSMUST00000006792.1 ENSMUST00000006792.2 ENSMUST00000006792.3 ENSMUST00000006792.4 ENSMUST00000006792.5 NM_010746 Ncr1 uc009exi.1 uc009exi.2 Cell membrane ; Single-pass type I membrane protein Membrane ; Single-pass type I membrane protein Belongs to the natural cytotoxicity receptor (NCR) family. membrane integral component of membrane uc009exi.1 uc009exi.2 
ENSMUST00000006818.4 Tcf23 ENSMUST00000006818.4 transcription factor 23 (from RefSeq NM_053085.2) ENSMUST00000006818.1 ENSMUST00000006818.2 ENSMUST00000006818.3 NM_053085 Out Q9JLR5 TCF23_MOUSE uc008wws.1 uc008wws.2 uc008wws.3 Inhibits E-box-mediated binding and transactivation of bHLH factors. Inhibitory effect is similar to that of ID proteins. Inhibits the formation of TCF3 and MYOD1 homodimers and heterodimers. Lacks DNA binding activity. May be involved in the regulation or modulation of smooth muscle contraction of the uterus during pregnancy and particularly around the time of delivery. Seems to play a role in the inhibition of myogenesis. Forms inactive heterodimeric complex with TCF3. Nucleus Highly expressed in the uterus (predominantly in myometrium), ovary, and testis. Expression in the uterus is higher in the diestrus phase than in the estrus phase and reaches a maximum at 7.5 dpc. Expression declines towards the time of delivery and returns to the non-pregnant level 4 days after delivery. Low expression seen in lung, heart, intestine, and spleen. Both the bHLH region and the C-terminal portion are essential for inhibitory function. nucleus multicellular organism development muscle organ development positive regulation of gene expression cell differentiation decidualization protein dimerization activity uc008wws.1 uc008wws.2 uc008wws.3 
ENSMUST00000006825.9 Nphs1 ENSMUST00000006825.9 nephrosis 1, nephrin (from RefSeq NM_019459.2) D2KXA7 ENSMUST00000006825.1 ENSMUST00000006825.2 ENSMUST00000006825.3 ENSMUST00000006825.4 ENSMUST00000006825.5 ENSMUST00000006825.6 ENSMUST00000006825.7 ENSMUST00000006825.8 NM_019459 NPHN_MOUSE Nphn Q811S5 Q925S5 Q9ESC6 Q9ET59 Q9JIX1 Q9QZS7 uc009gen.1 uc009gen.2 uc009gen.3 Seems to play a role in the development or function of the kidney glomerular filtration barrier. Regulates glomerular vascular permeability. May anchor the podocyte slit diaphragm to the actin cytoskeleton. Plays a role in skeletal muscle formation through regulation of myoblast fusion. Interacts with NPHS2 and with CD2AP (via C-terminal domain). Interacts with MAGI1 (via PDZ 2 and 3 domains) forming a tripartite complex with IGSF5/JAM4. Forms a complex with ACTN4, CASK, IQGAP1, MAGI2, SPTAN1 and SPTBN1 (By similarity). Interacts with DDN; the interaction is direct. Self-associates (via the Ig-like domains). Also interacts (via the Ig-like domains) with KIRREL1 and KIRREL2; the interaction with KIRREL1 is dependent on KIRREL1 glycosylation. Interacts with KIRREL3 (PubMed:15843475, PubMed:18752272). Interacts with phosphatidylinositol 3-kinase regulatory subunit PIK3R1; the interaction is reduced by high glucose levels (By similarity). Cell membrane ; Single-pass type I membrane protein Note=Located at podocyte slit diaphragm between podocyte foot processes. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=NephrinA; IsoId=Q9QZS7-1; Sequence=Displayed; Name=2; Synonyms=NephrinB; IsoId=Q9QZS7-2; Sequence=VSP_040676; Expressed in kidney glomeruli. In the embryo, expressed in the mesonephric kidney at 11 dpc with strong expression in cranial tubules with podocyte-like structures. Expression is observed in the podocytes of the developing kidney from 13 dpc. High expression is also detected in the developing cerebellum, hindbrain, spinal cord, retina and hypothalamus. Expressed in skeletal muscle during myoblast fusion such as in the adult following acute injury and in the embryo but not detected in uninjured adult skeletal muscle. Isoform 1 and isoform 2 are expressed in the newborn brain and developing cerebellum. Isoform 1 is the predominant isoform in adult kidney. Phosphorylated at Tyr-1208 by FYN, leading to the recruitment and activation of phospholipase C-gamma-1/PLCG1 (By similarity). Tyrosine phosphorylation is reduced by high glucose levels (By similarity). Dephosphorylated by tensin TNS2 which leads to reduced binding of NPHN1 to PIK3R1 (By similarity). Death by postnatal day 2 associated with proteinuria, edema and massive glomerular vascular leak. Kidneys display enlarged Bowman's spaces, dilated tubuli, effacement of podocyte foot processes and an absence of the glomerular epithelial slit diaphragm. Impaired skeletal muscle development characterized by incomplete myoblast fusion. Belongs to the immunoglobulin superfamily. MAPK cascade protein binding plasma membrane integral component of plasma membrane focal adhesion cell adhesion JNK cascade multicellular organism development muscle organ development skeletal muscle tissue development myoblast fusion membrane integral component of membrane myosin binding protein domain specific binding spectrin binding positive regulation of actin filament polymerization glomerular basement membrane development macromolecular complex protein localization to synapse slit diaphragm cell projection regulation of excretion membrane raft alpha-actinin binding glomerular visceral epithelial cell development uc009gen.1 uc009gen.2 uc009gen.3 
ENSMUST00000006828.9 Aplp1 ENSMUST00000006828.9 amyloid beta precursor like protein 1 (from RefSeq NM_007467.4) A0A0R4IZZ1 APLP1_MOUSE ENSMUST00000006828.1 ENSMUST00000006828.2 ENSMUST00000006828.3 ENSMUST00000006828.4 ENSMUST00000006828.5 ENSMUST00000006828.6 ENSMUST00000006828.7 ENSMUST00000006828.8 NM_007467 Q03157 Q3U311 Q8VC38 uc009gek.1 uc009gek.2 uc009gek.3 uc009gek.4 May play a role in postsynaptic function. The C-terminal gamma-secretase processed fragment, ALID1, activates transcription activation through APBB1 (Fe65) binding. Couples to JIP signal transduction through C-terminal binding. May interact with cellular G- protein signaling pathways. Can regulate neurite outgrowth through binding to components of the extracellular matrix such as heparin and collagen I. The gamma-CTF peptide, C30, is a potent enhancer of neuronal apoptosis. Monomer and homodimer. Heparin binding promotes homodimerization. Binds, via its C-terminus, to the PID domain of several cytoplasmic proteins, including APBB and APBA family members, MAPK8IP1 and DAB1 (By similarity). Binding to Dab1 inhibits its serine phosphorylation. Interacts with CPEB1. Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif. Interacts (via NPXY motif) with DAB1. Q03157; P12023: App; NbExp=4; IntAct=EBI-399929, EBI-78814; Q03157; P97318: Dab1; NbExp=4; IntAct=EBI-399929, EBI-81680; Cell membrane; Single-pass type I membrane protein. [C30]: Cytoplasm. Note=C-terminally processed in the Golgi complex. The NPXY sequence motif found in many tyrosine-phosphorylated proteins is required for the specific binding of the PID domain. However, additional amino acids either N- or C-terminal to the NPXY motif are often required for complete interaction. The NPXY site is also involved in clathrin-mediated endocytosis. Proteolytically cleaved by caspases during neuronal apoptosis. Cleaved, in vitro, at Asp-624 by caspase-3 (By similarity). N- and O-glycosylated. Binds zinc and copper in the extracellular domain. Zinc- binding increases heparin binding. No Cu(2+) reducing activity with copper-binding. Belongs to the APP family. protein binding cytoplasm Golgi apparatus plasma membrane mRNA polyadenylation regulation of translation endocytosis apoptotic process cell adhesion heparin binding membrane integral component of membrane extracellular matrix organization forebrain development alpha-2A adrenergic receptor binding alpha-2B adrenergic receptor binding alpha-2C adrenergic receptor binding identical protein binding metal ion binding transition metal ion binding perinuclear region of cytoplasm cellular response to norepinephrine stimulus uc009gek.1 uc009gek.2 uc009gek.3 uc009gek.4 
ENSMUST00000006838.16 Qars1 ENSMUST00000006838.16 glutaminyl-tRNA synthetase 1 (from RefSeq NM_133794.2) ENSMUST00000006838.1 ENSMUST00000006838.10 ENSMUST00000006838.11 ENSMUST00000006838.12 ENSMUST00000006838.13 ENSMUST00000006838.14 ENSMUST00000006838.15 ENSMUST00000006838.2 ENSMUST00000006838.3 ENSMUST00000006838.4 ENSMUST00000006838.5 ENSMUST00000006838.6 ENSMUST00000006838.7 ENSMUST00000006838.8 ENSMUST00000006838.9 NM_133794 Q3TN94 Q8BML9 Q8BU21 Qars SYQ_MOUSE uc009rpy.1 uc009rpy.2 uc009rpy.3 uc009rpy.4 Glutamine--tRNA ligase. Plays a critical role in brain development. Reaction=ATP + L-glutamine + tRNA(Gln) = AMP + diphosphate + L- glutaminyl-tRNA(Gln); Xref=Rhea:RHEA:20121, Rhea:RHEA-COMP:9662, Rhea:RHEA-COMP:9681, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58359, ChEBI:CHEBI:78442, ChEBI:CHEBI:78521, ChEBI:CHEBI:456215; EC=6.1.1.18; Evidence=; Monomer. Part of a multisubunit complex that groups tRNA ligases for Arg (RARS1), Asp (DARS1), Gln (QARS1), Ile (IARS1), Leu (LARS1), Lys (KARS1), Met (MARS1) the bifunctional ligase for Glu and Pro (EPRS1) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:12060739). Interacts with RARS1. Part of a complex composed of RARS1, QARS1 and AIMP1 (By similarity). Cytoplasm, cytosol Cytoplasm Belongs to the class-I aminoacyl-tRNA synthetase family. nucleotide binding RNA binding aminoacyl-tRNA ligase activity glutamine-tRNA ligase activity protein kinase inhibitor activity ATP binding cytoplasm cytosol translation tRNA aminoacylation for protein translation glutaminyl-tRNA aminoacylation negative regulation of protein kinase activity brain development ligase activity aminoacyl-tRNA synthetase multienzyme complex protein kinase binding negative regulation of stress-activated MAPK cascade macromolecular complex tRNA aminoacylation negative regulation of apoptotic process negative regulation of transcription, DNA-templated negative regulation of apoptotic signaling pathway uc009rpy.1 uc009rpy.2 uc009rpy.3 uc009rpy.4 
ENSMUST00000006851.15 Qrich1 ENSMUST00000006851.15 glutamine-rich 1, transcript variant 1 (from RefSeq NM_001114119.1) ENSMUST00000006851.1 ENSMUST00000006851.10 ENSMUST00000006851.11 ENSMUST00000006851.12 ENSMUST00000006851.13 ENSMUST00000006851.14 ENSMUST00000006851.2 ENSMUST00000006851.3 ENSMUST00000006851.4 ENSMUST00000006851.5 ENSMUST00000006851.6 ENSMUST00000006851.7 ENSMUST00000006851.8 ENSMUST00000006851.9 G3X8R5 G3X8R5_MOUSE NM_001114119 Qrich1 uc009rqd.1 uc009rqd.2 uc009rqd.3 uc009rqd.4 nucleoplasm uc009rqd.1 uc009rqd.2 uc009rqd.3 uc009rqd.4 
ENSMUST00000006853.11 P4htm ENSMUST00000006853.11 prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum), transcript variant 3 (from RefSeq NR_151688.1) ENSMUST00000006853.1 ENSMUST00000006853.10 ENSMUST00000006853.2 ENSMUST00000006853.3 ENSMUST00000006853.4 ENSMUST00000006853.5 ENSMUST00000006853.6 ENSMUST00000006853.7 ENSMUST00000006853.8 ENSMUST00000006853.9 NR_151688 P4HTM_MOUSE Ph4 Q8BG58 Q8CAF1 Q9D499 uc009rqk.1 uc009rqk.2 uc009rqk.3 Catalyzes the post-translational formation of 4- hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF1A at 'Pro-402' and 'Pro-564'. May function as a cellular oxygen sensor and, under normoxic conditions, may target HIF through the hydroxylation for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Reaction=2-oxoglutarate + L-prolyl-[hypoxia-inducible factor alpha subunit] + O2 = CO2 + succinate + trans-4-hydroxy-L-prolyl-[hypoxia- inducible factor alpha subunit]; Xref=Rhea:RHEA:48400, Rhea:RHEA- COMP:12093, Rhea:RHEA-COMP:12094, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:50342, ChEBI:CHEBI:61965; EC=1.14.11.29; Evidence=; Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; Note=Binds 1 Fe(2+) ion per subunit. Name=L-ascorbate; Xref=ChEBI:CHEBI:38290; Evidence=; Homodimer. Endoplasmic reticulum membrane ; Single-pass type II membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BG58-1; Sequence=Displayed; Name=2; IsoId=Q8BG58-2; Sequence=VSP_007575, VSP_007576; Highest expression levels are detected in the eye and brain, especially in the retinal epithelium cells and cortical neurons. Also expressed in skeletal muscle, lung, heart, adrenal gland, kidney, prostate, thyroid and testis. Glycosylated. Mutant mice exhibit inflammation and fibrosis of renal tubuli, glomerular sclerosis, enlarged Bowman capsules, and develop late-onset proteinuria. Vision is compromised, primarily due to impairment of cone function. Sequence=BAB30379.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence=; Sequence=BAC30172.1; Type=Frameshift; Evidence=; iron ion binding calcium ion binding endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors peptidyl-proline hydroxylation to 4-hydroxy-L-proline L-ascorbic acid binding regulation of erythrocyte differentiation metal ion binding dioxygenase activity oxidation-reduction process procollagen-proline 4-dioxygenase activity uc009rqk.1 uc009rqk.2 uc009rqk.3 
ENSMUST00000006854.13 Usp19 ENSMUST00000006854.13 ubiquitin specific peptidase 19, transcript variant 1 (from RefSeq NM_027804.4) ENSMUST00000006854.1 ENSMUST00000006854.10 ENSMUST00000006854.11 ENSMUST00000006854.12 ENSMUST00000006854.2 ENSMUST00000006854.3 ENSMUST00000006854.4 ENSMUST00000006854.5 ENSMUST00000006854.6 ENSMUST00000006854.7 ENSMUST00000006854.8 ENSMUST00000006854.9 Kiaa0891 NM_027804 Q3TAC9 Q3TUE6 Q3UJD6 Q6P9T0 Q80TP5 Q80ZW5 UBP19_MOUSE uc009rpt.1 uc009rpt.2 uc009rpt.3 uc009rpt.4 Deubiquitinating enzyme that regulates the degradation of various proteins. Deubiquitinates and prevents proteasomal degradation of RNF123 which in turn stimulates CDKN1B ubiquitin-dependent degradation thereby playing a role in cell proliferation. Involved in decreased protein synthesis in atrophying skeletal muscle. Modulates transcription of major myofibrillar proteins. Also involved in turnover of endoplasmic-reticulum-associated degradation (ERAD) substrates (By similarity). Regulates the stability of BIRC2/c-IAP1 and BIRC3/c-IAP2 by preventing thier ubiquitination. Required for cells to mount an appropriate response to hypoxia and rescues HIF1A from degradation in a non-catalytic manner. Exhibits a preference towards 'Lys-63'-linked ubiquitin chains (By similarity). Plays an important role in 17 beta- estradiol (E2)-inhibited myogenesis. Decreases the levels of ubiquitinated proteins during skeletal muscle formation and acts to repress myogenesis. Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76- residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Interacts with and stabilizes RNF123 (By similarity). Interacts with BIRC2/c-IAP1, BIRC3/c-IAP2 and XIAP/BIRC4. Interacts with HIF1A (via N-terminus) (By similarity). Q3UJD6-2; O75344: FKBP6; Xeno; NbExp=2; IntAct=EBI-9359023, EBI-744771; Endoplasmic reticulum membrane ; Single-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q3UJD6-1; Sequence=Displayed; Name=2; IsoId=Q3UJD6-2; Sequence=VSP_026769, VSP_026770; Up-regulated by ESR1 in the presence of 17 beta-estradiol (E2). Sequence=BAC65678.4; Type=Erroneous initiation; Evidence=; thiol-dependent ubiquitin-specific protease activity protein binding endoplasmic reticulum endoplasmic reticulum membrane cytosol proteolysis ubiquitin-dependent protein catabolic process peptidase activity cysteine-type peptidase activity membrane integral component of membrane protein deubiquitination hydrolase activity ER-associated ubiquitin-dependent protein catabolic process ubiquitin protein ligase binding regulation of protein stability response to endoplasmic reticulum stress thiol-dependent ubiquitinyl hydrolase activity metal ion binding negative regulation of skeletal muscle tissue development protein stabilization Hsp90 protein binding protein K48-linked deubiquitination positive regulation of cell cycle process regulation of cellular response to hypoxia negative regulation of proteasomal protein catabolic process regulation of ERAD pathway Lys48-specific deubiquitinase activity uc009rpt.1 uc009rpt.2 uc009rpt.3 uc009rpt.4 
ENSMUST00000006856.3 Pola1 ENSMUST00000006856.3 polymerase (DNA directed), alpha 1 (from RefSeq NM_008892.2) DPOLA_MOUSE ENSMUST00000006856.1 ENSMUST00000006856.2 NM_008892 P33609 Pola uc009tss.1 uc009tss.2 uc009tss.3 uc009tss.4 Catalytic subunit of the DNA polymerase alpha complex (also known as the alpha DNA polymerase-primase complex) which plays an essential role in the initiation of DNA synthesis (PubMed:8253737, PubMed:8026492). During the S phase of the cell cycle, the DNA polymerase alpha complex (composed of a catalytic subunit POLA1, a regulatory subunit POLA2 and two primase subunits PRIM1 and PRIM2) is recruited to DNA at the replicative forks via direct interactions with MCM10 and WDHD1. The primase subunit of the polymerase alpha complex initiates DNA synthesis by oligomerising short RNA primers on both leading and lagging strands. These primers are initially extended by the polymerase alpha catalytic subunit and subsequently transferred to polymerase delta and polymerase epsilon for processive synthesis on the lagging and leading strand, respectively. The reason this transfer occurs is because the polymerase alpha has limited processivity and lacks intrinsic 3' exonuclease activity for proofreading error, and therefore is not well suited for replicating long complexes. In the cytosol, responsible for a substantial proportion of the physiological concentration of cytosolic RNA:DNA hybrids, which are necessary to prevent spontaneous activation of type I interferon responses. Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1); Xref=Rhea:RHEA:22508, Rhea:RHEA-COMP:17339, Rhea:RHEA-COMP:17340, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:173112; EC=2.7.7.7; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22509; Evidence=; Component of the alpha DNA polymerase complex (also known as the alpha DNA polymerase-primase complex) consisting of four subunits: the catalytic subunit POLA1, the regulatory subunit POLA2, and the primase complex subunits PRIM1 and PRIM2 respectively (PubMed:8253737, PubMed:8026492). Within the complex, POLA1 directly interacts with PRIM2 (PubMed:8253737). Interacts with PARP1; this interaction functions as part of the control of replication fork progression. Interacts with MCM10 and WDHD1; these interactions recruit the polymerase alpha complex to the pre-replicative complex bound to DNA. Interacts with RPA1; this interaction stabilizes the replicative complex and reduces the misincorporation rate of DNA polymerase alpha by acting as a fidelity clamp (By similarity). P33609; P33611: Pola2; NbExp=5; IntAct=EBI-688051, EBI-848759; P33609; P20664: Prim1; NbExp=4; IntAct=EBI-688051, EBI-848742; Nucleus Cytoplasm, cytosol Note=In the cytosol, colocalizes with RNA:DNA hybrids with a speckled pattern. Expressed in those zones containing proliferating cells in the developing embryonic neocortex, as well as in the lateral and medial ganglionic eminences. After birth, expressed in cells that remain proliferating in the ventricular and subventricular zone of the striatum. In eukaryotes there are five DNA polymerases: alpha, beta, gamma, delta, and epsilon which are responsible for different reactions of DNA synthesis. Conserved regions II, IV, III and I are thought to be involved in substrate recognition, binding or PP(i) hydrolysis. Belongs to the DNA polymerase type-B family. nucleotide binding DNA synthesis involved in DNA repair nucleoside binding nucleic acid binding DNA binding chromatin binding DNA replication origin binding double-stranded DNA binding single-stranded DNA binding DNA-directed DNA polymerase activity protein binding nucleus nuclear envelope nucleoplasm alpha DNA polymerase:primase complex nucleolus cytoplasm cytosol DNA replication DNA replication, synthesis of RNA primer DNA replication initiation DNA strand elongation involved in DNA replication leading strand elongation lagging strand elongation double-strand break repair via nonhomologous end joining cell proliferation nuclear matrix transferase activity nucleotidyltransferase activity purine nucleotide binding pyrimidine nucleotide binding protein kinase binding metal ion binding protein heterodimerization activity iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding DNA biosynthetic process mitotic DNA replication initiation chromatin DNA repair DNA synthesis involved in UV-damage excision repair uc009tss.1 uc009tss.2 uc009tss.3 uc009tss.4 
ENSMUST00000006893.9 D130043K22Rik ENSMUST00000006893.9 RIKEN cDNA D130043K22 gene, transcript variant 1 (from RefSeq NM_001081051.2) ENSMUST00000006893.1 ENSMUST00000006893.2 ENSMUST00000006893.3 ENSMUST00000006893.4 ENSMUST00000006893.5 ENSMUST00000006893.6 ENSMUST00000006893.7 ENSMUST00000006893.8 K0319_MOUSE Kiaa0319 NM_001081051 Q14BF3 Q5SZV5 Q80U39 uc007pwn.1 uc007pwn.2 uc007pwn.3 uc007pwn.4 This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in a similar gene in human are associated with dyslexia. Alternatively spliced transcript variants have been identifed. [provided by RefSeq, May 2015]. Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites (By similarity). Homodimer. Interacts with AP2M1; required for clathrin- mediated endocytosis (By similarity). Cell membrane ; Single-pass type I membrane protein Early endosome membrane ; Single-pass type I membrane protein Expressed in the frontal neocortex, glanglionic eminence, mesencephalon and cerebellum at 13.5 dpc. More prominently expressed in the developing cerebral neocortex and mesencephalon at 15.5 dpc and in the cortical plate and in the remnant of the ventricular zone at 18.5 dpc. N-glycosylated. O-glycosylated. Shedding of the extracellular domain and intramembrane cleavage produce several proteolytic products. The intramembrane cleavage releases a soluble cytoplasmic polypeptide that translocates to the nucleolus (By similarity). Sequence=BAC65528.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; neuron migration molecular_function endosome early endosome plasma membrane multicellular organism development nervous system development response to auditory stimulus membrane integral component of membrane cytoplasmic vesicle early endosome membrane multicellular organismal response to stress intracellular membrane-bounded organelle negative regulation of dendrite development neurogenesis uc007pwn.1 uc007pwn.2 uc007pwn.3 uc007pwn.4 
ENSMUST00000006900.7 Acot13 ENSMUST00000006900.7 acyl-CoA thioesterase 13 (from RefSeq NM_025790.2) ACO13_MOUSE Acot13 ENSMUST00000006900.1 ENSMUST00000006900.2 ENSMUST00000006900.3 ENSMUST00000006900.4 ENSMUST00000006900.5 ENSMUST00000006900.6 NM_025790 Q9CQR4 Them2 uc007pwj.1 uc007pwj.2 uc007pwj.3 Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels (PubMed:19405909). Has acyl-CoA thioesterase activity towards medium (C12) and long-chain (C18) fatty acyl-CoA substrates (PubMed:19405909). Can also hydrolyze 3-hydroxyphenylacetyl-CoA and 3,4-dihydroxyphenylacetyl-CoA (in vitro) (By similarity). May play a role in controlling adaptive thermogenesis (PubMed:24072708). Reaction=a fatty acyl-CoA + H2O = a fatty acid + CoA + H(+); Xref=Rhea:RHEA:16781, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28868, ChEBI:CHEBI:57287, ChEBI:CHEBI:77636; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16782; Evidence=; Reaction=decanoyl-CoA + H2O = CoA + decanoate + H(+); Xref=Rhea:RHEA:40059, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:27689, ChEBI:CHEBI:57287, ChEBI:CHEBI:61430; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40060; Evidence=; Reaction=H2O + octanoyl-CoA = CoA + H(+) + octanoate; Xref=Rhea:RHEA:30143, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:25646, ChEBI:CHEBI:57287, ChEBI:CHEBI:57386; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:30144; Evidence=; Reaction=butanoyl-CoA + H2O = butanoate + CoA + H(+); Xref=Rhea:RHEA:40111, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17968, ChEBI:CHEBI:57287, ChEBI:CHEBI:57371; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40112; Evidence=; Reaction=H2O + hexanoyl-CoA = CoA + H(+) + hexanoate; Xref=Rhea:RHEA:40115, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17120, ChEBI:CHEBI:57287, ChEBI:CHEBI:62620; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40116; Evidence=; Reaction=H2O + tetradecanoyl-CoA = CoA + H(+) + tetradecanoate; Xref=Rhea:RHEA:40119, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30807, ChEBI:CHEBI:57287, ChEBI:CHEBI:57385; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40120; Evidence=; Reaction=H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate; Xref=Rhea:RHEA:16645, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379; EC=3.1.2.2; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16646; Evidence=; Reaction=dodecanoyl-CoA + H2O = CoA + dodecanoate + H(+); Xref=Rhea:RHEA:30135, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:18262, ChEBI:CHEBI:57287, ChEBI:CHEBI:57375; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:30136; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + H2O = (9Z)-octadecenoate + CoA + H(+); Xref=Rhea:RHEA:40139, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40140; Evidence=; Kinetic parameters: KM=138 uM for hexanoyl-CoA (at 37 degrees Celsius) ; KM=47 uM for decanoyl-CoA (at 37 degrees Celsius) ; KM=27 uM for lauroyl-CoA/dodecanoyl-CoA (at 37 degrees Celsius) ; KM=15 uM for myristoyl-CoA/tetradecanoyl-CoA (at 37 degrees Celsius) ; KM=7 uM for myristoyl-CoA/tetradecanoyl-CoA (at 25 degrees Celsius) ; KM=21 uM for myristoyl-CoA/tetradecanoyl-CoA (at 50 degrees Celsius) ; KM=10 uM for palmitoyl-CoA/hexadecanoyl-CoA (at 37 degrees Celsius) ; KM=27 uM for oleoyl-CoA/(9Z)-octadecenoyl-CoA (at 37 degrees Celsius) ; KM=162 uM for beta-hydroxybutyryl-CoA (at 37 degrees Celsius) ; KM=305 uM for (3S)-hydroxy-3-methylglutaryl-CoA (at 37 degrees Celsius) ; KM=142 uM for malonyl-CoA (at 37 degrees Celsius) ; KM=191 uM for phenylacetyl-CoA (at 37 degrees Celsius) ; Vmax=29 nmol/min/mg enzyme with hexanoyl-CoA as substrate (at 37 degrees Celsius) ; Vmax=54 nmol/min/mg enzyme with decanoyl-CoA as substrate (at 37 degrees Celsius) ; Vmax=37 nmol/min/mg enzyme with dodecanoyl-CoA as substrate (at 37 degrees Celsius) ; Vmax=46 nmol/min/mg enzyme with tetradecanoyl-CoA as substrate (at 37 degrees Celsius) ; Vmax=30 nmol/min/mg enzyme with tetradecanoyl-CoA as substrate (at 25 degrees Celsius) ; Vmax=61 nmol/min/mg enzyme with tetradecanoyl-CoA as substrate (at 50 degrees Celsius) ; Vmax=38 nmol/min/mg enzyme with hexadecanoyl-CoA as substrate (at 37 degrees Celsius) ; Vmax=60 nmol/min/mg enzyme with (9Z)-octadecenoyl-CoA as substrate (at 37 degrees Celsius) ; Vmax=45 nmol/min/mg enzyme with beta-hydroxybutyryl-CoA as substrate (at 37 degrees Celsius) ; Vmax=6 nmol/min/mg enzyme with (3S)-hydroxy-3-methylglutaryl-CoA as substrate (at 37 degrees Celsius) ; Vmax=14 nmol/min/mg enzyme with malonyl-CoA as substrate (at 37 degrees Celsius) ; Vmax=119 nmol/min/mg enzyme with phenylacetyl-CoA as substrate (at 37 degrees Celsius) ; Note=kcat is 3 sec(-1) for hexanoyl-CoA hydrolase activity (at 37 degrees Celsius) (PubMed:19405909). kcat is 5 sec(-1) for decanoyl- CoA hydrolase activity (at 37 degrees Celsius) (PubMed:19405909). kcat is 3 sec(-1) for dodecanoyl-CoA hydrolase activity (at 37 degrees Celsius) (PubMed:19405909). kcat is 4 sec(-1) for tetradecanoyl-CoA hydrolase activity (at 37 degrees Celsius) (PubMed:19405909). kcat is 3 sec(-1) for tetradecanoyl-CoA hydrolase activity (at 25 degrees Celsius) (PubMed:19405909). kcat is 6 sec(-1) for tetradecanoyl-CoA hydrolase activity (at 50 degrees Celsius) (PubMed:19405909). kcat is 3 sec(-1) for hexadecanoyl-CoA hydrolase activity (at 37 degrees Celsius) (PubMed:19405909). kcat is 6 sec(-1) for (9Z)-octadecenoyl-CoA hydrolase activity (at 37 degrees Celsius) (PubMed:19405909). kcat is 4 sec(-1) for beta-hydroxybutyryl-CoA hydrolase activity (at 37 degrees Celsius) (PubMed:19405909). kcat is 7 sec(-1) for (3S)-hydroxy-3-methylglutaryl-CoA hydrolase activity (at 37 degrees Celsius) (PubMed:19405909). kcat is 1 sec(-1) for malonyl-CoA hydrolase activity (at 37 degrees Celsius) (PubMed:19405909). kcat is 1 sec(-1) for phenylacetyl-CoA hydrolase activity (at 37 degrees Celsius) (PubMed:19405909). ; Homotetramer. Interacts with PCTP. Cytoplasm, cytosol Mitochondrion Nucleus Cytoplasm, cytoskeleton, spindle Note=During interphase, found both in the nucleus and in the cytoplasm. At mitosis, localizes to the spindle. Colocalizes with tubulin. Highly expressed in the kidney and moderately in the heart, liver, brain, small and large intestine. Also expressed in brown adipose tissue. No visible phenotype until 7 weeks of age. Animals are viable and fertile. After 7 weeks, mutant mice exhibit a modest decrease in body weight and decreased adiposity, compared to wild-type animals, despite increased food consumption. They tend to show a reduced hepatic fatty acyl-CoA thioesterase activity, leading to alterations in fatty acid metabolism and improved glucose homeostasis. When fed a high-fat diet, mutant livers are protected against steatosis and increased hepatic glucose production (PubMed:22345407). Mutant mice adapt more rapidly than wild-type to short-term cold exposure by increasing physical activity, food consumption and energy expenditure. After 96-hour equilibration at cold temperature, genotype-dependent differences are abolished. Mutant brown adipose tissue show reduced lipid droplets, alterations in the ultrastructure of mitochondria and a small increase in the expression of thermogenic genes (PubMed:24072708). Belongs to the thioesterase PaaI family. nucleus cytoplasm mitochondrion spindle cytosol cytoskeleton hydrolase activity acyl-CoA hydrolase activity protein homotetramerization uc007pwj.1 uc007pwj.2 uc007pwj.3 
ENSMUST00000006911.12 Cdk4 ENSMUST00000006911.12 cyclin dependent kinase 4, transcript variant 1 (from RefSeq NM_009870.4) Cdk4 ENSMUST00000006911.1 ENSMUST00000006911.10 ENSMUST00000006911.11 ENSMUST00000006911.2 ENSMUST00000006911.3 ENSMUST00000006911.4 ENSMUST00000006911.5 ENSMUST00000006911.6 ENSMUST00000006911.7 ENSMUST00000006911.8 ENSMUST00000006911.9 NM_009870 Q545C3 Q545C3_MOUSE uc007hhv.1 uc007hhv.2 uc007hhv.3 uc007hhv.4 uc007hhv.5 Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.22; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.22; Evidence=; Nucleus membrane Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. G1/S transition of mitotic cell cycle nucleotide binding cyclin-dependent protein kinase holoenzyme complex chromatin lens development in camera-type eye protein kinase activity protein serine/threonine kinase activity cyclin-dependent protein serine/threonine kinase activity ATP binding nucleus nucleolus cytosol protein phosphorylation circadian rhythm positive regulation of cell proliferation response to toxic substance response to organic substance response to lead ion regulation of gene expression positive regulation of G2/M transition of mitotic cell cycle cyclin binding animal organ regeneration nuclear membrane response to testosterone response to drug positive regulation of apoptotic process macromolecular complex binding positive regulation of translation positive regulation of cell size positive regulation of fibroblast proliferation perinuclear region of cytoplasm response to hyperoxia negative regulation of cell cycle arrest uc007hhv.1 uc007hhv.2 uc007hhv.3 uc007hhv.4 uc007hhv.5 
ENSMUST00000006912.12 Pip4k2a ENSMUST00000006912.12 phosphatidylinositol-5-phosphate 4-kinase, type II, alpha, transcript variant 1 (from RefSeq NM_008845.4) ENSMUST00000006912.1 ENSMUST00000006912.10 ENSMUST00000006912.11 ENSMUST00000006912.2 ENSMUST00000006912.3 ENSMUST00000006912.4 ENSMUST00000006912.5 ENSMUST00000006912.6 ENSMUST00000006912.7 ENSMUST00000006912.8 ENSMUST00000006912.9 NM_008845 Pip4k2a Pip5k2a Q544E3 Q544E3_MOUSE uc008imb.1 uc008imb.2 uc008imb.3 Reaction=1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5- phosphate) + ATP = 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo- inositol-4,5-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:55992, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:83423, ChEBI:CHEBI:84968, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55993; Evidence=; Reaction=1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5- phosphate) + GTP = 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo- inositol-4,5-bisphosphate) + GDP + H(+); Xref=Rhea:RHEA:55964, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:58189, ChEBI:CHEBI:83423, ChEBI:CHEBI:84968; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55965; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5- phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo- inositol-4,5-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:12280, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57795, ChEBI:CHEBI:58456, ChEBI:CHEBI:456216; EC=2.7.1.149; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:12281; Evidence=; Cell membrane Cytoplasm Lysosome Membrane Nucleus nucleotide binding ATP binding autophagosome regulation of autophagy kinase activity phosphatidylinositol phosphate kinase activity phosphorylation transferase activity phosphatidylinositol metabolic process phosphatidylinositol phosphorylation positive regulation of autophagosome assembly uc008imb.1 uc008imb.2 uc008imb.3 
ENSMUST00000006914.11 B4galnt1 ENSMUST00000006914.11 beta-1,4-N-acetyl-galactosaminyl transferase 1, transcript variant 2 (from RefSeq NM_027739.2) B4galnt1 ENSMUST00000006914.1 ENSMUST00000006914.10 ENSMUST00000006914.2 ENSMUST00000006914.3 ENSMUST00000006914.4 ENSMUST00000006914.5 ENSMUST00000006914.6 ENSMUST00000006914.7 ENSMUST00000006914.8 ENSMUST00000006914.9 Galgt1 NM_027739 Q3UN35 Q3UN35_MOUSE uc007hic.1 uc007hic.2 uc007hic.3 uc007hic.4 Golgi apparatus membrane ; Single-pass type II membrane protein Membrane ; Single-pass type II membrane protein Belongs to the glycosyltransferase 2 family. Golgi membrane ganglioside biosynthetic process (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity Golgi apparatus plasma membrane acetylgalactosaminyltransferase activity membrane transferase activity transferase activity, transferring glycosyl groups transferase activity, transferring hexosyl groups integral component of Golgi membrane lipid glycosylation uc007hic.1 uc007hic.2 uc007hic.3 uc007hic.4 
ENSMUST00000006915.14 Mettl1 ENSMUST00000006915.14 methyltransferase 1, tRNA methylguanosine (from RefSeq NM_010792.1) ENSMUST00000006915.1 ENSMUST00000006915.10 ENSMUST00000006915.11 ENSMUST00000006915.12 ENSMUST00000006915.13 ENSMUST00000006915.2 ENSMUST00000006915.3 ENSMUST00000006915.4 ENSMUST00000006915.5 ENSMUST00000006915.6 ENSMUST00000006915.7 ENSMUST00000006915.8 ENSMUST00000006915.9 Mettl1 NM_010792 Q3TU83 Q921G5 Q9Z120 TRMB_MOUSE uc007hhq.1 uc007hhq.2 uc007hhq.3 Catalytic component of METTL1-WDR4 methyltransferase complex that mediates the formation of N(7)-methylguanine in a subset of RNA species, such as tRNAs, mRNAs and microRNAs (miRNAs) (By similarity). Catalyzes the formation of N(7)-methylguanine at position 46 (m7G46) in a large subset of tRNAs that contain the 5'-RAGGU-3' motif within the variable loop (By similarity). M7G46 interacts with C13-G22 in the D- loop to stabilize tRNA tertiary structure and protect tRNAs from decay (By similarity). Also acts as a methyltransferase for a subset of internal N(7)-methylguanine in mRNAs (PubMed:29983320). Internal N(7)- methylguanine methylation of mRNAs in response to stress promotes their relocalization to stress granules, thereby suppressing their translation (PubMed:29983320). Also methylates a specific subset of miRNAs, such as let-7 (By similarity). N(7)-methylguanine methylation of let-7 miRNA promotes let-7 miRNA processing by disrupting an inhibitory secondary structure within the primary miRNA transcript (pri-miRNA) (By similarity). Acts as a regulator of embryonic stem cell self-renewal and differentiation (PubMed:29983320). Reaction=guanosine(46) in tRNA + S-adenosyl-L-methionine = N(7)- methylguanosine(46) in tRNA + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:42708, Rhea:RHEA-COMP:10188, Rhea:RHEA-COMP:10189, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74269, ChEBI:CHEBI:74480; EC=2.1.1.33; Evidence= Reaction=a guanosine in mRNA + S-adenosyl-L-methionine = an N(7)- methylguanosine in mRNA + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60508, Rhea:RHEA-COMP:15584, Rhea:RHEA-COMP:15585, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74269, ChEBI:CHEBI:74480; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60509; Evidence=; Reaction=a guanosine in miRNA + S-adenosyl-L-methionine = an N(7)- methylguanosine in miRNA + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60512, Rhea:RHEA-COMP:15587, Rhea:RHEA-COMP:15588, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74269, ChEBI:CHEBI:74480; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60513; Evidence=; tRNA modification; N(7)-methylguanine-tRNA biosynthesis. Catalytic component of the METTL1-WDR4 complex, composed of METTL1 and WDR4. Nucleus Upon tRNA-binding, the alphaC region transforms into a helix, which together with the alpha6 helix secures both ends of the tRNA variable loop (By similarity). The N-terminal disordered region is part of the catalytic pocket and essential for methyltransferase activity: upon S-adenosyl-L-methionine- and tRNA-binding, the N-terminal disordered region becomes ordered, sandwiched between the bound cofactor and the tRNA, and the WDR4 C-terminus attaches to the METTL1 N-terminus to stabilize the bound tRNA together (By similarity). Together with WDR4, which also binds tRNAs, tRNAs undergo bending to facilitate G46 flipping into the catalytic pocket to be modified (By similarity). Phosphorylation at Ser-21 by PKB/AKT1 inactivates its methyltransferase activity via a steric interference mechanism in the active site that locally disrupts the catalytic center (By similarity). Phosphorylation at Ser-21 does not affect the interaction with WDR4 (By similarity). Conditional knockout in the liver impairs the formation of N(7)-methylguanine at position 46 (m7G46) in tRNAs and inhibits tumor development in an intrahepatic cholangiocarcinoma xenograph mouse model. In the context of cancer, overexpression of the METTL1- WDR4 methyltransferase complex promotes cancer progression by driving oncogenic transformation (PubMed:34352206). Drives oncogenesis by mediating the formation of N(7)-methylguanine at position 46 (m7G46) in some tRNAs, in particular Arg-TCT-4-1 (TRR-TCT4-1), leading to increased translation of mRNAs, including cell cycle regulators that are enriched in the corresponding AGA codon (PubMed:34352206). Belongs to the class I-like SAM-binding methyltransferase superfamily. TrmB family. tRNA binding RNA binding nucleus nucleoplasm nucleolus cytosol tRNA modification tRNA processing methyltransferase activity tRNA (guanine-N7-)-methyltransferase activity transferase activity tRNA methylation methylation RNA (guanine-N7)-methylation uc007hhq.1 uc007hhq.2 uc007hhq.3 
ENSMUST00000006949.9 Tph2 ENSMUST00000006949.9 tryptophan hydroxylase 2 (from RefSeq NM_173391.3) ENSMUST00000006949.1 ENSMUST00000006949.2 ENSMUST00000006949.3 ENSMUST00000006949.4 ENSMUST00000006949.5 ENSMUST00000006949.6 ENSMUST00000006949.7 ENSMUST00000006949.8 NM_173391 Ntph Q0VBT4 Q8CGV2 TPH2_MOUSE uc007haw.1 uc007haw.2 uc007haw.3 Reaction=(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-tryptophan + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + 5- hydroxy-L-tryptophan; Xref=Rhea:RHEA:16709, ChEBI:CHEBI:15379, ChEBI:CHEBI:15642, ChEBI:CHEBI:57912, ChEBI:CHEBI:58266, ChEBI:CHEBI:59560; EC=1.14.16.4; Evidence=; Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; Aromatic compound metabolism; serotonin biosynthesis; serotonin from L-tryptophan: step 1/2. Expressed in brain. Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. monooxygenase activity tryptophan 5-monooxygenase activity iron ion binding serotonin biosynthetic process from tryptophan circadian rhythm aromatic amino acid family metabolic process response to activity oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen response to nutrient levels serotonin biosynthetic process neuron projection response to estrogen metal ion binding response to glucocorticoid response to calcium ion oxidation-reduction process cellular response to lithium ion uc007haw.1 uc007haw.2 uc007haw.3 
ENSMUST00000006952.9 Saa4 ENSMUST00000006952.9 serum amyloid A 4 (from RefSeq NM_011316.4) ENSMUST00000006952.1 ENSMUST00000006952.2 ENSMUST00000006952.3 ENSMUST00000006952.4 ENSMUST00000006952.5 ENSMUST00000006952.6 ENSMUST00000006952.7 ENSMUST00000006952.8 NM_011316 P31532 SAA4_MOUSE Saa4 Saa5 uc009gyy.1 uc009gyy.2 uc009gyy.3 uc009gyy.4 Major acute phase reactant. Apolipoprotein of the HDL complex. Secreted Expressed by the liver; secreted in plasma. Upon cytokine stimulation. Note=Reactive, secondary amyloidosis is characterized by the extracellular accumulation in various tissues of the SAA protein. These deposits are highly insoluble and resistant to proteolysis; they disrupt tissue structure and compromise function. Belongs to the SAA family. SAA4 used to be called SAA5. What was SAA4 is a pseudogene which is now called SAA-ps. extracellular region extracellular space acute-phase response high-density lipoprotein particle chemoattractant activity positive chemotaxis cell chemotaxis uc009gyy.1 uc009gyy.2 uc009gyy.3 uc009gyy.4 
ENSMUST00000006956.9 Saa3 ENSMUST00000006956.9 serum amyloid A 3 (from RefSeq NM_011315.3) ENSMUST00000006956.1 ENSMUST00000006956.2 ENSMUST00000006956.3 ENSMUST00000006956.4 ENSMUST00000006956.5 ENSMUST00000006956.6 ENSMUST00000006956.7 ENSMUST00000006956.8 NM_011315 P04918 Q62201 SAA3_MOUSE uc009gyx.1 uc009gyx.2 uc009gyx.3 Major acute phase reactant. Apolipoprotein of the HDL complex. In vitro exhibits antimicrobial activity against Escherichia coli, Streptococcus uberis and Pseudomonas aeruginosa (By similarity). Secreted Found in various tissues. Upon cytokine stimulation. Belongs to the SAA family. extracellular region extracellular space acute-phase response I-kappaB phosphorylation response to bacterium high-density lipoprotein particle response to stilbenoid Toll-like receptor 4 binding chemoattractant activity positive chemotaxis cell chemotaxis cellular response to interleukin-1 uc009gyx.1 uc009gyx.2 uc009gyx.3 
ENSMUST00000006963.3 Krt28 ENSMUST00000006963.3 keratin 28 (from RefSeq NM_027574.2) A6BLY7 ENSMUST00000006963.1 ENSMUST00000006963.2 K1C28_MOUSE Krt25d Krt28 NM_027574 Q9D637 uc007liq.1 uc007liq.2 uc007liq.3 uc007liq.4 Essential for the proper assembly of types I and II keratin protein complexes and the formation of keratin intermediate filaments in the inner root sheath (irs). Heterotetramer of two type I and two type II keratins. Cytoplasm In the hair follicle and bulb, uniformly expressed in all three layers of the inner root sheath (the Henle layer, the Huxley layer and the cuticle) and observed in matrix cells (at protein level). There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). Belongs to the intermediate filament family. structural molecule activity cytoplasm intermediate filament biological_process uc007liq.1 uc007liq.2 uc007liq.3 uc007liq.4 
ENSMUST00000006969.8 Krt23 ENSMUST00000006969.8 keratin 23 (from RefSeq NM_033373.2) ENSMUST00000006969.1 ENSMUST00000006969.2 ENSMUST00000006969.3 ENSMUST00000006969.4 ENSMUST00000006969.5 ENSMUST00000006969.6 ENSMUST00000006969.7 Haik1 K1C23_MOUSE Krt1-23 NM_033373 Q99PS0 uc007liw.1 uc007liw.2 uc007liw.3 Heterotetramer of two type I and two type II keratins. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). Belongs to the intermediate filament family. structural molecule activity intermediate filament biological_process uc007liw.1 uc007liw.2 uc007liw.3 
ENSMUST00000006973.12 Kat2a ENSMUST00000006973.12 K(lysine) acetyltransferase 2A, transcript variant 3 (from RefSeq NR_166132.1) ENSMUST00000006973.1 ENSMUST00000006973.10 ENSMUST00000006973.11 ENSMUST00000006973.2 ENSMUST00000006973.3 ENSMUST00000006973.4 ENSMUST00000006973.5 ENSMUST00000006973.6 ENSMUST00000006973.7 ENSMUST00000006973.8 ENSMUST00000006973.9 Gcn5l2 Kat2a NR_166132 Q6P3Z8 Q6P3Z8_MOUSE uc007lmb.1 uc007lmb.2 uc007lmb.3 uc007lmb.4 Reaction=acetyl-CoA + L-lysyl-[protein] = CoA + H(+) + N(6)-acetyl-L- lysyl-[protein]; Xref=Rhea:RHEA:45948, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10731, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:61930; EC=2.3.1.48; Evidence=; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Nucleus Belongs to the acetyltransferase family. GCN5 subfamily. histone acetyltransferase activity nucleus regulation of transcription, DNA-templated N-acetyltransferase activity histone acetylation transferase activity transferase activity, transferring acyl groups uc007lmb.1 uc007lmb.2 uc007lmb.3 uc007lmb.4 
ENSMUST00000006976.8 Odad4 ENSMUST00000006976.8 outer dynein arm complex subunit 4, transcript variant 2 (from RefSeq NM_001363174.1) B8A5X0 B8A5X0_MOUSE ENSMUST00000006976.1 ENSMUST00000006976.2 ENSMUST00000006976.3 ENSMUST00000006976.4 ENSMUST00000006976.5 ENSMUST00000006976.6 ENSMUST00000006976.7 NM_001363174 Odad4 uc011yfb.1 uc011yfb.2 uc011yfb.3 Cytoplasm, cytoskeleton, cilium axoneme uc011yfb.1 uc011yfb.2 uc011yfb.3 
ENSMUST00000006991.9 Hcn1 ENSMUST00000006991.9 hyperpolarization activated cyclic nucleotide gated potassium channel 1 (from RefSeq NM_010408.3) Bcng1 ENSMUST00000006991.1 ENSMUST00000006991.2 ENSMUST00000006991.3 ENSMUST00000006991.4 ENSMUST00000006991.5 ENSMUST00000006991.6 ENSMUST00000006991.7 ENSMUST00000006991.8 HCN1_MOUSE Hac2 NM_010408 O54899 O88704 Q9D613 uc007ryo.1 uc007ryo.2 uc007ryo.3 uc007ryo.4 Hyperpolarization-activated ion channel exhibiting weak selectivity for potassium over sodium ions. Contributes to the native pacemaker currents in heart (If) and in neurons (Ih). May mediate responses to sour stimuli. Activated by cAMP, and at 10-100 times higher concentrations, also by cGMP. cAMP binding causes a conformation change that leads to the assembly of an active tetramer and channel opening. Compared to other family members, cAMP has less stimulatory effect on HCN1 because part of the molecules already contain bound cAMP and form homotetramers when cAMP levels are low. Homotetramer. Heterotetramer with HCN2. The potassium channel is composed of a homo- or heterotetrameric complex of pore-forming subunits. Interacts with KCNE2. Interacts with the SH3 domain of CSK (PubMed:9405696). O88704; O88704: Hcn1; NbExp=2; IntAct=EBI-8766347, EBI-8766347; Cell membrane ulti-pass membrane protein Predominantly expressed in brain (PubMed:9405696). Highly expressed in apical dendrites of pyramidal neurons in the cortex, in the layer corresponding to the stratum lacunosum-moleculare in the hippocampus and in axons of basket cells in the cerebellum (at protein level) (PubMed:9405696, PubMed:26269648). Expressed in a subset of elongated cells in taste buds (PubMed:11675786). The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. N-glycosylated. Inhibited by extracellular cesium ions. Belongs to the potassium channel HCN family. Sequence=AK014722; Type=Frameshift; Evidence=; nucleotide binding regulation of membrane depolarization ion channel activity intracellular cAMP activated cation channel activity voltage-gated ion channel activity voltage-gated sodium channel activity voltage-gated potassium channel activity potassium channel activity sodium channel activity protein binding phosphatidylinositol-4,5-bisphosphate binding phosphatidylinositol-3,4,5-trisphosphate binding cytoplasm plasma membrane integral component of plasma membrane ion transport potassium ion transport sodium ion transport protein C-terminus binding cell surface membrane integral component of membrane basolateral plasma membrane voltage-gated cation channel activity axon dendrite cAMP binding dendrite membrane regulation of ion transmembrane transport sodium ion transmembrane transport somatodendritic compartment regulation of membrane potential identical protein binding neuronal cell body dendritic shaft axon terminus macromolecular complex binding apical protein localization synapse negative regulation of action potential retinal cone cell development protein homotetramerization response to calcium ion transmembrane transport cellular response to cAMP potassium ion transmembrane transport apical dendrite HCN channel complex regulation of membrane hyperpolarization positive regulation of cation channel activity uc007ryo.1 uc007ryo.2 uc007ryo.3 uc007ryo.4 
ENSMUST00000007005.14 Acat2 ENSMUST00000007005.14 acetyl-Coenzyme A acetyltransferase 2 (from RefSeq NM_009338.3) ENSMUST00000007005.1 ENSMUST00000007005.10 ENSMUST00000007005.11 ENSMUST00000007005.12 ENSMUST00000007005.13 ENSMUST00000007005.2 ENSMUST00000007005.3 ENSMUST00000007005.4 ENSMUST00000007005.5 ENSMUST00000007005.6 ENSMUST00000007005.7 ENSMUST00000007005.8 ENSMUST00000007005.9 NM_009338 Q3TJY7 Q62292 Q8CAY6 Q96EB7 Q99K88 Q9CYV2 THIC_MOUSE uc008alq.1 uc008alq.2 uc008alq.3 Involved in the biosynthetic pathway of cholesterol. Reaction=2 acetyl-CoA = acetoacetyl-CoA + CoA; Xref=Rhea:RHEA:21036, ChEBI:CHEBI:57286, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=2.3.1.9; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:21038; Evidence=; Lipid metabolism; fatty acid metabolism. Homotetramer. Cytoplasm, cytosol Belongs to the thiolase-like superfamily. Thiolase family. Sequence=BAB28763.1; Type=Erroneous initiation; Evidence=; catalytic activity acetyl-CoA C-acetyltransferase activity acetyl-CoA C-acyltransferase activity nucleus nucleolus cytoplasm mitochondrion cytosol fatty acid metabolic process fatty acid beta-oxidation transferase activity transferase activity, transferring acyl groups transferase activity, transferring acyl groups other than amino-acyl groups positive regulation of intestinal cholesterol absorption uc008alq.1 uc008alq.2 uc008alq.3 
ENSMUST00000007012.6 Sod2 ENSMUST00000007012.6 superoxide dismutase 2, mitochondrial (from RefSeq NM_013671.3) ENSMUST00000007012.1 ENSMUST00000007012.2 ENSMUST00000007012.3 ENSMUST00000007012.4 ENSMUST00000007012.5 NM_013671 Q4FJX9 Q4FJX9_MOUSE Sod2 uc008alv.1 uc008alv.2 uc008alv.3 Destroys radicals which are normally produced within the cells and which are toxic to biological systems. Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems. Reaction=2 H(+) + 2 superoxide = H2O2 + O2; Xref=Rhea:RHEA:20696, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:18421; EC=1.15.1.1; Evidence= Homotetramer. Mitochondrion matrix Belongs to the iron/manganese superoxide dismutase family. response to hypoxia DNA binding superoxide dismutase activity cytoplasm mitochondrion superoxide metabolic process response to oxidative stress aging response to radiation response to cold response to manganese ion response to zinc ion response to selenium ion response to activity oxidoreductase activity removal of superoxide radicals oxygen binding enzyme binding manganese ion binding response to nutrient levels response to lipopolysaccharide response to L-ascorbic acid response to silicon dioxide response to isolation stress response to immobilization stress response to drug response to hydrogen peroxide mitochondrial nucleoid hydrogen peroxide metabolic process identical protein binding negative regulation of apoptotic process response to cadmium ion metal ion binding hydrogen peroxide biosynthetic process protein homooligomerization response to electrical stimulus oxidation-reduction process response to magnetism cellular response to ethanol uc008alv.1 uc008alv.2 uc008alv.3 
ENSMUST00000007046.9 Tmco6 ENSMUST00000007046.9 transmembrane and coiled-coil domains 6 (from RefSeq NM_028036.3) ENSMUST00000007046.1 ENSMUST00000007046.2 ENSMUST00000007046.3 ENSMUST00000007046.4 ENSMUST00000007046.5 ENSMUST00000007046.6 ENSMUST00000007046.7 ENSMUST00000007046.8 NM_028036 Q8BQX5 Q99JV8 Q9CWP3 TMCO6_MOUSE uc008eoi.1 uc008eoi.2 uc008eoi.3 uc008eoi.4 Membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BQX5-1; Sequence=Displayed; Name=2; IsoId=Q8BQX5-2; Sequence=VSP_059937, VSP_059938; [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Sequence=BAB26978.1; Type=Frameshift; Evidence=; Sequence=BAC32636.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence=; cellular_component cell protein import into nucleus biological_process membrane integral component of membrane nuclear import signal receptor activity uc008eoi.1 uc008eoi.2 uc008eoi.3 uc008eoi.4 
ENSMUST00000007130.15 Ctnnb1 ENSMUST00000007130.15 catenin beta 1, transcript variant 1 (from RefSeq NM_007614.3) CTNB1_MOUSE Catnb Ctnnb1 ENSMUST00000007130.1 ENSMUST00000007130.10 ENSMUST00000007130.11 ENSMUST00000007130.12 ENSMUST00000007130.13 ENSMUST00000007130.14 ENSMUST00000007130.2 ENSMUST00000007130.3 ENSMUST00000007130.4 ENSMUST00000007130.5 ENSMUST00000007130.6 ENSMUST00000007130.7 ENSMUST00000007130.8 ENSMUST00000007130.9 NM_007614 Q02248 Q922W1 Q9D335 uc009scu.1 uc009scu.2 uc009scu.3 This gene encodes not only an important cytoplasmic component of the classical cadherin adhesion complex that forms the adherens junction in epithelia and mediates cell-cell adhesion in many other tissues but also a key signaling molecule in the canonical Wnt signaling pathway that controls cell growth and differentiation during both normal development and tumorigenesis. The gene product contains a central armadillo-repeat containing domain through which it binds the cytoplasmic tail of classical cadherins; meanwhile, it also binds alpha-catenin, which further links the cadherin complex to the actin cytoskeleton either directly or indirectly. Beta-catenin is therefore necessary for the adhesive function of classical cadherins. Another key function of this protein is to mediate the canonical Wnt signaling pathway and regulate gene transcription. Without Wnt signal, cytoplasmic beta-catenin that is not associated with the cadherin complex is quickly phosphorylated at the N-terminal Ser/Thr residues by the so called degradation complex containing axin, adenomatous polyposis coli (APC), casein kinase I, and GSK3B, then ubiquitylated by beta-TrCP, and degraded by the proteasome. However, in the presence of Wnt signal, the degradation complex is disrupted and the stabilized cytoplasmic beta-catenin translocates into the nucleus, where it binds various transcription factors and, together with these factors, regulates the transcription of many downstream genes. Mutations of this gene have been linked with various types of tumors. Alternatively spliced variants have been found for this gene. [provided by RefSeq, Sep 2009]. Key downstream component of the canonical Wnt signaling pathway (PubMed:15132997). In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. In the presence of Wnt ligand, CTNNB1 is not ubiquitinated and accumulates in the nucleus, where it acts as a coactivator for transcription factors of the TCF/LEF family, leading to activate Wnt responsive genes (By similarity). Involved in the regulation of cell adhesion, as component of an E- cadherin:catenin adhesion complex (PubMed:16325582, PubMed:18093941). Acts as a negative regulator of centrosome cohesion. Involved in the CDK2/PTPN6/CTNNB1/CEACAM1 pathway of insulin internalization. Blocks anoikis of malignant kidney and intestinal epithelial cells and promotes their anchorage-independent growth by down-regulating DAPK2. Disrupts PML function and PML-NB formation by inhibiting RANBP2- mediated sumoylation of PML (By similarity). Promotes neurogenesis by maintaining sympathetic neuroblasts within the cell cycle (PubMed:21325504). Involved in chondrocyte differentiation via interaction with SOX9: SOX9-binding competes with the binding sites of TCF/LEF within CTNNB1, thereby inhibiting the Wnt signaling (PubMed:15132997). Acts as a positive regulator of odontoblast differentiation during mesenchymal tooth germ formation, via promoting the transcription of differentiation factors such as LEF1, BMP2 and BMP4 (PubMed:29148101). Activity is repressed in a MSX1-mediated manner at the bell stage of mesenchymal tooth germ formation which prevents premature differentiation of odontoblasts (PubMed:29148101). Two separate complex-associated pools are found in the cytoplasm. The majority is present as component of an E-cadherin/ catenin adhesion complex composed of at least E-cadherin/CDH1 and beta- catenin/CTNNB1, and possibly alpha-catenin/CTNNA1; the complex is located to adherens junctions. The stable association of CTNNA1 is controversial as CTNNA1 was shown not to bind to F-actin when assembled in the complex. Alternatively, the CTNNA1-containing complex may be linked to F-actin by other proteins such as LIMA1. Binds NHERF1. Interacts with PTPRU (via the cytoplasmic juxtamembrane domain) and with EMD. Interacts with SESTD1 and TRPC4. Interacts with CAV1. Interacts with PTPRJ. Interacts with PKT7. Interacts with FAT1 (via the cytoplasmic domain). Interacts with CDK2, NDRG2 and NANOS1. Interacts with NEK2 and CDK5. Interacts with CARM1, CXADR, PCDH11Y and PTK6. Interacts with RAPGEF2. Interacts with SOX7; this interaction may lead to proteasomal degradation of active CTNNB1 and thus inhibition of Wnt/beta-catenin-stimulated transcription. Identified in a complex with HINT1 and MITF. Interacts with FHIT. Interacts with FERMT2. Identified in a complex with TCF4 and FERMT2. Another cytoplasmic pool is part of a large complex containing AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome. Wnt-dependent activation of DVL antagonizes the action of GSK3B. When GSK3B activity is inhibited the complex dissociates, CTNNB1 is dephosphorylated and is no longer targeted for destruction. The stabilized protein translocates to the nucleus, where it binds TCF/LEF- 1 family members, BCL9, BCL9L and possibly also RUVBL1 and CHD8. Interacts with TAX1BP3 (via the PDZ domain); this interaction inhibits the transcriptional activity of CTNNB1. Interacts with AJAP1, BAIAP1 and CTNNA3. Interacts with TRPV4; the TRPV4 and CTNNB1 complex can interact with CDH1. Interacts with VCL. The CTNNB1 and TCF4 complex interacts with PML. Interacts with XIRP1. Binds CTNNBIP and EP300. CTNNB1 forms a ternary complex with LEF1 and EP300 that is disrupted by CTNNBIP1 binding. Interacts directly with AXIN1; the interaction is regulated by CDK2 phosphorylation of AXIN1. Interacts with GLIS2. Interacts with SCRIB. Interacts with TNIK and TCF7L2. Interacts with SLC30A9. Interacts with RORA. May interact with P-cadherin/CDH3. Interacts with RNF220 (By similarity). Interacts with CTNND2 (By similarity). Interacts (via the C-terminal region) with CBY1 (By similarity). The complex composed, at least, of APC, CTNNB1 and GSK3B interacts with JPT1; the interaction requires the inactive form of GSK3B (phosphorylated at 'Ser-9') (By similarity). Interacts with DLG5 (PubMed:25232112). Interacts with FAM53B; promoting translocation to the nucleus. Interacts with TMEM170B (By similarity). Interacts with AHI1 (By similarity). Interacts with GID8 (By similarity). Component of an cadherin:catenin adhesion complex composed of at least of CDH26, beta-catenin/CTNNB1, alpha-catenin/CTNNA1 and p120 catenin/CTNND1 (By similarity). Forms a complex comprising APPL1, RUVBL2, APPL2, HDAC1 and HDAC2 (By similarity). Interacts with IRF2BPL; mediates the ubiquitination and degradation of CTNNB1 (By similarity). Interacts with AMFR (PubMed:31073040). Interacts with LMBR1L (PubMed:31073040). Interacts with SOX30; prevents interaction of CTNNB1 with TCF7L2/TCF4 and leads to inhibition of Wnt signaling (By similarity). Interacts with SOX9; inhibiting CTNNB1 activity by competing with the binding sites of TCF/LEF within CTNNB1, thereby inhibiting the Wnt signaling (PubMed:15132997). Interacts with SPN/CD43 cytoplasmic tail (By similarity). Interacts (when phosphorylated at Tyr-333) with isoform M2 of PKM (PKM2); promoting transcription activation (By similarity). Interacts with PKP2 (via HEAD domain) (By similarity). Interacts with CDH1 (By similarity). Interacts (when unphosphorylated) with FLYWCH1, perhaps preventing interaction of CTNNB1 with TCF4, and thereby regulating transcription activation; phosphorylation of CTNNB1 may inhibit the interaction (By similarity). Interacts (via the central armadillo domains) with probable transcriptional regulator ADNP (via N- terminal region); interaction is direct and stabilizes CTNNB1 by modulating its phosphorylation by glycogen synthase kinase-3 beta GSK3B (PubMed:32533114). Q02248; P09803: Cdh1; NbExp=17; IntAct=EBI-397872, EBI-984420; Q02248; P45481: Crebbp; NbExp=3; IntAct=EBI-397872, EBI-296306; Q02248; P26231: Ctnna1; NbExp=2; IntAct=EBI-397872, EBI-647895; Q02248; Q9WV60: Gsk3b; NbExp=2; IntAct=EBI-397872, EBI-400793; Q02248; P42859: Htt; NbExp=3; IntAct=EBI-397872, EBI-5327353; Q02248; P27782: Lef1; NbExp=6; IntAct=EBI-397872, EBI-984464; Q02248; O54826: Mllt10; NbExp=2; IntAct=EBI-397872, EBI-8459555; Q02248; P97458: Prop1; NbExp=2; IntAct=EBI-397872, EBI-937831; Q02248; Q04207: Rela; NbExp=5; IntAct=EBI-397872, EBI-644400; Q02248; P40645: Sox6; NbExp=2; IntAct=EBI-397872, EBI-3505685; Q02248; Q9DBG9: Tax1bp3; NbExp=6; IntAct=EBI-397872, EBI-1161647; Q02248; P25054: APC; Xeno; NbExp=8; IntAct=EBI-397872, EBI-727707; Q02248; O15169: AXIN1; Xeno; NbExp=5; IntAct=EBI-397872, EBI-710484; Q02248; Q9NSA3: CTNNBIP1; Xeno; NbExp=7; IntAct=EBI-397872, EBI-747082; Q02248; P49841: GSK3B; Xeno; NbExp=3; IntAct=EBI-397872, EBI-373586; Q02248; F1MSG6: RAPGEF2; Xeno; NbExp=2; IntAct=EBI-397872, EBI-6927068; Q02248; O15047: SETD1A; Xeno; NbExp=2; IntAct=EBI-397872, EBI-540779; Q02248; P33148; Xeno; NbExp=4; IntAct=EBI-397872, EBI-15603953; Cytoplasm Nucleus Cytoplasm, cytoskeleton. Cell junction, adherens junction Cell junction Cell membrane Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle pole Synapse Cytoplasm, cytoskeleton, cilium basal body Note=Colocalized with RAPGEF2 and TJP1 at cell-cell contacts (By similarity). Cytoplasmic when it is un-stable (highly phosphorylated) or bound to CDH1. Translocates to the nucleus when it is stabilized (low level of phosphorylation). Interaction with GLIS2 and MUC1 promotes nuclear translocation. Interaction with EMD inhibits nuclear localization. The majority of beta-catenin is localized to the cell membrane. In interphase, colocalizes with CROCC between CEP250 puncta at the proximal end of centrioles, and this localization is dependent on CROCC and CEP250. In mitosis, when NEK2 activity increases, it localizes to centrosomes at spindle poles independent of CROCC. Colocalizes with CDK5 in the cell- cell contacts and plasma membrane of undifferentiated and differentiated neuroblastoma cells. Interaction with FAM53B promotes translocation to the nucleus (By similarity). Expressed in cerebellar granule neurons (at protein level) (PubMed:21623382). Expressed in the intestinal epithelium (at protein level) (PubMed:22510880). Expressed in bell stage dental mesenchymal cells at 17.5 dpc (at protein level). Phosphorylation at Ser-552 by AMPK promotes stabilization of the protein, enhancing TCF/LEF-mediated transcription (PubMed:20361929). Phosphorylation by GSK3B requires prior phosphorylation of Ser-45 by another kinase (By similarity). Phosphorylation proceeds then from Thr- 41 to Ser-37 and Ser-33 (By similarity). Phosphorylated by NEK2 (By similarity). EGF stimulates tyrosine phosphorylation (By similarity). Phosphorylated on Ser-33 and Ser-37 by HIPK2 and GSK3B, this phosphorylation triggers proteasomal degradation (PubMed:20307497). Phosphorylation on Ser-191 and Ser-246 by CDK5 (By similarity). Phosphorylation by CDK2 regulates insulin internalization (By similarity). Phosphorylation by PTK6 at Tyr-64, Tyr-142, Tyr-331 and/or Tyr-333 with the predominant site at Tyr-64 is not essential for inhibition of transcriptional activity (By similarity). Phosphorylation by SRC at Tyr-333 promotes interaction with isoform M2 of PKM (PKM2); promoting transcription activation (By similarity). Ubiquitinated by the SCF(BTRC) E3 ligase complex when phosphorylated by GSK3B, leading to its degradation (By similarity). Ubiquitinated by a E3 ubiquitin ligase complex containing UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X, leading to its subsequent proteasomal degradation (By similarity). Ubiquitinated and degraded following interaction with SOX9 (Probable). S-nitrosylation at Cys-619 within adherens junctions promotes VEGF-induced, NO-dependent endothelial cell permeability by disrupting interaction with E-cadherin, thus mediating disassembly adherens junctions. O-glycosylation at Ser-23 decreases nuclear localization and transcriptional activity, and increases localization to the plasma membrane and interaction with E-cadherin CDH1. Deacetylated at Lys-49 by SIRT1. Sympathetic ganglia-specific conditional knockout mice lead to a reduction in sympathetic ganglia size and in progenitor cell number, but does not alter sympathetic innervation of peripheral target organs. Belongs to the beta-catenin family. Sequence=AAH06739.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; negative regulation of transcription from RNA polymerase II promoter protein polyubiquitination embryonic axis specification cell morphogenesis involved in differentiation spindle pole RNA polymerase II transcription factor binding RNA polymerase II activating transcription factor binding skeletal system development branching involved in blood vessel morphogenesis vasculogenesis branching involved in ureteric bud morphogenesis in utero embryonic development gastrulation with mouth forming second endoderm formation cell fate specification cell fate determination endodermal cell fate commitment neuron migration kidney development neural plate development tissue homeostasis vasculature development positive regulation of neuroblast proliferation positive regulation of mesenchymal cell proliferation lens morphogenesis in camera-type eye ventricular compact myocardium morphogenesis regulation of secondary heart field cardioblast proliferation metanephros morphogenesis negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis chromatin binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus transcription factor complex nuclear euchromatin cytoplasm centrosome microtubule organizing center cytosol cytoskeleton plasma membrane cell-cell junction adherens junction cell-cell adherens junction fascia adherens bicellular tight junction cell cortex regulation of transcription from RNA polymerase II promoter cell adhesion cell-matrix adhesion chemical synaptic transmission ectoderm development nervous system development glial cell fate determination heart development protein C-terminus binding transcription factor binding cell proliferation positive regulation of cell proliferation negative regulation of cell proliferation anterior/posterior axis specification dorsal/ventral axis specification dorsal/ventral pattern formation proximal/distal pattern formation cellular process regulation of gene expression positive regulation of gene expression negative regulation of gene expression positive regulation of epithelial to mesenchymal transition positive regulation of heparan sulfate proteoglycan biosynthetic process Schwann cell proliferation intercalated disc membrane Wnt signaling pathway basolateral plasma membrane lateral plasma membrane morphogenesis of embryonic epithelium catenin complex negative regulation of angiogenesis flotillin complex stem cell population maintenance enzyme binding kinase binding protein kinase binding protein phosphatase binding layer formation in cerebral cortex central nervous system vasculogenesis hair cycle process Z disc lamellipodium cell junction hemopoiesis cell differentiation neuron differentiation T cell differentiation osteoclast differentiation lung development estrogen receptor binding male genitalia development regulation of epithelial cell differentiation positive regulation of epithelial cell differentiation beta-catenin destruction complex forebrain development midbrain development hindbrain development regulation of centriole-centriole cohesion pancreas development hair follicle morphogenesis cell projection membrane microvillus membrane regulation of myelination nuclear membrane positive regulation of telomere maintenance via telomerase negative regulation of chondrocyte differentiation response to estradiol macromolecular complex protein-DNA complex T cell differentiation in thymus negative regulation of protein sumoylation response to cytokine adherens junction organization adherens junction assembly protein localization to cell surface cellular protein localization Scrib-APC-beta-catenin complex embryonic heart tube development genitalia morphogenesis embryonic forelimb morphogenesis embryonic hindlimb morphogenesis ionotropic glutamate receptor binding nuclear hormone receptor binding embryonic skeletal limb joint morphogenesis regulation of cell proliferation regulation of T cell proliferation odontogenesis of dentin-containing tooth response to drug embryonic digit morphogenesis presynaptic membrane regulation of apoptotic process cell projection positive regulation of apoptotic process negative regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling proteasome-mediated ubiquitin-dependent protein catabolic process dendritic shaft apical junction complex positive regulation of MAPK cascade positive regulation of neuron apoptotic process skin development response to estrogen positive regulation of molecular function ion channel binding canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition nuclear transcription factor complex macromolecular complex binding apical part of cell synapse postsynaptic membrane alpha-catenin binding cadherin binding bone resorption regulation of cell differentiation negative regulation of cell differentiation positive regulation of endothelial cell differentiation regulation of osteoblast differentiation positive regulation of osteoblast differentiation regulation of osteoclast differentiation negative regulation of osteoclast differentiation positive regulation of fibroblast growth factor receptor signaling pathway negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter negative regulation of mitotic cell cycle, embryonic SMAD binding chromatin-mediated maintenance of transcription cell maturation perinuclear region of cytoplasm synaptic vesicle transport animal organ development thymus development oocyte development embryonic foregut morphogenesis positive regulation of skeletal muscle tissue development regulation of smooth muscle cell proliferation negative regulation of oligodendrocyte differentiation negative regulation of neurogenesis synapse organization nitric-oxide synthase binding positive regulation of sequence-specific DNA binding transcription factor activity smooth muscle cell differentiation protein heterooligomerization regulation of histone H3-K4 methylation regulation of anagen positive regulation of telomerase activity cardiac muscle cell proliferation oviduct development canonical Wnt signaling pathway limb development trachea morphogenesis trachea formation epithelial tube branching involved in lung morphogenesis lung cell differentiation lung-associated mesenchyme development mesenchyme development lung induction epithelial cell differentiation involved in prostate gland development positive regulation of epithelial cell proliferation involved in prostate gland development hair follicle placode formation mesenchymal cell proliferation involved in lung development cardiac vascular smooth muscle cell differentiation coronary artery morphogenesis epicardium-derived cardiac vascular smooth muscle cell differentiation positive regulation of branching involved in lung morphogenesis endothelial tube morphogenesis fungiform papilla formation canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation sympathetic ganglion development cranial ganglion development beta-catenin-TCF7L2 complex I-SMAD binding repressing transcription factor binding regulation of centromeric sister chromatid cohesion cellular response to mechanical stimulus cellular response to growth factor stimulus cellular response to indole-3-methanol cell periphery renal vesicle formation renal inner medulla development renal outer medulla development nephron tubule formation mesenchyme morphogenesis regulation of nephron tubule epithelial cell differentiation regulation of calcium ion import synaptic vesicle clustering disordered domain specific binding cell-cell adhesion presynaptic active zone cytoplasmic component postsynaptic density, intracellular component negative regulation of neuron death negative regulation of oxidative stress-induced neuron death regulation of histone demethylase activity (H3-K4 specific) regulation of chromatin-mediated maintenance of transcription positive regulation of chromatin-mediated maintenance of transcription regulation of euchromatin binding regulation of core promoter binding positive regulation of core promoter binding cranial skeletal system development midbrain dopaminergic neuron differentiation canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation neuron projection extension histone methyltransferase binding cellular response to insulin-like growth factor stimulus embryonic brain development dorsal root ganglion development beta-catenin-TCF complex Wnt signalosome regulation of protein localization to cell surface positive regulation of determination of dorsal identity positive regulation of DNA-templated transcription, initiation positive regulation of neural precursor cell proliferation negative regulation of apoptotic signaling pathway neuron projection uc009scu.1 uc009scu.2 uc009scu.3 
ENSMUST00000007139.6 Eif1b ENSMUST00000007139.6 eukaryotic translation initiation factor 1B (from RefSeq NM_026892.3) EIF1B_MOUSE ENSMUST00000007139.1 ENSMUST00000007139.2 ENSMUST00000007139.3 ENSMUST00000007139.4 ENSMUST00000007139.5 NM_026892 Q9CXU9 uc009scp.1 uc009scp.2 uc009scp.3 uc009scp.4 Probably involved in translation. Belongs to the SUI1 family. RNA binding translation initiation factor activity translation translational initiation biological_process eukaryotic 43S preinitiation complex ribosomal small subunit binding uc009scp.1 uc009scp.2 uc009scp.3 uc009scp.4 
ENSMUST00000007156.5 Klk1b11 ENSMUST00000007156.5 kallikrein 1-related peptidase b11 (from RefSeq NM_010640.2) ENSMUST00000007156.1 ENSMUST00000007156.2 ENSMUST00000007156.3 ENSMUST00000007156.4 K1B11_MOUSE Klk-11 Klk11 NM_010640 P15946 uc009goe.1 uc009goe.2 uc009goe.3 This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: BC013660.1, BG865922.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849377, SAMN00849383 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Glandular kallikreins cleave Met-Lys and Arg-Ser bonds in kininogen to release Lys-bradykinin. Reaction=Preferential cleavage of Arg-|-Xaa bonds in small molecule substrates. Highly selective action to release kallidin (lysyl- bradykinin) from kininogen involves hydrolysis of Met-|-Xaa or Leu-|- Xaa.; EC=3.4.21.35; Belongs to the peptidase S1 family. Kallikrein subfamily. regulation of systemic arterial blood pressure endopeptidase activity serine-type endopeptidase activity extracellular space proteolysis peptidase activity serine-type peptidase activity hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides secretory granule zymogen activation macromolecular complex uc009goe.1 uc009goe.2 uc009goe.3 
ENSMUST00000007161.8 Klk4 ENSMUST00000007161.8 kallikrein related-peptidase 4 (prostase, enamel matrix, prostate) (from RefSeq NM_019928.2) EMSP1 ENSMUST00000007161.1 ENSMUST00000007161.2 ENSMUST00000007161.3 ENSMUST00000007161.4 ENSMUST00000007161.5 ENSMUST00000007161.6 ENSMUST00000007161.7 KLK-L1 KLK4_MOUSE Klk4 NM_019928 Prss17 Q9JIS2 Q9Z0M1 uc009gny.1 uc009gny.2 uc009gny.3 Has a major role in enamel formation. Required during the maturation stage of tooth development for clearance of enamel proteins and normal structural patterning of the crystalline matrix. Secreted In developing teeth, expressed in ameloblasts during transition and maturation stages (PubMed:10863090, PubMed:10690663, PubMed:19578120). Expressed weakly in odontoblasts (PubMed:10863090). Not detected in odontoblasts (PubMed:19578120). Detected in the epithelium surrounding the erupted first molar (PubMed:10690663). N-glycosylated. The N-glycan structures are of complex diantennary or triantennary type, which may be further modified with up to 2 sialic acid residues. Viable and fertile, when reared on a soft diet. Tooth morphology is grossly normal but the enamel surface is fragile and rapidly abraded. Although formation of the enamel layer is initially normal, the crystallites fail to thicken and interlock. The enamel proteins enamelin and amelogenin are not cleared and persist in the matrix during the maturation stage. Belongs to the peptidase S1 family. Kallikrein subfamily. serine-type endopeptidase activity extracellular region proteolysis peptidase activity serine-type peptidase activity hydrolase activity extracellular matrix disassembly secretory granule protein catabolic process biomineral tissue development metal ion binding amelogenesis uc009gny.1 uc009gny.2 uc009gny.3 
ENSMUST00000007171.13 Chrd ENSMUST00000007171.13 chordin, transcript variant 6 (from RefSeq NR_184392.1) CHRD_MOUSE ENSMUST00000007171.1 ENSMUST00000007171.10 ENSMUST00000007171.11 ENSMUST00000007171.12 ENSMUST00000007171.2 ENSMUST00000007171.3 ENSMUST00000007171.4 ENSMUST00000007171.5 ENSMUST00000007171.6 ENSMUST00000007171.7 ENSMUST00000007171.8 ENSMUST00000007171.9 NR_184392 Q9Z0E2 uc007yre.1 uc007yre.2 uc007yre.3 Dorsalizing factor. Key developmental protein that dorsalizes early vertebrate embryonic tissues by binding to ventralizing TGF-beta family bone morphogenetic proteins (BMPs) and sequestering them in latent complexes. Interacts with TWSG1 and/or BMP4. Secreted Detected at high levels in 7 dpc mouse embryos; its level decreases at later developmental stages and in adult tissues. Cleaved by tolloid proteases; cleavage participates in dorsoventral patterning during early development. Belongs to the chordin family. skeletal system development osteoblast differentiation gastrulation with mouth forming second mesoderm formation positive regulation of mesenchymal cell proliferation extracellular region extracellular space multicellular organism development pattern specification process central nervous system development heparin binding dorsal/ventral pattern formation BMP signaling pathway involved in spinal cord dorsal/ventral patterning negative regulation of cell migration negative regulation of BMP signaling pathway forebrain development syndecan binding negative regulation of osteoblast differentiation positive regulation of cell adhesion uc007yre.1 uc007yre.2 uc007yre.3 
ENSMUST00000007207.15 Clcn2 ENSMUST00000007207.15 chloride channel, voltage-sensitive 2, transcript variant 1 (from RefSeq NM_009900.3) CLCN2_MOUSE Clc2 ENSMUST00000007207.1 ENSMUST00000007207.10 ENSMUST00000007207.11 ENSMUST00000007207.12 ENSMUST00000007207.13 ENSMUST00000007207.14 ENSMUST00000007207.2 ENSMUST00000007207.3 ENSMUST00000007207.4 ENSMUST00000007207.5 ENSMUST00000007207.6 ENSMUST00000007207.7 ENSMUST00000007207.8 ENSMUST00000007207.9 NM_009900 Q0VBC2 Q9R0A1 Q9WUJ9 uc012ada.1 uc012ada.2 uc012ada.3 Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial transport (By similarity). Involved in the regulation of aldosterone production. The opening of CLCN2 channels at hyperpolarized membrane potentials in the glomerulosa causes cell membrane depolarization, activation of voltage-gated Ca2+ channels and increased expression of aldosterone synthase, the rate-limiting enzyme for aldosterone biosynthesis (By similarity). Cell membrane ; Multi-pass membrane protein. Expressed in the adrenal gland and brain. Phosphorylated. Activated by dephosphorylation. Hyperpolarization-activated chloride currents are absent in glomerulosa cells of knockout mice. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels (By similarity). Belongs to the chloride channel (TC 2.A.49) family. ClC- 2/CLCN2 subfamily. voltage-gated ion channel activity voltage-gated chloride channel activity chloride channel activity plasma membrane integral component of plasma membrane ion transport chloride transport membrane integral component of membrane dendrite regulation of aldosterone biosynthetic process ion transmembrane transport chloride channel complex regulation of ion transmembrane transport perikaryon transmembrane transport retina development in camera-type eye cell differentiation involved in salivary gland development chloride transmembrane transport uc012ada.1 uc012ada.2 uc012ada.3 
ENSMUST00000007212.9 Psmd2 ENSMUST00000007212.9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 2, transcript variant 1 (from RefSeq NM_134101.2) ENSMUST00000007212.1 ENSMUST00000007212.2 ENSMUST00000007212.3 ENSMUST00000007212.4 ENSMUST00000007212.5 ENSMUST00000007212.6 ENSMUST00000007212.7 ENSMUST00000007212.8 NM_134101 PSMD2_MOUSE Q8VDM4 uc007yqq.1 uc007yqq.2 uc007yqq.3 Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Binds to the intracellular domain of tumor necrosis factor type 1 receptor. The binding domain of TRAP1 and TRAP2 resides outside the death domain of TNFR1. Component of the 19S proteasome regulatory particle complex. The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP). The regulatory particle is made of a lid composed of 9 subunits, a base containing 6 ATPases and few additional components including PSMD2 (By similarity). Interacts with RPGRIP1L (PubMed:26150391). Interacts with CRY1 in a KDM8-dependent manner (PubMed:30500822). Interacts (via C-terminus) with phosphatase UBLCP1 (via ubiquitin-like domain); the interaction recruits UBLCP1 to the 19S regulatory particle where it dephosphorylates 19S subunit PSMC2/RPT1 which impairs PSMC2 ATPase activity and disrupts 26S proteasome assembly (By similarity). Belongs to the proteasome subunit S2 family. proteasome complex protein binding nucleus proteasome regulatory particle proteasome regulatory particle, base subcomplex proteasome accessory complex enzyme regulator activity proteasome storage granule regulation of protein catabolic process proteasome-mediated ubiquitin-dependent protein catabolic process regulation of catalytic activity endopeptidase activity uc007yqq.1 uc007yqq.2 uc007yqq.3 
ENSMUST00000007236.5 Syngr3 ENSMUST00000007236.5 synaptogyrin 3 (from RefSeq NM_011522.3) ENSMUST00000007236.1 ENSMUST00000007236.2 ENSMUST00000007236.3 ENSMUST00000007236.4 NM_011522 Q8R191 Q9WVG8 SNG3_MOUSE Syngr3 uc008axq.1 uc008axq.2 uc008axq.3 May play a role in regulated exocytosis (PubMed:10383386). May indirectly regulate the activity of the plasma membrane dopamine transporter SLC6A3 and thereby regulate dopamine transport back from the synaptic cleft into the presynaptic terminal (PubMed:19357284). Interacts (via N-terminus) with SLC6A3 (via N-terminus) (PubMed:19357284). May interact with VMAT2 (PubMed:19357284). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ulti-pass membrane protein Synapse Note=Found at the neuromuscular synapses. Specifically expressed in brain. Found in the brain across the dorsal and ventral corpus striatum as well as in the cortex. Expression increases during brain development from P2 to adult (at protein level). Belongs to the synaptogyrin family. neurotransmitter uptake protein binding synaptic vesicle membrane integral component of membrane cell junction synaptic vesicle membrane cytoplasmic vesicle neuromuscular junction positive regulation of transporter activity SH2 domain binding regulated exocytosis synapse protein N-terminus binding uc008axq.1 uc008axq.2 uc008axq.3 
ENSMUST00000007245.8 Vwa7 ENSMUST00000007245.8 von Willebrand factor A domain containing 7, transcript variant 1 (from RefSeq NM_138582.1) D17h6s56e-3 ENSMUST00000007245.1 ENSMUST00000007245.2 ENSMUST00000007245.3 ENSMUST00000007245.4 ENSMUST00000007245.5 ENSMUST00000007245.6 ENSMUST00000007245.7 G7c NM_138582 Q9JHA8 Q9Z1Q8 VWA7_MOUSE uc008cfa.1 uc008cfa.2 Secreted Expressed at low level in many tissues. Recombinatorial hotspot within the class III region. Sequence=AAC84152.1; Type=Erroneous gene model prediction; Evidence=; extracellular region uc008cfa.1 uc008cfa.2 
ENSMUST00000007248.5 Hspa1l ENSMUST00000007248.5 heat shock protein 1-like (from RefSeq NM_013558.2) ENSMUST00000007248.1 ENSMUST00000007248.2 ENSMUST00000007248.3 ENSMUST00000007248.4 HS71L_MOUSE Hsc70t NM_013558 O88686 P16627 Q61693 uc008ceq.1 uc008ceq.2 uc008ceq.3 Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, activation of proteolysis of misfolded proteins and the formation and dissociation of protein complexes. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The affinity for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. It goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release. Positive regulator of PRKN translocation to damaged mitochondria. Interacts with PRKN. Expressed in spermatids. Specifically expressed in postmeiotic phases of spermatogenesis. The N-terminal nucleotide binding domain (NBD) (also known as the ATPase domain) is responsible for binding and hydrolyzing ATP. The C-terminal substrate-binding domain (SBD) (also known as peptide- binding domain) binds to the client/substrate proteins. The two domains are allosterically coupled so that, when ATP is bound to the NBD, the SBD binds relatively weakly to clients. When ADP is bound in the NBD, a conformational change enhances the affinity of the SBD for client proteins. Belongs to the heat shock protein 70 family. nucleotide binding zona pellucida receptor complex ATP binding nucleus cytoplasm cytosol plasma membrane response to unfolded protein multicellular organism development spermatogenesis binding of sperm to zona pellucida COP9 signalosome vesicle-mediated transport ATPase activity cell differentiation heat shock protein binding ubiquitin protein ligase binding macromolecular complex cellular response to heat cellular response to unfolded protein protein refolding ATPase activity, coupled protein binding involved in protein folding cell body unfolded protein binding chaperone mediated protein folding requiring cofactor misfolded protein binding positive regulation of protein targeting to mitochondrion uc008ceq.1 uc008ceq.2 uc008ceq.3 
ENSMUST00000007249.15 Slc44a4 ENSMUST00000007249.15 solute carrier family 44, member 4 (from RefSeq NM_023557.3) CTL4_MOUSE Ctl4 ENSMUST00000007249.1 ENSMUST00000007249.10 ENSMUST00000007249.11 ENSMUST00000007249.12 ENSMUST00000007249.13 ENSMUST00000007249.14 ENSMUST00000007249.2 ENSMUST00000007249.3 ENSMUST00000007249.4 ENSMUST00000007249.5 ENSMUST00000007249.6 ENSMUST00000007249.7 ENSMUST00000007249.8 ENSMUST00000007249.9 NM_023557 Ng22 Q7TQ02 Q91VA1 Q9CVA7 Slc44a4 TPPT1 uc008ceh.1 uc008ceh.2 uc008ceh.3 uc008ceh.4 Choline transporter that plays a role in the choline- acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury (By similarity). Also described as a thiamine pyrophosphate transporter in colon, may mediate the absorption of microbiota-generated thiamine pyrophosphate and contribute to host thiamine (vitamin B1) homeostasis (PubMed:24379411). Reaction=choline(out) + n H(+)(in) = choline(in) + n H(+)(out); Xref=Rhea:RHEA:75463, ChEBI:CHEBI:15354, ChEBI:CHEBI:15378; Evidence=; Reaction=thiamine diphosphate(out) = thiamine diphosphate(in); Xref=Rhea:RHEA:75471, ChEBI:CHEBI:58937; Evidence=; Membrane ; Multi- pass membrane protein Apical cell membrane Expressed in colon and cecum. N-glycosylated; N-glycosylation of Asn-67 and Asn-391 is required for a proper thiamine pyrophosphate uptake. Belongs to the CTL (choline transporter-like) family. plasma membrane acetylcholine biosynthetic process choline transmembrane transporter activity choline transport membrane integral component of membrane apical plasma membrane positive regulation of cell growth thiamine pyrophosphate transport otolith formation neuromast hair cell development acetylcholine secretion thiamine pyrophosphate transporter activity uc008ceh.1 uc008ceh.2 uc008ceh.3 uc008ceh.4 
ENSMUST00000007251.14 Abhd16a ENSMUST00000007251.14 abhydrolase domain containing 16A, transcript variant 11 (from RefSeq NR_184561.1) ABHGA_MOUSE Abhd16a Bat5 ENSMUST00000007251.1 ENSMUST00000007251.10 ENSMUST00000007251.11 ENSMUST00000007251.12 ENSMUST00000007251.13 ENSMUST00000007251.2 ENSMUST00000007251.3 ENSMUST00000007251.4 ENSMUST00000007251.5 ENSMUST00000007251.6 ENSMUST00000007251.7 ENSMUST00000007251.8 ENSMUST00000007251.9 NR_184561 Ng26 Q9Z1Q2 uc008cfq.1 uc008cfq.2 Phosphatidylserine (PS) lipase that mediates the hydrolysis of phosphatidylserine to generate lysophosphatidylserine (LPS) (PubMed:25580854). LPS constitutes a class of signaling lipids that regulates immunological and neurological processes (PubMed:25580854). Has no activity towards diacylglycerol, triacylglycerol or lysophosphatidylserine lipase (By similarity). Also has monoacylglycerol lipase activity, with preference for 1-(9Z,12Z- octadecadienoyl)-glycerol (1-LG) and 2-glyceryl-15-deoxy-Delta(12,14)- prostaglandin J2 (15d-PGJ(2)-G) (PubMed:25290914). Reaction=1-heptadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero- 3-phosphoserine + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + 1- heptadecanoyl-sn-glycero-3-phosphoserine + H(+); Xref=Rhea:RHEA:44500, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32395, ChEBI:CHEBI:84461, ChEBI:CHEBI:84462; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:44501; Evidence=; Reaction=1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-L- serine + H2O = (9Z)-octadecenoate + 1-hexadecanoyl-sn-glycero-3- phospho-L-serine + H(+); Xref=Rhea:RHEA:41752, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:75020, ChEBI:CHEBI:75029; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41753; Evidence=; Reaction=1-octadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3- phosphoserine + H2O = (9Z,12Z)-octadecadienoate + 1-octadecanoyl-sn- glycero-3-phosphoserine + H(+); Xref=Rhea:RHEA:44516, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30245, ChEBI:CHEBI:84466, ChEBI:CHEBI:84467; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:44517; Evidence=; Reaction=1-heptadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero- 3-phosphocholine + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + 1- heptadecanoyl-sn-glycero-3-phosphocholine + H(+); Xref=Rhea:RHEA:44520, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32395, ChEBI:CHEBI:74340, ChEBI:CHEBI:84470; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:44521; Evidence=; Reaction=1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3- phosphoglycerol + H2O = (9Z)-octadecenoate + 1-hexadecanoyl-sn- glycero-3-phosphoglycerol + H(+); Xref=Rhea:RHEA:44524, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:84472, ChEBI:CHEBI:84475; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:44525; Evidence=; Reaction=1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1D- myo-inositol) + H2O = (9Z)-octadecenoate + 1-hexadecanoyl-sn-glycero- 3-phospho-(1D-myo-inositol) + H(+); Xref=Rhea:RHEA:44528, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:72833, ChEBI:CHEBI:72837; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:44529; Evidence=; Reaction=1-heptadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero- 3-phosphoethanolamine + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + 1- heptadecanoyl-sn-glycero-3-phosphoethanolamine + H(+); Xref=Rhea:RHEA:44540, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32395, ChEBI:CHEBI:84489, ChEBI:CHEBI:84490; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:44541; Evidence=; Reaction=1-hexadecanoyl-2-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1'- sn-glycerol) + H2O = (9Z)-octadecenoate + 1-hexadecanoyl-sn-glycero- 3-phospho-(1'-sn-glycerol) + H(+); Xref=Rhea:RHEA:40919, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:72841, ChEBI:CHEBI:75158; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40920; Evidence=; Reaction=Hydrolyzes glycerol monoesters of long-chain fatty acids.; EC=3.1.1.23; Evidence=; Reaction=1-tetradecanoylglycerol + H2O = glycerol + H(+) + tetradecanoate; Xref=Rhea:RHEA:44312, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30807, ChEBI:CHEBI:75562; Evidence=; Reaction=2-hexadecanoylglycerol + H2O = glycerol + H(+) + hexadecanoate; Xref=Rhea:RHEA:39963, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:75455; Evidence=; Reaction=1-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + glycerol + H(+); Xref=Rhea:RHEA:38487, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30823, ChEBI:CHEBI:75342; Evidence=; Reaction=2-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + glycerol + H(+); Xref=Rhea:RHEA:38491, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30823, ChEBI:CHEBI:73990; Evidence=; Reaction=2-(9Z,12Z-octadecadienoyl)-glycerol + H2O = (9Z,12Z)- octadecadienoate + glycerol + H(+); Xref=Rhea:RHEA:44732, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30245, ChEBI:CHEBI:75457; Evidence=; Reaction=1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + glycerol + H(+); Xref=Rhea:RHEA:44728, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:32395, ChEBI:CHEBI:75612; Evidence=; Reaction=2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + glycerol + H(+); Xref=Rhea:RHEA:26132, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:32395, ChEBI:CHEBI:52392; Evidence=; Reaction=H2O + prostaglandin D2-1-glycerol ester = glycerol + H(+) + prostaglandin D2; Xref=Rhea:RHEA:45412, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:57406, ChEBI:CHEBI:85232; Evidence=; Reaction=11-oxo-5Z,9,12E,14E-prostatetraenoate + H2O = 15-deoxy- Delta(12,14)-prostaglandin J2 + glycerol + H(+); Xref=Rhea:RHEA:45416, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:85236, ChEBI:CHEBI:85238; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45417; Evidence=; Reaction=1-(9Z,12Z-octadecadienoyl)-glycerol + H2O = (9Z,12Z)- octadecadienoate + glycerol + H(+); Xref=Rhea:RHEA:48428, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30245, ChEBI:CHEBI:75568; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48429; Evidence=; Specifically inhibited by alpha-alkylidene-beta- lactone KC01 ((Z)-6-(2-Oxo-4-tridecyloxetan-3-ylidene)hexanamide). Kinetic parameters: KM=40 uM for 1-octadecanoyl-2-(9Z,12Z-octadecadienoyl)-sn-glycero-3- phosphoserine ; Vmax=35 nmol/min/mg enzyme with 1-octadecanoyl-2-(9Z,12Z- octadecadienoyl)-sn-glycero-3-phosphoserine as substrate ; Membrane ; Multi- pass membrane protein Mice were born at a much lower frequency than expected and are smaller than wild-type mice throughout development and life (PubMed:25580854). Despite their smaller size, mice appear normal (PubMed:25580854). Metabolomic characterization of brain tissue show decreased lysophosphatidylserines (PubMed:25580854). Belongs to the AB hydrolase superfamily. ABHD16 family. phospholipase activity lipid metabolic process phosphatidylserine catabolic process membrane integral component of membrane hydrolase activity acylglycerol lipase activity monoacylglycerol catabolic process prostaglandin catabolic process uc008cfq.1 uc008cfq.2 
ENSMUST00000007253.6 Neu1 ENSMUST00000007253.6 neuraminidase 1 (from RefSeq NM_010893.3) ENSMUST00000007253.1 ENSMUST00000007253.2 ENSMUST00000007253.3 ENSMUST00000007253.4 ENSMUST00000007253.5 NM_010893 Neu1 Q3UL64 Q3UL64_MOUSE uc008cei.1 uc008cei.2 uc008cei.3 uc008cei.4 Catalyzes the removal of sialic acid (N-acetylneuraminic acid) moieties from glycoproteins and glycolipids. To be active, it is strictly dependent on its presence in the multienzyme complex. Appears to have a preference for alpha 2-3 and alpha 2-6 sialyl linkage. Reaction=Hydrolysis of alpha-(2->3)-, alpha-(2->6)-, alpha- (2->8)- glycosidic linkages of terminal sialic acid residues in oligosaccharides, glycoproteins, glycolipids, colominic acid and synthetic substrates.; EC=3.2.1.18; Evidence=; Interacts with cathepsin A (protective protein), beta- galactosidase and N-acetylgalactosamine-6-sulfate sulfatase in a multienzyme complex. Cytoplasmic vesicle Lysosome lumen Lysosome membrane ; Peripheral membrane protein ; Lumenal side Belongs to the glycosyl hydrolase 33 family. exo-alpha-sialidase activity lysosome oligosaccharide catabolic process alpha-sialidase activity cell junction intracellular membrane-bounded organelle uc008cei.1 uc008cei.2 uc008cei.3 uc008cei.4 
ENSMUST00000007255.13 Ddah2 ENSMUST00000007255.13 DDAH family member 2, ADMA independent, transcript variant 1 (from RefSeq NM_001190449.1) DDAH2_MOUSE ENSMUST00000007255.1 ENSMUST00000007255.10 ENSMUST00000007255.11 ENSMUST00000007255.12 ENSMUST00000007255.2 ENSMUST00000007255.3 ENSMUST00000007255.4 ENSMUST00000007255.5 ENSMUST00000007255.6 ENSMUST00000007255.7 ENSMUST00000007255.8 ENSMUST00000007255.9 NM_001190449 Q99LD8 uc008cfi.1 uc008cfi.2 uc008cfi.3 uc008cfi.4 Putative hydrolase with unknown substrate (Probable). Does not hydrolyze N(G),N(G)-dimethyl-L-arginine (ADMA) which acts as an inhibitor of NOS (PubMed:37296100, PubMed:21493890). In endothelial cells, induces expression of vascular endothelial growth factor (VEGF) via phosphorylation of the transcription factor SP1 by PKA in a process that is independent of NO and NO synthase (PubMed:16574895). Similarly, enhances pancreatic insulin secretion through SP1-mediated transcriptional up-regulation of secretagogin/SCGN, an insulin vesicle docking protein (PubMed:23430976). Upon viral infection, relocates to mitochondria where it promotes mitochondrial fission through activation of DNM1L leading to the inhibition of innate response activation mediated by MAVS (PubMed:33850055). Cytoplasm Mitochondrion Note=Translocates from cytosol to mitochondrion upon IL1B stimulation in chondrocytes. Mitochondrion Note=(Microbial infection) Translocates to the mitochondrion upon Sendai viral infection. Expressed at high levels in kidney and lung (at protein level) (PubMed:21493890, PubMed:37296100). Expressed in islets of Langerhans (PubMed:23430976). Phosphorylated by TBK1. Phosphorylation inhibits the translocation into the mitochondrion upon Sendai viral infection. Mutant tissues do not show any changes in dimethylarginine dimethylaminohydrolase activity compared to the wild- type littermates. Belongs to the DDAH family. Was originally thought to be a dimethylarginine dimethylaminohydrolase (with EC:3.5.3.18) able to hydrolyze N(G),N(G)- dimethyl-L-arginine (ADMA) and N(G)-monomethyl-L-arginine (MMA). However, a recent multicentre study have shown that DDAH2 does not have dimethylarginine dimethylaminohydrolase activity by using different approaches. citrulline metabolic process cytoplasm mitochondrion microtubule organizing center cytosol arginine metabolic process arginine catabolic process dimethylargininase activity amino acid binding hydrolase activity positive regulation of nitric oxide biosynthetic process uc008cfi.1 uc008cfi.2 uc008cfi.3 uc008cfi.4 
ENSMUST00000007257.10 Clic1 ENSMUST00000007257.10 chloride intracellular channel 1 (from RefSeq NM_033444.2) CLIC1_MOUSE ENSMUST00000007257.1 ENSMUST00000007257.2 ENSMUST00000007257.3 ENSMUST00000007257.4 ENSMUST00000007257.5 ENSMUST00000007257.6 ENSMUST00000007257.7 ENSMUST00000007257.8 ENSMUST00000007257.9 NM_033444 Q9Z1Q5 uc008cfg.1 uc008cfg.2 uc008cfg.3 Can insert into membranes and form chloride ion channels. Channel activity depends on the pH. Membrane insertion seems to be redox-regulated and may occur only under oxydizing conditions (By similarity). Monomer. Homodimer (in vitro). Interacts with TRAPPC2. Dimerization requires a conformation change that leads to the exposure of a large hydrophobic surface. In vivo, this may lead to membrane insertion. Interacts with AKAP9 (By similarity). Nucleus Nucleus membrane ; Single-pass membrane protein Cytoplasm Cell membrane ; Single-pass membrane protein Endoplasmic reticulum Note=Mostly in the nucleus including in the nuclear membrane. Small amount in the cytoplasm and the plasma membrane. Exists both as soluble cytoplasmic protein and as membrane protein with probably a single transmembrane domain (By similarity). Might not be present in the nucleus of cardiac cells (By similarity). Members of this family may change from a globular, soluble state to a state where the N-terminal domain is inserted into the membrane and functions as a chloride channel. A conformation change of the N-terminal domain is thought to expose hydrophobic surfaces that trigger membrane insertion (By similarity). Belongs to the chloride channel CLIC family. voltage-gated ion channel activity chloride channel activity nucleus nuclear envelope cytoplasm mitochondrion plasma membrane ion transport chloride transport membrane integral component of membrane nuclear membrane ion transmembrane transport chloride channel complex regulation of ion transmembrane transport positive regulation of osteoblast differentiation perinuclear region of cytoplasm regulation of cell cycle regulation of mitochondrial membrane potential extracellular exosome chloride transmembrane transport uc008cfg.1 uc008cfg.2 uc008cfg.3 
ENSMUST00000007259.4 Ly6g6d ENSMUST00000007259.4 lymphocyte antigen 6 family member G6D, transcript variant 1 (from RefSeq NM_033478.3) ENSMUST00000007259.1 ENSMUST00000007259.2 ENSMUST00000007259.3 LY66D_MOUSE NM_033478 Ng25 Q9Z1Q3 uc008cfn.1 uc008cfn.2 uc008cfn.3 Homodimer. Cell membrane ; Lipid-anchor, GPI-anchor Cell projection, filopodium Expressed in embryonic tissue and adult lung, kidney, brain, liver and spleen. O-glycosylated. plasma membrane external side of plasma membrane membrane filopodium acetylcholine receptor inhibitor activity anchored component of membrane macromolecular complex identical protein binding cell projection protein homooligomerization acetylcholine receptor signaling pathway negative regulation of receptor activity uc008cfn.1 uc008cfn.2 uc008cfn.3 
ENSMUST00000007272.8 Krt14 ENSMUST00000007272.8 keratin 14, transcript variant 1 (from RefSeq NM_016958.2) A2A4G4 ENSMUST00000007272.1 ENSMUST00000007272.2 ENSMUST00000007272.3 ENSMUST00000007272.4 ENSMUST00000007272.5 ENSMUST00000007272.6 ENSMUST00000007272.7 K1C14_MOUSE Krt1-14 NM_016958 Q61781 Q91VQ4 Q99LE0 uc007lkp.1 uc007lkp.2 uc007lkp.3 This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. The nonhelical tail domain is involved in promoting KRT5- KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro. Heterotetramer of two type I and two type II keratins (PubMed:22705788). Forms a disulfide-linked heterodimer (via 2B domains) with KRT5 (via 2B domains) (PubMed:22705788, PubMed:24940650). Forms a heterodimer with KRT1; the interaction is more abundant in the absence of KRT5 (PubMed:11408584). Interacts with PLEC isoform 1C, when in a heterodimer with KRT5 (PubMed:24940650). Interacts with TRADD and with keratin filaments (PubMed:16702408). Associates with other type I keratins (By similarity). Interacts with EPPK1 (PubMed:18285451). Interacts with KLHL24 (By similarity). Interacts with PKP1 (via N- terminus) and PKP2 (By similarity). Cytoplasm Nucleus Note=Expressed in both as a filamentous pattern. Expressed in the corneal epithelium (at protein level) (PubMed:26758872). Expressed in the basal layer of the epidermis and the outer root sheath of hair follicles (at protein level) (PubMed:11408584). Expressed in the epithelial basal layer in the tail epidermis (PubMed:2433272). Expressed in the parabasal cell row, basal cell layer, and suprabasal epithelial layer of the tongue (PubMed:2433272). Expressed in the epithelial cells of the tongue and palate at 17 dpc (PubMed:2433272). Expressed in ameloblasts at the periphery and at the incisal region of mandibular molars at P3 (PubMed:12657653). Expressed at the Tomes' processes of ameloblasts at the incisal region at P5 (PubMed:12657653). Expression at the incisal region decreased at P7 and P9 (PubMed:12657653). A disulfide bond is formed between rather than within filaments and promotes the formation of a keratin filament cage around the nucleus. Ubiquitinated by the BCR(KLHL24) E3 ubiquitin ligase complex. Increase in CXCL16 abundance in the epidermis at 2 days of age. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). Belongs to the intermediate filament family. Sequence=AAH03325.1; Type=Erroneous initiation; Evidence=; structural molecule activity protein binding nucleus cytoplasm intermediate filament aging response to zinc ion response to ionizing radiation epithelial cell differentiation hair cycle keratin filament intermediate filament bundle assembly basal part of cell cell periphery keratin filament binding uc007lkp.1 uc007lkp.2 uc007lkp.3 
ENSMUST00000007275.3 Krt13 ENSMUST00000007275.3 keratin 13, transcript variant 1 (from RefSeq NM_010662.2) ENSMUST00000007275.1 ENSMUST00000007275.2 K1C13_MOUSE Krt1-13 NM_010662 P08730 Q3V176 Q6PAI1 uc007lkj.1 uc007lkj.2 uc007lkj.3 uc007lkj.4 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. Most of the type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. This type I cytokeratin is paired with keratin 4 and expressed in the suprabasal layers of non-cornified stratified epithelia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. Type 1 keratin (Probable). Maintains postnatal tongue mucosal cell homeostasis and tissue organization in response to mechanical stress, potentially via regulation of the G1/S phase cyclins CCNE1 and CCNE2 (PubMed:32758484). Heterotetramer of two type I and two type II keratins. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P08730-1; Sequence=Displayed; Name=2; IsoId=P08730-2; Sequence=VSP_016378; Expressed in tongue epithelia (at protein level) (PubMed:1695590). Expressed in upper suprabasal layers of the corneal epithelium (at protein level) (PubMed:26758872). Expressed in the oral mucosa, including the palate, dorsal tongue, ventral tongue, and the floor of the mouth at 17.5 dpc (PubMed:32758484). Expressed in basal cells and differentiated keratinocytes at the ventral surface and the oral interpapillary cell column on the dorsal surface of the tongue at birth (PubMed:32758484). Ubiquitously expressed in basal cells and differentiated keratinocytes on the ventral tongue epithelium, however expression was limited to the cells in the interpapillary region and keratinized layer on the dorsal tongue at postnatal day 20 (P20) (PubMed:32758484). Also expressed in the buccal mucosa and esophagus at P20 (PubMed:32758484). O-glycosylated; glycans consist of single N-acetylglucosamine residues. Knockout mice maintain a normal body weight and developmental phenotype (PubMed:32758484). Tongue histological abnormalities are evident at P20 including the loss of two lingual vessel branches at the ventral side of the tongue which appears white and wrinkled, especially on the ventral surface at three weeks of age (PubMed:32758484). Loss of column-like basal cell organization and increase in nuclear atypia and vacuolization in both the basal and suprabasal layers of the tongue (PubMed:32758484). Loss of keratohyalin granules, abnormal presence of cuboidal cells in the suprabasal layers and loss of organization of the outermost keratin layer leading to a foamy appearance (PubMed:32758484). Increase in intracellular gaps, however desmosomes still formed but were found broken and intermediate filaments running from the desmosomes to the cytoplasm were missing or reduced (PubMed:32758484). Cytoplasmic vacuolization is evident in all cell layers and large lipid droplets are found in granular cells in the tongue epithelia (PubMed:32758484). Severe abnormalities in buccal mucosa and esophagus including thickened epithelium, immature suprabasal cells, loss of keratohyalin granules and a disorganized keratin layer at P20 (PubMed:32758484). Disrupted proliferation and differentiation in tongue epithelial cells at P20, as indicated by disordered expression of the transcription factor Tp63/P63, the basal progenitor cell marker Krt5, and the differentiated epithelial cell marker Loricrin (PubMed:32758484). Increase in proliferating cells in the upper layers of the tongue epithelium at P20 (PubMed:32758484). Normal tongue morphology, structural architecture and epithelial cell proliferation at birth (PubMed:32758484). Differential expression of 125 genes in the tongue at P0, enriched in keratinization, proinflammatory responses, stress-activated protein kinase signaling and threonine/lipid metabolic processes (PubMed:32758484). Differential expression of 2907 genes in the ventral tongue at P20 involved in a range of processes, however primarily in cell cycle regulatory pathways (PubMed:32758484). Increase in the expression of CCNE1 and CCNE2 in response to in vitro mechanical stress of the tongue (PubMed:32758484). There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). Belongs to the intermediate filament family. structural molecule activity protein binding intermediate filament cytoskeleton organization response to radiation tongue morphogenesis keratin filament intermediate filament cytoskeleton extracellular exosome cellular response to retinoic acid uc007lkj.1 uc007lkj.2 uc007lkj.3 uc007lkj.4 
ENSMUST00000007280.9 Krt16 ENSMUST00000007280.9 keratin 16, transcript variant 2 (from RefSeq NM_008470.1) ENSMUST00000007280.1 ENSMUST00000007280.2 ENSMUST00000007280.3 ENSMUST00000007280.4 ENSMUST00000007280.5 ENSMUST00000007280.6 ENSMUST00000007280.7 ENSMUST00000007280.8 K1C16_MOUSE Krt1-16 NM_008470 Q9Z2K1 uc007lkq.1 uc007lkq.2 uc007lkq.3 The protein encoded by this gene is a member of the keratin gene family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The encoded protein is a cytokeratin and acts as an innate immune system effector, promoting the inflammatory response upon breach of the skin barrier. Defects in this gene are a cause of pachyonychia congenita. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. Epidermis-specific type I keratin that plays a key role in skin (PubMed:22336941, PubMed:24218583). Acts as a regulator of innate immunity in response to skin barrier breach: required for some inflammatory checkpoint for the skin barrier maintenance (PubMed:24218583). Heterodimer of a type I and a type II keratin. KRT16 associates with KRT6 isomers (KRT6A or KRT6B) (PubMed:8636216). Interacts with TCHP (By similarity). Interacts with TRADD (PubMed:16702408). Expressed in the epithelia of the tongue, upper and lower palate, footpad, proximal nail fold and nail bed, penile spine, sweat gland ducts, and back epidermis (at protein level) (PubMed:12445204). Expressed in upper suprabasal layers of the corneal epithelium (at protein level) (PubMed:26758872). Expressed in internal stratified epithelia in the esophagus and vagina (at protein level) (PubMed:12445204). Expressed in transitional stratified squamous epithelia in the forestomach, anal canal, and nasal cavity (at protein level) (PubMed:12445204). Expressed in transitional epithelia of the ureter, bladder and urethra (at protein level) (PubMed:12445204). In mature hair follicles, expressed in the companion layer of the outer root sheath during anagen and in the club hair sheath during catagen and telogen (at protein level) (PubMed:12445204). During embryonic development, initially localizes within early hair germs, but rapidly shifts to a subset of cells at the interface of basal and suprabasal cells above and around the hair germ (PubMed:12445204). Expressed in hair follicles and in most cells in the spinous layer at birth (PubMed:11408584). In response to epidermal stress such as wounding. Mice were born alive at approximately Mendelian ratios but increased postnatal mortality is observed. Surviving mice show oral lesions as well as palmoplantar keratoderma-like hyperkeratotic calluses on front and hind paws, which impair the ability to walk. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). Belongs to the intermediate filament family. morphogenesis of an epithelium immune system process structural molecule activity structural constituent of cytoskeleton protein binding cytoskeleton intermediate filament inflammatory response aging keratinocyte differentiation negative regulation of cell migration keratinization hair cycle innate immune response intermediate filament cytoskeleton organization keratinocyte migration establishment of skin barrier uc007lkq.1 uc007lkq.2 uc007lkq.3 
ENSMUST00000007296.12 Pole ENSMUST00000007296.12 polymerase (DNA directed), epsilon (from RefSeq NM_011132.2) DPOE1_MOUSE E9QKW1 ENSMUST00000007296.1 ENSMUST00000007296.10 ENSMUST00000007296.11 ENSMUST00000007296.2 ENSMUST00000007296.3 ENSMUST00000007296.4 ENSMUST00000007296.5 ENSMUST00000007296.6 ENSMUST00000007296.7 ENSMUST00000007296.8 ENSMUST00000007296.9 NM_011132 Pole1 Q9QX50 Q9WVF7 uc008yqm.1 uc008yqm.2 uc008yqm.3 uc008yqm.4 Catalytic component of the DNA polymerase epsilon complex (By similarity). Participates in chromosomal DNA replication. Required during synthesis of the leading DNA strands at the replication fork and binds at/or near replication origins and moves along DNA with the replication fork. Has 3'-5' proofreading exonuclease activity that corrects errors arising during DNA replication (By similarity). It is also involved in DNA synthesis during DNA repair (By similarity). Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1); Xref=Rhea:RHEA:22508, Rhea:RHEA-COMP:17339, Rhea:RHEA-COMP:17340, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:173112; EC=2.7.7.7; Evidence=; Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Evidence=; Note=Binds 1 [4Fe-4S] cluster. ; Component of the DNA polymerase epsilon complex consisting of four subunits: the catalytic subunit POLE and the accessory subunits POLE2, POLE3 and POLE4. Interacts with RAD17 and TOPBP1. Nucleus. The DNA polymerase activity domain resides in the N-terminal half of the protein, while the C-terminus is necessary for maintenance of the complex. The CysA-type zinc finger is required for PCNA-binding. The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes. Belongs to the DNA polymerase type-B family. G1/S transition of mitotic cell cycle nucleotide binding mitotic cell cycle DNA synthesis involved in DNA repair nucleic acid binding DNA binding chromatin binding DNA-directed DNA polymerase activity nucleus nucleoplasm plasma membrane DNA replication leading strand elongation DNA repair base-excision repair, gap-filling nucleotide-excision repair, DNA gap filling cellular response to DNA damage stimulus zinc ion binding single-stranded DNA 3'-5' exodeoxyribonuclease activity epsilon DNA polymerase complex transferase activity nucleotidyltransferase activity DNA replication proofreading metal ion binding embryonic organ development iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding DNA biosynthetic process nucleic acid phosphodiester bond hydrolysis uc008yqm.1 uc008yqm.2 uc008yqm.3 uc008yqm.4 
ENSMUST00000007317.8 Krt19 ENSMUST00000007317.8 keratin 19, transcript variant 1 (from RefSeq NM_008471.3) ENSMUST00000007317.1 ENSMUST00000007317.2 ENSMUST00000007317.3 ENSMUST00000007317.4 ENSMUST00000007317.5 ENSMUST00000007317.6 ENSMUST00000007317.7 K1C19_MOUSE Krt1-19 NM_008471 P19001 uc007lkm.1 uc007lkm.2 uc007lkm.3 uc007lkm.4 uc007lkm.5 uc007lkm.6 The protein encoded by this gene is a member of the keratin family. The keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into cytokeratins and hair keratins. The type I cytokeratins consist of acidic proteins which are arranged in pairs of heterotypic keratin chains. Unlike its related family members, this smallest known acidic cytokeratin is not paired with a basic cytokeratin in epithelial cells. It is specifically expressed in the periderm, the transiently superficial layer that envelopes the developing epidermis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. Involved in the organization of myofibers. Together with KRT8, helps to link the contractile apparatus to dystrophin at the costameres of striated muscle (By similarity). Heterotetramer of two type I and two type II keratins. Interacts with PNN and the actin-binding domain of DMD (By similarity). Expressed throughout embryonic development with highest levels at 8.5 dpc. Expression decreases by 11.5 dpc and increases again by 17.5 dpc. This keratin differs from all other IF proteins in lacking the C-terminal tail domain. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). Belongs to the intermediate filament family. structural molecule activity protein binding intermediate filament plasma membrane Notch signaling pathway structural constituent of muscle dystrophin-associated glycoprotein complex apicolateral plasma membrane Z disc sarcolemma costamere response to estrogen macromolecular complex binding sarcomere organization cell differentiation involved in embryonic placenta development cell periphery terminal web uc007lkm.1 uc007lkm.2 uc007lkm.3 uc007lkm.4 uc007lkm.5 uc007lkm.6 
ENSMUST00000007318.2 Krt31 ENSMUST00000007318.2 keratin 31 (from RefSeq NM_010659.2) A2A5Y0 ENSMUST00000007318.1 Hka1 K1H1_MOUSE Krt1-1 Krtha1 NM_010659 Q61765 uc007lkd.1 uc007lkd.2 There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. structural molecule activity intermediate filament uc007lkd.1 uc007lkd.2 
ENSMUST00000007340.4 Atp12a ENSMUST00000007340.4 ATPase, H+/K+ transporting, nongastric, alpha polypeptide (from RefSeq NM_138652.2) AT12A_MOUSE Atp1al1 ENSMUST00000007340.1 ENSMUST00000007340.2 ENSMUST00000007340.3 NM_138652 Q32MR8 Q8VHY2 Q9Z1W8 uc007ubw.1 uc007ubw.2 uc007ubw.3 uc007ubw.4 The catalytic subunit of a H(+)/K(+) ATPase and/or Na(+)/K(+) ATPase pump which transports K(+) ions in exchange for Na(+) and/or H(+) ions across the apical membrane of epithelial cells. Uses ATP as an energy source to pump K(+) ions into the cell while transporting Na(+) and/or H(+) ions to the extracellular compartment (By similarity). Involved in the maintenance of electrolyte homeostasis through K(+) ion absorption in kidney and colon (PubMed:9449685). In the airway epithelium, may play a primary role in mucus acidification regulating its viscosity and clearance (By similarity). Reaction=ATP + H(+)(in) + H2O + K(+)(out) = ADP + 2 H(+)(out) + K(+)(in) + phosphate; Xref=Rhea:RHEA:22044, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29103, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.19; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22045; Evidence=; Reaction=ATP + H2O + K(+)(out) + Na(+)(in) = ADP + H(+) + K(+)(in) + Na(+)(out) + phosphate; Xref=Rhea:RHEA:18353, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29101, ChEBI:CHEBI:29103, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.13; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:18354; Evidence=; The ATPase pump is composed of a catalytic alpha subunit and an auxiliary non-catalytic beta subunit. The alpha subunit pairs with the beta subunit of gastric H(+)/K(+) ATPase ATP4B or the beta subunit of Na(+)/K(+) ATPases ATP1B1 and ATP1B3; this interaction is required for the formation of a functionally active pump and its targeting at the plasma membrane. Apical cell membrane ; Multi- pass membrane protein Found in skin, kidney and distal colon. Up-regulated in kidney and down-regulated in colon in response to K(+) ion free diet. Mice are born at the expected Mendelian rate. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily. nucleotide binding sodium:potassium-exchanging ATPase activity protein binding ATP binding plasma membrane ion transport potassium ion transport cellular sodium ion homeostasis regulation of pH potassium-transporting ATPase activity hydrogen:potassium-exchanging ATPase activity response to metal ion establishment or maintenance of transmembrane electrochemical gradient response to organic cyclic compound membrane integral component of membrane basolateral plasma membrane apical plasma membrane cation-transporting ATPase activity cellular potassium ion homeostasis sodium ion export from cell metal ion binding potassium ion homeostasis potassium ion import across plasma membrane uc007ubw.1 uc007ubw.2 uc007ubw.3 uc007ubw.4 
ENSMUST00000007444.14 Strada ENSMUST00000007444.14 STE20-related kinase adaptor alpha, transcript variant 1 (from RefSeq NM_001252448.2) ENSMUST00000007444.1 ENSMUST00000007444.10 ENSMUST00000007444.11 ENSMUST00000007444.12 ENSMUST00000007444.13 ENSMUST00000007444.2 ENSMUST00000007444.3 ENSMUST00000007444.4 ENSMUST00000007444.5 ENSMUST00000007444.6 ENSMUST00000007444.7 ENSMUST00000007444.8 ENSMUST00000007444.9 Lyk5 NM_001252448 Q3UUJ4 Q6VEU7 Q9D0G8 STRAA_MOUSE Strad uc007lyg.1 uc007lyg.2 uc007lyg.3 uc007lyg.4 Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation (By similarity). Component of a trimeric complex composed of STK11/LKB1, STRAD (STRADA or STRADB) and CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta): the complex tethers STK11/LKB1 in the cytoplasm and stimulates its catalytic activity. Nucleus Cytoplasm Event=Alternative splicing; Named isoforms=3; Name=1 ; IsoId=Q3UUJ4-1; Sequence=Displayed; Name=2 ; IsoId=Q3UUJ4-2; Sequence=VSP_052217, VSP_052218; Name=3 ; IsoId=Q3UUJ4-3; Sequence=VSP_052217; The protein kinase domain is predicted to be catalytically inactive. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus nucleoplasm cytoplasm cytosol protein phosphorylation protein export from nucleus cell cycle kinase binding signal transduction by protein phosphorylation protein kinase activator activity activation of protein kinase activity macromolecular complex protein serine/threonine kinase activator activity protein heterooligomerization positive regulation of protein serine/threonine kinase activity uc007lyg.1 uc007lyg.2 uc007lyg.3 uc007lyg.4 
ENSMUST00000007449.9 Akr1b7 ENSMUST00000007449.9 aldo-keto reductase family 1, member B7 (from RefSeq NM_009731.2) Akr1b7 ENSMUST00000007449.1 ENSMUST00000007449.2 ENSMUST00000007449.3 ENSMUST00000007449.4 ENSMUST00000007449.5 ENSMUST00000007449.6 ENSMUST00000007449.7 ENSMUST00000007449.8 NM_009731 Q5M9J9 Q5M9J9_MOUSE uc009bhd.1 uc009bhd.2 uc009bhd.3 uc009bhd.4 Belongs to the aldo/keto reductase family. oxidoreductase activity oxidation-reduction process uc009bhd.1 uc009bhd.2 uc009bhd.3 uc009bhd.4 
ENSMUST00000007482.8 Mrpl49 ENSMUST00000007482.8 mitochondrial ribosomal protein L49 (from RefSeq NM_026246.4) ENSMUST00000007482.1 ENSMUST00000007482.2 ENSMUST00000007482.3 ENSMUST00000007482.4 ENSMUST00000007482.5 ENSMUST00000007482.6 ENSMUST00000007482.7 NM_026246 Q3UC21 Q8C5R0 Q8C7P3 Q9CQ40 RM49_MOUSE uc008ggq.1 uc008ggq.2 uc008ggq.3 Component of the mitochondrial ribosome large subunit (39S) which comprises a 16S rRNA and about 50 distinct proteins (By similarity). Interacts with OXA1L (By similarity). Mitochondrion Belongs to the mitochondrion-specific ribosomal protein mL49 family. structural constituent of ribosome mitochondrion mitochondrial ribosome mitochondrial large ribosomal subunit ribosome translation biological_process uc008ggq.1 uc008ggq.2 uc008ggq.3 
ENSMUST00000007559.15 Gatad1 ENSMUST00000007559.15 GATA zinc finger domain containing 1 (from RefSeq NM_026033.2) ENSMUST00000007559.1 ENSMUST00000007559.10 ENSMUST00000007559.11 ENSMUST00000007559.12 ENSMUST00000007559.13 ENSMUST00000007559.14 ENSMUST00000007559.2 ENSMUST00000007559.3 ENSMUST00000007559.4 ENSMUST00000007559.5 ENSMUST00000007559.6 ENSMUST00000007559.7 ENSMUST00000007559.8 ENSMUST00000007559.9 GATD1_MOUSE NM_026033 Odag Q8VCQ2 Q920S3 Q9CSG2 uc008whh.1 uc008whh.2 uc008whh.3 uc008whh.4 Component of some chromatin complex recruited to chromatin sites methylated 'Lys-4' of histone H3 (H3K4me), with a preference for trimethylated form (H3K4me3). Component of a chromatin complex, at least composed of KDM5A, GATAD1 and EMSY. Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q920S3-1; Sequence=Displayed; Name=2; IsoId=Q920S3-2; Sequence=VSP_025823, VSP_025824; Expressed in the eye (lens, ciliary body, retina, sclera and conjunctiva) at postnatal day 2 and 10. Not detected anywhere at postnatal day 14. Expressed in embryo at 13 dpc onwards. Expressed in embryonic heart at all stages of development. Sequence=BAB28550.2; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; nucleus nucleoplasm regulation of transcription, DNA-templated zinc ion binding chromatin assembly sequence-specific DNA binding metal ion binding uc008whh.1 uc008whh.2 uc008whh.3 uc008whh.4 
ENSMUST00000007584.4 Pcdhac1 ENSMUST00000007584.4 protocadherin alpha subfamily C, 1 (from RefSeq NM_001003671.1) ENSMUST00000007584.1 ENSMUST00000007584.2 ENSMUST00000007584.3 NM_001003671 Pcdhac1 Q91Y10 Q91Y10_MOUSE uc008epj.1 uc008epj.2 uc008epj.3 uc008epj.4 uc008epj.5 Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. Cell membrane ; Single-pass type I membrane protein Membrane ; Single-pass type I membrane protein molecular_function calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules membrane integral component of membrane uc008epj.1 uc008epj.2 uc008epj.3 uc008epj.4 uc008epj.5 
ENSMUST00000007601.4 2310003L06Rik ENSMUST00000007601.4 2310003L06Rik (from geneSymbol) 2310003L06Rik AK009122 ENSMUST00000007601.1 ENSMUST00000007601.2 ENSMUST00000007601.3 Q9CV82 Q9CV82_MOUSE uc290wwe.1 uc290wwe.2 molecular_function cellular_component biological_process uc290wwe.1 uc290wwe.2 
ENSMUST00000007708.14 Ppp2r1a ENSMUST00000007708.14 protein phosphatase 2, regulatory subunit A, alpha (from RefSeq NM_016891.3) 2AAA_MOUSE ENSMUST00000007708.1 ENSMUST00000007708.10 ENSMUST00000007708.11 ENSMUST00000007708.12 ENSMUST00000007708.13 ENSMUST00000007708.2 ENSMUST00000007708.3 ENSMUST00000007708.4 ENSMUST00000007708.5 ENSMUST00000007708.6 ENSMUST00000007708.7 ENSMUST00000007708.8 ENSMUST00000007708.9 NM_016891 Q76MZ3 uc008aqi.1 uc008aqi.2 uc008aqi.3 The PR65 subunit of protein phosphatase 2A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit (PubMed:10100624, PubMed:26974206). Upon interaction with GNA12 promotes dephosphorylation of microtubule associated protein TAU/MAPT (By similarity). Required for proper chromosome segregation and for centromeric localization of SGO1 in mitosis (By similarity). Together with RACK1 adapter, mediates dephosphorylation of AKT1 at 'Ser-473', preventing AKT1 activation and AKT-mTOR signaling pathway (PubMed:26974206, PubMed:33505023). Dephosphorylation of AKT1 is essential for regulatory T-cells (Treg) homeostasis and stability (PubMed:33505023). PP2A consists of a common heterodimeric core enzyme, composed of PPP2CA a 36 kDa catalytic subunit (subunit C) and PPP2R1A a 65 kDa constant regulatory subunit (PR65 or subunit A), that associates with a variety of regulatory subunits. Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell signaling molecules. Found in a complex with at least ARL2, PPP2CB, PPP2R1A, PPP2R2A, PPP2R5E and TBCD (By similarity). Interacts with FOXO1; the interaction dephosphorylates FOXO1 on AKT-mediated phosphorylation sites (PubMed:22417654). Interacts with IPO9 (By similarity). Interacts with TP53 and SGO1 (By similarity). Interacts with PLA2G16; this interaction might decrease PP2A activity (By similarity). Interacts with CTTNBP2NL (By similarity). Interacts with GNA12; the interaction promotes protein phosphatase 2A activation causing dephosphorylation of MAPT (By similarity).Interacts with CIP2A; this interaction stabilizes CIP2A (By similarity). Interacts with PABIR1/FAM122A (By similarity). Interacts with ADCY8; antagonizes interaction between ADCY8 and calmodulin (PubMed:16258073). Interacts with CRTC3 (when phosphorylated at 'Ser-391') (PubMed:30611118). Interacts with SPRY2 (By similarity). Q76MZ3; P63330: Ppp2ca; NbExp=3; IntAct=EBI-400413, EBI-397144; Q76MZ3; O56327; Xeno; NbExp=2; IntAct=EBI-400413, EBI-15646000; Cytoplasm Nucleus Chromosome, centromere Lateral cell membrane Cell projection, dendrite Note=Centromeric localization requires the presence of BUB1. Each HEAT repeat appears to consist of two alpha helices joined by a hydrophilic region, the intrarepeat loop. The repeat units may be arranged laterally to form a rod-like structure. Belongs to the phosphatase 2A regulatory subunit A family. protein phosphatase type 2A complex chromosome, centromeric region protein serine/threonine phosphatase activity protein binding nucleus chromosome cytoplasm cytosol plasma membrane chromosome segregation female meiotic division membrane lateral plasma membrane protein phosphatase regulator activity dendrite cell projection regulation of phosphoprotein phosphatase activity synapse protein heterodimerization activity meiotic spindle elongation mitotic sister chromatid separation meiotic sister chromatid cohesion, centromeric macromolecular complex assembly peptidyl-serine dephosphorylation glutamatergic synapse regulation of meiotic cell cycle process involved in oocyte maturation protein antigen binding positive regulation of extrinsic apoptotic signaling pathway in absence of ligand uc008aqi.1 uc008aqi.2 uc008aqi.3 
ENSMUST00000007733.8 Tinf2 ENSMUST00000007733.8 Terf1 (TRF1)-interacting nuclear factor 2, transcript variant 3 (from RefSeq NM_145705.4) ENSMUST00000007733.1 ENSMUST00000007733.2 ENSMUST00000007733.3 ENSMUST00000007733.4 ENSMUST00000007733.5 ENSMUST00000007733.6 ENSMUST00000007733.7 NM_145705 Q8K1K3 Q8K1K3_MOUSE Tinf2 uc007uaf.1 uc007uaf.2 uc007uaf.3 uc007uaf.4 uc007uaf.5 chromosome, telomeric region nuclear telomere cap complex nuclear chromosome, telomeric region perinucleolar chromocenter negative regulation of protein ADP-ribosylation telomere capping nuclear body telomere assembly negative regulation of telomere maintenance via telomerase telomeric DNA binding negative regulation of epithelial cell proliferation telosome protein localization to chromosome, telomeric region regulation of telomere maintenance via telomere lengthening uc007uaf.1 uc007uaf.2 uc007uaf.3 uc007uaf.4 uc007uaf.5 
ENSMUST00000007738.11 Hapln4 ENSMUST00000007738.11 hyaluronan and proteoglycan link protein 4 (from RefSeq NM_177900.4) Bral2 ENSMUST00000007738.1 ENSMUST00000007738.10 ENSMUST00000007738.2 ENSMUST00000007738.3 ENSMUST00000007738.4 ENSMUST00000007738.5 ENSMUST00000007738.6 ENSMUST00000007738.7 ENSMUST00000007738.8 ENSMUST00000007738.9 HPLN4_MOUSE Lpr4 NM_177900 Q05AB1 Q80WM4 Q80XX2 uc009lyr.1 uc009lyr.2 uc009lyr.3 Essential for the proper localization of brevican (BCAN), mainly as a perineuronal nets (PNNs)-type deposition in the brainstem and cerebellum thereby playing a key role in the formation and structural organization of PNNs (PubMed:22121037). Contributes to the formation and transmission of inhibitory GABAergic synapses between Purkinje cells and deep cerebellar nuclei neurons (PubMed:30125937). Secreted, extracellular space, extracellular matrix Expressed predominantly in brain where it is found mainly throughout the midbrain and hindbrain in a perineuronal net pattern. Expression begins at embryonic day 20 and increases thereafter. Expression continues into adulthood. In deep cerebellar nuclei (DCN) neurons of knockout mice, inhibitory synaptic strengths are reduced as compared to those in wild-type mice, whereas the properties of excitatory synapses are unaffected (PubMed:30125937). A reduction in GABAergic pre-synaptic terminals of Purkinje cells are seen in the DCN neurons (PubMed:30125937). Mice show significantly attenuated perineuronal nets formation in the DCN, a marked decrease of brevican (BCAN) in the brainstem and cerebellum and a reduction in synapse number in the DCN neurons (PubMed:22121037). Belongs to the HAPLN family. skeletal system development hyaluronic acid binding extracellular region cell adhesion central nervous system development extracellular matrix uc009lyr.1 uc009lyr.2 uc009lyr.3 
ENSMUST00000007747.10 Dus3l ENSMUST00000007747.10 dihydrouridine synthase 3 like, transcript variant 1 (from RefSeq NM_144858.2) A0A0R4IZY9 A0A0R4IZY9_MOUSE Dus3l ENSMUST00000007747.1 ENSMUST00000007747.2 ENSMUST00000007747.3 ENSMUST00000007747.4 ENSMUST00000007747.5 ENSMUST00000007747.6 ENSMUST00000007747.7 ENSMUST00000007747.8 ENSMUST00000007747.9 NM_144858 uc008ddd.1 uc008ddd.2 uc008ddd.3 uc008ddd.4 Reaction=5,6-dihydrouridine(47) in tRNA + NAD(+) = H(+) + NADH + uridine(47) in tRNA; Xref=Rhea:RHEA:53364, Rhea:RHEA-COMP:13539, Rhea:RHEA-COMP:13540, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:65315, ChEBI:CHEBI:74443; EC=1.3.1.89; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:53366; Evidence=; Reaction=5,6-dihydrouridine(47) in tRNA + NADP(+) = H(+) + NADPH + uridine(47) in tRNA; Xref=Rhea:RHEA:53360, Rhea:RHEA-COMP:13539, Rhea:RHEA-COMP:13540, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:65315, ChEBI:CHEBI:74443; EC=1.3.1.89; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:53362; Evidence=; Reaction=a 5,6-dihydrouridine in mRNA + NAD(+) = a uridine in mRNA + H(+) + NADH; Xref=Rhea:RHEA:69851, Rhea:RHEA-COMP:14658, Rhea:RHEA- COMP:17789, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:65315, ChEBI:CHEBI:74443; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:69853; Evidence=; Reaction=a 5,6-dihydrouridine in mRNA + NADP(+) = a uridine in mRNA + H(+) + NADPH; Xref=Rhea:RHEA:69855, Rhea:RHEA-COMP:14658, Rhea:RHEA- COMP:17789, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:65315, ChEBI:CHEBI:74443; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:69857; Evidence=; Name=FMN; Xref=ChEBI:CHEBI:58210; Evidence= Belongs to the dus family. Dus3 subfamily. tRNA dihydrouridine synthesis catalytic activity tRNA processing oxidoreductase activity tRNA dihydrouridine synthase activity metal ion binding flavin adenine dinucleotide binding oxidation-reduction process uc008ddd.1 uc008ddd.2 uc008ddd.3 uc008ddd.4 
ENSMUST00000007754.13 Gtpbp3 ENSMUST00000007754.13 GTP binding protein 3, transcript variant 1 (from RefSeq NM_032544.4) ENSMUST00000007754.1 ENSMUST00000007754.10 ENSMUST00000007754.11 ENSMUST00000007754.12 ENSMUST00000007754.2 ENSMUST00000007754.3 ENSMUST00000007754.4 ENSMUST00000007754.5 ENSMUST00000007754.6 ENSMUST00000007754.7 ENSMUST00000007754.8 ENSMUST00000007754.9 GTPB3_MOUSE NM_032544 Q58E73 Q923K4 Q99M99 uc009mdn.1 uc009mdn.2 GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs. Mitochondrion Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q923K4-1; Sequence=Displayed; Name=2; IsoId=Q923K4-2; Sequence=VSP_023585, VSP_023586; Ubiquitously expressed. Highly expressed in tissues with high metabolic rates including heart, liver and brain. Weakly expressed in skeletal muscle. Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. TrmE GTPase family. nucleotide binding tRNA wobble uridine modification GTPase activity GTP binding nucleus cytoplasm mitochondrion tRNA modification tRNA processing tRNA methylation embryonic organ development uc009mdn.1 uc009mdn.2 
ENSMUST00000007757.15 Tgfbr1 ENSMUST00000007757.15 transforming growth factor, beta receptor I, transcript variant 1 (from RefSeq NM_009370.4) A2AJN0 ENSMUST00000007757.1 ENSMUST00000007757.10 ENSMUST00000007757.11 ENSMUST00000007757.12 ENSMUST00000007757.13 ENSMUST00000007757.14 ENSMUST00000007757.2 ENSMUST00000007757.3 ENSMUST00000007757.4 ENSMUST00000007757.5 ENSMUST00000007757.6 ENSMUST00000007757.7 ENSMUST00000007757.8 ENSMUST00000007757.9 NM_009370 Q64729 TGFR1_MOUSE uc008sun.1 uc008sun.2 uc008sun.3 uc008sun.4 This gene encodes a member of the transforming growth factor beta (TGF-beta) receptor family of proteins. These proteins comprise one component of the TGF-beta signaling pathway, which transduces extracellular signals into gene expression changes to regulate a wide range of cellular responses, including proliferation, migration, differentiation and apoptosis. Homozygous knockout mice for this gene exhibit impaired angiogenesis and embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]. Transmembrane serine/threonine kinase forming with the TGF- beta type II serine/threonine kinase receptor, TGFBR2, the non- promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and is thus regulating a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and the activation of TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways. For instance, TGFBR1 induces TRAF6 autoubiquitination which in turn results in MAP3K7 ubiquitination and activation to trigger apoptosis. Also regulates epithelial to mesenchymal transition through a SMAD-independent signaling pathway through PARD6A phosphorylation and activation (By similarity). Reaction=ATP + L-threonyl-[receptor-protein] = ADP + H(+) + O-phospho- L-threonyl-[receptor-protein]; Xref=Rhea:RHEA:44880, Rhea:RHEA- COMP:11024, Rhea:RHEA-COMP:11025, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.30; Reaction=ATP + L-seryl-[receptor-protein] = ADP + H(+) + O-phospho-L- seryl-[receptor-protein]; Xref=Rhea:RHEA:18673, Rhea:RHEA-COMP:11022, Rhea:RHEA-COMP:11023, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.30; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Kept in an inactive conformation by FKBP1A preventing receptor activation in absence of ligand. CD109 is another inhibitor of the receptor (By similarity). Homodimer; in the endoplasmic reticulum but also at the cell membrane. Heterohexamer; TGFB1, TGFB2 and TGFB3 homodimeric ligands assemble a functional receptor composed of two TGFBR1 and TGFBR2 heterodimers to form a ligand-receptor heterohexamer. The respective affinity of TGBRB1 and TGFBR2 for the ligands may modulate the kinetics of assembly of the receptor and may explain the different biological activities of TGFB1, TGFB2 and TGFB3. Component of a complex composed of TSC22D1 (via N-terminus), TGFBR1 and TGFBR2; the interaction between TSC22D1 and TGFBR1 is inhibited by SMAD7 and promoted by TGFB1 (By similarity). Interacts with CD109; inhibits TGF-beta receptor activation in keratinocytes. Interacts with RBPMS. Interacts (unphosphorylated) with FKBP1A; prevents TGFBR1 phosphorylation by TGFBR2 and stabilizes it in the inactive conformation. Interacts with SMAD2, SMAD3 and ZFYVE9; ZFYVE9 recruits SMAD2 and SMAD3 to the TGF- beta receptor. Interacts with TRAF6 and MAP3K7; induces MAP3K7 activation by TRAF6. Interacts with PARD6A; involved in TGF-beta induced epithelial to mesenchymal transition. Interacts with NEDD4L (By similarity). Interacts with SMAD7, SMURF1 and SMURF2; SMAD7 recruits NEDD4L, SMURF1 and SMURF2 to the TGF-beta receptor (By similarity). Interacts with USP15 and VPS39. Interacts with SDCBP (via C-terminus) (By similarity). Interacts with CAV1 and this interaction is impaired in the presence of SDCBP (By similarity). Interacts with APPL1; interaction is TGF beta dependent; mediates trafficking of the TGFBR1 from the endosomes to the nucleus via microtubules in a TRAF6-dependent manner (By similarity). Interacts with GPR50; this interaction promotes the constitutive activation of SMAD signaling pathway (By similarity). Q64729; Q9DBG3: Ap2b1; NbExp=2; IntAct=EBI-2899393, EBI-775229; Q64729; P49817: Cav1; NbExp=4; IntAct=EBI-2899393, EBI-1161338; Q64729; P15379: Cd44; NbExp=4; IntAct=EBI-2899393, EBI-7565891; Q64729; P55284: Cdh5; NbExp=2; IntAct=EBI-2899393, EBI-7087433; Q64729; P05533: Ly6a; NbExp=2; IntAct=EBI-2899393, EBI-11600492; Q64729; P98083-2: Shc1; NbExp=7; IntAct=EBI-2899393, EBI-1019301; Q64729; Q62312: Tgfbr2; NbExp=3; IntAct=EBI-2899393, EBI-2899332; Q64729; P63010: AP2B1; Xeno; NbExp=3; IntAct=EBI-2899393, EBI-432924; Q64729; Q8TDM6: DLG5; Xeno; NbExp=3; IntAct=EBI-2899393, EBI-715138; Q64729; P84022: SMAD3; Xeno; NbExp=6; IntAct=EBI-2899393, EBI-347161; Cell membrane ; Single-pass type I membrane protein Cell junction, tight junction Membrane raft Cell surface Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q64729-1; Sequence=Displayed; Name=2; IsoId=Q64729-2; Sequence=VSP_021593; Phosphorylated at basal levels in the absence of ligand. Activated upon phosphorylation by TGFBR2, mainly in the GS domain. Phosphorylation in the GS domain abrogates FKBP1A-binding (By similarity). N-Glycosylated. Ubiquitinated; undergoes ubiquitination catalyzed by several E3 ubiquitin ligases including SMURF1, SMURF2 and NEDD4L2. Results in the proteasomal and/or lysosomal degradation of the receptor thereby negatively regulating its activity. Deubiquitinated by USP15, leading to stabilization of the protein and enhanced TGF-beta signal. Its ubiquitination and proteasome-mediated degradation is negatively regulated by SDCBP (By similarity). [Isoform 2]: May be due to a competing donor splice site. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. nucleotide binding activation of MAPKK activity skeletal system development angiogenesis in utero embryonic development kidney development blastocyst development epithelial to mesenchymal transition negative regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation lens development in camera-type eye ventricular trabecula myocardium morphogenesis ventricular compact myocardium morphogenesis protein kinase activity protein serine/threonine kinase activity transmembrane receptor protein serine/threonine kinase activity transforming growth factor beta-activated receptor activity transforming growth factor beta receptor activity, type I receptor binding type II transforming growth factor beta receptor binding protein binding ATP binding cell nucleus endosome plasma membrane integral component of plasma membrane caveola bicellular tight junction regulation of transcription, DNA-templated protein phosphorylation apoptotic process signal transduction transmembrane receptor protein serine/threonine kinase signaling pathway transforming growth factor beta receptor signaling pathway pattern specification process heart development positive regulation of cell proliferation germ cell migration male gonad development post-embryonic development anterior/posterior pattern specification cell surface regulation of gene expression positive regulation of gene expression regulation of epithelial to mesenchymal transition positive regulation of epithelial to mesenchymal transition positive regulation of pathway-restricted SMAD protein phosphorylation membrane integral component of membrane kinase activity phosphorylation basolateral plasma membrane apical plasma membrane transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation growth factor binding cell junction cell differentiation collagen fibril organization positive regulation of cell growth positive regulation of cell migration regulation of protein ubiquitination ubiquitin protein ligase binding negative regulation of chondrocyte differentiation activin receptor signaling pathway macromolecular complex intracellular signal transduction regulation of growth endothelial cell activation positive regulation of apoptotic process negative regulation of apoptotic process intracellular membrane-bounded organelle receptor complex regulation of protein binding endothelial cell migration response to estrogen macromolecular complex binding membrane raft negative regulation of endothelial cell differentiation positive regulation of transcription, DNA-templated SMAD binding protein autophosphorylation metal ion binding protein heterodimerization activity activin receptor complex activin binding thymus development neuron fate commitment embryonic cranial skeleton morphogenesis skeletal system morphogenesis mesenchymal cell differentiation artery morphogenesis cell motility transforming growth factor beta binding positive regulation of cellular component movement positive regulation of filopodium assembly positive regulation of stress fiber assembly positive regulation of protein kinase B signaling parathyroid gland development palate development pharyngeal system development regulation of cardiac muscle cell proliferation cardiac epithelial to mesenchymal transition pathway-restricted SMAD protein phosphorylation positive regulation of SMAD protein import into nucleus ventricular septum morphogenesis angiogenesis involved in coronary vascular morphogenesis coronary artery morphogenesis I-SMAD binding response to cholesterol cellular response to transforming growth factor beta stimulus negative regulation of pri-miRNA transcription from RNA polymerase II promoter positive regulation of pri-miRNA transcription from RNA polymerase II promoter positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation positive regulation of occluding junction disassembly epicardium morphogenesis positive regulation of apoptotic signaling pathway negative regulation of extrinsic apoptotic signaling pathway proepicardium development uc008sun.1 uc008sun.2 uc008sun.3 uc008sun.4 
ENSMUST00000007797.10 Gabrb2 ENSMUST00000007797.10 gamma-aminobutyric acid type A receptor subunit beta 2, transcript variant 2 (from RefSeq NM_008070.5) A6H6R7 D1LYT3 ENSMUST00000007797.1 ENSMUST00000007797.2 ENSMUST00000007797.3 ENSMUST00000007797.4 ENSMUST00000007797.5 ENSMUST00000007797.6 ENSMUST00000007797.7 ENSMUST00000007797.8 ENSMUST00000007797.9 GBRB2_MOUSE Gabrb-2 NM_008070 P15432 P63137 uc007imi.1 uc007imi.2 uc007imi.3 Ligand-gated chloride channel which is a component of the heteropentameric receptor for GABA, the major inhibitory neurotransmitter in the brain (PubMed:20400944). Plays an important role in the formation of functional inhibitory GABAergic synapses in addition to mediating synaptic inhibition as a GABA-gated ion channel (PubMed:27129275). The gamma2 subunit is necessary but not sufficient for a rapid formation of active synaptic contacts and the synaptogenic effect of this subunit is influenced by the type of alpha and beta subunits present in the receptor pentamer (PubMed:27129275). The alpha1/beta2/gamma2 receptor and the alpha2/beta2/gamma2 receptor exhibit synaptogenic activity (PubMed:27129275). Functions also as histamine receptor and mediates cellular responses to histamine (By similarity). Allosterically activated by benzodiazepines and the anesthetic etomidate (By similarity). Inhibited by the antagonist bicuculline (By similarity). Heteropentamer, formed by a combination of alpha, beta, gamma, delta and rho chains (By similarity). Interacts with UBQLN1 (By similarity). Interacts with KCTD8, KCTD12 and KCTD16; this interaction determines the pharmacology and kinetics of the receptor response, the KCTD proteins markedly accelerating the GABA-B response, although to different extents (PubMed:20400944). May interact with KIF21B (By similarity). Identified in a complex of 720 kDa composed of LHFPL4, NLGN2, GABRA1, GABRB2, GABRG2 and GABRB3 (By similarity). Postsynaptic cell membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein Cytoplasmic vesicle Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Long; IsoId=P63137-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P63137-2; Sequence=VSP_038829; The extracellular domain contributes to synaptic contact formation. Glycosylated. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRB2 sub- subfamily. transmembrane signaling receptor activity GABA-A receptor activity ion channel activity extracellular ligand-gated ion channel activity inhibitory extracellular ligand-gated ion channel activity chloride channel activity protein binding cytosol plasma membrane integral component of plasma membrane ion transport chloride transport signal transduction gamma-aminobutyric acid signaling pathway chemical synaptic transmission sensory perception of sound membrane integral component of membrane GABA receptor activity GABA-gated chloride ion channel activity cell junction cytoplasmic vesicle ion transmembrane transport chloride channel complex regulation of membrane potential neuron projection regulation of neuron apoptotic process negative regulation of neuron apoptotic process synapse postsynaptic membrane neuron development neurological system process synaptic transmission, GABAergic regulation of postsynaptic membrane potential inner ear receptor cell development innervation cellular response to histamine cochlea development GABA-ergic synapse integral component of postsynaptic specialization membrane negative regulation of neuron death chloride transmembrane transport GABA receptor complex GABA-A receptor complex transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential inhibitory synapse assembly uc007imi.1 uc007imi.2 uc007imi.3 
ENSMUST00000007799.13 Cav1 ENSMUST00000007799.13 caveolin 1, caveolae protein, transcript variant 1 (from RefSeq NM_007616.5) CAV1_MOUSE Cav ENSMUST00000007799.1 ENSMUST00000007799.10 ENSMUST00000007799.11 ENSMUST00000007799.12 ENSMUST00000007799.2 ENSMUST00000007799.3 ENSMUST00000007799.4 ENSMUST00000007799.5 ENSMUST00000007799.6 ENSMUST00000007799.7 ENSMUST00000007799.8 ENSMUST00000007799.9 NM_007616 P49817 Q8C1X7 Q8CBP4 Q9QYH3 Q9QYH4 uc009azo.1 uc009azo.2 uc009azo.3 uc009azo.4 May act as a scaffolding protein within caveolar membranes (By similarity). Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae (PubMed:19546242). Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner (By similarity). Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway (PubMed:10816572). Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation (By similarity). Homooligomer. Interacts (via the N-terminus) with DPP4; the interaction is direct. Forms a stable heterooligomeric complex with CAV2 that targets to lipid rafts and drives caveolae formation. Interacts with BMX, BTK, CTNNB1, CDH1, GLIPR2, JUP, NOSTRIN, SNAP25 and STX1A. Interacts with SLC7A9. Interacts with TGFBR1 (By similarity). Interacts with CTNNB1, CDH1 and JUP. Interacts with PACSIN2; this interaction induces membrane tubulation (PubMed:21610094). Interacts with CAVIN3 (via leucine-zipper domain) in a cholesterol-sensitive manner. Interacts with EHD2 in a cholesterol-dependent manner (By similarity). Interacts with CAVIN1 (PubMed:19546242). Forms a ternary complex with UBXN6 and VCP; mediates CAV1 targeting to lysosomes for degradation (By similarity). Interacts with ABCG1; this interaction regulates ABCG1-mediated cholesterol efflux (By similarity). Interacts with NEU3; this interaction enhances NEU3 sialidase activity within caveola. Interacts (via C-terminus) with SPRY1, SPRY2 (via C-terminus), SPRY3, and SPRY4 (PubMed:16877379). P49817; P15208: Insr; NbExp=2; IntAct=EBI-1161338, EBI-6999015; P49817; Q64729: Tgfbr1; NbExp=4; IntAct=EBI-1161338, EBI-2899393; P49817; Q07820: MCL1; Xeno; NbExp=3; IntAct=EBI-1161338, EBI-1003422; P49817; P22307: SCP2; Xeno; NbExp=3; IntAct=EBI-1161338, EBI-1050999; Golgi apparatus membrane ; Peripheral membrane protein Cell membrane ; Peripheral membrane protein Membrane, caveola ; Peripheral membrane protein Membrane raft Golgi apparatus, trans-Golgi network Note=Colocalized with DPP4 in membrane rafts. Potential hairpin-like structure in the membrane. Membrane protein of caveolae (By similarity). Event=Alternative initiation; Named isoforms=2; Name=1; IsoId=P49817-1; Sequence=Displayed; Name=2; IsoId=P49817-2; Sequence=VSP_018693; Adipose tissue, lung, heart, skeletal muscle, stomach, small bowel, kidney, spleen and testis (at protein level). The N-terminus of both isoforms are blocked. Phosphorylated at Tyr-14 by ABL1 in response to oxidative stress. Ubiquitinated. Undergo monoubiquitination and multi- and/or polyubiquitination. Monoubiquitination of N-terminal lysines promotes integration in a ternary complex with UBXN6 and VCP which promotes oligomeric CAV1 targeting to lysosomes for degradation. Ubiquitinated by ZNRF1; leading to degradation and modulation of the TLR4-mediated immune response. Belongs to the caveolin family. negative regulation of transcription from RNA polymerase II promoter Golgi membrane SNARE binding inactivation of MAPK activity angiogenesis vasculogenesis response to hypoxia negative regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation negative regulation of cytokine-mediated signaling pathway regulation of the force of heart contraction acrosomal membrane caveolar macromolecular signaling complex response to ischemia regulation of the force of heart contraction by chemical signal receptor binding protein binding cytoplasm mitochondrion endosome peroxisomal membrane endoplasmic reticulum Golgi apparatus lipid particle cytosol plasma membrane integral component of plasma membrane caveola focal adhesion cilium cell cortex triglyceride metabolic process calcium ion transport cellular calcium ion homeostasis endocytosis regulation of smooth muscle contraction skeletal muscle tissue development lactation protein localization negative regulation of cell proliferation response to mechanical stimulus response to bacterium basal plasma membrane positive regulation of signal transduction negative regulation of signal transduction cell surface positive regulation of calcium ion transport into cytosol posttranscriptional regulation of gene expression positive regulation of gene expression negative regulation of muscle cell apoptotic process positive regulation of peptidase activity membrane integral component of membrane basolateral plasma membrane apical plasma membrane peptidase activator activity receptor-mediated endocytosis of virus by host cell regulation of fatty acid metabolic process enzyme binding kinase binding protein kinase binding syntaxin binding lipid storage cell differentiation regulation of blood coagulation positive regulation of cell migration negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of BMP signaling pathway protein binding, bridging negative regulation of epithelial cell differentiation mammary gland development positive regulation of microtubule polymerization T cell costimulation negative regulation of protein ubiquitination positive regulation of protein ubiquitination cytoplasmic vesicle receptor internalization negative regulation of protein binding positive regulation of protein binding maintenance of protein location in cell response to progesterone macromolecular complex negative regulation of peptidyl-serine phosphorylation positive regulation of peptidyl-serine phosphorylation cholesterol efflux nitric oxide homeostasis receptor serine/threonine kinase binding positive regulation of toll-like receptor 3 signaling pathway wound healing vasoconstriction negative regulation of tyrosine phosphorylation of STAT protein cholesterol homeostasis identical protein binding positive regulation of catalytic activity negative regulation of MAP kinase activity negative regulation of MAPK cascade response to estrogen ion channel binding macromolecular complex binding negative regulation of nitric oxide biosynthetic process membrane raft negative regulation of neuron differentiation positive regulation of endocytosis positive regulation of vasoconstriction negative regulation of JAK-STAT cascade microtubule polymerization protein heterodimerization activity Rac GTPase binding perinuclear region of cytoplasm negative regulation of pinocytosis negative regulation of smooth muscle cell proliferation nitric-oxide synthase binding negative regulation of nitric-oxide synthase activity positive regulation of NF-kappaB transcription factor activity ATPase binding regulation of cytosolic calcium ion concentration response to calcium ion membrane depolarization regulation of peptidase activity calcium ion homeostasis mammary gland involution binding, bridging positive regulation of cell adhesion molecule production negative regulation of necroptotic process negative regulation of protein tyrosine kinase activity inward rectifier potassium channel inhibitor activity negative regulation of ERK1 and ERK2 cascade caveola assembly cellular response to mechanical stimulus cellular response to exogenous dsRNA cellular response to peptide hormone stimulus cellular response to hyperoxia cellular response to transforming growth factor beta stimulus basement membrane organization caveolin-mediated endocytosis regulation of heart rate by cardiac conduction angiotensin-activated signaling pathway involved in heart process negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway cellular senescence apoptotic signaling pathway regulation of membrane repolarization during action potential regulation of ventricular cardiac muscle cell action potential regulation of ruffle assembly negative regulation of peptidyl-tyrosine autophosphorylation negative regulation of potassium ion transmembrane transport regulation of cell communication by electrical coupling involved in cardiac conduction positive regulation of ER-associated ubiquitin-dependent protein catabolic process positive regulation of gap junction assembly negative regulation of inward rectifier potassium channel activity receptor internalization involved in canonical Wnt signaling pathway regulation of entry of bacterium into host cell negative regulation of anoikis positive regulation of extrinsic apoptotic signaling pathway positive regulation of intrinsic apoptotic signaling pathway negative regulation of cation channel activity sarcolemma uc009azo.1 uc009azo.2 uc009azo.3 uc009azo.4 
ENSMUST00000007803.12 Bcl2l1 ENSMUST00000007803.12 BCL2-like 1, transcript variant 3 (from RefSeq NM_009743.6) B2CL1_MOUSE Bcl2l Bclx ENSMUST00000007803.1 ENSMUST00000007803.10 ENSMUST00000007803.11 ENSMUST00000007803.2 ENSMUST00000007803.3 ENSMUST00000007803.4 ENSMUST00000007803.5 ENSMUST00000007803.6 ENSMUST00000007803.7 ENSMUST00000007803.8 ENSMUST00000007803.9 NM_009743 O35844 Q60657 Q60658 Q61338 Q64373 uc008ngm.1 uc008ngm.2 uc008ngm.3 uc008ngm.4 This gene encodes a member of the Bcl-2 family of apoptosis regulators. The encoded protein is localized to the inner and outer mitochondrial membranes and regulates the programmed cell death pathway during development and tissue homeostasis. This protein binds to voltage-dependent anion channels in the outer mitochondrial membrane to facilitate the uptake of calcium ions. Mice embryos lacking this gene survived for two weeks and exhibited cell death of immature hematopoietic cells and neurons. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jan 2014]. Potent inhibitor of cell death. Inhibits activation of caspases. Appears to regulate cell death by blocking the voltage- dependent anion channel (VDAC) by binding to it and preventing the release of the caspase activator, CYC1, from the mitochondrial membrane. Also acts as a regulator of G2 checkpoint and progression to cytokinesis during mitosis. Isoform Bcl-X(L) also regulates presynaptic plasticity, including neurotransmitter release and recovery, number of axonal mitochondria as well as size and number of synaptic vesicle clusters. During synaptic stimulation, increases ATP availability from mitochondria through regulation of mitochondrial membrane ATP synthase F(1)F(0) activity and regulates endocytic vesicle retrieval in hippocampal neurons through association with DMN1L and stimulation of its GTPase activity in synaptic vesicles (By similarity). May attenuate inflammation impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (By similarity). Isoform Bcl-X(S) promotes apoptosis. Homodimer. Interacts with BAD. Interacts with PGAM5. Interacts with HEBP2. Interacts with p53/TP53 and BBC3; interaction with BBC3 disrupts the interaction with p53/TP53. Interacts with ATP5F1A and ATP5F1B; the interactions mediate the association of isoform Bcl-X(L) with the mitochondrial membrane ATP synthase F(1)F(0) ATP synthase (By similarity). Interacts with VDAC1 (By similarity). Interacts with BCL2L11 (via BH3) (PubMed:14499110, PubMed:27013495). Interacts with RNF183 (By similarity). Interacts with GIMAP3/IAN4 and GIMAP5/IAN5 (PubMed:16509771). Interacts with GIMAP5 and HSPA8/HSC70; the interaction between HSPA8 and BCL2L1 is impaired in the absence of GIMAP5 (PubMed:21502331). Interacts with isoform 4 of CLU; this interaction releases and activates BAX and promotes cell death (By similarity). [Isoform Bcl-X(L)]: Forms heterodimers with BAX, BAK or BCL2; heterodimerization with BAX does not seem to be required for anti- apoptotic activity (By similarity). Interacts with isoform 1 of SIVA1; the interaction inhibits the anti-apoptotic activity (By similarity). Interacts with IKZF3 (By similarity). Interacts with RTL10/BOP (By similarity). Interacts with DNM1L and CLTA; DNM1L and BCL2L1 isoform BCL-X(L) may form a complex in synaptic vesicles that also contains clathrin and MFF (By similarity). Interacts (via the loop between motifs BH4 and BH3) with NLRP1 (via LRR repeats), but not with NLRP2, NLRP3, NLRP4, PYCARD, nor MEFV (By similarity). Interacts with BECN1 (By similarity). Q64373; P59637: E; Xeno; NbExp=2; IntAct=EBI-526361, EBI-25487741; Q64373-1; Q61337: Bad; NbExp=2; IntAct=EBI-526380, EBI-400328; Mitochondrion membrane ; Single-pass membrane protein Nucleus membrane ; Single- pass membrane protein ; Cytoplasmic side Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Note=Localizes to the centrosome when phosphorylated at Ser-49. [Isoform Bcl-X(L)]: Mitochondrion inner membrane. Mitochondrion outer membrane. Mitochondrion matrix Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane Cytoplasm, cytosol Note=After neuronal stimulation, translocates from cytosol to synaptic vesicle and mitochondrion membrane in a calmodulin-dependent manner. [Isoform Bcl-X(delta-TM)]: Cytoplasm. Event=Alternative splicing; Named isoforms=4; Name=Bcl-X(L); Synonyms=Bcl-xL; IsoId=Q64373-1; Sequence=Displayed; Name=Bcl-X(S); Synonyms=Bcl-xS; IsoId=Q64373-2; Sequence=VSP_000517; Name=Bcl-X(beta); IsoId=Q64373-3; Sequence=VSP_000518; Name=Bcl-X(delta-TM); IsoId=Q64373-4; Sequence=VSP_000519; Widely expressed, with highest levels in the brain, thymus, bone marrow, and kidney. Bcl-X(L) and Bcl-X(delta-TM) expression is enhanced in B- and T-lymphocytes that have been activated. Bcl-X(beta) is expressed in both embryonal and postnatal tissues, whereas Bcl-X(L) is predominantly found in postnatal tissues. The BH4 motif is required for anti-apoptotic activity. The BH1 and BH2 motifs are required for both heterodimerization with other Bcl- 2 family members and for repression of cell death. The loop between motifs BH4 and BH3 is required for the interaction with NLRP1. Proteolytically cleaved by caspases during apoptosis. The cleaved protein, lacking the BH4 motif, has pro-apoptotic activity. Phosphorylated on Ser-62 by CDK1. This phosphorylation is partial in normal mitotic cells, but complete in G2-arrested cells upon DNA- damage, thus promoting subsequent apoptosis probably by triggering caspases-mediated proteolysis. Phosphorylated by PLK3, leading to regulate the G2 checkpoint and progression to cytokinesis during mitosis. Phosphorylation at Ser-49 appears during the S phase and G2, disappears rapidly in early mitosis during prometaphase, metaphase and early anaphase, and re-appears during telophase and cytokinesis (By similarity). Ubiquitinated by RNF183 during prolonged ER stress, leading to degradation by the proteosome. Belongs to the Bcl-2 family. ovarian follicle development in utero embryonic development release of cytochrome c from mitochondria response to ischemia protein binding nucleus cytoplasm mitochondrion mitochondrial envelope mitochondrial outer membrane mitochondrial inner membrane mitochondrial matrix endoplasmic reticulum centrosome microtubule organizing center cytosol cytoskeleton apoptotic process mitotic cell cycle checkpoint germ cell development spermatogenesis transcription factor binding cell proliferation positive regulation of cell proliferation male gonad development intrinsic apoptotic signaling pathway in response to DNA damage response to radiation fertilization response to virus membrane integral component of membrane suppression by virus of host apoptotic process protein kinase binding cell junction clathrin binding synaptic vesicle membrane cytoplasmic vesicle nuclear membrane mitochondrial membrane regulation of cytokinesis response to cytokine synaptic vesicle recycling via endosome regulation of growth identical protein binding protein homodimerization activity regulation of apoptotic process cysteine-type endopeptidase inhibitor activity involved in apoptotic process positive regulation of apoptotic process negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of neuron apoptotic process macromolecular complex binding synapse response to cycloheximide regulation of mitochondrial membrane permeability protein heterodimerization activity GTPase binding BH domain binding neuron apoptotic process BH3 domain binding regulation of mitochondrial membrane potential cellular process regulating host cell cycle in response to virus mitochondrion morphogenesis cellular response to amino acid stimulus cellular response to alkaloid cellular response to gamma radiation apoptotic process in bone marrow negative regulation of release of cytochrome c from mitochondria Bcl-2 family protein complex extrinsic apoptotic signaling pathway in absence of ligand hepatocyte apoptotic process MDM2/MDM4 family protein binding presynapse negative regulation of execution phase of apoptosis positive regulation of synaptic vesicle endocytosis regulation of long term synaptic depression negative regulation of extrinsic apoptotic signaling pathway via death domain receptors negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway negative regulation of protein localization to plasma membrane positive regulation of synaptic vesicle exocytosis positive regulation of synaptic vesicle clustering negative regulation of anoikis positive regulation of ATP biosynthetic process negative regulation of intrinsic apoptotic signaling pathway clathrin-coated pit uc008ngm.1 uc008ngm.2 uc008ngm.3 uc008ngm.4 
ENSMUST00000007814.10 Khsrp ENSMUST00000007814.10 KH-type splicing regulatory protein (from RefSeq NM_010613.3) E9QKH3 ENSMUST00000007814.1 ENSMUST00000007814.2 ENSMUST00000007814.3 ENSMUST00000007814.4 ENSMUST00000007814.5 ENSMUST00000007814.6 ENSMUST00000007814.7 ENSMUST00000007814.8 ENSMUST00000007814.9 FUBP2_MOUSE Fubp2 NM_010613 Q2VPQ6 Q3U0V1 Q6P2L2 uc008ddr.1 uc008ddr.2 uc008ddr.3 uc008ddr.4 Binds to the dendritic targeting element and may play a role in mRNA trafficking. Part of a ternary complex that binds to the downstream control sequence (DCS) of the pre-mRNA. Mediates exon inclusion in transcripts that are subject to tissue-specific alternative splicing. May interact with single-stranded DNA from the far-upstream element (FUSE). May activate gene expression. Also involved in degradation of inherently unstable mRNAs that contain AU- rich elements (AREs) in their 3'-UTR, possibly by recruiting degradation machinery to ARE-containing mRNAs (By similarity). Part of a ternary complex containing FUBP2, PTBP1, PTBP2 and HNRPH1. Interacts with PARN. Interacts with PQBP1. Nucleus Cytoplasm Note=A small proportion is also found in the cytoplasm of neuronal cell bodies and dendrites. Belongs to the KHSRP family. nucleic acid binding DNA binding RNA binding mRNA binding mRNA 3'-UTR binding nucleus nucleoplasm cytoplasm cytosol regulation of transcription, DNA-templated mRNA processing mRNA catabolic process RNA splicing cytoplasmic stress granule miRNA metabolic process negative regulation of low-density lipoprotein particle clearance dendrite mRNA 3'-UTR AU-rich region binding neuronal cell body regulation of mRNA stability negative regulation of nitric oxide biosynthetic process mRNA transport positive regulation of mRNA catabolic process 3'-UTR-mediated mRNA destabilization cellular response to cytokine stimulus regulation of miRNA metabolic process uc008ddr.1 uc008ddr.2 uc008ddr.3 uc008ddr.4 
ENSMUST00000007865.7 Ccdc124 ENSMUST00000007865.7 coiled-coil domain containing 124 (from RefSeq NM_026964.3) CC124_MOUSE ENSMUST00000007865.1 ENSMUST00000007865.2 ENSMUST00000007865.3 ENSMUST00000007865.4 ENSMUST00000007865.5 ENSMUST00000007865.6 NM_026964 Q8C2T0 Q9D8X2 uc009mby.1 uc009mby.2 uc009mby.3 Ribosome-binding protein involved in ribosome hibernation: associates with translationally inactive ribosomes and stabilizes the nonrotated conformation of the 80S ribosome, thereby promoting ribosome preservation and storage. Also required for proper progression of late cytokinetic stages. Associates with translationally inactive ribosomes in the nonrotated state. Interacts with RASGEF1B. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Midbody Note=Colocalizes with gamma-tubulin at interphase, prophase, metaphase, and anaphase. Relocates from centrosome to midbody at telophase. Belongs to the CCDC124 family. cytoplasm microtubule organizing center cytosol cytoskeleton plasma membrane cell cycle biological_process midbody cell division uc009mby.1 uc009mby.2 uc009mby.3 
ENSMUST00000007949.4 Twist2 ENSMUST00000007949.4 twist basic helix-loop-helix transcription factor 2 (from RefSeq NM_007855.3) A5D6P6 A5D6P6_MOUSE ENSMUST00000007949.1 ENSMUST00000007949.2 ENSMUST00000007949.3 NM_007855 Twist2 uc007cbd.1 uc007cbd.2 uc007cbd.3 uc007cbd.4 nucleus nucleolus cytoplasm positive regulation of cell migration negative regulation of apoptotic process negative regulation of osteoblast differentiation protein dimerization activity uc007cbd.1 uc007cbd.2 uc007cbd.3 uc007cbd.4 
ENSMUST00000007959.14 Rhoa ENSMUST00000007959.14 ras homolog family member A, transcript variant 1 (from RefSeq NM_016802.5) Arha Arha2 ENSMUST00000007959.1 ENSMUST00000007959.10 ENSMUST00000007959.11 ENSMUST00000007959.12 ENSMUST00000007959.13 ENSMUST00000007959.2 ENSMUST00000007959.3 ENSMUST00000007959.4 ENSMUST00000007959.5 ENSMUST00000007959.6 ENSMUST00000007959.7 ENSMUST00000007959.8 ENSMUST00000007959.9 NM_016802 O88336 Q9QUI0 RHOA_MOUSE uc009rpe.1 uc009rpe.2 uc009rpe.3 uc009rpe.4 uc009rpe.5 This gene encodes a member of the Rho family of small GTPases, which cycle between inactive GDP-bound and active GTP-bound states and function as molecular switches in signal transduction cascades. Rho proteins promote reorganization of the actin cytoskeleton and regulate cell shape, attachment, and motility. Overexpression of this gene is associated with tumor cell proliferation and metastasis. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]. Small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state (PubMed:14697203). Mainly associated with cytoskeleton organization, in active state binds to a variety of effector proteins to regulate cellular responses such as cytoskeletal dynamics, cell migration and cell cycle. Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Involved in a microtubule- dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis (By similarity). Plays an essential role in cleavage furrow formation. Required for the apical junction formation of keratinocyte cell-cell adhesion (PubMed:11777936, PubMed:20974804). Essential for the SPATA13-mediated regulation of cell migration and adhesion assembly and disassembly. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity. In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (By similarity). Regulates KCNA2 potassium channel activity by reducing its location at the cell surface in response to CHRM1 activation; promotes KCNA2 endocytosis. Acts as an allosteric activator of guanine nucleotide exchange factor ECT2 by binding in its activated GTP-bound form to the PH domain of ECT2 which stimulates the release of PH inhibition and promotes the binding of substrate RHOA to the ECT2 catalytic center (By similarity). May be an activator of PLCE1 (PubMed:9635436). In neurons, involved in the inhibition of the initial spine growth. Upon activation by CaMKII, modulates dendritic spine structural plasticity by relaying CaMKII transient activation to synapse-specific, long-term signaling (By similarity). Acts as a regulator of platelet alpha-granule release during activation and aggregation of platelets (PubMed:14697203). Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.2; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19670; Evidence=; Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase. Activated by GEFs such as ARHGEF2, ARHGEF3, ARHGEF28 and BCR. Inhibited by GAPs such as ARHGAP30. Inhibited by GDP dissociation inhibitors such as ARHGDIA. Interacts with ARHGEF28 (PubMed:11058585). Interacts (via GTP- bound form) with RIPOR1 (via N-terminus); this interaction links RHOA to STK24 and STK26 kinases. Interacts with RIPOR2 (via active GTP- or inactive GDP-bound forms) isoform 1 and isoform 2; these interactions are direct, block the loading of GTP to RHOA and decrease upon chemokine CCL19 stimulation in primary T lymphocytes. Binds PRKCL1, ROCK1 and ROCK2 (By similarity). Interacts with ARHGEF2, ARHGEF3, NET1 and RTKN (PubMed:9535835, PubMed:8662891). Interacts with PLCE1 and AKAP13 (By similarity). Interacts with DIAPH1 (PubMed:9214622). Interacts (in the constitutively activated, GTP-bound form) with DGKQ. Interacts with RACK1; enhances RHOA activation. Interacts with PKP4; the interaction is detected at the midbody (By similarity). Interacts (GTP-bound form preferentially) with PKN2; the interaction stimulates autophosphorylation and phosphorylation of PKN2 (PubMed:20974804). Interacts with ARHGDIA; this interaction inactivates and stabilizes RHOA. Interacts with ARHGDIB (By similarity). Interacts (GTP-bound form) with KCNA2 (via cytoplasmic N-terminal domain) (PubMed:9635436). Interacts (GTP-bound form) with ECT2; the interaction results in allosteric activation of ECT2 (By similarity). Interacts with RAP1GDS1; the interaction is direct and in a 1:1 stoichiometry (By similarity). Q9QUI0; Q8C6B2: Rtkn; NbExp=3; IntAct=EBI-643583, EBI-1162441; Q9QUI0; Q9BST9: RTKN; Xeno; NbExp=2; IntAct=EBI-643583, EBI-446694; Cell membrane ; Lipid-anchor ; Cytoplasmic side Cytoplasm, cytoskeleton Cleavage furrow Cytoplasm, cell cortex Midbody Cell projection, lamellipodium ll projection, dendrite Nucleus Cytoplasm Note=Localized to cell-cell contacts in calcium-treated keratinocytes (PubMed:11777936). Translocates to the equatorial region before furrow formation in a ECT2-dependent manner. Localizes to the equatorial cell cortex (at the site of the presumptive furrow) in early anaphase in an activated form and in a myosin- and actin-independent manner (By similarity). Up-regulated during keratinocyte differentiation. Ubiquitinated by the BCR(KCTD13) and BCR(TNFAIP1) E3 ubiquitin ligase complexes, leading to its degradation by the proteasome, thereby regulating the actin cytoskeleton and synaptic transmission in neurons. Ubiquitinated at Lys-135 in a FBXL19-mediated manner; leading to proteasomal degradation (By similarity). Phosphorylation by PRKG1 at Ser-188 inactivates RHOA signaling (By similarity). Phosphorylation by SLK at Ser-188 in response to AGTR2 activation (By similarity). Serotonylation of Gln-63 by TGM2 during activation and aggregation of platelets leads to constitutive activation of GTPase activity. Belongs to the small GTPase superfamily. Rho family. nucleotide binding cell morphogenesis response to hypoxia angiotensin-mediated vasoconstriction involved in regulation of systemic arterial blood pressure alpha-beta T cell lineage commitment regulation of systemic arterial blood pressure by endothelin GTPase activity protein binding GTP binding nucleus cytoplasm mitochondrion endosome cytosol cytoskeleton plasma membrane cell cortex regulation of transcription from RNA polymerase II promoter cytoskeleton organization actin filament organization cell cycle cell adhesion cell-matrix adhesion integrin-mediated signaling pathway small GTPase mediated signal transduction Rho protein signal transduction skeletal muscle tissue development regulation of actin polymerization or depolymerization regulation of cell shape response to mechanical stimulus response to glucose negative regulation of cell-substrate adhesion regulation of neuron projection development negative regulation of neuron projection development membrane cell migration hydrolase activity myosin binding GDP binding protein kinase binding protein domain specific binding cerebral cortex cell migration forebrain radial glial cell differentiation lamellipodium actin cytoskeleton organization cell differentiation positive regulation of cell growth regulation of cell migration positive regulation of cell migration axon dendrite midbody androgen receptor signaling pathway positive regulation of actin filament polymerization establishment or maintenance of actin cytoskeleton polarity stress-activated protein kinase signaling cascade extrinsic component of cytoplasmic side of plasma membrane actin cytoskeleton reorganization vesicle cell division site cleavage furrow positive regulation of cytokinesis ruffle membrane regulation of actin cytoskeleton organization negative regulation of intracellular steroid hormone receptor signaling pathway regulation of osteoblast proliferation cell junction assembly Roundabout signaling pathway cleavage furrow formation apolipoprotein A-I-mediated signaling pathway odontogenesis response to drug cell projection positive regulation of I-kappaB kinase/NF-kappaB signaling negative regulation of I-kappaB kinase/NF-kappaB signaling stress fiber assembly dendritic spine response to amino acid intracellular membrane-bounded organelle positive regulation of cysteine-type endopeptidase activity involved in apoptotic process apical junction complex apical junction assembly beta selection negative regulation of neuron apoptotic process positive regulation of neuron apoptotic process endothelial cell migration ossification involved in bone maturation wound healing, spreading of cells establishment of epithelial cell apical/basal polarity response to ethanol negative regulation of neuron differentiation positive regulation of neuron differentiation positive regulation of translation positive regulation of cell adhesion negative regulation of cell size positive regulation of vasoconstriction positive regulation of smooth muscle contraction GTP metabolic process positive regulation of alpha-beta T cell differentiation neuron projection morphogenesis regulation of dendrite development negative chemotaxis actin filament bundle assembly Rho GDP-dissociation inhibitor binding cell division response to glucocorticoid positive regulation of stress fiber assembly regulation of calcium ion transport positive regulation of lipase activity negative regulation of cell death trabecula morphogenesis regulation of microtubule cytoskeleton organization cellular response to lipopolysaccharide cellular response to cytokine stimulus positive regulation of podosome assembly positive regulation of protein serine/threonine kinase activity cell periphery negative regulation of cell migration involved in sprouting angiogenesis mitotic spindle assembly negative regulation of oxidative phosphorylation endothelial tube lumen extension postsynapse glutamatergic synapse positive regulation of NIK/NF-kappaB signaling skeletal muscle satellite cell migration negative regulation of reactive oxygen species biosynthetic process mitotic cleavage furrow formation positive regulation of vascular smooth muscle contraction positive regulation of leukocyte adhesion to vascular endothelial cell regulation of modification of synaptic structure regulation of modification of postsynaptic actin cytoskeleton cellular response to chemokine regulation of neural precursor cell proliferation positive regulation of T cell migration uc009rpe.1 uc009rpe.2 uc009rpe.3 uc009rpe.4 uc009rpe.5 
ENSMUST00000007961.15 Zmiz1 ENSMUST00000007961.15 zinc finger, MIZ-type containing 1, transcript variant 2 (from RefSeq NM_001310666.1) ENSMUST00000007961.1 ENSMUST00000007961.10 ENSMUST00000007961.11 ENSMUST00000007961.12 ENSMUST00000007961.13 ENSMUST00000007961.14 ENSMUST00000007961.2 ENSMUST00000007961.3 ENSMUST00000007961.4 ENSMUST00000007961.5 ENSMUST00000007961.6 ENSMUST00000007961.7 ENSMUST00000007961.8 ENSMUST00000007961.9 NM_001310666 Q6P1E1 Q6PDK9 Q6PF85 Q8BW47 Rai17 ZMIZ1_MOUSE Zimp10 uc007sro.1 uc007sro.2 uc007sro.3 uc007sro.4 uc007sro.5 Acts as a transcriptional coactivator. Increases ligand- dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation (By similarity). Also functions as a transcriptional coactivator in the TGF-beta signaling pathway by increasing the activity of the SMAD3/SMAD4 transcriptional complex (By similarity). Involved in transcriptional activation of a subset of NOTCH1 target genes including MYC. Involved in thymocyte and T cell development (PubMed:26522984). Involved in the regulation of postmitotic positioning of pyramidal neurons in the developing cerebral cortex (By similarity). Interacts with AR, but not with ESR1, NR3C1, PGR, THRB nor VDR. Interacts with NOTCH1 and RBPJ (By similarity). Interacts with SMARCA4. Interacts (via SP-RING-type domain) with SMAD3 and SMAD4 (via MH2 domain) (By similarity). Q6P1E1; Q3TKT4: Smarca4; NbExp=2; IntAct=EBI-647033, EBI-1210244; Nucleus, nucleoplasm Cytoplasm Note=Enriched at replication foci throughout S phase. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6P1E1-1; Sequence=Displayed; Name=2; IsoId=Q6P1E1-2; Sequence=VSP_012187; Expressed in brain. The C-terminal proline-rich domain possesses a significant intrinsic transcriptional activity. This activity is inhibited by the N-terminus in the full-length protein. The SP-RING-type domain mediates interaction with SMAD3 and SMAD4. Death between 9.5-10.5 dpc. Mice are approximately half the size of wild-type littermates and display vascular and cell viability defects. Some heterozygotes also do not survive but those that do have no apparent defects. [Isoform 2]: May be due to a competing acceptor splice site. Sequence=AAH57691.1; Type=Erroneous initiation; Evidence=; Sequence=BAC35753.1; Type=Frameshift; Evidence=; Sequence=BAC35753.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence=; RNA polymerase II transcription factor binding vasculogenesis in utero embryonic development heart morphogenesis transcription cofactor activity protein binding nucleus nucleoplasm cytoplasm regulation of transcription from RNA polymerase II promoter vitellogenesis cell aging zinc ion binding nuclear speck protein sumoylation ligand-dependent nuclear receptor transcription coactivator activity intracellular membrane-bounded organelle positive regulation of T cell differentiation positive regulation of Notch signaling pathway positive regulation of transcription from RNA polymerase II promoter metal ion binding chromatin-mediated maintenance of transcription positive regulation of fibroblast proliferation developmental growth artery morphogenesis SUMO ligase activity uc007sro.1 uc007sro.2 uc007sro.3 uc007sro.4 uc007sro.5 
ENSMUST00000007980.7 Hnrnpa0 ENSMUST00000007980.7 heterogeneous nuclear ribonucleoprotein A0 (from RefSeq NM_029872.1) ENSMUST00000007980.1 ENSMUST00000007980.2 ENSMUST00000007980.3 ENSMUST00000007980.4 ENSMUST00000007980.5 ENSMUST00000007980.6 Hnrpa0 NM_029872 Q9CX86 ROA0_MOUSE uc007qtf.1 uc007qtf.2 uc007qtf.3 mRNA-binding component of ribonucleosomes. Specifically binds AU-rich element (ARE)-containing mRNAs. Involved in post- transcriptional regulation of cytokines mRNAs. Nucleus Note=Component of ribonucleosomes. Phosphorylated at Ser-84 by MAPKAPK2 in response to LPS treatment, promoting stabilization of GADD45A mRNA. Arg-293 is dimethylated, probably to asymmetric dimethylarginine. nucleic acid binding RNA binding mRNA binding nucleus nucleoplasm mRNA processing inflammatory response protein kinase binding response to lipopolysaccharide mRNA 3'-UTR AU-rich region binding 3'-UTR-mediated mRNA stabilization ribonucleoprotein complex uc007qtf.1 uc007qtf.2 uc007qtf.3 
ENSMUST00000007993.16 Rbm28 ENSMUST00000007993.16 RNA binding motif protein 28 (from RefSeq NM_133925.2) E9QKF8 ENSMUST00000007993.1 ENSMUST00000007993.10 ENSMUST00000007993.11 ENSMUST00000007993.12 ENSMUST00000007993.13 ENSMUST00000007993.14 ENSMUST00000007993.15 ENSMUST00000007993.2 ENSMUST00000007993.3 ENSMUST00000007993.4 ENSMUST00000007993.5 ENSMUST00000007993.6 ENSMUST00000007993.7 ENSMUST00000007993.8 ENSMUST00000007993.9 NM_133925 Q3U0K5 Q8BG25 Q8CGC6 Q8VEJ8 Q9CS22 Q9CSE6 RBM28_MOUSE uc009bcy.1 uc009bcy.2 uc009bcy.3 uc009bcy.4 Nucleolar component of the spliceosomal ribonucleoprotein complexes. Interacts with U1, U2, U4, U5, and U6 spliceosomal small nuclear RNAs (snRNAs). Nucleus, nucleolus nucleic acid binding RNA binding nucleus spliceosomal complex nucleolus mRNA processing biological_process RNA splicing ribonucleoprotein complex uc009bcy.1 uc009bcy.2 uc009bcy.3 uc009bcy.4 
ENSMUST00000008004.10 Ddx49 ENSMUST00000008004.10 DEAD box helicase 49, transcript variant 1 (from RefSeq NM_001024922.2) DDX49_MOUSE ENSMUST00000008004.1 ENSMUST00000008004.2 ENSMUST00000008004.3 ENSMUST00000008004.4 ENSMUST00000008004.5 ENSMUST00000008004.6 ENSMUST00000008004.7 ENSMUST00000008004.8 ENSMUST00000008004.9 NM_001024922 Q4FZF3 uc009lzu.1 uc009lzu.2 uc009lzu.3 Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Belongs to the DEAD box helicase family. DDX49/DBP8 subfamily. nucleotide binding nucleic acid binding RNA binding RNA helicase activity helicase activity ATP binding nucleus rRNA processing hydrolase activity uc009lzu.1 uc009lzu.2 uc009lzu.3 
ENSMUST00000008016.3 Id3 ENSMUST00000008016.3 inhibitor of DNA binding 3 (from RefSeq NM_008321.2) ENSMUST00000008016.1 ENSMUST00000008016.2 Id3 NM_008321 Q545W1 Q545W1_MOUSE uc012dnf.1 uc012dnf.2 uc012dnf.3 Transcriptional regulator (lacking a basic DNA binding domain) which negatively regulates the basic helix-loop-helix (bHLH) transcription factors by forming heterodimers and inhibiting their DNA binding and transcriptional activity. Implicated in regulating a variety of cellular processes, including cellular growth, senescence, differentiation, apoptosis, angiogenesis, and neoplastic transformation. Involved in myogenesis by inhibiting skeletal muscle and cardiac myocyte differentiation and promoting muscle precursor cells proliferation. Inhibits the binding of E2A-containing protein complexes to muscle creatine kinase E-box enhancer. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer. Nucleus nucleus cytoplasm regulation of DNA replication response to wounding neuron differentiation positive regulation of apoptotic process negative regulation of sequence-specific DNA binding transcription factor activity negative regulation of transcription, DNA-templated protein dimerization activity regulation of cell cycle uc012dnf.1 uc012dnf.2 uc012dnf.3 
ENSMUST00000008021.3 Tcap ENSMUST00000008021.3 titin-cap (from RefSeq NM_011540.2) ENSMUST00000008021.1 ENSMUST00000008021.2 NM_011540 Q545G3 Q545G3_MOUSE Tcap uc007lgf.1 uc007lgf.2 skeletal muscle contraction cardiac muscle hypertrophy adult heart development structural constituent of muscle cardiac muscle hypertrophy in response to stress Z disc skeletal muscle thin filament assembly skeletal muscle myosin thick filament assembly protein binding, bridging titin binding detection of muscle stretch BMP binding ion channel binding sarcomere organization cardiac muscle fiber development sarcomerogenesis FATZ binding cardiac myofibril assembly cardiac muscle tissue morphogenesis cardiac muscle contraction titin Z domain binding uc007lgf.1 uc007lgf.2 
ENSMUST00000008032.14 Crlf1 ENSMUST00000008032.14 cytokine receptor-like factor 1, transcript variant 8 (from RefSeq NR_184405.1) CRLF1_MOUSE Crlm3 ENSMUST00000008032.1 ENSMUST00000008032.10 ENSMUST00000008032.11 ENSMUST00000008032.12 ENSMUST00000008032.13 ENSMUST00000008032.2 ENSMUST00000008032.3 ENSMUST00000008032.4 ENSMUST00000008032.5 ENSMUST00000008032.6 ENSMUST00000008032.7 ENSMUST00000008032.8 ENSMUST00000008032.9 NR_184405 Q9JM58 uc009maj.1 uc009maj.2 uc009maj.3 uc009maj.4 In complex with CLCF1, forms a heterodimeric neurotropic cytokine that plays a crucial role during neuronal development (By similarity). Plays a role in the initiation and/or maintenance of suckling in neonatal mice (PubMed:10359701). May also play a regulatory role in the immune system (By similarity). Forms covalent di- and tetramers. Forms a heteromeric complex with cardiotrophin-like cytokine CLCF1/CLC; the CRLF1-CLCF1 complex is a ligand for the ciliary neurotrophic factor receptor/CNTFR. The CRLF1- CLCF1 heterodimer, as well as tripartite signaling complex formed by CRLF1, CLCF1 and CNTFR bind SORL1 (via N-terminal ectodomain); within this complex, the interaction is mediated predominantly by the CRLF1 moiety. Secreted Widely expressed in the embryo. Not detected in the brain of adult mice. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding. Belongs to the type I cytokine receptor family. Type 3 subfamily. ureteric bud development cytokine receptor activity cytokine activity ciliary neurotrophic factor receptor binding extracellular region extracellular space signal transduction positive regulation of cell proliferation external side of plasma membrane cytokine-mediated signaling pathway cytokine binding positive regulation of tyrosine phosphorylation of STAT protein receptor complex negative regulation of neuron apoptotic process protein heterodimerization activity CRLF-CLCF1 complex negative regulation of motor neuron apoptotic process uc009maj.1 uc009maj.2 uc009maj.3 uc009maj.4 
ENSMUST00000008036.9 Rplp1 ENSMUST00000008036.9 ribosomal protein lateral stalk subunit P1 (from RefSeq NM_018853.3) ENSMUST00000008036.1 ENSMUST00000008036.2 ENSMUST00000008036.3 ENSMUST00000008036.4 ENSMUST00000008036.5 ENSMUST00000008036.6 ENSMUST00000008036.7 ENSMUST00000008036.8 NM_018853 Q58E35 Q58E35_MOUSE Rplp1 uc009pzt.1 uc009pzt.2 uc009pzt.3 Plays an important role in the elongation step of protein synthesis. Heterodimer with RPLP2 at the lateral ribosomal stalk of the large ribosomal subunit. Belongs to the eukaryotic ribosomal protein P1/P2 family. structural constituent of ribosome ribosome translational elongation cytosolic large ribosomal subunit uc009pzt.1 uc009pzt.2 uc009pzt.3 
ENSMUST00000008051.5 Cabs1 ENSMUST00000008051.5 calcium binding protein, spermatid specific 1 (from RefSeq NM_027631.3) CABS1_MOUSE ENSMUST00000008051.1 ENSMUST00000008051.2 ENSMUST00000008051.3 ENSMUST00000008051.4 NM_027631 Q8C633 Q9D4L4 uc008xzj.1 uc008xzj.2 uc008xzj.3 Calcium-binding protein (PubMed:19208547). Essential for maintaining the structural integrity of the sperm flagella (PubMed:33440775). Cytoplasm Mitochondrion inner membrane Cell projection, cilium, flagellum toplasmic vesicle, secretory vesicle, acrosome Note=Mostly cytoplasmic, but associated with the mitochondrial inner membrane during the last steps of spermatid differentiation (By similarity). Localizes to the principal piece of the sperm flagellum (PubMed:19208547, PubMed:33440775). Detected only in testis. Expressed from stages X to VIII of the seminiferous epithelial cycle. Expressed from step 13 to step 16 of spermatid development (at protein level). Down-regulated by Busulfan. Males exhibit significantly impaired sperm tail structure and subfertility (PubMed:33440775). Defects in sperm flagellar differentiation leads to an abnormal annulus and disorganization of the midpiece-principal piece junction (PubMed:33440775). calcium ion binding cytoplasm mitochondrion mitochondrial inner membrane cilium spermatogenesis motile cilium cell projection uc008xzj.1 uc008xzj.2 uc008xzj.3 
ENSMUST00000008052.13 Hmgcll1 ENSMUST00000008052.13 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1, transcript variant 1 (from RefSeq NM_173731.3) ENSMUST00000008052.1 ENSMUST00000008052.10 ENSMUST00000008052.11 ENSMUST00000008052.12 ENSMUST00000008052.2 ENSMUST00000008052.3 ENSMUST00000008052.4 ENSMUST00000008052.5 ENSMUST00000008052.6 ENSMUST00000008052.7 ENSMUST00000008052.8 ENSMUST00000008052.9 HMGC2_MOUSE NM_173731 Q8JZS7 uc009qsx.1 uc009qsx.2 uc009qsx.3 Non-mitochondrial 3-hydroxymethyl-3-methylglutaryl-CoA lyase that catalyzes a cation-dependent cleavage of (S)-3-hydroxy-3- methylglutaryl-CoA into acetyl-CoA and acetoacetate, a key step in ketogenesis, the products of which support energy production in nonhepatic animal tissues. Reaction=(3S)-hydroxy-3-methylglutaryl-CoA = acetoacetate + acetyl-CoA; Xref=Rhea:RHEA:24404, ChEBI:CHEBI:13705, ChEBI:CHEBI:43074, ChEBI:CHEBI:57288; EC=4.1.3.4; Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240; Evidence=; Metabolic intermediate metabolism; (S)-3-hydroxy-3- methylglutaryl-CoA degradation; acetoacetate from (S)-3-hydroxy-3- methylglutaryl-CoA: step 1/1. Cytoplasm, cytosol Endoplasmic reticulum membrane ; Peripheral membrane protein Belongs to the HMG-CoA lyase family. catalytic activity hydroxymethylglutaryl-CoA lyase activity cytoplasm endoplasmic reticulum endoplasmic reticulum membrane cytosol leucine catabolic process lipid metabolic process membrane lyase activity metal ion binding ketone body biosynthetic process perinuclear region of cytoplasm uc009qsx.1 uc009qsx.2 uc009qsx.3 
ENSMUST00000008088.9 Ttc9b ENSMUST00000008088.9 tetratricopeptide repeat domain 9B (from RefSeq NM_028417.1) ENSMUST00000008088.1 ENSMUST00000008088.2 ENSMUST00000008088.3 ENSMUST00000008088.4 ENSMUST00000008088.5 ENSMUST00000008088.6 ENSMUST00000008088.7 ENSMUST00000008088.8 NM_028417 Q8BYN8 Q9D6E4 TTC9B_MOUSE uc009fwu.1 uc009fwu.2 uc009fwu.3 Belongs to the TTC9 family. Sequence=BAC30153.1; Type=Erroneous initiation; Evidence=; molecular_function cellular_component biological_process uc009fwu.1 uc009fwu.2 uc009fwu.3 
ENSMUST00000008090.11 Phox2a ENSMUST00000008090.11 paired-like homeobox 2a (from RefSeq NM_008887.2) Arix ENSMUST00000008090.1 ENSMUST00000008090.10 ENSMUST00000008090.2 ENSMUST00000008090.3 ENSMUST00000008090.4 ENSMUST00000008090.5 ENSMUST00000008090.6 ENSMUST00000008090.7 ENSMUST00000008090.8 ENSMUST00000008090.9 NM_008887 PHX2A_MOUSE Phox2 Pmx2 Pmx2a Q62066 uc009ipe.1 uc009ipe.2 uc009ipe.3 May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype (By similarity). Nucleus Belongs to the paired homeobox family. nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding noradrenergic neuron differentiation DNA binding nucleus regulation of transcription, DNA-templated multicellular organism development nervous system development somatic motor neuron differentiation oculomotor nerve formation trochlear nerve formation locus ceruleus development midbrain development sequence-specific DNA binding regulation of respiratory gaseous exchange positive regulation of transcription from RNA polymerase II promoter autonomic nervous system development enteric nervous system development sympathetic nervous system development parasympathetic nervous system development uc009ipe.1 uc009ipe.2 uc009ipe.3 
ENSMUST00000008094.10 Abhd8 ENSMUST00000008094.10 abhydrolase domain containing 8 (from RefSeq NM_022419.3) ABHD8_MOUSE Abhd8 ENSMUST00000008094.1 ENSMUST00000008094.2 ENSMUST00000008094.3 ENSMUST00000008094.4 ENSMUST00000008094.5 ENSMUST00000008094.6 ENSMUST00000008094.7 ENSMUST00000008094.8 ENSMUST00000008094.9 NM_022419 Q8R0P8 Q9DC79 Q9JMF5 uc009mdf.1 uc009mdf.2 uc009mdf.3 uc009mdf.4 Belongs to the AB hydrolase superfamily. It is uncertain whether Met-1 or Met-7 is the initiator. catalytic activity hydrolase activity uc009mdf.1 uc009mdf.2 uc009mdf.3 uc009mdf.4 
ENSMUST00000008350.16 Cers4 ENSMUST00000008350.16 ceramide synthase 4 (from RefSeq NM_026058.4) CERS4_MOUSE Cers4 ENSMUST00000008350.1 ENSMUST00000008350.10 ENSMUST00000008350.11 ENSMUST00000008350.12 ENSMUST00000008350.13 ENSMUST00000008350.14 ENSMUST00000008350.15 ENSMUST00000008350.2 ENSMUST00000008350.3 ENSMUST00000008350.4 ENSMUST00000008350.5 ENSMUST00000008350.6 ENSMUST00000008350.7 ENSMUST00000008350.8 ENSMUST00000008350.9 Lass4 NM_026058 Q8BZA6 Q8C151 Q9CX09 Q9D6J1 Trh1 uc009ktx.1 uc009ktx.2 uc009ktx.3 uc009ktx.4 Ceramide synthase that catalyzes formation of ceramide from sphinganine and acyl-CoA substrates, with high selectivity toward long and very-long chains (C18:0-C22:0) as acyl donor. Reaction=octadecanoyl-CoA + sphinganine = CoA + H(+) + N- (octadecanoyl)-sphinganine; Xref=Rhea:RHEA:36547, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:57817, ChEBI:CHEBI:67033; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36548; Evidence=; Reaction=eicosanoyl-CoA + sphinganine = CoA + H(+) + N- eicosanoylsphinganine; Xref=Rhea:RHEA:36555, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380, ChEBI:CHEBI:57817, ChEBI:CHEBI:67027; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36556; Evidence=; Reaction=docosanoyl-CoA + sphinganine = CoA + H(+) + N- docosanoylsphinganine; Xref=Rhea:RHEA:36535, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:65059, ChEBI:CHEBI:67021; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36536; Evidence=; Reaction=sphinganine + tetracosanoyl-CoA = CoA + H(+) + N- tetracosanoylsphinganine; Xref=Rhea:RHEA:33591, ChEBI:CHEBI:15378, ChEBI:CHEBI:52961, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:65052; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:33592; Evidence=; Reaction=hexacosanoyl-CoA + sphinganine = CoA + H(+) + N- hexacosanoylsphinganine; Xref=Rhea:RHEA:33351, ChEBI:CHEBI:15378, ChEBI:CHEBI:52962, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:64868; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:33352; Evidence=; Reaction=a fatty acyl-CoA + sphing-4-enine = an N-acylsphing-4-enine + CoA + H(+); Xref=Rhea:RHEA:23768, ChEBI:CHEBI:15378, ChEBI:CHEBI:52639, ChEBI:CHEBI:57287, ChEBI:CHEBI:57756, ChEBI:CHEBI:77636; EC=2.3.1.24; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:23769; Evidence=; Reaction=octadecanoyl-CoA + sphing-4-enine = CoA + H(+) + N- octadecanoylsphing-4-enine; Xref=Rhea:RHEA:36691, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:57756, ChEBI:CHEBI:72961; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36692; Evidence=; Reaction=hexadecasphinganine + octadecanoyl-CoA = CoA + H(+) + N- octadecanoylhexadecasphinganine; Xref=Rhea:RHEA:43044, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:71009, ChEBI:CHEBI:82811; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43045; Evidence=; Lipid metabolism; sphingolipid metabolism. Endoplasmic reticulum membrane ; Multi-pass membrane protein Ubiquitously expressed, with highest levels in skin. The last loop motif confers selectivity toward stearoyl-CoA (octadecanoyl-CoA; C18:0-CoA) to behenoyl-CoA (docosanoyl-CoA; C22:0- CoA) as acyl donors. Phosphorylated at the C-terminus by CK2. Some prediction bioinformatics tools predict the presence of a homeobox domain (By similarity). However, the domain is degenerate and residues that are important for DNA-binding are absent (By similarity). Moreover, the protein localizes in the endoplasmic reticulum and not in the nucleus, strongly suggesting that it does not constitute a canonical homeobox domain (PubMed:12912983). DNA binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process sphingolipid metabolic process membrane integral component of membrane transferase activity sphingolipid biosynthetic process ceramide biosynthetic process sphingosine N-acyltransferase activity uc009ktx.1 uc009ktx.2 uc009ktx.3 uc009ktx.4 
ENSMUST00000008445.7 Phax ENSMUST00000008445.7 phosphorylated adaptor for RNA export, transcript variant 1 (from RefSeq NM_019996.4) ENSMUST00000008445.1 ENSMUST00000008445.2 ENSMUST00000008445.3 ENSMUST00000008445.4 ENSMUST00000008445.5 ENSMUST00000008445.6 NM_019996 PHAX_MOUSE Q8BSR8 Q9JJT9 Rnuxa uc008eyq.1 uc008eyq.2 uc008eyq.3 uc008eyq.4 A phosphoprotein adapter involved in the XPO1-mediated U snRNA export from the nucleus. Bridge components required for U snRNA export, the cap binding complex (CBC)-bound snRNA on the one hand and the GTPase Ran in its active GTP-bound form together with the export receptor XPO1 on the other. Its phosphorylation in the nucleus is required for U snRNA export complex assembly and export, while its dephosphorylation in the cytoplasm causes export complex disassembly. It is recycled back to the nucleus via the importin alpha/beta heterodimeric import receptor. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Its compartmentalized phosphorylation cycle may also contribute to the directionality of export. Binds strongly to m7G-capped U1 and U5 small nuclear RNAs (snRNAs) in a sequence-unspecific manner and phosphorylation-independent manner. Also plays a role in the biogenesis of U3 small nucleolar RNA (snoRNA). Involved in the U3 snoRNA transport from nucleoplasm to Cajal bodies. Binds strongly to m7G-capped U3, U8 and U13 precursor snoRNAs and weakly to trimethylated (TMG)-capped U3, U8 and U13 snoRNAs. Binds also to telomerase RNA (By similarity). Found in a U snRNA export complex with PHAX/RNUXA, NCBP1/CBP80, NCBP2/CBP20, RAN, XPO1 and m7G-capped RNA. Part of a precomplex with PHAX/RNUXA, NCBP1/CBP80, NCBP2/CBP20 and m7G-capped RNA. Interacts with NCBP1/CBP80. Found in a complex with snoRNA. Interacts with NCBP2/CBP20 (By similarity). Nucleus Nucleus, nucleoplasm Nucleus, Cajal body Cytoplasm Note=Shuttles between the nucleus and the cytoplasm. Shuttles between the nucleoplasm and Cajal bodies. Phosphorylated in the nucleus. Dephosphorylated in the cytoplasm. Belongs to the PHAX family. RNA binding nucleus nucleoplasm cytoplasm centrosome snRNA export from nucleus Cajal body protein transport toxic substance binding neuronal cell body uc008eyq.1 uc008eyq.2 uc008eyq.3 uc008eyq.4 
ENSMUST00000008451.12 1700109H08Rik ENSMUST00000008451.12 RIKEN cDNA 1700109H08 gene (from RefSeq NM_029843.3) 1700109H08Rik ENSMUST00000008451.1 ENSMUST00000008451.10 ENSMUST00000008451.11 ENSMUST00000008451.2 ENSMUST00000008451.3 ENSMUST00000008451.4 ENSMUST00000008451.5 ENSMUST00000008451.6 ENSMUST00000008451.7 ENSMUST00000008451.8 ENSMUST00000008451.9 NM_029843 Q9D9C0 Q9D9C0_MOUSE uc008wha.1 uc008wha.2 uc008wha.3 molecular_function calcium ion binding cellular_component biological_process uc008wha.1 uc008wha.2 uc008wha.3 
ENSMUST00000008462.11 Relt ENSMUST00000008462.11 RELT tumor necrosis factor receptor, transcript variant 1 (from RefSeq NM_177073.6) ENSMUST00000008462.1 ENSMUST00000008462.10 ENSMUST00000008462.2 ENSMUST00000008462.3 ENSMUST00000008462.4 ENSMUST00000008462.5 ENSMUST00000008462.6 ENSMUST00000008462.7 ENSMUST00000008462.8 ENSMUST00000008462.9 NM_177073 Q497Z8 Q8BTV0 Q8BX43 TR19L_MOUSE Tnfrsf19l uc009int.1 uc009int.2 uc009int.3 uc009int.4 May play a role in apoptosis. Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed. Involved in dental enamel formation (PubMed:30506946). Interacts with RELL1, RELL2, OXSR1, PLSCR1 and STK39. Cell membrane ; Single-pass type I membrane protein Cytoplasm Cytoplasm, perinuclear region Expressed in the teeth. Expressed by secretory stage ameloblasts and by odontoblasts at postnatal day 5. It is not detected in maturation stage ameloblasts and only residual expression is observed in odontoblasts by postnatal day 12. Phosphorylated in vitro by OXSR1. Phosphorylated by STK39. Belongs to the RELT family. nucleus cytoplasm plasma membrane apoptotic process programmed cell death membrane integral component of membrane perinuclear region of cytoplasm uc009int.1 uc009int.2 uc009int.3 uc009int.4 
ENSMUST00000008477.13 Snrpb2 ENSMUST00000008477.13 U2 small nuclear ribonucleoprotein B (from RefSeq NM_021335.3) ENSMUST00000008477.1 ENSMUST00000008477.10 ENSMUST00000008477.11 ENSMUST00000008477.12 ENSMUST00000008477.2 ENSMUST00000008477.3 ENSMUST00000008477.4 ENSMUST00000008477.5 ENSMUST00000008477.6 ENSMUST00000008477.7 ENSMUST00000008477.8 ENSMUST00000008477.9 NM_021335 Q9CQI7 Q9CW35 Q9CZ66 RU2B_MOUSE uc008mqb.1 uc008mqb.2 uc008mqb.3 Involved in pre-mRNA splicing as component of the spliceosome. Associated with sn-RNP U2, where it contributes to the binding of stem loop IV of U2 snRNA. Identified in the spliceosome B complex. Identified in the spliceosome C complex. Present in a spliceosome complex assembled in vitro, and composed of SNRPB2, HPRP8BP and CRNKL1. Contributes to the binding of stem loop IV of U2 snRNA with SNRPP1. Nucleus Belongs to the RRM U1 A/B'' family. mRNA splicing, via spliceosome fibrillar center nucleic acid binding RNA binding protein binding nucleus spliceosomal complex U1 snRNP U2 snRNP mRNA processing RNA splicing nuclear speck small nuclear ribonucleoprotein complex U1 snRNA binding snRNP binding U2-type precatalytic spliceosome U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome uc008mqb.1 uc008mqb.2 uc008mqb.3 
ENSMUST00000008517.13 Prpf31 ENSMUST00000008517.13 pre-mRNA processing factor 31, transcript variant 1 (from RefSeq NM_027328.4) E9QPM6 ENSMUST00000008517.1 ENSMUST00000008517.10 ENSMUST00000008517.11 ENSMUST00000008517.12 ENSMUST00000008517.2 ENSMUST00000008517.3 ENSMUST00000008517.4 ENSMUST00000008517.5 ENSMUST00000008517.6 ENSMUST00000008517.7 ENSMUST00000008517.8 ENSMUST00000008517.9 NM_027328 PRP31_MOUSE Prp31 Q6P7X2 Q8BQ91 Q8C8U4 Q8C8V5 Q8CCF0 Q8CCG6 Q8CF52 Q8VBW3 uc009evi.1 uc009evi.2 uc009evi.3 uc009evi.4 uc009evi.5 Involved in pre-mRNA splicing as component of the spliceosome. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome. Identified in the spliceosome B complex. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39. Interacts with a complex formed by SNU13 and U4 snRNA, but not with SNU13 or U4 snRNA alone. The complex formed by SNU13 and PRPF31 binds also U4atac snRNA, a characteristic component of specific, less abundant spliceosomal complexes. Interacts with PRPF6/U5 snRNP-associated 102 kDa protein. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts (via its NLS) with CTNNBL1. Interacts with USH1G (By similarity). Nucleus Nucleus speckle Nucleus, Cajal body Note=Predominantly found in speckles and in Cajal bodies. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8CCF0-1; Sequence=Displayed; Name=2; IsoId=Q8CCF0-2; Sequence=VSP_017591; Name=4; IsoId=Q8CCF0-4; Sequence=VSP_017589, VSP_017590; Interacts with the snRNP via the Nop domain. The coiled coil domain is formed by two non-contiguous helices. [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Belongs to the PRP31 family. Sequence=BAC25109.1; Type=Frameshift; Evidence=; Sequence=BAC31903.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. The C-terminus matches chromosome 19 region.; Evidence=; Sequence=BAC31931.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence=; Sequence=BAC34578.1; Type=Frameshift; Evidence=; spliceosomal tri-snRNP complex assembly mRNA splicing, via spliceosome RNA binding nucleus spliceosomal complex U4 snRNP U4atac snRNP mRNA processing RNA splicing Cajal body nuclear speck U4 snRNA binding U4atac snRNA binding ribonucleoprotein complex binding U4/U6 x U5 tri-snRNP complex snRNP binding U2-type precatalytic spliceosome ribonucleoprotein complex localization MLL1 complex uc009evi.1 uc009evi.2 uc009evi.3 uc009evi.4 uc009evi.5 
ENSMUST00000008528.8 Sertad1 ENSMUST00000008528.8 SERTA domain containing 1, transcript variant 1 (from RefSeq NM_018820.5) ENSMUST00000008528.1 ENSMUST00000008528.2 ENSMUST00000008528.3 ENSMUST00000008528.4 ENSMUST00000008528.5 ENSMUST00000008528.6 ENSMUST00000008528.7 NM_018820 Q925E6 Q9D888 Q9JL10 SRTD1_MOUSE Sei1 uc009fwh.1 uc009fwh.2 uc009fwh.3 Acts at E2F-responsive promoters as coregulator to integrate signals provided by PHD- and/or bromodomain-containing transcription factors. Stimulates E2F1/TFDP1 transcriptional activity. Renders the activity of cyclin D1/CDK4 resistant to the inhibitory effects of CDKN2A/p16INK4A. Interacts with the PHD-bromodomain of TIF1, TRIM28/TIF1B and p300/CBP. Interacts with E2F1 and TFDP1; modulates transactivation activity of TFDP1/E2F complexes. Also interacts with CDK4. Detected at in testis, lung and, at lower levels, in muscle, liver, spleen, brain and heart. Detected as early as 7 dpc and persist until, at least, 17 dpc. Polyubiquitinated, which promotes proteasomal degradation. protein binding nucleus cytoplasm negative regulation of cell growth positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter uc009fwh.1 uc009fwh.2 uc009fwh.3 
ENSMUST00000008537.10 Carhsp1 ENSMUST00000008537.10 calcium regulated heat stable protein 1 (from RefSeq NM_025821.2) CHSP1_MOUSE ENSMUST00000008537.1 ENSMUST00000008537.2 ENSMUST00000008537.3 ENSMUST00000008537.4 ENSMUST00000008537.5 ENSMUST00000008537.6 ENSMUST00000008537.7 ENSMUST00000008537.8 ENSMUST00000008537.9 NM_025821 Q9CR86 uc007yct.1 uc007yct.2 uc007yct.3 Binds mRNA and regulates the stability of target mRNA. Homodimer. Interacts with STYX (By similarity). Cytoplasm Cytoplasm, P-body Cytoplasmic granule Note=Detected at cytoplasmic stress granules and P-bodies. Detected at exosome granules where mRNA is degraded. Can be phosphorylated by DYRK2 (in vitro). Dephosphorylated by calcineurin in a Ca(2+) dependent manner (By similarity). P-body nucleic acid binding RNA binding mRNA 3'-UTR binding protein binding cytoplasm cytosol P granule regulation of mRNA stability cytoplasmic exosome (RNase complex) uc007yct.1 uc007yct.2 uc007yct.3 
ENSMUST00000008542.12 Elk3 ENSMUST00000008542.12 ELK3, member of ETS oncogene family, transcript variant 1 (from RefSeq NM_013508.2) ELK3_MOUSE ENSMUST00000008542.1 ENSMUST00000008542.10 ENSMUST00000008542.11 ENSMUST00000008542.2 ENSMUST00000008542.3 ENSMUST00000008542.4 ENSMUST00000008542.5 ENSMUST00000008542.6 ENSMUST00000008542.7 ENSMUST00000008542.8 ENSMUST00000008542.9 Erp NM_013508 Net P41971 P97747 Q62346 Q8BWH1 uc011xlt.1 uc011xlt.2 uc011xlt.3 May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos. Forms a ternary complex with the serum response factor and the ETS and SRF motifs of the Fos serum response element. Interacts with CTBP1. Nucleus. Heart, liver, lung, kidney and muscle. Belongs to the ETS family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding angiogenesis DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm mitochondrion regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell differentiation purine-rich negative regulatory element binding wound healing sequence-specific DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter uc011xlt.1 uc011xlt.2 uc011xlt.3 
ENSMUST00000008573.9 Herpud2 ENSMUST00000008573.9 HERPUD family member 2 (from RefSeq NM_020586.2) ENSMUST00000008573.1 ENSMUST00000008573.2 ENSMUST00000008573.3 ENSMUST00000008573.4 ENSMUST00000008573.5 ENSMUST00000008573.6 ENSMUST00000008573.7 ENSMUST00000008573.8 HERP2_MOUSE MNCb-2040 NM_020586 Q8K2W2 Q9CSZ4 Q9D2D0 Q9JJC9 uc009oph.1 uc009oph.2 uc009oph.3 uc009oph.4 Could be involved in the unfolded protein response (UPR) pathway. Membrane ; Single-pass membrane protein molecular_function cellular_component response to unfolded protein spermatogenesis membrane integral component of membrane endoplasmic reticulum unfolded protein response uc009oph.1 uc009oph.2 uc009oph.3 uc009oph.4 
ENSMUST00000008579.14 Rdh13 ENSMUST00000008579.14 retinol dehydrogenase 13 (all-trans and 9-cis), transcript variant 1 (from RefSeq NM_175372.4) ENSMUST00000008579.1 ENSMUST00000008579.10 ENSMUST00000008579.11 ENSMUST00000008579.12 ENSMUST00000008579.13 ENSMUST00000008579.2 ENSMUST00000008579.3 ENSMUST00000008579.4 ENSMUST00000008579.5 ENSMUST00000008579.6 ENSMUST00000008579.7 ENSMUST00000008579.8 ENSMUST00000008579.9 NM_175372 Q8CC07 Q8CEE7 RDH13_MOUSE uc009exm.1 uc009exm.2 uc009exm.3 uc009exm.4 Retinol dehydrogenase with a clear preference for NADP. Oxidizes all-trans-retinol, but seems to reduce all-trans-retinal with much higher efficiency. Has no activity towards steroid. Reaction=all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH; Xref=Rhea:RHEA:25033, ChEBI:CHEBI:15378, ChEBI:CHEBI:17336, ChEBI:CHEBI:17898, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.300; Evidence=; Cofactor metabolism; retinol metabolism. Mitochondrion inner membrane ; Peripheral membrane protein Note=Localized on the outer side of the inner mitochondrial membrane. Belongs to the short-chain dehydrogenases/reductases (SDR) family. mitochondrion mitochondrial inner membrane response to high light intensity retina layer formation membrane oxidoreductase activity eye photoreceptor cell development retinol metabolic process retinal metabolic process NADP-retinol dehydrogenase activity oxidation-reduction process uc009exm.1 uc009exm.2 uc009exm.3 uc009exm.4 
ENSMUST00000008582.4 Adam21 ENSMUST00000008582.4 a disintegrin and metallopeptidase domain 21 (from RefSeq NM_020330.5) A2RSL1 ADA21_MOUSE Adam31 ENSMUST00000008582.1 ENSMUST00000008582.2 ENSMUST00000008582.3 NM_020330 Q9JI76 uc007ock.1 uc007ock.2 uc007ock.3 uc007ock.4 This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. The encoded protein functions in the regulation of spermatogenesis in the testes and neurogenesis in the central nervous system. [provided by RefSeq, May 2016]. ##Evidence-Data-START## Transcript exon combination :: AK014827.2, BY714350.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849381, SAMN00849384 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be involved in sperm maturation and/or fertilization. May also be involved in epithelia functions associated with establishing and maintaining gradients of ions or nutrients. Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Membrane; Single-pass type I membrane protein. Highly expressed in Leydig cells. Expressed also in cauda epididymidis, vas deferens, convoluted tubules, kidney and the parietal cells of stomach. Not detected on developing spermatocytes or mature sperm. A tripeptide motif (VGE) within disintegrin-like domain could be involved in the binding to egg integrin receptor and thus could mediate sperm/egg binding. The cysteine-rich domain encodes putative cell-fusion peptides, which could be involved in sperm-egg fusion. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation- peptide release activates the enzyme. Has no obvious cleavage site for furin endopeptidase, suggesting that the proteolytic processing is regulated. metalloendopeptidase activity proteolysis peptidase activity metallopeptidase activity membrane integral component of membrane hydrolase activity axon neuron projection neuronal cell body metal ion binding uc007ock.1 uc007ock.2 uc007ock.3 uc007ock.4 
ENSMUST00000008594.9 Nutf2 ENSMUST00000008594.9 nuclear transport factor 2, transcript variant 1 (from RefSeq NM_026532.4) ENSMUST00000008594.1 ENSMUST00000008594.2 ENSMUST00000008594.3 ENSMUST00000008594.4 ENSMUST00000008594.5 ENSMUST00000008594.6 ENSMUST00000008594.7 ENSMUST00000008594.8 NM_026532 NTF2_MOUSE Ntf2 Nutf2 P13662 P61971 Q3TI35 uc009nej.1 uc009nej.2 uc009nej.3 uc009nej.4 Mediates the import of GDP-bound RAN from the cytoplasm into the nucleus which is essential for the function of RAN in cargo receptor-mediated nucleocytoplasmic transport. Thereby, plays indirectly a more general role in cargo receptor-mediated nucleocytoplasmic transport. Interacts with GDP-bound RAN in the cytosol, recruits it to the nuclear pore complex via its interaction with nucleoporins and promotes its nuclear import. Homodimer. Interacts with RAN (GDP-bound form); the interaction is direct and regulates RAN nuclear import. Interacts with the nucleoporins NUP54, NUP58 and NUP62 (via FG repeats); recruits NUTF2 to the nuclear pore complex a step required for NUTF2-mediated GDP-bound RAN nuclear import. Interacts with CAPG; mediates its nuclear import. Cytoplasm, cytosol Nucleus outer membrane Nucleus, nuclear pore complex Nucleus inner membrane Nucleus, nucleoplasm Note=At steady state it is essentially nucleoplasmic, enriched in nucleoplasmic foci. nucleus nuclear inner membrane nuclear outer membrane nuclear pore nucleoplasm cytoplasm cytosol protein import into nucleus protein export from nucleus nucleocytoplasmic transport Ran GTPase binding protein transport membrane structural constituent of nuclear pore nuclear membrane positive regulation of protein import into nucleus identical protein binding nuclear pore central transport channel mRNA transport nuclear import signal receptor activity protein localization to nuclear pore negative regulation of vascular endothelial growth factor production uc009nej.1 uc009nej.2 uc009nej.3 uc009nej.4 
ENSMUST00000008605.6 Fut1 ENSMUST00000008605.6 fucosyltransferase 1, transcript variant 1 (from RefSeq NM_008051.6) ENSMUST00000008605.1 ENSMUST00000008605.2 ENSMUST00000008605.3 ENSMUST00000008605.4 ENSMUST00000008605.5 FUT1_MOUSE Fut1 NM_008051 O09160 P97327 uc009gwg.1 uc009gwg.2 uc009gwg.3 This gene is one of three genes in mouse which encode a galactoside 2-L-fucosyltransferase. These genes differ in their developmental- and tissue-specific expression. The encoded type II membrane protein is anchored in the Golgi apparatus and controls the final step in the creation of alpha (1,2) fucosylated carbhohydrates by the addition of a terminal fucose in an alpha (1,2) linkage. This enzyme is required for the synthesis of the Lewis antigen as well as the H-antigen, a precursor of the A and B antigens of the ABH histo-blood group. The biological function of the fucosylated carbhohydrate products is thought to involve cell-adhesion and interactions with microorganisms. Disruption of this gene impairs development of the olfactory nerve and maturation of the glomerular layer of the main olfactory bulb. Alternative splicing results in multiple transcript variants which encode distinct isoforms. [provided by RefSeq, Dec 2012]. Catalyzes the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the terminal galactose residue of glycoconjugates through an alpha(1,2) linkage leading to H antigen synthesis that is an intermediate substrate in the synthesis of ABO blood group antigens (PubMed:11368156, PubMed:14967068, PubMed:16884711). H antigen is essential for maturation of the glomerular layer of the main olfactory bulb, in cell migration and early cell-cell contacts during tumor associated angiogenesis (PubMed:16884711). Preferentially fucosylates soluble lactose and to a lesser extent, fucosylates glycolipids gangliosides GA1 and GM1a (PubMed:11368156, PubMed:14967068). Reaction=a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + GDP-beta-L-fucose = an alpha-L-Fuc-(1->2)-beta-D-Gal- (1->4)-beta-D-GlcNAc derivative + GDP + H(+); Xref=Rhea:RHEA:50668, ChEBI:CHEBI:15378, ChEBI:CHEBI:57273, ChEBI:CHEBI:58189, ChEBI:CHEBI:133507, ChEBI:CHEBI:133510; EC=2.4.1.344; Evidence=; Reaction=a ganglioside GA1 + GDP-beta-L-fucose = a ganglioside Fuc-GA1 + GDP + H(+); Xref=Rhea:RHEA:48320, ChEBI:CHEBI:15378, ChEBI:CHEBI:57273, ChEBI:CHEBI:58189, ChEBI:CHEBI:88069, ChEBI:CHEBI:90262; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48321; Evidence=; Reaction=a beta-D-Gal-(1->3)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)- beta-D-Glc-(1<->1')-Cer(d18:1(4E)) + GDP-beta-L-fucose = alpha-L- fucosyl-(1->2)- beta-D-galactosyl-(1->3)-N-acetyl-beta-D- glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl- (1<->1')-N-acylsphing-4-enine + GDP + H(+); Xref=Rhea:RHEA:32175, ChEBI:CHEBI:15378, ChEBI:CHEBI:17292, ChEBI:CHEBI:28743, ChEBI:CHEBI:57273, ChEBI:CHEBI:58189; EC=2.4.1.69; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:32176; Evidence=; Reaction=a neolactoside nLc4Cer(d18:1(4E)) + GDP-beta-L-fucose = a neolactoside IV(2)-alpha-Fuc-nLc4Cer(d18:1(4E)) + GDP + H(+); Xref=Rhea:RHEA:48304, ChEBI:CHEBI:15378, ChEBI:CHEBI:17006, ChEBI:CHEBI:28691, ChEBI:CHEBI:57273, ChEBI:CHEBI:58189; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48305; Evidence=; Reaction=a ganglioside GM1 + GDP-beta-L-fucose = a ganglioside Fuc-GM1 + GDP + H(+); Xref=Rhea:RHEA:48292, ChEBI:CHEBI:15378, ChEBI:CHEBI:57273, ChEBI:CHEBI:58189, ChEBI:CHEBI:82639, ChEBI:CHEBI:90189; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48293; Evidence=; Reaction=beta-D-galactosyl-(1->3)-N-acetyl-D-galactosamine + GDP-beta- L-fucose = alpha-L-fucosyl-(1->2)-beta-D-galactosyl-(1->3)-N-acetyl- D-galactosamine + GDP + H(+); Xref=Rhea:RHEA:62964, ChEBI:CHEBI:15378, ChEBI:CHEBI:57273, ChEBI:CHEBI:58189, ChEBI:CHEBI:84728, ChEBI:CHEBI:546807; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:62965; Evidence=; Kinetic parameters: KM=28.85 mM for phenyl-beta-D-Galactoside ; KM=29.09 mM for lactose ; KM=0.24 mM for ganglioside GA1 ; KM=22.5 uM for ganglioside GA1 ; KM=10.8 uM for nLc4Cer ; KM=6.2 uM for Lc4Cer ; KM=4.3 uM for GM1 ; Protein modification; protein glycosylation. Golgi apparatus, Golgi stack membrane ; Single-pass type II membrane protein Note=Membrane-bound form in trans cisternae of Golgi. In the adult, highly expressed in pancreas, testis and epididymis and to a lesser extent in thymus, lung, stomach, small intestine, colon, spleen and uterus. Not expressed in brain, heart, skeletal muscle, kidney, liver and bone marrow (PubMed:9355741). Expressed in epididymis and testis (PubMed:11368156). Homozygous mutant knockout mice for Fut1 develop normally, exhibit no gross phenotypic abnormalities and the Fucalpha(1-->2)Galbeta epitope is absent from the epithelia of the epididymis mice. In mouse, there are three genes (Fut1, Fut2 and Sec1) which encode galactoside 2-L-fucosyltransferase. Belongs to the glycosyltransferase 11 family. Name=Functional Glycomics Gateway - GTase; Note=Fucosyltransferase 1; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_mou_611"; Golgi apparatus carbohydrate metabolic process protein glycosylation galactoside 2-alpha-L-fucosyltransferase activity membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups Golgi cisterna membrane fucosylation uc009gwg.1 uc009gwg.2 uc009gwg.3 
ENSMUST00000008626.10 Rnf151 ENSMUST00000008626.10 ring finger protein 151 (from RefSeq NM_026205.3) ENSMUST00000008626.1 ENSMUST00000008626.2 ENSMUST00000008626.3 ENSMUST00000008626.4 ENSMUST00000008626.5 ENSMUST00000008626.6 ENSMUST00000008626.7 ENSMUST00000008626.8 ENSMUST00000008626.9 NM_026205 Q9CQ29 RN151_MOUSE uc008axw.1 uc008axw.2 uc008axw.3 uc008axw.4 May be involved in acrosome formation of spermatids. Interacts with DTNBP1. Cytoplasm Nucleus Expressed in testis. Expressed in round spermatids of the stages VII-VIII semniniferous tubules. Expressed in elongating spermatids of stages VIII-IX seminiferous tubules (at protein level). nucleus cytoplasm spermatogenesis zinc ion binding cell differentiation metal ion binding uc008axw.1 uc008axw.2 uc008axw.3 uc008axw.4 
ENSMUST00000008684.11 Mgst1 ENSMUST00000008684.11 microsomal glutathione S-transferase 1, transcript variant 1 (from RefSeq NM_019946.5) ENSMUST00000008684.1 ENSMUST00000008684.10 ENSMUST00000008684.2 ENSMUST00000008684.3 ENSMUST00000008684.4 ENSMUST00000008684.5 ENSMUST00000008684.6 ENSMUST00000008684.7 ENSMUST00000008684.8 ENSMUST00000008684.9 MGST1_MOUSE NM_019946 Q91VS7 Q9CQ57 Q9R191 uc009enk.1 uc009enk.2 uc009enk.3 Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Reaction=glutathione + RX = a halide anion + an S-substituted glutathione + H(+); Xref=Rhea:RHEA:16437, ChEBI:CHEBI:15378, ChEBI:CHEBI:16042, ChEBI:CHEBI:17792, ChEBI:CHEBI:57925, ChEBI:CHEBI:90779; EC=2.5.1.18; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16438; Evidence=; Homotrimer; The trimer binds only one molecule of glutathione. Endoplasmic reticulum membrane ; Multi-pass membrane protein Mitochondrion outer membrane Expressed in the testes (at protein level). Acetylation of Lys-42 and Lys-55 is observed in liver mitochondria from fasted mice but not from fed mice. Belongs to the MAPEG family. glutathione transferase activity glutathione peroxidase activity nucleus mitochondrion mitochondrial outer membrane mitochondrial inner membrane peroxisomal membrane endoplasmic reticulum endoplasmic reticulum membrane glutathione metabolic process response to organonitrogen compound membrane integral component of membrane transferase activity response to lipopolysaccharide response to drug identical protein binding protein homodimerization activity intracellular membrane-bounded organelle glutathione binding apical part of cell oxidation-reduction process protein homotrimerization cellular response to lipid hydroperoxide cellular oxidant detoxification prostaglandin biosynthetic process prostaglandin-E synthase activity uc009enk.1 uc009enk.2 uc009enk.3 
ENSMUST00000008734.5 Htr3b ENSMUST00000008734.5 5-hydroxytryptamine (serotonin) receptor 3B (from RefSeq NM_020274.4) 5HT3B_MOUSE ENSMUST00000008734.1 ENSMUST00000008734.2 ENSMUST00000008734.3 ENSMUST00000008734.4 Htr3b NM_020274 Q9JHJ5 uc033jki.1 uc033jki.2 Forms serotonin (5-hydroxytryptamine/5-HT3)-activated cation- selective channel complexes, which when activated cause fast, depolarizing responses in neurons. Reaction=Na(+)(in) = Na(+)(out); Xref=Rhea:RHEA:34963, ChEBI:CHEBI:29101; Evidence=; Reaction=K(+)(in) = K(+)(out); Xref=Rhea:RHEA:29463, ChEBI:CHEBI:29103; Evidence=; Reaction=Ca(2+)(in) = Ca(2+)(out); Xref=Rhea:RHEA:29671, ChEBI:CHEBI:29108; Evidence=; Forms homopentameric as well as heteropentameric serotonin- activated cation-selective channel complexes with HTR3A. The homomeric complex is not functional. Heteropentameric complexes display properties which resemble that of neuronal serotonin-activated channels in vivo. Postsynaptic cell membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein Note=Presumably retained within the endoplasmic reticulum unless complexed with HTR3A. The HA-stretch region of HTR3B seems to confer increased conductance to HTR3A/HTR3B heteromers compared to that of HTR3A homomers. N-glycosylation is required for membrane localization. Belongs to the ligand-gated ion channel (TC 1.A.9) family. 5-hydroxytryptamine receptor (TC 1.A.9.2) subfamily. HTR3B sub- subfamily. transmembrane signaling receptor activity ion channel activity extracellular ligand-gated ion channel activity plasma membrane integral component of plasma membrane ion transport signal transduction serotonin receptor signaling pathway chemical synaptic transmission cell surface ligand-gated ion channel activity membrane integral component of membrane serotonin-gated cation channel activity axon positive regulation of ion transmembrane transporter activity ion transmembrane transport regulation of membrane potential neuron projection neuronal cell body synapse postsynaptic membrane neurological system process serotonin-activated cation-selective channel complex uc033jki.1 uc033jki.2 
ENSMUST00000008745.13 Rab25 ENSMUST00000008745.13 RAB25, member RAS oncogene family (from RefSeq NM_016899.4) ENSMUST00000008745.1 ENSMUST00000008745.10 ENSMUST00000008745.11 ENSMUST00000008745.12 ENSMUST00000008745.2 ENSMUST00000008745.3 ENSMUST00000008745.4 ENSMUST00000008745.5 ENSMUST00000008745.6 ENSMUST00000008745.7 ENSMUST00000008745.8 ENSMUST00000008745.9 NM_016899 Q9D1P3 Q9WTL2 RAB25_MOUSE Rab25 uc008pvn.1 uc008pvn.2 uc008pvn.3 Involved in the regulation of cell survival. Promotes invasive migration of cells in which it functions to localize and maintain integrin alpha-V/beta-1 at the tips of extending pseudopodia. Involved in the regulation of epithelial morphogenesis through the control of CLDN4 expression and localization at tight junctions (PubMed:22696678). May selectively regulate the apical recycling pathway. Together with MYO5B regulates transcytosis (By similarity). Interacts with RAB11FIP1, RAB11FIP2, RAB11FIP3 and RAB11FIP4. Interacts (via the hypervariable C-terminal region) with ITGB1 (via the cytoplasmic region); the interaction is GTP-dependent. Interacts with ITGAV. Associates with the integrin alpha-V/beta-1 heterodimer. Interacts with VPS33B (By similarity). Cell membrane ; Lipid-anchor ; Cytoplasmic side Cell projection, pseudopodium membrane Cytoplasmic vesicle Note=Colocalizes with integrin alpha-V/beta-1 in vesicles at the pseudopodial tips. Belongs to the small GTPase superfamily. Rab family. nucleotide binding epithelial cell morphogenesis GTPase activity protein binding GTP binding endosome plasma membrane intracellular protein transport exocytosis positive regulation of cell proliferation positive regulation of epithelial cell migration protein transport membrane pseudopodium pseudopodium membrane pseudopodium organization cytoplasmic vesicle myosin V binding Rab protein signal transduction cell projection recycling endosome regulation of vesicle-mediated transport uc008pvn.1 uc008pvn.2 uc008pvn.3 
ENSMUST00000008748.8 Ubqln4 ENSMUST00000008748.8 ubiquilin 4, transcript variant 1 (from RefSeq NM_033526.3) Cip75 ENSMUST00000008748.1 ENSMUST00000008748.2 ENSMUST00000008748.3 ENSMUST00000008748.4 ENSMUST00000008748.5 ENSMUST00000008748.6 ENSMUST00000008748.7 NM_033526 Q8BP88 Q99NB8 UBQL4_MOUSE Ubin Ubqln4 uc008pvr.1 uc008pvr.2 uc008pvr.3 Regulator of protein degradation that mediates the proteasomal targeting of misfolded, mislocalized or accumulated proteins (By similarity). Acts by binding polyubiquitin chains of target proteins via its UBA domain and by interacting with subunits of the proteasome via its ubiquitin-like domain (By similarity). Key regulator of DNA repair that represses homologous recombination repair: in response to DNA damage, recruited to sites of DNA damage following phosphorylation by ATM and acts by binding and removing ubiquitinated MRE11 from damaged chromatin, leading to MRE11 degradation by the proteasome (By similarity). MRE11 degradation prevents homologous recombination repair, redirecting double-strand break repair toward non-homologous end joining (NHEJ) (By similarity). Specifically recognizes and binds mislocalized transmembrane-containing proteins and targets them to proteasomal degradation (By similarity). Collaborates with DESI1/POST in the export of ubiquitinated proteins from the nucleus to the cytoplasm (By similarity). Plays a role in the regulation of the proteasomal degradation of non-ubiquitinated GJA1 (PubMed:18079109, PubMed:20940304). Acts as an adapter protein that recruits UBQLN1 to the autophagy machinery (By similarity). Mediates the association of UBQLN1 with autophagosomes and the autophagy-related protein LC3 (MAP1LC3A/B/C) and may assist in the maturation of autophagosomes to autolysosomes by mediating autophagosome-lysosome fusion (By similarity). Homooligomer (By similarity). Binds signal sequences of proteins that are targeted to the endoplasmic reticulum (PubMed:11162551). Interacts (via UBA domain) with GJA1 (not ubiquitinated) and with ubiquitin; both compete for the same binding site (PubMed:18079109, PubMed:20127391, PubMed:20940304). Interacts (via UBA domain) with ubiquitin and with polyubiquitin chains (PubMed:20940304). Interacts (via ubiquitin-like domain) with PSMD2 and PSMD4, regulatory subunits of the 26S proteasome (PubMed:18079109). Interacts with ATXN1/SCA1; interaction with ATXN1 inhibits polyubiquitination of UBQLN4 and interferes with PSMD4 binding (By similarity). Interacts with HERPUD1 (By similarity). Interacts (via ubiquitin-like domain) with UBQLN1 (via UBA domain) (By similarity). Interacts with UBQLN2 (By similarity). Interacts (via STI1 1 and 2 domains) with MAP1LC3A/B/C (By similarity). Interacts with BAG6 (By similarity). Interacts with MRE11 (when ubiquitinated); interaction with ubiquitinated MRE11 leads to MRE11 removal from chromatin (By similarity). Interacts with DESI1/POST; leading to nuclear export (By similarity). Interacts with BCL2A1 and BCL2L10 (By similarity). Nucleus Cytoplasm Chromosome Endoplasmic reticulum toplasm, perinuclear region Cytoplasmic vesicle, autophagosome Note=Colocalizes with the proteasome, both in nucleus and cytoplasm. Exported from the nucleus following interaction with DESI1/POST. In response to DNA damage and phosphorylation at Ser-318 by ATM, localizes to the nucleus and is recruited to sites of DNA damage. Detected in testis, ovary, thyroid, kidney, thymus, heart, liver, lung and spleen (at protein level). Highly expressed in heart, skeletal muscle, kidney, liver and brain. Detected at lower levels in testis, lung and spleen. Phosphorylated by ATM at Ser-313 in response to DNA damage, leading to localization in the nucleus and recruitment to sites of DNA damage. Ubiquitinated; this does not lead to proteasomal degradation. May undergo both 'Lys-48'- and 'Lys-63'-linked polyubiquitination. nucleus chromosome cytoplasm autophagosome endoplasmic reticulum endoplasmic reticulum membrane cytosol DNA repair ubiquitin-dependent protein catabolic process autophagy cellular response to DNA damage stimulus cytoplasmic vesicle polyubiquitin binding nuclear proteasome complex cytosolic proteasome complex regulation of proteasomal ubiquitin-dependent protein catabolic process identical protein binding perinuclear region of cytoplasm negative regulation of autophagosome maturation negative regulation of double-strand break repair via homologous recombination uc008pvr.1 uc008pvr.2 uc008pvr.3 
ENSMUST00000008812.9 Rps18 ENSMUST00000008812.9 ribosomal protein S18 (from RefSeq NM_011296.3) ENSMUST00000008812.1 ENSMUST00000008812.2 ENSMUST00000008812.3 ENSMUST00000008812.4 ENSMUST00000008812.5 ENSMUST00000008812.6 ENSMUST00000008812.7 ENSMUST00000008812.8 NM_011296 Q561N5 Q561N5_MOUSE Rps18 uc008cal.1 uc008cal.2 uc008cal.3 Component of the small ribosomal subunit. Cytoplasm Belongs to the universal ribosomal protein uS13 family. nucleic acid binding RNA binding structural constituent of ribosome ribosome translation uc008cal.1 uc008cal.2 uc008cal.3 
ENSMUST00000008826.14 Rpl10 ENSMUST00000008826.14 ribosomal protein L10 (from RefSeq NM_052835.4) ENSMUST00000008826.1 ENSMUST00000008826.10 ENSMUST00000008826.11 ENSMUST00000008826.12 ENSMUST00000008826.13 ENSMUST00000008826.2 ENSMUST00000008826.3 ENSMUST00000008826.4 ENSMUST00000008826.5 ENSMUST00000008826.6 ENSMUST00000008826.7 ENSMUST00000008826.8 ENSMUST00000008826.9 NM_052835 P45634 Q569M8 Q5M9K8 Q6ZWV3 Qm RL10_MOUSE Rpl10 uc009toc.1 uc009toc.2 uc009toc.3 uc009toc.4 Component of the large ribosomal subunit. Plays a role in the formation of actively translating ribosomes (PubMed:36517592). May play a role in the embryonic brain development (By similarity). Component of the large ribosomal subunit (PubMed:36517592). Mature ribosomes consist of a small (40S) and a large (60S) subunit (PubMed:36517592). The 40S subunit contains about 33 different proteins and 1 molecule of RNA (18S) (PubMed:36517592). The 60S subunit contains about 49 different proteins and 3 molecules of RNA (28S, 5.8S and 5S) (PubMed:36517592). Cytoplasm Citrullinated by PADI4. Ufmylated by UFL1. Belongs to the universal ribosomal protein uL16 family. ribosomal large subunit assembly negative regulation of transcription from RNA polymerase II promoter structural constituent of ribosome nucleus cytoplasm endoplasmic reticulum cytosol ribosome translation regulation of translation multicellular organism development cytosolic large ribosomal subunit macromolecular complex negative regulation of apoptotic process translation regulator activity synapse liver regeneration embryonic brain development smooth endoplasmic reticulum uc009toc.1 uc009toc.2 uc009toc.3 uc009toc.4 
ENSMUST00000008830.10 Zfp955a ENSMUST00000008830.10 zinc finger protein 955A (from RefSeq NM_029952.3) D3Z5K4 ENSMUST00000008830.1 ENSMUST00000008830.2 ENSMUST00000008830.3 ENSMUST00000008830.4 ENSMUST00000008830.5 ENSMUST00000008830.6 ENSMUST00000008830.7 ENSMUST00000008830.8 ENSMUST00000008830.9 NM_029952 Q80XR7 Q80XR7_MOUSE Zfp422-rs1 Zfp955a Zfp955b uc008byf.1 uc008byf.2 uc008byf.3 uc008byf.4 nucleic acid binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated sequence-specific DNA binding metal ion binding uc008byf.1 uc008byf.2 uc008byf.3 uc008byf.4 
ENSMUST00000008878.10 Gprc5b ENSMUST00000008878.10 G protein-coupled receptor, family C, group 5, member B, transcript variant 2 (from RefSeq NM_022420.2) ENSMUST00000008878.1 ENSMUST00000008878.2 ENSMUST00000008878.3 ENSMUST00000008878.4 ENSMUST00000008878.5 ENSMUST00000008878.6 ENSMUST00000008878.7 ENSMUST00000008878.8 ENSMUST00000008878.9 GPC5B_MOUSE NM_022420 Q8CCV3 Q923Z0 Raig2 uc009jkx.1 uc009jkx.2 uc009jkx.3 uc009jkx.4 Unknown. This retinoic acid-inducible G-protein coupled receptor provide evidence for a possible interaction between retinoid and G-protein signaling pathways (By similarity). Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 3 family. positive regulation of protein phosphorylation G-protein coupled receptor activity nucleus nucleolus cytosol plasma membrane signal transduction G-protein coupled receptor signaling pathway locomotory behavior cell surface positive regulation of neuron projection development membrane integral component of membrane protein kinase binding protein kinase activator activity activation of protein kinase activity glucose homeostasis positive regulation of I-kappaB kinase/NF-kappaB signaling intracellular membrane-bounded organelle receptor complex membrane raft positive regulation of neuron differentiation positive regulation of protein kinase activity positive regulation of inflammatory response positive regulation of macrophage cytokine production positive regulation of protein tyrosine kinase activity extracellular exosome positive regulation of canonical Wnt signaling pathway uc009jkx.1 uc009jkx.2 uc009jkx.3 uc009jkx.4 
ENSMUST00000008893.9 Coro1b ENSMUST00000008893.9 coronin, actin binding protein 1B, transcript variant 1 (from RefSeq NM_011778.3) COR1B_MOUSE ENSMUST00000008893.1 ENSMUST00000008893.2 ENSMUST00000008893.3 ENSMUST00000008893.4 ENSMUST00000008893.5 ENSMUST00000008893.6 ENSMUST00000008893.7 ENSMUST00000008893.8 NM_011778 Q3UEB1 Q9CVA2 Q9WUM3 uc008fyy.1 uc008fyy.2 uc008fyy.3 Regulates leading edge dynamics and cell motility in fibroblasts. May be involved in cytokinesis and signal transduction (By similarity). Forms homooligomers, but does not form complexes with the other coronins. Interacts with Arp2/3 complex components, including ACTR2, ARPC1B and ARPC2. Binds actin (By similarity). Cytoplasm, cytoskeleton Cytoplasm, cytoskeleton, stress fiber Note=Localized to the leading edge in fibroblasts, as well as weakly along actin stress fibers. Ubiquitous. Phosphorylation on Ser-2 regulates the interaction with the Arp2/3 complex and cell motility in fibroblasts. Phosphorylation does not seem to affect subcellular location (By similarity). Belongs to the WD repeat coronin family. stress fiber actin binding protein binding cytoplasm cytosol cytoskeleton actin filament plasma membrane actin filament organization cytoskeletal protein binding cell migration lamellipodium actin cytoskeleton organization cell leading edge ruffle organization negative regulation of Arp2/3 complex-mediated actin nucleation endothelial cell chemotaxis cellular response to platelet-derived growth factor stimulus wound healing identical protein binding macromolecular complex binding perinuclear region of cytoplasm actin filament binding actin filament bundle assembly protein kinase C signaling negative regulation of smooth muscle cell chemotaxis Arp2/3 complex binding cell periphery actin filament branching protein localization to cell leading edge negative regulation of lamellipodium morphogenesis positive regulation of lamellipodium morphogenesis uc008fyy.1 uc008fyy.2 uc008fyy.3 
ENSMUST00000008907.14 Man1a2 ENSMUST00000008907.14 mannosidase, alpha, class 1A, member 2 (from RefSeq NM_010763.2) ENSMUST00000008907.1 ENSMUST00000008907.10 ENSMUST00000008907.11 ENSMUST00000008907.12 ENSMUST00000008907.13 ENSMUST00000008907.2 ENSMUST00000008907.3 ENSMUST00000008907.4 ENSMUST00000008907.5 ENSMUST00000008907.6 ENSMUST00000008907.7 ENSMUST00000008907.8 ENSMUST00000008907.9 MA1A2_MOUSE Man1b NM_010763 P39098 Q5SUY6 Q5SUY7 Q60599 Q9CUY9 uc008qqw.1 uc008qqw.2 uc008qqw.3 uc008qqw.4 uc008qqw.5 uc008qqw.6 Involved in the maturation of Asn-linked oligosaccharides. Progressively trim alpha-1,2-linked mannose residues from Man(9)GlcNAc(2) to produce Man(5)GlcNAc(2). Reaction=4 H2O + N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D- Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man- (1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)- beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 9A1,2,3B1,2,3) = 4 beta-D-mannose + N(4)-(alpha-D-Man- (1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]- beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl- [protein] (N-glucan mannose isomer 5A1,2); Xref=Rhea:RHEA:56008, Rhea:RHEA-COMP:14356, Rhea:RHEA-COMP:14367, ChEBI:CHEBI:15377, ChEBI:CHEBI:28563, ChEBI:CHEBI:59087, ChEBI:CHEBI:139493; EC=3.2.1.113; Evidence=; Reaction=3 H2O + N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D- Man-(1->3)-[alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man- (1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)- beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 8A1,2,3B1,3) = 3 beta-D-mannose + N(4)-(alpha-D-Man-(1->3)-[alpha-D- Man-(1->3)-[alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man- (1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 5A1,2); Xref=Rhea:RHEA:56028, Rhea:RHEA- COMP:14358, Rhea:RHEA-COMP:14367, ChEBI:CHEBI:15377, ChEBI:CHEBI:28563, ChEBI:CHEBI:59087, ChEBI:CHEBI:60628; EC=3.2.1.113; Evidence=; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Inhibited by both 1-deoxymannojirimycin and kifunensine. Protein modification; protein glycosylation. Golgi apparatus membrane; Single-pass type II membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P39098-1; Sequence=Displayed; Name=2; IsoId=P39098-2; Sequence=VSP_018615; Belongs to the glycosyl hydrolase 47 family. Golgi membrane catalytic activity mannosyl-oligosaccharide 1,2-alpha-mannosidase activity calcium ion binding endoplasmic reticulum Golgi apparatus protein glycosylation N-glycan processing respiratory gaseous exchange metabolic process glycoprotein metabolic process membrane integral component of membrane hydrolase activity hydrolase activity, acting on glycosyl bonds metal ion binding lung alveolus development uc008qqw.1 uc008qqw.2 uc008qqw.3 uc008qqw.4 uc008qqw.5 uc008qqw.6 
ENSMUST00000008957.13 Tppp2 ENSMUST00000008957.13 Probable regulator of microtubule dynamics required for sperm motility (Probable). In contrast to other members of the family, has no microtubule bundling activity (By similarity). (from UniProt Q0P5Y3) BC049709 ENSMUST00000008957.1 ENSMUST00000008957.10 ENSMUST00000008957.11 ENSMUST00000008957.12 ENSMUST00000008957.2 ENSMUST00000008957.3 ENSMUST00000008957.4 ENSMUST00000008957.5 ENSMUST00000008957.6 ENSMUST00000008957.7 ENSMUST00000008957.8 ENSMUST00000008957.9 Gm77 Q0P5Y3 TPPP2_MOUSE Tppp2 uc007tnm.1 uc007tnm.2 Probable regulator of microtubule dynamics required for sperm motility (Probable). In contrast to other members of the family, has no microtubule bundling activity (By similarity). Cytoplasm, cytosol Cell projection, cilium, flagellum Note=Present in the middle piece of sperm tail. Only expressed in male reproductive organs, including testis (PubMed:30680919). Expressed in elongating spermatids at stages IV-VIII of the seminiferous epithelial cycle in testis and in mature sperm in the epididymis (PubMed:30680919). Male subfertility with a significantly decreased sperm count and motility (PubMed:30680919). Sperm shows increased irregular mitochondria lacking lamellar cristae, abnormal expression of electron transfer chain molecules, lower ATP levels, decreased mitochondrial membrane potential and increased apoptotic index (PubMed:30680919). Belongs to the TPPP family. microtubule bundle formation cytoplasm cytosol tubulin binding positive regulation of protein polymerization microtubule polymerization microtubule uc007tnm.1 uc007tnm.2 
ENSMUST00000008966.13 Acyp1 ENSMUST00000008966.13 acylphosphatase 1, transcript variant 3 (from RefSeq NM_025421.3) ACYP1_MOUSE Acype ENSMUST00000008966.1 ENSMUST00000008966.10 ENSMUST00000008966.11 ENSMUST00000008966.12 ENSMUST00000008966.2 ENSMUST00000008966.3 ENSMUST00000008966.4 ENSMUST00000008966.5 ENSMUST00000008966.6 ENSMUST00000008966.7 ENSMUST00000008966.8 ENSMUST00000008966.9 NM_025421 P56376 Q0VG40 Q545K8 Q6P8S7 uc007ogu.1 uc007ogu.2 uc007ogu.3 Reaction=an acyl phosphate + H2O = a carboxylate + H(+) + phosphate; Xref=Rhea:RHEA:14965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29067, ChEBI:CHEBI:43474, ChEBI:CHEBI:59918; EC=3.6.1.7; Evidence=; Belongs to the acylphosphatase family. acylphosphatase activity biological_process hydrolase activity uc007ogu.1 uc007ogu.2 uc007ogu.3 
ENSMUST00000008987.5 Cldn13 ENSMUST00000008987.5 claudin 13 (from RefSeq NM_020504.4) CLD13_MOUSE ENSMUST00000008987.1 ENSMUST00000008987.2 ENSMUST00000008987.3 ENSMUST00000008987.4 NM_020504 Q9Z0S4 uc008zwy.1 uc008zwy.2 uc008zwy.3 uc008zwy.4 This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is a developmentally expressed renal tight junction protein. This gene is expressed in the cecum, colon, liver and kidney of mice, but is not identified in rat tissues. Humans and chimpanzees lack this gene. [provided by RefSeq, Aug 2010]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF516681.2, BY710282.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164135, SAMN01164140 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Cell junction, tight junction. Cell membrane; Multi-pass membrane protein. Belongs to the claudin family. structural molecule activity plasma membrane bicellular tight junction membrane integral component of membrane lateral plasma membrane cell junction uc008zwy.1 uc008zwy.2 uc008zwy.3 uc008zwy.4 
ENSMUST00000008991.8 Sptbn2 ENSMUST00000008991.8 spectrin beta, non-erythrocytic 2 (from RefSeq NM_021287.2) ENSMUST00000008991.1 ENSMUST00000008991.2 ENSMUST00000008991.3 ENSMUST00000008991.4 ENSMUST00000008991.5 ENSMUST00000008991.6 ENSMUST00000008991.7 NM_021287 Q68FG2 Q68FG2_MOUSE Spnb3 Sptbn2 uc008gan.1 uc008gan.2 uc008gan.3 uc008gan.4 Belongs to the spectrin family. Golgi membrane photoreceptor inner segment actin binding structural constituent of cytoskeleton phospholipid binding cytoplasm endosome cytosol cytoskeleton plasma membrane cytoskeleton organization synapse assembly synaptic vesicle spectrin synaptic vesicle exocytosis vesicle-mediated transport apical plasma membrane cerebellar Purkinje cell layer morphogenesis cell junction adult behavior multicellular organism growth neuronal cell body perinuclear region of cytoplasm actin filament capping presynapse structural constituent of synapse glutamatergic synapse uc008gan.1 uc008gan.2 uc008gan.3 uc008gan.4 
ENSMUST00000009003.9 Rala ENSMUST00000009003.9 v-ral simian leukemia viral oncogene A (ras related) (from RefSeq NM_019491.5) ENSMUST00000009003.1 ENSMUST00000009003.2 ENSMUST00000009003.3 ENSMUST00000009003.4 ENSMUST00000009003.5 ENSMUST00000009003.6 ENSMUST00000009003.7 ENSMUST00000009003.8 NM_019491 P05810 P63321 RALA_MOUSE Ral Ral-a uc007pof.1 uc007pof.2 uc007pof.3 Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking. Accomplishes its multiple functions by interacting with distinct downstream effectors. Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles. Key regulator of LPAR1 signaling and competes with GRK2 for binding to LPAR1 thus affecting the signaling properties of the receptor. Required for anchorage-independent proliferation of transformed cells (By similarity). The RALA-exocyst complex regulates integrin-dependent membrane raft exocytosis and growth signaling (PubMed:20005108). During mitosis, supports the stabilization and elongation of the intracellular bridge between dividing cells. Cooperates with EXOC2 to recruit other components of the exocyst to the early midbody (By similarity). During mitosis, also controls mitochondrial fission by recruiting to the mitochondrion RALBP1, which mediates the phosphorylation and activation of DNM1L by the mitotic kinase cyclin B-CDK1 (By similarity). Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.2; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19670; Evidence=; Alternates between an inactive form bound to GDP and an active form bound to GTP. Activated by a guanine nucleotide- exchange factor (GEF) and inactivated by a GTPase-activating protein (GAP). Interacts (via effector domain) with RALBP1; during mitosis, recruits RALBP1 to the mitochondrion where it promotes DNM1L phosphorylation and mitochondrial fission (By similarity). Interacts with EXOC2/Sec5 and EXOC8/Exo84; binding to EXOC2 and EXOC8 is mutually exclusive. Interacts with Clostridium exoenzyme C3. Interacts with RALGPS1. Interacts with LPAR1 and LPAR2. Interacts with GRK2 in response to LPAR1 activation. RALA and GRK2 binding to LPAR1 is mutually exclusive (By similarity). Interacts with CDC42 (By similarity). Cell membrane ; Lipid-anchor ; Cytoplasmic side Cleavage furrow Midbody, Midbody ring Mitochondrion Note=Predominantly at the cell surface in the absence of LPA. In the presence of LPA, colocalizes with LPAR1 and LPAR2 in endocytic vesicles. May colocalize with CNTRL/centriolin at the midbody ring. However, localization at the midbody at late cytokinesis was not confirmed. Relocalizes to the mitochondrion during mitosis where it regulates mitochondrial fission. Prenylation is essential for membrane localization. Phosphorylated. Phosphorylation at Ser-194 by AURKA/Aurora kinase A, during mitosis, induces RALA localization to the mitochondrion where it regulates mitochondrial fission. Belongs to the small GTPase superfamily. Ras family. nucleotide binding neural tube closure GTPase activity protein binding GTP binding plasma membrane exocytosis cell cycle signal transduction Ras protein signal transduction cell surface membrane myosin binding regulation of exocytosis GDP binding endocytic vesicle cytoplasmic vesicle membrane actin cytoskeleton reorganization ubiquitin protein ligase binding Edg-2 lysophosphatidic acid receptor binding cleavage furrow myelin sheath ATPase binding cell division positive regulation of filopodium assembly membrane raft localization Flemming body uc007pof.1 uc007pof.2 uc007pof.3 
ENSMUST00000009018.4 Clec3a ENSMUST00000009018.4 C-type lectin domain family 3, member a (from RefSeq NM_001007223.4) CLC3A_MOUSE Clecsf1 ENSMUST00000009018.1 ENSMUST00000009018.2 ENSMUST00000009018.3 Gm796 NM_001007223 Q9EPW4 uc009nob.1 uc009nob.2 uc009nob.3 uc009nob.4 Promotes cell adhesion to laminin and fibronectin. Secreted ossification extracellular region extracellular space carbohydrate binding uc009nob.1 uc009nob.2 uc009nob.3 uc009nob.4 
ENSMUST00000009036.11 Vdac3 ENSMUST00000009036.11 voltage-dependent anion channel 3, transcript variant 2 (from RefSeq NM_011696.2) ENSMUST00000009036.1 ENSMUST00000009036.10 ENSMUST00000009036.2 ENSMUST00000009036.3 ENSMUST00000009036.4 ENSMUST00000009036.5 ENSMUST00000009036.6 ENSMUST00000009036.7 ENSMUST00000009036.8 ENSMUST00000009036.9 NM_011696 Q60931 Q8BNG2 VDAC3_MOUSE uc009ldh.1 uc009ldh.2 uc009ldh.3 uc009ldh.4 Forms a channel through the mitochondrial outer membrane that allows diffusion of small hydrophilic molecules (By similarity). Involved in male fertility and sperm mitochondrial sheath formation (PubMed:35228556). Interacts with ARMC12 in a TBC1D21-dependent manner. Interacts with MISFA (PubMed:35228556). Mitochondrion outer membrane Membrane Note=May localize to non-mitochondrial membranes. Highest levels of expression detected in testis, less but still abundant expression in heart, kidney, brain, and skeletal muscle. Consists mainly of a membrane-spanning beta-barrel formed by 19 beta-strands. Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30. Male Vdac3-deficient mice are infertile as a result of reduced sperm mobility due to an abnormal mitochondrial sheat in spermatozoa. Belongs to the eukaryotic mitochondrial porin family. nucleotide binding behavioral fear response mitochondrion mitochondrial outer membrane mitochondrial inner membrane rough endoplasmic reticulum ion transport chemical synaptic transmission neuron-neuron synaptic transmission learning synaptic vesicle voltage-gated anion channel activity porin activity membrane integral component of membrane pore complex transmembrane transport anion transmembrane transport regulation of cilium assembly uc009ldh.1 uc009ldh.2 uc009ldh.3 uc009ldh.4 
ENSMUST00000009058.10 Abcb1b ENSMUST00000009058.10 ATP-binding cassette, sub-family B member 1B (from RefSeq NM_011075.2) Abcb1 Abcb1b ENSMUST00000009058.1 ENSMUST00000009058.2 ENSMUST00000009058.3 ENSMUST00000009058.4 ENSMUST00000009058.5 ENSMUST00000009058.6 ENSMUST00000009058.7 ENSMUST00000009058.8 ENSMUST00000009058.9 MDR1B_MOUSE Mdr1 Mdr1b NM_011075 P06795 Pgy1 Pgy1-1 uc008wkp.1 uc008wkp.2 uc008wkp.3 uc008wkp.4 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. This gene encodes a membrane glycoprotein which confers a multidrug-resistance phenotype. The protein encoded by the human gene is an ATP-dependent drug efflux pump for xenobiotic compounds which is responsible for decreased drug accumulation in multidrug-resistant cells and mediates the development of resistance to anticancer drugs. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC141363.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849379, SAMN00849381 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Translocates drugs and phospholipids across the membrane. Catalyzes the flop of phospholipids from the cytoplasmic to the exoplasmic leaflet of the apical membrane. Participates mainly to the flop of phosphatidylcholine, phosphatidylethanolamine, beta-D- glucosylceramides and sphingomyelins. Energy-dependent efflux pump responsible for decreased drug accumulation in multidrug-resistant cells. Reaction=ATP + H2O + xenobioticSide 1 = ADP + phosphate + xenobioticSide 2.; EC=7.6.2.2; Evidence=; Reaction=ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.; EC=7.6.2.1; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:36439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:64612, ChEBI:CHEBI:456216; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphocholine(in) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:38583, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57643, ChEBI:CHEBI:456216; Evidence=; Reaction=a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine(in) + ATP + H2O = a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:38943, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:22801, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence=; Reaction=a sphingomyelin(in) + ATP + H2O = a sphingomyelin(out) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:38903, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17636, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence=; Translocase activity is inhibited by verapamil and is sensitive to energy depletion. C1orf115 regulates drug efflux through modulation of ABCB1 localization and activity. Interacts with PSMB5. Cell membrane ; Multi-pass membrane protein Apical cell membrane Cytoplasm Note=ABCB1 localization is influenced by C1orf115 expression levels (plasma membrane versus cytoplasm). Several phosphorylated serine residues are present in the linker domain. In mouse the MDR gene family includes three or more related but distinct cellular genes. Belongs to the ABC transporter superfamily. ABCB family. Multidrug resistance exporter (TC 3.A.1.201) subfamily. Golgi membrane nucleotide binding ATP binding mitochondrion plasma membrane lipid transport xenobiotic-transporting ATPase activity establishment of endothelial blood-brain barrier phospholipid transport membrane integral component of membrane apical plasma membrane ATPase activity response to drug ATPase activity, coupled to transmembrane movement of substances intercellular canaliculus transmembrane transport phosphatidylcholine-translocating ATPase activity phosphatidylethanolamine-translocating ATPase activity ceramide-translocating ATPase activity ceramide translocation uc008wkp.1 uc008wkp.2 uc008wkp.3 uc008wkp.4 
ENSMUST00000009102.9 Vps72 ENSMUST00000009102.9 vacuolar protein sorting 72 (from RefSeq NM_009336.2) ENSMUST00000009102.1 ENSMUST00000009102.2 ENSMUST00000009102.3 ENSMUST00000009102.4 ENSMUST00000009102.5 ENSMUST00000009102.6 ENSMUST00000009102.7 ENSMUST00000009102.8 NM_009336 Q3U2N4 Q62481 Q810A9 Q99K81 Tcfl1 VPS72_MOUSE Yl1 uc008qia.1 uc008qia.2 uc008qia.3 Deposition-and-exchange histone chaperone specific for H2AZ1, specifically chaperones H2AZ1 and deposits it into nucleosomes. As component of the SRCAP complex, mediates the ATP-dependent exchange of histone H2AZ1/H2B dimers for nucleosomal H2A/H2B, leading to transcriptional regulation of selected genes by chromatin remodeling. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41 and VPS72/YL1. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. Also part of a multiprotein complex which contains SRCAP and which binds to H2AZ1/H2AZ. Interacts (via N-terminal domain) with H2AZ1; the interaction is enhanced by VPS72 phosphorylation which is promoted by ZNHIT1 (PubMed:30842416). Nucleus In all tissues examined, most abundantly in brain and thymus. Phosphorylation is enhanced by ZNHIT1 and promotes the interaction of VPS72 with histone H2AZ1. Belongs to the VPS72/YL1 family. DNA binding nucleus chromatin organization chromatin remodeling regulation of transcription, DNA-templated nuclear speck macromolecular complex somatic stem cell population maintenance histone binding histone exchange uc008qia.1 uc008qia.2 uc008qia.3 
ENSMUST00000009120.8 Gabpa ENSMUST00000009120.8 GA repeat binding protein, alpha, transcript variant 1 (from RefSeq NM_008065.3) E4tf1a ENSMUST00000009120.1 ENSMUST00000009120.2 ENSMUST00000009120.3 ENSMUST00000009120.4 ENSMUST00000009120.5 ENSMUST00000009120.6 ENSMUST00000009120.7 GABPA_MOUSE NM_008065 Q00422 Q7TT22 uc007ztl.1 uc007ztl.2 uc007ztl.3 Transcription factor capable of interacting with purine rich repeats (GA repeats). Positively regulates transcription of transcriptional repressor Rhit/Zpf13. Heterotetramer of two alpha and two beta subunits. Nucleus. Ubiquitous. Belongs to the ETS family. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding in utero embryonic development blastocyst formation DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter positive regulation of gene expression cell differentiation activating transcription factor binding sequence-specific DNA binding transcription regulatory region DNA binding negative regulation of megakaryocyte differentiation positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity cellular response to dopamine uc007ztl.1 uc007ztl.2 uc007ztl.3 
ENSMUST00000009143.8 Bmp7 ENSMUST00000009143.8 bone morphogenetic protein 7 (from RefSeq NM_007557.3) BMP7_MOUSE Bmp-7 ENSMUST00000009143.1 ENSMUST00000009143.2 ENSMUST00000009143.3 ENSMUST00000009143.4 ENSMUST00000009143.5 ENSMUST00000009143.6 ENSMUST00000009143.7 NM_007557 Op1 P23359 Q91XF7 uc008odb.1 uc008odb.2 uc008odb.3 uc008odb.4 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. Mutation of this gene results in skeletal, kidney, and other developmental defects. [provided by RefSeq, Jul 2016]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC010771.1, SRR1660817.185109.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN01164131 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Growth factor of the TGF-beta superfamily that plays important role in various biological processes, including embryogenesis, hematopoiesis, neurogenesis and skeletal morphogenesis (PubMed:9013703, PubMed:22461901). Initiates the canonical BMP signaling cascade by associating with type I receptor ACVR1 and type II receptor ACVR2A. Once all three components are bound together in a complex at the cell surface, ACVR2A phosphorylates and activates ACVR1. In turn, ACVR1 propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. For specific functions such as growth cone collapse in developing spinal neurons and chemotaxis of monocytes, uses also BMPR2 as type II receptor. Can also signal through non- canonical pathways such as P38 MAP kinase signaling cascade that promotes brown adipocyte differentiation through activation of target genes, including members of the SOX family of transcription factors (By similarity). Promotes the expression of HAMP, this is repressed by its interaction with ERFE (PubMed:30097509). Homodimer; disulfide-linked (By similarity). Interacts with SOSTDC1 (PubMed:14623234). Interacts with TWSG1 (PubMed:15843411). Interacts with FBN1 (via N-terminal domain) and FBN2 (By similarity). Interacts with type I receptor ACVR1 (By similarity). Interacts with type II receptor ACVR2A (By similarity). Interacts with NOG; this interaction inhibits canonical BMP signaling (By similarity). Interacts with SCUBE3 (By similarity). Interacts with ERFE; the interaction inhibits BMP-induced transcription of HAMP (PubMed:30097509). Secreted nullDeltion mutant mice die shortly after birth and display developmental defects in kidney, eye, skull, ribcage, and hind limbs. They also show defects in the development of the axial skeleton from the skull to the tail and the ossification of bones. Belongs to the TGF-beta family. ossification eye development metanephros development ureteric bud development mesoderm formation kidney development mesonephros development endocardial cushion formation pericardium morphogenesis cytokine activity transforming growth factor beta receptor binding protein binding extracellular region extracellular space multicellular organism development pattern specification process axon guidance salivary gland morphogenesis growth factor activity heparin binding negative regulation of cell proliferation embryonic pattern specification animal organ morphogenesis positive regulation of gene expression positive regulation of epithelial to mesenchymal transition positive regulation of peptidyl-threonine phosphorylation positive regulation of pathway-restricted SMAD protein phosphorylation positive regulation of cell death neural fold elevation formation cell differentiation embryonic limb morphogenesis positive regulation of bone mineralization BMP signaling pathway epithelial cell differentiation hindbrain development vesicle response to estradiol response to vitamin D positive regulation of heterotypic cell-cell adhesion protein localization to nucleus tube morphogenesis regulation of phosphorylation negative regulation of phosphorylation odontogenesis of dentin-containing tooth regulation of apoptotic process positive regulation of apoptotic process steroid hormone mediated signaling pathway negative regulation of MAP kinase activity regulation of MAPK cascade response to peptide hormone positive regulation of cell differentiation negative regulation of neuron differentiation positive regulation of neuron differentiation positive regulation of osteoblast differentiation negative regulation of Notch signaling pathway negative regulation of cell cycle negative regulation of mitotic nuclear division negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter cell development camera-type eye morphogenesis embryonic camera-type eye morphogenesis anatomical structure formation involved in morphogenesis cardiac muscle tissue development branching morphogenesis of an epithelial tube mesenchymal cell differentiation neuron projection morphogenesis negative regulation of neurogenesis cartilage development pharyngeal system development embryonic skeletal joint morphogenesis regulation of pathway-restricted SMAD protein phosphorylation SMAD protein signal transduction cardiac septum morphogenesis branching involved in salivary gland morphogenesis mesenchyme development negative regulation of cell death negative regulation of prostatic bud formation regulation of branching involved in prostate gland morphogenesis chorio-allantoic fusion heart trabecula morphogenesis monocyte aggregation BMP receptor binding cellular response to BMP stimulus negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis negative regulation of glomerular mesangial cell proliferation metanephric mesenchyme morphogenesis nephrogenic mesenchyme morphogenesis metanephric mesenchymal cell proliferation involved in metanephros development positive regulation of dendrite development positive regulation of hyaluranon cable assembly allantois development positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis uc008odb.1 uc008odb.2 uc008odb.3 uc008odb.4 
ENSMUST00000009157.4 Dynll1 ENSMUST00000009157.4 dynein light chain LC8-type 1 (from RefSeq NM_019682.5) DYL1_MOUSE Dlc1 Dncl1 Dnclc1 ENSMUST00000009157.1 ENSMUST00000009157.2 ENSMUST00000009157.3 NM_019682 P63168 Q15701 Q3UGE7 uc008zdp.1 uc008zdp.2 uc008zdp.3 uc008zdp.4 Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in changing or maintaining the spatial distribution of cytoskeletal structures (By similarity). Promotes transactivation functions of ESR1 and plays a role in the nuclear localization of ESR1. Regulates apoptotic activities of BCL2L11 by sequestering it to microtubules. Upon apoptotic stimuli the BCL2L11-DYNLL1 complex dissociates from cytoplasmic dynein and translocates to mitochondria and sequesters BCL2 thus neutralizing its antiapoptotic activity (By similarity). Binds and inhibits the catalytic activity of neuronal nitric oxide synthase/NOS1. Homodimer. Monomer; the monomeric form is incapable of binding to target proteins. The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non- catalytic subunits. The ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC dimer. Interacts with TXNDC17. Interacts with WWC1 and ESR1. The interaction with WWC1 is mandatory for the recruitment and transactivation functions of ESR1 or DYNLL1 to the target chromatin. Interacts with BCL2; the interaction is greatly enhanced in the nucleus and in mitochondria upon induction of apoptosis. Interacts with PAK1; the interaction requires dimeric DYNLL1. Interacts with MYZAP. Part of an astrin (SPAG5)-kinastrin (SKAP) complex containing KNSTRN, SPAG5, PLK1, DYNLL1 and SGO2. Interacts with ATMIN; this interaction inhibits ATMIN transcriptional activity and hence may play a role in a feedback loop whereby DYNLL1 inhibits transactivation of its own promoter by ATMIN. Interacts with NEK9 (not phosphorylated at 'Ser-944') (By similarity). Interacts with BCL2L11 (PubMed:21478148). Interacts with BICD2 (PubMed:22956769). Interacts with BCAS1 (By similarity). Interacts with Bassoon/BSN (By similarity). Interacts with HDAC6 (By similarity). Interacts with TPPP (By similarity). Interacts with AMBRA1 (via TQT motifs); tethering AMBRA1 to the cytoskeleton (By similarity). Interacts with FAM83D/CHICA (via C-terminus) (By similarity). Interacts with HMMR, SPAG5/Astrin and KNSTRN/Kinastrin (By similarity). Interacts with TLK2 (By similarity). Interacts with NOS1 (By similarity). Interacts with WWC1, WWC2 and WWC3 (By similarity). P63168; Q64368: Dazl; NbExp=12; IntAct=EBI-349121, EBI-2024439; P63168; O88485: Dync1i1; NbExp=2; IntAct=EBI-349121, EBI-492834; P63168; P26367: PAX6; Xeno; NbExp=3; IntAct=EBI-349121, EBI-747278; Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton Nucleus Mitochondrion Note=Upon induction of apoptosis translocates together with BCL2L11 to mitochondria. Phosphorylation at Ser-88 appears to control the dimer-monomer transition. Belongs to the dynein light chain family. kinetochore motor activity enzyme inhibitor activity protein binding nucleus cytoplasm mitochondrion centrosome cytosol cytoskeleton cytoplasmic dynein complex microtubule microtubule associated complex cilium apoptotic process microtubule-based process spermatid development protein C-terminus binding COP9 signalosome membrane enzyme binding protein domain specific binding secretory granule nitric-oxide synthase regulator activity dynein complex intraciliary retrograde transport positive regulation of insulin secretion involved in cellular response to glucose stimulus negative regulation of phosphorylation protein homodimerization activity negative regulation of catalytic activity motile cilium assembly negative regulation of nitric oxide biosynthetic process dynein intermediate chain binding protein heterodimerization activity dynein light intermediate chain binding mitotic spindle scaffold protein binding positive regulation of non-motile cilium assembly axon cytoplasm positive regulation of ATP-dependent microtubule motor activity, plus-end-directed ATP-dependent microtubule motor activity, plus-end-directed uc008zdp.1 uc008zdp.2 uc008zdp.3 uc008zdp.4 
ENSMUST00000009174.15 Pdcl ENSMUST00000009174.15 phosducin-like (from RefSeq NM_026176.3) ENSMUST00000009174.1 ENSMUST00000009174.10 ENSMUST00000009174.11 ENSMUST00000009174.12 ENSMUST00000009174.13 ENSMUST00000009174.14 ENSMUST00000009174.2 ENSMUST00000009174.3 ENSMUST00000009174.4 ENSMUST00000009174.5 ENSMUST00000009174.6 ENSMUST00000009174.7 ENSMUST00000009174.8 ENSMUST00000009174.9 NM_026176 PHLP_MOUSE PhLP1 Q3TKI0 Q9DBX2 uc008jmp.1 uc008jmp.2 uc008jmp.3 Functions as a co-chaperone for CCT in the assembly of heterotrimeric G protein complexes, facilitates the assembly of both Gbeta-Ggamma and RGS-Gbeta5 heterodimers (PubMed:23637185). Acts also as a positive regulator of hedgehog signaling and regulates ciliary function (PubMed:29290584). Forms a complex with the beta and gamma subunits of the GTP- binding protein, transducin. Interacts with the CCT chaperonin complex (By similarity). Cell projection, cilium Conditional deletion in photoreceptor cells leads to 50-fold decrease in Gbeta-Ggamma dimer formation and more than 10- fold decrease in light sensitivity. A 20-fold reduction in Gbeta5 and RGS9-1 expression is also observed, causing a 15-fold delay in the shutoff of light responses. Belongs to the phosducin family. cytoplasm cilium protein folding visual perception cell projection organization cell projection macromolecular complex binding positive regulation of smoothened signaling pathway response to stimulus negative regulation of protein refolding heterotrimeric G-protein complex assembly uc008jmp.1 uc008jmp.2 uc008jmp.3 
ENSMUST00000009214.10 Rsph14 ENSMUST00000009214.10 Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia. (from UniProt Q9D3W1) AK017008 ENSMUST00000009214.1 ENSMUST00000009214.2 ENSMUST00000009214.3 ENSMUST00000009214.4 ENSMUST00000009214.5 ENSMUST00000009214.6 ENSMUST00000009214.7 ENSMUST00000009214.8 ENSMUST00000009214.9 Q9D3W1 RSP14_MOUSE Rsph14 Rtdr1 uc287sdl.1 uc287sdl.2 Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia. Component of the axonemal radial spoke complex 1 (RS1), at least composed of spoke head proteins RSPH1, RSPH3, RSPH9 and the cilia-specific component RSPH4A or sperm-specific component RSPH6A, spoke stalk proteins RSPH14, DNAJB13, DYDC1, ROPN1L and NME5, and the anchor protein IQUB. Cytoplasm, cytoskeleton, flagellum axoneme Belongs to the flagellar radial spoke RSP14 family. molecular_function cellular_component biological_process uc287sdl.1 uc287sdl.2 
ENSMUST00000009219.3 Cabp7 ENSMUST00000009219.3 calcium binding protein 7 (from RefSeq NM_138948.4) CABP7_MOUSE Caln2 ENSMUST00000009219.1 ENSMUST00000009219.2 NM_138948 Q91ZM8 uc007hve.1 uc007hve.2 uc007hve.3 Negatively regulates Golgi-to-plasma membrane trafficking by interacting with PI4KB and inhibiting its activity. Interacts with PI4KB. This binding competes with FREQ/NCS1 binding in a calcium-dependent manner (By similarity). Golgi apparatus, trans-Golgi network membrane ; Single-pass type IV membrane protein Cytoplasm, perinuclear region Cell membrane ; Single-pass type IV membrane protein The C-terminal transmembrane domain (TMD) is necessary and sufficient for membrane targeting. calcium ion binding cytoplasm Golgi apparatus plasma membrane biological_process membrane integral component of membrane trans-Golgi network membrane metal ion binding perinuclear region of cytoplasm uc007hve.1 uc007hve.2 uc007hve.3 
ENSMUST00000009220.5 Zmat5 ENSMUST00000009220.5 zinc finger, matrin type 5, transcript variant 1 (from RefSeq NM_026015.4) D11Bwg1548e ENSMUST00000009220.1 ENSMUST00000009220.2 ENSMUST00000009220.3 ENSMUST00000009220.4 NM_026015 Q9CQR5 ZMAT5_MOUSE uc007hvd.1 uc007hvd.2 uc007hvd.3 Component of the U11/U12 snRNPs that are part of the U12-type spliceosome. Not found in the major spliceosome (By similarity). Nucleus nucleus nucleoplasm spliceosomal complex U12-type spliceosomal complex mRNA processing biological_process zinc ion binding RNA splicing metal ion binding uc007hvd.1 uc007hvd.2 uc007hvd.3 
ENSMUST00000009234.16 Ap1b1 ENSMUST00000009234.16 adaptor protein complex AP-1, beta 1 subunit, transcript variant 2 (from RefSeq NM_007454.4) AP1B1_MOUSE Adtb1 ENSMUST00000009234.1 ENSMUST00000009234.10 ENSMUST00000009234.11 ENSMUST00000009234.12 ENSMUST00000009234.13 ENSMUST00000009234.14 ENSMUST00000009234.15 ENSMUST00000009234.2 ENSMUST00000009234.3 ENSMUST00000009234.4 ENSMUST00000009234.5 ENSMUST00000009234.6 ENSMUST00000009234.7 ENSMUST00000009234.8 ENSMUST00000009234.9 NM_007454 O35643 Q3TXG4 Q922E2 uc007hvo.1 uc007hvo.2 uc007hvo.3 uc007hvo.4 Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Adaptor protein complex 1 (AP-1) is a heterotetramer composed of two large adaptins (gamma-type subunit AP1G1 and beta-type subunit AP1B1), a medium adaptin (mu-type subunit AP1M1 or AP1M2) and a small adaptin (sigma-type subunit AP1S1 or AP1S2 or AP1S3). Cytoplasmic vesicle, clathrin-coated vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side Golgi apparatus Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. Widely expressed. Belongs to the adaptor complexes large subunit family. protein binding Golgi apparatus trans-Golgi network cytosol intracellular protein transport determination of left/right symmetry heart development protein transport membrane vesicle-mediated transport protein kinase binding membrane coat clathrin adaptor complex clathrin binding clathrin-coated vesicle membrane cytoplasmic vesicle intracellular membrane-bounded organelle clathrin coat assembly uc007hvo.1 uc007hvo.2 uc007hvo.3 uc007hvo.4 
ENSMUST00000009236.6 Derl3 ENSMUST00000009236.6 Der1-like domain family, member 3, transcript variant 5 (from RefSeq NR_152573.1) DERL3_MOUSE Der3 Derl3 ENSMUST00000009236.1 ENSMUST00000009236.2 ENSMUST00000009236.3 ENSMUST00000009236.4 ENSMUST00000009236.5 Izp6 NR_152573 Q3T9L7 Q99KC6 Q9D8K3 Q9D954 uc007ftj.1 uc007ftj.2 uc007ftj.3 Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the misfolded glycoproteins. May be involved in endoplasmic reticulum stress-induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation. Forms homo- and heterooligomers with DERL2 and, to a lesser extent, with DERL1 (By similarity). Interacts with VCP and EDEM1 (By similarity). Interacts with SELENOK and SELENOS (PubMed:22016385). Interacts with the signal recognition particle/SRP and the SRP receptor; in the process of endoplasmic reticulum stress-induced pre- emptive quality control (By similarity). Endoplasmic reticulum membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9D8K3-1; Sequence=Displayed; Name=2; IsoId=Q9D8K3-2; Sequence=VSP_011090; Highly expressed in spleen, lung, liver, spleen and testis. Expressed at intermediate level in kidney. Weakly or not expressed in brain, heart and skeletal muscle. Expressed in neural cells during enbryogenesis. From 11.5 dpc until 14.5 dpc, it is mainly expressed in the forebrain. From 15.5 dpc until birth, expression in the forebrain becomes weaker but is still observed in the olfactory bulb and the skin around the eyes, nose, limbs and tail, showing that its pattern of expression changes from the central nervous system to the peripheral tissues during development. Belongs to the derlin family. Sequence=AAH04729.1; Type=Erroneous initiation; Evidence=; Hrd1p ubiquitin ligase ERAD-L complex endoplasmic reticulum signal recognition particle receptor complex endoplasmic reticulum membrane membrane integral component of membrane protein N-linked glycosylation via asparagine integral component of endoplasmic reticulum membrane ER-associated ubiquitin-dependent protein catabolic process endoplasmic reticulum unfolded protein response signal recognition particle misfolded protein binding negative regulation of retrograde protein transport, ER to cytosol ubiquitin-specific protease binding uc007ftj.1 uc007ftj.2 uc007ftj.3 
ENSMUST00000009241.7 Tbx1 ENSMUST00000009241.7 T-box 1, transcript variant 4 (from RefSeq NM_001373938.1) ENSMUST00000009241.1 ENSMUST00000009241.2 ENSMUST00000009241.3 ENSMUST00000009241.4 ENSMUST00000009241.5 ENSMUST00000009241.6 F6ZP09 F6ZP09_MOUSE NM_001373938 Tbx1 uc007yoh.1 uc007yoh.2 uc007yoh.3 Nucleus Lacks conserved residue(s) required for the propagation of feature annotation. DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated uc007yoh.1 uc007yoh.2 uc007yoh.3 
ENSMUST00000009256.4 Bcl2l13 ENSMUST00000009256.4 BCL2 like 13 (from RefSeq NM_153516.2) B2L13_MOUSE ENSMUST00000009256.1 ENSMUST00000009256.2 ENSMUST00000009256.3 Mil1 NM_153516 P59017 Q543S1 uc009dnt.1 uc009dnt.2 uc009dnt.3 May promote the activation of caspase-3 and apoptosis. Monomer. Mitochondrion membrane ; Single-pass membrane protein Belongs to the Bcl-2 family. molecular_function mitochondrion apoptotic process membrane integral component of membrane mitochondrial membrane regulation of apoptotic process uc009dnt.1 uc009dnt.2 uc009dnt.3 
ENSMUST00000009259.5 Spatc1l ENSMUST00000009259.5 spermatogenesis and centriole associated 1 like, transcript variant 1 (from RefSeq NM_029661.1) B2RW50 ENSMUST00000009259.1 ENSMUST00000009259.2 ENSMUST00000009259.3 ENSMUST00000009259.4 NM_029661 Q9D9W0 SPC1L_MOUSE uc007fur.1 uc007fur.2 uc007fur.3 Belongs to the speriolin family. molecular_function centrosome biological_process uc007fur.1 uc007fur.2 uc007fur.3 
ENSMUST00000009321.11 Dgcr8 ENSMUST00000009321.11 DGCR8, microprocessor complex subunit (from RefSeq NM_033324.2) DGCR8_MOUSE ENSMUST00000009321.1 ENSMUST00000009321.10 ENSMUST00000009321.2 ENSMUST00000009321.3 ENSMUST00000009321.4 ENSMUST00000009321.5 ENSMUST00000009321.6 ENSMUST00000009321.7 ENSMUST00000009321.8 ENSMUST00000009321.9 NM_033324 Q9EQM6 uc007ynf.1 uc007ynf.2 uc007ynf.3 uc007ynf.4 Component of the microprocessor complex that acts as a RNA- and heme-binding protein that is involved in the initial step of microRNA (miRNA) biogenesis (PubMed:17259983). Component of the microprocessor complex that is required to process primary miRNA transcripts (pri-miRNAs) to release precursor miRNA (pre-miRNA) in the nucleus. Within the microprocessor complex, DGCR8 function as a molecular anchor necessary for the recognition of pri-miRNA at dsRNA- ssRNA junction and directs DROSHA to cleave 11 bp away form the junction to release hairpin-shaped pre-miRNAs that are subsequently cut by the cytoplasmic DICER to generate mature miRNAs. The heme-bound DGCR8 dimer binds pri-miRNAs as a cooperative trimer (of dimers) and is active in triggering pri-miRNA cleavage, whereas the heme-free DGCR8 monomer binds pri-miRNAs as a dimer and is much less active. Both double-stranded and single-stranded regions of a pri-miRNA are required for its binding. Specifically recognizes and binds N6-methyladenosine (m6A)-containing pri-miRNAs, a modification required for pri-miRNAs processing (By similarity). Involved in the silencing of embryonic stem cell self-renewal (PubMed:17259983). Name=heme; Xref=ChEBI:CHEBI:30413; Evidence=; Note=Binds 1 heme group per homodimer. ; Monomer; in absence of heme (By similarity). Homodimer; the association with heme promotes its dimerization (By similarity). Component of the microprocessor complex, or pri-miRNA processing protein complex, which is composed of DROSHA and DGCR8 (PubMed:26255770). The microprocessor complex is a heterotrimer; each of the two DROSHA RNase III domains binds one DGCR8 (via C-terminal region) (By similarity). Interacts with ILF3, NCL and DROSHA (By similarity). Interacts with CPSF3 and ISY1; this interaction is in an RNA dependent manner (PubMed:26255770). Interacts with PUS10; interaction promotes pri-miRNAs processing (By similarity). Nucleus Nucleus, nucleolus Note=Colocalizes with nucleolin and DROSHA in the nucleolus. Mostly detected in the nucleolus as electron-dense granular patches around the fibrillar center (FC) and granular component (GC). Also detected in the nucleoplasm as small foci adjacent to splicing speckles near the chromatin structure. Localized with DROSHA in GW bodies (GWBs), also known as P-bodies. Ubiquitously expressed. Expressed in embryonic stem cells. During embryo development it is expressed in neuroepithelium of primary brain, limb bud, vessels, thymus, and around the palate. RNA binding double-stranded RNA binding nucleus nucleoplasm nucleolus cytoplasm postsynaptic density heme binding primary miRNA processing identical protein binding protein homodimerization activity metal ion binding microprocessor complex primary miRNA binding regulation of stem cell proliferation RNA phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic ribonuclease III activity uc007ynf.1 uc007ynf.2 uc007ynf.3 uc007ynf.4 
ENSMUST00000009329.3 Ccl8 ENSMUST00000009329.3 C-C motif chemokine ligand 8 (from RefSeq NM_021443.3) CCL8_MOUSE ENSMUST00000009329.1 ENSMUST00000009329.2 Mcp2 NM_021443 Q9Z121 Scya8 uc007kmt.1 uc007kmt.2 uc007kmt.3 Chemotactic factor that attracts monocytes. This protein can bind heparin (By similarity). Monomer or homodimer; in equilibrium. Secreted Belongs to the intercrine beta (chemokine CC) family. monocyte chemotaxis cytokine activity extracellular region extracellular space chemotaxis inflammatory response immune response G-protein coupled receptor signaling pathway chemokine activity heparin binding neutrophil chemotaxis positive regulation of GTPase activity positive regulation of myoblast differentiation CCR chemokine receptor binding eosinophil chemotaxis lymphocyte chemotaxis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor positive regulation of myoblast fusion uc007kmt.1 uc007kmt.2 uc007kmt.3 
ENSMUST00000009340.10 Ifi211 ENSMUST00000009340.10 interferon activated gene 211, transcript variant 2 (from RefSeq NM_001301745.1) B7ZNS3 ENSMUST00000009340.1 ENSMUST00000009340.2 ENSMUST00000009340.3 ENSMUST00000009340.4 ENSMUST00000009340.5 ENSMUST00000009340.6 ENSMUST00000009340.7 ENSMUST00000009340.8 ENSMUST00000009340.9 IFI5B_MOUSE Ifi205b Mnda NM_001301745 P0DOV1 P15092 Q08619 Q3TM07 Q3U776 Q3U7F4 Q3U7K5 Q3UCH9 Q8C4X3 Q921V9 uc007dsa.1 uc007dsa.2 uc007dsa.3 uc007dsa.4 The protein encoded by this gene is a member of the interferon-regulated 200 family of proteins, which contain an N-terminal pyrin domain that is proposed to function in cell death and a partially conserved 220 amino acid domain. Expression of this protein in embryonic stem cells is critical for the DNA damage response and regulation of cell survival. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]. May act as a transcriptional regulator in the myeloid lineage. Inhibits cell growth via p53/TP53 and RB1-dependent and independent pathways. Interacts with TP53, RB1, CDK1, CDK2 and HOXB2. Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P0DOV1-1; Sequence=Displayed; Name=2; IsoId=P0DOV1-2; Sequence=VSP_058589; Mononuclear phagocytes. By lipopolysaccharides (LPS). Belongs to the HIN-200 family. The family of genes to which Mnda belongs has undergone a rapid expansion in the mouse. As a consequence, mouse Mnda and human MNDA genes, although belonging to the same family, are not one to one orthologs. Sequence=BAE31364.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding activation of innate immune response double-stranded DNA binding nucleus nucleolus cytosol transcription factor binding response to bacterium nuclear speck positive regulation of interleukin-1 beta production nuclear periphery cellular response to interferon-beta identical protein binding uc007dsa.1 uc007dsa.2 uc007dsa.3 uc007dsa.4 
ENSMUST00000009356.11 Serpinb2 ENSMUST00000009356.11 serine (or cysteine) peptidase inhibitor, clade B, member 2, transcript variant 2 (from RefSeq NM_001174170.1) ENSMUST00000009356.1 ENSMUST00000009356.10 ENSMUST00000009356.2 ENSMUST00000009356.3 ENSMUST00000009356.4 ENSMUST00000009356.5 ENSMUST00000009356.6 ENSMUST00000009356.7 ENSMUST00000009356.8 ENSMUST00000009356.9 NM_001174170 Q542A3 Q542A3_MOUSE Serpinb2 uc007chn.1 uc007chn.2 uc007chn.3 uc007chn.4 Belongs to the serpin family. serine-type endopeptidase inhibitor activity extracellular space negative regulation of endopeptidase activity wound healing negative regulation of apoptotic process uc007chn.1 uc007chn.2 uc007chn.3 uc007chn.4 
ENSMUST00000009358.9 Mymk ENSMUST00000009358.9 myomaker, myoblast fusion factor, transcript variant 1 (from RefSeq NM_025376.3) ENSMUST00000009358.1 ENSMUST00000009358.2 ENSMUST00000009358.3 ENSMUST00000009358.4 ENSMUST00000009358.5 ENSMUST00000009358.6 ENSMUST00000009358.7 ENSMUST00000009358.8 MYMK_MOUSE Mymk NM_025376 Q9D1N4 Tmem8c uc008iwz.1 uc008iwz.2 uc008iwz.3 uc008iwz.4 Myoblast-specific protein that mediates myoblast fusion, an essential step for the formation of multi-nucleated muscle fibers (PubMed:23868259, PubMed:28386024, PubMed:28681861, PubMed:30197239). Actively participates in the membrane fusion reaction by mediating the mixing of cell membrane lipids (hemifusion) upstream of MYMX (PubMed:30197239). Acts independently of MYMX (PubMed:30197239). Involved in skeletal muscle regeneration in response to injury by mediating the fusion of satellite cells, a population of muscle stem cells, with injured myofibers (PubMed:25085416). Also involved in skeletal muscle hypertrophy, probably by mediating the fusion of satellite cells with myofibers (PubMed:28186492). Interacts with MYMX (PubMed:28386024). Cell membrane ulti-pass membrane protein Golgi apparatus membrane ; Multi-pass membrane protein Note=Localizes on the plasma membrane of myoblasts, where it mediates myoblasts fusion (PubMed:23868259, PubMed:28860190). Also localizes in the Golgi apparatus and post-Golgi following palmitoylation; the role of Golgi localization is unclear (PubMed:28860190). Specifically expressed in skeletal muscle during embryogenesis and adult muscle regeneration. During embryogenesis, highly expressed in the myotome compartment of the somites, and later in limb buds and axial skeletal muscles. Specifically expressed in skeletal muscle, and not in other muscle tissues or non-muscle tissues. Expression is down- regulated postnatally. Expression is induced in muscles in response to muscle injury (PubMed:25085416). Expression is induced in muscle progenitors response to muscle overload (PubMed:28186492). Down-regulated by in microRNA miR-491, which binds specifically to its 3' untranslated region of Mymk leading to its down-regulation (PubMed:28579197). Palmitoylated at the C-terminus; palmitoylation promotes localization to the Golgi apparatus. Perinatal death due to an absence of multi- nucleated muscle fibers (PubMed:23868259). Mice are observed at normal Mendelian ratios at 15 dpc and 17.5 dpc, full-term embryos are alive but are paralyzed and kyphotic with flaccid limbs due to skeletal muscle deficiency (PubMed:23868259). They show a complete absence of differentiated muscle tissue in the trunk, limbs or head (PubMed:23868259). Myoblasts can activate muscle-specific gene expression and differentiate, but lack the ability to fuse (PubMed:23868259). Defects are caused by impaired lipid mixing of cell membranes (PubMed:30197239). Conditional deletion in adult satellite cells, a population of muscle stem cells, completely abolishes muscle regeneration after injury, resulting in severe muscle destruction (PubMed:25085416). Conditional deletion in adult satellite cells impairs skeletal muscle hypertrophy in response to exercise (PubMed:28186492). Belongs to the TMEM8 family. Golgi membrane protein binding Golgi apparatus plasma membrane integral component of plasma membrane muscle organ development myoblast fusion myoblast fusion involved in skeletal muscle regeneration membrane integral component of membrane integral component of Golgi membrane skeletal muscle tissue regeneration plasma membrane fusion positive regulation of skeletal muscle hypertrophy uc008iwz.1 uc008iwz.2 uc008iwz.3 uc008iwz.4 
ENSMUST00000009390.10 Trpm5 ENSMUST00000009390.10 transient receptor potential cation channel, subfamily M, member 5 (from RefSeq NM_020277.2) A3KN89 ENSMUST00000009390.1 ENSMUST00000009390.2 ENSMUST00000009390.3 ENSMUST00000009390.4 ENSMUST00000009390.5 ENSMUST00000009390.6 ENSMUST00000009390.7 ENSMUST00000009390.8 ENSMUST00000009390.9 Ltrpc5 Mtr1 NM_020277 Q3TU14 Q7TPL4 Q99NF9 Q9EPM3 Q9EPM4 Q9JJH7 TRPM5_MOUSE Trpm5 uc009kpa.1 uc009kpa.2 uc009kpa.3 Voltage-modulated Ca(2+)-activated, monovalent cation channel (VCAM) that mediates a transient membrane depolarization and plays a central role in taste transduction. Monovalent-specific, non-selective cation channel that mediates the transport of Na(+), K(+) and Cs(+) ions equally well. Activated directly by increases in intracellular Ca(2+), but is impermeable to it. Gating is voltage-dependent and displays rapid activation and deactivation kinetics upon channel stimulation even during sustained elevations in Ca(2+). Also activated by a fast intracellular Ca(2+) increase in response to inositol 1,4,5- triphosphate-producing receptor agonists. The channel is blocked by extracellular acidification. External acidification has 2 effects, a fast reversible block of the current and a slower irreversible enhancement of current inactivation. Is a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. Heat activation is due to a shift of the voltage-dependent activation curve to negative potentials. Activated by arachidonic acid in vitro. May be involved in perception of bitter, sweet and umami tastes. May also be involved in sensing semiochemicals. Phosphatidylinositol 4,5-bisphosphate (PIP2) is able to partially restore sensitivity to Ca(2+) after desensitization. Inhibited by flufenamic acid with an IC(50) of 24.5 uM and spermine with an IC(50) of 37 uM. Cell membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=3; Name=1 IsoId=Q9JJH7-1; Sequence=Displayed; Name=2 ; IsoId=Q9JJH7-2; Sequence=VSP_052746, VSP_052747; Name=3 ; IsoId=Q9JJH7-3; Sequence=VSP_052744, VSP_052745; Strongly expressed in liver, heart, testis, brain and kidney. Detected in fetal liver, kidney, spleen, brain, heart and lung, and in adult skin, eyes, spleen, stomach, small intestine, colon, lung, bladder, pancreas and thymus. Biallelically expressed at all stages and tissues examined. Also expressed in subsets of taste receptor cells of the tongue, in olfactory sensory neurons of the main olfactory epithelium and in the vomeronasal organ. Mice show diminished behavioral and nerve responses to bitter, sweet and umami tastes. Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM5 sub-subfamily. Sequence=CAB94717.2; Type=Frameshift; Evidence=; Sequence=CAC19456.1; Type=Frameshift; Evidence=; ion channel activity calcium activated cation channel activity voltage-gated ion channel activity potassium channel activity sodium channel activity plasma membrane ion transport cation transport membrane integral component of membrane dendrite ion transmembrane transport regulation of ion transmembrane transport sodium ion transmembrane transport neuronal cell body sensory perception of taste transmembrane transport potassium ion transmembrane transport uc009kpa.1 uc009kpa.2 uc009kpa.3 
ENSMUST00000009411.9 Zfp212 ENSMUST00000009411.9 Zinc finger protein 212, transcript variant 1 (from RefSeq NM_145576.2) ENSMUST00000009411.1 ENSMUST00000009411.2 ENSMUST00000009411.3 ENSMUST00000009411.4 ENSMUST00000009411.5 ENSMUST00000009411.6 ENSMUST00000009411.7 ENSMUST00000009411.8 G3X8R7 G3X8R7_MOUSE NM_145576 Zfp212 uc009btm.1 uc009btm.2 uc009btm.3 uc009btm.4 uc009btm.5 nucleic acid binding nucleus regulation of transcription, DNA-templated identical protein binding metal ion binding uc009btm.1 uc009btm.2 uc009btm.3 uc009btm.4 uc009btm.5 
ENSMUST00000009435.12 Pttg1ip ENSMUST00000009435.12 pituitary tumor-transforming 1 interacting protein (from RefSeq NM_145925.3) ENSMUST00000009435.1 ENSMUST00000009435.10 ENSMUST00000009435.11 ENSMUST00000009435.2 ENSMUST00000009435.3 ENSMUST00000009435.4 ENSMUST00000009435.5 ENSMUST00000009435.6 ENSMUST00000009435.7 ENSMUST00000009435.8 ENSMUST00000009435.9 NM_145925 PTTG_MOUSE Q3TVT1 Q8BJ96 Q8N7P0 Q8R143 uc007fvx.1 uc007fvx.2 uc007fvx.3 May facilitate PTTG1 nuclear translocation. Interacts with PTTG1. Cell membrane ; Single-pass type I membrane protein Cytoplasm Nucleus Note=May be cytoplasmic and nuclear. p53 binding nucleus nucleoplasm cytoplasm plasma membrane protein import into nucleus membrane integral component of membrane positive regulation of protein ubiquitination negative regulation of DNA damage response, signal transduction by p53 class mediator negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator positive regulation of cellular protein catabolic process uc007fvx.1 uc007fvx.2 uc007fvx.3 
ENSMUST00000009522.4 Slc16a12 ENSMUST00000009522.4 solute carrier family 16 (monocarboxylic acid transporters), member 12 (from RefSeq NM_172838.4) ENSMUST00000009522.1 ENSMUST00000009522.2 ENSMUST00000009522.3 MOT12_MOUSE Mct12 NM_172838 Q14CF9 Q14DR7 Q8BGC3 Slc16a12 uc008hgu.1 uc008hgu.2 uc008hgu.3 Functions as a transporter for creatine and as well for its precursor guanidinoacetate. Transport of creatine and GAA is independent of resting membrane potential and extracellular Na(+), Cl(-), or pH. Contributes to the process of creatine biosynthesis and distribution. Reaction=creatine(in) = creatine(out); Xref=Rhea:RHEA:73043, ChEBI:CHEBI:57947; Evidence=; Reaction=guanidinoacetate(in) = guanidinoacetate(out); Xref=Rhea:RHEA:73047, ChEBI:CHEBI:57742; Evidence=; Creatine uptake is inhibited by carbonyl cyanide 3-chlorophenylhydrazone (CCCP) and by valinomycin. Interacts with isoform 2 of BSG; this interaction is required for its localization to the plasma membrane. Cell membrane ; Multi-pass membrane protein Basolateral cell membrane ; Multi-pass membrane protein Note=Interaction with isoform 2 of BSG is required for its localization to the plasma membrane. Highly expressed in the lung, liver, kidney, and pancreas (PubMed:26376857). Expressed in eye lens. Expressed in lens at P1 and P7 (PubMed:21778275). The expression levels are higher than in adult lens (PubMed:21778275). Detected in the basolateral membrane of the lens epithelium, with strong staining at equatorial epithelium, and in differentiating secondary fiber cells at P1 (at protein level) (PubMed:21778275). Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family. creatine transmembrane transporter activity plasma membrane integral component of plasma membrane monocarboxylic acid transmembrane transporter activity symporter activity monocarboxylic acid transport creatine transport membrane integral component of membrane transmembrane transport uc008hgu.1 uc008hgu.2 uc008hgu.3 
ENSMUST00000009538.12 Syn2 ENSMUST00000009538.12 synapsin II, transcript variant IIa (from RefSeq NM_001111015.1) ENSMUST00000009538.1 ENSMUST00000009538.10 ENSMUST00000009538.11 ENSMUST00000009538.2 ENSMUST00000009538.3 ENSMUST00000009538.4 ENSMUST00000009538.5 ENSMUST00000009538.6 ENSMUST00000009538.7 ENSMUST00000009538.8 ENSMUST00000009538.9 NM_001111015 Q64332 Q6NZR0 Q9QWV7 SYN2_MOUSE uc009din.1 uc009din.2 uc009din.3 uc009din.4 Neuronal phosphoprotein that coats synaptic vesicles, binds to the cytoskeleton, and is believed to function in the regulation of neurotransmitter release. May play a role in noradrenaline secretion by sympathetic neurons. Can form oligomers with SYN1 (By similarity). Interacts with CAPON. Synapse. Event=Alternative splicing; Named isoforms=2; Name=IIa; IsoId=Q64332-1; Sequence=Displayed; Name=IIb; IsoId=Q64332-2; Sequence=VSP_015203, VSP_015204; Expressed exclusively in neuronal cells. Isoform IIb is enriched in sympathetic cervical ganglion. The A region binds phospholipids with a preference for negatively charged species. Phosphorylation at Ser-10 dissociates synapsins from synaptic vesicles (By similarity). Phosphorylation at Ser-426 by MAPK1/ERK2 and/or MAPK3/ERK1 may play a role in noradrenaline secretion by sympathetic neurons. Belongs to the synapsin family. protein binding ATP binding plasma membrane neurotransmitter secretion synaptic vesicle postsynaptic density calcium ion regulated exocytosis cell junction synaptic vesicle membrane SNARE complex identical protein binding myelin sheath synapse calcium-dependent protein binding synaptic vesicle clustering extrinsic component of synaptic vesicle membrane glutamatergic synapse synaptic vesicle cycle uc009din.1 uc009din.2 uc009din.3 uc009din.4 
ENSMUST00000009550.14 Elk1 ENSMUST00000009550.14 ELK1, member of ETS oncogene family (from RefSeq NM_007922.5) ELK1_MOUSE ENSMUST00000009550.1 ENSMUST00000009550.10 ENSMUST00000009550.11 ENSMUST00000009550.12 ENSMUST00000009550.13 ENSMUST00000009550.2 ENSMUST00000009550.3 ENSMUST00000009550.4 ENSMUST00000009550.5 ENSMUST00000009550.6 ENSMUST00000009550.7 ENSMUST00000009550.8 ENSMUST00000009550.9 Elk1 NM_007922 P41969 Q3V1M9 uc009suc.1 uc009suc.2 uc009suc.3 This gene is a member of the Ets family of transcription factors and of the ternary complex factor (TCF) subfamily. Proteins of the TCF subfamily form a ternary complex by binding to the the serum response factor and the serum response element in the promoter of the c-fos proto-oncogene. The protein encoded by this gene is a nuclear target for the ras-raf-MAPK signaling cascade. This gene may produce multiple isoforms by the use of alternative translational start codons. [provided by RefSeq, Mar 2012]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK132354.1, SRR1660815.20528.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript regulatory uORF :: PMID: 22354998 ##RefSeq-Attributes-END## Transcription factor that binds to purine-rich DNA sequences. Forms a ternary complex with SRF and the ETS and SRF motifs of the serum response element (SRE) on the promoter region of immediate early genes such as FOS and IER2 (By similarity). Induces target gene transcription upon JNK-signaling pathway stimulation (By similarity). Interacts in its sumoylated form with PIAS2/PIASX which enhances its transcriptional activator activity. Interacts with MAD2L2; the interaction is direct and promotes phosphorylation by the kinases MAPK8 and/or MAPK9. Interacts with POU1F1. P41969; P30275: Ckmt1; NbExp=2; IntAct=EBI-15576110, EBI-773103; Nucleus. Predominantly expressed in the brain, and to a lesser extent in the heart, liver and muscle. Sumoylation represses transcriptional activator activity as it results in recruitment of HDAC2 to target gene promoters which leads to decreased histone acetylation and reduced transactivator activity. It also regulates nuclear retention (By similarity). On mitogenic stimulation, phosphorylated on C-terminal serine and threonine residues by MAPK1 but also MAPK8 and/or MAPK9. Phosphorylation leads to loss of sumoylation and restores transcriptional activator activity. Phosphorylated and activated by CaMK4, MAPK11, MAPK12 and MAPK14 (By similarity). Upon bFGF stimulus, phosphorylated by PAK1 (By similarity). Belongs to the ETS family. RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding chromatin binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm mitochondrion regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter response to light stimulus cell differentiation dendrite neuronal cell body sequence-specific DNA binding axon terminus positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter cellular response to testosterone stimulus cellular response to lipid cellular response to gamma radiation response to fibroblast growth factor positive regulation of neuron death uc009suc.1 uc009suc.2 uc009suc.3 
ENSMUST00000009679.11 Rnmt ENSMUST00000009679.11 RNA (guanine-7-) methyltransferase, transcript variant 1 (from RefSeq NM_026440.4) ENSMUST00000009679.1 ENSMUST00000009679.10 ENSMUST00000009679.2 ENSMUST00000009679.3 ENSMUST00000009679.4 ENSMUST00000009679.5 ENSMUST00000009679.6 ENSMUST00000009679.7 ENSMUST00000009679.8 ENSMUST00000009679.9 Kiaa0398 MCES_MOUSE NM_026440 Q3V3U9 Q6ZQC6 Q9D0L8 Q9D5F1 uc008fnk.1 uc008fnk.2 uc008fnk.3 Catalytic subunit of the mRNA-capping methyltransferase RNMT:RAMAC complex that methylates the N7 position of the added guanosine to the 5'-cap structure of mRNAs. Binds RNA containing 5'- terminal GpppC. Reaction=a 5'-end (5'-triphosphoguanosine)-(ribonucleoside) in mRNA + S-adenosyl-L-methionine = a 5'-end (N(7)-methyl 5'- triphosphoguanosine)-ribonucleoside in mRNA + S-adenosyl-L- homocysteine; Xref=Rhea:RHEA:67008, Rhea:RHEA-COMP:17166, Rhea:RHEA- COMP:17167, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:156461, ChEBI:CHEBI:167617; EC=2.1.1.56; Evidence= Methyltransferase activity is activated by RAMAC. Interacts with importin alpha, leading to stimulate both RNA- binding and methyltransferase activity. Interaction with importin alpha and beta is required for its nuclear localization, importin beta dissociating in response to RanGTP, allowing RNMT-importin alpha to bind RNA substrates. Interacts with elongating form of polymerase II and RNGTT. Interacts with RAMAC, this interaction significantly enhances RNA-binding and cap methyltransferase activity. Nucleus Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9D0L8-1; Sequence=Displayed; Name=2; IsoId=Q9D0L8-2; Sequence=VSP_020243; Name=3; IsoId=Q9D0L8-3; Sequence=VSP_020242; Belongs to the class I-like SAM-binding methyltransferase superfamily. mRNA cap 0 methyltransferase family. Sequence=BAC97940.1; Type=Erroneous initiation; Evidence=; fibrillar center RNA binding mRNA (guanine-N7-)-methyltransferase activity nucleus nucleoplasm mRNA cap binding complex 7-methylguanosine mRNA capping mRNA processing methyltransferase activity transferase activity mRNA cap methyltransferase complex methylation receptor complex cellular response to leukemia inhibitory factor uc008fnk.1 uc008fnk.2 uc008fnk.3 
ENSMUST00000009689.11 Kcnq1 ENSMUST00000009689.11 potassium voltage-gated channel, subfamily Q, member 1, transcript variant 1 (from RefSeq NM_008434.3) ENSMUST00000009689.1 ENSMUST00000009689.10 ENSMUST00000009689.2 ENSMUST00000009689.3 ENSMUST00000009689.4 ENSMUST00000009689.5 ENSMUST00000009689.6 ENSMUST00000009689.7 ENSMUST00000009689.8 ENSMUST00000009689.9 KCNQ1_MOUSE Kcna9 Kcnq1 Kvlqt1 NM_008434 O88702 P97414 Q3U4H1 Q7TNZ1 Q7TPL7 Q80VR7 uc009kpb.1 uc009kpb.2 Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (By similarity) (PubMed:16314573, PubMed:11120752, PubMed:15004216). Associates with KCNE beta subunits that modulates current kinetics (By similarity) (PubMed:17597584, PubMed:15004216). Induces a voltage-dependent by rapidly activating and slowly deactivating potassium-selective outward current (By similarity) (PubMed:8900282). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta-adrenergic receptor stimulation participates in cardiac repolarization by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks) (By similarity) (PubMed:15004216, PubMed:17597584). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (By similarity). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (By similarity). This interaction with KCNE3 is reduced by 17beta-estradiol, resulting in the reduction of currents (By similarity). During conditions of increased substrate load, maintains the driving force for proximal tubular and intestinal sodium ions absorption, gastric acid secretion, and cAMP-induced jejunal chloride ions secretion (PubMed:16314573). Allows the provision of potassium ions to the luminal membrane of the secretory canaliculus in the resting state as well as during stimulated acid secretion (PubMed:19491250). When associated with KCNE2, forms an heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (By similarity). When associated with KCNE4, inhibits voltage-gated potassium channel activity (By similarity). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (By similarity). Also forms a heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (By similarity). Binds with phosphatidylinositol 4,5-bisphosphate (By similarity). KCNQ1-KCNE2 channel associates with Na(+)-coupled myo-inositol symporter in the apical membrane of choroid plexus epithelium and regulates the myo- inositol gradient between blood and cerebrospinal fluid with an impact on neuron excitability. Tetramer (By similarity). Heterotetramer with KCNE1; form the native cardiac channel I(Ks) which increases the amplitude and slows down the activation kinetics of outward potassium current and targets to the membrane raft (By similarity) (PubMed:8900282). Interacts (via C-terminus) with CALM; forms a heterooctameric structure (with 4:4 KCNQ1:CALM stoichiometry) in a calcium-independent manner. Interacts with AKAP9; targets protein kinase A (PKA) catalytic and regulatory subunits and protein phosphatase 1 (PP1) to the KCNQ1-KCNE1 complex, allowing PKA-mediated phosphorylation and increase of delayed rectifier potassium channel activity. Interacts with KCNE2; form an heterooligomer complex that targets to the membrane raft and leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current. Interacts with AP2M1; mediates estrogen-induced internalization via clathrin-coated vesicles. Interacts with NEDD4L; promotes internalization and decreases I(Ks) currents. Interacts with USP2; counteracts the NEDD4L-specific down- regulation of I(Ks) and restore plasma membrane localization. Heterotetramer with KCNQ5; has a voltage-gated potassium channel activity. Interacts with KCNE3; alters membrane raft localization. Interacts with KCNE4; impairs KCNQ1 localization in lipid rafts and inhibits voltage-gated potassium channel activity. Interacts with KCNE5; impairs KCNQ1 localization in lipid rafts and only conducts current upon strong and continued depolarization (By similarity). Interacts with SLC5A3; forms coregulatory channel-transporter complexes that modulate Na(+)-coupled myo-inositol influx through the transporter. Cell membrane ; Multi-pass membrane protein Cytoplasmic vesicle membrane Early endosome Membrane raft Endoplasmic reticulum Basolateral cell membrane Apical cell membrane ; Multi-pass membrane protein Note=Colocalized with KCNE3 at the plasma membrane. Upon 17beta-oestradiol treatment, colocalizes with RAB5A at early endosome. Heterotetramer with KCNQ5 is highly retained at the endoplasmic reticulum and is localized outside of lipid raft microdomains. During the early stages of epithelial cell polarization induced by the calcium switch it is removed from the plasma membrane to the endoplasmic reticulum, where it is retained, and redistributed to the basolateral cell surface in a PI3K-dependent manner at a later stage. Colocalizes with SLC5A3 at the apical membrane of choroid plexus epithelium (PubMed:24595108). Event=Alternative splicing; Named isoforms=2; Name=I; IsoId=P97414-1; Sequence=Displayed; Name=II; IsoId=P97414-2; Sequence=VSP_011748, VSP_000983; Expressed in heart, kidney and salivary glands. Detected in the cochlea. Almost undetectable in brain, skeletal muscle and liver. Widely expressed in embryonic and neonatal tissues (PubMed:9618174). Expressed in choroid plexus epithelium (at protein level) (PubMed:24595108). The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. The coiled-coil domain mediates tetramerization. The segment S6 is involved in the inhibition of voltage-gated potassium channel activity by KCNE4. The C-terminal assembly domain promotes self-interactiona; allows functional channel. The C-terminal coiled-coil domain interacts with a single CALM molecule via the first two membrane-proximal helical regions, with CALM forming a clamp-like structure. Binding of CALM C-terminus to the first helical region is calcium-independent but is essential for assembly of the structure. Binding of CALM N-terminus to the second helical region is calcium-dependent and regulates electrophysiological activity of the channel. Phosphorylation at Ser-27 by PKA; increases delayed rectifier potassium channel activity of the KCNQ1-KCNE1 complex through a macromolecular complex that includes PKA, PP1, and the targeting protein AKAP9. Ubiquitinated by NEDD4L; promotes internalization. The ubiquitinylated form is internalized through a clathrin-mediated endocytosis by interacting with AP2M1 and is recycled back to the cell membrane via RAB4A and RAB11A. Deubiquitinated by USP2; counteracts the NEDD4L-specific down- regulation of I(Ks) and restores the membrane localization. Mice lacking Kcnq1 show an intestinal absorption impairment which is associated with reduced serum vitamin B12 concentrations, mild macrocytic anemia, and fecal loss of sodium and potassium ions (PubMed:16314573). Mice lacking Kcnq1 show microvillar secretory membranes intact, but basal acid secretion is absent and forskolin-stimulated acid output is reduced by approximately 90% in gastric mucosa (PubMed:19491250). Homozygous Kcnq1 mice develop normally and are viable, demonstrate hyperactivity, circling, and nodding behaviors; exhibit no electrocardiographic abnormalities but present a complete deafness, as well as circular movement and repetitive falling; show severe anatomic disruption of the cochlear and vestibular end organs; also display threefold enlargement by weight of the stomach resulting from mucous neck cell hyperplasia (PubMed:11120752). Mice neonates lacking Kcnq1 display significantly prolonged QT intervals during baseline ECG assessments which significantly increased following isoproterenol challenge; furthermore, the slow delayed rectifier potassium current (IKs) is absent (PubMed:15004216). Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily. Sequence=AAB36518.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; ion channel activity voltage-gated ion channel activity voltage-gated potassium channel activity delayed rectifier potassium channel activity potassium channel activity calmodulin binding phosphatidylinositol-4,5-bisphosphate binding cytoplasm lysosome endosome early endosome late endosome endoplasmic reticulum plasma membrane integral component of plasma membrane regulation of gene expression by genetic imprinting ion transport potassium ion transport voltage-gated potassium channel complex protein phosphatase 1 binding positive regulation of heart rate outward rectifier potassium channel activity membrane integral component of membrane basolateral plasma membrane gene silencing cytoplasmic vesicle membrane cytoplasmic vesicle protein kinase A catalytic subunit binding protein kinase A regulatory subunit binding ion channel complex regulation of ion transmembrane transport cellular response to drug sarcolemma regulation of membrane potential zymogen granule membrane protein homodimerization activity ion channel binding membrane raft negative regulation of insulin secretion inner ear development intestinal absorption transmembrane transport cardiac muscle contraction regulation of membrane repolarization regulation of ventricular cardiac muscle cell membrane repolarization regulation of atrial cardiac muscle cell membrane repolarization positive regulation of cardiac muscle contraction regulation of gastric acid secretion positive regulation of gastric acid secretion renal absorption cellular response to cAMP potassium ion transmembrane transport response to anesthetic cardiovascular system development ventricular cardiac muscle cell action potential voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization membrane repolarization membrane repolarization during action potential membrane repolarization during cardiac muscle cell action potential atrial cardiac muscle cell action potential voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization regulation of heart rate by cardiac conduction scaffold protein binding potassium ion export across plasma membrane membrane repolarization during atrial cardiac muscle cell action potential membrane repolarization during ventricular cardiac muscle cell action potential positive regulation of potassium ion transmembrane transport negative regulation of delayed rectifier potassium channel activity voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization negative regulation of voltage-gated potassium channel activity uc009kpb.1 uc009kpb.2 
ENSMUST00000009693.15 Srp14 ENSMUST00000009693.15 signal recognition particle 14 (from RefSeq NM_009273.4) ENSMUST00000009693.1 ENSMUST00000009693.10 ENSMUST00000009693.11 ENSMUST00000009693.12 ENSMUST00000009693.13 ENSMUST00000009693.14 ENSMUST00000009693.2 ENSMUST00000009693.3 ENSMUST00000009693.4 ENSMUST00000009693.5 ENSMUST00000009693.6 ENSMUST00000009693.7 ENSMUST00000009693.8 ENSMUST00000009693.9 NM_009273 P16254 Q3TIK2 SRP14_MOUSE uc008lsa.1 uc008lsa.2 uc008lsa.3 Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER) (By similarity). SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP (By similarity). The complex of SRP9 and SRP14 is required for SRP RNA binding (By similarity). Heterodimer with SRP9; binds RNA as heterodimer (By similarity). Component of a signal recognition particle (SRP) complex that consists of a 7SL RNA molecule of 300 nucleotides and six protein subunits: SRP72, SRP68, SRP54, SRP19, SRP14 and SRP9 (PubMed:9233785). Cytoplasm. Belongs to the SRP14 family. RNA binding nucleus cytoplasm signal recognition particle, endoplasmic reticulum targeting SRP-dependent cotranslational protein targeting to membrane 7S RNA binding endoplasmic reticulum signal peptide binding response to drug protein targeting to ER signal recognition particle uc008lsa.1 uc008lsa.2 uc008lsa.3 
ENSMUST00000009699.16 Cdk9 ENSMUST00000009699.16 cyclin dependent kinase 9 (from RefSeq NM_130860.3) B0R020 CDK9_MOUSE ENSMUST00000009699.1 ENSMUST00000009699.10 ENSMUST00000009699.11 ENSMUST00000009699.12 ENSMUST00000009699.13 ENSMUST00000009699.14 ENSMUST00000009699.15 ENSMUST00000009699.2 ENSMUST00000009699.3 ENSMUST00000009699.4 ENSMUST00000009699.5 ENSMUST00000009699.6 ENSMUST00000009699.7 ENSMUST00000009699.8 ENSMUST00000009699.9 NM_130860 Q3U002 Q3UMY2 Q3UPT3 Q3UQI6 Q8BTN0 Q99J95 uc008jgo.1 uc008jgo.2 uc008jgo.3 uc008jgo.4 Protein kinase involved in the regulation of transcription. Member of the cyclin-dependent kinase pair (CDK9/cyclin-T) complex, also called positive transcription elongation factor b (P-TEFb), which facilitates the transition from abortive to productive elongation by phosphorylating the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A, SUPT5H and RDBP. This complex is inactive when in the 7SK snRNP complex form. Phosphorylates EP300, MYOD1, RPB1/POLR2A and AR and the negative elongation factors DSIF and NELFE. Regulates cytokine inducible transcription networks by facilitating promoter recognition of target transcription factors (e.g. TNF-inducible RELA/p65 activation and IL-6-inducible STAT3 signaling). Promotes RNA synthesis in genetic programs for cell growth, differentiation and viral pathogenesis. P-TEFb is also involved in cotranscriptional histone modification, mRNA processing and mRNA export. Modulates a complex network of chromatin modifications including histone H2B monoubiquitination (H2Bub1), H3 lysine 4 trimethylation (H3K4me3) and H3K36me3; integrates phosphorylation during transcription with chromatin modifications to control co- transcriptional histone mRNA processing. The CDK9/cyclin-K complex has also a kinase activity towards CTD of RNAP II and can substitute for CDK9/cyclin-T P-TEFb in vitro. Replication stress response protein; the CDK9/cyclin-K complex is required for genome integrity maintenance, by promoting cell cycle recovery from replication arrest and limiting single-stranded DNA amount in response to replication stress, thus reducing the breakdown of stalled replication forks and avoiding DNA damage. In addition, probable function in DNA repair of isoform 2 via interaction with KU70/XRCC6. Promotes cardiac myocyte enlargement. RPB1/POLR2A phosphorylation on 'Ser-2' in CTD activates transcription. AR phosphorylation modulates AR transcription factor promoter selectivity and cell growth. DSIF and NELF phosphorylation promotes transcription by inhibiting their negative effect. The phosphorylation of MYOD1 enhances its transcriptional activity and thus promotes muscle differentiation. Catalyzes phosphorylation of KAT5, promoting KAT5 recruitment to chromatin and histone acetyltransferase activity. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.22; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:17990; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.22; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46609; Evidence=; Reaction=[DNA-directed RNA polymerase] + ATP = ADP + H(+) + phospho- [DNA-directed RNA polymerase]; Xref=Rhea:RHEA:10216, Rhea:RHEA- COMP:11321, Rhea:RHEA-COMP:11322, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43176, ChEBI:CHEBI:68546, ChEBI:CHEBI:456216; EC=2.7.11.23; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:10217; Evidence=; Activation by Thr-186 phosphorylation is calcium Ca(2+) signaling pathway-dependent; actively inactivated by dephosphorylation mediated by PPP1CA, PPM1A and PPM1B. Reversibly repressed by acetylation at Lys-44 and Lys-48 (By similarity). Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Associates with CCNT1/cyclin-T1, CCNT2/cyclin-T2 (isoform A and isoform B) or CCNK/cyclin-K to form active P-TEFb. P-TEFb forms a complex with AFF4/AF5Q31 and is part of the super elongation complex (SEC). Component of a complex which is composed of at least 5 members: HTATSF1/Tat-SF1, P-TEFb complex, RNA pol II, SUPT5H, and NCL/nucleolin. Associates with UBR5 and forms a transcription regulatory complex composed of CDK9, RNAP II, UBR5 and TFIIS/TCEA1 that can stimulate target gene transcription (e.g. gamma fibrinogen/FGG) by recruiting their promoters. Component of the 7SK snRNP inactive complex which is composed of at least 8 members: P-TEFb (composed of CDK9 and CCNT1/cyclin-T1), HEXIM1, HEXIM2, LARP7, BCDIN3, SART3 proteins and 7SK and U6 snRNAs. This inactive 7SK snRNP complex can also interact with NCOR1 and HDAC3, probably to regulate CDK9 acetylation. Release of P-TEFb from P-TEFb/7SK snRNP complex requires both PP2B to transduce calcium Ca(2+) signaling in response to stimuli (e.g. UV or hexamethylene bisacetamide (HMBA)), and PPP1CA to dephosphorylate Thr-186. This released P-TEFb remains inactive in the pre-initiation complex with BRD4 until new Thr-186 phosphorylation occurs after the synthesis of a short RNA. Interacts with BRD4; to target chromatin binding. Interacts with JMJD6. Interacts with activated nuclear STAT3 and RELA/p65. Binds to AR and MYOD1. Forms a complex composed of CDK9, CCNT1/cyclin-T1, EP300 and GATA4 that stimulates hypertrophy in cardiomyocytes (By similarity). The large PER complex involved in the repression of transcriptional termination is composed of at least PER2, CDK9, DDX5, DHX9, NCBP1 and POLR2A (active) (PubMed:22767893). Interacts with HSF1 (By similarity). Interacts with TBX21 (PubMed:27292648). Interacts with WDR43 (PubMed:31128943). Interacts with ZMYND8; the association appears to occur between homodimeric ZMYND8 and the activated form of the P-TEFb complex (By similarity). Q99J95; Q91Y44: Brdt; NbExp=3; IntAct=EBI-2654963, EBI-6260929; Q99J95; P28574: Max; NbExp=2; IntAct=EBI-2654963, EBI-1183003; Q99J95; Q62093: Srsf2; NbExp=3; IntAct=EBI-2654963, EBI-2550402; Nucleus Cytoplasm Nucleus, PML body Note=Accumulates on chromatin in response to replication stress. Complexed with CCNT1 in nuclear speckles, but uncomplexed form in the cytoplasm. The translocation from nucleus to cytoplasm is XPO1/CRM1-dependent. Associates with PML body when acetylated (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q99J95-1; Sequence=Displayed; Name=2; IsoId=Q99J95-2; Sequence=VSP_016289; Name=3; IsoId=Q99J95-3; Sequence=VSP_016290; Expressed at high levels in brain and kidney. Autophosphorylation at Thr-186, Ser-347, Thr-350, Ser-353, Thr-354 and Ser-357 triggers kinase activity by promoting cyclin and substrate binding upon conformational changes. Thr-186 phosphorylation requires the calcium Ca(2+) signaling pathway, including CaMK1D and calmodulin. This inhibition is relieved by Thr-29 dephosphorylation. Phosphorylation at Ser-175 inhibits kinase activity. Can be phosphorylated on either Thr-362 or Thr-363 but not on both simultaneously (By similarity). Dephosphorylation of Thr-186 by PPM1A and PPM1B blocks CDK9 activity and may lead to CDK9 proteasomal degradation. However, PPP1CA- mediated Thr-186 dephosphorylation is required to release P-TEFb from its inactive P-TEFb/7SK snRNP complex. Dephosphorylation of C-terminus Thr and Ser residues by protein phosphatase-1 (PP1) triggers CDK9 activity (By similarity). N6-acetylation of Lys-44 promotes kinase activity, whereas acetylation of both Lys-44 and Lys-48 mediated by PCAF/KAT2B and GCN5/KAT2A reduces kinase activity. The acetylated form associates with PML bodies in the nuclear matrix and with the transcriptionally silent HIV-1 genome; deacetylated upon transcription stimulation. Deacetylated by SIRT7, promoting the kinase activity and subsequent 'Ser-2' phosphorylation of the C-terminal domain (CTD) of RNA polymerase II. Polyubiquitinated and thus activated by UBR5. This ubiquitination is promoted by TFIIS/TCEA1 and favors 'Ser-2' phosphorylation of RPB1/POLR2A CTD (By similarity). Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Sequence=BAE25966.1; Type=Frameshift; Evidence=; nucleotide binding cyclin-dependent protein kinase holoenzyme complex nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription coactivator binding DNA binding chromatin binding protein kinase activity protein serine/threonine kinase activity cyclin-dependent protein serine/threonine kinase activity protein binding ATP binding nucleus nucleoplasm chromosome cytoplasm DNA repair regulation of DNA repair transcription elongation from RNA polymerase II promoter protein phosphorylation cellular response to DNA damage stimulus transcription elongation factor complex cyclin/CDK positive transcription elongation factor complex transcription factor binding RNA polymerase II carboxy-terminal domain kinase activity positive regulation of cardiac muscle hypertrophy kinase activity phosphorylation PML body transferase activity snRNA binding protein kinase binding cyclin binding regulation of histone modification replication fork processing positive regulation of transcription elongation from RNA polymerase II promoter positive regulation of histone phosphorylation cytoplasmic ribonucleoprotein granule response to drug transcription regulatory region DNA binding positive regulation of transcription from RNA polymerase II promoter regulation of muscle cell differentiation phosphorylation of RNA polymerase II C-terminal domain negative regulation of cell cycle arrest cellular response to cytokine stimulus 7SK snRNA binding negative regulation of mRNA polyadenylation positive regulation of mRNA 3'-UTR binding positive regulation of histone H2B ubiquitination uc008jgo.1 uc008jgo.2 uc008jgo.3 uc008jgo.4 
ENSMUST00000009705.14 Eng ENSMUST00000009705.14 endoglin, transcript variant 1 (from RefSeq NM_007932.2) EGLN_MOUSE ENSMUST00000009705.1 ENSMUST00000009705.10 ENSMUST00000009705.11 ENSMUST00000009705.12 ENSMUST00000009705.13 ENSMUST00000009705.2 ENSMUST00000009705.3 ENSMUST00000009705.4 ENSMUST00000009705.5 ENSMUST00000009705.6 ENSMUST00000009705.7 ENSMUST00000009705.8 ENSMUST00000009705.9 Edg NM_007932 Q61520 Q63961 Q8K100 uc008jgk.1 uc008jgk.2 uc008jgk.3 uc008jgk.4 Vascular endothelium glycoprotein that plays an important role in the regulation of angiogenesis (PubMed:10625534). Required for normal structure and integrity of adult vasculature (By similarity). Regulates the migration of vascular endothelial cells (PubMed:17540773). Required for normal extraembryonic angiogenesis and for embryonic heart development (PubMed:10625534). May regulate endothelial cell shape changes in response to blood flow, which drive vascular remodeling and establishment of normal vascular morphology during angiogenesis (PubMed:28530658). May play a role in the binding of endothelial cells to integrins. Acts as a TGF-beta coreceptor and is involved in the TGF-beta/BMP signaling cascade that ultimately leads to the activation of SMAD transcription factors (PubMed:23300529). Required for GDF2/BMP9 signaling through SMAD1 in endothelial cells and modulates TGFB1 signaling through SMAD3 (By similarity). Homodimer; disulfide-linked (PubMed:8194490). Forms a heteromeric complex with the signaling receptors for transforming growth factor-beta: TGFBR1 and/or TGFBR2. Interacts with TGFB1 (PubMed:8194490). It is able to bind TGFB1 and TGFB2 with high affinity, but not TGFB3. Interacts with GDF2, forming a heterotetramer with a 2:2 stoichiometry. Interacts with ACVRL1. Can form a heteromeric complex with GDF2 and ACVRL1. Interacts with BMP10. Interacts with DYNLT4. Interacts with ARRB2. Cell membrane ; Single-pass type I membrane protein Detected on blood vessels (at protein level) (PubMed:8194490). Detected on adult pulmonary artery, capillaries supporting the heart muscle and lung alveolar capillary endothelial cells (PubMed:10625534). Endoglin is restricted to endothelial cells in all tissues except bone marrow and is also found in stromal cells within the connective tissue of intestine, stomach, heart, skeletal muscle, uterus, ovary, oviduct, testis and thymus (PubMed:8194490). Detected in embryo (at protein level). Detected in endothelium from yolk sac vessels. The ZP domain mediates dimerization. The N-terminal OR region is composed of two intertwined domains (OR1 and OR2) with a common, novel fold. Each contains 12 beta-strands that form a parallel beta-helix-like structure, plus a single alpha- helix. The OR1 region mediates interaction with GDF2. Full embryonic lethality at about 10.5 dpc. At 9.5 dpc, embryos display abnormal yolk sac vasculature and yolk sac anemia. Mutant embryos are also anemic, probably due to defective hematopoiesis in the yolk sac. In contrast, the embryonic vasculature appears grossly normal in most cases, but heart development is abnormal, and nearly all mutant embryos had enlarged ventricles and dilated outflow tracts. Besides, many had abnormal cardiac looping and displayed pericardial effusion. Heterozygous mice have occasionally abnormally convoluted and dilated blood vessels with disorganized smooth muscle cells surrounding them; these blood vessels are very fragile and rupture easily. Lacks a RGD motif, contrary to the human protein. negative regulation of transcription from RNA polymerase II promoter chronological cell aging angiogenesis branching involved in blood vessel morphogenesis vasculogenesis response to hypoxia positive regulation of protein phosphorylation negative regulation of endothelial cell proliferation heart looping positive regulation of systemic arterial blood pressure outflow tract septum morphogenesis epithelial to mesenchymal transition involved in endocardial cushion formation endocardial cushion morphogenesis cardiac ventricle morphogenesis cardiac atrium morphogenesis ventricular trabecula myocardium morphogenesis cell migration involved in endocardial cushion formation transforming growth factor beta-activated receptor activity transforming growth factor beta receptor, cytoplasmic mediator activity type II transforming growth factor beta receptor binding protein binding galactose binding glycosaminoglycan binding extracellular space plasma membrane regulation of transcription, DNA-templated cell adhesion transforming growth factor beta receptor signaling pathway heart development external side of plasma membrane cell surface positive regulation of gene expression negative regulation of gene expression positive regulation of pathway-restricted SMAD protein phosphorylation membrane integral component of membrane cell migration regulation of transforming growth factor beta receptor signaling pathway central nervous system vasculogenesis extracellular matrix disassembly negative regulation of cell migration positive regulation of BMP signaling pathway negative regulation of protein autophosphorylation positive regulation of collagen biosynthetic process type I transforming growth factor beta receptor binding dorsal aorta morphogenesis BMP binding wound healing identical protein binding protein homodimerization activity receptor complex positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter smooth muscle tissue development artery morphogenesis venous blood vessel morphogenesis cell motility transforming growth factor beta binding negative regulation of nitric-oxide synthase activity positive regulation of protein kinase B signaling atrial cardiac muscle tissue morphogenesis cell chemotaxis negative regulation of pathway-restricted SMAD protein phosphorylation extracellular matrix constituent secretion detection of hypoxia endothelial microparticle vascular smooth muscle cell development positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation positive regulation of vascular smooth muscle cell differentiation atrioventricular canal morphogenesis sprouting angiogenesis regulation of cardiac muscle cell apoptotic process endocardial cushion to mesenchymal transition cardiac jelly development regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis regulation of cell proliferation involved in heart morphogenesis uc008jgk.1 uc008jgk.2 uc008jgk.3 uc008jgk.4 
ENSMUST00000009707.14 Tor2a ENSMUST00000009707.14 torsin family 2, member A, transcript variant 14 (from RefSeq NR_178212.1) ENSMUST00000009707.1 ENSMUST00000009707.10 ENSMUST00000009707.11 ENSMUST00000009707.12 ENSMUST00000009707.13 ENSMUST00000009707.2 ENSMUST00000009707.3 ENSMUST00000009707.4 ENSMUST00000009707.5 ENSMUST00000009707.6 ENSMUST00000009707.7 ENSMUST00000009707.8 ENSMUST00000009707.9 NR_178212 Q3TBH0 Q3TC01 Q3V4D1 Q8R1J9 Q8R5B5 TOR2A_MOUSE uc008jgt.1 uc008jgt.2 uc008jgt.3 Homohexamer. Interacts with TOR1AIP1. Endoplasmic reticulum lumen Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8R1J9-1; Sequence=Displayed; Name=2; IsoId=Q8R1J9-2; Sequence=VSP_017705; Name=3; IsoId=P0C7W3-1; Sequence=External; Expressed at similar levels in liver, muscle and brain (at protein level). At 16 dpc, widely expressed in all tissues tested. N-glycosylated. Belongs to the ClpA/ClpB family. Torsin subfamily. nucleotide binding protein binding ATP binding nuclear envelope endoplasmic reticulum endoplasmic reticulum lumen ATPase activity identical protein binding chaperone mediated protein folding requiring cofactor uc008jgt.1 uc008jgt.2 uc008jgt.3 
ENSMUST00000009727.12 Syngr1 ENSMUST00000009727.12 synaptogyrin 1, transcript variant 1a (from RefSeq NM_207708.2) B9EI16 ENSMUST00000009727.1 ENSMUST00000009727.10 ENSMUST00000009727.11 ENSMUST00000009727.2 ENSMUST00000009727.3 ENSMUST00000009727.4 ENSMUST00000009727.5 ENSMUST00000009727.6 ENSMUST00000009727.7 ENSMUST00000009727.8 ENSMUST00000009727.9 NM_207708 O55100 Q543Y5 Q9DCB0 SNG1_MOUSE Syngr1 uc007wvd.1 uc007wvd.2 uc007wvd.3 May play a role in regulated exocytosis. Modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in synaptic-like microvesicle formation and/or maturation (By similarity). Involved in the regulation of short- term and long-term synaptic plasticity (PubMed:10595519). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Multi-pass membrane protein Melanosome Event=Alternative splicing; Named isoforms=2; Name=1A; IsoId=O55100-1; Sequence=Displayed; Name=1B; IsoId=O55100-2; Sequence=VSP_006333; Mice lacking both Syngr1 and Syp show normal brain structure and composition, but impaired short-term and long-term synaptic plasticity. Belongs to the synaptogyrin family. protein targeting synaptic vesicle membrane integral component of membrane cell junction integral component of synaptic vesicle membrane synaptic vesicle membrane cytoplasmic vesicle neuromuscular junction melanosome regulated exocytosis synapse regulation of long-term neuronal synaptic plasticity regulation of short-term neuronal synaptic plasticity synaptic vesicle membrane organization cellular response to leukemia inhibitory factor uc007wvd.1 uc007wvd.2 uc007wvd.3 
ENSMUST00000009732.8 St6galnac1 ENSMUST00000009732.8 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (from RefSeq NM_011371.2) A2AA23 ENSMUST00000009732.1 ENSMUST00000009732.2 ENSMUST00000009732.3 ENSMUST00000009732.4 ENSMUST00000009732.5 ENSMUST00000009732.6 ENSMUST00000009732.7 NM_011371 Q9JJP5 Q9QZ39 SIA7A_MOUSE Siat7a St6galnac1 uc007mme.1 uc007mme.2 Protein sialyltransferase specifically expressed in goblet cells that plays a key role in intestinal host-commensal homeostasis (PubMed:35303419). Conjugates sialic acid with an alpha-2-6 linkage to N-acetylgalactosamine (GalNAc) glycan chains linked to serine or threonine in glycoproteins (PubMed:10788794). Catalyzes the formation of the sialyl-Tn (S-Tn) antigen, an antigen found in intestinal goblet cells (PubMed:35303419). Protein sialylation in globlet cells is essential for mucus integrity and is required to protect the intestinal mucus against excessive bacterial proteolytic degradation (PubMed:35303419). Reaction=a beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl derivative + CMP-N-acetyl-beta-neuraminate = a beta-D-galactosyl- (1->3)-[N-acetyl-alpha-neuraminyl-(2->6)]-N-acetyl-alpha-D- galactosaminyl derivative + CMP + H(+); Xref=Rhea:RHEA:11136, ChEBI:CHEBI:15378, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:133470, ChEBI:CHEBI:140764; EC=2.4.3.3; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11137; Evidence=; Protein modification; protein glycosylation. Golgi apparatus membrane ; Single-pass type II membrane protein Submaxillary gland, mammary gland, spleen and colon. Glycosylated; autosialylated. Belongs to the glycosyltransferase 29 family. Name=Functional Glycomics Gateway - GTase; Note=ST6GalNAc I; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_mou_650"; Golgi membrane ganglioside biosynthetic process alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity Golgi apparatus protein glycosylation sialyltransferase activity oligosaccharide biosynthetic process membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups sialylation uc007mme.1 uc007mme.2 
ENSMUST00000009772.8 Tex15 ENSMUST00000009772.8 testis expressed gene 15 meiosis and synapsis associated (from RefSeq NM_031374.2) ENSMUST00000009772.1 ENSMUST00000009772.2 ENSMUST00000009772.3 ENSMUST00000009772.4 ENSMUST00000009772.5 ENSMUST00000009772.6 ENSMUST00000009772.7 F8VPN2 NM_031374 Q3UPQ6 Q3V162 Q99MV3 TEX15_MOUSE Tex15 uc009lkc.1 uc009lkc.2 uc009lkc.3 Required during spermatogenesis for normal chromosome synapsis and meiotic recombination in germ cells. Necessary for formation of DMC1 and RAD51 foci on meiotic chromosomes, suggesting a specific role in DNA double-stranded break repair (PubMed:18283110). Essential executor of PIWIL4-piRNA pathway directed transposon DNA methylation and silencing in the male embryonic germ cells (PubMed:32381626, PubMed:32719317). PIWIL4-piRNA binds to nascent transposon transcripts and interacts with TEX15, which may in turn recruit the epigenetic silencing machinery to the transposon loci (PubMed:32381626). Not required for piRNA biosynthesis (PubMed:32381626, PubMed:32719317). Interacts with PIWIL4 (PubMed:32719317). Interacts with PIWIL2 (PubMed:32381626). Cytoplasm cleus Event=Alternative splicing; Named isoforms=2; Name=1 ; IsoId=F8VPN2-1; Sequence=Displayed; Name=2 ; IsoId=F8VPN2-2; Sequence=VSP_058101; Detected in testis and ovary, and at lower levels in lung and brain. Highly expressed in embryonic male germ cells at embryonic days 16.5 dpc and 18.5 dpc and expression increases at postnatal day 2.5. Viable with no gross phenotype. Male mice are infertile with significantly reduced testis size, while females are fertile. Severe depletion of germ cells in seminiferous tubules and epididymal tubules, due to meiotic arrest (PubMed:18283110, PubMed:32381626, PubMed:32719317). Male germ cells show derepression of transposable elements (TEs) and severe DNA hypomethylation of TEs (PubMed:32381626, PubMed:32719317). Belongs to the TEX15 family. molecular_function cellular_component nucleus cytoplasm DNA repair cellular response to DNA damage stimulus synapsis synaptonemal complex assembly male meiosis spermatogenesis fertilization regulation of double-strand break repair via homologous recombination cell differentiation male genitalia development regulation of protein localization protein localization to chromosome homeostasis of number of cells within a tissue meiotic cell cycle uc009lkc.1 uc009lkc.2 uc009lkc.3 
ENSMUST00000009774.11 Ppp2cb ENSMUST00000009774.11 protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform, transcript variant 1 (from RefSeq NM_017374.4) ENSMUST00000009774.1 ENSMUST00000009774.10 ENSMUST00000009774.2 ENSMUST00000009774.3 ENSMUST00000009774.4 ENSMUST00000009774.5 ENSMUST00000009774.6 ENSMUST00000009774.7 ENSMUST00000009774.8 ENSMUST00000009774.9 NM_017374 P11082 P62715 PP2AB_MOUSE uc009lkd.1 uc009lkd.2 uc009lkd.3 Catalytic subunit of protein phosphatase 2A (PP2A), a serine/threonine phosphatase involved in the regulation of a wide variety of enzymes, signal transduction pathways, and cellular events. PP2A can modulate the activity of phosphorylase B kinase, casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase. Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:20630; Evidence=; Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA- COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47005; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 manganese ions per subunit. ; PP2A consists of a common heterodimeric core enzyme (composed of a 36 kDa catalytic subunit (subunit C) and a 65 kDa constant regulatory subunit (PR65) (subunit A)) that associates with a variety of regulatory subunits. Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell signaling molecules. Binds PPME1. May indirectly interact with SGO1, most probably through regulatory B56 subunits. Found in a complex with at least ARL2, PPP2CB, PPP2R1A, PPP2R2A, PPP2R5E and TBCD. Interacts with TBCD. Interacts with CTTNBP2NL. Interacts with PTPA. Cytoplasm. Nucleus Chromosome, centromere Cytoplasm, cytoskeleton, spindle pole Note=In prometaphase cells, but not in anaphase cells, localizes at centromeres. During mitosis, also found at spindle poles (By similarity). Reversibly methyl esterified on Leu-309 by leucine carboxyl methyltransferase 1 (Lcmt1) and protein phosphatase methylesterase 1 (Ppme1). Carboxyl methylation influences the affinity of the catalytic subunit for the different regulatory subunits, thereby modulating the PP2A holoenzyme's substrate specificity, enzyme activity and cellular localization (By similarity). Phosphorylation of either threonine (by autophosphorylation- activated protein kinase) or tyrosine results in inactivation of the phosphatase. Auto-dephosphorylation has been suggested as a mechanism for reactivation (By similarity). May be monoubiquitinated by NOSIP. Belongs to the PPP phosphatase family. PP-1 subfamily. protein phosphatase type 2A complex chromosome, centromeric region spindle pole phosphoprotein phosphatase activity protein serine/threonine phosphatase activity protein binding nucleus chromosome cytoplasm cytosol cytoskeleton protein dephosphorylation protein C-terminus binding apoptotic mitochondrial changes response to lead ion regulation of gene expression hydrolase activity response to endoplasmic reticulum stress response to hydrogen peroxide proteasome-mediated ubiquitin-dependent protein catabolic process negative regulation of Ras protein signal transduction response to antibiotic metal ion binding positive regulation of microtubule binding uc009lkd.1 uc009lkd.2 uc009lkd.3 
ENSMUST00000009777.4 G0s2 ENSMUST00000009777.4 G0/G1 switch gene 2 (from RefSeq NM_008059.3) ENSMUST00000009777.1 ENSMUST00000009777.2 ENSMUST00000009777.3 G0S2_MOUSE NM_008059 Q61585 uc007eei.1 uc007eei.2 uc007eei.3 uc007eei.4 Promotes apoptosis by binding to BCL2, hence preventing the formation of protective BCL2-BAX heterodimers. Directly interacts with BCL2; this interaction prevents the formation of the anti-apoptotic BAX-BCL2 complex. Mitochondrion mitochondrion apoptotic process extrinsic apoptotic signaling pathway positive regulation of extrinsic apoptotic signaling pathway uc007eei.1 uc007eei.2 uc007eei.3 uc007eei.4 
ENSMUST00000009789.15 P4ha1 ENSMUST00000009789.15 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide, transcript variant 3 (from RefSeq NM_011030.2) ENSMUST00000009789.1 ENSMUST00000009789.10 ENSMUST00000009789.11 ENSMUST00000009789.12 ENSMUST00000009789.13 ENSMUST00000009789.14 ENSMUST00000009789.2 ENSMUST00000009789.3 ENSMUST00000009789.4 ENSMUST00000009789.5 ENSMUST00000009789.6 ENSMUST00000009789.7 ENSMUST00000009789.8 ENSMUST00000009789.9 NM_011030 P4HA1_MOUSE Q3TEB7 Q60715 Q80T05 Q91VJ7 uc007fdo.1 uc007fdo.2 uc007fdo.3 Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. Reaction=2-oxoglutarate + L-prolyl-[collagen] + O2 = CO2 + succinate + trans-4-hydroxy-L-prolyl-[collagen]; Xref=Rhea:RHEA:18945, Rhea:RHEA- COMP:11676, Rhea:RHEA-COMP:11680, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031, ChEBI:CHEBI:50342, ChEBI:CHEBI:61965; EC=1.14.11.2; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:18946; Evidence=; Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; Note=Binds 1 Fe(2+) ion per subunit.; Name=L-ascorbate; Xref=ChEBI:CHEBI:38290; Evidence=; Inhibited by poly(L-proline). Kinetic parameters: KM=22 uM for 2-oxoglutarate ; Heterotetramer of two alpha-1 chains and two beta chains (P4HB)(the beta chain is the multi-functional PDI), where P4HB plays the role of a structural subunit; this tetramer catalyzes the formation of 4-hydroxyproline in collagen. Endoplasmic reticulum lumen. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q60715-1; Sequence=Displayed; Name=2; Synonyms=alpha(I) ; IsoId=Q60715-2; Sequence=VSP_004505; Expressed at least in brain, heart and lung. Belongs to the P4HA family. procollagen-proline 4-dioxygenase activity iron ion binding mitochondrion endoplasmic reticulum endoplasmic reticulum lumen procollagen-proline 4-dioxygenase complex oxidoreductase activity oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen peptidyl-proline hydroxylation to 4-hydroxy-L-proline collagen fibril organization L-ascorbic acid binding identical protein binding intracellular membrane-bounded organelle metal ion binding dioxygenase activity oxidation-reduction process uc007fdo.1 uc007fdo.2 uc007fdo.3 
ENSMUST00000009790.14 Pla2g12b ENSMUST00000009790.14 phospholipase A2, group XIIB (from RefSeq NM_023530.2) ENSMUST00000009790.1 ENSMUST00000009790.10 ENSMUST00000009790.11 ENSMUST00000009790.12 ENSMUST00000009790.13 ENSMUST00000009790.2 ENSMUST00000009790.3 ENSMUST00000009790.4 ENSMUST00000009790.5 ENSMUST00000009790.6 ENSMUST00000009790.7 ENSMUST00000009790.8 ENSMUST00000009790.9 NM_023530 Pla2g12b Q8VC81 Q8VC81_MOUSE uc007fdq.1 uc007fdq.2 uc007fdq.3 phospholipase A2 activity calcium ion binding extracellular region phospholipid metabolic process lipid catabolic process hydrolase activity arachidonic acid secretion uc007fdq.1 uc007fdq.2 uc007fdq.3 
ENSMUST00000009798.5 Oit3 ENSMUST00000009798.5 oncoprotein induced transcript 3 (from RefSeq NM_010959.2) ENSMUST00000009798.1 ENSMUST00000009798.2 ENSMUST00000009798.3 ENSMUST00000009798.4 Lzp NM_010959 OIT3_MOUSE P97806 Q811T0 Q8C9U1 Q8R4V5 uc007fdr.1 uc007fdr.2 uc007fdr.3 May be involved in hepatocellular function and development. Nucleus envelope Note=Secreted into blood in a truncated form. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8R4V5-1; Sequence=Displayed; Name=2; IsoId=Q8R4V5-2; Sequence=VSP_027484; Liver-specific. Expressed only in the hepatocytes. Expression begins as early as 6.5 dpc and very early in fetal liver (at least from 11.5 dpc). Expression level changes in different developmental stages. Levels decrease to a minimal level at 17.5 dpc and then increase gradually to the maximal level at about 7 days after birth. calcium ion binding nucleus nuclear envelope urate homeostasis uc007fdr.1 uc007fdr.2 uc007fdr.3 
ENSMUST00000009875.5 Kcnd1 ENSMUST00000009875.5 potassium voltage-gated channel, Shal-related family, member 1 (from RefSeq NM_008423.2) ENSMUST00000009875.1 ENSMUST00000009875.2 ENSMUST00000009875.3 ENSMUST00000009875.4 KCND1_MOUSE NM_008423 Q03719 Q8CC68 uc009sms.1 uc009sms.2 uc009sms.3 uc009sms.4 This gene encodes a multipass transmembrane protein that comprises a subunit of voltage-gated rapidly inactivating A-type potassium channels. [provided by RefSeq, May 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK033805.1, SRR1660819.7259.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Pore-forming (alpha) subunit of voltage-gated rapidly inactivating A-type potassium channels. May contribute to I(To) current in the heart and I(Sa) current in neurons. Channel properties are modulated by subunit assembly. Homotetramer or heterotetramer with KCND2 and/or KCND3. Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4. Interacts with DPP10 (By similarity). Membrane; Multi-pass membrane protein. Cell projection, dendrite The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Belongs to the potassium channel family. D (Shal) (TC 1.A.1.2) subfamily. Kv4.1/KCND1 sub-subfamily. ion channel activity voltage-gated ion channel activity voltage-gated potassium channel activity A-type (transient outward) potassium channel activity potassium channel activity ion transport potassium ion transport voltage-gated potassium channel complex membrane integral component of membrane dendrite regulation of ion transmembrane transport cell projection neuronal cell body metal ion binding protein homooligomerization transmembrane transport potassium ion transmembrane transport uc009sms.1 uc009sms.2 uc009sms.3 uc009sms.4 
ENSMUST00000010007.9 Sdhb ENSMUST00000010007.9 succinate dehydrogenase complex, subunit B, iron sulfur (Ip), transcript variant 1 (from RefSeq NM_023374.4) ENSMUST00000010007.1 ENSMUST00000010007.2 ENSMUST00000010007.3 ENSMUST00000010007.4 ENSMUST00000010007.5 ENSMUST00000010007.6 ENSMUST00000010007.7 ENSMUST00000010007.8 NM_023374 Q3TF82 Q9CQA3 Q9DC91 SDHB_MOUSE uc008vnl.1 uc008vnl.2 uc008vnl.3 uc008vnl.4 Iron-sulfur protein (IP) subunit of the succinate dehydrogenase complex (mitochondrial respiratory chain complex II), responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). Reaction=a quinone + succinate = a quinol + fumarate; Xref=Rhea:RHEA:40523, ChEBI:CHEBI:24646, ChEBI:CHEBI:29806, ChEBI:CHEBI:30031, ChEBI:CHEBI:132124; EC=1.3.5.1; Evidence=; Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:190135; Evidence=; Note=Binds 1 [2Fe-2S] cluster. ; Name=[3Fe-4S] cluster; Xref=ChEBI:CHEBI:21137; Evidence=; Note=Binds 1 [3Fe-4S] cluster. ; Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Evidence=; Note=Binds 1 [4Fe-4S] cluster. ; Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1. Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD (By similarity). Interacts with SDHAF1; the interaction is required for iron-sulfur cluster incorporation into SDHB (By similarity). Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side Belongs to the succinate dehydrogenase/fumarate reductase iron-sulfur protein family. nucleoplasm mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) plasma membrane tricarboxylic acid cycle succinate metabolic process succinate dehydrogenase (ubiquinone) activity electron carrier activity aerobic respiration membrane oxidoreductase activity respiratory electron transport chain mitochondrial membrane respiratory chain complex II metal ion binding ubiquinone binding iron-sulfur cluster binding 2 iron, 2 sulfur cluster binding 3 iron, 4 sulfur cluster binding 4 iron, 4 sulfur cluster binding oxidation-reduction process uc008vnl.1 uc008vnl.2 uc008vnl.3 uc008vnl.4 
ENSMUST00000010020.12 Cox4i2 ENSMUST00000010020.12 cytochrome c oxidase subunit 4I2 (from RefSeq NM_053091.2) COX42_MOUSE Cox4b ENSMUST00000010020.1 ENSMUST00000010020.10 ENSMUST00000010020.11 ENSMUST00000010020.2 ENSMUST00000010020.3 ENSMUST00000010020.4 ENSMUST00000010020.5 ENSMUST00000010020.6 ENSMUST00000010020.7 ENSMUST00000010020.8 ENSMUST00000010020.9 NM_053091 Q91W29 uc008ngg.1 uc008ngg.2 Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix. Energy metabolism; oxidative phosphorylation. Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I, COX5A, COX5B, COX6A, COX6B, COX6C, COX7A, COX7B, COX7C, COX8 and NDUFA4, which are encoded in the nuclear genome. The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)). Mitochondrion inner membrane ; Single-pass membrane protein Belongs to the cytochrome c oxidase IV family. cytochrome-c oxidase activity mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex IV mitochondrial electron transport, cytochrome c to oxygen membrane mitochondrial membrane cellular response to hypoxia hydrogen ion transmembrane transport uc008ngg.1 uc008ngg.2 
ENSMUST00000010038.10 Snap47 ENSMUST00000010038.10 synaptosomal-associated protein, 47, transcript variant 2 (from RefSeq NM_144521.3) ENSMUST00000010038.1 ENSMUST00000010038.2 ENSMUST00000010038.3 ENSMUST00000010038.4 ENSMUST00000010038.5 ENSMUST00000010038.6 ENSMUST00000010038.7 ENSMUST00000010038.8 ENSMUST00000010038.9 NM_144521 Q3UNK4 Q8BK87 Q8R570 SNP47_MOUSE uc007jds.1 uc007jds.2 uc007jds.3 May play a role in intracellular membrane fusion. Associates with the BLOC-1 complex. Interacts with BLOC1S6 (By similarity). Forms a complex containing SNAP47, VAMP2 and STX1A. Endomembrane system Cytoplasm, perinuclear region Note=Appears to be exclusively membrane- bound. In primary neurons, widely distributed in both cell bodies and neuronal processes. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8R570-1; Sequence=Displayed; Name=2; IsoId=Q8R570-2; Sequence=VSP_028615, VSP_028616; Ubiquitously expressed with the most abundant expression in the brain. In brain, most highly expressed in the glomerular layer of the olfactory bulb, the cortex, striatum, hippocampus, and colliculi (at protein level). Expressed as early as 10 dpc in developing brain and reaches maximal levels at 18 dpc. Belongs to the SVAP1 family. Sequence=BAC35874.1; Type=Frameshift; Evidence=; SNAP receptor activity cytoplasm plasma membrane exocytosis vesicle fusion endomembrane system postsynaptic density membrane synaptic vesicle priming syntaxin binding dendrite synaptic vesicle membrane BLOC-1 complex SNARE complex synaptic vesicle fusion to presynaptic active zone membrane asymmetric synapse neuronal cell body perinuclear region of cytoplasm long-term synaptic potentiation exocytic insertion of neurotransmitter receptor to postsynaptic membrane glutamatergic synapse vesicle-mediated transport in synapse uc007jds.1 uc007jds.2 uc007jds.3 
ENSMUST00000010044.8 Wnt3a ENSMUST00000010044.8 wingless-type MMTV integration site family, member 3A (from RefSeq NM_009522.3) ENSMUST00000010044.1 ENSMUST00000010044.2 ENSMUST00000010044.3 ENSMUST00000010044.4 ENSMUST00000010044.5 ENSMUST00000010044.6 ENSMUST00000010044.7 NM_009522 P27467 WNT3A_MOUSE Wnt-3a uc007jdp.1 uc007jdp.2 uc007jdp.3 uc007jdp.4 uc007jdp.5 Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (PubMed:26902720). Required for normal embryonic mesoderm development and formation of caudal somites (PubMed:8299937). Required for normal morphogenesis of the developing neural tube (PubMed:8299937). Mediates self-renewal of the stem cells at the bottom on intestinal crypts (in vitro) (PubMed:26902720). Forms a soluble 1:1 complex with AFM; this prevents oligomerization and is required for prolonged biological activity (PubMed:26902720). The complex with AFM may represent the physiological form in body fluids (PubMed:26902720). Homooligomer; disulfide-linked, leading to inactivation (PubMed:25771893). Interacts with APCDD1 and WLS. Component of the Wnt-Fzd-LRP5-LRP6 signaling complex that contains a WNT protein, a FZD protein and LRP5 or LRP6. Interacts directly in the complex with LRP6 (By similarity). Interacts with PORCN (PubMed:10866835). Interacts with glypican GPC3 (By similarity). Interacts with PKD1 (via extracellular domain) (By similarity). P27467; Q61091: Fzd8; NbExp=7; IntAct=EBI-2899665, EBI-6171689; P27467; E9Q612: Ptpro; NbExp=2; IntAct=EBI-2899665, EBI-8183885; P27467; P27467: Wnt3a; NbExp=2; IntAct=EBI-2899665, EBI-2899665; P27467; G3MYZ3: AFM; Xeno; NbExp=3; IntAct=EBI-2899665, EBI-22052138; P27467; P43652: AFM; Xeno; NbExp=3; IntAct=EBI-2899665, EBI-20737924; P27467; O75581: LRP6; Xeno; NbExp=4; IntAct=EBI-2899665, EBI-910915; P27467; A6NFA1: TRABD2B; Xeno; NbExp=2; IntAct=EBI-2899665, EBI-6257471; P27467; Q9Y5W5: WIF1; Xeno; NbExp=8; IntAct=EBI-2899665, EBI-3922719; Secreted, extracellular space, extracellular matrix Secreted Dorsal portion of the neural tube (developing roof plate), and mesenchyme tissue surrounding the umbilical veins. Detected in the dorsal primitive streak region at 8.5 dpc. Detected in the tailbud region and in the developing central nervous system (CNS) at 9.5 dpc. Proteolytic processing by TIKI1 and TIKI2 promotes oxidation and formation of large disulfide-bond oligomers, leading to inactivation of WNT3A. Disulfide bonds have critical and distinct roles in secretion and activity. Loss of each conserved cysteine in WNT3A results in high molecular weight oxidized Wnt oligomers, which are formed through inter-Wnt disulfide bonding. Palmitoleoylation by PORCN is required for efficient binding to frizzled receptors. Palmitoleoylation is required for proper trafficking to cell surface, vacuolar acidification is critical to release palmitoleoylated WNT3A from WLS in secretory vesicles (PubMed:17141155, PubMed:24798332). Depalmitoleoylated by NOTUM, leading to inhibit Wnt signaling pathway, possibly by promoting disulfide bond formation and oligomerization (PubMed:25771893). Gene targeting that leads to the production of a truncated mRNA causes full embryonic lethality at 10.5 to 12.5 dpc. Belongs to the Wnt family. The formation of disulfide-linked oligomers may be an artifact that occurs upon heterologous expression in vitro (PubMed:25771893, PubMed:26902720). Formation of disulfide-linked oligomers is not observed when the protein is coexpressed with AFM (PubMed:26902720). A palmitoylation site was proposed at Cys-77, but it was later shown that this cysteine is engaged in a disulfide bond. osteoblast differentiation in utero embryonic development somitogenesis positive regulation of cytokine production positive regulation of protein phosphorylation heart looping positive regulation of receptor internalization negative regulation of heart induction by canonical Wnt signaling pathway transcription coactivator activity receptor binding frizzled binding protein binding extracellular region extracellular space endoplasmic reticulum lumen signal transduction cell-cell signaling multicellular organism development determination of left/right symmetry axonogenesis axon guidance mesoderm development cell proliferation positive regulation of cell proliferation animal organ morphogenesis anterior/posterior pattern specification cell surface COP9 signalosome assembly positive regulation of gene expression negative regulation of neuron projection development Wnt signaling pathway protein domain specific binding spinal cord association neuron differentiation hippocampus development cell proliferation in forebrain Wnt signaling pathway involved in forebrain neuroblast division dorsal/ventral neural tube patterning neurogenesis hemopoiesis platelet activation neuron differentiation extracellular matrix organization BMP signaling pathway mammary gland development positive regulation of B cell proliferation midbrain development positive regulation of protein binding positive regulation of peptidyl-serine phosphorylation cell proliferation in midbrain cellular protein localization skeletal muscle cell differentiation post-anal tail morphogenesis co-receptor binding inner ear morphogenesis positive regulation of cysteine-type endopeptidase activity involved in apoptotic process cell fate commitment synapse regulation of cell differentiation negative regulation of fat cell differentiation positive regulation of protein kinase activity positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter receptor agonist activity somatic stem cell division positive regulation of mesodermal cell fate specification paraxial mesodermal cell fate commitment positive regulation of skeletal muscle tissue development positive regulation of collateral sprouting in absence of injury negative regulation of axon extension involved in axon guidance negative regulation of neurogenesis regulation of axonogenesis modulation of synaptic transmission regulation of synapse organization positive regulation of sequence-specific DNA binding transcription factor activity canonical Wnt signaling pathway cardiac muscle cell fate commitment positive regulation of protein tyrosine kinase activity positive regulation of dermatome development canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment regulation of microtubule cytoskeleton organization platelet aggregation dopaminergic neuron differentiation axis elongation involved in somitogenesis positive regulation of canonical Wnt signaling pathway calcium ion transmembrane transport via low voltage-gated calcium channel glutamatergic synapse postsynapse to nucleus signaling pathway negative regulation of neuron death positive regulation of protein localization to plasma membrane negative regulation of dopaminergic neuron differentiation positive regulation of core promoter binding regulation of presynapse assembly Wnt-Frizzled-LRP5/6 complex Wnt signalosome positive regulation of cell-cell adhesion mediated by cadherin positive regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation positive regulation of neural precursor cell proliferation positive regulation of hepatocyte proliferation positive regulation of cardiac muscle cell differentiation regulation of RNA biosynthetic process uc007jdp.1 uc007jdp.2 uc007jdp.3 uc007jdp.4 uc007jdp.5 
ENSMUST00000010049.6 Kdsr ENSMUST00000010049.6 3-ketodihydrosphingosine reductase, transcript variant 1 (from RefSeq NM_027534.2) ENSMUST00000010049.1 ENSMUST00000010049.2 ENSMUST00000010049.3 ENSMUST00000010049.4 ENSMUST00000010049.5 Fvt1 Kdsr NM_027534 Q8CII3 Q8CII3_MOUSE uc007cgy.1 uc007cgy.2 uc007cgy.3 uc007cgy.4 Reaction=NADP(+) + sphinganine = 3-oxosphinganine + H(+) + NADPH; Xref=Rhea:RHEA:22640, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:57817, ChEBI:CHEBI:58299, ChEBI:CHEBI:58349; EC=1.1.1.102; Evidence=; Lipid metabolism; sphingolipid metabolism. Sphingolipid metabolism. Belongs to the short-chain dehydrogenases/reductases (SDR) family. endoplasmic reticulum 3-keto-sphinganine metabolic process oxidoreductase activity 3-dehydrosphinganine reductase activity oxidation-reduction process uc007cgy.1 uc007cgy.2 uc007cgy.3 uc007cgy.4 
ENSMUST00000010085.4 Nxf2 ENSMUST00000010085.4 nuclear RNA export factor 2, transcript variant 1 (from RefSeq NM_001289735.1) ENSMUST00000010085.1 ENSMUST00000010085.2 ENSMUST00000010085.3 NM_001289735 NXF2 Nxf2 Q4ZGD8 Q4ZGD8_MOUSE uc009ugv.1 uc009ugv.2 uc009ugv.3 uc009ugv.4 Belongs to the NXF family. nucleic acid binding RNA binding mRNA binding protein binding nucleus nuclear envelope cytoplasm RNA export from nucleus mRNA export from nucleus poly(A)+ mRNA export from nucleus mRNA transport uc009ugv.1 uc009ugv.2 uc009ugv.3 uc009ugv.4 
ENSMUST00000010127.12 Tktl1 ENSMUST00000010127.12 transketolase-like 1 (from RefSeq NM_031379.2) B1AYP0 ENSMUST00000010127.1 ENSMUST00000010127.10 ENSMUST00000010127.11 ENSMUST00000010127.2 ENSMUST00000010127.3 ENSMUST00000010127.4 ENSMUST00000010127.5 ENSMUST00000010127.6 ENSMUST00000010127.7 ENSMUST00000010127.8 ENSMUST00000010127.9 NM_031379 Q684Q5 Q8CDU7 Q99MX0 TKTL1_MOUSE Tktl1 uc009tnx.1 uc009tnx.2 uc009tnx.3 Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate. Reaction=D-glyceraldehyde 3-phosphate + D-sedoheptulose 7-phosphate = aldehydo-D-ribose 5-phosphate + D-xylulose 5-phosphate; Xref=Rhea:RHEA:10508, ChEBI:CHEBI:57483, ChEBI:CHEBI:57737, ChEBI:CHEBI:58273, ChEBI:CHEBI:59776; EC=2.2.1.1; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:10510; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Name=Co(2+); Xref=ChEBI:CHEBI:48828; Evidence=; Note=Binds 1 Mg(2+) ion per subunit. Can also utilize other divalent metal cations, such as Ca(2+), Mn(2+) and Co(2+). ; Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937; Evidence=; Note=Binds 1 thiamine pyrophosphate per subunit. ; Homodimer. Cytoplasm Not expressed in the embryonic neocortex. Belongs to the transketolase family. catalytic activity transketolase activity cellular_component nucleus cytoplasm transferase activity metal ion binding uc009tnx.1 uc009tnx.2 uc009tnx.3 
ENSMUST00000010188.9 Zmynd10 ENSMUST00000010188.9 zinc finger, MYND domain containing 10, transcript variant 1 (from RefSeq NM_053253.4) Blu ENSMUST00000010188.1 ENSMUST00000010188.2 ENSMUST00000010188.3 ENSMUST00000010188.4 ENSMUST00000010188.5 ENSMUST00000010188.6 ENSMUST00000010188.7 ENSMUST00000010188.8 NM_053253 Q3V1P0 Q80W73 Q99ML0 ZMY10_MOUSE uc009rlo.1 uc009rlo.2 uc009rlo.3 Plays a role in axonemal structure organization and motility (PubMed:29601588). Involved in axonemal pre-assembly of inner and outer dynein arms (IDA and ODA, respectively) for proper axoneme building for cilia motility (PubMed:29601588). May act by indirectly regulating transcription of dynein proteins (By similarity). Interacts (via C-terminus) with DNAAF11 (via CS domain); this interaction stabilizes DNAAF11 at the protein level. Interacts (via C- terminus) with DNAL1; this interaction stabilizes DNAL1 at the protein level. Interacts with DNAAF4, HSPA8, IQUB, RUVBL2 and DYNTL5. Cytoplasm Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite Apical cell membrane Dynein axonemal particle Expressed in the testis. Expressed in the tracheal epithelium (PubMed:29601588). Restricted to regions containing motile cilia (PubMed:23891471). Specifically expressed in the ciliated epithelial layer associated with nasal and lung epithelium in 18.5 dpc embryos. Mice neonates exhibit growth retardation dying within 1 month after birth. Show head deformation and situs invertus (heart apex, stomach, liver or spleen). Display lung lobular structures deterioration and collapsed alveolar spaces. Show mucosal congestion in paranasal cavities. Show loss of ciliary motility and axonemal outer and inner dynein arm (IDA and ODA, respectively) components without disruption of ciliogenesis. Belongs to the ZMYND10 family. molecular_function cytoplasm microtubule organizing center cytoskeleton plasma membrane membrane apical plasma membrane centriolar satellite outer dynein arm assembly inner dynein arm assembly motile cilium assembly metal ion binding positive regulation of motile cilium assembly uc009rlo.1 uc009rlo.2 uc009rlo.3 
ENSMUST00000010189.3 Tmem115 ENSMUST00000010189.3 transmembrane protein 115 (from RefSeq NM_019704.2) ENSMUST00000010189.1 ENSMUST00000010189.2 NM_019704 Pl6 Q91VT6 Q9WUH1 TM115_MOUSE Tmem115 uc009rlk.1 uc009rlk.2 uc009rlk.3 May play a role in retrograde transport of proteins from the Golgi to the endoplasmic reticulum. May indirectly play a role in protein glycosylation in the Golgi. Homooligomer. Interacts with COPB1. May interact with LMAN1. Interacts with the COG complex; probably through COG3. Golgi apparatus, Golgi stack membrane ; Multi-pass membrane protein Belongs to the TMEM115 family. Sequence=AAH09099.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; molecular_function nucleus Golgi apparatus protein glycosylation retrograde vesicle-mediated transport, Golgi to ER membrane integral component of membrane Golgi transport complex Golgi cisterna membrane identical protein binding uc009rlk.1 uc009rlk.2 uc009rlk.3 
ENSMUST00000010192.11 Ifrd2 ENSMUST00000010192.11 interferon-related developmental regulator 2 (from RefSeq NM_025903.2) ENSMUST00000010192.1 ENSMUST00000010192.10 ENSMUST00000010192.2 ENSMUST00000010192.3 ENSMUST00000010192.4 ENSMUST00000010192.5 ENSMUST00000010192.6 ENSMUST00000010192.7 ENSMUST00000010192.8 ENSMUST00000010192.9 IFRD2_MOUSE Ifrd2 NM_025903 Q7TSB3 Q9CW96 Q9D8U0 uc009rmd.1 uc009rmd.2 uc009rmd.3 Ribosome-binding protein that acts as an inhibitor of mRNA translation by promoting ribosome inactivation (By similarity). Associates with the P- and E-sites of the ribosome and inserts a C- terminal helix into the mRNA exit channel to preclude translation (By similarity). Associates with ribosomes; promoting ribosome inactivation. Belongs to the IFRD family. molecular_function biological_process uc009rmd.1 uc009rmd.2 uc009rmd.3 
ENSMUST00000010195.14 Hyal1 ENSMUST00000010195.14 hyaluronoglucosaminidase 1, transcript variant 1 (from RefSeq NM_008317.6) B1AV90 ENSMUST00000010195.1 ENSMUST00000010195.10 ENSMUST00000010195.11 ENSMUST00000010195.12 ENSMUST00000010195.13 ENSMUST00000010195.2 ENSMUST00000010195.3 ENSMUST00000010195.4 ENSMUST00000010195.5 ENSMUST00000010195.6 ENSMUST00000010195.7 ENSMUST00000010195.8 ENSMUST00000010195.9 HYAL1_MOUSE NM_008317 O70229 Q8CE62 Q8QZX3 Q8VBW7 Q8VDK0 Q91ZJ9 uc009rlv.1 uc009rlv.2 uc009rlv.3 May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth. Reaction=Random hydrolysis of (1->4)-linkages between N-acetyl-beta-D- glucosamine and D-glucuronate residues in hyaluronate.; EC=3.2.1.35; pH dependence: Optimum pH is 3.5-4.0. ; Secreted Lysosome Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q91ZJ9-1; Sequence=Displayed; Name=2; IsoId=Q91ZJ9-2; Sequence=VSP_015923; Highly expressed in liver, kidney, lung and skin. Detected in embryos of all developmental stages, with high level at the 7 day stage. Belongs to the glycosyl hydrolase 56 family. response to reactive oxygen species catalytic activity hyalurononglucosaminidase activity extracellular region extracellular space cytoplasm lysosome carbohydrate metabolic process inflammatory response transcription factor binding metabolic process response to virus positive regulation of epithelial cell migration hydrolase activity hydrolase activity, acting on glycosyl bonds hyaluronan metabolic process hyaluronan biosynthetic process hyaluronan catabolic process positive regulation of cell growth negative regulation of cell growth cytoplasmic vesicle hyaluranon cable cellular response to platelet-derived growth factor stimulus cellular response to fibroblast growth factor stimulus positive regulation of angiogenesis positive regulation of cell adhesion positive regulation of growth response to antibiotic viral entry into host cell hyaluronan synthase activity positive regulation of epithelial cell proliferation cartilage development embryonic skeletal joint morphogenesis cellular response to interleukin-1 cellular response to tumor necrosis factor cellular response to pH cellular response to UV-B positive regulation of G1/S transition of mitotic cell cycle positive regulation of hyaluranon cable assembly virus receptor activity uc009rlv.1 uc009rlv.2 uc009rlv.3 
ENSMUST00000010198.5 Tusc2 ENSMUST00000010198.5 tumor suppressor 2, mitochondrial calcium regulator (from RefSeq NM_019742.4) ENSMUST00000010198.1 ENSMUST00000010198.2 ENSMUST00000010198.3 ENSMUST00000010198.4 Fus1 Lgcc NM_019742 Pdap2 Q9WVF8 TUSC2_MOUSE uc009rls.1 uc009rls.2 uc009rls.3 Myristoylation is required for tumor suppressor activity. Belongs to the TUSC2 family. natural killer cell differentiation molecular_function mitochondrion phagocytosis inflammatory response interleukin-15 production negative regulation of interleukin-17 production positive regulation of interleukin-10 production cell maturation defense response to Gram-negative bacterium regulation of mitochondrial membrane potential response to defense-related host reactive oxygen species production neutrophil mediated killing of gram-negative bacterium chemokine (C-C motif) ligand 5 production regulation of reactive oxygen species metabolic process uc009rls.1 uc009rls.2 uc009rls.3 
ENSMUST00000010201.9 Nprl2 ENSMUST00000010201.9 NPR2 like, GATOR1 complex subunit (from RefSeq NM_018879.2) ENSMUST00000010201.1 ENSMUST00000010201.2 ENSMUST00000010201.3 ENSMUST00000010201.4 ENSMUST00000010201.5 ENSMUST00000010201.6 ENSMUST00000010201.7 ENSMUST00000010201.8 NM_018879 NPRL2_MOUSE Nprl2 Q9WUE4 uc009rln.1 uc009rln.2 uc009rln.3 uc009rln.4 Catalytic component of the GATOR1 complex, a multiprotein complex that functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway (PubMed:26166573, PubMed:29768191). In response to amino acid depletion, the GATOR1 complex has GTPase activating protein (GAP) activity and strongly increases GTP hydrolysis by RagA/RRAGA (or RagB/RRAGB) within heterodimeric Rag complexes, thereby turning them into their inactive GDP-bound form, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling (By similarity). In the presence of abundant amino acids, the GATOR1 complex is ubiquitinated and inhibited by GATOR2 (By similarity). Within the GATOR1 complex, NPRL2 constitutes the catalytic subunit that mediates the GAP activity (By similarity). Suppresses Src-dependent tyrosine phosphorylation and activation of PDPK1 and its downstream signaling. Down-regulates PDPK1 kinase activity by interfering with tyrosine phosphorylation at 'Tyr- 9', 'Tyr-373' and 'Tyr-376' residues. May act as a tumor suppressor. Suppresses cell growth and enhances sensitivity to various anticancer drugs. Within the GATOR complex, component of the GATOR1 subcomplex, made of DEPDC5, NPRL2 and NPRL3. GATOR1 mediates the strong interaction of the GATOR complex with small GTPases Rag (RagA/RRAGA, RagB/RRAGB, RagC/RRAGC and/or RagD/RRAGD) heterodimers. GATOR1 interacts with GPR155/LYCHOS; interaction takes place in presence of cholesterol and prevents interaction between GATOR1 and KICSTOR. Interacts with PDPK1. Lysosome membrane Note=Localization to lysosomes is mediated by the KICSTOR complex and is amino acid-independent. The arginine finger is critical for the GTPase-activating mechanism. In the presence of abundant amino acids, ubiquitinated at Lys-158 and Lys-357 via 'Lys-6'-linked ubiquitination by the WDR24 component of the GATOR2 complex, thereby inhibiting the GATOR1 complex and promoting mTORC1 activation. Embryonic lethality due to defective fetal liver hematopoiesis (PubMed:26166573). Embryos also display reduced methionine levels (PubMed:26166573). Lysosomal acidification is impaired, leading to defective lysosomal processing of cobalamin and methionine synthase (PubMed:26166573). Conditional deletion in skeletal muscle causes constitutive activation of mTORC1 signaling: muscle fibers are significantly larger and show altered fiber-type composition, with more fast-twitch glycolytic and fewer slow-twitch oxidative fibers (PubMed:29768191). Mice with a conditional deletion in muscle also have altered running behavior and enhanced glucose tolerance (PubMed:29768191). Belongs to the NPR2 family. protein kinase activity GTPase activator activity lysosome lysosomal membrane protein phosphorylation cellular response to nitrogen starvation positive regulation of autophagy membrane negative regulation of TOR signaling negative regulation of kinase activity cellular response to amino acid starvation positive regulation of GTPase activity Iml1 complex regulation of autophagosome assembly uc009rln.1 uc009rln.2 uc009rln.3 uc009rln.4 
ENSMUST00000010205.9 Gnat1 ENSMUST00000010205.9 G protein subunit alpha transducin 1 (from RefSeq NM_008140.3) ENSMUST00000010205.1 ENSMUST00000010205.2 ENSMUST00000010205.3 ENSMUST00000010205.4 ENSMUST00000010205.5 ENSMUST00000010205.6 ENSMUST00000010205.7 ENSMUST00000010205.8 GNAT1_MOUSE Gnat-1 NM_008140 P20612 Q80X34 uc009rmr.1 uc009rmr.2 uc009rmr.3 Functions as a signal transducer for the rod photoreceptor RHO. Required for normal RHO-mediated light perception by the retina (By similarity). Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs), such as the photoreceptor RHO. The alpha chain contains the guanine nucleotide binding site and alternates between an active, GTP- bound state and an inactive, GDP-bound state. Activated RHO promotes GDP release and GTP binding. Signaling is mediated via downstream effector proteins, such as cGMP-phosphodiesterase (By similarity). Heterotrimeric G proteins are composed of 3 subunits alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts with RHO. Interacts with RGS9 and PDE6G (By similarity). Interacts (when myristoylated) with UNC119; interaction is required for localization in sensory neurons (By similarity). Cell projection, cilium, photoreceptor outer segment Membrane ; Peripheral membrane protein Photoreceptor inner segment Note=Localizes mainly in the outer segment in the dark-adapted state, whereas is translocated to the inner part of the photoreceptors in the light-adapted state. During dark- adapted conditions, in the presence of UNC119 mislocalizes from the outer segment to the inner part of rod photoreceptors which leads to decreased photoreceptor damage caused by light. In the retina, expressed in the rod photoreceptors. Belongs to the G-alpha family. G(i/o/t/z) subfamily. nucleotide binding detection of chemical stimulus involved in sensory perception of bitter taste G-protein coupled receptor binding photoreceptor outer segment photoreceptor inner segment GTPase activity protein binding GTP binding cytoplasm heterotrimeric G-protein complex signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-modulating G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger visual perception phototransduction phototransduction, visible light cell proliferation response to light intensity membrane rhodopsin mediated signaling pathway apical plasma membrane guanyl nucleotide binding G-protein beta/gamma-subunit complex binding photoreceptor connecting cilium eye photoreceptor cell development cell projection neuronal cell body metal ion binding response to stimulus detection of light stimulus involved in visual perception sensory perception of umami taste positive regulation of cyclic-nucleotide phosphodiesterase activity retina development in camera-type eye cellular response to electrical stimulus uc009rmr.1 uc009rmr.2 uc009rmr.3 
ENSMUST00000010210.13 Cacna2d2 ENSMUST00000010210.13 calcium channel, voltage-dependent, alpha 2/delta subunit 2, transcript variant 5 (from RefSeq NM_001174050.1) B2RY16 CA2D2_MOUSE ENSMUST00000010210.1 ENSMUST00000010210.10 ENSMUST00000010210.11 ENSMUST00000010210.12 ENSMUST00000010210.2 ENSMUST00000010210.3 ENSMUST00000010210.4 ENSMUST00000010210.5 ENSMUST00000010210.6 ENSMUST00000010210.7 ENSMUST00000010210.8 ENSMUST00000010210.9 Kiaa0558 NM_001174050 Q3TPT9 Q3TSS6 Q6PHS9 Q6REE3 Q8C8R8 Q8CHE9 Q920H5 Q920H6 Q9EQG2 Q9R142 uc009rli.1 uc009rli.2 uc009rli.3 uc009rli.4 The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q- type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) and possibly T-type (CACNA1G). Dimer formed of alpha-2-2 and delta-2 chains; disulfide- linked. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits in a 1:1:1:1 ratio (Probable). Membrane ; Single-pass type I membrane protein Note=Colocalizes with CACNA1A in lipid raft fractions. Event=Alternative splicing; Named isoforms=6; Name=1; Synonyms=Alpha2delta-2a; IsoId=Q6PHS9-1; Sequence=Displayed; Name=2; IsoId=Q6PHS9-2; Sequence=VSP_028061, VSP_028062; Name=3; Synonyms=Alpha2delta-2c; IsoId=Q6PHS9-3; Sequence=VSP_028063; Name=4; Synonyms=Alpha2delta-2b; IsoId=Q6PHS9-4; Sequence=VSP_028061; Name=5; IsoId=Q6PHS9-5; Sequence=VSP_028061, VSP_028062, VSP_028063; Name=6; IsoId=Q6PHS9-6; Sequence=VSP_028062, VSP_028063; Predominantly expressed in brain in a restricted pattern. Also expressed at lower level in kidney and testis Not expressed in lung at any moment of development. In brain, it localizes to sections of P21 brain. Expressed at high level in the cerebellum, with moderate levels in medulla, pons, and striatum. Also expressed in cortex, hippocampus, habenula and nucleus reticularis thalami (nRT). Strongly expressed in cerebellar Purkinje cells. The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch. N-glycosylated. May be proteolytically processed into subunits alpha-2-2 and delta-2 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role. According to PubMed:11306709, it is processed, at least in vitro, while according to PubMed:17052222, it is only poorly processed in vivo. Note=Defects in Cacna2d2 are the cause of ducky phenotype (du). Du mice have spike-wave seizures characteristic of absence epilepsy and ataxia, with accompanying decreased calcium channel current in cerebellar Purkinje cells. Mice exhibit growth retardation, reduced life span, ataxic gait with apoptosis of cerebellar granule cells followed by Purkinje cell depletion, enhanced susceptibility to seizures, and cardiac abnormalities. Binds gabapentin, an antiepileptic drug. Belongs to the calcium channel subunit alpha-2/delta family. Sequence=AAL01651.1; Type=Frameshift; Evidence=; voltage-gated ion channel activity voltage-gated calcium channel activity calcium channel activity voltage-gated calcium channel complex ion transport calcium ion transport neuromuscular junction development regulation of heart contraction membrane integral component of membrane regulation of ion transmembrane transport regulation of multicellular organism growth positive regulation of organ growth metal ion binding muscle fiber development rhythmic synaptic transmission calcium ion transmembrane transport uc009rli.1 uc009rli.2 uc009rli.3 uc009rli.4 
ENSMUST00000010239.6 Slc3a2 ENSMUST00000010239.6 solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2, transcript variant 2 (from RefSeq NM_008577.5) 4F2_MOUSE ENSMUST00000010239.1 ENSMUST00000010239.2 ENSMUST00000010239.3 ENSMUST00000010239.4 ENSMUST00000010239.5 G3UWA6 Mdu1 NM_008577 P10852 Q54AH5 Slc3a2 uc012bib.1 uc012bib.2 uc012bib.3 Acts as a chaperone that facilitates biogenesis and trafficking of functional transporters heterodimers to the plasma membrane. Forms heterodimer with SLC7 family transporters (SLC7A5, SLC7A6, SLC7A7, SLC7A8, SLC7A10 and SLC7A11), a group of amino-acid antiporters (PubMed:9915839, PubMed:10574970, PubMed:11011012, PubMed:10734121). Heterodimers function as amino acids exchangers, the specificity of the substrate depending on the SLC7A subunit. Heterodimers SLC3A2/SLC7A6 or SLC3A2/SLC7A7 mediate the uptake of dibasic amino acids. Heterodimer SLC3A2/SLC7A11 functions as an antiporter by mediating the exchange of extracellular anionic L-cystine and intracellular L-glutamate across the cellular plasma membrane (By similarity). SLC3A2/SLC7A10 translocates small neutral L- and D-amino acids across the plasma membrane (By similarity). SLC3A2/SLC75 or SLC3A2/SLC7A8 translocates neutral amino acids with broad specificity, thyroid hormones and L-DOPA. SLC3A2 is essential for plasma membrane localization, stability, and the transport activity of SLC7A5 and SLC7A8. When associated with LAPTM4B, the heterodimer SLC7A5 is recruited to lysosomes to promote leucine uptake into these organelles, and thereby mediates mTORC1 activation. Modulates integrin-related signaling and is essential for integrin-dependent cell spreading, migration and tumor progression (By similarity). Disulfide-linked heterodimer with a non-glycosylated light chain (SLC7A5, SLC7A6, SLC7A7, SLC7A8, SLC7A10 or SLC7A11) (PubMed:9915839, PubMed:10574970, PubMed:11011012, PubMed:10734121). Interacts with TLCD3A/CT120 and ICAM1. Constitutively and specifically associates with beta-1 integrins (alpha-2/beta-1, alpha-3/beta-1, alpha-5/beta-1 and alpha-6/beta-1), but minimally with alpha-4/beta-1. Interacts with LAPTM4B; recruits SLC3A2 and SLC7A5 to lysosomes to promote leucine uptake into these organelles and is required for mTORC1 activation (By similarity). Apical cell membrane Cell membrane ; Single-pass type II membrane protein Cell junction Lysosome membrane Melanosome Basolateral cell membrane Note=Localized at the plasma membrane when associated with SLC7A5 or SLC7A8. Localized to the apical membrane of placental syncytiotrophoblastic cells. Recruited to lysosomes by LAPTM4B (By similarity). Located selectively at cell-cell adhesion sites (PubMed:9915839). Colocalized with SLC7A8/LAT2 at the basolateral membrane of kidney proximal tubules and small intestine epithelia. Expressed in both luminal and abluminal membranes of brain capillary endothelial cells (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P10852-1; Sequence=Displayed; Name=2; IsoId=P10852-2; Sequence=VSP_054953; Detected on the surface of embryonic epithelial cells in the epidermis, thymus, kidney, intestine, brain choroid plexus, and in retina. Detected in adult and embryonic brain, spleen, kidney, intestine and liver, and in adult testis (at protein level) (PubMed:9915839). Observed in all adult tissues tested with strongest expression in kidney, small intestine, spleen, thymus and liver (PubMed:9915839). Moderate expression in brain, stomach, heart, testis, lung, skin, pancreas and skeletal muscle. In brain expressed on capillary endothelia in cerebral cortex. Strong expression in the liver of 14 dpc embryo and in brain, spleen, liver, kidney and intestine of an 18 dpc embryo. Expression induced by concanavalin-A stimulation. Induced during cell activation but is subsequently maintained at constant levels throughout the cell cycle in exponentially growing cells. Phosphorylation on Ser-300 or Ser-302 and on Ser-420 by ecto- protein kinases favors heterotypic cell-cell interactions. N-glycosylated; N-glycosylation is crucial for trafficking and stability of SLC3A2 to the plasma membrane. Embryonically lethal between 3.5 and 9.5 dpc. Belongs to the SLC3A transporter family. Sequence=BAE36291.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; double-stranded RNA binding catalytic activity protein binding nucleus lysosome lysosomal membrane cytosol plasma membrane carbohydrate metabolic process amino acid transport cell surface neutral amino acid transmembrane transporter activity neutral amino acid transport tryptophan transport membrane integral component of membrane apical plasma membrane cell junction melanosome response to exogenous dsRNA synapse L-leucine import into cell amino acid transport complex uc012bib.1 uc012bib.2 uc012bib.3 
ENSMUST00000010241.14 Nxf1 ENSMUST00000010241.14 nuclear RNA export factor 1, transcript variant 1 (from RefSeq NM_016813.2) ENSMUST00000010241.1 ENSMUST00000010241.10 ENSMUST00000010241.11 ENSMUST00000010241.12 ENSMUST00000010241.13 ENSMUST00000010241.2 ENSMUST00000010241.3 ENSMUST00000010241.4 ENSMUST00000010241.5 ENSMUST00000010241.6 ENSMUST00000010241.7 ENSMUST00000010241.8 ENSMUST00000010241.9 NM_016813 NXF1_MOUSE O88985 Q3TJA5 Q99JX7 Tap uc008gmr.1 uc008gmr.2 uc008gmr.3 Involved in the nuclear export of mRNA species bearing retroviral constitutive transport elements (CTE) and in the export of mRNA from the nucleus to the cytoplasm (TAP/NFX1 pathway). The NXF1- NXT1 heterodimer is involved in the export of HSP70 mRNA in conjunction with ALYREF/THOC4 and THOC5 components of the TREX complex. ALYREF/THOC4-bound mRNA is thought to be transferred to the NXF1-NXT1 heterodimer for export. Also involved in nuclear export of m6A- containing mRNAs: interaction between SRSF3 and YTHDC1 facilitates m6A- containing mRNA-binding to both SRSF3 and NXF1, promoting mRNA nuclear export. Heterodimer (via NTF2 domain) with NXT1 (By similarity). The formation of NXF1-NXT1 heterodimers is required for the NXF1-mediated nuclear mRNA export (By similarity). Forms a complex with RANBP2/NUP358, NXT1 and RANGAP1 (By similarity). Associates with the exon junction complex (EJC) (PubMed:12093754). Associates with the transcription/export (TREX) complex (By similarity). Found in a mRNA complex with UPF3A and UPF3B (By similarity). Found in a post-splicing complex with RBM8A, UPF1, UPF2, UPF3A, UPF3B and RNPS1 (By similarity). Interacts (via N-terminus) with DHX9 (via N-terminus); this interaction is direct and negatively regulates NXF1-mediated nuclear export of constitutive transport element (CTE)-containing cellular mRNAs (By similarity). Interacts with FYTTD1/UIF (By similarity). Interacts with EIF4A3 (By similarity). Interacts with NUP42 (By similarity). Interacts with ALYREF/THOC4 (PubMed:10786854). Interacts with CHTOP (By similarity). Interacts with FRG1 (via N-terminus) (By similarity). Interacts with LUZP4 (By similarity). Interacts with FMR1; the interaction occurs in a mRNA-dependent and polyribosomes-independent manner in the nucleus (By similarity). Interacts with CPSF6 (via N- terminus); this interaction is direct (By similarity). Interacts with RBM15 (By similarity). Interacts with RBM15B (By similarity). Interacts with MCM3AP; this interaction is not mediated by RNA (By similarity). Interacts with DDX3X (via C-terminus); this interaction may be partly involved in DDX3X nuclear export and in NXF1 localization to stress granules. Interacts with PABPC1/PABP1 (By similarity). Nucleus, nucleoplasm Nucleus speckle Cytoplasm Nucleus, nuclear pore complex Nucleus envelope Cytoplasm, Stress granule Note=Localized predominantly in the nucleoplasm and at both the nucleoplasmic and cytoplasmic faces of the nuclear pore complex. Shuttles between the nucleus and the cytoplasm. Travels to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA. The association with the TREX complex seems to occur in regions surrounding nuclear speckles known as perispeckles. Nucleus; nuclear rim. Expressed ubiquitously. The minimal CTE binding domain consists of an RNP-type RNA binding domain (RBD) and leucine-rich repeats. The nucleoporin binding domain consists of a NTF2 domain (also called NTF2-like domain) and a TAP-C domain (also called UBA-like domain). It has 2 nucleoporin-FG-repeats binding sites (one in the NTF2 and the other in the TAP-C domain) which contribute to nucleoporin association and act synergistically to export cellular mRNAs. The NTF2 domain is functional only in the presence of NXT1 and is essential for the export of mRNA from the nucleus. It inhibits RNA binding activity through an intramolecular interaction with the N- terminal RNA binding domain (RBD); the inhibition is removed by an association with the TREX complex, specifically involving ALYREF/THOC4 and THOC5. The TAP-C domain mediates direct interactions with nucleoporin- FG-repeats and is necessary and sufficient for localization of NXF1 to the nuclear rim. The conserved loop 594-NWD-596 of the TAP-C domain has a critical role in the interaction with nucleoporins. The leucine-rich repeats are essential for the export of mRNA from the nucleus. The RNA-binding domain is a non-canonical RNP-type domain. Belongs to the NXF family. transcription export complex nucleic acid binding RNA binding mRNA binding protein binding nucleus nuclear pore nucleoplasm cytoplasm RNA export from nucleus mRNA export from nucleus nuclear speck poly(A)+ mRNA export from nucleus nuclear inclusion body mRNA transport uc008gmr.1 uc008gmr.2 uc008gmr.3 
ENSMUST00000010248.4 Tmem223 ENSMUST00000010248.4 transmembrane protein 223 (from RefSeq NM_025791.1) ENSMUST00000010248.1 ENSMUST00000010248.2 ENSMUST00000010248.3 NM_025791 Q9CQE2 TM223_MOUSE Tmem223 uc008gms.1 uc008gms.2 Mitochondrial ribosome-associated protein involved in the first steps of cytochrome c oxidase complex (complex IV) biogenesis. Stimulates the translation of MT-CO1 mRNA and is a constituent of early MT-CO1 assembly intermediates. Associates with the mitochondrial ribosome. Mitochondrion inner membrane ; Multi-pass membrane protein Belongs to the TMEM223 family. molecular_function mitochondrion nervous system development membrane integral component of membrane uc008gms.1 uc008gms.2 
ENSMUST00000010249.7 Tmem179b ENSMUST00000010249.7 transmembrane protein 179B, transcript variant 1 (from RefSeq NM_026325.3) ENSMUST00000010249.1 ENSMUST00000010249.2 ENSMUST00000010249.3 ENSMUST00000010249.4 ENSMUST00000010249.5 ENSMUST00000010249.6 NM_026325 Q9CY24 Q9D8L7 T179B_MOUSE uc008gmt.1 uc008gmt.2 uc008gmt.3 uc008gmt.4 Membrane ; Multi-pass membrane protein Belongs to the TMEM179 family. molecular_function nucleolus biological_process membrane integral component of membrane nuclear speck uc008gmt.1 uc008gmt.2 uc008gmt.3 uc008gmt.4 
ENSMUST00000010250.4 Slc22a6 ENSMUST00000010250.4 solute carrier family 22 (organic anion transporter), member 6 (from RefSeq NM_008766.3) ENSMUST00000010250.1 ENSMUST00000010250.2 ENSMUST00000010250.3 NM_008766 Nkt Oat1 Q61185 Q8VC69 S22A6_MOUSE Slc22a6 uc008gme.1 uc008gme.2 uc008gme.3 uc008gme.4 Secondary active transporter that functions as a Na(+)- independent organic anion (OA)/dicarboxylate antiporter where the uptake of one molecule of OA into the cell is coupled with an efflux of one molecule of intracellular dicarboxylate such as 2-oxoglutarate or glutarate (PubMed:15944205). Mediates the uptake of OA across the basolateral side of proximal tubule epithelial cells, thereby contributing to the renal elimination of endogenous OA from the systemic circulation into the urine (By similarity). Functions as a biopterin transporters involved in the uptake and the secretion of coenzymes tetrahydrobiopterin (BH4), dihydrobiopterin (BH2) and sepiapterin to urine, thereby determining baseline levels of blood biopterins (By similarity). Transports prostaglandin E2 (PGE2) and prostaglandin F2-alpha (PGF2-alpha) and may contribute to their renal excretion (By similarity). Involved in the transport of neuroactive tryptophan metabolites kynurenate (KYNA) and xanthurenate (XA) (PubMed:15944205). May transport glutamate. Also involved in the disposition of uremic toxins and potentially toxic xenobiotics by the renal organic anion secretory pathway, helping reduce their undesired toxicological effects on the body (By similarity). Uremic toxins include the indoxyl sulfate (IS), hippurate/N-benzoylglycine (HA), indole acetate (IA) and 3-carboxy-4- methyl-5-propyl-2- furanpropionate(CMPF) and urate (By similarity). Xenobiotics include the mycotoxin ochratoxin (OTA) (By similarity). May also contribute to the transport of organic compounds in testes across the blood-testis- barrier (By similarity). Reaction=(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin(out) + a dicarboxylate(in) = (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin(in) + a dicarboxylate(out); Xref=Rhea:RHEA:76071, ChEBI:CHEBI:28965, ChEBI:CHEBI:59560; Evidence=; Reaction=a dicarboxylate(in) + L-erythro-7,8-dihydrobiopterin(out) = a dicarboxylate(out) + L-erythro-7,8-dihydrobiopterin(in); Xref=Rhea:RHEA:76075, ChEBI:CHEBI:28965, ChEBI:CHEBI:43029; Evidence=; Reaction=a dicarboxylate(in) + L-sepiapterin(out) = a dicarboxylate(out) + L-sepiapterin(in); Xref=Rhea:RHEA:76079, ChEBI:CHEBI:28965, ChEBI:CHEBI:194527; Evidence=; Reaction=a dicarboxylate(in) + prostaglandin F2alpha(out) = a dicarboxylate(out) + prostaglandin F2alpha(in); Xref=Rhea:RHEA:76119, ChEBI:CHEBI:28965, ChEBI:CHEBI:57404; Evidence=; Reaction=a dicarboxylate(in) + prostaglandin E2(out) = a dicarboxylate(out) + prostaglandin E2(in); Xref=Rhea:RHEA:76123, ChEBI:CHEBI:28965, ChEBI:CHEBI:606564; Evidence=; Reaction=3',5'-cyclic AMP(out) + a dicarboxylate(in) = 3',5'-cyclic AMP(in) + a dicarboxylate(out); Xref=Rhea:RHEA:76127, ChEBI:CHEBI:28965, ChEBI:CHEBI:58165; Evidence=; Reaction=3',5'-cyclic GMP(out) + a dicarboxylate(in) = 3',5'-cyclic GMP(in) + a dicarboxylate(out); Xref=Rhea:RHEA:76131, ChEBI:CHEBI:28965, ChEBI:CHEBI:57746; Evidence=; Reaction=a dicarboxylate(in) + urate(out) = a dicarboxylate(out) + urate(in); Xref=Rhea:RHEA:76135, ChEBI:CHEBI:17775, ChEBI:CHEBI:28965; Evidence=; Reaction=glutarate(in) + kynurenate(out) = glutarate(out) + kynurenate(in); Xref=Rhea:RHEA:75999, ChEBI:CHEBI:30921, ChEBI:CHEBI:58454; Evidence=; Reaction=(indol-3-yl)acetate(out) + a dicarboxylate(in) = (indol-3- yl)acetate(in) + a dicarboxylate(out); Xref=Rhea:RHEA:75983, ChEBI:CHEBI:28965, ChEBI:CHEBI:30854; Evidence=; Reaction=a dicarboxylate(in) + indoxyl sulfate(out) = a dicarboxylate(out) + indoxyl sulfate(in); Xref=Rhea:RHEA:75987, ChEBI:CHEBI:28965, ChEBI:CHEBI:144643; Evidence=; Reaction=a dicarboxylate(in) + N-benzoylglycine(out) = a dicarboxylate(out) + N-benzoylglycine(in); Xref=Rhea:RHEA:75991, ChEBI:CHEBI:28965, ChEBI:CHEBI:606565; Evidence=; Reaction=3-carboxy-4-methyl-5-propyl-2-furanpropanoate(out) + a dicarboxylate(in) = 3-carboxy-4-methyl-5-propyl-2-furanpropanoate(in) + a dicarboxylate(out); Xref=Rhea:RHEA:75995, ChEBI:CHEBI:28965, ChEBI:CHEBI:194524; Evidence=; Basolateral cell membrane ulti-pass membrane protein Basal cell membrane ; Multi-pass membrane protein Note=Localized to the basolateral side of proximal convoluted tubules corresponding to tubule segments S1 and S2. Expressed in kidney (PubMed:9045672, PubMed:9880528, PubMed:15944205). In kidney, restricted to the proximal convoluted tubule (representing S1 and S2 segments) (PubMed:9045672, PubMed:15944205). In brain, expressed in neurons of the cortex cerebri and hippocampus as well as in the ependymal cell layer of the choroid plexus (PubMed:9045672, PubMed:15944205). Developmentally regulated with significant expression beginning at 18 dpc and rising just before birth. Multiple cysteine residues are necessary for proper targeting to the plasma membrane. Glycosylated. Glycosylation is necessary for proper targeting of the transporter to the plasma membrane. Involved in the renal transport of a variety of drugs with well-known nephrotoxic potential, therefore may play a role in the etiology of the drug-associated nephrotoxicity (By similarity). Uptakes the diagnostic agent PAH/para-aminohippurate and clinically used drugs (PubMed:9045672, PubMed:9880528, PubMed:10744714, PubMed:14979872, PubMed:14749323). Mediates the bidirectional transport of PAH/para- aminohippurate (By similarity). Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. inorganic anion exchanger activity plasma membrane integral component of plasma membrane caveola anion transport organic anion transmembrane transporter activity anion:anion antiporter activity sodium-independent organic anion transmembrane transporter activity inorganic anion transport organic anion transport alpha-ketoglutarate transport membrane integral component of membrane basolateral plasma membrane transmembrane transporter activity chloride ion binding response to methotrexate macromolecular complex protein homodimerization activity sodium-independent organic anion transport protein homooligomerization transmembrane transport renal tubular secretion anion transmembrane transport uc008gme.1 uc008gme.2 uc008gme.3 uc008gme.4 
ENSMUST00000010267.10 Slc47a1 ENSMUST00000010267.10 solute carrier family 47, member 1 (from RefSeq NM_026183.5) ENSMUST00000010267.1 ENSMUST00000010267.2 ENSMUST00000010267.3 ENSMUST00000010267.4 ENSMUST00000010267.5 ENSMUST00000010267.6 ENSMUST00000010267.7 ENSMUST00000010267.8 ENSMUST00000010267.9 Mate1 NM_026183 Q5SS45 Q8K0H1 Q9CQ64 S47A1_MOUSE uc007jhi.1 uc007jhi.2 uc007jhi.3 uc007jhi.4 Multidrug efflux pump that functions as a H(+)/organic cation antiporter (PubMed:16641166, PubMed:19332510). Plays a physiological role in the excretion of cationic compounds including endogenous metabolites, drugs, toxins through the kidney and liver, into urine and bile respectively (By similarity). Mediates the efflux of endogenous compounds such as creatinine, vitamin B1/thiamine, agmatine and estrone-3-sulfate (By similarity). May also contribute to regulate the transport of cationic compounds in testis across the blood-testis- barrier (By similarity). Reaction=H(+)(in) + thiamine(out) = H(+)(out) + thiamine(in); Xref=Rhea:RHEA:71271, ChEBI:CHEBI:15378, ChEBI:CHEBI:18385; Evidence=; Reaction=estrone 3-sulfate(in) + H(+)(out) = estrone 3-sulfate(out) + H(+)(in); Xref=Rhea:RHEA:72139, ChEBI:CHEBI:15378, ChEBI:CHEBI:60050; Evidence=; Reaction=creatinine(in) + H(+)(out) = creatinine(out) + H(+)(in); Xref=Rhea:RHEA:72183, ChEBI:CHEBI:15378, ChEBI:CHEBI:16737; Evidence=; Reaction=agmatine(in) + H(+)(out) = agmatine(out) + H(+)(in); Xref=Rhea:RHEA:72127, ChEBI:CHEBI:15378, ChEBI:CHEBI:58145; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:72128; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:72129; Evidence=; Kinetic parameters: KM=0.41 mM for TEA ; Vmax=0.6 nmol/min/mg enzyme toward TEA ; pH dependence: Optimum pH is 8.0-8.5. Active from pH 6 to 8.5. ; Cell membrane ; Multi-pass membrane protein Apical cell membrane ; Multi-pass membrane protein Note=Localizes to the plasma membrane; at the brush border membranes of the proximal tubules (kidney) and at the bile caniculi (liver). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8K0H1-1; Sequence=Displayed; Name=2; IsoId=Q8K0H1-2; Sequence=VSP_029906, VSP_029907; Predominantly expressed in kidney and liver (PubMed:24961373). Also expressed in various cells, including brain glia-like cells and capillaries, pancreatic duct cells, urinary bladder epithelium, adrenal gland cortex, heart, stomach, small intestine, thyroid gland, testes, alpha cells of the islets of Langerhans, Leydig cells, and vitamin A-storing Ito cells. Expressed in heart, stomach, small intestine, bladder, thyroid gland, adrenal gland and testes (at protein level). Deficient mice are viable and fertile without any overt phenotypical or histological alterations. However, mice exhibit increased blood urea nitrogen, increased circulating creatinine, and abnormal metformin pharmacokinetics, including increased plasma and tissue metformin concentration with decreased kidney and liver metformin clearance. Mediates the efflux of cationic compounds such as the model cations, tetraethylammonium (TEA), the neurotoxin 1-methyl-4- phenylpyridinium (MPP), the platinum-based drugs cisplatin and oxaliplatin, the drugs procainamide, acyclovir and topotecan, or weak bases that are positively charged at physiological pH, such as cimetidine or the antidiabetic drug metformin. Belongs to the multi antimicrobial extrusion (MATE) (TC 2.A.66.1) family. Sequence=BC031436; Type=Frameshift; Evidence=; plasma membrane cation transport drug transmembrane transport antiporter activity organic cation transport drug transport membrane integral component of membrane vesicle amide transport amide transmembrane transporter activity xenobiotic transport xenobiotic transporter activity transmembrane transport uc007jhi.1 uc007jhi.2 uc007jhi.3 uc007jhi.4 
ENSMUST00000010278.12 Wdr77 ENSMUST00000010278.12 WD repeat domain 77 (from RefSeq NM_027432.3) ENSMUST00000010278.1 ENSMUST00000010278.10 ENSMUST00000010278.11 ENSMUST00000010278.2 ENSMUST00000010278.3 ENSMUST00000010278.4 ENSMUST00000010278.5 ENSMUST00000010278.6 ENSMUST00000010278.7 ENSMUST00000010278.8 ENSMUST00000010278.9 MEP50_MOUSE Mep50 NM_027432 Q3TFJ1 Q8BSH8 Q99J09 Q9CZY5 Wdr77 uc008qvp.1 uc008qvp.2 uc008qvp.3 Non-catalytic component of the methylosome complex, composed of PRMT5, WDR77 and CLNS1A, which modifies specific arginines to dimethylarginines in several spliceosomal Sm proteins and histones (By similarity). This modification targets Sm proteins to the survival of motor neurons (SMN) complex for assembly into small nuclear ribonucleoprotein core particles (By similarity). Might play a role in transcription regulation (By similarity). The methylosome complex also methylates the Piwi proteins (PIWIL1, PIWIL2 and PIWIL4), methylation of Piwi proteins being required for the interaction with Tudor domain- containing proteins and subsequent localization to the meiotic nuage (PubMed:19584108). Substrate-recognition component of the DCX(WDR77) complex, which mediates ubiquitination and degradation of Irgm1 in intestinal cells. Component of the methylosome complex composed of PRMT5, WDR77 and CLNS1A (By similarity). Found in a complex composed of PRMT5, WDR77 and RIOK1 (By similarity). RIOK1 and CLNS1A bound directly to PRMT5 at the same binding site, in a mutually exclusive manner, which allows the recruitment of distinct methylation substrates, such as nucleolin/NCL and Sm proteins, respectively (By similarity). Found in a complex with the component of the methylosome, PRMT5, CLNS1A, WDR77, PRMT1 and ERH (By similarity). Directly interacts with PRMT5, as well as with several Sm proteins, including SNRPB and SNRPD2 and, more weakly, SNRPD3 and SNRPE (By similarity). Forms a compact hetero-octamer with PRMT5, decorating the outer surface of a PRMT5 tetramer (By similarity). Interacts with SUZ12 and histone H2A/H2AC20, but not with histones H2B, H3 nor H4 (PubMed:16712789). Interacts with CTDP1 and LSM11 (By similarity). Interacts with APEX1, AR and NKX3-1 (By similarity). Interacts with CHTOP (By similarity). Interacts with FAM47E (By similarity). Component of the DCX(WDR77) complex, composed of Cul4b, Ddb1, Wdr77 and Rbx1 (PubMed:35197566). Interacts with TSC22D2 (By similarity). Nucleus Cytoplasm protein binding nucleus nucleoplasm cytoplasm Golgi apparatus cytosol regulation of transcription from RNA polymerase II promoter positive regulation of cell proliferation negative regulation of cell proliferation methyl-CpG binding ligand-dependent nuclear receptor transcription coactivator activity methylosome secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development negative regulation of epithelial cell proliferation involved in prostate gland development positive regulation of nucleic acid-templated transcription uc008qvp.1 uc008qvp.2 uc008qvp.3 
ENSMUST00000010279.10 Tmigd3 ENSMUST00000010279.10 transmembrane and immunoglobulin domain containing 3, transcript variant 2 (from RefSeq NM_027025.4) ENSMUST00000010279.1 ENSMUST00000010279.2 ENSMUST00000010279.3 ENSMUST00000010279.4 ENSMUST00000010279.5 ENSMUST00000010279.6 ENSMUST00000010279.7 ENSMUST00000010279.8 ENSMUST00000010279.9 G3X8R9 NM_027025 Q9DAR9 TMIG3_MOUSE uc008qvh.1 uc008qvh.2 uc008qvh.3 uc008qvh.4 uc008qvh.5 This gene encodes a transmembrane and immunoglobulin domain-containing protein. Alternative splicing results in multiple transcript variants, one of which shares its 3' terminal exon with that of the overlapping adenosine A3 receptor gene (GeneID:11542). [provided by RefSeq, Nov 2014]. Membrane ; Single- pass type I membrane protein membrane integral component of membrane uc008qvh.1 uc008qvh.2 uc008qvh.3 uc008qvh.4 uc008qvh.5 
ENSMUST00000010286.8 Tnfrsf13b ENSMUST00000010286.8 tumor necrosis factor receptor superfamily, member 13b, transcript variant 1 (from RefSeq NM_021349.3) ENSMUST00000010286.1 ENSMUST00000010286.2 ENSMUST00000010286.3 ENSMUST00000010286.4 ENSMUST00000010286.5 ENSMUST00000010286.6 ENSMUST00000010286.7 NM_021349 Q9DBZ3 Q9ET35 TR13B_MOUSE Taci uc007jha.1 uc007jha.2 uc007jha.3 Receptor for TNFSF13/APRIL and TNFSF13B/TALL1/BAFF/BLYS that binds both ligands with similar high affinity. Mediates calcineurin- dependent activation of NF-AT, as well as activation of NF-kappa-B and AP-1. Involved in the stimulation of B- and T-cell function and the regulation of humoral immunity (By similarity). Binds TRAF2, TRAF5 and TRAF6. Binds the NH2-terminal domain of CAMLG with its C-terminus (By similarity). Membrane ; Single-pass type III membrane protein B cell homeostasis hematopoietic progenitor cell differentiation adaptive immune response immune system process integral component of plasma membrane external side of plasma membrane membrane integral component of membrane negative regulation of B cell proliferation uc007jha.1 uc007jha.2 uc007jha.3 
ENSMUST00000010298.7 Spire2 ENSMUST00000010298.7 spire type actin nucleation factor 2 (from RefSeq NM_172287.2) ENSMUST00000010298.1 ENSMUST00000010298.2 ENSMUST00000010298.3 ENSMUST00000010298.4 ENSMUST00000010298.5 ENSMUST00000010298.6 NM_172287 Q8K1S6 Q8R0R2 SPIR2_MOUSE spir-2 uc009nvj.1 uc009nvj.2 uc009nvj.3 Acts as an actin nucleation factor, remains associated with the slow-growing pointed end of the new filament (PubMed:21620703, PubMed:21983562). Involved in intracellular vesicle transport along actin fibers, providing a novel link between actin cytoskeleton dynamics and intracellular transport (PubMed:21983562). Required for asymmetric spindle positioning and asymmetric cell division during oocyte meiosis (PubMed:21620703). Required for normal formation of the cleavage furrow and for polar body extrusion during female germ cell meiosis (PubMed:21620703). Also acts in the nucleus: together with SPIRE1 and SPIRE2, promotes assembly of nuclear actin filaments in response to DNA damage in order to facilitate movement of chromatin and repair factors after DNA damage (By similarity). Cytoplasm, cytoskeleton Cytoplasm, cytosol Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasmic vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side Note=Detected at the cleavage furrow during asymmetric oocyte division and polar body extrusion. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8K1S6-1; Sequence=Displayed; Name=2; IsoId=Q8K1S6-2; Sequence=VSP_031573; Detected in oocytes. Binds to actin monomers via the WH2 domain. The Spir-box targets binding to intracellular membrane structures. Belongs to the spire family. molecular_function actin binding cytoplasm cytosol cytoskeleton plasma membrane cell cortex protein transport membrane vesicle-mediated transport actin cytoskeleton organization cytoplasmic vesicle membrane cytoplasmic vesicle cleavage furrow formation polar body extrusion after meiotic divisions actin nucleation intracellular transport establishment of meiotic spindle localization formin-nucleated actin cable assembly positive regulation of double-strand break repair cleavage furrow uc009nvj.1 uc009nvj.2 uc009nvj.3 
ENSMUST00000010348.7 Fdx2 ENSMUST00000010348.7 ferredoxin 2, transcript variant 5 (from RefSeq NR_157204.1) ENSMUST00000010348.1 ENSMUST00000010348.2 ENSMUST00000010348.3 ENSMUST00000010348.4 ENSMUST00000010348.5 ENSMUST00000010348.6 FDX2_MOUSE Fdx1l Fdx2 NR_157204 Q6P8M0 Q9CPW2 Q9CV00 uc009okb.1 uc009okb.2 uc009okb.3 Electron donor, of the core iron-sulfur cluster (ISC) assembly complex, that acts to reduce the persulfide into sulfide during [2Fe-2S] clusters assembly on the scaffolding protein ISCU (By similarity). The core iron-sulfur cluster (ISC) assembly complex is involved in the de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. This process is initiated by the cysteine desulfurase complex (NFS1:LYRM4:NDUFAB1) that produces persulfide which is delivered on the scaffold protein ISCU in a FXN-dependent manner. Then this complex is stabilized by FDX2 which provides reducing equivalents to accomplish the [2Fe-2S] cluster assembly. Finally, the [2Fe-2S] cluster is transferred from ISCU to chaperone proteins, including HSCB, HSPA9 and GLRX5 (By similarity). Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:190135; Evidence=; Note=Binds 1 [2Fe-2S] cluster. ; Component of the mitochondrial core iron-sulfur cluster (ISC) complex composed of NFS1, LYRM4, NDUFAB1, ISCU, FXN, and FDX2; this complex is an heterohexamer containing two copies of each monomer. Form an heterodimer complex with NFS1. Interacts (in both their reduced and oxidized states) with the cysteine desulfurase (NFS1:LYRM4) complex; this interaction stimulates cysteine desulfurase activity, and serves as a reductant for Fe-S cluster assembly. Mitochondrion Mitochondrion matrix Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CPW2-1; Sequence=Displayed; Name=2; IsoId=Q9CPW2-2; Sequence=VSP_032498; Belongs to the adrenodoxin/putidaredoxin family. Sequence=BAB26771.1; Type=Frameshift; Evidence=; mitochondrion mitochondrial matrix biological_process electron carrier activity electron transport chain metal ion binding iron-sulfur cluster binding 2 iron, 2 sulfur cluster binding oxidation-reduction process uc009okb.1 uc009okb.2 uc009okb.3 
ENSMUST00000010421.7 Bltp2 ENSMUST00000010421.7 bridge-like lipid transfer protein family member 2 (from RefSeq NM_001002004.2) BLTP2_MOUSE ENSMUST00000010421.1 ENSMUST00000010421.2 ENSMUST00000010421.3 ENSMUST00000010421.4 ENSMUST00000010421.5 ENSMUST00000010421.6 Kiaa0100 NM_001002004 Q3UE65 Q5SYL3 Q66JY1 Q6DIC4 Q80U77 Q8C1W6 Q8CE06 Q8CGE3 Q9CSS8 uc007kir.1 uc007kir.2 uc007kir.3 uc007kir.4 Tube-forming lipid transport protein which binds to phosphatidylinositols and affects phosphatidylinositol-4,5-bisphosphate (PtdIns-4,5-P2) distribution. Cell membrane Endoplasmic reticulum membrane Mitochondrion membrane Note=Localizes to endoplasmic reticulum-cell membrane and some endoplasmic reticulum- mitochondria contact sites. Belongs to the SABRE family. Sequence=AAH80706.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; Sequence=BAB28000.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; molecular_function cellular_component extracellular region biological_process uc007kir.1 uc007kir.2 uc007kir.3 uc007kir.4 
ENSMUST00000010434.8 AI597479 ENSMUST00000010434.8 expressed sequence AI597479 (from RefSeq NM_133818.1) ASHWN_MOUSE ENSMUST00000010434.1 ENSMUST00000010434.2 ENSMUST00000010434.3 ENSMUST00000010434.4 ENSMUST00000010434.5 ENSMUST00000010434.6 ENSMUST00000010434.7 NM_133818 Q922M7 uc007avj.1 uc007avj.2 uc007avj.3 Component of the tRNA-splicing ligase complex. Nucleus Belongs to the ashwin family. molecular_function biological_process embryonic morphogenesis tRNA-splicing ligase complex uc007avj.1 uc007avj.2 uc007avj.3 
ENSMUST00000010451.8 Tmem86a ENSMUST00000010451.8 transmembrane protein 86A (from RefSeq NM_026436.3) ENSMUST00000010451.1 ENSMUST00000010451.2 ENSMUST00000010451.3 ENSMUST00000010451.4 ENSMUST00000010451.5 ENSMUST00000010451.6 ENSMUST00000010451.7 NM_026436 Q8C6I3 Q9D8N3 TM86A_MOUSE uc009gzy.1 uc009gzy.2 uc009gzy.3 Catalyzes the hydrolysis of the vinyl ether bond of choline or ethanolamine lysoplasmalogens, forming fatty aldehyde and glycerophosphocholine or glycerophosphoethanolamine, respectively and is specific for the sn-2-deacylated (lyso) form of plasmalogen (PubMed:35835749, PubMed:36592658). Plays an important role in lysoplasmalogen metabolism in the adipocyte tissue and macrophages (PubMed:35835749, PubMed:36592658). Reaction=1-O-(1Z-alkenyl)-sn-glycero-3-phosphocholine + H2O = a 2,3- saturated aldehyde + sn-glycerol 3-phosphocholine; Xref=Rhea:RHEA:22544, ChEBI:CHEBI:15377, ChEBI:CHEBI:16870, ChEBI:CHEBI:73359, ChEBI:CHEBI:77287; EC=3.3.2.2; Evidence=; Reaction=1-O-(1Z-alkenyl)-sn-glycero-3-phosphoethanolamine + H2O = a 2,3-saturated aldehyde + sn-glycero-3-phosphoethanolamine; Xref=Rhea:RHEA:16905, ChEBI:CHEBI:15377, ChEBI:CHEBI:73359, ChEBI:CHEBI:77288, ChEBI:CHEBI:143890; EC=3.3.2.2; Evidence=; Endoplasmic reticulum membrane ; Multi-pass membrane protein Highly expressed in the jejunum, white adipose tissue, kidney and macrophages. Sterol-inducible in the macrophages and the induction is mediated by the liver X receptor (LXR) (PubMed:36592658). Up-regulated by high-fat diet in the white adipose tissue (PubMed:35835749). Adipocyte-specific knockout mice show elevated levels of lysoplasmalogens in adipose tissue and enhanced PKA-signaling pathway and mitochondrial oxidative metabolism in adipose tissue. Belongs to the TMEM86 family. membrane integral component of membrane alkenylglycerophosphocholine hydrolase activity alkenylglycerophosphoethanolamine hydrolase activity uc009gzy.1 uc009gzy.2 uc009gzy.3 
ENSMUST00000010502.13 Ifi35 ENSMUST00000010502.13 interferon-induced protein 35 (from RefSeq NM_027320.4) ENSMUST00000010502.1 ENSMUST00000010502.10 ENSMUST00000010502.11 ENSMUST00000010502.12 ENSMUST00000010502.2 ENSMUST00000010502.3 ENSMUST00000010502.4 ENSMUST00000010502.5 ENSMUST00000010502.6 ENSMUST00000010502.7 ENSMUST00000010502.8 ENSMUST00000010502.9 IN35_MOUSE Ifi35 Ifp35 NM_027320 Q3V2E7 Q9D8C4 uc007lox.1 uc007lox.2 uc007lox.3 Acts as a signaling pathway regulator involved in innate immune system response (PubMed:29350881). In response to interferon IFN-alpha, associates in a complex with transcriptional regulator NMI to regulate immune response; the complex formation prevents proteasome- mediated degradation of IFI35 and correlates with IFI35 dephosphorylation (By similarity). In complex with NMI, inhibits virus- triggered type I interferon/IFN-beta production (By similarity). In complex with NMI, negatively regulates nuclear factor NF-kappa-B signaling by inhibiting the nuclear translocation, activation and transcription of the NF-kappa-B subunit p65/RELA, resulting in the inhibition of endothelial cell proliferation, migration and re- endothelialization of injured arteries (PubMed:29350881). Beside its role as an intracellular signaling pathway regulator, also functions extracellularly as damage-associated molecular patterns (DAMPs) to promote inflammation when actively released by macrophage to the extracellular space during cell injury and pathogen invasion (By similarity). Macrophage-secreted IFI35 activates NF-kappa-B signaling in adjacent macrophages through Toll-like receptor 4/TLR4 activation, thereby inducing NF-kappa-B translocation from the cytoplasm into the nucleus which promotes the release of pro-inflammatory cytokines (By similarity). Homodimer. Also interacts with B-ATF. Interacts with TRIM21. Interacts (via NID domains) with NMI (via NID domains); the interaction is direct and is facilitated by TRIM21. Cytoplasm Nucleus Secreted Note=Cytoplasmic IFI35 localizes in punctate granular structures (By similarity). Nuclear localization increased following IFN-alpha treatment (By similarity). Extracelullar following secretion by macrophage (By similarity). The NID domain 1 is involved in the negative regulation of p65/RELA transcription and the negative regulation of NF-kappa-B pathway activation. Phosphorylated. Dephosphorylation correlates with the formation of a complex with NMI. Knockout mice show decreased inflammatory response when exposed to infection or injury, which can lead to lower inflammation-induced mortality. Belongs to the NMI family. molecular_function nucleus biological_process uc007lox.1 uc007lox.2 uc007lox.3 
ENSMUST00000010506.10 Rdm1 ENSMUST00000010506.10 RAD52 motif 1, transcript variant 2 (from RefSeq NR_184640.1) ENSMUST00000010506.1 ENSMUST00000010506.2 ENSMUST00000010506.3 ENSMUST00000010506.4 ENSMUST00000010506.5 ENSMUST00000010506.6 ENSMUST00000010506.7 ENSMUST00000010506.8 ENSMUST00000010506.9 NR_184640 Q9CQK3 RDM1_MOUSE uc007lpp.1 uc007lpp.2 uc007lpp.3 May confer resistance to the antitumor agent cisplatin. Binds to DNA and RNA (By similarity). Homodimer. Nucleus. Cytoplasm. Nucleus, nucleolus. Nucleus, Cajal body. Nucleus, PML body. Note=After treatment with proteasomal inhibitors and mild heat-shock stress is relocalized to the nucleolus as dot-like or irregular subnuclear structures. Colocalized with nuclear promyelocytic leukemia (PML) and Cajal bodies (CB); this association with nuclear bodies is enhanced in response to proteotoxic stress. Relocalized in nucleolar caps during transcriptional arrest (By similarity). C-terminal half contains cytoplasmic retention domains as well as determinants involved in its stress-induced nucleolar accumulation. molecular_function nucleic acid binding DNA binding RNA binding nucleus nucleolus cytoplasm cytosol biological_process Cajal body PML body uc007lpp.1 uc007lpp.2 uc007lpp.3 
ENSMUST00000010520.10 Nedd8 ENSMUST00000010520.10 neural precursor cell expressed, developmentally down-regulated gene 8 (from RefSeq NM_008683.4) ENSMUST00000010520.1 ENSMUST00000010520.2 ENSMUST00000010520.3 ENSMUST00000010520.4 ENSMUST00000010520.5 ENSMUST00000010520.6 ENSMUST00000010520.7 ENSMUST00000010520.8 ENSMUST00000010520.9 NM_008683 Nedd8 Q3UI46 Q3UI46_MOUSE uc007uac.1 uc007uac.2 uc007uac.3 Nucleus Belongs to the ubiquitin family. nucleus nucleoplasm cytosol response to organic cyclic compound ubiquitin protein ligase binding protein neddylation uc007uac.1 uc007uac.2 uc007uac.3 
ENSMUST00000010536.9 Gosr1 ENSMUST00000010536.9 golgi SNAP receptor complex member 1, transcript variant 1 (from RefSeq NM_016810.4) ENSMUST00000010536.1 ENSMUST00000010536.2 ENSMUST00000010536.3 ENSMUST00000010536.4 ENSMUST00000010536.5 ENSMUST00000010536.6 ENSMUST00000010536.7 ENSMUST00000010536.8 GOSR1_MOUSE Gs28 NM_016810 O88630 Q91VU9 uc007kfz.1 uc007kfz.2 uc007kfz.3 Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide-sensitive factor) attachment protein receptor. May play a protective role against hydrogen peroxide induced cytotoxicity under glutathione depleted conditions in neuronal cells by regulating the intracellular ROS levels via inhibition of p38 MAPK (MAPK11, MAPK12, MAPK13 and MAPK14). Participates in docking and fusion stage of ER to cis-Golgi transport. Plays an important physiological role in VLDL-transport vesicle-Golgi fusion and thus in VLDL delivery to the hepatic cis-Golgi (By similarity). Component of several multiprotein Golgi SNARE complexes. Identified in a SNARE complex with BET1, STX5 and YKT6, in a SNARE complex with BET1L, STX5 and YKT6, in a SNARE complex with STX5, GOSR2, SEC22B and BET1, and in complex with STX5 and COG3. Interacts with GABARAPL2 (By similarity). Golgi apparatus membrane ; Single-pass type IV membrane protein Note=Localizes throughout the Golgi apparatus, with lowest levels in the trans-Golgi network. Enriched on vesicular components at the terminal rims of the Golgi. Decreased levels in 25-hydroxycholesterol treated melanocytes (at protein level). Belongs to the GOSR1 family. Golgi membrane SNAP receptor activity Golgi apparatus Golgi medial cisterna cis-Golgi network cytosol ER to Golgi vesicle-mediated transport vesicle fusion protein transport membrane integral component of membrane vesicle-mediated transport SNARE complex retrograde transport, endosome to Golgi regulation of vesicle targeting, to, from or within Golgi uc007kfz.1 uc007kfz.2 uc007kfz.3 
ENSMUST00000010550.12 Mrpl52 ENSMUST00000010550.12 mitochondrial ribosomal protein L52 (from RefSeq NM_026851.2) ENSMUST00000010550.1 ENSMUST00000010550.10 ENSMUST00000010550.11 ENSMUST00000010550.2 ENSMUST00000010550.3 ENSMUST00000010550.4 ENSMUST00000010550.5 ENSMUST00000010550.6 ENSMUST00000010550.7 ENSMUST00000010550.8 ENSMUST00000010550.9 NM_026851 Q6PAU6 Q9D0Y8 RM52_MOUSE uc007tvz.1 uc007tvz.2 uc007tvz.3 Component of the mitochondrial ribosome large subunit (39S) which comprises a 16S rRNA and about 50 distinct proteins. Mitochondrion Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9D0Y8-1; Sequence=Displayed; Name=2; IsoId=Q9D0Y8-2; Sequence=VSP_022476; Belongs to the mitochondrion-specific ribosomal protein mL52 family. structural constituent of ribosome mitochondrion mitochondrial large ribosomal subunit ribosome translation mitochondrial translation uc007tvz.1 uc007tvz.2 uc007tvz.3 
ENSMUST00000010579.8 Spaca7 ENSMUST00000010579.8 sperm acrosome associated 7, transcript variant 1 (from RefSeq NM_024279.4) ENSMUST00000010579.1 ENSMUST00000010579.2 ENSMUST00000010579.3 ENSMUST00000010579.4 ENSMUST00000010579.5 ENSMUST00000010579.6 ENSMUST00000010579.7 NM_024279 Q9D2S4 SPAC7_MOUSE Spaca7 uc009kwc.1 uc009kwc.2 uc009kwc.3 Involved in fertilization. Seems not to play a direct role in sperm-egg binding or gamete fusion. Secreted Cytoplasmic vesicle, secretory vesicle, acrosome lumen Note=Localized in perinuclear pro-acrosomal granules in round spermatides (PubMed:24307706). Localized between the inner and outer acrosomal membranes (matrix or lumen) in spermatozoa (PubMed:24307706). Secreted during acrosome exocytosis (PubMed:24307706). Testis-specific (PubMed:22495889, PubMed:24307706). Expressed in zygotene and pachytene spermatocytes, round spermatids, elongating spermatids and spermatozoa (at protein level) (PubMed:22495889, PubMed:24307706). Testis-specific (PubMed:22495889). acrosomal vesicle extracellular region negative regulation of cell adhesion single fertilization cytoplasmic vesicle acrosomal lumen uc009kwc.1 uc009kwc.2 uc009kwc.3 
ENSMUST00000010673.7 Gm266 ENSMUST00000010673.7 predicted gene 266 (from RefSeq NM_001033248.3) A6H634 A6H634_MOUSE ENSMUST00000010673.1 ENSMUST00000010673.2 ENSMUST00000010673.3 ENSMUST00000010673.4 ENSMUST00000010673.5 ENSMUST00000010673.6 Gm266 NM_001033248 uc007pdc.1 uc007pdc.2 uc007pdc.3 nucleotide binding GTPase activity GTP binding plasma membrane signal transduction membrane GDP binding negative regulation of cell migration Rap protein signal transduction uc007pdc.1 uc007pdc.2 uc007pdc.3 
ENSMUST00000010736.9 Dazl ENSMUST00000010736.9 deleted in azoospermia-like, transcript variant 1 (from RefSeq NM_010021.6) DAZL_MOUSE Dazl1 Dazla ENSMUST00000010736.1 ENSMUST00000010736.2 ENSMUST00000010736.3 ENSMUST00000010736.4 ENSMUST00000010736.5 ENSMUST00000010736.6 ENSMUST00000010736.7 ENSMUST00000010736.8 NM_010021 Q64368 uc008cyv.1 uc008cyv.2 uc008cyv.3 uc008cyv.4 uc008cyv.5 This gene encodes a member of the depleted in azoospermia-like (DAZL) protein family. Members of this family contain an RNA recognition motif, interact with poly A binding proteins, and may be involved in the initiation of translation. The encoded protein is expressed in the cytoplasm of pluripotent stem cells, and in both male and female germ cells, where it is essential for gametogenesis. Disruption of this gene is associated with infertility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]. RNA-binding protein, which is essential for gametogenesis in both males and females. Plays a central role during spermatogenesis. Acts by binding to the 3'-UTR of mRNA, specifically recognizing GUU triplets, and thereby regulating the translation of key transcripts. Homodimer and heterodimer. Forms a heterodimer with DAZ. Interacts with BOLL, DAZAP1 and DAZAP2. Interacts with PUM2 (By similarity). Multiple DAZL RRMs can bind to a single RNA containing multiple GUU triplets. Q64368; Q64368: Dazl; NbExp=2; IntAct=EBI-2024439, EBI-2024439; Q64368; O88485: Dync1i1; NbExp=4; IntAct=EBI-2024439, EBI-492834; Q64368; P63168: Dynll1; NbExp=12; IntAct=EBI-2024439, EBI-349121; Cytoplasm Expressed predominantly in testis with lower levels in ovary. In testis, it is expressed in pachytene spermatocytes and at lower level in type-B spermatogonia, preleptotene and zygotene spermatocytes. In ovary, it is expressed in maturing follicles. In embryonic and prepuberal ovary, it is expressed in the oocyte and follicular cells. In the testis, expression increases steadily after birth until the first spermatogonial cells appear, levels off as the first spermatogenic cells enter meiosis (10 days after birth) and remains at this level thereafter. The DAZ domain mediates the interaction with DAZAP1 and DAZAP2. Belongs to the RRM DAZ family. oocyte maturation nucleic acid binding RNA binding mRNA binding mRNA 3'-UTR binding protein binding nucleus cytoplasm polysome regulation of translation female meiosis II multicellular organism development germ cell development spermatogenesis translation activator activity cell differentiation macromolecular complex identical protein binding positive regulation of meiotic nuclear division positive regulation of translational initiation oogenesis 3'-UTR-mediated mRNA stabilization uc008cyv.1 uc008cyv.2 uc008cyv.3 uc008cyv.4 uc008cyv.5 
ENSMUST00000010795.5 Acaa1b ENSMUST00000010795.5 acetyl-Coenzyme A acyltransferase 1B, transcript variant 1 (from RefSeq NM_146230.4) Acaa1 Acaa1b ENSMUST00000010795.1 ENSMUST00000010795.2 ENSMUST00000010795.3 ENSMUST00000010795.4 NM_146230 Q8VCH0 THIKB_MOUSE uc009saj.1 uc009saj.2 uc009saj.3 Responsible for the thiolytic cleavage of straight chain 3- keto fatty acyl-CoAs (3-oxoacyl-CoAs) (Probable). Plays an important role in fatty acid peroxisomal beta-oxidation (Probable). Catalyzes the cleavage of short, medium, long, and very long straight chain 3- oxoacyl-CoAs (By similarity). Reaction=acetyl-CoA + an acyl-CoA = a 3-oxoacyl-CoA + CoA; Xref=Rhea:RHEA:21564, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:58342, ChEBI:CHEBI:90726; EC=2.3.1.16; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:21566; Evidence=; Reaction=2 acetyl-CoA = acetoacetyl-CoA + CoA; Xref=Rhea:RHEA:21036, ChEBI:CHEBI:57286, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=2.3.1.9; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:21038; Evidence=; Reaction=acetyl-CoA + hexanoyl-CoA = 3-oxooctanoyl-CoA + CoA; Xref=Rhea:RHEA:31203, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:62619, ChEBI:CHEBI:62620; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:31205; Evidence=; Reaction=acetyl-CoA + tetradecanoyl-CoA = 3-oxohexadecanoyl-CoA + CoA; Xref=Rhea:RHEA:18161, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:57349, ChEBI:CHEBI:57385; EC=2.3.1.155; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:18163; Evidence=; Reaction=3-oxohexadecanedioyl-CoA + CoA = acetyl-CoA + tetradecanedioyl-CoA; Xref=Rhea:RHEA:40343, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:77081, ChEBI:CHEBI:77084; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40344; Evidence=; Reaction=3-oxo-(6Z,9Z,12Z,15Z,18Z,21Z)-tetracosahexaenoyl-CoA + CoA = (4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl-CoA + acetyl-CoA; Xref=Rhea:RHEA:39131, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:74298, ChEBI:CHEBI:74304; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39132; Evidence=; Lipid metabolism; peroxisomal fatty acid beta-oxidation. Homodimer. Interacts (via PTS2-type peroxisomal targeting signal region) with PEX7; leading to its translocation into peroxisomes. Peroxisome Note=Transported into peroxisomes following association with PEX7. Mainly expressed in liver; weaker levels in kidney, intestine and white adipose tissue. The PTS2-type peroxisomal targeting signal, which mediates interaction with PEX7 and localization to peroxisomes, is cleaved following import into peroxisomes. Belongs to the thiolase-like superfamily. Thiolase family. catalytic activity acetyl-CoA C-acetyltransferase activity acetyl-CoA C-acyltransferase activity mitochondrion peroxisome lipid metabolic process fatty acid metabolic process fatty acid beta-oxidation phenylacetate catabolic process transferase activity transferase activity, transferring acyl groups transferase activity, transferring acyl groups other than amino-acyl groups acetyl-CoA C-myristoyltransferase activity uc009saj.1 uc009saj.2 uc009saj.3 
ENSMUST00000010807.6 Fads1 ENSMUST00000010807.6 fatty acid desaturase 1 (from RefSeq NM_146094.2) ENSMUST00000010807.1 ENSMUST00000010807.2 ENSMUST00000010807.3 ENSMUST00000010807.4 ENSMUST00000010807.5 FADS1_MOUSE Fads1 NM_146094 Q3U494 Q8BZX7 Q8R0G8 Q8VC07 Q920L1 uc008gpe.1 uc008gpe.2 uc008gpe.3 uc008gpe.4 uc008gpe.5 uc008gpe.6 Acts as a front-end fatty acyl-coenzyme A (CoA) desaturase that introduces a cis double bond at carbon 5 located between a preexisting double bond and the carboxyl end of the fatty acyl chain. Involved in biosynthesis of highly unsaturated fatty acids (HUFA) from the essential polyunsaturated fatty acids (PUFA) linoleic acid (LA) (18:2n-6) and alpha-linolenic acid (ALA) (18:3n-3) precursors. Specifically, desaturates dihomo-gamma-linoleoate (DGLA) (20:3n-6) and eicosatetraenoate (ETA) (20:4n-3) to generate arachidonate (AA) (20:4n- 6) and eicosapentaenoate (EPA) (20:5n-3), respectively (Probable). As a rate limiting enzyme for DGLA (20:3n-6) and AA (20:4n-6)-derived eicosanoid biosynthesis, controls the metabolism of inflammatory lipids like prostaglandin E2, critical for efficient acute inflammatory response and maintenance of epithelium homeostasis. Contributes to membrane phospholipid biosynthesis by providing AA (20:4n-6) as a major acyl chain esterified into phospholipids. In particular, regulates phosphatidylinositol-4,5-bisphosphate levels, modulating inflammatory cytokine production in T-cells (PubMed:22534642). Also desaturates (11E)-octadecenoate (trans-vaccenoate)(18:1n-9), a metabolite in the biohydrogenation pathway of LA (18:2n-6) (By similarity). Reaction=(8Z,11Z,14Z)-eicosatrienoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 2 Fe(III)- [cytochrome b5] + 2 H2O; Xref=Rhea:RHEA:46424, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:57368, ChEBI:CHEBI:74264; EC=1.14.19.44; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46425; Evidence=; Reaction=(8Z,11Z,14Z,17Z)-eicosatetraenoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (5Z,8Z,11Z,14Z,17Z)-eicosapentaenoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O; Xref=Rhea:RHEA:46420, Rhea:RHEA- COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:73862, ChEBI:CHEBI:74265; EC=1.14.19.44; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46421; Evidence=; Reaction=(11E)-octadecenoyl-CoA + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = (5Z,11E)-octadecadienoyl-CoA + 2 Fe(III)-[cytochrome b5] + 2 H2O; Xref=Rhea:RHEA:46060, Rhea:RHEA-COMP:10438, Rhea:RHEA- COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:74296, ChEBI:CHEBI:85651; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46061; Evidence=; Lipid metabolism; polyunsaturated fatty acid biosynthesis. Endoplasmic reticulum membrane ; Multi-pass membrane protein Mitochondrion Highly expressed in the adrenal gland, liver, brain, and testis, tissues where lipogenesis and steroidogenesis are active (PubMed:11792729). Expressed in colonic mucosa (PubMed:22534642). Expression in liver is down-regulated by dietary PUFA. The histidine box domains may contain the active site and/or be involved in metal ion binding. Knockout mice die prematurely with no survivors past 12 weeks of age. This phenotype can be rescued by adding arachidonic acid (AA) to the diet. Belongs to the fatty acid desaturase type 1 family. nucleus mitochondrion endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process unsaturated fatty acid biosynthetic process aging response to nutrient cellular response to starvation response to sucrose response to organic substance response to organic cyclic compound membrane integral component of membrane linoleoyl-CoA desaturase activity oxidoreductase activity oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water arachidonic acid metabolic process response to insulin response to vitamin A response to isolation stress long-chain fatty acid biosynthetic process intracellular membrane-bounded organelle oxidation-reduction process uc008gpe.1 uc008gpe.2 uc008gpe.3 uc008gpe.4 uc008gpe.5 uc008gpe.6 
ENSMUST00000010899.14 Cars1 ENSMUST00000010899.14 cysteinyl-tRNA synthetase 1, transcript variant 1 (from RefSeq NM_013742.5) Cars ENSMUST00000010899.1 ENSMUST00000010899.10 ENSMUST00000010899.11 ENSMUST00000010899.12 ENSMUST00000010899.13 ENSMUST00000010899.2 ENSMUST00000010899.3 ENSMUST00000010899.4 ENSMUST00000010899.5 ENSMUST00000010899.6 ENSMUST00000010899.7 ENSMUST00000010899.8 ENSMUST00000010899.9 NM_013742 O88303 Q8BP81 Q8CAY7 Q8CCE3 Q8K0S4 Q9ER68 Q9ER72 SYCC_MOUSE uc009kpn.1 uc009kpn.2 uc009kpn.3 Catalyzes the ATP-dependent ligation of cysteine to tRNA(Cys). Reaction=ATP + L-cysteine + tRNA(Cys) = AMP + diphosphate + L- cysteinyl-tRNA(Cys); Xref=Rhea:RHEA:17773, Rhea:RHEA-COMP:9661, Rhea:RHEA-COMP:9679, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:35235, ChEBI:CHEBI:78442, ChEBI:CHEBI:78517, ChEBI:CHEBI:456215; EC=6.1.1.16; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:17774; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Homodimer. Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9ER72-1; Sequence=Displayed; Name=2; IsoId=Q9ER72-2; Sequence=VSP_010258; Belongs to the class-I aminoacyl-tRNA synthetase family. tRNA binding nucleotide binding aminoacyl-tRNA ligase activity cysteine-tRNA ligase activity ATP binding cytoplasm cytosol translation tRNA aminoacylation for protein translation cysteinyl-tRNA aminoacylation ligase activity protein homodimerization activity metal ion binding uc009kpn.1 uc009kpn.2 uc009kpn.3 
ENSMUST00000010904.5 Phlda2 ENSMUST00000010904.5 pleckstrin homology like domain, family A, member 2 (from RefSeq NM_009434.2) ENSMUST00000010904.1 ENSMUST00000010904.2 ENSMUST00000010904.3 ENSMUST00000010904.4 Ipl NM_009434 O08969 PHLA2_MOUSE Tssc3 uc009kpj.1 uc009kpj.2 uc009kpj.3 This gene is one of several genes in the imprinted gene domain on chromosome 7. Studies using knockout mice have shown that the product of this gene regulates placental growth. Transcripts from this gene are most abundant in placenta and yolk sac, and are almost entirely transcribed from the maternal allele. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: CF615806.1, AK131929.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## imprinted gene :: PMID: 15327781 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Plays a role in regulating placenta growth. May act via its PH domain that competes with other PH domain-containing proteins, thereby preventing their binding to membrane lipids. Cytoplasm Membrane ; Peripheral membrane protein Specifically expressed at high levels in extraembryonic tissues in the developing conceptus (at protein level). Expressed in placenta and yolc sac. Expressed at low levels in fetal liver and kidney. Expressed at high levels in the very early conceptus limited to polar trophectoderm. Strongly expressed in the ectoplacental cone shortly after implantation at 5.5 dpc, and the high expression remains restricted to the extraembryonic tissues at later stages. By 10.5 dpc expression is restricted to the labyrinthine trophoblast and the endodermal component of the visceral yolk sac. Between 12.5 and 14.4 dpc expression in placenta decreases, due to a number of expressing cells. On day 12 of gestation, the abundant expressing cells are trophoblast at the chorionic plate, and clustered type II trophoblast deeper in the labyrinth. Less expressed by terminally differentiated trophoblast. As early as 14.5 dpc, becomes confined to a monolayer of cells at the chorionic plate and to rare cells in septa that protrude into the labyrinth (at protein level). Maternal Phlda2 allele is activated, while paternal Phlda2 is repressed due to genomic imprinting. The PH domain binds phosphoinositides with a broad specificity. It may compete with the PH domain of some other proteins, thereby interfering with their binding to phosphatidylinositol 4,5-bisphosphate (PIP2) and phosphatidylinositol 3,4,5-trisphosphate (PIP3) (By similarity). Mice are viable, and show overgrowth of placentas with expansion of the spongiotrophoblast. These larger placentas do not confer a fetal growth advantage. The Phlda2 locus is imprinted. Loss of imprinting results in overexpression, leading to placental growth retardation phenotypes. Belongs to the PHLDA2 family. placenta development cytoplasm animal organ morphogenesis regulation of gene expression membrane regulation of cell migration regulation of embryonic development regulation of spongiotrophoblast cell proliferation regulation of glycogen metabolic process regulation of growth hormone activity uc009kpj.1 uc009kpj.2 uc009kpj.3 
ENSMUST00000010940.11 Asz1 ENSMUST00000010940.11 ankyrin repeat, SAM and basic leucine zipper domain containing 1 (from RefSeq NM_023729.3) ASZ1_MOUSE Asz1 ENSMUST00000010940.1 ENSMUST00000010940.10 ENSMUST00000010940.2 ENSMUST00000010940.3 ENSMUST00000010940.4 ENSMUST00000010940.5 ENSMUST00000010940.6 ENSMUST00000010940.7 ENSMUST00000010940.8 ENSMUST00000010940.9 G3X8S0 Gasz NM_023729 Q6PD92 Q8VD46 Q9JKQ7 uc009bah.1 uc009bah.2 uc009bah.3 uc009bah.4 Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with pi-bodies suggests a participation in the primary piRNAs metabolic process. Required prior to the pachytene stage to facilitate the production of multiple types of piRNAs, including those associated with repeats involved in regulation of retrotransposons. May act by mediating protein-protein interactions during germ cell maturation. Interacts with DDX4, PIWIL1, RANBP9 and TDRD1. Cytoplasm te=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. Specifically localizes to pi- bodies, a subset of the nuage which contains primary piRNAs. Expressed exclusively in testis and ovary with higher levels in testis. Expressed in pachytene spermatocytes and early spermatids in the developing and adult testes and in oocytes in all stages of oogenesis in the ovary. Also expressed in preimplantive embryos. Mice are viable but show profound defect in male meiosis leading to male sterility. Testes display increased hypomethylation of retrotransposons and their subsequent expression as well as piRNAs suppression. Sequence=AAF30297.1; Type=Erroneous gene model prediction; Evidence=; protein binding cytoplasm cytosol male meiosis multicellular organism development germ cell development spermatogenesis cell differentiation gene silencing by RNA piRNA metabolic process DNA methylation involved in gamete generation meiotic cell cycle pi-body uc009bah.1 uc009bah.2 uc009bah.3 uc009bah.4 
ENSMUST00000010941.6 Wnt2 ENSMUST00000010941.6 wingless-type MMTV integration site family, member 2 (from RefSeq NM_023653.5) ENSMUST00000010941.1 ENSMUST00000010941.2 ENSMUST00000010941.3 ENSMUST00000010941.4 ENSMUST00000010941.5 Irp NM_023653 P21552 Q9CZW3 WNT2_MOUSE Wnt-2 uc009bag.1 uc009bag.2 uc009bag.3 uc009bag.4 Ligand for members of the frizzled family of seven transmembrane receptors. Functions in the canonical Wnt/beta-catenin signaling pathway (PubMed:19686689). Functions as a upstream regulator of FGF10 expression (PubMed:19686689). Plays an important role in embryonic lung development (PubMed:19686689). May contribute to embryonic brain development by regulating the proliferation of dopaminergic precursors and neurons (PubMed:20018874). Secreted, extracellular space, extracellular matrix Secreted In embryos in the developing allantois, pericardium heart, and ventral-lateral mesoderm; in adults in lung, brain, heart and placenta. Detected in ventral mesencephalon from 10.5 to 15.5 dpc; expression levels decrease moderately, but steadily during this period (PubMed:20018874). Detected in the lateral plate mesoderm surrounding the ventral aspect of the anterior foregut from 9.0 to 10.5 dpc (PubMed:19686689). Detected in the developing mesenchyme with higher levels surrounding the distal regions of the branching airways from 12.5 to 18.5 dpc (PubMed:19686689). Palmitoleoylation is required for efficient binding to frizzled receptors. Depalmitoleoylation leads to Wnt signaling pathway inhibition. Nearly complete perinatal lethality within minutes after birth, due to lung hypoplasia (PubMed:19686689). About 4% survive for more than 30 days (PubMed:19686689). Combined disruption of Wnt2 and Wnt2b leads to lung agenesis and loss of trachea development (PubMed:19686689). In contrast, development of liver, stomach, intestine, pancreas and kidneys appears grossly normal (PubMed:19686689). Belongs to the Wnt family. positive regulation of endothelial cell proliferation positive regulation of mesenchymal cell proliferation receptor binding frizzled binding cytokine activity extracellular region extracellular space cytoplasm cell-cell signaling multicellular organism development positive regulation of cell proliferation Wnt signaling pathway neuron differentiation lung development extrinsic component of external side of plasma membrane cell proliferation in midbrain cell fate commitment positive regulation of transcription from RNA polymerase II promoter receptor agonist activity positive regulation of fibroblast proliferation positive regulation of sequence-specific DNA binding transcription factor activity atrial cardiac muscle tissue morphogenesis positive regulation of cardiac muscle cell proliferation canonical Wnt signaling pathway cardiac epithelial to mesenchymal transition lung induction positive regulation of epithelial cell proliferation involved in lung morphogenesis labyrinthine layer blood vessel development mammary gland epithelium development cellular response to transforming growth factor beta stimulus midbrain dopaminergic neuron differentiation canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation uc009bag.1 uc009bag.2 uc009bag.3 uc009bag.4 
ENSMUST00000010974.9 Kdelr3 ENSMUST00000010974.9 KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (from RefSeq NM_134090.2) ENSMUST00000010974.1 ENSMUST00000010974.2 ENSMUST00000010974.3 ENSMUST00000010974.4 ENSMUST00000010974.5 ENSMUST00000010974.6 ENSMUST00000010974.7 ENSMUST00000010974.8 ERD23_MOUSE NM_134090 Q3UVS1 Q8R1L4 Q91X67 uc007wto.1 uc007wto.2 uc007wto.3 uc007wto.4 Receptor for the C-terminal sequence motif K-D-E-L that is present on endoplasmic reticulum resident proteins and that mediates their recycling from the Golgi back to the endoplasmic reticulum. Endoplasmic reticulum membrane ; Multi-pass membrane protein Golgi apparatus membrane ; Multi-pass membrane protein Cytoplasmic vesicle, COPI-coated vesicle membrane ; Multi-pass membrane protein Note=Localized in the Golgi in the absence of bound proteins with the sequence motif K-D-E-L. Trafficks back to the endoplasmic reticulum together with cargo proteins containing the sequence motif K-D-E-L. Binds the C-terminal sequence motif K-D-E-L in a hydrophilic cavity between the transmembrane domains. This triggers a conformation change that exposes a Lys-rich patch on the cytosolic surface of the protein (By similarity). This patch mediates recycling from the Golgi to the endoplasmic reticulum, probably via COPI vesicles (By similarity). Belongs to the ERD2 family. Golgi membrane KDEL sequence binding endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus cis-Golgi network protein retention in ER lumen ER to Golgi vesicle-mediated transport retrograde vesicle-mediated transport, Golgi to ER protein transport membrane integral component of membrane vesicle-mediated transport COPI-coated vesicle membrane cytoplasmic vesicle ER retention sequence binding uc007wto.1 uc007wto.2 uc007wto.3 uc007wto.4 
ENSMUST00000010985.8 Cfap97d1 ENSMUST00000010985.8 CFAP97 domain containing 1 (from RefSeq NM_029287.1) CF97D_MOUSE ENSMUST00000010985.1 ENSMUST00000010985.2 ENSMUST00000010985.3 ENSMUST00000010985.4 ENSMUST00000010985.5 ENSMUST00000010985.6 ENSMUST00000010985.7 NM_029287 Q9DAN9 uc007lqb.1 uc007lqb.2 uc007lqb.3 Required for male fertility through its role in axonemal doublet stabilization which is essential for sperm motility and fertilization. Expressed exclusively in testis. Expression starts at postnatal day 20 and continues throughout adulthood. Male subfertility. Sperm show an impaired ability to penetrate the zona pellucida and abnormal motility characterized by frequent stalling in the anti-hook position with the flagellum and hook of the sperm head pointing in opposite directions. Sperm flagella lack outer microtubule doublet 4 in 63% of mutants while doublet 7 is missing in 14.8% of mutants. A small number of mutants have multiple doublets missing but these are relatively rare: the 4th and 7th doublets are missing in 1.6% of mutants; the 4th, 5th and 7th doublets are missing in 3.7%; the 4th, 5th and 6th doublets are missing in 1.23%; and the 4th, 5th, 6th and 7th doublets are missing in 1.23%. Belongs to the CFAP97 family. molecular_function cellular_component biological_process uc007lqb.1 uc007lqb.2 uc007lqb.3 
ENSMUST00000011055.7 Apip ENSMUST00000011055.7 APAF1 interacting protein, transcript variant 1 (from RefSeq NM_019735.4) Apip ENSMUST00000011055.1 ENSMUST00000011055.2 ENSMUST00000011055.3 ENSMUST00000011055.4 ENSMUST00000011055.5 ENSMUST00000011055.6 MTNB_MOUSE Mmrp19 NM_019735 Q8BP46 Q9WVQ5 uc008lin.1 uc008lin.2 uc008lin.3 uc008lin.4 Catalyzes the dehydration of methylthioribulose-1-phosphate (MTRu-1-P) into 2,3-diketo-5-methylthiopentyl-1-phosphate (DK-MTP-1-P). Functions in the methionine salvage pathway, which plays a key role in cancer, apoptosis, microbial proliferation and inflammation. May inhibit the CASP1-related inflammatory response (pyroptosis), the CASP9-dependent apoptotic pathway and the cytochrome c-dependent and APAF1-mediated cell death. Reaction=S-methyl-5-thio-D-ribulose 1-phosphate = 5-methylsulfanyl-2,3- dioxopentyl phosphate + H2O; Xref=Rhea:RHEA:15549, ChEBI:CHEBI:15377, ChEBI:CHEBI:58548, ChEBI:CHEBI:58828; EC=4.2.1.109; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 2/6. Homotetramer. Interacts with APAF1. May interact with CASP1. Cytoplasm Expressed in skeletal muscle (at protein level). Up-regulated upon ischemia/hypoxia. Belongs to the aldolase class II family. MtnB subfamily. cytoplasm apoptotic process zinc ion binding cellular amino acid biosynthetic process methionine biosynthetic process lyase activity L-methionine biosynthetic process from S-adenosylmethionine L-methionine biosynthetic process from methylthioadenosine identical protein binding negative regulation of apoptotic process methylthioribulose 1-phosphate dehydratase activity metal ion binding protein homotetramerization pyroptosis regulation of ERK1 and ERK2 cascade uc008lin.1 uc008lin.2 uc008lin.3 uc008lin.4 
ENSMUST00000011058.9 Pdhx ENSMUST00000011058.9 pyruvate dehydrogenase complex, component X (from RefSeq NM_175094.5) ENSMUST00000011058.1 ENSMUST00000011058.2 ENSMUST00000011058.3 ENSMUST00000011058.4 ENSMUST00000011058.5 ENSMUST00000011058.6 ENSMUST00000011058.7 ENSMUST00000011058.8 NM_175094 ODPX_MOUSE Q8BKZ9 uc008lil.1 uc008lil.2 uc008lil.3 uc008lil.4 uc008lil.5 uc008lil.6 Required for anchoring dihydrolipoamide dehydrogenase (E3) to the dihydrolipoamide transacetylase (E2) core of the pyruvate dehydrogenase complexes of eukaryotes. This specific binding is essential for a functional PDH complex (By similarity). Part of the inner core of the multimeric pyruvate dehydrogenase complex that is composed of about 48 DLAT and 12 PDHX molecules. This core binds multiple copies of pyruvate dehydrogenase (subunits PDH1A and PDHB, E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). Interacts with SIRT4. Interacts with DLD. Mitochondrion matrix Delipoylated at Lys-97 by SIRT4, delipoylation decreases the PHD complex activity. Belongs to the 2-oxoacid dehydrogenase family. mitochondrion mitochondrial matrix transferase activity, transferring acyl groups pyruvate dehydrogenase (NAD+) activity pyruvate dehydrogenase complex mitochondrial acetyl-CoA biosynthetic process from pyruvate uc008lil.1 uc008lil.2 uc008lil.3 uc008lil.4 uc008lil.5 uc008lil.6 
ENSMUST00000011178.5 Slc5a1 ENSMUST00000011178.5 solute carrier family 5 (sodium/glucose cotransporter), member 1 (from RefSeq NM_019810.4) ENSMUST00000011178.1 ENSMUST00000011178.2 ENSMUST00000011178.3 ENSMUST00000011178.4 NM_019810 Q9QXI6 Q9QXI6_MOUSE Sglt1 Slc5a1 uc008xah.1 uc008xah.2 uc008xah.3 uc008xah.4 Reaction=D-galactose(out) + 2 Na(+)(out) = D-galactose(in) + 2 Na(+)(in); Xref=Rhea:RHEA:70499, ChEBI:CHEBI:4139, ChEBI:CHEBI:29101; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70500; Evidence=; Reaction=D-glucose(out) + 2 Na(+)(out) = D-glucose(in) + 2 Na(+)(in); Xref=Rhea:RHEA:70495, ChEBI:CHEBI:4167, ChEBI:CHEBI:29101; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70496; Evidence=; Apical cell membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein Membrane ; Multi-pass membrane protein Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. glucose:sodium symporter activity cell-cell junction membrane integral component of membrane apical plasma membrane transmembrane transporter activity brush border membrane transmembrane transport glucose transmembrane transport uc008xah.1 uc008xah.2 uc008xah.3 uc008xah.4 
ENSMUST00000011262.4 Panx3 ENSMUST00000011262.4 pannexin 3 (from RefSeq NM_172454.2) ENSMUST00000011262.1 ENSMUST00000011262.2 ENSMUST00000011262.3 NM_172454 PANX3_MOUSE Q8CB28 Q8CEG0 uc009ovi.1 uc009ovi.2 uc009ovi.3 Structural component of the gap junctions and the hemichannels. Cell membrane ; Multi-pass membrane protein Cell junction, gap junction. Expressed in skin, cartilage, heart, lung, liver, spleen, thymus and kidney. Not expressed in brain. N-glycosylation may play a role in cell surface targeting. Belongs to the pannexin family. plasma membrane gap junction ion transport cation transport cell-cell signaling channel activity membrane integral component of membrane wide pore channel activity cell junction protein hexamerization positive regulation of interleukin-1 secretion gap junction hemi-channel activity transmembrane transport uc009ovi.1 uc009ovi.2 uc009ovi.3 
ENSMUST00000011298.14 Cfap161 ENSMUST00000011298.14 cilia and flagella associated protein 161 (from RefSeq NM_029335.3) CF161_MOUSE Cfap161 ENSMUST00000011298.1 ENSMUST00000011298.10 ENSMUST00000011298.11 ENSMUST00000011298.12 ENSMUST00000011298.13 ENSMUST00000011298.2 ENSMUST00000011298.3 ENSMUST00000011298.4 ENSMUST00000011298.5 ENSMUST00000011298.6 ENSMUST00000011298.7 ENSMUST00000011298.8 ENSMUST00000011298.9 NM_029335 Q6P8Y0 Q9D9X1 uc009idv.1 uc009idv.2 uc009idv.3 uc009idv.4 Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating. Cytoplasm, cytoskeleton, cilium axoneme molecular_function cellular_component biological_process membrane uc009idv.1 uc009idv.2 uc009idv.3 uc009idv.4 
ENSMUST00000011302.9 Brf1 ENSMUST00000011302.9 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit (from RefSeq NM_028193.3) Brf1 ENSMUST00000011302.1 ENSMUST00000011302.2 ENSMUST00000011302.3 ENSMUST00000011302.4 ENSMUST00000011302.5 ENSMUST00000011302.6 ENSMUST00000011302.7 ENSMUST00000011302.8 G3X8S2 G3X8S2_MOUSE NM_028193 uc007pfn.1 uc007pfn.2 uc007pfn.3 Nucleus Belongs to the TFIIB family. translation initiation factor activity regulation of transcription, DNA-templated translational initiation TBP-class protein binding positive regulation of transcription from RNA polymerase III promoter metal ion binding DNA-templated transcriptional preinitiation complex assembly uc007pfn.1 uc007pfn.2 uc007pfn.3 
ENSMUST00000011315.10 Vipr2 ENSMUST00000011315.10 vasoactive intestinal peptide receptor 2, transcript variant 1 (from RefSeq NM_009511.2) ENSMUST00000011315.1 ENSMUST00000011315.2 ENSMUST00000011315.3 ENSMUST00000011315.4 ENSMUST00000011315.5 ENSMUST00000011315.6 ENSMUST00000011315.7 ENSMUST00000011315.8 ENSMUST00000011315.9 NM_009511 Q546Q8 Q546Q8_MOUSE Vipr2 uc007phf.1 uc007phf.2 uc007phf.3 uc007phf.4 Cell membrane ; Multi-pass membrane protein Membrane ; Multi-pass membrane protein Belongs to the G-protein coupled receptor 2 family. transmembrane signaling receptor activity G-protein coupled receptor activity vasoactive intestinal polypeptide receptor activity signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway activation of adenylate cyclase activity membrane integral component of membrane negative regulation of smooth muscle cell proliferation uc007phf.1 uc007phf.2 uc007phf.3 uc007phf.4 
ENSMUST00000011398.13 Thg1l ENSMUST00000011398.13 tRNA-histidine guanylyltransferase 1-like (S. cerevisiae), transcript variant 1 (from RefSeq NM_001080969.3) ENSMUST00000011398.1 ENSMUST00000011398.10 ENSMUST00000011398.11 ENSMUST00000011398.12 ENSMUST00000011398.2 ENSMUST00000011398.3 ENSMUST00000011398.4 ENSMUST00000011398.5 ENSMUST00000011398.6 ENSMUST00000011398.7 ENSMUST00000011398.8 ENSMUST00000011398.9 NM_001080969 Q562D7 Q9CY52 THG1_MOUSE uc007inv.1 uc007inv.2 uc007inv.3 uc007inv.4 uc007inv.5 Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis. Also functions as a guanyl-nucleotide exchange factor/GEF for the MFN1 and MFN2 mitofusins thereby regulating mitochondrial fusion. By regulating both mitochondrial dynamics and bioenergetic function, it contributes to cell survival following oxidative stress. Reaction=a 5'-end ribonucleotide-tRNA(His) + ATP + GTP + H2O = a 5'-end phospho-guanosine-ribonucleotide-tRNA(His) + AMP + 2 diphosphate + H(+); Xref=Rhea:RHEA:54564, Rhea:RHEA-COMP:14193, Rhea:RHEA- COMP:14917, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:37565, ChEBI:CHEBI:138282, ChEBI:CHEBI:141847, ChEBI:CHEBI:456215; EC=2.7.7.79; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Note=Binds 2 magnesium ions per subunit. ; Homotetramer. Interacts with MFN1 and MFN2; functions as a guanyl-nucleotide exchange factor/GEF for MFN2 and also probably MFN1. Cytoplasm. Mitochondrion Belongs to the tRNA(His) guanylyltransferase family. nucleotide binding magnesium ion binding ATP binding GTP binding cytoplasm mitochondrion tRNA modification tRNA processing tRNA guanylyltransferase activity transferase activity nucleotidyltransferase activity identical protein binding metal ion binding protein homotetramerization tRNA 5'-end processing transferase complex uc007inv.1 uc007inv.2 uc007inv.3 uc007inv.4 uc007inv.5 
ENSMUST00000011400.8 Adam19 ENSMUST00000011400.8 ADAM metallopeptidase domain 19, transcript variant 1 (from RefSeq NM_009616.4) Adam19 ENSMUST00000011400.1 ENSMUST00000011400.2 ENSMUST00000011400.3 ENSMUST00000011400.4 ENSMUST00000011400.5 ENSMUST00000011400.6 ENSMUST00000011400.7 NM_009616 Q3UHT3 Q3UHT3_MOUSE uc007iny.1 uc007iny.2 uc007iny.3 uc007iny.4 This gene encodes a cell surface glycoprotein and member of the ADAM (a disintegrin and metalloproteinase) family of endopeptidases. The encoded protein may play a role in the ectodomain shedding of neuregulin proteins. Homozygous knockout mice for this gene exhibit heart development defects and perinatal lethality. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that undergoes proteolytic processing to generate a mature protein product. [provided by RefSeq, Aug 2015]. Membrane ; Single- pass type I membrane protein Lacks conserved residue(s) required for the propagation of feature annotation. metalloendopeptidase activity Golgi apparatus proteolysis membrane protein ectodomain proteolysis integrin-mediated signaling pathway metallopeptidase activity membrane integral component of membrane SH3 domain binding uc007iny.1 uc007iny.2 uc007iny.3 uc007iny.4 
ENSMUST00000011445.8 Cd209d ENSMUST00000011445.8 CD209d antigen (from RefSeq NM_130904.2) C209D_MOUSE ENSMUST00000011445.1 ENSMUST00000011445.2 ENSMUST00000011445.3 ENSMUST00000011445.4 ENSMUST00000011445.5 ENSMUST00000011445.6 ENSMUST00000011445.7 NM_130904 Q8VIK4 Q91ZW8 uc009kst.1 uc009kst.2 uc009kst.3 Probable pathogen-recognition receptor. May mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. May recognize in a calcium-dependent manner high mannose N-linked oligosaccharides in a variety of pathogen antigens. Membrane ; Single-pass type II membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q91ZW8-1; Sequence=Displayed; Name=2; IsoId=Q91ZW8-2; Sequence=VSP_010071; In mouse, 5 genes homologous to human CD209/DC-SIGN and CD209L/DC-SIGNR have been identified. Name=Functional Glycomics Gateway - Glycan Binding; Note=SIGNR3; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_mou_Ctlect_00132"; mannose binding endocytosis membrane integral component of membrane carbohydrate binding defense response to bacterium protein homodimerization activity metal ion binding positive regulation of cytokine secretion uc009kst.1 uc009kst.2 uc009kst.3 
ENSMUST00000011450.8 Sugp1 ENSMUST00000011450.8 SURP and G patch domain containing 1, transcript variant 1 (from RefSeq NM_027481.3) ENSMUST00000011450.1 ENSMUST00000011450.2 ENSMUST00000011450.3 ENSMUST00000011450.4 ENSMUST00000011450.5 ENSMUST00000011450.6 ENSMUST00000011450.7 NM_027481 Q0VAT9 Q3U0W3 Q8CH02 Q8R094 SUGP1_MOUSE Sf4 uc009lyo.1 uc009lyo.2 uc009lyo.3 Plays a role in pre-mRNA splicing. Component of the spliceosome. Nucleus nucleic acid binding RNA binding nucleus nucleoplasm spliceosomal complex RNA processing mRNA processing RNA splicing uc009lyo.1 uc009lyo.2 uc009lyo.3 
ENSMUST00000011492.15 Acad9 ENSMUST00000011492.15 acyl-Coenzyme A dehydrogenase family, member 9 (from RefSeq NM_172678.4) ACAD9_MOUSE Acad9 ENSMUST00000011492.1 ENSMUST00000011492.10 ENSMUST00000011492.11 ENSMUST00000011492.12 ENSMUST00000011492.13 ENSMUST00000011492.14 ENSMUST00000011492.2 ENSMUST00000011492.3 ENSMUST00000011492.4 ENSMUST00000011492.5 ENSMUST00000011492.6 ENSMUST00000011492.7 ENSMUST00000011492.8 ENSMUST00000011492.9 NM_172678 Q3ULL9 Q8BK76 Q8C0B5 Q8JZN5 uc008oze.1 uc008oze.2 uc008oze.3 As part of the MCIA complex, primarily participates in the assembly of the mitochondrial complex I and therefore plays a role in oxidative phosphorylation. This moonlighting protein has also a dehydrogenase activity toward a broad range of substrates with greater specificity for long-chain unsaturated acyl-CoAs. However, in vivo, it does not seem to play a primary role in fatty acid oxidation. In addition, the function in complex I assembly is independent of the dehydrogenase activity of the protein. Reaction=eicosanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-eicosenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47236, Rhea:RHEA-COMP:10685, Rhea:RHEA- COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57380, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:74691; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47237; Evidence=; Reaction=H(+) + octadecanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-octadecenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47240, Rhea:RHEA-COMP:10685, Rhea:RHEA- COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57394, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:71412; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47241; Evidence=; Reaction=H(+) + hexadecanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-hexadecenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43448, Rhea:RHEA-COMP:10685, Rhea:RHEA- COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57379, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:61526; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43449; Evidence=; Reaction=decanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-decenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48176, Rhea:RHEA-COMP:10685, Rhea:RHEA- COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:61406, ChEBI:CHEBI:61430; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48177; Evidence=; Reaction=H(+) + nonanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-nonenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48208, Rhea:RHEA-COMP:10685, Rhea:RHEA- COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:76291, ChEBI:CHEBI:76292; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48209; Evidence=; Reaction=H(+) + oxidized [electron-transfer flavoprotein] + pentadecanoyl-CoA = (2E)-pentadecenoyl-CoA + reduced [electron- transfer flavoprotein]; Xref=Rhea:RHEA:48204, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:74309, ChEBI:CHEBI:77545; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48205; Evidence=; Reaction=H(+) + oxidized [electron-transfer flavoprotein] + undecanoyl- CoA = reduced [electron-transfer flavoprotein] + trans-2-undecenoyl- CoA; Xref=Rhea:RHEA:48200, Rhea:RHEA-COMP:10685, Rhea:RHEA- COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:77547, ChEBI:CHEBI:77548; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48201; Evidence=; Reaction=(9Z)-hexadecenoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E,9Z)-hexadecadienoyl-CoA + reduced [electron- transfer flavoprotein]; Xref=Rhea:RHEA:47304, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:61540, ChEBI:CHEBI:77549; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47305; Evidence=; Reaction=H(+) + heptadecanoyl-CoA + oxidized [electron-transfer flavoprotein] = reduced [electron-transfer flavoprotein] + trans-2- heptadecenoyl-CoA; Xref=Rhea:RHEA:48196, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:74307, ChEBI:CHEBI:77551; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48197; Evidence=; Reaction=(9E)-octadecenoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E,9E)-octadecadienoyl-CoA + reduced [electron- transfer flavoprotein]; Xref=Rhea:RHEA:48192, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:77537, ChEBI:CHEBI:77552; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48193; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E,9Z)-octadecadienoyl-CoA + reduced [electron- transfer flavoprotein]; Xref=Rhea:RHEA:47300, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57387, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:77553; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47301; Evidence=; Reaction=(9Z,12Z)-octadecadienoyl-CoA + H(+) + oxidized [electron- transfer flavoprotein] = (2E,9Z,12Z)-octadecatrienoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48188, Rhea:RHEA- COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57383, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:77558; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48189; Evidence=; Reaction=(4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E,4Z,7Z,10Z,13Z,16Z,19Z)- docosaheptaenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:48184, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:74298, ChEBI:CHEBI:77559; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48185; Evidence=; Reaction=H(+) + oxidized [electron-transfer flavoprotein] + tetradecanoyl-CoA = (2E)-tetradecenoyl-CoA + reduced [electron- transfer flavoprotein]; Xref=Rhea:RHEA:47316, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57385, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:61405; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47317; Evidence=; Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Homodimer (By similarity). Interacts with NDUFAF1 and ECSIT (By similarity). Part of the mitochondrial complex I assembly/MCIA complex that comprises at least the core subunits TMEM126B, NDUFAF1, ECSIT and ACAD9 and complement subunits such as COA1 and TMEM186 (By similarity). Interacts with TMEM70 and TMEM242 (By similarity). Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side Note=Essentially associated with membranes. Belongs to the acyl-CoA dehydrogenase family. fatty-acyl-CoA binding long-chain fatty acid metabolic process acyl-CoA dehydrogenase activity long-chain-acyl-CoA dehydrogenase activity nucleus mitochondrion oxidoreductase activity oxidoreductase activity, acting on the CH-CH group of donors very-long-chain-acyl-CoA dehydrogenase activity dendrite mitochondrial membrane mitochondrial respiratory chain complex I assembly flavin adenine dinucleotide binding medium-chain fatty acid metabolic process oxidation-reduction process medium-chain-acyl-CoA dehydrogenase activity uc008oze.1 uc008oze.2 uc008oze.3 
ENSMUST00000011493.6 Dmrtc2 ENSMUST00000011493.6 doublesex and mab-3 related transcription factor like family C2 (from RefSeq NM_027732.2) A6H6T0 DMRTD_MOUSE Dmrt7 ENSMUST00000011493.1 ENSMUST00000011493.2 ENSMUST00000011493.3 ENSMUST00000011493.4 ENSMUST00000011493.5 NM_027732 Q8CGW9 uc009fqp.1 uc009fqp.2 uc009fqp.3 May be involved in sexual development. Nucleus Expressed in testis. Highly expressed in ovary. Expressed in gonads from 11.5 dpc. Belongs to the DMRT family. XY body DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated male meiosis I spermatid nucleus elongation sex differentiation cell differentiation protein homodimerization activity sequence-specific DNA binding metal ion binding positive regulation of histone H3-K9 dimethylation positive regulation of histone H3-K9 trimethylation uc009fqp.1 uc009fqp.2 uc009fqp.3 
ENSMUST00000011526.7 Dhdh ENSMUST00000011526.7 dihydrodiol dehydrogenase (from RefSeq NM_027903.4) DHDH_MOUSE ENSMUST00000011526.1 ENSMUST00000011526.2 ENSMUST00000011526.3 ENSMUST00000011526.4 ENSMUST00000011526.5 ENSMUST00000011526.6 NM_027903 Q14B09 Q9DBB8 uc009gvj.1 uc009gvj.2 uc009gvj.3 Reaction=(1R,2R)-1,2-dihydrobenzene-1,2-diol + NADP(+) = catechol + H(+) + NADPH; Xref=Rhea:RHEA:16729, ChEBI:CHEBI:10702, ChEBI:CHEBI:15378, ChEBI:CHEBI:18135, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.3.1.20; Reaction=D-xylose + NADP(+) = D-xylono-1,5-lactone + H(+) + NADPH; Xref=Rhea:RHEA:22000, ChEBI:CHEBI:15378, ChEBI:CHEBI:15867, ChEBI:CHEBI:53455, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.179; Homodimer. Belongs to the Gfo/Idh/MocA family. oxidoreductase activity D-xylose catabolic process trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity D-xylose 1-dehydrogenase (NADP+) activity oxidation-reduction process uc009gvj.1 uc009gvj.2 uc009gvj.3 
ENSMUST00000011607.6 Cpb1 ENSMUST00000011607.6 carboxypeptidase B1 (from RefSeq NM_029706.2) B2RS76 B2RS76_MOUSE Cpb1 ENSMUST00000011607.1 ENSMUST00000011607.2 ENSMUST00000011607.3 ENSMUST00000011607.4 ENSMUST00000011607.5 NM_029706 uc008osq.1 uc008osq.2 uc008osq.3 uc008osq.4 Reaction=Preferential release of a C-terminal lysine or arginine amino acid.; EC=3.4.17.2; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Secreted Zymogen granule lumen Belongs to the peptidase M14 family. carboxypeptidase activity metallocarboxypeptidase activity extracellular space proteolysis zinc ion binding uc008osq.1 uc008osq.2 uc008osq.3 uc008osq.4 
ENSMUST00000011623.9 Dennd1c ENSMUST00000011623.9 DENN domain containing 1C, transcript variant 1 (from RefSeq NM_153551.2) DEN1C_MOUSE ENSMUST00000011623.1 ENSMUST00000011623.2 ENSMUST00000011623.3 ENSMUST00000011623.4 ENSMUST00000011623.5 ENSMUST00000011623.6 ENSMUST00000011623.7 ENSMUST00000011623.8 NM_153551 Q8CFK6 Q9CXF1 uc008ddy.1 uc008ddy.2 Guanine nucleotide exchange factor (GEF) which may activate RAB8A, RAB13 and RAB35. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. Exhibits low nucleotide-independent RAB35-binding activity. Interacts with clathrin heavy chain/CLTC and with AP2A2, but not with AP2B1. Cytoplasm, cytosol Cytoplasmic vesicle, clathrin-coated vesicle Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8CFK6-1; Sequence=Displayed; Name=2; IsoId=Q8CFK6-2; Sequence=VSP_028091, VSP_028092; guanyl-nucleotide exchange factor activity cytoplasm cytosol endocytosis Rab guanyl-nucleotide exchange factor activity Rab GTPase binding clathrin-coated vesicle cytoplasmic vesicle endocytic recycling intracellular membrane-bounded organelle phosphatidylinositol phosphate binding uc008ddy.1 uc008ddy.2 
ENSMUST00000011733.9 Fsd1 ENSMUST00000011733.9 fibronectin type 3 and SPRY domain-containing protein, transcript variant 10 (from RefSeq NR_177196.1) ENSMUST00000011733.1 ENSMUST00000011733.2 ENSMUST00000011733.3 ENSMUST00000011733.4 ENSMUST00000011733.5 ENSMUST00000011733.6 ENSMUST00000011733.7 ENSMUST00000011733.8 FSD1_MOUSE NR_177196 Q3UNE6 Q7TPM6 uc008dan.1 uc008dan.2 May be involved in microtubule organization and stabilization. Oligomerization is required for binding to microtubules. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Nucleus Cytoplasm Cleavage furrow Note=Cell-cycle-dependent association with the centrosome. Colocalizes with a subpopulation of microtubules. Does not associate with microtubules during mitosis but reassociates with microtubules during cytokinesis. Localizes to the central portions of a small subset of microtubules in interphase cells and a subpopulation of microtubules in the cleavage furrow, not present in the mitotic spindle (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7TPM6-1; Sequence=Displayed; Name=2; IsoId=Q7TPM6-2; Sequence=VSP_030767; B30.2 box contains a microtubule-binding site. nucleus cytoplasm centrosome microtubule organizing center cytoskeleton microtubule cell cycle microtubule binding cytoplasmic microtubule organization cleavage furrow regulation of cytokinesis protein homodimerization activity protein homooligomerization cell division regulation of cell division regulation of mitotic spindle organization uc008dan.1 uc008dan.2 
ENSMUST00000011776.8 Pinlyp ENSMUST00000011776.8 phospholipase A2 inhibitor and LY6/PLAUR domain containing (from RefSeq NM_001037143.3) ENSMUST00000011776.1 ENSMUST00000011776.2 ENSMUST00000011776.3 ENSMUST00000011776.4 ENSMUST00000011776.5 ENSMUST00000011776.6 ENSMUST00000011776.7 NM_001037143 PINLY_MOUSE Q9CQD7 Q9D6V5 uc009fpw.1 uc009fpw.2 uc009fpw.3 Secreted Belongs to the CNF-like-inhibitor family. molecular_function phospholipase inhibitor activity cellular_component extracellular region biological_process negative regulation of catalytic activity uc009fpw.1 uc009fpw.2 uc009fpw.3 
ENSMUST00000011895.14 Sptbn4 ENSMUST00000011895.14 spectrin beta, non-erythrocytic 4, transcript variant sigma1 (from RefSeq NM_032610.2) E9PX29 E9PX29_MOUSE ENSMUST00000011895.1 ENSMUST00000011895.10 ENSMUST00000011895.11 ENSMUST00000011895.12 ENSMUST00000011895.13 ENSMUST00000011895.2 ENSMUST00000011895.3 ENSMUST00000011895.4 ENSMUST00000011895.5 ENSMUST00000011895.6 ENSMUST00000011895.7 ENSMUST00000011895.8 ENSMUST00000011895.9 NM_032610 Spnb4 Sptbn4 uc009fwc.1 uc009fwc.2 uc009fwc.3 Belongs to the spectrin family. regulation of sodium ion transport actin binding structural constituent of cytoskeleton protein binding phospholipid binding cytoplasm cytoskeleton cytoskeleton organization axonogenesis sensory perception of sound adult walking behavior spectrin fertilization negative regulation of heart rate intercalated disc membrane nuclear matrix PML body transmission of nerve impulse phosphatase binding central nervous system projection neuron axonogenesis reproductive process axon ankyrin binding spectrin binding adult behavior regulation of peptidyl-serine phosphorylation node of Ranvier paranode region of axon cellular protein localization positive regulation of multicellular organism growth neuronal cell body axon initial segment axon hillock clustering of voltage-gated sodium channels actin filament capping cardiac conduction cell body fiber uc009fwc.1 uc009fwc.2 uc009fwc.3 
ENSMUST00000011896.8 Pgam1 ENSMUST00000011896.8 phosphoglycerate mutase 1 (from RefSeq NM_023418.2) ENSMUST00000011896.1 ENSMUST00000011896.2 ENSMUST00000011896.3 ENSMUST00000011896.4 ENSMUST00000011896.5 ENSMUST00000011896.6 ENSMUST00000011896.7 NM_023418 PGAM1_MOUSE Pgam1 Q9D6W0 Q9DBJ1 Q9ERT3 uc008hml.1 uc008hml.2 uc008hml.3 uc008hml.4 Catalyzes the interconversion of 2-phosphoglycerate and 3- phosphoglyceratea crucial step in glycolysis, by using 2,3- bisphosphoglycerate. Also catalyzes the interconversion of (2R)-2,3- bisphosphoglycerate and (2R)-3-phospho-glyceroyl phosphate. Reaction=(2R)-2-phosphoglycerate = (2R)-3-phosphoglycerate; Xref=Rhea:RHEA:15901, ChEBI:CHEBI:58272, ChEBI:CHEBI:58289; EC=5.4.2.11; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:15903; Evidence=; Reaction=(2R)-3-phospho-glyceroyl phosphate = (2R)-2,3- bisphosphoglycerate + H(+); Xref=Rhea:RHEA:17765, ChEBI:CHEBI:15378, ChEBI:CHEBI:57604, ChEBI:CHEBI:58248; EC=5.4.2.4; Evidence=; Homodimer. Acetylated at Lys-253, Lys-253 and Lys-254 under high glucose condition. Acetylation increases catalytic activity. Under glucose restriction SIRT1 levels dramatically increase and it deacetylates the enzyme (By similarity). Belongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily. catalytic activity bisphosphoglycerate mutase activity phosphoglycerate mutase activity nucleus cytoplasm cytosol glycolytic process regulation of glycolytic process hydrolase activity isomerase activity intramolecular transferase activity, phosphotransferases protein kinase binding myelin sheath regulation of pentose-phosphate shunt respiratory burst uc008hml.1 uc008hml.2 uc008hml.3 uc008hml.4 
ENSMUST00000011981.5 Snapc2 ENSMUST00000011981.5 small nuclear RNA activating complex, polypeptide 2 (from RefSeq NM_133968.1) ENSMUST00000011981.1 ENSMUST00000011981.2 ENSMUST00000011981.3 ENSMUST00000011981.4 NM_133968 Q3UK17 Q8CBS9 Q91XA5 SNPC2_MOUSE uc009kto.1 uc009kto.2 uc009kto.3 Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box (By similarity). Part of the SNAPc complex composed of 5 subunits: SNAPC1, SNAPC2, SNAPC3, SNAPC4 and SNAPC5. SNAPC2 interacts with TBP and SNAPC4 (By similarity). Nucleus molecular_function nucleus nucleoplasm cytosol biological_process nuclear body uc009kto.1 uc009kto.2 uc009kto.3 
ENSMUST00000012028.14 Gltp ENSMUST00000012028.14 glycolipid transfer protein (from RefSeq NM_019821.2) ENSMUST00000012028.1 ENSMUST00000012028.10 ENSMUST00000012028.11 ENSMUST00000012028.12 ENSMUST00000012028.13 ENSMUST00000012028.2 ENSMUST00000012028.3 ENSMUST00000012028.4 ENSMUST00000012028.5 ENSMUST00000012028.6 ENSMUST00000012028.7 ENSMUST00000012028.8 ENSMUST00000012028.9 GLTP_MOUSE NM_019821 Q91YJ7 Q9CTK9 Q9JL62 uc008yzw.1 uc008yzw.2 uc008yzw.3 uc008yzw.4 uc008yzw.5 Accelerates the intermembrane transfer of various glycolipids. Catalyzes the transfer of various glycosphingolipids between membranes but does not catalyze the transfer of phospholipids. May be involved in the intracellular translocation of glucosylceramides (By similarity). Monomer. Cytoplasm Belongs to the GLTP family. cytoplasm cytosol lipid transport lipid binding ceramide transport identical protein binding glycolipid binding ceramide 1-phosphate binding ceramide 1-phosphate transporter activity ceramide 1-phosphate transport uc008yzw.1 uc008yzw.2 uc008yzw.3 uc008yzw.4 uc008yzw.5 
ENSMUST00000012152.13 Dgcr2 ENSMUST00000012152.13 DiGeorge syndrome critical region gene 2, transcript variant 1 (from RefSeq NM_010048.3) Dgcr2 ENSMUST00000012152.1 ENSMUST00000012152.10 ENSMUST00000012152.11 ENSMUST00000012152.12 ENSMUST00000012152.2 ENSMUST00000012152.3 ENSMUST00000012152.4 ENSMUST00000012152.5 ENSMUST00000012152.6 ENSMUST00000012152.7 ENSMUST00000012152.8 ENSMUST00000012152.9 NM_010048 Q6P5A9 Q6P5A9_MOUSE uc033gyb.1 uc033gyb.2 uc033gyb.3 uc033gyb.4 Lacks conserved residue(s) required for the propagation of feature annotation. membrane integral component of membrane uc033gyb.1 uc033gyb.2 uc033gyb.3 uc033gyb.4 
ENSMUST00000012161.5 Scarf2 ENSMUST00000012161.5 scavenger receptor class F, member 2 (from RefSeq NM_153790.3) ENSMUST00000012161.1 ENSMUST00000012161.2 ENSMUST00000012161.3 ENSMUST00000012161.4 NM_153790 NSR1 Q58A84 Q58A84_MOUSE Scarf2 uc007ymd.1 uc007ymd.2 uc007ymd.3 Lacks conserved residue(s) required for the propagation of feature annotation. heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules uc007ymd.1 uc007ymd.2 uc007ymd.3 
ENSMUST00000012259.9 Med15 ENSMUST00000012259.9 mediator complex subunit 15, transcript variant 1 (from RefSeq NM_033609.3) ENSMUST00000012259.1 ENSMUST00000012259.2 ENSMUST00000012259.3 ENSMUST00000012259.4 ENSMUST00000012259.5 ENSMUST00000012259.6 ENSMUST00000012259.7 ENSMUST00000012259.8 G3X8S4 MED15_MOUSE NM_033609 Pcqap Q924H2 uc007yls.1 uc007yls.2 uc007yls.3 uc007yls.4 Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. Required for cholesterol- dependent gene regulation. Positively regulates the Nodal signaling pathway (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with SMAD2, SMAD3, SREBF1 and SREBF2. Interacts with WWTR1 (By similarity). Interacts with TRIM11 (By similarity). Cytoplasm Nucleus At 9.5 dpc ubiquitously expressed at low levels with slightly elevated levels in the pharyngeal arches and in the forelimb buds. At 10.5 dpc expression was more pronounced in the first and second pharyngeal arches, the nasal processes and the limb buds. At 11.5 dpc expression is high in frontonasal region, maxillary and mandibular processes of the first and second pharyngeal arch and developing fore and hindlimbs. From 11.5 dpc-12.5 dpc expression is seen in the distal parts of the developing limbs and in the facial region. At 12.5 dpc transcripts were found in the developing hair follicles of the vibrissae. Ubiquitinated by TRIM11, leading to proteasomal degradation. Belongs to the Mediator complex subunit 15 family. Sequence=AAK58424.1; Type=Frameshift; Evidence=; transcription cofactor activity nucleus nucleoplasm cytoplasm regulation of transcription from RNA polymerase II promoter mediator complex stem cell population maintenance uc007yls.1 uc007yls.2 uc007yls.3 uc007yls.4 
ENSMUST00000012279.6 Gsc2 ENSMUST00000012279.6 goosecoid homebox 2 (from RefSeq NM_029469.2) A2RTU1 ENSMUST00000012279.1 ENSMUST00000012279.2 ENSMUST00000012279.3 ENSMUST00000012279.4 ENSMUST00000012279.5 GSC2_MOUSE Gscl NM_029469 P56916 Q05A98 uc289dar.1 uc289dar.2 May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC. Nucleus Expressed in adult testis. Has a biphasic expression. Present in embryos in 8.5-10.5 dpc, reduced levels in 11.5 dpc and 13.5 dpc and absent in 15.5 dpc. Found in some adult tissues. Belongs to the paired homeobox family. Bicoid subfamily. Sequence=AAI32638.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding uc289dar.1 uc289dar.2 
ENSMUST00000012281.8 Bmp5 ENSMUST00000012281.8 bone morphogenetic protein 5 (from RefSeq NM_007555.4) BMP5_MOUSE Bmp-5 ENSMUST00000012281.1 ENSMUST00000012281.2 ENSMUST00000012281.3 ENSMUST00000012281.4 ENSMUST00000012281.5 ENSMUST00000012281.6 ENSMUST00000012281.7 NM_007555 P49003 Q8CCE0 uc009qsu.1 uc009qsu.2 uc009qsu.3 uc009qsu.4 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Mice with null mutations in this gene exhibit a short ear phenotype, which is characterized by reduced size of the external ear, altered size and shape of the sternum, and other skeletal and soft-tissue abnormalities. [provided by RefSeq, Jul 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660813.230095.1, AK160412.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849377, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cartilage and bone formation or neurogenesis (PubMed:7958439, PubMed:29321139). Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2. In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. Can also signal through non-canonical pathway such as MAPK p38 signaling cascade to promote chondrogenic differentiation (By similarity). Promotes the expression of HAMP, this is repressed by its interaction with ERFE (PubMed:30097509). Interacts with ERFE; the interaction inhibits BMP-induced transcription of HAMP. Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P49003-1; Sequence=Displayed; Name=2; IsoId=P49003-2; Sequence=VSP_044321; Deletion mutant mice show a number of skeletal defects, including small ears, several reduced vertebral processes, and a reduced number of ribs and sesamoid bones (PubMed:7958439). BMP5/7- deficient mice lack midbrain dopaminergic neurons due to reduced neurogenesis in the midbrain dopaminergic progenitor domain (PubMed:29321139). Belongs to the TGF-beta family. skeletal system development ossification endocardial cushion formation type B pancreatic cell development pericardium morphogenesis cytokine activity transforming growth factor beta receptor binding protein binding extracellular region extracellular space multicellular organism development pattern specification process growth factor activity positive regulation of cell proliferation negative regulation of cell proliferation positive regulation of pathway-restricted SMAD protein phosphorylation negative regulation of steroid biosynthetic process neural fold elevation formation cell differentiation male genitalia development hindbrain development vesicle negative regulation of aldosterone biosynthetic process regulation of apoptotic process regulation of MAPK cascade negative regulation of insulin-like growth factor receptor signaling pathway ear development positive regulation of transcription from RNA polymerase II promoter cell development cardiac muscle tissue development positive regulation of epithelial cell proliferation cartilage development pharyngeal system development SMAD protein signal transduction cardiac septum morphogenesis chorio-allantoic fusion heart trabecula morphogenesis BMP receptor binding anterior head development positive regulation of dendrite development allantois development negative regulation of cortisol biosynthetic process uc009qsu.1 uc009qsu.2 uc009qsu.3 uc009qsu.4 
ENSMUST00000012314.10 Zfp729a ENSMUST00000012314.10 zinc finger protein 729a, transcript variant 1 (from RefSeq NM_183146.5) A530054K11Rik ENSMUST00000012314.1 ENSMUST00000012314.2 ENSMUST00000012314.3 ENSMUST00000012314.4 ENSMUST00000012314.5 ENSMUST00000012314.6 ENSMUST00000012314.7 ENSMUST00000012314.8 ENSMUST00000012314.9 NM_183146 Q4QQP3 Q4QQP3_MOUSE Zfp729a uc007rbh.1 uc007rbh.2 uc007rbh.3 nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated biological_process metal ion binding uc007rbh.1 uc007rbh.2 uc007rbh.3 
ENSMUST00000012348.9 Gstm2 ENSMUST00000012348.9 glutathione S-transferase, mu 2 (from RefSeq NM_008183.4) ENSMUST00000012348.1 ENSMUST00000012348.2 ENSMUST00000012348.3 ENSMUST00000012348.4 ENSMUST00000012348.5 ENSMUST00000012348.6 ENSMUST00000012348.7 ENSMUST00000012348.8 GSTM2_MOUSE Gstm2 NM_008183 P15626 uc008qxw.1 uc008qxw.2 uc008qxw.3 Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Participates in the formation of novel hepoxilin regioisomers. Reaction=glutathione + RX = a halide anion + an S-substituted glutathione + H(+); Xref=Rhea:RHEA:16437, ChEBI:CHEBI:15378, ChEBI:CHEBI:16042, ChEBI:CHEBI:17792, ChEBI:CHEBI:57925, ChEBI:CHEBI:90779; EC=2.5.1.18; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16438; Evidence=; Reaction=11(S)-hydroxy-14(S),15(S)-epoxy-(5Z,8Z,12E)-eicosatrienoate + glutathione = (11S,15S)-dihydroxy-14(R)-S-glutathionyl-(5Z,8Z,12E)- eicosatrienoate; Xref=Rhea:RHEA:50260, ChEBI:CHEBI:57925, ChEBI:CHEBI:132200, ChEBI:CHEBI:132201; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50261; Evidence=; Homodimer. Cytoplasm. Belongs to the GST superfamily. Mu family. glutathione transferase activity protein binding cytoplasm cytosol plasma membrane glutathione metabolic process transferase activity nitrobenzene metabolic process enzyme binding macromolecular complex xenobiotic catabolic process protein homodimerization activity glutathione binding intercellular bridge cellular detoxification of nitrogen compound uc008qxw.1 uc008qxw.2 uc008qxw.3 
ENSMUST00000012426.3 Wnt8a ENSMUST00000012426.3 wingless-type MMTV integration site family, member 8A (from RefSeq NM_009290.3) E9QL90 ENSMUST00000012426.1 ENSMUST00000012426.2 NM_009290 Q64527 Stra11 WNT8A_MOUSE Wnt8d uc008ekq.1 uc008ekq.2 uc008ekq.3 uc008ekq.4 Ligand for members of the frizzled family of seven transmembrane receptors. Plays a role in embryonic patterning. Forms a soluble 1:1 complex with AFM; this prevents oligomerization and is required for prolonged biological activity. The complex with AFM may represent the physiological form in body fluids. Secreted, extracellular space, extracellular matrix Secreted Expression in early stages of embryogenesis. Expression begins in the posterior region of early primitive streak- stage embryos and after it spreads into the embryonic ectoderm up to a sharp rostral boundary at the base of the developing headfolds. Expressed transiently in the newly formed mesoderm. Expression is down- regulated during somitogenesis. The expression is highly restricted during gastrulation and neurulation, both temporally and spatially. By retinoic acid. Palmitoleoylation is required for efficient binding to frizzled receptors (By similarity). Depalmitoleoylation leads to Wnt signaling pathway inhibition (By similarity). Proteolytic processing by TIKI1 and TIKI2 promotes oxidation and formation of large disulfide-bond oligomers, leading to inactivation of WNT8A. Belongs to the Wnt family. cell morphogenesis regionalization receptor binding frizzled binding protein binding extracellular region extracellular space multicellular organism development endoderm development polarity specification of anterior/posterior axis polarity specification of proximal/distal axis Wnt signaling pathway neuron differentiation regulation of protein localization cell fate commitment receptor agonist activity establishment of animal organ orientation canonical Wnt signaling pathway uc008ekq.1 uc008ekq.2 uc008ekq.3 uc008ekq.4 
ENSMUST00000012540.5 Nanog ENSMUST00000012540.5 Nanog homeobox, transcript variant 1 (from RefSeq NM_028016.3) ENSMUST00000012540.1 ENSMUST00000012540.2 ENSMUST00000012540.3 ENSMUST00000012540.4 Ecat4 Enk NANOG_MOUSE NM_028016 Q6SMR1 Q7TN85 Q80Z64 uc029vyl.1 uc029vyl.2 uc029vyl.3 uc029vyl.4 The protein encoded by this gene is a DNA binding homeobox transcription factor involved in embryonic stem (ES) cell proliferation, renewal, and pluripotency. The encoded protein can block ES cell differentiation and can also autorepress its own expression in differentiating cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. Transcription regulator involved in inner cell mass and embryonic stem (ES) cells proliferation and self-renewal (PubMed:25825768). Imposes pluripotency on ES cells and prevents their differentiation towards extraembryonic endoderm and trophectoderm lineages. Blocks bone morphogenetic protein-induced mesoderm differentiation of ES cells by physically interacting with SMAD1 and interfering with the recruitment of coactivators to the active SMAD transcriptional complexes. Acts as a transcriptional activator or repressor. Binds optimally to the DNA consensus sequence 5'- TAAT[GT][GT]-3' or 5'-[CG][GA][CG]C[GC]ATTAN[GC]-3'. Binds to the POU5F1/OCT4 promoter (By similarity). Able to autorepress its expression in differentiating (ES) cells: binds to its own promoter following interaction with ZNF281/ZFP281, leading to recruitment of the NuRD complex and subsequent repression of expression. When overexpressed, promotes cells to enter into S phase and proliferation. Interacts with SMAD1 (PubMed:16801560). Interacts with SALL4 (PubMed:16840789). Interacts with ZNF281/ZFP281 (PubMed:21915945, PubMed:22988117). Interacts with PCGF1 (By similarity). Interacts with ESRRB; reciprocally modulates their transcriptional activities (PubMed:18957414). Interacts with NSD2 (PubMed:19483677). Q80Z64; Q61066: Nr0b1; NbExp=7; IntAct=EBI-2312517, EBI-2312665; Q80Z64; Q9QUR7: Pin1; NbExp=2; IntAct=EBI-2312517, EBI-2432975; Q80Z64; P20263: Pou5f1; NbExp=4; IntAct=EBI-2312517, EBI-1606219; Q80Z64; Q6PR54: Rif1; NbExp=5; IntAct=EBI-2312517, EBI-2312621; Q80Z64; P70414: Slc8a1; NbExp=9; IntAct=EBI-2312517, EBI-2312694; Q80Z64; P48432: Sox2; NbExp=10; IntAct=EBI-2312517, EBI-2313612; Q80Z64; Q99LI5: Znf281; NbExp=5; IntAct=EBI-2312517, EBI-2312719; Q80Z64-1; Q80Z64-1: Nanog; NbExp=2; IntAct=EBI-15699014, EBI-15699014; Q80Z64-1; P62991: Ubc; NbExp=3; IntAct=EBI-15699014, EBI-413074; Q80Z64-1; Q13526: PIN1; Xeno; NbExp=2; IntAct=EBI-15699014, EBI-714158; Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q80Z64-1; Sequence=Displayed; Name=2; Synonyms=Nanog1a, Nanog1b; IsoId=Q80Z64-2; Sequence=VSP_021689; Not expressed in oocytes and spermatogonia (at protein level). Not expressed in many somatic organs, ovary, testis, fibroblast and hematopoietic cell lines. Expressed in the central portion of the morula, the inner cell mass (ICM) of the blastocyst, in embryonic stem (ES) and embryonic germ (EG) cells, in the epiblast between 6.5 and 7.5 dpc, in primordial germ cells (PGCs) between 7.75 and 12.5 dpc (at protein level). The expression in PGCs decreases in female germ cells that entered meiosis at 13.5 dpc and in male germ cells that entered mitotic arrest at 14.5 dpc (at protein level). Not expressed in unfertilized eggs or 2- or 8-cell-stage embryos (at protein level). Expressed in the central portion of the morula, the inner cell mass (ICM) of the blastocyst, in ES and EG cells, in the epiblast at 6 dpc and in PGCs of genital ridges between 11.5 and 12.5 dpc. Expression decreases with ES differentiation. By the transcription factor POU5F1 in ES cells that acts as a direct biphasic regulator: a steady-state concentration of POU5F1 up- regulated its expression, while an elevated concentration of POU5F1 down-regulated its expression. Up-regulated by the transcription factor FOXD3. Up-regulated in ES cells by transcription factors T (Brachyury) and STAT3. Down-regulated by p53 in response to DNA damage induced by ultraviolet light (UV) or doxorubicin. Down-regulated upon ES differentiation by mediating autorepression through interaction with ZNF281/ZFP281. Loss of pluripotency in both ICM and ES cells and differentiated into extraembryonic (parietal and visceral) endoderm lineage. 'Nanog' is derived from 'Tir nan Og' the mythologic Celtic land of the ever young. Belongs to the Nanog homeobox family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity, sequence-specific DNA binding transcription factor recruiting enhancer sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding mesodermal cell fate commitment endodermal cell fate specification DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding transcription corepressor activity protein binding nucleus nucleoplasm nucleolus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development transcription factor binding positive regulation of cell proliferation gonad development embryonic pattern specification response to organic substance negative regulation of cell fate commitment regulation of gene expression stem cell division stem cell population maintenance negative regulation of BMP signaling pathway response to retinoic acid somatic stem cell population maintenance negative regulation of endodermal cell fate specification identical protein binding sequence-specific DNA binding cell dedifferentiation transcription regulatory region DNA binding regulation of cell differentiation negative regulation of cell differentiation positive regulation of transcription, DNA-templated positive regulation of mitotic cell cycle positive regulation of transcription from RNA polymerase II promoter stem cell differentiation regulation of stem cell division positive regulation of stem cell proliferation condensed chromosome uc029vyl.1 uc029vyl.2 uc029vyl.3 uc029vyl.4 
ENSMUST00000012580.13 Hps3 ENSMUST00000012580.13 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1, transcript variant 12 (from RefSeq NR_176915.1) Coa ENSMUST00000012580.1 ENSMUST00000012580.10 ENSMUST00000012580.11 ENSMUST00000012580.12 ENSMUST00000012580.2 ENSMUST00000012580.3 ENSMUST00000012580.4 ENSMUST00000012580.5 ENSMUST00000012580.6 ENSMUST00000012580.7 ENSMUST00000012580.8 ENSMUST00000012580.9 HPS3_MOUSE NR_176915 Q6GTD8 Q8VDX2 Q8VHT1 Q91VB4 uc008osf.1 uc008osf.2 uc008osf.3 uc008osf.4 Involved in early stages of melanosome biogenesis and maturation. Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Interacts with HPS5 and HPS6. Cytoplasm Cytoplasm, cytosol Found in heart, brain, spleen, liver, lung, kidney and testis. Note=Defects in Hps3 are the cause of the cocoa (coa) mutant, which is characterized by hypopigmentation and platelet dysfunction (PubMed:11707070). cytoplasm cytosol organelle organization BLOC-2 complex pigmentation uc008osf.1 uc008osf.2 uc008osf.3 uc008osf.4 
ENSMUST00000012587.4 Kif11 ENSMUST00000012587.4 kinesin family member 11 (from RefSeq NM_010615.2) ENSMUST00000012587.1 ENSMUST00000012587.2 ENSMUST00000012587.3 KIF11_MOUSE NM_010615 Q6P9P6 Q9Z1J0 uc008hin.1 uc008hin.2 Motor protein required for establishing a bipolar spindle during mitosis. Required in non-mitotic cells for transport of secretory proteins from the Golgi complex to the cell surface. Interacts with the thyroid hormone receptor in the presence of thyroid hormone. Component of a large chromatin remodeling complex, at least composed of MYSM1, PCAF, RBM10 and KIF11/TRIP5. Interacts with RARRES1 and AGBL2 (By similarity). Cytoplasm Cytoplasm, cytoskeleton, spindle pole Phosphorylated exclusively on serine during S phase, but on both serine and Thr-925 during mitosis, so controlling the association of KIF11 with the spindle apparatus (probably during early prophase). Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. BimC subfamily. nucleotide binding spindle pole microtubule motor activity ATP binding nucleus cytoplasm spindle cytosol cytoskeleton kinesin complex microtubule spindle microtubule microtubule-based movement cell cycle spindle organization mitotic centrosome separation microtubule binding ATP-dependent microtubule motor activity, plus-end-directed ATPase activity protein kinase binding macromolecular complex regulation of mitotic centrosome separation spindle assembly cell division mitotic spindle mitotic spindle assembly uc008hin.1 uc008hin.2 
ENSMUST00000012627.5 Rpa3 ENSMUST00000012627.5 replication protein A3 (from RefSeq NM_026632.4) ENSMUST00000012627.1 ENSMUST00000012627.2 ENSMUST00000012627.3 ENSMUST00000012627.4 NM_026632 Q9CQ71 RFA3_MOUSE uc009axl.1 uc009axl.2 uc009axl.3 uc009axl.4 As part of the heterotrimeric replication protein A complex (RPA/RP-A), binds and stabilizes single-stranded DNA intermediates, that form during DNA replication or upon DNA stress. It prevents their reannealing and in parallel, recruits and activates different proteins and complexes involved in DNA metabolism. Thereby, it plays an essential role both in DNA replication and the cellular response to DNA damage. In the cellular response to DNA damage, the RPA complex controls DNA repair and DNA damage checkpoint activation. Through recruitment of ATRIP activates the ATR kinase a master regulator of the DNA damage response. It is required for the recruitment of the DNA double-strand break repair factors RAD51 and RAD52 to chromatin, in response to DNA damage. Also recruits to sites of DNA damage proteins like XPA and XPG that are involved in nucleotide excision repair and is required for this mechanism of DNA repair. Also plays a role in base excision repair (BER), probably through interaction with UNG. Also recruits SMARCAL1/HARP, which is involved in replication fork restart, to sites of DNA damage. May also play a role in telomere maintenance. RPA3 has its own single-stranded DNA-binding activity and may be responsible for polarity of the binding of the complex to DNA. Component of the canonical replication protein A complex (RPA), a heterotrimer composed of RPA1, RPA2 and RPA3. Also a component of the aRPA, the alternative replication protein A complex, a trimeric complex similar to the replication protein A complex/RPA but where RPA1 and RPA3 are associated with RPA4 instead of RPA2 (By similarity). Nucleus Ubiquitinated by RFWD3 at stalled replication forks in response to DNA damage: ubiquitination by RFWD3 does not lead to degradation by the proteasome and promotes removal of the RPA complex from stalled replication forks, promoting homologous recombination. Belongs to the replication factor A protein 3 family. double-strand break repair via homologous recombination DNA binding damaged DNA binding single-stranded DNA binding nucleus nucleoplasm DNA replication factor A complex DNA replication DNA repair base-excision repair nucleotide-excision repair mismatch repair DNA recombination cellular response to DNA damage stimulus regulation of mitotic cell cycle site of double-strand break regulation of cell proliferation uc009axl.1 uc009axl.2 uc009axl.3 uc009axl.4 
ENSMUST00000012664.11 Phox2b ENSMUST00000012664.11 paired-like homeobox 2b (from RefSeq NM_008888.4) ENSMUST00000012664.1 ENSMUST00000012664.10 ENSMUST00000012664.2 ENSMUST00000012664.3 ENSMUST00000012664.4 ENSMUST00000012664.5 ENSMUST00000012664.6 ENSMUST00000012664.7 ENSMUST00000012664.8 ENSMUST00000012664.9 NM_008888 O35690 PHX2B_MOUSE Pmx2b uc008xpm.1 uc008xpm.2 uc008xpm.3 Interacts with TRIM11. Nucleus Belongs to the paired homeobox family. nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding neuron migration regulation of respiratory gaseous exchange by neurological system process noradrenergic neuron differentiation noradrenergic neuron development brainstem development DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development nervous system development negative regulation of cell proliferation glial cell differentiation regulation of gene expression cell differentiation in hindbrain medullary reticular formation development hindbrain tangential cell migration neuron differentiation skeletal muscle cell differentiation sequence-specific DNA binding negative regulation of neuron differentiation positive regulation of neuron differentiation positive regulation of transcription from RNA polymerase II promoter cell development autonomic nervous system development enteric nervous system development sympathetic nervous system development parasympathetic nervous system development inner ear development efferent axon development in a lateral line nerve respiratory system development retrotrapezoid nucleus neuron differentiation sympathetic ganglion development dopaminergic neuron differentiation cellular response to BMP stimulus neural crest cell migration involved in autonomic nervous system development uc008xpm.1 uc008xpm.2 uc008xpm.3 
ENSMUST00000012679.15 Tnpo3 ENSMUST00000012679.15 transportin 3, transcript variant 1 (from RefSeq NM_177296.5) ENSMUST00000012679.1 ENSMUST00000012679.10 ENSMUST00000012679.11 ENSMUST00000012679.12 ENSMUST00000012679.13 ENSMUST00000012679.14 ENSMUST00000012679.2 ENSMUST00000012679.3 ENSMUST00000012679.4 ENSMUST00000012679.5 ENSMUST00000012679.6 ENSMUST00000012679.7 ENSMUST00000012679.8 ENSMUST00000012679.9 NM_177296 Q6P2B1 Q7TSL6 Q8BKX4 Q8BP42 TNPO3_MOUSE Tnpo3 uc009bdy.1 uc009bdy.2 uc009bdy.3 Importin, which transports target proteins into the nucleus. Specifically mediates the nuclear import of splicing factor serine/arginine (SR) proteins, such as RBM4, SFRS1 and SFRS2, by recognizing phosphorylated SR domains. Also mediates the nuclear import of serine/arginine (SR) protein CPSF6, independently of CPSF6 phosphorylation. The nuclear import process is regulated by the small GTPase Ran that partitions between cytoplasm and nucleus in the predominantly GDP- and GTP-bound form, respectively. Importin associates with target cargo proteins in the cytoplasm, and the competitive binding of GTP-bound Ran induces the release of cargos in the nucleus. Interacts with (GTP-bound) Ran. Interacts with (phosphorylated) SFRS1 and SFRS2; leading to their nuclear import. Interacts with NUP62. Interacts with RBM4. Interacts with CPSF6, promoting its nuclear import. Nucleus envelope Cytoplasm Note=Localizes to the nuclear envelope and annulate lamellae, which consists in stacks of endoplasmic reticulum membranes containing a high density of nuclear pores. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6P2B1-1; Sequence=Displayed; Name=2; IsoId=Q6P2B1-2; Sequence=VSP_011179; Name=3; IsoId=Q6P2B1-3; Sequence=VSP_019595, VSP_019596; nucleus cytoplasm protein import into nucleus protein transport identical protein binding intracellular membrane-bounded organelle uc009bdy.1 uc009bdy.2 uc009bdy.3 
ENSMUST00000012798.14 Siglecf ENSMUST00000012798.14 sialic acid binding Ig-like lectin F, transcript variant 1 (from RefSeq NM_145581.2) ENSMUST00000012798.1 ENSMUST00000012798.10 ENSMUST00000012798.11 ENSMUST00000012798.12 ENSMUST00000012798.13 ENSMUST00000012798.2 ENSMUST00000012798.3 ENSMUST00000012798.4 ENSMUST00000012798.5 ENSMUST00000012798.6 ENSMUST00000012798.7 ENSMUST00000012798.8 ENSMUST00000012798.9 NM_145581 Q920G3 SIGL5_MOUSE Siglec5 uc009gmm.1 uc009gmm.2 uc009gmm.3 Putative adhesion molecule that mediates sialic-acid dependent binding to cells. Preferentially binds to alpha-2,3-linked sialic acid. The sialic acid recognition site may be masked by cis interactions with sialic acids on the same cell surface. Membrane; Single-pass type I membrane protein. Predominantly expressed by immature monocytic/myeloid lineage cells in bone marrow. Also found at lower levels in mature neutrophils and monocytes. Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. The phosphorylated ITIM motif can bind the SH2 domain of several SH2-containing phosphatases. Belongs to the immunoglobulin superfamily. SIGLEC (sialic acid binding Ig-like lectin) family. Name=Functional Glycomics Gateway - Glycan Binding; Note=Siglec-F; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_mou_Itlect_198"; lysosome cell adhesion membrane integral component of membrane regulation of endocytosis carbohydrate binding sialic acid binding monosaccharide binding uc009gmm.1 uc009gmm.2 uc009gmm.3 
ENSMUST00000012847.3 Cd209a ENSMUST00000012847.3 CD209a antigen (from RefSeq NM_133238.5) C209A_MOUSE Cire ENSMUST00000012847.1 ENSMUST00000012847.2 NM_133238 Q3TAT9 Q91ZW5 Q91ZX1 uc009ksq.1 uc009ksq.2 uc009ksq.3 uc009ksq.4 Probable pathogen-recognition receptor. May mediate the endocytosis of pathogens which are subsequently degraded in lysosomal compartments. May recognize in a calcium-dependent manner high mannose N-linked oligosaccharides in a variety of pathogen antigens. Membrane ; Single-pass type II membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q91ZX1-1; Sequence=Displayed; Name=2; Synonyms=neck-less; IsoId=Q91ZX1-2; Sequence=VSP_010067; Predominantly expressed in dendritic cells. Detected at very low levels in lung, spleen, lymph nodes and bone marrow. Down-regulated upon activation of dendritic cells. In mouse, 5 genes homologous to human CD209/DC-SIGN and CD209L/DC-SIGNR have been identified. Mouse CD209A product was named DC-SIGN by PubMed:11581173 because of its similar expression pattern and chromosomal location in juxtaposition to CD23, but despite of the low sequence similarity. Name=Functional Glycomics Gateway - Glycan Binding; Note=SIGNR5; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_mou_Ctlect_00130"; virus receptor activity mannose binding endocytosis cell surface membrane integral component of membrane carbohydrate binding regulation of T cell proliferation viral entry into host cell metal ion binding calcium-dependent protein binding carbohydrate derivative binding uc009ksq.1 uc009ksq.2 uc009ksq.3 uc009ksq.4 
ENSMUST00000012849.15 Retn ENSMUST00000012849.15 resistin, transcript variant 2 (from RefSeq NM_001204959.1) ENSMUST00000012849.1 ENSMUST00000012849.10 ENSMUST00000012849.11 ENSMUST00000012849.12 ENSMUST00000012849.13 ENSMUST00000012849.14 ENSMUST00000012849.2 ENSMUST00000012849.3 ENSMUST00000012849.4 ENSMUST00000012849.5 ENSMUST00000012849.6 ENSMUST00000012849.7 ENSMUST00000012849.8 ENSMUST00000012849.9 Fizz3 NM_001204959 Q99P87 RETN_MOUSE uc009ksh.1 uc009ksh.2 uc009ksh.3 uc009ksh.4 Hormone that seems to suppress insulin ability to stimulate glucose uptake into adipose cells. Potentially links obesity to diabetes. Homodimer; disulfide-linked. Secreted Expressed in white but not brown adipose tissue in a variety of organs. Belongs to the resistin/FIZZ family. hormone activity extracellular region extracellular space nucleus signal transduction positive regulation of collagen metabolic process positive regulation of smooth muscle cell migration response to insulin fat cell differentiation positive regulation of smooth muscle cell proliferation positive regulation of synaptic transmission negative regulation of feeding behavior positive regulation of progesterone secretion uc009ksh.1 uc009ksh.2 uc009ksh.3 uc009ksh.4 
ENSMUST00000012873.16 Zfp729b ENSMUST00000012873.16 zinc finger protein 729b, transcript variant 1 (from RefSeq NM_001163246.3) AA987161 ENSMUST00000012873.1 ENSMUST00000012873.10 ENSMUST00000012873.11 ENSMUST00000012873.12 ENSMUST00000012873.13 ENSMUST00000012873.14 ENSMUST00000012873.15 ENSMUST00000012873.2 ENSMUST00000012873.3 ENSMUST00000012873.4 ENSMUST00000012873.5 ENSMUST00000012873.6 ENSMUST00000012873.7 ENSMUST00000012873.8 ENSMUST00000012873.9 NM_001163246 Q80VN4 Q80VN4_MOUSE Zfp729b uc007rbf.1 uc007rbf.2 uc007rbf.3 nucleic acid binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated biological_process sequence-specific DNA binding metal ion binding uc007rbf.1 uc007rbf.2 uc007rbf.3 
ENSMUST00000013220.8 Amotl1 ENSMUST00000013220.8 angiomotin-like 1 (from RefSeq NM_001081395.1) AMOL1_MOUSE B9EKN5 ENSMUST00000013220.1 ENSMUST00000013220.2 ENSMUST00000013220.3 ENSMUST00000013220.4 ENSMUST00000013220.5 ENSMUST00000013220.6 ENSMUST00000013220.7 NM_001081395 Q571F1 Q9D4H4 uc009oep.1 uc009oep.2 uc009oep.3 uc009oep.4 Inhibits the Wnt/beta-catenin signaling pathway, probably by recruiting CTNNB1 to recycling endosomes and hence preventing its translocation to the nucleus. Cell junction, tight junction Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9D4H4-1; Sequence=Displayed; Name=2; IsoId=Q9D4H4-2; Sequence=VSP_044080; Expressed in exocrine glands, including pancreas, submandibular gland, lacrimal gland, parotid gland and sublingual gland (at protein level). Polyubiquitinated by NEDD4, leading to proteasomal degradation. Belongs to the angiomotin family. angiogenesis establishment of cell polarity involved in ameboidal cell migration protein binding bicellular tight junction COP9 signalosome Wnt signaling pathway apical plasma membrane lamellipodium actin cytoskeleton organization cell junction regulation of cell migration cytoplasmic vesicle hippo signaling identical protein binding positive regulation of blood vessel endothelial cell migration uc009oep.1 uc009oep.2 uc009oep.3 uc009oep.4 
ENSMUST00000013235.6 Tmem190 ENSMUST00000013235.6 transmembrane protein 190 (from RefSeq NM_030028.1) ENSMUST00000013235.1 ENSMUST00000013235.2 ENSMUST00000013235.3 ENSMUST00000013235.4 ENSMUST00000013235.5 NM_030028 Q9D2E9 TM190_MOUSE uc009eyp.1 uc009eyp.2 uc009eyp.3 uc009eyp.4 uc009eyp.5 Membrane ; Single- pass type I membrane protein Note=Localizes in the intracellular space in testicular germ cells and sperm. Detected also on the cell surface in post-meiotic round spermatids. In cauda epididymal sperm relocates during the acrosome reaction from the inner-acrosomal membrane onto the equatorial segment surface, on which sperm-oocyte fusion occurs. Colocalizes with IZUMO1 at the inner-acrosomal membrane. Detected in testis and in a mixture of spermatogenic cells at various stages (testicular germ cells). Not detected in heart, brain, spleen, lung, liver, skeletal muscle and kidney. Mice are normal with no alterations in fertility, body size and behavior. inner acrosomal membrane hematopoietic progenitor cell differentiation membrane integral component of membrane protein self-association uc009eyp.1 uc009eyp.2 uc009eyp.3 uc009eyp.4 uc009eyp.5 
ENSMUST00000013262.15 Zkscan17 ENSMUST00000013262.15 zinc finger with KRAB and SCAN domains 17, transcript variant 1 (from RefSeq NM_172941.4) ENSMUST00000013262.1 ENSMUST00000013262.10 ENSMUST00000013262.11 ENSMUST00000013262.12 ENSMUST00000013262.13 ENSMUST00000013262.14 ENSMUST00000013262.2 ENSMUST00000013262.3 ENSMUST00000013262.4 ENSMUST00000013262.5 ENSMUST00000013262.6 ENSMUST00000013262.7 ENSMUST00000013262.8 ENSMUST00000013262.9 NM_172941 Nizp11 Q3TC40 Q3UTL1 Q5SXI5 Q8BKK0 Q8CGF9 ZN496_MOUSE Zfp496 Znf496 uc007jeb.1 uc007jeb.2 uc007jeb.3 uc007jeb.4 uc007jeb.5 DNA-binding transcription factor that can both act as an activator and a repressor. Interacts (via zinc-fingers) with JARID2. Interacts with NSD1. Q5SXI5; Q62315: Jarid2; NbExp=6; IntAct=EBI-7417351, EBI-493592; Nucleus Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5SXI5-1; Sequence=Displayed; Name=2; IsoId=Q5SXI5-2; Sequence=VSP_038769; Name=3; IsoId=Q5SXI5-3; Sequence=VSP_038768; The C2H2-type zinc finger 1, also named C2HR, mediates the interaction with NSD1. Belongs to the krueppel C2H2-type zinc-finger protein family. negative regulation of transcription from RNA polymerase II promoter nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated nuclear body protein self-association positive regulation of transcription, DNA-templated metal ion binding uc007jeb.1 uc007jeb.2 uc007jeb.3 uc007jeb.4 uc007jeb.5 
ENSMUST00000013294.16 Gfod2 ENSMUST00000013294.16 glucose-fructose oxidoreductase domain containing 2, transcript variant 2 (from RefSeq NM_027469.5) ENSMUST00000013294.1 ENSMUST00000013294.10 ENSMUST00000013294.11 ENSMUST00000013294.12 ENSMUST00000013294.13 ENSMUST00000013294.14 ENSMUST00000013294.15 ENSMUST00000013294.2 ENSMUST00000013294.3 ENSMUST00000013294.4 ENSMUST00000013294.5 ENSMUST00000013294.6 ENSMUST00000013294.7 ENSMUST00000013294.8 ENSMUST00000013294.9 GFOD2_MOUSE NM_027469 Q9CYH5 uc009neb.1 uc009neb.2 uc009neb.3 Promotes matrix assembly. Secreted, extracellular space, extracellular matrix Belongs to the Gfo/Idh/MocA family. extracellular region oxidoreductase activity extracellular matrix organization extracellular matrix oxidation-reduction process uc009neb.1 uc009neb.2 uc009neb.3 
ENSMUST00000013299.11 Enkd1 ENSMUST00000013299.11 enkurin domain containing 1 (from RefSeq NM_198299.2) ENKD1_MOUSE ENSMUST00000013299.1 ENSMUST00000013299.10 ENSMUST00000013299.2 ENSMUST00000013299.3 ENSMUST00000013299.4 ENSMUST00000013299.5 ENSMUST00000013299.6 ENSMUST00000013299.7 ENSMUST00000013299.8 ENSMUST00000013299.9 NM_198299 Q7TSV9 uc292cwk.1 uc292cwk.2 Microtubule-binding protein which regulates microtubule organization and stability (By similarity). Promotes the stability of astral microtubules and facilitates the proper orientation of the mitotic spindle (By similarity). This allows the oriented division of basal keratinocytes and contributes to epidermal stratification (PubMed:35197565). Required for the assembly of both primary and motile cilia (PubMed:35301795, PubMed:35072334). Destabilizes the interaction between CCP110 and CEP97 by competing with CEP97 for binding to CCP110 which promotes the removal of CCP110 and CEP97 from the mother centriole and allows the initiation of ciliogenesis (PubMed:35301795). Interacts with alpha-tubulin (By similarity). Interacts (via central region) with CCP110 (via N-terminal region); competes with CEP97 for binding to CCP110 (PubMed:35301795). Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole Cytoplasm, cytoskeleton, cilium basal body Cell projection, cilium Cytoplasm, cytoskeleton, spindle Cytoplasm, cytoskeleton, spindle pole Cytoplasm, cytoskeleton, cilium axoneme Note=Localized at the centrosome and accumulates at the parental centrioles during centriole duplication in cycling cells (By similarity). In ciliated cells, detected at the basal body of the cilium (By similarity). Localizes to the centrosome during interphase, to the primary cilium at G0, to the spindle poles during mitosis and to the centrosomes and central spindle during telophase and cytokinesis (By similarity). Widely expressed with highest levels in testis and lung. Severely impaired epidermal barrier function with a significant reduction in the thickness of the granular and spinous layers of the epidermis (PubMed:35197565). Misoriented division of basal keratinocytes and significantly reduced proliferation rate of basal keratinocytes and suprabasal cells (PubMed:35197565). Ciliogenesis defects in multiple organs (PubMed:35301795). Retinal photoreceptor cilia numbers are greatly decreased, leading to defective vision, and there is also a decreased number of renal primary cilia as well as a reduced percentage of ciliated cells in the tracheal epithelium (PubMed:35301795). Impaired cardiac function (PubMed:35301795). Males are fertile but a significant proportion of spermatozoa are aberrant with no tails (PubMed:35301795). molecular_function cytoplasmic microtubule biological_process microtubule cytoskeleton uc292cwk.1 uc292cwk.2 
ENSMUST00000013304.8 Atp6v0d1 ENSMUST00000013304.8 ATPase, H+ transporting, lysosomal V0 subunit D1 (from RefSeq NM_013477.4) Atp6d Atp6v0d1 ENSMUST00000013304.1 ENSMUST00000013304.2 ENSMUST00000013304.3 ENSMUST00000013304.4 ENSMUST00000013304.5 ENSMUST00000013304.6 ENSMUST00000013304.7 NM_013477 P51863 Q54A57 Q9QWJ2 VA0D1_MOUSE uc009ndg.1 uc009ndg.2 uc009ndg.3 Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:12963731). V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). May play a role in coupling of proton transport and ATP hydrolysis (PubMed:12963731). In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (By similarity). May play a role in cilium biogenesis through regulation of the transport and the localization of proteins to the cilium (By similarity). V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex (By similarity). The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H (By similarity). The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c'', rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR (By similarity). Interacts with ATP6AP2; ATP6AP2 is a V-ATPase accessory protein and the interaction promotes v-ATPase complex assembly (By similarity). Interacts with TMEM9; TMEM9 is a v-ATPase assembly regulator and the interaction induces the interaction with ATP6AP2 (By similarity). Interacts with PIP4P1 (PubMed:29644770). Membrane ; Peripheral membrane protein ; Cytoplasmic side Lysosome membrane ; Peripheral membrane protein Cytoplasmic vesicle, clathrin-coated vesicle membrane ; Peripheral membrane protein Note=Localizes to centrosome and the base of the cilium. Ubiquitous. Expressed throughout early development. Belongs to the V-ATPase V0D/AC39 subunit family. protein binding lysosomal membrane early endosome centrosome ion transport cellular iron ion homeostasis vacuolar transport vacuolar acidification brain development synaptic vesicle hydrogen-exporting ATPase activity, phosphorylative mechanism hydrogen ion transmembrane transporter activity membrane apical plasma membrane vacuolar proton-transporting V-type ATPase complex cell projection organization macromolecular complex proton-transporting V-type ATPase, V0 domain plasma membrane proton-transporting V-type ATPase complex cellular response to increased oxygen levels neuron projection axon terminus macromolecular complex binding proton-transporting ATPase activity, rotational mechanism cilium assembly hydrogen ion transmembrane transport uc009ndg.1 uc009ndg.2 uc009ndg.3 
ENSMUST00000013338.14 Arih2 ENSMUST00000013338.14 ariadne RBR E3 ubiquitin protein ligase 2, transcript variant 5 (from RefSeq NR_151664.2) ARI2_MOUSE Ari2 ENSMUST00000013338.1 ENSMUST00000013338.10 ENSMUST00000013338.11 ENSMUST00000013338.12 ENSMUST00000013338.13 ENSMUST00000013338.2 ENSMUST00000013338.3 ENSMUST00000013338.4 ENSMUST00000013338.5 ENSMUST00000013338.6 ENSMUST00000013338.7 ENSMUST00000013338.8 ENSMUST00000013338.9 NR_151664 Q9Z1K6 Triad1 Uip48 uc009rqo.1 uc009rqo.2 uc009rqo.3 E3 ubiquitin-protein ligase, which catalyzes ubiquitination of target proteins together with ubiquitin-conjugating enzyme E2 UBE2L3 (By similarity). Acts as an atypical E3 ubiquitin-protein ligase by working together with cullin-5-RING ubiquitin ligase complex (ECS complex, also named CRL5 complex) and initiating ubiquitination of ECS substrates: associates with ECS complex and specifically mediates addition of the first ubiquitin on ECS targets (By similarity). The initial ubiquitin is then elongated (By similarity). E3 ubiquitin- protein ligase activity is activated upon binding to neddylated form of the ECS complex. Mediates 'Lys-6', 'Lys-48'- and 'Lys-63'-linked polyubiquitination. May play a role in myelopoiesis (By similarity). Reaction=[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + [acceptor protein]-N(6)-ubiquitinyl-L-lysine.; EC=2.3.2.31; Evidence=; Autoinhibited by the ariadne domain, which masks the second RING-type zinc finger that contains the active site and inhibits the E3 activity (By similarity). Inhibition is relieved upon binding to neddylated cullin-RING ubiquitin ligase complexes, which activate the E3 ligase activity of ARIH1 (By similarity). Protein modification; protein ubiquitination. Interacts (via RING-type zinc finger 1) with UBE2L3. Interacts (via RING-type zinc finger 2) with UBE2N. Interacts with neddylated CUL5. Interacts (via RING-type 2) with GFI1B. Interacts with GFI1; prevents its ubiquitination and proteasomal degradation. Interacts with DCUN1D1 (via UBA-like domain); promotes DCUN1D1 ubiquitination (By similarity). Q9Z1K6; Q60778: Nfkbib; NbExp=2; IntAct=EBI-6861719, EBI-644469; Nucleus Cytoplasm Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT- type E3 enzymes: they bind E2s via the first RING-type zinc finger, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved active site Cys residue in the second RING-type zinc finger. The active site probably forms a thioester intermediate with ubiquitin taken from the active-site cysteine of the E2 before ultimately transferring it to a Lys residue on the substrate. The Ariadne domain inhibits activity by masking the second RING-type zinc finger that contains the active site. Ubiquitinated. Ubiquitination promotes proteasomal degradation. Belongs to the RBR family. Ariadne subfamily. ubiquitin ligase complex protein polyubiquitination ubiquitin-protein transferase activity protein binding nucleus nucleoplasm cytoplasm ubiquitin-dependent protein catabolic process protein ubiquitination transferase activity Cul5-RING ubiquitin ligase complex ubiquitin conjugating enzyme binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process metal ion binding developmental cell growth ubiquitin protein ligase activity protein K63-linked ubiquitination protein K48-linked ubiquitination hematopoietic stem cell proliferation uc009rqo.1 uc009rqo.2 uc009rqo.3 
ENSMUST00000013458.9 Adh4 ENSMUST00000013458.9 alcohol dehydrogenase 4 (class II), pi polypeptide (from RefSeq NM_011996.2) ADH4_MOUSE Adh2 Adh4 ENSMUST00000013458.1 ENSMUST00000013458.2 ENSMUST00000013458.3 ENSMUST00000013458.4 ENSMUST00000013458.5 ENSMUST00000013458.6 ENSMUST00000013458.7 ENSMUST00000013458.8 NM_011996 Q3V0P5 Q9QYY9 uc008rnj.1 uc008rnj.2 uc008rnj.3 Catalyzes the NAD-dependent oxidation of either all-trans- retinol or 9-cis-retinol (PubMed:17279314). Also oxidizes long chain omega-hydroxy fatty acids, such as 20-HETE, producing both the intermediate aldehyde, 20-oxoarachidonate and the end product, a dicarboxylic acid, (5Z,8Z,11Z,14Z)-eicosatetraenedioate (PubMed:16081420). Also catalyzes the reduction of benzoquinones (By similarity). Reaction=all-trans-retinol + NAD(+) = all-trans-retinal + H(+) + NADH; Xref=Rhea:RHEA:21284, ChEBI:CHEBI:15378, ChEBI:CHEBI:17336, ChEBI:CHEBI:17898, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.105; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:21285; Evidence=; Reaction=9-cis-retinol + NAD(+) = 9-cis-retinal + H(+) + NADH; Xref=Rhea:RHEA:42052, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78272, ChEBI:CHEBI:78273; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42053; Evidence=; Reaction=20-hydroxy-(5Z,8Z,11Z,14Z)-eicosatetraenoate + NAD(+) = 20- oxo-(5Z,8Z,11Z,14Z)-eicosatetraenoate + H(+) + NADH; Xref=Rhea:RHEA:39799, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:76624, ChEBI:CHEBI:76645; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39800; Evidence=; Reaction=20-oxo-(5Z,8Z,11Z,14Z)-eicosatetraenoate + H2O + NAD(+) = (5Z,8Z,11Z,14Z)-eicosatetraenedioate + 2 H(+) + NADH; Xref=Rhea:RHEA:39803, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:76645, ChEBI:CHEBI:76647; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39804; Evidence=; Reaction=1,4-benzoquinone + H(+) + NADH = hydroquinone + NAD(+); Xref=Rhea:RHEA:60660, ChEBI:CHEBI:15378, ChEBI:CHEBI:16509, ChEBI:CHEBI:17594, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60661; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 2 Zn(2+) ions per subunit.; Oxidation of 20-HETE is inhibited by low concentrations of N-heptylformamide (PubMed:16081420). Oxidation of 20- HETE is a decreased by 55-65% by either all-trans-retinol or all-trans- retinoic acid (PubMed:16081420). Strongly inhibited by omega-hydroxy fatty acids (PubMed:10514444). Kinetic parameters: KM=35 uM for 20-HETE ; KM=0.24 mM for 1,4-benzoquinone ; Dimer. Cytoplasm Liver specific. Belongs to the zinc-containing alcohol dehydrogenase family. Class-II subfamily. Has a much lower NAD-retinol dehydrogenase activity compared to the human ortholog. retinoid metabolic process NADPH:quinone reductase activity alcohol dehydrogenase (NAD) activity alcohol dehydrogenase activity, zinc-dependent alditol:NADP+ 1-oxidoreductase activity retinol dehydrogenase activity all-trans retinal binding nucleus cytoplasm cytosol alcohol metabolic process ethanol metabolic process ethanol oxidation cellular aldehyde metabolic process zinc ion binding fatty acid omega-oxidation oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor benzaldehyde dehydrogenase activity retinol binding ethanol binding retinol metabolic process alcohol catabolic process formaldehyde catabolic process metal ion binding NAD binding S-(hydroxymethyl)glutathione dehydrogenase activity oxidation-reduction process quinone metabolic process uc008rnj.1 uc008rnj.2 uc008rnj.3 
ENSMUST00000013497.8 Siglecl2 ENSMUST00000013497.8 RIKEN cDNA 4931406B18 gene (from RefSeq NM_028737.3) 4931406B18Rik A2RSL7 A2RSL7_MOUSE ENSMUST00000013497.1 ENSMUST00000013497.2 ENSMUST00000013497.3 ENSMUST00000013497.4 ENSMUST00000013497.5 ENSMUST00000013497.6 ENSMUST00000013497.7 NM_028737 uc009gmw.1 uc009gmw.2 molecular_function cellular_component biological_process membrane integral component of membrane uc009gmw.1 uc009gmw.2 
ENSMUST00000013559.3 Igf2bp1 ENSMUST00000013559.3 insulin-like growth factor 2 mRNA binding protein 1, transcript variant 1 (from RefSeq NM_009951.4) ENSMUST00000013559.1 ENSMUST00000013559.2 IF2B1_MOUSE NM_009951 O88477 Q80US9 Q8BRH1 Vickz1 uc007lay.1 uc007lay.2 uc007lay.3 uc007lay.4 uc007lay.5 RNA-binding factor that recruits target transcripts to cytoplasmic protein-RNA complexes (mRNPs). This transcript 'caging' into mRNPs allows mRNA transport and transient storage. It also modulates the rate and location at which target transcripts encounter the translational apparatus and shields them from endonuclease attacks or microRNA-mediated degradation. Preferentially binds to N6- methyladenosine (m6A)-containing mRNAs and increases their stability (By similarity). Regulates localized beta-actin/ACTB mRNA translation, a crucial process for cell polarity, cell migration and neurite outgrowth. Co-transcriptionally associates with the ACTB mRNA in the nucleus. This binding involves a conserved 54-nucleotide element in the ACTB mRNA 3'-UTR, known as the 'zipcode'. The RNP thus formed is exported to the cytoplasm, binds to a motor protein and is transported along the cytoskeleton to the cell periphery. During transport, prevents ACTB mRNA from being translated into protein. When the RNP complex reaches its destination near the plasma membrane, IGF2BP1 is phosphorylated. This releases the mRNA, allowing ribosomal 40S and 60S subunits to assemble and initiate ACTB protein synthesis. Monomeric ACTB then assembles into the subcortical actin cytoskeleton (By similarity). During neuronal development, key regulator of neurite outgrowth, growth cone guidance and neuronal cell migration, presumably through the spatiotemporal fine tuning of protein synthesis, such as that of ACTB (By similarity). May regulate mRNA transport to activated synapses (By similarity). Binds to the 3'-UTR of CD44 mRNA and stabilizes it, hence promotes cell adhesion and invadopodia formation in cancer cells (By similarity). Binds to the oncofetal H19 transcript and regulates its localization (By similarity). Binds to and stabilizes BTRC/FBW1A mRNA (By similarity). Binds to the adenine-rich autoregulatory sequence (ARS) located in PABPC1 mRNA and represses its translation. PABPC1 mRNA-binding is stimulated by PABPC1 protein. Prevents BTRC/FBW1A mRNA degradation by disrupting microRNA-dependent interaction with AGO2 (By similarity). During cellular stress, such as oxidative stress or heat shock, stabilizes target mRNAs that are recruited to stress granules, including CD44, IGF2, MAPK4, MYC, PTEN, RAPGEF2 and RPS6KA5 transcripts (By similarity). Interacts with GAP43 transcript and transports it to axons. Binds to the 3'-UTR of IGF2 mRNA by a mechanism of cooperative and sequential dimerization and regulates IGF2 mRNA subcellular localization and translation. Binds to MYC mRNA, in the coding region instability determinant (CRD) of the open reading frame (ORF), hence prevents MYC cleavage by endonucleases and possibly microRNA targeting to MYC-CRD. Binding to MYC mRNA is enhanced by m6A- modification of the CRD (By similarity). Binds to and stabilizes ABCB1/MDR-1 mRNA. Binds to the neuron-specific TAU mRNA and regulates its localization. Plays a direct role in the transport and translation of transcripts required for axonal regeneration in adult sensory neurons. During interstinal wound repair, interacts with and stabilizes PTGS2 transcript. PTGS2 mRNA stabilization may be crucial for colonic mucosal wound healing. Can form homodimers and heterodimers with IGF2BP1 and IGF2BP3 (By similarity). Component of the coding region determinant (CRD)- mediated complex, composed of DHX9, HNRNPU, IGF2BP1, SYNCRIP and YBX1 (By similarity). Identified in a mRNP complex, at least composed of DHX9, DDX3X, ELAVL1, HNRNPU, IGF2BP1, ILF3, PABPC1, PCBP2, PTBP2, STAU1, STAU2, SYNCRIP and YBX1 (By similarity). Associates with mRNP complex (By similarity). Interacts with FMR1 (By similarity). Component of a multisubunit autoregulatory RNP complex (ARC), at least composed of IGF2BP1, PABPC1 and CSDE1. Interacts with AGO1 and AGO2 (By similarity). Interacts, through domains KH3 and KH4, with PABPC1 in an RNA-independent manner (By similarity). Component of a TAU mRNP complex, at least composed of IGF2BP1, ELAVL4 and G3BP. Interacts with ELAVL4 in an RNA-dependent manner. Associates with microtubules and polysomes. Interacts with ELAVL1 and MATR3 (By similarity). Nucleus. Cytoplasm. Cytoplasm, perinuclear region Cytoplasm, P-body Cytoplasm, Stress granule Cell projection, lamellipodium Cell projection, dendrite Cell projection, dendritic spine Cell projection, growth cone Cell projection, filopodium Cell projection, axon Note=In the nucleus, located in discrete foci, coinciding with the sites of ACTB transcription (By similarity). In the cytoplasm, localizes in cytoplasmic mRNP granules. Colocalizes with microtubules in growth cone filopodia and along neurites in neuronal cells (By similarity). Cytoplasmic colocalization with ACTB mRNA is partially lost at the cell periphery, suggesting release of the transcript (By similarity). In hippocampal neurons, predominantly located within dendrites, particularly at dendritic branching points in young cells, compared to axons (By similarity). In axons, predominantly found in axonal branches and their growth cones (By similarity). In neuronal processes, exhibits fast retrograde and anterograde movements, when associated with ACTB mRNA; this motility is lost when the association is inhibited (By similarity). Dendritic levels are regulated by neuronal activity and glutaminergic signals: they are increased by KCl-induced depolarization, which induces rapid efflux from the cell body into dendrites, and decreased by NMDA receptor agonists (By similarity). In motile cells, such as migrating fibroblasts, localizes to leading edges where it colocalizes with microtubules and microfilaments and to retracting tails (By similarity). In motile cells, transported towards the leading edge into the cortical region of the lamellipodia where it is connected to microfilaments (By similarity). In response to cellular stress, such as oxidative stress or heat shock, recruited to stress granules, but not to processing bodies (By similarity). Expressed in zygotes and blastocysts (at protein level). Expressed in brain, skeletal muscle, trophoblasts of placenta, oocytes and spermatogonia (at protein level). Expressed in testis and ovary. Following colon injury, expressed in the wound bed mesenchyme during the first phase of repair, probably by colonic mesenchymal stem cells (at protein level). Expressed during embryonic development and expression declines towards birth (at protein level). At 10.5 dpc, mainly expressed in the fore- and hindbrain, the snout, the branchial arches, the developing limb buds, and the tail. At 12.5 dpc, expression increased in the expanding fore- and hindbrain, as well as in the neural tract. Marked expression also observed in the snout, the interdigital mesenchyme of the limb buds, the tail, the branchial arches and somites, and the developing eye, tongue, heart and liver. Expressed in myoblasts and myotubes at 12.5 dpc (at protein level). From 12.5 to 15.5 dpc, expressed at the basal plasma cell membrane in the basal layer of the epidermis of the skin, lung and intestine (at protein level). Expressed in gonads at 12.5 and 14.5 dpc (at protein level). At 14.5 dpc in limb buds, becomes restricted to the future tendons. Expressed in germ cells at 16.5 dpc (at protein level). At 17.5 dpc, expression generally decreases, but remains high in the intestine, in the developing tubules of the kidney, and in the liver. Expressed until P12, although very low levels may remain in some tissues, such as intestines, kidney and brain, throughout adulthood. Following colonic injury, up-regulated in the wound mucosa at days 2 and 4 post-injury and down-regulated at day 6 post-injury, as compared with uninjured mucosa. Domains KH3 and KH4 are the major RNA-binding modules, although KH1 and KH2 may also contribute. KH1 and KH2, and possibly KH3 and KH4, promote the formation of higher ordered protein-RNA complexes, which may be essential for IGF2BP1 cytoplasmic retention. KH domains are required for RNA-dependent homo- and heterooligomerization and for localization to stress granules. KH3 and KH4 mediate association with the cytoskeleton. Two nuclear export signals (NES) have been identified in KH2 and KH4 domains, respectively. Only KH2 NES is XPO1-dependent. Both NES may be redundant, since individual in vitro mutations do not affect subcellular location of the full-length protein. Phosphorylated. Phosphorylation may impair association with ACTB mRNA and hence abolishes translational repression (By similarity). Mutant mice exhibit high perinatal mortality and only 50% are alive 3 days after birth. Early death may be due to intestinal dysfunction. Animals are on average 40% smaller than wild- type and heterozygous sex-matched littermates. Growth retardation, probably due to hypoplasia, appears from 17.5 dpc and remains permanent into adult life. Mutant animals exhibit other stricking features, including impaired development of the intestine, with small and misshapen villi and twisted colon crypts, abnormal kidney architecture and loss of cartilage in the lower extremities. Some animals show signs of neurological damage, including aggressive behavior, restlessness and circular movements. Belongs to the RRM IMP/VICKZ family. nucleic acid binding RNA binding mRNA binding mRNA 3'-UTR binding nucleus nucleoplasm cytoplasm cytosol RNA localization regulation of translation cytoplasmic stress granule regulation of mRNA stability involved in response to stress negative regulation of translation pallium cell proliferation in forebrain lamellipodium filopodium axon dendrite growth cone cell projection dendritic spine translation regulator activity mRNA 5'-UTR binding perinuclear region of cytoplasm mRNA transport CRD-mediated mRNA stabilization CRD-mediated mRNA stability complex neuronal stem cell population maintenance ribonucleoprotein complex uc007lay.1 uc007lay.2 uc007lay.3 uc007lay.4 uc007lay.5 
ENSMUST00000013633.12 Fgfrl1 ENSMUST00000013633.12 fibroblast growth factor receptor-like 1, transcript variant 1 (from RefSeq NM_054071.3) ENSMUST00000013633.1 ENSMUST00000013633.10 ENSMUST00000013633.11 ENSMUST00000013633.2 ENSMUST00000013633.3 ENSMUST00000013633.4 ENSMUST00000013633.5 ENSMUST00000013633.6 ENSMUST00000013633.7 ENSMUST00000013633.8 ENSMUST00000013633.9 FGRL1_MOUSE Fgfr5 NM_054071 Q91V87 Q920C2 Q920C3 uc008ypa.1 uc008ypa.2 uc008ypa.3 uc008ypa.4 Has a negative effect on cell proliferation. Interacts with FGF2 with a low affinity. Cell membrane ; Single-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=FGFR5beta, FGFR5b; IsoId=Q91V87-1; Sequence=Displayed; Name=2; Synonyms=FGFR5gamma, FGFR5g; IsoId=Q91V87-2; Sequence=VSP_013976; Highly expressed in the kidney, brain and lung. Weakly expressed in the muscle, thymus, lymph node, stomach, intestine, colon and liver. Expressed in fetal cartilaginous structures like the nasal cartilage, the ribs and the sternum as well as in the cartilaginous rudiments of developing bones such as the vertebrae and the pelvic bone. High expression is found in the muscles of the tongue and the diaphragm. First detected at embryonic day 7 and became clearly visible at day 11 and increased until day 17. skeletal system development non-tyrosine kinase fibroblast growth factor receptor activity heart valve morphogenesis fibroblast growth factor-activated receptor activity Golgi apparatus plasma membrane integral component of plasma membrane cell surface receptor signaling pathway heparin binding negative regulation of cell proliferation fibroblast growth factor receptor signaling pathway membrane integral component of membrane fibroblast growth factor binding transport vesicle negative regulation of fibroblast growth factor receptor signaling pathway cell-cell contact zone protein homooligomerization ventricular septum morphogenesis diaphragm development cell-cell adhesion via plasma-membrane adhesion molecules uc008ypa.1 uc008ypa.2 uc008ypa.3 uc008ypa.4 
ENSMUST00000013667.3 Bcas1 ENSMUST00000013667.3 brain enriched myelin associated protein 1, transcript variant 1 (from RefSeq NM_029815.2) A2AVX2 BCAS1_MOUSE ENSMUST00000013667.1 ENSMUST00000013667.2 NM_029815 Nabc1 Q80YN3 Q9CVA1 uc008oby.1 uc008oby.2 uc008oby.3 uc008oby.4 Required for myelination. Homodimer. Interacts with DYNLL1 and DYNLL2. Cytoplasm Highly expressed in the brain and, more specifically, in oligodendrocytes. Expressed in the Schwann cells (at protein level). Mice display hypomyelination, schizophrenia-like behavioral abnormalities and a tendency toward reduced anxiety-like behaviors and up-regulation of inflammatory genes in the brain. cytoplasm cytosol postsynaptic density myelination protein homodimerization activity uc008oby.1 uc008oby.2 uc008oby.3 uc008oby.4 
ENSMUST00000013693.11 Commd8 ENSMUST00000013693.11 COMM domain containing 8, transcript variant 1 (from RefSeq NM_178599.5) COMD8_MOUSE ENSMUST00000013693.1 ENSMUST00000013693.10 ENSMUST00000013693.2 ENSMUST00000013693.3 ENSMUST00000013693.4 ENSMUST00000013693.5 ENSMUST00000013693.6 ENSMUST00000013693.7 ENSMUST00000013693.8 ENSMUST00000013693.9 NM_178599 Q9CZG3 Q9D7F6 uc008xre.1 uc008xre.2 uc008xre.3 May modulate activity of cullin-RING E3 ubiquitin ligase (CRL) complexes. May down-regulate activation of NF-kappa-B. Interacts (via COMM domain) with COMMD1 (via COMM domain). Interacts with RELA, RELB, NFKB1/p105. Interacts with CCDC22, CCDC93, SCNN1B, CUL1, CUL2, CUL3, CUL4A, CUL4B, CUL5. Cytoplasm Nucleus molecular_function nucleus nucleoplasm cytoplasm cytosol biological_process uc008xre.1 uc008xre.2 uc008xre.3 
ENSMUST00000013737.13 Ndufs2 ENSMUST00000013737.13 NADH:ubiquinone oxidoreductase core subunit S2, transcript variant 1 (from RefSeq NM_153064.6) ENSMUST00000013737.1 ENSMUST00000013737.10 ENSMUST00000013737.11 ENSMUST00000013737.12 ENSMUST00000013737.2 ENSMUST00000013737.3 ENSMUST00000013737.4 ENSMUST00000013737.5 ENSMUST00000013737.6 ENSMUST00000013737.7 ENSMUST00000013737.8 ENSMUST00000013737.9 NDUS2_MOUSE NM_153064 Q3TNA8 Q3U5Y9 Q3UJX7 Q91WD5 Q99L23 uc007dnm.1 uc007dnm.2 uc007dnm.3 Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:26437605, PubMed:29887397, PubMed:31297047). Essential for the catalytic activity and assembly of complex I (PubMed:26437605, PubMed:29887397, PubMed:31297047). Redox-sensitive, critical component of the oxygen-sensing pathway in the pulmonary vasculature which plays a key role in acute pulmonary oxygen-sensing and hypoxic pulmonary vasoconstriction (PubMed:30922174). Plays an important role in carotid body sensing of hypoxia (PubMed:26437605, PubMed:29887397). Essential for glia-like neural stem and progenitor cell proliferation, differentiation and subsequent oligodendrocyte or neuronal maturation (PubMed:31297047). Reaction=a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+); Xref=Rhea:RHEA:29091, Rhea:RHEA-COMP:9565, Rhea:RHEA- COMP:9566, ChEBI:CHEBI:15378, ChEBI:CHEBI:16389, ChEBI:CHEBI:17976, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=7.1.1.2; Evidence= Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster.; Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits. Component of the iron- sulfur (IP) fragment of the enzyme. Interacts with NDUFAF3. Interacts with NDUFAF7 (By similarity). Interacts with CERS2 (PubMed:32279995). Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side Dimethylation at Arg-118 by NDUFAF7 takes place after NDUFS2 assembles into the complex I, leading to stabilize the early intermediate complex. Knockout mice show early perinatal death and major defects in the CNS, compromising especially the postnatal development of dorsal cortex, corpus callosum, hippocampus and cerebellum (PubMed:31297047). Neonatal neurogenesis and gliogenesis are deeply impaired (PubMed:31297047). Belongs to the complex I 49 kDa subunit family. Sequence=AAH03898.1; Type=Erroneous initiation; Evidence=; NADH dehydrogenase activity nucleoplasm mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I response to oxidative stress NADH dehydrogenase (ubiquinone) activity membrane oxidoreductase activity oxidoreductase activity, acting on NAD(P)H ubiquitin protein ligase binding mitochondrial ATP synthesis coupled electron transport metal ion binding quinone binding NAD binding iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding oxidation-reduction process respiratory chain uc007dnm.1 uc007dnm.2 uc007dnm.3 
ENSMUST00000013755.12 Snx31 ENSMUST00000013755.12 sorting nexin 31, transcript variant 1 (from RefSeq NM_025712.5) ENSMUST00000013755.1 ENSMUST00000013755.10 ENSMUST00000013755.11 ENSMUST00000013755.2 ENSMUST00000013755.3 ENSMUST00000013755.4 ENSMUST00000013755.5 ENSMUST00000013755.6 ENSMUST00000013755.7 ENSMUST00000013755.8 ENSMUST00000013755.9 NM_025712 Q6P8Y7 Q8BH14 Q9D690 SNX31_MOUSE uc007vmv.1 uc007vmv.2 uc007vmv.3 May be involved in protein trafficking. Interacts with CCDC22, CCDC93, VPS26C and VPS35L, associates with the retriever and CCC complexes. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6P8Y7-1; Sequence=Displayed; Name=2; IsoId=Q6P8Y7-2; Sequence=VSP_033263; Belongs to the sorting nexin family. protein binding early endosome intracellular protein transport protein transport macromolecular complex phosphatidylinositol binding retrograde transport, endosome to plasma membrane uc007vmv.1 uc007vmv.2 uc007vmv.3 
ENSMUST00000013759.6 Fnbp4 ENSMUST00000013759.6 Fnbp4 (from geneSymbol) A0A0R4IZZ6 A0A0R4IZZ6_MOUSE ENSMUST00000013759.1 ENSMUST00000013759.2 ENSMUST00000013759.3 ENSMUST00000013759.4 ENSMUST00000013759.5 Fnbp4 U40750 uc008ktb.1 uc008ktb.2 uc008ktb.3 nuclear speck uc008ktb.1 uc008ktb.2 uc008ktb.3 
ENSMUST00000013771.15 Trim54 ENSMUST00000013771.15 tripartite motif-containing 54 (from RefSeq NM_021447.2) ENSMUST00000013771.1 ENSMUST00000013771.10 ENSMUST00000013771.11 ENSMUST00000013771.12 ENSMUST00000013771.13 ENSMUST00000013771.14 ENSMUST00000013771.2 ENSMUST00000013771.3 ENSMUST00000013771.4 ENSMUST00000013771.5 ENSMUST00000013771.6 ENSMUST00000013771.7 ENSMUST00000013771.8 ENSMUST00000013771.9 Murf NM_021447 Q9ERP3 Rnf30 TRI54_MOUSE uc008wxd.1 uc008wxd.2 uc008wxd.3 uc008wxd.4 May bind and stabilize microtubules during myotubes formation. Homooligomer and heterooligomer. Interacts with TRIM63 and probably with TRIM55 (By similarity). Interacts with tubulin. Q9ERP3; Q14192: FHL2; Xeno; NbExp=2; IntAct=EBI-15626796, EBI-701903; Q9ERP3; Q14315-1: FLNC; Xeno; NbExp=2; IntAct=EBI-15626796, EBI-15532913; Cytoplasm, cytoskeleton Cytoplasm, myofibril, sarcomere, Z line Note=Associates with microtubules. Localizes to the Z-lines in skeletal muscles. Selectively expressed in heart and skeletal muscle (at protein level). Also detected in lung and brain at much lower level. At 8.5 dpc expressed in the developing cardiac region. At 10.5 dpc expression is restricted to the cardiac region and myotome of the somites. Pre-natal expression is muscle-specific. protein binding cytoplasm cytoskeleton microtubule microtubule associated complex negative regulation of microtubule depolymerization multicellular organism development microtubule binding zinc ion binding Z disc cell differentiation metal ion binding uc008wxd.1 uc008wxd.2 uc008wxd.3 uc008wxd.4 
ENSMUST00000013773.12 Cad ENSMUST00000013773.12 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase, transcript variant 1 (from RefSeq NM_023525.3) B2RQC6 B7ZN27 ENSMUST00000013773.1 ENSMUST00000013773.10 ENSMUST00000013773.11 ENSMUST00000013773.2 ENSMUST00000013773.3 ENSMUST00000013773.4 ENSMUST00000013773.5 ENSMUST00000013773.6 ENSMUST00000013773.7 ENSMUST00000013773.8 ENSMUST00000013773.9 NM_023525 PYR1_MOUSE uc008wwz.1 uc008wwz.2 uc008wwz.3 Multifunctional protein that encodes the first 3 enzymatic activities of the de novo pyrimidine pathway: carbamoylphosphate synthetase (CPSase; EC 6.3.5.5), aspartate transcarbamylase (ATCase; EC 2.1.3.2) and dihydroorotase (DHOase; EC 3.5.2.3). The CPSase-function is accomplished in 2 steps, by a glutamine-dependent amidotransferase activity (GATase) that binds and cleaves glutamine to produce ammonia, followed by an ammonium-dependent carbamoyl phosphate synthetase, which reacts with the ammonia, hydrogencarbonate and ATP to form carbamoyl phosphate. The endogenously produced carbamoyl phosphate is sequestered and channeled to the ATCase active site. ATCase then catalyzes the formation of carbamoyl-L-aspartate from L-aspartate and carbamoyl phosphate. In the last step, DHOase catalyzes the cyclization of carbamoyl aspartate to dihydroorotate. Reaction=2 ATP + H2O + hydrogencarbonate + L-glutamine = 2 ADP + carbamoyl phosphate + 2 H(+) + L-glutamate + phosphate; Xref=Rhea:RHEA:18633, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17544, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58228, ChEBI:CHEBI:58359, ChEBI:CHEBI:456216; EC=6.3.5.5; Evidence=; Reaction=H2O + L-glutamine = L-glutamate + NH4(+); Xref=Rhea:RHEA:15889, ChEBI:CHEBI:15377, ChEBI:CHEBI:28938, ChEBI:CHEBI:29985, ChEBI:CHEBI:58359; EC=3.5.1.2; Evidence=; Reaction=2 ATP + hydrogencarbonate + NH4(+) = 2 ADP + carbamoyl phosphate + 2 H(+) + phosphate; Xref=Rhea:RHEA:18029, ChEBI:CHEBI:15378, ChEBI:CHEBI:17544, ChEBI:CHEBI:28938, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58228, ChEBI:CHEBI:456216; EC=6.3.4.16; Evidence=; Reaction=carbamoyl phosphate + L-aspartate = H(+) + N-carbamoyl-L- aspartate + phosphate; Xref=Rhea:RHEA:20013, ChEBI:CHEBI:15378, ChEBI:CHEBI:29991, ChEBI:CHEBI:32814, ChEBI:CHEBI:43474, ChEBI:CHEBI:58228; EC=2.1.3.2; Evidence=; Reaction=(S)-dihydroorotate + H2O = H(+) + N-carbamoyl-L-aspartate; Xref=Rhea:RHEA:24296, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30864, ChEBI:CHEBI:32814; EC=3.5.2.3; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 3 Zn(2+) ions per subunit (for dihydroorotase activity). ; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 4 magnesium or manganese ions per subunit. ; Allosterically regulated and controlled by phosphorylation. 5-phosphoribose 1-diphosphate (PRPP) is an activator while UMP and UTP are inhibitors of the CPSase reaction (By similarity). Pyrimidine metabolism; UMP biosynthesis via de novo pathway; (S)-dihydroorotate from bicarbonate: step 1/3. Pyrimidine metabolism; UMP biosynthesis via de novo pathway; (S)-dihydroorotate from bicarbonate: step 2/3. Pyrimidine metabolism; UMP biosynthesis via de novo pathway; (S)-dihydroorotate from bicarbonate: step 3/3. Homohexamer. Interacts with CIPC. Cytoplasm Nucleus Note=Cytosolic and unphosphorylated in resting cells, translocates to the nucleus in response to EGF stimulation, nuclear import promotes optimal cell growth. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=B2RQC6-1; Sequence=Displayed; Name=2; IsoId=B2RQC6-2; Sequence=VSP_053912; Activated by MAP kinase (Erk1/2) phosphorylation just prior to the S phase of the cell cycle, when the demand for pyrimidine nucleotides is greatest, and down-regulated as the cells emerge from S phase by protein kinase A (PKA) phosphorylation. Phosphorylation at Ser-1859 by RPS6KB1 downstream of MTOR promotes oligomerization and stimulates dihydroorotase activity. Phosphorylation at Ser-1406 reduces sensitivity to feedback inhibition by UTP (By similarity). GATase (glutamine amidotransferase) and CPSase (carbamoyl phosphate synthase) form together the glutamine-dependent CPSase (GD-CPSase) (EC 6.3.5.5). In the N-terminal section; belongs to the CarA family. In the 2nd section; belongs to the CarB family. In the 3rd section; belongs to the metallo-dependent hydrolases superfamily. DHOase family. CAD subfamily. In the C-terminal section; belongs to the aspartate/ornithine carbamoyltransferase superfamily. ATCase family. nucleotide binding liver development UTP binding catalytic activity aspartate carbamoyltransferase activity carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity dihydroorotase activity protein kinase activity ATP binding nucleus nucleoplasm cytoplasm cytosol 'de novo' pyrimidine nucleobase biosynthetic process pyrimidine nucleotide biosynthetic process UTP biosynthetic process cellular amino acid metabolic process glutamine metabolic process nitrogen compound metabolic process heart development female pregnancy lactation metabolic process zinc ion binding response to amine nuclear matrix amino acid binding transferase activity carboxyl- or carbamoyltransferase activity hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides ligase activity drug metabolic process peptidyl-threonine phosphorylation citrulline biosynthetic process enzyme binding response to caffeine animal organ regeneration response to insulin macromolecular complex response to testosterone cellular response to drug response to starvation identical protein binding cell projection neuronal cell body terminal bouton 'de novo' UMP biosynthetic process protein autophosphorylation metal ion binding response to cortisol cellular response to epidermal growth factor stimulus uc008wwz.1 uc008wwz.2 uc008wwz.3 
ENSMUST00000013797.3 1810065E05Rik ENSMUST00000013797.3 RIKEN cDNA 1810065E05 gene (from RefSeq NM_027239.2) 1810065E05Rik ENSMUST00000013797.1 ENSMUST00000013797.2 NM_027239 Q5NC41 Q5NC41_MOUSE uc007jbl.1 uc007jbl.2 uc007jbl.3 molecular_function cellular_component response to bacterium uc007jbl.1 uc007jbl.2 uc007jbl.3 
ENSMUST00000013807.8 Pten ENSMUST00000013807.8 phosphatase and tensin homolog (from RefSeq NM_008960.2) ENSMUST00000013807.1 ENSMUST00000013807.2 ENSMUST00000013807.3 ENSMUST00000013807.4 ENSMUST00000013807.5 ENSMUST00000013807.6 ENSMUST00000013807.7 Mmac1 NM_008960 O08586 PTEN_MOUSE Q3UFB0 Q542G1 uc008hfr.1 uc008hfr.2 uc008hfr.3 This gene encodes a phosphatase with dual activity against phospholipids and proteins, and acts as a tumor-suppressor. The protein contains four structural domains, a PIP2-binding domain, a catalytic tensin-type phosphatase domain, a C2 tensin-type domain and a PDZ-binding domain. The protein belongs to the protein tyrosine phosphatase family. Deletion of this gene in mice contribute to tumorigenesis in multiple tissues. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK076980.1, AK088717.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine- and threonine-phosphorylated proteins. Also functions as a lipid phosphatase, removing the phosphate in the D3 position of the inositol ring of PtdIns(3,4,5)P3/phosphatidylinositol 3,4,5-trisphosphate, PtdIns(3,4)P2/phosphatidylinositol 3,4-diphosphate and PtdIns3P/phosphatidylinositol 3-phosphate with a preference for PtdIns(3,4,5)P3. Furthermore, this enzyme can also act as a cytosolic inositol 3-phosphatase acting on Ins(1,3,4,5,6)P5/inositol 1,3,4,5,6 pentakisphosphate and possibly Ins(1,3,4,5)P4/1D-myo-inositol 1,3,4,5- tetrakisphosphate (By similarity). Antagonizes the PI3K-AKT/PKB signaling pathway by dephosphorylating phosphoinositides and thereby modulating cell cycle progression and cell survival (PubMed:10339565, PubMed:19778506, PubMed:31492966). The unphosphorylated form cooperates with MAGI2 to suppress AKT1 activation. In motile cells, suppresses the formation of lateral pseudopods and thereby promotes cell polarization and directed movement. Dephosphorylates tyrosine-phosphorylated focal adhesion kinase and inhibits cell migration and integrin-mediated cell spreading and focal adhesion formation (By similarity). Required for growth factor-induced epithelial cell migration; growth factor stimulation induces PTEN phosphorylation which changes its binding preference from the p85 regulatory subunit of the PI3K kinase complex to DLC1 and results in translocation of the PTEN-DLC1 complex to the posterior of migrating cells to promote RHOA activation (By similarity). Meanwhile, TNS3 switches binding preference from DLC1 to p85 and the TNS3-p85 complex translocates to the leading edge of migrating cells to activate RAC1 activation (By similarity). Plays a role as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation (PubMed:10339565, PubMed:19778506). Involved in the regulation of synaptic function in excitatory hippocampal synapses. Recruited to the postsynaptic membrane upon NMDA receptor activation, is required for the modulation of synaptic activity during plasticity. Enhancement of lipid phosphatase activity is able to drive depression of AMPA receptor-mediated synaptic responses, activity required for NMDA receptor-dependent long-term depression (LTD) (By similarity). May be a negative regulator of insulin signaling and glucose metabolism in adipose tissue. The nuclear monoubiquitinated form possesses greater apoptotic potential, whereas the cytoplasmic nonubiquitinated form induces less tumor suppressive ability (By similarity). Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5- trisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo- inositol-4,5-bisphosphate) + phosphate; Xref=Rhea:RHEA:25017, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57836, ChEBI:CHEBI:58456; EC=3.1.3.67; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:25018; Evidence=; Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:20630; Evidence=; Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA- COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47005; Evidence=; Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:10685; Evidence=; Reaction=1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5- trisphosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo- inositol-4,5-bisphosphate) + phosphate; Xref=Rhea:RHEA:43552, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:83416, ChEBI:CHEBI:83419; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43553; Evidence=; Reaction=1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol- 3,4,5-trisphosphate) + H2O = 1,2-dihexadecanoyl-sn-glycero-3-phospho- (1D-myo-inositol-4,5-bisphosphate) + phosphate; Xref=Rhea:RHEA:43560, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:83420, ChEBI:CHEBI:83423; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43561; Evidence=; Reaction=1D-myo-inositol 1,3,4,5,6-pentakisphosphate + H2O = 1D-myo- inositol 1,4,5,6-tetrakisphosphate + phosphate; Xref=Rhea:RHEA:77143, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57627, ChEBI:CHEBI:57733; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77144; Evidence=; Reaction=1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo- inositol 1,4,5-trisphosphate + phosphate; Xref=Rhea:RHEA:77155, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57895, ChEBI:CHEBI:203600; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77156; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Monomer. The unphosphorylated form interacts with the second PDZ domain of MAGI2 (By similarity). Interacts with MAGI2, MAGI3, MAST1 and MAST3, but neither with MAST4 nor with DLG5; interaction with MAGI2 increases protein stability (By similarity). Interacts with NEDD4 (By similarity). Interacts with NDFIP1 and NDFIP2; in the presence of NEDD4 or ITCH, this interaction promotes PTEN ubiquitination (By similarity). Interacts (via C2 domain) with FRK (By similarity). Interacts with USP7; the interaction is direct (By similarity). Interacts with ROCK1 (PubMed:20008297). Interacts with XIAP/BIRC4 (PubMed:19473982). Interacts with STK11; the interaction phosphorylates PTEN (By similarity). Interacts with PPP1R16B (By similarity). Interacts with NOP53; regulates PTEN phosphorylation and increases its stability (By similarity). Interacts (via PDZ domain-binding motif) with DLG4; the interaction is induced by NMDA and is required for PTEN location at postsynaptic density (By similarity). Interacts with the regulatory p85 subunit of the PI3K kinase complex and with Rho GTPase-activating protein DLC1; in resting cells, interacts (via C2 tensin-type domain) with p85 but, following growth factor stimulation, PTEN is phosphorylated which leads to weakened interaction with p85 and enhanced interaction (via C2 tensin-type domain) with DLC1 while p85 interaction with TNS3 increases (By similarity). O08586; P49452: Cenpc; NbExp=2; IntAct=EBI-1186266, EBI-1186252; O08586; Q9JHL1: Nherf2; NbExp=3; IntAct=EBI-1186266, EBI-538451; O08586; B1AZ99: Otud3; NbExp=2; IntAct=EBI-1186266, EBI-16170692; O08586; P02340: Tp53; NbExp=4; IntAct=EBI-1186266, EBI-474016; O08586; P62991: Ubc; NbExp=2; IntAct=EBI-1186266, EBI-413074; O08586; Q6A4J8: Usp7; NbExp=2; IntAct=EBI-1186266, EBI-1216254; Cytoplasm cleus cleus, PML body Cell projection, dendritic spine Postsynaptic density Note=Monoubiquitinated form is nuclear (By similarity). Nonubiquitinated form is cytoplasmic (By similarity). Colocalized with PML and USP7 in PML nuclear bodies (By similarity). XIAP/BIRC4 promotes its nuclear localization (PubMed:19473982). Associares with the postsynaptic density in response to NMDAR activation (By similarity). Expressed in brain (at protein level). Constitutively phosphorylated by CK2 under normal conditions. Phosphorylation results in an inhibited activity towards PIP3. Phosphorylation can both inhibit or promote PDZ-binding. Phosphorylation at Tyr-336 by FRK/PTK5 protects this protein from ubiquitin-mediated degradation probably by inhibiting its binding to NEDD4 (By similarity). Phosphorylation by PLK3 promotes its stability and prevents its degradation by the proteasome. Phosphorylation by ROCK1 is essential for its stability and activity. Phosphorylated on Thr-319 and Thr-321 in the C2-type tensin domain following EGF stimulation which changes its binding preference from the p85 regulatory subunit of the PI3K kinase complex to DLC1 (By similarity). Monoubiquitinated; monoubiquitination is increased in presence of retinoic acid. Deubiquitinated by USP7; leading to its nuclear exclusion. Monoubiquitination of one of either Lys-13 and Lys-289 amino acid is sufficient to modulate PTEN compartmentalization (By similarity). Ubiquitinated by XIAP/BIRC4. Ubiquitinated by the DCX(DCAF13) E3 ubiquitin ligase complex, leading to its degradation. ISGylated. ISGylation promotes PTEN degradation. Belongs to the PTEN phosphatase protein family. angiogenesis negative regulation of protein phosphorylation regulation of B cell apoptotic process phosphatidylinositol-3-phosphatase activity phosphoprotein phosphatase activity protein serine/threonine phosphatase activity protein tyrosine phosphatase activity platelet-derived growth factor receptor binding protein binding nucleus nucleoplasm cytoplasm mitochondrion cytosol plasma membrane protein dephosphorylation lipid metabolic process apoptotic process neuron-neuron synaptic transmission nervous system development synapse assembly central nervous system development heart development aging response to nutrient learning or memory memory locomotory behavior protein tyrosine/serine/threonine phosphatase activity positive regulation of cell proliferation negative regulation of cell proliferation response to glucose cytoplasmic side of plasma membrane response to organic substance response to inorganic substance response to zinc ion positive regulation of gene expression positive regulation of cardiac muscle cell apoptotic process negative regulation of epithelial to mesenchymal transition regulation of neuron projection development negative regulation of neuron projection development anaphase-promoting complex binding response to organic cyclic compound response to activity dephosphorylation phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity apical plasma membrane cell migration PML body hydrolase activity enzyme binding protein kinase binding dentate gyrus development central nervous system neuron axonogenesis PDZ domain binding negative regulation of cell migration adult behavior neuron projection development negative regulation of myelination regulation of protein stability regulation of synaptic transmission, GABAergic central nervous system myelin maintenance response to estradiol regulation of cellular component size cellular response to insulin stimulus regulation of myeloid cell apoptotic process response to ATP multicellular organismal response to stress social behavior ionotropic glutamate receptor binding peptidyl-tyrosine dephosphorylation myelin sheath adaxonal region cellular response to decreased oxygen levels response to drug maternal behavior identical protein binding cell projection neuron projection positive regulation of apoptotic process negative regulation of apoptotic process dendritic spine Schmidt-Lanterman incisure protein kinase B signaling endothelial cell migration cellular response to leptin stimulus postsynaptic membrane response to ethanol locomotor rhythm positive regulation of neuron differentiation negative regulation of cyclin-dependent protein serine/threonine kinase activity negative regulation of cell size negative regulation of organ growth response to arsenic-containing substance inositol phosphate dephosphorylation phosphatidylinositol dephosphorylation platelet-derived growth factor receptor signaling pathway regulation of axon regeneration negative regulation of axon regeneration cardiac muscle tissue development forebrain morphogenesis brain morphogenesis negative regulation of epithelial cell proliferation negative regulation of phagocytosis negative regulation of axonogenesis protein stabilization positive regulation of sequence-specific DNA binding transcription factor activity negative regulation of keratinocyte migration inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity regulation of cell cycle phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity negative regulation of focal adhesion assembly negative regulation of protein kinase B signaling rhythmic synaptic transmission negative regulation of cardiac muscle cell proliferation canonical Wnt signaling pathway synapse maturation prepulse inhibition male mating behavior long-term synaptic potentiation long term synaptic depression regulation of cellular localization prostate gland growth dendritic spine morphogenesis negative regulation of dendritic spine morphogenesis negative regulation of ERK1 and ERK2 cascade positive regulation of ERK1 and ERK2 cascade cellular response to electrical stimulus cellular response to ethanol cellular response to hypoxia negative regulation of ribosome biogenesis negative regulation of cell aging negative regulation of excitatory postsynaptic potential presynaptic membrane assembly postsynaptic density assembly postsynaptic cytosol negative regulation of potassium ion transmembrane transporter activity negative regulation of wound healing, spreading of epidermal cells positive regulation of TRAIL-activated apoptotic signaling pathway positive regulation of ubiquitin protein ligase activity negative regulation of vascular smooth muscle cell proliferation cellular response to nerve growth factor stimulus cellular response to insulin-like growth factor stimulus ubiquitin-specific protease binding protein tyrosine kinase binding positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process negative regulation of G1/S transition of mitotic cell cycle negative regulation of receptor activity positive regulation of excitatory postsynaptic potential negative regulation of synaptic vesicle clustering positive regulation of apoptotic signaling pathway uc008hfr.1 uc008hfr.2 uc008hfr.3 
ENSMUST00000013842.12 Pea15a ENSMUST00000013842.12 proliferation and apoptosis adaptor protein 15A, transcript variant 2 (from RefSeq NM_011063.4) ENSMUST00000013842.1 ENSMUST00000013842.10 ENSMUST00000013842.11 ENSMUST00000013842.2 ENSMUST00000013842.3 ENSMUST00000013842.4 ENSMUST00000013842.5 ENSMUST00000013842.6 ENSMUST00000013842.7 ENSMUST00000013842.8 ENSMUST00000013842.9 NM_011063 PEA15_MOUSE Pea15 Q3U5N7 Q62048 uc007dpy.1 uc007dpy.2 uc007dpy.3 This gene encodes an adaptor protein that functions as a negative regulator of apoptosis induced by tumor necrosis factor-alpha, tumor necrosis factor-related apoptosis-inducing ligand, and Fas, through its interaction with fas-associated protein with death domain and caspase-8. It also regulates proliferation signaling by relocating the extracellular signal-regulated protein kinases 1 and 2 to the cytosol. The protein encoded by this gene contains an N-terminal death effector domain and a long, flexible C-terminal tail. In humans, the encoded protein is an endogenous substrate for protein kinase C. This protein is overexpressed in type 2 diabetes mellitus, where it may contribute to insulin resistance in glucose uptake. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]. Blocks Ras-mediated inhibition of integrin activation and modulates the ERK MAP kinase cascade. Inhibits RPS6KA3 activities by retaining it in the cytoplasm. Inhibits both TNFRSF6- and TNFRSF1A- mediated CASP8 activity and apoptosis. Regulates glucose transport by controlling both the content of SLC2A1 glucose transporters on the plasma membrane and the insulin-dependent trafficking of SLC2A4 from the cell interior to the surface (By similarity). Binds RPS6KA3, MAPK3 and MAPK1. Interacts with CASP8 and FADD (By similarity). Transient interaction with PLD1 and PLD2. Cytoplasm Note=Associated with microtubules. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q62048-1; Sequence=Displayed; Name=2; IsoId=Q62048-2; Sequence=VSP_007736, VSP_007737; Predominantly expressed in the brain. Low levels in some peripheral organs. Phosphorylated by protein kinase C and calcium-calmodulin- dependent protein kinase. These phosphorylation events are modulated by neurotransmitters or hormones. Increases PLD1 and PLD2 levels, possibly by stabilizing the protein. DNA damage checkpoint protein kinase C binding protein binding nucleus cytoplasm cytosol microtubule associated complex apoptotic process carbohydrate transport intracellular signal transduction regulation of apoptotic process response to morphine negative regulation of glucose import negative regulation of extrinsic apoptotic signaling pathway via death domain receptors positive regulation of extrinsic apoptotic signaling pathway via death domain receptors uc007dpy.1 uc007dpy.2 uc007dpy.3 
ENSMUST00000013845.13 Timm23 ENSMUST00000013845.13 translocase of inner mitochondrial membrane 23 (from RefSeq NM_016897.3) ENSMUST00000013845.1 ENSMUST00000013845.10 ENSMUST00000013845.11 ENSMUST00000013845.12 ENSMUST00000013845.2 ENSMUST00000013845.3 ENSMUST00000013845.4 ENSMUST00000013845.5 ENSMUST00000013845.6 ENSMUST00000013845.7 ENSMUST00000013845.8 ENSMUST00000013845.9 NM_016897 Q9CXU4 Q9CXU4_MOUSE Timm23 uc007syn.1 uc007syn.2 uc007syn.3 uc007syn.4 Essential component of the TIM23 complex, a complex that mediates the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. Component of the TIM23 complex at least composed of TIMM23, TIMM17 (TIMM17A or TIMM17B) and TIMM50; within this complex, directly interacts with TIMM50. The complex interacts with the TIMM44 component of the PAM complex and with DNAJC15. Membrane ; Multi- pass membrane protein Mitochondrion inner membrane ulti-pass membrane protein Belongs to the Tim17/Tim22/Tim23 family. mitochondrion mitochondrial inner membrane mitochondrial inner membrane presequence translocase complex intracellular protein transport protein transport P-P-bond-hydrolysis-driven protein transmembrane transporter activity membrane integral component of membrane protein transmembrane transport uc007syn.1 uc007syn.2 uc007syn.3 uc007syn.4 
ENSMUST00000013851.4 Tnfaip8l2 ENSMUST00000013851.4 tumor necrosis factor, alpha-induced protein 8-like 2 (from RefSeq NM_027206.3) ENSMUST00000013851.1 ENSMUST00000013851.2 ENSMUST00000013851.3 NM_027206 Q9D8Y7 TP8L2_MOUSE uc008qif.1 uc008qif.2 Acts as a negative regulator of innate and adaptive immunity by maintaining immune homeostasis. Plays a regulatory role in the Toll- like signaling pathway by determining the strength of LPS-induced signaling and gene expression (PubMed:18455983). Inhibits TCR-mediated T-cell activation and negatively regulate T-cell function to prevent hyperresponsiveness (By similarity). Inhibits also autolysosome formation via negatively modulating MTOR activation by interacting with RAC1 and promoting the disassociation of the RAC1-MTOR complex (PubMed:34524845). Plays an essential role in NK-cell biology by acting as a checkpoint and displaying an expression pattern correlating with NK-cell maturation process and by negatively regulating NK-cell maturation and antitumor immunity (By similarity). Mechanistically, suppresses IL-15-triggered mTOR activity in NK-cells (PubMed:34524845). May interact with CASP8; however, such result is unclear since could not reproduce the interaction with CASP8. Interacts with RAC1. Q9D8Y7; O89110: Casp8; NbExp=2; IntAct=EBI-1781612, EBI-851690; Cytoplasm Nucleus Lysosome Expressed in thymus, spleen, lymph node and small intestine, but not in liver, heart, muscle, testis, spinal cord or brain. Up-regulated in the spinal cord of mice with experimental autoimmune encephalomyelitis. Constitutively expressed by macrophages, B and T-lymphocytes at various developmental stages. By TNF in fibroblasts. The central region was initially thought to constitute a DED (death effector) domain. However, 3D-structure data reveal a previously uncharacterized fold that is different from the predicted fold of a DED (death effector) domain. It consists of a large, hydrophobic central cavity that is poised for cofactor binding (By similarity). Phosphorylated by TAK1/MAP3K7; this phosphorylation triggers association with BTRC and subsequent ubiquitination and degradation. Ubiquitinated in a BTRC-depdent manner; leading to degradation mediated through the proteasome pathway. When infected with lymphocytic choriomeningitis virus (LCMV), TIPE2-deficient mice exhibit significantly enhanced CD4(+) and CD8(+) T-cell immune responses compared with WT mice (PubMed:18455983). TIPE2-deficient NK-cells exhibit enhanced activation, cytotoxicity, and IFN-gamma production upon stimulation and enhanced response to IL-15 for maturation (PubMed:34524845). Belongs to the TNFAIP8 family. TNFAIP8L2 subfamily. immune system process protein binding cytoplasm regulation of apoptotic process innate immune response negative regulation of inflammatory response negative regulation of T cell activation uc008qif.1 uc008qif.2 
ENSMUST00000013886.9 Ppp1r12c ENSMUST00000013886.9 protein phosphatase 1, regulatory subunit 12C, transcript variant 1 (from RefSeq NM_029834.4) ENSMUST00000013886.1 ENSMUST00000013886.2 ENSMUST00000013886.3 ENSMUST00000013886.4 ENSMUST00000013886.5 ENSMUST00000013886.6 ENSMUST00000013886.7 ENSMUST00000013886.8 Mbs85 NM_029834 PP12C_MOUSE Ppp1r12c Q3UMT1 Q9CWD5 uc009exq.1 uc009exq.2 uc009exq.3 Regulates myosin phosphatase activity. PP1 comprises a catalytic subunit, PPP1CA, PPP1CB or PPP1CC, and one or several targeting or regulatory subunits. PPP1R12C mediates binding to myosin. Interacts via its N-terminus with PPP1CB. Interacts with IL16. Interacts with the coiled-coil domain of MPRIP. Interacts with NOD2 (By similarity). Cytoplasm Cytoplasm, cytoskeleton, stress fiber Phosphorylation at Thr-560 is essential for its interaction with PPP1CB. enzyme inhibitor activity cytoplasm cytoskeleton signal transduction phosphatase regulator activity protein kinase binding negative regulation of catalytic activity regulation of catalytic activity uc009exq.1 uc009exq.2 uc009exq.3 
ENSMUST00000013910.5 Ly6g6e ENSMUST00000013910.5 lymphocyte antigen 6 family member G6E, transcript variant 1 (from RefSeq NM_027366.2) ENSMUST00000013910.1 ENSMUST00000013910.2 ENSMUST00000013910.3 ENSMUST00000013910.4 LY66E_MOUSE NM_027366 Q8K1T6 Q9D7E5 uc008cfp.1 uc008cfp.2 uc008cfp.3 Believed to act as a modulator of nicotinic acetylcholine receptors (nAChRs) activity. In vitro potentiates alpha-3:beta-4- containing nAChRs maximum response by increasing peak current and slowing down receptor desensitization; the activity is dependent on its cell surface localization. Interacts with CHRNA4. Cell surface Cell membrane Cell projection Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8K1T6-1; Sequence=Displayed; Name=2; IsoId=Q8K1T6-2; Sequence=VSP_059015; O-glycosylated. Contains sialic acid residues. LY6G6E is a pseudogene in humans. desensitization of G-protein coupled receptor protein signaling pathway transmembrane receptor protein serine/threonine kinase activity plasma membrane transmembrane receptor protein serine/threonine kinase signaling pathway cell surface membrane acetylcholine receptor activator activity acetylcholine receptor binding cell projection acetylcholine receptor signaling pathway regulation of neurotransmitter receptor activity uc008cfp.1 uc008cfp.2 uc008cfp.3 
ENSMUST00000013931.12 Ehmt2 ENSMUST00000013931.12 euchromatic histone lysine N-methyltransferase 2, transcript variant 1 (from RefSeq NM_145830.3) A2CG75 Bat8 EHMT2_MOUSE ENSMUST00000013931.1 ENSMUST00000013931.10 ENSMUST00000013931.11 ENSMUST00000013931.2 ENSMUST00000013931.3 ENSMUST00000013931.4 ENSMUST00000013931.5 ENSMUST00000013931.6 ENSMUST00000013931.7 ENSMUST00000013931.8 ENSMUST00000013931.9 G9a NM_145830 Ng36 Q6PE08 Q8K4R6 Q8K4R7 Q9Z148 Q9Z149 uc008ced.1 uc008ced.2 uc008ced.3 uc008ced.4 uc008ced.5 uc008ced.6 Histone methyltransferase that specifically mono- and dimethylates 'Lys-9' of histone H3 (H3K9me1 and H3K9me2, respectively) in euchromatin. H3K9me represents a specific tag for epigenetic transcriptional repression by recruiting HP1 proteins to methylated histones. Also mediates monomethylation of 'Lys-56' of histone H3 (H3K56me1) in G1 phase, leading to promote interaction between histone H3 and PCNA and regulating DNA replication. Also weakly methylates 'Lys-27' of histone H3 (H3K27me). Also required for DNA methylation, the histone methyltransferase activity is not required for DNA methylation, suggesting that these 2 activities function independently. Probably targeted to histone H3 by different DNA-binding proteins like E2F6, MGA, MAX and/or DP1. May also methylate histone H1. In addition to the histone methyltransferase activity, also methylates non-histone proteins: mediates dimethylation of 'Lys-373' of p53/TP53. Also methylates CDYL, WIZ, ACIN1, DNMT1, HDAC1, ERCC6, KLF12 and itself. Recruited to the promoters of target genes through interaction with transcriptional repressor MSX1, leading to the inhibition of myoblast differentiation via transcriptional repression of differentiation factors (PubMed:22629437). Reaction=N(6)-methyl-L-lysyl(9)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + S-adenosyl-L- homocysteine; Xref=Rhea:RHEA:60284, Rhea:RHEA-COMP:15541, Rhea:RHEA- COMP:15542, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929, ChEBI:CHEBI:61976; Evidence=; Reaction=L-lysyl(9)-[histone H3] + S-adenosyl-L-methionine = H(+) + N(6)-methyl-L-lysyl(9)-[histone H3] + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:60280, Rhea:RHEA-COMP:15542, Rhea:RHEA-COMP:15546, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:61929; EC=2.1.1.367; Evidence=; Heterodimer; heterodimerizes with EHMT1/GLP (PubMed:15774718, PubMed:16702210). Interacts with GFI1B and WIZ (PubMed:16702210). Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EHMT1, RING1, RNF2, MBLR, L3MBTL2 and YAF2 (By similarity). Part of a complex composed of TRIM28, HDAC1, HDAC2 and EHMT2. Interacts with UHRF1 (PubMed:19056828). Interacts with CDYL. Interacts with REST only in the presence of CDYL. Part of a complex containing at least CDYL, REST, WIZ, SETB1, EHMT1 and EHMT2 (By similarity). Interacts with PRDM9 and CDYL; interaction only takes place when PRDM9 is bound to hotspot DNA (PubMed:27932493). Interacts with SMYD5 (PubMed:28250819). Interacts with MSX1 (via homeobox domain) (PubMed:22629437). Q9Z148; O70237: Gfi1b; NbExp=2; IntAct=EBI-444966, EBI-4287943; Q9Z148; P09631: Hoxa9; NbExp=2; IntAct=EBI-444966, EBI-925334; Q9Z148-1; Q07279: Nfe2; NbExp=4; IntAct=EBI-444981, EBI-6554737; Q9Z148-2; O88508-1: Dnmt3a; NbExp=3; IntAct=EBI-15737169, EBI-15650457; Q9Z148-2; O88509: Dnmt3b; NbExp=3; IntAct=EBI-15737169, EBI-7987547; Nucleus Chromosome Note=Almost excluded form nucleoli. Associates with euchromatic regions (By similarity). Does not associate with heterochromatin (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=G9a-L; IsoId=Q9Z148-1; Sequence=Displayed; Name=2; Synonyms=G9a-S; IsoId=Q9Z148-2; Sequence=VSP_002214, VSP_002215, VSP_002216; Name=3; IsoId=Q9Z148-3; Sequence=VSP_002214, VSP_002215; Ubiquitous. Expressed in the developing limb bud at 11.5 dpc (at protein level). The ANK repeats bind H3K9me1 and H3K9me2. The SET domain mediates interaction with WIZ. In the pre-SET domain, Cys residues bind 3 zinc ions that are arranged in a triangular cluster; some of these Cys residues contribute to the binding of two zinc ions within the cluster. Methylated at Lys-239; automethylated. Mice show a higher level of histone H3 with acetylated 'Lys-9' (H3K9ac) and/or methylated 'Lys-4' (H3K4me), display severe developmental defects and die within E9.5-E12.5 stages. Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. Suvar3-9 subfamily. NG36 and G9a were originally thought to derive from two separate genes. Sequence=AAC84164.1; Type=Erroneous gene model prediction; Evidence=; Sequence=AAC84165.1; Type=Erroneous gene model prediction; Evidence=; Sequence=AAH25539.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=AAH58357.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding p53 binding protein binding nucleus nucleoplasm chromosome regulation of DNA replication DNA methylation chromatin organization regulation of transcription from RNA polymerase II promoter synaptonemal complex assembly germ cell development spermatid development long-term memory methyltransferase activity zinc ion binding cellular response to starvation fertilization DNA methylation on cytosine within a CG sequence protein-lysine N-methyltransferase activity histone methylation nuclear speck transferase activity histone-lysine N-methyltransferase activity peptidyl-lysine dimethylation response to nutrient levels methylation histone lysine methylation organ growth cellular response to drug phenotypic switching regulation of DNA methylation response to ethanol metal ion binding histone methyltransferase activity (H3-K9 specific) histone methyltransferase activity (H3-K27 specific) behavioral response to cocaine neuron fate specification histone H3-K9 methylation regulation of histone H3-K4 methylation regulation of histone H3-K9 methylation response to fungicide histone H3-K27 methylation C2H2 zinc finger domain binding cellular response to cocaine negative regulation of autophagosome assembly promoter-specific chromatin binding nucleolus uc008ced.1 uc008ced.2 uc008ced.3 uc008ced.4 uc008ced.5 uc008ced.6 
ENSMUST00000013949.15 Birc3 ENSMUST00000013949.15 baculoviral IAP repeat-containing 3 (from RefSeq NM_007464.3) A2CGA5 A2CGA5_MOUSE Birc3 ENSMUST00000013949.1 ENSMUST00000013949.10 ENSMUST00000013949.11 ENSMUST00000013949.12 ENSMUST00000013949.13 ENSMUST00000013949.14 ENSMUST00000013949.2 ENSMUST00000013949.3 ENSMUST00000013949.4 ENSMUST00000013949.5 ENSMUST00000013949.6 ENSMUST00000013949.7 ENSMUST00000013949.8 ENSMUST00000013949.9 NM_007464 uc009odb.1 uc009odb.2 uc009odb.3 uc009odb.4 uc009odb.5 Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Nucleus Belongs to the IAP family. ubiquitin-protein transferase activity nucleus nucleoplasm cytoplasm cytosol spermatogenesis protein ubiquitination positive regulation of protein ubiquitination macromolecular complex regulation of apoptotic process membrane raft metal ion binding protein heterooligomerization regulation of necroptotic process uc009odb.1 uc009odb.2 uc009odb.3 uc009odb.4 uc009odb.5 
ENSMUST00000013966.8 Elof1 ENSMUST00000013966.8 ELF1 homolog, elongation factor 1, transcript variant 7 (from RefSeq NM_001357314.1) ENSMUST00000013966.1 ENSMUST00000013966.2 ENSMUST00000013966.3 ENSMUST00000013966.4 ENSMUST00000013966.5 ENSMUST00000013966.6 ENSMUST00000013966.7 Elof1 NM_001357314 Q545S6 Q545S6_MOUSE uc009onx.1 uc009onx.2 uc009onx.3 Transcription elongation factor implicated in the maintenance of proper chromatin structure in actively transcribed regions. Nucleus Belongs to the ELOF1 family. translation elongation factor activity nucleus translational elongation metal ion binding uc009onx.1 uc009onx.2 uc009onx.3 
ENSMUST00000013970.9 Pip4k2c ENSMUST00000013970.9 phosphatidylinositol-5-phosphate 4-kinase, type II, gamma, transcript variant 1 (from RefSeq NM_054097.3) ENSMUST00000013970.1 ENSMUST00000013970.2 ENSMUST00000013970.3 ENSMUST00000013970.4 ENSMUST00000013970.5 ENSMUST00000013970.6 ENSMUST00000013970.7 ENSMUST00000013970.8 NM_054097 PI42C_MOUSE Pip4k2c Pip5k2c Q3UFU5 Q91XU3 Q99K02 uc007hiq.1 uc007hiq.2 uc007hiq.3 uc007hiq.4 Phosphatidylinositol 5-phosphate 4-kinase with low enzymatic activity. May be a GTP sensor, has higher GTP-dependent kinase activity than ATP-dependent kinase activity. PIP4Ks negatively regulate insulin signaling through a catalytic-independent mechanism. They interact with PIP5Ks and suppress PIP5K-mediated PtdIns(4,5)P2 synthesis and insulin- dependent conversion to PtdIns(3,4,5)P3. Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5- phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo- inositol-4,5-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:12280, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57795, ChEBI:CHEBI:58456, ChEBI:CHEBI:456216; EC=2.7.1.149; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:12281; Evidence=; Reaction=1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5- phosphate) + ATP = 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo- inositol-4,5-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:55992, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:83423, ChEBI:CHEBI:84968, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55993; Evidence=; Reaction=1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5- phosphate) + GTP = 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo- inositol-4,5-bisphosphate) + GDP + H(+); Xref=Rhea:RHEA:55964, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:58189, ChEBI:CHEBI:83423, ChEBI:CHEBI:84968; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55965; Evidence=; Interacts with PIP5K1A; the interaction inhibits PIP5K1A kinase activity. Endoplasmic reticulum Cytoplasm No significant expression was discerned throughout the prenatal brains except for the olfactory mantle zone, which exhibited the expression signals weakly. On P0 and P7, the expression was weakly positive in the gray matter throughout the brain, with higher expression in the olfactory mitral cell layer. In the cerebellum, the expression was evenly positive in external and internal granule cell layers. On P21 and P56, the expression in non-cortical brain parenchyma was negligible. However, the expression was evident in the olfactory mitral cell layer, the piriform cortex, the hippocampal pyramidal CA1-3, and the cerebellar Purkinje cell layer, although much less distinct in the dentate granule cell layer and the cerebellar granule cell layer. In the cerebral cortex, the expression was weaker in layer V than the other layers. No significant expression was seen in the white matter. Phosphorylated, phosphorylation is induced by EGF. nucleotide binding ATP binding cytoplasm autophagosome endoplasmic reticulum regulation of autophagy membrane kinase activity phosphatidylinositol phosphate kinase activity 1-phosphatidylinositol-4-phosphate 5-kinase activity 1-phosphatidylinositol-5-phosphate 4-kinase activity phosphorylation transferase activity identical protein binding phosphatidylinositol metabolic process phosphatidylinositol phosphorylation positive regulation of autophagosome assembly uc007hiq.1 uc007hiq.2 uc007hiq.3 uc007hiq.4 
ENSMUST00000013995.13 Abca4 ENSMUST00000013995.13 ATP-binding cassette, sub-family A member 4 (from RefSeq NM_007378.1) ABCA4_MOUSE Abca4 Abcr ENSMUST00000013995.1 ENSMUST00000013995.10 ENSMUST00000013995.11 ENSMUST00000013995.12 ENSMUST00000013995.2 ENSMUST00000013995.3 ENSMUST00000013995.4 ENSMUST00000013995.5 ENSMUST00000013995.6 ENSMUST00000013995.7 ENSMUST00000013995.8 ENSMUST00000013995.9 NM_007378 O35600 uc008rel.1 uc008rel.2 uc008rel.3 The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein was the first of the ABC transporters to be observed in photoreceptors and may play a role in the photoresponse. Mutations in the human gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC057853.1, AF000149.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164136 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like the 11- cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk membranes, where N-cis-retinylidene- phosphatidylethanolamine (N-cis-R-PE) is then isomerized to its all- trans isomer (N-trans-R-PE) and reduced by RDH8 to produce all-trans- retinol (all-trans-rol) and therefore prevents the accumulation of excess of 11-cis-retinal and its schiff-base conjugate and the formation of toxic bisretinoid (PubMed:10852960, PubMed:10412977, PubMed:22735453). Displays both ATPase and GTPase activity that is strongly influenced by the lipid environment and the presence of retinoid compounds (By similarity). Binds the unprotonated form of N- retinylidene-phosphatidylethanolamine with high affinity in the absence of ATP and ATP binding and hydrolysis induce a protein conformational change that causes the dissociation of N-retinylidene- phosphatidylethanolamine (By similarity). Reaction=ATP + H2O + N-all-trans- retinylidenephosphatidylethanolamine(out) = ADP + H(+) + N-all-trans- retinylidenephosphatidylethanolamine(in) + phosphate; Xref=Rhea:RHEA:67188, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:167884, ChEBI:CHEBI:456216; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:67189; Evidence=; Reaction=ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.; EC=7.6.2.1; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:66132, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:64612, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:66133; Evidence=; Reaction=ATP + H2O + N-11-cis-retinylidenephosphatidylethanolamine(out) = ADP + H(+) + N-11-cis-retinylidenephosphatidylethanolamine(in) + phosphate; Xref=Rhea:RHEA:67192, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:167887, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:67193; Evidence=; ATPase activity is decreased by cholesterol and ceramide. ATPase activity is stimulated by phosphatidylethanolamine. Phospholipids translocase activity is highly reduced by berylium fluoride and aluminum floride. N-ethylmaleimide inhibits phospholipid translocase activity. Membrane; Multi-pass membrane protein Endoplasmic reticulum Cell projection, cilium, photoreceptor outer segment Note=Localized to the rim and incisures of rod outer segments disks. Retinal-specific (PubMed:9202155). Seems to be exclusively found in the rims of rod photoreceptor cells. The second extracellular domain (ECD2, aa 1395-1680) undergoes conformational change in response to its specific interaction with its substrate all-trans-retinal. Nucleotide binding domain 1 (NBD1, aa 854- 1375) binds preferentially and with high affinity with the 11-cis retinal. N-glycosylated. Proteolytic cleavage by trypsin leads to a 120-kDa N-terminal fragment and a 115-kDa C-terminal fragment that are linked through disulfide bonds. Phosphorylation is independent of light exposure and modulates ATPase activity. Delayed dark adaptation but normal final rod threshold. Belongs to the ABC transporter superfamily. ABCA family. nucleotide binding photoreceptor outer segment lipid transporter activity ATP binding phospholipid transporter activity endoplasmic reticulum integral component of plasma membrane phospholipid transfer to membrane lipid transport visual perception membrane integral component of membrane ATPase activity ATPase activity, coupled to transmembrane movement of substances intracellular membrane-bounded organelle phospholipid translocation photoreceptor cell maintenance response to stimulus transmembrane transport phosphatidylethanolamine-translocating ATPase activity uc008rel.1 uc008rel.2 uc008rel.3 
ENSMUST00000014058.11 Klk10 ENSMUST00000014058.11 kallikrein related-peptidase 10 (from RefSeq NM_133712.2) ENSMUST00000014058.1 ENSMUST00000014058.10 ENSMUST00000014058.2 ENSMUST00000014058.3 ENSMUST00000014058.4 ENSMUST00000014058.5 ENSMUST00000014058.6 ENSMUST00000014058.7 ENSMUST00000014058.8 ENSMUST00000014058.9 Klk10 Klnj NES1 NM_133712 PRSSL1 Q99M20 Q99M20_MOUSE uc009gnq.1 uc009gnq.2 uc009gnq.3 serine-type endopeptidase activity proteolysis secretory granule uc009gnq.1 uc009gnq.2 uc009gnq.3 
ENSMUST00000014065.16 Clip3 ENSMUST00000014065.16 CAP-GLY domain containing linker protein 3, transcript variant 3 (from RefSeq NM_001360764.1) B9EHT4 CLIP3_MOUSE Clipr59 ENSMUST00000014065.1 ENSMUST00000014065.10 ENSMUST00000014065.11 ENSMUST00000014065.12 ENSMUST00000014065.13 ENSMUST00000014065.14 ENSMUST00000014065.15 ENSMUST00000014065.2 ENSMUST00000014065.3 ENSMUST00000014065.4 ENSMUST00000014065.5 ENSMUST00000014065.6 ENSMUST00000014065.7 ENSMUST00000014065.8 ENSMUST00000014065.9 NM_001360764 Q7TNI1 Q9DB67 uc009gea.1 uc009gea.2 Functions as a cytoplasmic linker protein. Involved in TGN- endosome dynamics. May modulate the cellular compartmentalization of AKT kinase family and promote its cell membrane localization, thereby playing a role in glucose transport in adipocytes (By similarity). Homodimer. Interacts with AKT1 and AKT2; when AKT1 and AKT2 are phosphorylated and activated, affinity is higher for AKT2 (By similarity). Interacts with ZDHHC13 (via ANK repeats) (PubMed:26198635). Interacts with ZDHHC17 (via ANK repeats) (PubMed:26198635). Cell membrane ; Lipid-anchor Cytoplasm Golgi apparatus, Golgi stack Note=Localized to Golgi stacks as well as on tubulovesicular elements juxtaposed to Golgi cisternae. Microtubule association is inhibited by the ANK repeats and the Golgi localization region (GoLD). Palmitoylation by ZDHHC17 regulates association with the plasma membrane. The N-terminal half is dispensable for proper Golgi targeting, whereas the GoLD region is required. Sequence=BAB23857.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; positive regulation of protein phosphorylation protein binding cytoplasm Golgi apparatus Golgi stack trans-Golgi network plasma membrane microtubule binding positive regulation of glucose transport membrane peptidyl-L-cysteine S-palmitoylation negative regulation of microtubule polymerization early endosome membrane trans-Golgi network membrane ganglioside binding positive regulation of apoptotic process membrane biogenesis membrane raft fat cell differentiation positive regulation of endocytosis recycling endosome membrane chaperone-mediated protein transport positive regulation of protein localization to plasma membrane uc009gea.1 uc009gea.2 
ENSMUST00000014118.4 Mcemp1 ENSMUST00000014118.4 mast cell expressed membrane protein 1 (from RefSeq NM_026985.2) ENSMUST00000014118.1 ENSMUST00000014118.2 ENSMUST00000014118.3 MCEM1_MOUSE Mcemp1 NM_026985 Q9D8U6 uc009ksi.1 uc009ksi.2 uc009ksi.3 Membrane ; Single- pass type II membrane protein molecular_function cellular_component biological_process membrane integral component of membrane uc009ksi.1 uc009ksi.2 uc009ksi.3 
ENSMUST00000014174.14 Pax5 ENSMUST00000014174.14 paired box 5 (from RefSeq NM_008782.3) ENSMUST00000014174.1 ENSMUST00000014174.10 ENSMUST00000014174.11 ENSMUST00000014174.12 ENSMUST00000014174.13 ENSMUST00000014174.2 ENSMUST00000014174.3 ENSMUST00000014174.4 ENSMUST00000014174.5 ENSMUST00000014174.6 ENSMUST00000014174.7 ENSMUST00000014174.8 ENSMUST00000014174.9 NM_008782 PAX5_MOUSE Pax-5 Q02650 uc008srx.1 uc008srx.2 uc008srx.3 Transcription factor that plays an essential role in commitment of lymphoid progenitors to the B-lymphocyte lineage (PubMed:9042861). Fulfills a dual role by repressing B-lineage inappropriate genes and simultaneously activating B-lineage-specific genes (PubMed:16546096). In turn, regulates cell adhesion and migration, induces V(H)-to-D(H)J(H) recombination, facilitates pre-B- cell receptor signaling and promotes development to the mature B-cell stage (PubMed:9042861, PubMed:16546096). Repression of the cohesin- release factor WAPL causes global changes of the chromosomal architecture in pro-B cells to facilitate the generation of a diverse antibody repertoire (By similarity). Interacts with ETS1; this interaction alters PAX5 DNA-binding properties. Binds DNA as a monomer. Interacts with TBP; this interaction allows PAX5 to interact with the basal transcription machinery. Interacts with RB1. Interacts with TLE4 (By similarity). Interacts with DAXX (PubMed:11799127). Q02650; Q6NZQ4: Paxip1; NbExp=3; IntAct=EBI-296260, EBI-1395317; Q02650; Q9UER7: DAXX; Xeno; NbExp=4; IntAct=EBI-296260, EBI-77321; Nucleus Expressed in all B-lymphoid organs, in the embryonic midbrain and in adult testis. O-glycosylated. Phosphorylated by SYK. This phosphorylation plays an important role in the abolition of BLIMP1 repression by PAX5 in order to trigger plasma cell differentiation. Mutant mice fail to produce small pre-B, B, and plasma cells and therefore lack any immunoglobulin in their serum owing to a complete arrest of B-cell development at an early stage. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding fibrillar center DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex cytosol regulation of transcription, DNA-templated multicellular organism development spermatogenesis nervous system development aging animal organ morphogenesis lateral ventricle development cerebral cortex development cell differentiation adult behavior skeletal muscle cell differentiation intracellular membrane-bounded organelle negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter embryonic cranial skeleton morphogenesis negative regulation of histone H3-K9 methylation dopaminergic neuron differentiation uc008srx.1 uc008srx.2 uc008srx.3 
ENSMUST00000014218.15 Rnf168 ENSMUST00000014218.15 E3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at double-strand breaks (DSBs) by binding to ubiquitinated histone H2A and H2AX and amplifies the RNF8-dependent H2A ubiquitination, promoting the formation of 'Lys-63'-linked ubiquitin conjugates. This leads to concentrate ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and BRCA1. Also recruited at DNA interstrand cross-links (ICLs) sites and promotes accumulation of 'Lys-63'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20 and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription and repair intermediates. Also involved in class switch recombination in immune system, via its role in regulation of DSBs repair. Following DNA damage, promotes the ubiquitination and degradation of JMJD2A/KDM4A in collaboration with RNF8, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage sites. Not able to initiate 'Lys-63'-linked ubiquitination in vitro; possibly due to partial occlusion of the UBE2N/UBC13-binding region. Catalyzes monoubiquitination of 'Lys-13' and 'Lys-15' of nucleosomal histone H2A (H2AK13Ub and H2AK15Ub, respectively). (from UniProt Q80XJ2) BC046815 ENSMUST00000014218.1 ENSMUST00000014218.10 ENSMUST00000014218.11 ENSMUST00000014218.12 ENSMUST00000014218.13 ENSMUST00000014218.14 ENSMUST00000014218.2 ENSMUST00000014218.3 ENSMUST00000014218.4 ENSMUST00000014218.5 ENSMUST00000014218.6 ENSMUST00000014218.7 ENSMUST00000014218.8 ENSMUST00000014218.9 Q80XJ2 RN168_MOUSE Rnf168 uc289ecq.1 uc289ecq.2 E3 ubiquitin-protein ligase required for accumulation of repair proteins to sites of DNA damage. Acts with UBE2N/UBC13 to amplify the RNF8-dependent histone ubiquitination. Recruited to sites of DNA damage at double-strand breaks (DSBs) by binding to ubiquitinated histone H2A and H2AX and amplifies the RNF8-dependent H2A ubiquitination, promoting the formation of 'Lys-63'-linked ubiquitin conjugates. This leads to concentrate ubiquitinated histones H2A and H2AX at DNA lesions to the threshold required for recruitment of TP53BP1 and BRCA1. Also recruited at DNA interstrand cross-links (ICLs) sites and promotes accumulation of 'Lys-63'-linked ubiquitination of histones H2A and H2AX, leading to recruitment of FAAP20 and Fanconi anemia (FA) complex, followed by interstrand cross-link repair. H2A ubiquitination also mediates the ATM-dependent transcriptional silencing at regions flanking DSBs in cis, a mechanism to avoid collision between transcription and repair intermediates. Also involved in class switch recombination in immune system, via its role in regulation of DSBs repair. Following DNA damage, promotes the ubiquitination and degradation of JMJD2A/KDM4A in collaboration with RNF8, leading to unmask H4K20me2 mark and promote the recruitment of TP53BP1 at DNA damage sites. Not able to initiate 'Lys-63'-linked ubiquitination in vitro; possibly due to partial occlusion of the UBE2N/UBC13-binding region. Catalyzes monoubiquitination of 'Lys-13' and 'Lys-15' of nucleosomal histone H2A (H2AK13Ub and H2AK15Ub, respectively). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Protein modification; protein ubiquitination. Monomer. Interacts with UBE2N/UBC13. Nucleus Note=Localizes to double-strand breaks (DSBs) sites of DNA damage. The MIU motif (motif interacting with ubiquitin) mediates the interaction with both 'Lys-48'- and 'Lys-63'-linked ubiquitin chains. The UMI motif mediates interaction with ubiquitin with a preference for 'Lys-63'-linked ubiquitin. The specificity for different types of ubiquitin is mediated by juxtaposition of ubiquitin-binding motifs (MIU and UMI motifs) with LR motifs (LRMs). Sumoylated with SUMO1 by PIAS4 in response to double-strand breaks (DSBs). Ubiquitinated. Belongs to the RNF168 family. According to a well-established model, RNF168 cannot initiate H2A 'Lys-63'-linked ubiquitination and is recruited following RNF8- dependent histone ubiquitination to amplify H2A 'Lys-63'-linked ubiquitination. However, other data suggest that RNF168 is the priming ubiquitin ligase by mediating monoubiquitination of 'Lys-13' and 'Lys- 15' of nucleosomal histone H2A (H2AK13Ub and H2AK15Ub respectively). These data suggest that RNF168 might be recruited to DSBs sites in a RNF8-dependent manner by binding to non-histone proteins ubiquitinated via 'Lys-63'-linked and initiates monoubiquitination of H2A, which is then amplified by RNF8. Additional evidence is however required to confirm these data. Sequence=AAH46815.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=AAH46815.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; ubiquitin ligase complex chromatin binding ubiquitin-protein transferase activity nucleus nucleoplasm cytosol DNA repair double-strand break repair chromatin organization ubiquitin-dependent protein catabolic process cellular response to DNA damage stimulus response to ionizing radiation protein ubiquitination transferase activity nucleosome binding macromolecular complex histone H2A ubiquitination negative regulation of transcription elongation from RNA polymerase II promoter cellular response to UV histone H2A monoubiquitination site of double-strand break histone H2A-K13 ubiquitination histone H2A-K15 ubiquitination histone binding ubiquitin binding isotype switching positive regulation of DNA repair metal ion binding K63-linked polyubiquitin binding protein K63-linked ubiquitination histone H2A K63-linked ubiquitination regulation of cellular protein localization DNA repair complex uc289ecq.1 uc289ecq.2 
ENSMUST00000014220.15 Dynlt2b ENSMUST00000014220.15 dynein light chain Tctex-type 2B, transcript variant 3 (from RefSeq NR_154990.1) DYT2B_MOUSE ENSMUST00000014220.1 ENSMUST00000014220.10 ENSMUST00000014220.11 ENSMUST00000014220.12 ENSMUST00000014220.13 ENSMUST00000014220.14 ENSMUST00000014220.2 ENSMUST00000014220.3 ENSMUST00000014220.4 ENSMUST00000014220.5 ENSMUST00000014220.6 ENSMUST00000014220.7 ENSMUST00000014220.8 ENSMUST00000014220.9 NR_154990 Q9CQ66 Tctex1d2 uc007yyt.1 uc007yyt.2 uc007yyt.3 Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system. Required for proper retrograde ciliary transport. Light chain of the cytoplasmic dynein complex 2, a multisubunit complex composed at least of eleven different proteins. The cytoplasmic dynein 2 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs). Among them, a heavy chain (DYNC2H1), two intermediate chains (DYNC2I2 and DYNC2I1), a light intermediate chain (DYNC2LI1), and a light chain (DYNLT2B) are unique to the dynein-2 complex, but a subset of the light chains are also shared by dynein-1 and dynein-2 complexes. The dimer DYNLT2B-DYNLT1/DYNLT3 interacts with DYNC2I1; this interaction is crucial for retrograde trafficking of ciliary proteins. Dynein axonemal particle Belongs to the dynein light chain Tctex-type family. cytoplasmic dynein complex dynein intermediate chain binding cilium assembly regulation of cilium assembly spindle pole centrosome axoneme interphase microtubule organizing center ciliary base uc007yyt.1 uc007yyt.2 uc007yyt.3 
ENSMUST00000014221.13 Chp1 ENSMUST00000014221.13 calcineurin-like EF hand protein 1 (from RefSeq NM_019769.3) CHP1_MOUSE Chp ENSMUST00000014221.1 ENSMUST00000014221.10 ENSMUST00000014221.11 ENSMUST00000014221.12 ENSMUST00000014221.2 ENSMUST00000014221.3 ENSMUST00000014221.4 ENSMUST00000014221.5 ENSMUST00000014221.6 ENSMUST00000014221.7 ENSMUST00000014221.8 ENSMUST00000014221.9 NM_019769 P61022 Q62877 Q6ZWQ8 Sid470 uc008ltw.1 uc008ltw.2 uc008ltw.3 uc008ltw.4 Calcium-binding protein involved in different processes such as regulation of vesicular trafficking, plasma membrane Na(+)/H(+) exchanger and gene transcription. Involved in the constitutive exocytic membrane traffic. Mediates the association between microtubules and membrane-bound organelles of the endoplasmic reticulum and Golgi apparatus and is also required for the targeting and fusion of transcytotic vesicles (TCV) with the plasma membrane. Functions as an integral cofactor in cell pH regulation by controlling plasma membrane- type Na(+)/H(+) exchange activity. Affects the pH sensitivity of SLC9A1/NHE1 by increasing its sensitivity at acidic pH. Required for the stabilization and localization of SLC9A1/NHE1 at the plasma membranes. Inhibits serum- and GTPase-stimulated Na(+)/H(+) exchange. Plays a role as an inhibitor of ribosomal RNA transcription by repressing the nucleolar UBF1 transcriptional activity. May sequester UBF1 in the nucleoplasm and limit its translocation to the nucleolus. Associates to the ribosomal gene promoter. Acts as a negative regulator of the calcineurin/NFAT signaling pathway. Inhibits NFAT nuclear translocation and transcriptional activity by suppressing the calcium- dependent calcineurin phosphatase activity. Also negatively regulates the kinase activity of the apoptosis-induced kinase STK17B. Inhibits both STK17B auto- and substrate-phosphorylations in a calcium-dependent manner (By similarity). Monomer. Interacts with STK17B; the interaction occurs in a calcium-independent manner and induces the translocation of CHP1 from the Golgi to the nucleus. Interacts with GAPDH; the interaction is direct, occurs in a N-myristoylation-dependent manner and facilitates the ability of CHP1 to bind microtubules. Interacts with KIF1B (via the C-terminal end of the kinesin-motor domain); the interaction occurs in a calcium-dependent manner. Associates (via C-terminal domain) with microtubules; the association occurs with polymerized microtubules during the cell cycle in a myristoylation- and calcium-independent manner and is enhanced by GAPDH. Interacts with PPP3CA. Interacts with SLC9A1/NHE1 (via the cytoplasmic C-terminal domain); the interaction occurs at the plasma membrane in a calcium-dependent manner and at a domain that is critical for growth factor stimulation of the exchanger (By similarity). Interacts with SLC9A3; increases SLC9A3 trafficking and activity at the plasma membrane (By similarity). Nucleus Cytoplasm Cytoplasm, cytoskeleton Endomembrane system Endoplasmic reticulum-Golgi intermediate compartment Endoplasmic reticulum Cell membrane Membrane ; Lipid-anchor Note=Localizes in cytoplasmic compartments in dividing cells. Localizes in the nucleus in quiescent cells. Exported from the nucleus to the cytoplasm through a nuclear export signal (NES) and CRM1-dependent pathway. May shuttle between nucleus and cytoplasm. Localizes with the microtubule-organizing center (MTOC) and extends toward the periphery along microtubules. Associates with membranes of the early secretory pathway in a GAPDH-independent, N-myristoylation- and calcium-dependent manner. Colocalizes with the mitotic spindle microtubules. Colocalizes with GAPDH along microtubules. Colocalizes with SLC9A1 at the reticulum endoplasmic and plasma membrane. Colocalizes with STK17B at the plasma membrane. Phosphorylated; decreased phosphorylation is associated with an increase in SLC9A1/NHE1 Na(+)/H(+) exchange activity. Phosphorylation occurs in serum-dependent manner. The phosphorylation state may regulate the binding to SLC9A1/NHE1 (By similarity). Both N-myristoylation and calcium-mediated conformational changes are essential for its function in exocytic traffic. N-myristoylation is required for its association with microtubules and interaction with GAPDH, but not for the constitutive association to membranes (By similarity). Belongs to the calcineurin regulatory subunit family. CHP subfamily. Golgi membrane microtubule bundle formation negative regulation of protein phosphorylation protein kinase inhibitor activity calcium ion binding nucleus cytoplasm endoplasmic reticulum endoplasmic reticulum-Golgi intermediate compartment cytosol cytoskeleton plasma membrane negative regulation of protein kinase activity protein export from nucleus microtubule binding negative regulation of phosphatase activity endomembrane system protein transport microtubule cytoskeleton membrane calcium ion regulated exocytosis kinase binding membrane docking transport vesicle cytoplasmic microtubule organization negative regulation of protein ubiquitination negative regulation of protein autophosphorylation negative regulation of NF-kappaB transcription factor activity positive regulation of sodium:proton antiporter activity negative regulation of protein import into nucleus transcytosis metal ion binding calcium-dependent protein binding protein stabilization positive regulation of protein transport protein oligomerization regulation of intracellular pH positive regulation of protein glycosylation membrane organization membrane fusion negative regulation of calcineurin-NFAT signaling cascade cellular response to acidic pH positive regulation of protein targeting to membrane regulation of neuron death uc008ltw.1 uc008ltw.2 uc008ltw.3 uc008ltw.4 
ENSMUST00000014248.11 Sval2 ENSMUST00000014248.11 seminal vesicle antigen-like 2 (from RefSeq NM_032542.2) ENSMUST00000014248.1 ENSMUST00000014248.10 ENSMUST00000014248.2 ENSMUST00000014248.3 ENSMUST00000014248.4 ENSMUST00000014248.5 ENSMUST00000014248.6 ENSMUST00000014248.7 ENSMUST00000014248.8 ENSMUST00000014248.9 NM_032542 Q99N75 Q99N75_MOUSE Sval2 mSLP-M slpm uc009bqi.1 uc009bqi.2 uc009bqi.3 Monomer. Interacts with AZGP1. Belongs to the PIP family. regulation of immune system process aspartic-type endopeptidase activity extracellular region extracellular space proteolysis uc009bqi.1 uc009bqi.2 uc009bqi.3 
ENSMUST00000014290.15 Apbb1ip ENSMUST00000014290.15 amyloid beta precursor protein binding family B member 1 interacting protein (from RefSeq NM_019456.2) AB1IP_MOUSE ENSMUST00000014290.1 ENSMUST00000014290.10 ENSMUST00000014290.11 ENSMUST00000014290.12 ENSMUST00000014290.13 ENSMUST00000014290.14 ENSMUST00000014290.2 ENSMUST00000014290.3 ENSMUST00000014290.4 ENSMUST00000014290.5 ENSMUST00000014290.6 ENSMUST00000014290.7 ENSMUST00000014290.8 ENSMUST00000014290.9 NM_019456 O35329 Prel1 Q8BRU0 Q8R5A3 Q99KV8 uc008ino.1 uc008ino.2 uc008ino.3 uc008ino.4 Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling. Suppresses insulin-induced promoter activities through AP1 and SRE. Mediates Rap1-induced adhesion (By similarity). Interacts, through the N-terminal Pro-rich region, with the WW domain of APBB1. Interacts with RAP1A, PFN1, VASP and ENAH. Q8R5A3; P26039: Tln1; NbExp=8; IntAct=EBI-7450496, EBI-1039593; Cell membrane ; Peripheral membrane protein Cell projection, lamellipodium Cell junction, focal adhesion Cytoplasm, cytoskeleton Note=Colocalizes with ENA/VASP proteins at lamellipodia tips and focal adhesions, and F-actin at the leading edge. At the membrane surface, associates, via the PH domain, preferentially with the inositol phosphates, PtdIns(5)P and PtdIns(3)P. This binding appears to be necessary for the efficient interaction of the RA domain to Ras-GTPases. Ubiquitously expressed with high expression in the hematopoietic system. Belongs to the MRL family. Sequence=AAB94880.1; Type=Frameshift; Evidence=; T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell protein binding cytoplasm cytosol cytoskeleton plasma membrane focal adhesion signal transduction membrane lamellipodium cell junction T cell receptor complex cell projection positive regulation of cell adhesion uc008ino.1 uc008ino.2 uc008ino.3 uc008ino.4 
ENSMUST00000014321.5 Tvp23b ENSMUST00000014321.5 trans-golgi network vesicle protein 23B, transcript variant 1 (from RefSeq NM_026210.5) ENSMUST00000014321.1 ENSMUST00000014321.2 ENSMUST00000014321.3 ENSMUST00000014321.4 Fam18b Fam18b1 NM_026210 Q3UBJ3 Q9D8T4 TV23B_MOUSE uc007jkh.1 uc007jkh.2 uc007jkh.3 Membrane ; Multi-pass membrane protein Belongs to the TVP23 family. molecular_function protein secretion membrane integral component of membrane vesicle-mediated transport integral component of Golgi membrane uc007jkh.1 uc007jkh.2 uc007jkh.3 
ENSMUST00000014339.15 Dnajc7 ENSMUST00000014339.15 DnaJ heat shock protein family (Hsp40) member C7, transcript variant 1 (from RefSeq NM_019795.5) DNJC7_MOUSE ENSMUST00000014339.1 ENSMUST00000014339.10 ENSMUST00000014339.11 ENSMUST00000014339.12 ENSMUST00000014339.13 ENSMUST00000014339.14 ENSMUST00000014339.2 ENSMUST00000014339.3 ENSMUST00000014339.4 ENSMUST00000014339.5 ENSMUST00000014339.6 ENSMUST00000014339.7 ENSMUST00000014339.8 ENSMUST00000014339.9 NM_019795 Q3TKR1 Q6VVW6 Q8BPG3 Q8CIL2 Q9CT29 Q9D026 Q9QYI3 Ttc2 uc007lls.1 uc007lls.2 uc007lls.3 Acts as a co-chaperone regulating the molecular chaperones HSP70 and HSP90 in folding of steroid receptors, such as the glucocorticoid receptor and the progesterone receptor. Proposed to act as a recycling chaperone by facilitating the return of chaperone substrates to early stages of chaperoning if further folding is required. In vitro, induces ATP-independent dissociation of HSP90 but not of HSP70 from the chaperone-substrate complexes (By similarity). Recruits NR1I3 to the cytoplasm. Associates with complexes containing chaperones HSP70 and HSP90. Interacts with the GAP domain of NF1. Interacts with HSP90AA1. Interacts with HSPA1A/B; the interaction is enhanced by ATP. Interacts with HSP90AB1. Interacts with PGR. Interacts with RAD9A; the interaction is interrupted by UV and heat shock treatments. Interacts with HUS1 and RAD1 (By similarity). Interacts with NR1I3; this complex may also include HSP90 Interacts with HSPA8 (By similarity). Cytoplasm Nucleus Cytoplasm, cytoskeleton Note=Colocalizes with NR1I3 at microtubules. Widely expressed with high levels in liver, skeletal muscle, kidney and testis. nucleus nucleoplasm cytoplasm cytosol cytoskeleton heat shock protein binding chaperone mediated protein folding requiring cofactor uc007lls.1 uc007lls.2 uc007lls.3 
ENSMUST00000014370.11 Cacybp ENSMUST00000014370.11 calcyclin binding protein, transcript variant 1 (from RefSeq NM_009786.3) CYBP_MOUSE ENSMUST00000014370.1 ENSMUST00000014370.10 ENSMUST00000014370.2 ENSMUST00000014370.3 ENSMUST00000014370.4 ENSMUST00000014370.5 ENSMUST00000014370.6 ENSMUST00000014370.7 ENSMUST00000014370.8 ENSMUST00000014370.9 NM_009786 O70140 Q9CXW3 Sip uc007deg.1 uc007deg.2 uc007deg.3 uc007deg.4 May be involved in calcium-dependent ubiquitination and subsequent proteasomal degradation of target proteins. Probably serves as a molecular bridge in ubiquitin E3 complexes. Participates in the ubiquitin-mediated degradation of beta-catenin (CTNNB1) (By similarity). Monomer or homodimer. Component of some large E3 complex at least composed of UBE2D1, SIAH1, CACYBP/SIP, SKP1, APC and TBL1X. Interacts directly with SIAH1, SIAH2 and SKP1 (By similarity). Interacts with proteins of the S100 family S100A1, S100A6, S100B, S100P and S100A12 in a calcium-dependent manner (By similarity). Q9CXW3; P14069: S100a6; NbExp=4; IntAct=EBI-767146, EBI-6478740; Q9CXW3; P02639: S100A1; Xeno; NbExp=4; IntAct=EBI-767146, EBI-6477285; Q9CXW3; P02638: S100B; Xeno; NbExp=4; IntAct=EBI-767146, EBI-458452; Q9CXW3; P25815: S100P; Xeno; NbExp=2; IntAct=EBI-767146, EBI-743700; Nucleus Cytoplasm Note=Cytoplasmic in unstimulated cultured neurons. Upon increase of calcium, it localizes to a ring around the nucleus. In neuroblastoma cells, after a Retinoic acid (RA) induction and calcium increase, it localizes in both the nucleus and cytoplasm. The nuclear and perinuclear fractions may be phosphorylated. Highly expressed in brain and EAT cells. Expressed at low level in heart, muscle, and at very low level in the liver, spleen, lung, kidney and stomach. Phosphorylated on serine residues. Phosphorylated upon induction by RA or at high calcium concentrations. Sequence=AAC16757.1; Type=Erroneous initiation; Evidence=; protein binding nucleus nuclear envelope lumen nucleoplasm cytoplasm cytosol heart development aging tubulin binding SCF ubiquitin ligase complex protein domain specific binding beta-catenin destruction complex ubiquitin protein ligase binding protein homodimerization activity neuron projection cell body S100 protein binding positive regulation of DNA replication cardiac muscle cell differentiation response to growth hormone negative regulation of cell death cellular response to calcium ion cellular response to leukemia inhibitory factor uc007deg.1 uc007deg.2 uc007deg.3 uc007deg.4 
ENSMUST00000014389.6 Pigl ENSMUST00000014389.6 phosphatidylinositol glycan anchor biosynthesis, class L, transcript variant 1 (from RefSeq NM_001039536.4) ENSMUST00000014389.1 ENSMUST00000014389.2 ENSMUST00000014389.3 ENSMUST00000014389.4 ENSMUST00000014389.5 Gm737 NM_001039536 PIGL_MOUSE Q5SX19 uc007jje.1 uc007jje.2 uc007jje.3 Catalyzes the second step of glycosylphosphatidylinositol (GPI) biosynthesis, which is the de-N-acetylation of N- acetylglucosaminyl-phosphatidylinositol. Reaction=a 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo- inositol + H2O = acetate + an alpha-D-GlcN-(1->6)-(1,2-diacyl-sn- glycero-3-phospho)-1D-myo-inositol; Xref=Rhea:RHEA:11660, ChEBI:CHEBI:15377, ChEBI:CHEBI:30089, ChEBI:CHEBI:57265, ChEBI:CHEBI:57997; EC=3.5.1.89; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11661; Evidence=; Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. Endoplasmic reticulum membrane ; Single-pass type I membrane protein Retained in the ER by two retention signals, one located in cytoplasmic domain, and a second signal in transmembrane domain that is functional in the presence of membrane proximal residues of the cytoplasmic tail. Deficient mice exhibit early lethality (9.5-10.5 dpc) and is associated with severe placental malformations. Belongs to the PIGL family. N-acetylglucosaminylphosphatidylinositol deacetylase activity cellular_component endoplasmic reticulum endoplasmic reticulum membrane GPI anchor biosynthetic process membrane integral component of membrane hydrolase activity uc007jje.1 uc007jje.2 uc007jje.3 
ENSMUST00000014438.5 Ndufa2 ENSMUST00000014438.5 NADH:ubiquinone oxidoreductase subunit A2 (from RefSeq NM_010885.5) ENSMUST00000014438.1 ENSMUST00000014438.2 ENSMUST00000014438.3 ENSMUST00000014438.4 NDUA2_MOUSE NM_010885 Q9CQ75 Q9WUB2 uc008eoj.1 uc008eoj.2 uc008eoj.3 uc008eoj.4 This gene encodes a subunit of the NADH-ubiquinone oxidoreductase (complex I) enzyme, which is a large, multimeric protein. It is the first enzyme complex in the mitochondrial electron transport chain and catalyzes the transfer of electrons from NADH to the electron acceptor ubiquinone. The proton gradient created by electron transfer drives the conversion of ADP to ATP. The human ortholog of this gene has been characterized, and its structure and redox potential is reported to be similar to that of thioredoxins. It may be involved in regulating complex I activity or assembly via assistance in redox processes. In humans, mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. A pseudogene of this gene is located on chromosome 5. [provided by RefSeq, May 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BQ746689.1, CD769118.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849382, SAMN00849385 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: PMID: 23038253; reported by MitoCarta RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Complex I is composed of 45 different subunits. Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side Acetylation of Lys-64 and Lys-75 is observed in liver mitochondria from fasted mice but not from fed mice. Belongs to the complex I NDUFA2 subunit family. blastocyst hatching mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity membrane mitochondrial membrane mitochondrial respiratory chain complex I assembly oxidation-reduction process respiratory chain uc008eoj.1 uc008eoj.2 uc008eoj.3 uc008eoj.4 
ENSMUST00000014445.7 Pam16 ENSMUST00000014445.7 presequence translocase-asssociated motor 16 (from RefSeq NM_025571.1) ENSMUST00000014445.1 ENSMUST00000014445.2 ENSMUST00000014445.3 ENSMUST00000014445.4 ENSMUST00000014445.5 ENSMUST00000014445.6 Magmas NM_025571 Pam16 Q6EIX1 Q9CQV1 TIM16_MOUSE Tim16 Timm16 uc007xzx.1 uc007xzx.2 uc007xzx.3 Regulates ATP-dependent protein translocation into the mitochondrial matrix. Inhibits DNAJC19 stimulation of HSPA9/Mortalin ATPase activity. Probable component of the PAM complex at least composed of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2, TIMM44, TIMM16/PAM16 and TIMM14/DNAJC19 (By similarity). Interacts with DNAJC19. Directly interacts with DNAJC15; this interaction counteracts DNAJC15-dependent stimulation of HSPA9 ATPase activity (By similarity). Associates with the TIM23 complex (Probable). Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side Expressed in trabecular bone and cartilage and by differentiated chondrocytes localized in the hypertrophic zone and by osteoblasts at early developmental stages. The J-like region, although related to the J domain does not have co-chaperone activity. Belongs to the TIM16/PAM16 family. presequence translocase-associated import motor ossification molecular_function cytoplasm mitochondrion mitochondrial inner membrane mitochondrial inner membrane presequence translocase complex mitochondrial matrix protein transport membrane protein import into mitochondrial matrix extrinsic component of mitochondrial inner membrane negative regulation of ATPase activity macromolecular complex negative regulation of apoptotic process DNA biosynthetic process negative regulation of release of cytochrome c from mitochondria negative regulation of apoptotic DNA fragmentation negative regulation of apoptotic signaling pathway uc007xzx.1 uc007xzx.2 uc007xzx.3 
ENSMUST00000014447.13 Glis2 ENSMUST00000014447.13 GLIS family zinc finger 2 (from RefSeq NM_031184.3) ENSMUST00000014447.1 ENSMUST00000014447.10 ENSMUST00000014447.11 ENSMUST00000014447.12 ENSMUST00000014447.2 ENSMUST00000014447.3 ENSMUST00000014447.4 ENSMUST00000014447.5 ENSMUST00000014447.6 ENSMUST00000014447.7 ENSMUST00000014447.8 ENSMUST00000014447.9 GLIS2_MOUSE Gli5 NM_031184 Nkl Q8R4X9 Q8VDL9 Q99MY6 Q99P73 uc007xzw.1 uc007xzw.2 Can act either as a transcriptional repressor or as a transcriptional activator, depending on the cell context. Acts as a repressor of the Hedgehog signaling pathway. Represses the Hedgehog- dependent expression of Wnt4. Necessary to maintain the differentiated epithelial phenotype in renal cells through the inhibition of SNAI1, which itself induces the epithelial-to-mesenchymal transition. Represses transcriptional activation by CTNNB1 in the Wnt signaling pathway. May act by recruiting the corepressors CTBP1 and HDAC3. May be involved in neuron differentiation. Interacts with CTBP1 and HDAC3. Interacts with CTNNB1 and CTNND1. Interacts with SUFU. Nucleus speckle. Cytoplasm. Expressed at high levels in kidney, and at lower levels in heart and lung. Expression begins at 9.5 dpc in cranial ganglia, dorsal root ganglia and neural tube. At 10.5 dpc, broadly expressed in the intermediate zone of the hindbrain, spinal cord and dorsal root ganglia. By 12.5 dpc, expression in the spinal cord becomes restricted to a narrow band of cells in the ventricular zone. The C2H2-type zinc finger 1 has a major repressor function and is required for CTNNB1 binding. C-terminus cleavage is induced by interaction with CTNND1 and enhances by Src tyrosine kinase. Belongs to the GLI C2H2-type zinc-finger protein family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding kidney development nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus transcription factor complex cytoplasm regulation of transcription from RNA polymerase II promoter multicellular organism development nervous system development central nervous system development nuclear speck cell differentiation negative regulation of sequence-specific DNA binding transcription factor activity transcription regulatory region DNA binding negative regulation of smoothened signaling pathway negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding regulation of transcription from RNA polymerase II promoter involved in kidney development cell differentiation involved in kidney development non-motile cilium positive regulation of protein localization to nucleus uc007xzw.1 uc007xzw.2 
ENSMUST00000014457.15 Cox6c ENSMUST00000014457.15 cytochrome c oxidase subunit 6C (from RefSeq NM_053071.2) COX6C_MOUSE ENSMUST00000014457.1 ENSMUST00000014457.10 ENSMUST00000014457.11 ENSMUST00000014457.12 ENSMUST00000014457.13 ENSMUST00000014457.14 ENSMUST00000014457.2 ENSMUST00000014457.3 ENSMUST00000014457.4 ENSMUST00000014457.5 ENSMUST00000014457.6 ENSMUST00000014457.7 ENSMUST00000014457.8 ENSMUST00000014457.9 NM_053071 Q52KC6 Q9CPQ1 uc007vmi.1 uc007vmi.2 Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol- cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Electrons originating from reduced cytochrome c in the intermembrane space (IMS) are transferred via the dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1 to the active site in subunit 1, a binuclear center (BNC) formed by heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2 water molecules using 4 electrons from cytochrome c in the IMS and 4 protons from the mitochondrial matrix. Energy metabolism; oxidative phosphorylation. Component of the cytochrome c oxidase (complex IV, CIV), a multisubunit enzyme composed of 14 subunits. The complex is composed of a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in the mitochondrial DNA, and 11 supernumerary subunits COX4I, COX5A, COX5B, COX6A, COX6B, COX6C, COX7A, COX7B, COX7C, COX8 and NDUFA4, which are encoded in the nuclear genome. The complex exists as a monomer or a dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)). Mitochondrion inner membrane ; Single-pass membrane protein Acetylation of Lys-61 is observed in liver mitochondria from fasted mice but not from fed mice. Belongs to the cytochrome c oxidase subunit 6c family. molecular_function cytochrome-c oxidase activity mitochondrion mitochondrial inner membrane biological_process membrane integral component of membrane electron transport chain hydrogen ion transmembrane transport uc007vmi.1 uc007vmi.2 
ENSMUST00000014476.6 Klra8 ENSMUST00000014476.6 killer cell lectin-like receptor, subfamily A, member 8, transcript variant 2 (from RefSeq NM_010650.3) ENSMUST00000014476.1 ENSMUST00000014476.2 ENSMUST00000014476.3 ENSMUST00000014476.4 ENSMUST00000014476.5 KLRA8_MOUSE Ly-49h Ly49-h Ly49H NM_010650 O78027 Q60682 uc009ehp.1 uc009ehp.2 uc009ehp.3 uc009ehp.4 uc009ehp.5 Receptor on natural killer (NK) cells for class I MHC. Homodimer; disulfide-linked. Interacts with the adapter protein TYROBP/DAP12; the interaction leads to natural killer cell activation (PubMed:9647200). Cell membrane ; Single-pass type II membrane protein Event=Alternative splicing; Named isoforms=2; Name=H1; IsoId=Q60682-1; Sequence=Displayed; Name=H2; IsoId=Q60682-2; Sequence=VSP_003071; protein binding plasma membrane cell adhesion response to virus cell surface membrane integral component of membrane carbohydrate binding uc009ehp.1 uc009ehp.2 uc009ehp.3 uc009ehp.4 uc009ehp.5 
ENSMUST00000014499.10 Anapc1 ENSMUST00000014499.10 anaphase promoting complex subunit 1 (from RefSeq NM_008569.2) A2ATQ4 APC1_MOUSE ENSMUST00000014499.1 ENSMUST00000014499.2 ENSMUST00000014499.3 ENSMUST00000014499.4 ENSMUST00000014499.5 ENSMUST00000014499.6 ENSMUST00000014499.7 ENSMUST00000014499.8 ENSMUST00000014499.9 Mcpr NM_008569 P53995 Q8BP33 Q8C772 Tsg24 uc008mgq.1 uc008mgq.2 uc008mgq.3 uc008mgq.4 Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (By similarity). Protein modification; protein ubiquitination. The mammalian APC/C is composed at least of 14 distinct subunits ANAPC1, ANAPC2, CDC27/APC3, ANAPC4, ANAPC5, CDC16/APC6, ANAPC7, CDC23/APC8, ANAPC10, ANAPC11, CDC26/APC12, ANAPC13, ANAPC15 and ANAPC16 that assemble into a complex of at least 19 chains with a combined molecular mass of around 1.2 MDa; APC/C interacts with FZR1 and FBXO5. Abundantly expressed in proliferating fibroblasts, juvenile testis, adult brain and epididymis. Uniformly expressed throughout interphase of the cell cycle. Phosphorylated. Phosphorylation on Ser-355 occurs specifically during mitosis (By similarity). Belongs to the APC1 family. protein binding nucleus anaphase-promoting complex cell cycle metaphase/anaphase transition of mitotic cell cycle protein ubiquitination anaphase-promoting complex-dependent catabolic process cell division protein K11-linked ubiquitination uc008mgq.1 uc008mgq.2 uc008mgq.3 uc008mgq.4 
ENSMUST00000014505.5 Mertk ENSMUST00000014505.5 MER proto-oncogene tyrosine kinase, transcript variant 2 (from RefSeq NM_008587.3) ENSMUST00000014505.1 ENSMUST00000014505.2 ENSMUST00000014505.3 ENSMUST00000014505.4 MERTK_MOUSE Mer NM_008587 Q60805 Q62194 uc008mgt.1 uc008mgt.2 uc008mgt.3 Receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to several ligands including LGALS3, TUB, TULP1 or GAS6. Regulates many physiological processes including cell survival, migration, differentiation, and phagocytosis of apoptotic cells (efferocytosis). Ligand binding at the cell surface induces autophosphorylation of MERTK on its intracellular domain that provides docking sites for downstream signaling molecules. Following activation by ligand, interacts with GRB2 or PLCG2 and induces phosphorylation of MAPK1, MAPK2, FAK/PTK2 or RAC1. MERTK signaling plays a role in various processes such as macrophage clearance of apoptotic cells, platelet aggregation, cytoskeleton reorganization and engulfment. Functions in the retinal pigment epithelium (RPE) as a regulator of rod outer segments fragments phagocytosis. Also plays an important role in inhibition of Toll-like receptors (TLRs)-mediated innate immune response by activating STAT1, which selectively induces production of suppressors of cytokine signaling SOCS1 and SOCS3. Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence=; Interacts (upon activation) with TNK2; stimulates TNK2 autophosphorylation. Interacts (via N-terminus) with extracellular ligands LGALS3, TUB, TULP1 and GAS6. Interacts with VAV1 in a phosphotyrosine-independent manner. Interacts with TIMD4; this interaction enhances TIMD4-mediated efferocytosis (By similarity). Cell membrane ; Single-pass type I membrane protein Expressed predominantly in the hematopoietic lineages: macrophages, NK cells, NKT cells, dendritic cells and platelets. Expressed during most, if not all, stages of embryological development beginning in the morula and blastocyst and progressing through the yolk sac and fetal liver stages. Autophosphorylated on Tyr-744, Tyr-748 and Tyr-749 in the activation loop allowing full activity (By similarity). Autophosphorylated on Tyr-867 leading to recruitment of downstream partners of the signaling cascade such as PLCG2. knockout mice are fertile, but male animals that lack all three receptors TYRO3, AXL and MERTK produce no mature sperm. Belongs to the protein kinase superfamily. Tyr protein kinase family. AXL/UFO subfamily. nucleotide binding photoreceptor outer segment natural killer cell differentiation negative regulation of cytokine production protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity ATP binding extracellular space cytoplasm integral component of plasma membrane protein phosphorylation phagocytosis transmembrane receptor protein tyrosine kinase signaling pathway spermatogenesis nervous system development membrane integral component of membrane rhabdomere kinase activity phosphorylation cell migration transferase activity peptidyl-tyrosine phosphorylation platelet activation secretion by cell substrate adhesion-dependent cell spreading receptor complex apoptotic cell clearance protein kinase B signaling positive regulation of phagocytosis negative regulation of lymphocyte activation retina development in camera-type eye vagina development neutrophil clearance negative regulation of leukocyte apoptotic process uc008mgt.1 uc008mgt.2 uc008mgt.3 
ENSMUST00000014545.11 Ldhc ENSMUST00000014545.11 lactate dehydrogenase C, transcript variant 1 (from RefSeq NM_013580.4) ENSMUST00000014545.1 ENSMUST00000014545.10 ENSMUST00000014545.2 ENSMUST00000014545.3 ENSMUST00000014545.4 ENSMUST00000014545.5 ENSMUST00000014545.6 ENSMUST00000014545.7 ENSMUST00000014545.8 ENSMUST00000014545.9 Ldh3 Ldhc NM_013580 Q548Z6 Q548Z6_MOUSE uc009gzp.1 uc009gzp.2 uc009gzp.3 Possible role in sperm motility. Reaction=(S)-lactate + NAD(+) = H(+) + NADH + pyruvate; Xref=Rhea:RHEA:23444, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378, ChEBI:CHEBI:16651, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.27; Evidence=; Fermentation; pyruvate fermentation to lactate; (S)-lactate from pyruvate: step 1/1. Homotetramer. Interacts with RABL2/RABL2A; binds preferentially to GTP-bound RABL2. Belongs to the LDH/MDH superfamily. LDH family. catalytic activity L-lactate dehydrogenase activity cytoplasm carbohydrate metabolic process oxidoreductase activity oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor carboxylic acid metabolic process oxidation-reduction process uc009gzp.1 uc009gzp.2 uc009gzp.3 
ENSMUST00000014546.15 Tsg101 ENSMUST00000014546.15 tumor susceptibility gene 101, transcript variant 1 (from RefSeq NM_021884.5) ENSMUST00000014546.1 ENSMUST00000014546.10 ENSMUST00000014546.11 ENSMUST00000014546.12 ENSMUST00000014546.13 ENSMUST00000014546.14 ENSMUST00000014546.2 ENSMUST00000014546.3 ENSMUST00000014546.4 ENSMUST00000014546.5 ENSMUST00000014546.6 ENSMUST00000014546.7 ENSMUST00000014546.8 ENSMUST00000014546.9 NM_021884 Q61187 TS101_MOUSE uc009gzq.1 uc009gzq.2 uc009gzq.3 Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs). Mediates the association between the ESCRT-0 and ESCRT-I complex. Required for completion of cytokinesis; the function requires CEP55. May be involved in cell growth and differentiation. Acts as a negative growth regulator. Required for the exosomal release of SDCBP, CD63 and syndecan (By similarity). It may also play a role in the extracellular release of microvesicles that differ from the exosomes (By similarity). Component of the ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, a VPS37 protein (VPS37A to -D) and MVB12A or MVB12B in a 1:1:1:1 stoichiometry. Interacts with VPS37A, VPS37B and VPS37C. Component of an ESCRT-I complex (endosomal sorting complex required for transport I) which consists of TSG101, VPS28, VPS37A and UBAP1 in a 1:1:1:1 stoichiometry. Interacts with DMAP1 (PubMed:10888872). Interacts with GMCL (PubMed:12927808). Interacts with ubiquitin, stathmin and AATF (By similarity). Interacts with HGS; the interaction mediates the association with the ESCRT-0 complex (PubMed:12802020). Interacts with GGA1 and GGA3. Interacts (via UEV domain) with PDCD6IP/AIP1. Interacts with VPS28, SNF8 and VPS36. Self-associates. Interacts with MVB12A; the association appears to be mediated by the TSG101-VPS37 binary subcomplex. Interacts with VPS37D. Interacts with LRSAM1. Interacts with CEP55; the interaction is required for cytokinesis (By similarity). Interacts with PDCD6. Interacts with LITAF (By similarity). Interacts with murine leukemia virus Gag polyprotein (via PSAP motif) (PubMed:15908698). Interacts with MGRN1 (PubMed:19703557). Interacts with ARRDC1; recruits TSG101 to the plasma membrane (By similarity). Cytoplasm Early endosome membrane ; Peripheral membrane protein ; Cytoplasmic side Late endosome membrane ; Peripheral membrane protein Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Midbody, Midbody ring Nucleus Note=Mainly cytoplasmic. Membrane- associated when active and soluble when inactive. Nuclear localization is cell cycle-dependent. Interaction with CEP55 is required for localization to the midbody during cytokinesis. Ubiquitous. Higher expression in brain and mammary gland. Lower expression in liver and tumoral tissues. Expressed at all stages of mammary gland development, but at lower rate at early and mid pregnancy. Expressed in 1-cell and 2-cell stage embryos. The UEV domain is required for the interaction of the complex with ubiquitin. The coiled coil domain may interact with stathmin. Monoubiquitinated at multiple sites by LRSAM1 and by MGRN1. Ubiquitination inactivates it, possibly by regulating its shuttling between an active membrane-bound protein and an inactive soluble form. Ubiquitination by MGRN1 requires the presence of UBE2D1. Belongs to the ubiquitin-conjugating enzyme family. UEV subfamily. ESCRT I complex regulation of cell growth transcription corepressor activity protein binding nucleus nucleolus cytoplasm endosome early endosome late endosome microtubule organizing center cytosol cytoskeleton plasma membrane cellular protein modification process protein monoubiquitination extracellular transport cell cycle cell cycle arrest negative regulation of epidermal growth factor-activated receptor activity negative regulation of cell proliferation endosome to lysosome transport endosome membrane protein transport membrane viral process cell differentiation keratinocyte differentiation ligand-dependent nuclear receptor transcription coactivator activity ubiquitin protein ligase binding early endosome membrane late endosome membrane regulation of growth negative regulation of epidermal growth factor receptor signaling pathway protein homodimerization activity ubiquitin binding ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway regulation of MAP kinase activity macromolecular complex binding negative regulation of transcription, DNA-templated viral budding virion binding calcium-dependent protein binding cell division extracellular exosome Flemming body positive regulation of viral release from host cell positive regulation of nucleic acid-templated transcription positive regulation of exosomal secretion regulation of extracellular exosome assembly positive regulation of viral budding via host ESCRT complex exosomal secretion positive regulation of ubiquitin-dependent endocytosis uc009gzq.1 uc009gzq.2 uc009gzq.3 
ENSMUST00000014562.14 Hps5 ENSMUST00000014562.14 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2, transcript variant 2 (from RefSeq NM_001005248.2) ENSMUST00000014562.1 ENSMUST00000014562.10 ENSMUST00000014562.11 ENSMUST00000014562.12 ENSMUST00000014562.13 ENSMUST00000014562.2 ENSMUST00000014562.3 ENSMUST00000014562.4 ENSMUST00000014562.5 ENSMUST00000014562.6 ENSMUST00000014562.7 ENSMUST00000014562.8 ENSMUST00000014562.9 G3X8S7 HPS5_MOUSE NM_001005248 P59438 Ru2 uc012fkw.1 uc012fkw.2 uc012fkw.3 May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins. Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Interacts with HPS6 and HPS3. May interact with all alpha-integrin chains that have an aromatic residue before the first lysine of the conserved KXGFFKR motif, including ITGA2, ITGA3, ITGA5 and ITGA6. Cytoplasm, cytosol Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P59438-1; Sequence=Displayed; Name=2; IsoId=P59438-2; Sequence=VSP_007036; Name=3; IsoId=P59438-3; Sequence=VSP_007037, VSP_007038; Widely expressed, with lowest expression in skeletal muscle and spleen. Note=Defects in Hps5 are the cause of Hermansky-Pudlak-like syndrome, a syndrome characterized by hypopigmented eyes and coat, melanosomes greatly reduced in number and morphologically bizarre, kidney proximal tubules secreting lysosomal enzymes into urine at greatly reduced rates, platelet dense granules deficient in critical components, such as serotonin and adenine nucleotides, leading to functionally abnormal platelets and prolonged bleeding times, and mast cell granules undergoing unregulated 'kiss-and-run' fusion at the plasma membrane. Belongs to the HPS5 family. protein binding cytoplasm cytosol organelle organization blood coagulation BLOC-2 complex pigmentation uc012fkw.1 uc012fkw.2 uc012fkw.3 
ENSMUST00000014578.7 Plg ENSMUST00000014578.7 plasminogen (from RefSeq NM_008877.3) ENSMUST00000014578.1 ENSMUST00000014578.2 ENSMUST00000014578.3 ENSMUST00000014578.4 ENSMUST00000014578.5 ENSMUST00000014578.6 NM_008877 P20918 PLMN_MOUSE Q8CIS2 Q91WJ5 uc008akt.1 uc008akt.2 uc008akt.3 uc008akt.4 Plasmin dissolves the fibrin of blood clots and acts as a proteolytic factor in a variety of other processes including embryonic development, tissue remodeling, tumor invasion, and inflammation. In ovulation, weakens the walls of the Graafian follicle. It activates the urokinase-type plasminogen activator, collagenases and several complement zymogens, such as C1 and C5. Cleavage of fibronectin and laminin leads to cell detachment and apoptosis. Also cleaves fibrin, thrombospondin and von Willebrand factor. Its role in tissue remodeling and tumor invasion may be modulated by CSPG4. Binds to cells (By similarity). Angiostatin is an angiogenesis inhibitor that blocks neovascularization and growth of experimental primary and metastatic tumors in vivo. Reaction=Preferential cleavage: Lys-|-Xaa > Arg-|-Xaa, higher selectivity than trypsin. Converts fibrin into soluble products.; EC=3.4.21.7; Converted into plasmin by plasminogen activators, both plasminogen and its activator being bound to fibrin. Cannot be activated with streptokinase. Interacts (both mature PLG and the angiostatin peptide) with AMOT and CSPG4. Interacts (via the Kringle domains) with HRG; the interaction tethers PLG to the cell surface and enhances its activation. Interacts (via Kringle 4 domain) with ADA; the interaction stimulates PLG activation when in complex with DPP4. Angiostatin: Interacts with ATP5F1A; the interaction inhibits most of the angiogenic effects of angiostatin. Secreted Note=Locates to the cell surface where it is proteolytically cleaved to produce the active plasmin. Interaction with HRG tethers it to the cell surface (By similarity). Kringle domains mediate interaction with CSPG4. In the presence of the inhibitor, the activation involves only cleavage after Arg-581, yielding two chains held together by two disulfide bonds. In the absence of the inhibitor, the activation involves additionally the removal of the activation peptide (By similarity). Plasmin is inactivated by alpha-2-antiplasmin immediately after dissociation from the clot. In the presence of the inhibitor, the activation involves only cleavage after Arg-581, resulting in 2 chains held together by 2 disulfide bonds. Without the inhibitor, the activation involves also removal of the activation peptide. Belongs to the peptidase S1 family. Plasminogen subfamily. endopeptidase activity serine-type endopeptidase activity receptor binding extracellular region extracellular space plasma membrane proteolysis blood coagulation hemostasis peptidase activity serine-type peptidase activity cell surface negative regulation of cell-substrate adhesion negative regulation of angiogenesis hydrolase activity extrinsic component of plasma membrane enzyme binding kinase binding protein domain specific binding extracellular matrix disassembly extrinsic component of external side of plasma membrane apolipoprotein binding tissue regeneration fibrinolysis intracellular membrane-bounded organelle positive regulation of blood vessel endothelial cell migration other organism cell membrane myoblast differentiation muscle cell cellular homeostasis tissue remodeling chaperone binding proteolysis involved in cellular protein catabolic process interaction with symbiont negative regulation of fibrinolysis positive regulation of fibrinolysis interaction with symbiont via secreted substance involved in symbiotic interaction trophoblast giant cell differentiation labyrinthine layer blood vessel development mononuclear cell migration glutamatergic synapse proteasome core complex binding protein antigen binding uc008akt.1 uc008akt.2 uc008akt.3 uc008akt.4 
ENSMUST00000014597.5 Blk ENSMUST00000014597.5 B lymphoid kinase (from RefSeq NM_007549.2) BLK_MOUSE ENSMUST00000014597.1 ENSMUST00000014597.2 ENSMUST00000014597.3 ENSMUST00000014597.4 NM_007549 P16277 Q8K2M8 uc007uhq.1 uc007uhq.2 uc007uhq.3 Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling. B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors (PubMed:2404338, PubMed:7690139, PubMed:7608542, PubMed:9636152, PubMed:14662906, PubMed:12563261). Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation (PubMed:2404338, PubMed:7690139, PubMed:7608542, PubMed:14662906, PubMed:12563261). Signaling through BLK plays an important role in transmitting signals through surface immunoglobulins and supports the pro-B to pre-B transition, as well as the signaling for growth arrest and apoptosis downstream of B-cell receptor (PubMed:2404338, PubMed:7690139, PubMed:7608542, PubMed:14662906, PubMed:12563261). Specifically binds and phosphorylates CD79A at 'Tyr-188'and 'Tyr-199', as well as CD79B at 'Tyr-196' and 'Tyr-207' (PubMed:7592958, PubMed:9177269). Phosphorylates also the immunoglobulin G receptor FCGR2 (By similarity). With FYN and LYN, plays an essential role in pre-B-cell receptor (pre-BCR)-mediated NF-kappa-B activation (PubMed:14662906, PubMed:12563261). Contributes also to BTK activation by indirectly stimulating BTK intramolecular autophosphorylation (PubMed:7565679). In pancreatic islets, acts as a modulator of beta- cells function through the up-regulation of PDX1 and NKX6-1 and consequent stimulation of insulin secretion in response to glucose (By similarity). Phosphorylates CGAS, promoting retention of CGAS in the cytosol (By similarity). Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.2; Antibody-mediated surface engagement of the B-cell antigen receptor (BCR) which results in the phosphorylation of BLK on tyrosine residues, stimulates the enzymatic activity. Interacts with CBL (via SH2 domain) (By similarity). Interacts with CD79A and CD79B (via SH2 domain). Cell membrane ; Lipid-anchor Note=Present and active in lipid rafts (By similarity). Membrane location is required for the phosphorylation of CD79A and CD79B. Expressed in immature Vgamma2 gamma-delta T-cells (at protein level) (PubMed:23562159). Expressed in the B-cell lineage (PubMed:2404338, PubMed:1537861). Expression increases during B-cell differentiation and is under the control of the B-cell specific transcription factors PAX5 and NF-kappa-B. Phosphorylated on tyrosine residues after antibody-mediated surface engagement of the B-cell antigen receptor (BCR). Ubiquitination of activated BLK by the UBE3A ubiquitin protein ligase leads to its degradation by the ubiquitin-proteasome pathway. Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. nucleotide binding protein kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity receptor binding protein binding ATP binding cytosol plasma membrane protein phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway membrane kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation cell differentiation extrinsic component of cytoplasmic side of plasma membrane positive regulation of insulin secretion peptidyl-tyrosine autophosphorylation regulation of cell proliferation B cell receptor signaling pathway uc007uhq.1 uc007uhq.2 uc007uhq.3 
ENSMUST00000014614.4 Rnf166 ENSMUST00000014614.4 ring finger protein 166, transcript variant 2 (from RefSeq NM_001368370.1) ENSMUST00000014614.1 ENSMUST00000014614.2 ENSMUST00000014614.3 NM_001368370 Q3U9F6 RN166_MOUSE uc009nsx.1 uc009nsx.2 E3 ubiquitin-protein ligase that promotes the ubiquitination of different substrates. In turn, participates in different biological processes including interferon production or autophagy. Plays a role in the activation of RNA virus-induced interferon-beta production by promoting the ubiquitination of TRAF3 and TRAF6. Also plays a role in the early recruitment of autophagy adapters to bacteria. Mediates 'Lys- 29' and 'Lys-33'-linked ubiquitination of SQSTM1 leading to xenophagic targeting of bacteria and inhibition of their replication. Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Protein modification; protein ubiquitination. Cytoplasm metal ion binding uc009nsx.1 uc009nsx.2 
ENSMUST00000014640.9 Ankrd28 ENSMUST00000014640.9 ankyrin repeat domain 28, transcript variant 2 (from RefSeq NR_175291.1) ANR28_MOUSE ENSMUST00000014640.1 ENSMUST00000014640.2 ENSMUST00000014640.3 ENSMUST00000014640.4 ENSMUST00000014640.5 ENSMUST00000014640.6 ENSMUST00000014640.7 ENSMUST00000014640.8 NR_175291 Q505D1 uc007sya.1 uc007sya.2 uc007sya.3 Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF-alpha. Selectively inhibits the phosphatase activity of PPP1C. Targets PPP1C to modulate HNRPK phosphorylation (By similarity). Protein phosphatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed by the catalytic subunit, a SAPS domain- containing subunit (PP6R) and an ankyrin repeat-domain containing regulatory subunit (ARS). Interacts with PPP1C and HNRPK. Interacts with PPP6C, PPP6R1 and PPP6R3 (By similarity). Nucleus, nucleoplasm. Note=Seems to be excluded from nucleoli. Widely expressed (at protein level). cellular_component nucleus nucleoplasm biological_process uc007sya.1 uc007sya.2 uc007sya.3 
ENSMUST00000014642.10 Ankrd52 ENSMUST00000014642.10 ankyrin repeat domain 52 (from RefSeq NM_172790.2) ANR52_MOUSE ENSMUST00000014642.1 ENSMUST00000014642.2 ENSMUST00000014642.3 ENSMUST00000014642.4 ENSMUST00000014642.5 ENSMUST00000014642.6 ENSMUST00000014642.7 ENSMUST00000014642.8 ENSMUST00000014642.9 NM_172790 Q148Z3 Q8BTI7 uc007hmm.1 uc007hmm.2 uc007hmm.3 Putative regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates. Protein phosphatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed by the catalytic subunit, a SAPS domain- containing subunit (PP6R) and an ankyrin repeat-domain containing regulatory subunit (ARS). Interacts with PPP6R1 (By similarity). molecular_function cellular_component biological_process uc007hmm.1 uc007hmm.2 uc007hmm.3 
ENSMUST00000014647.9 Pkd2l2 ENSMUST00000014647.9 polycystic kidney disease 2-like 2, transcript variant 1 (from RefSeq NM_016927.3) B2RS50 ENSMUST00000014647.1 ENSMUST00000014647.2 ENSMUST00000014647.3 ENSMUST00000014647.4 ENSMUST00000014647.5 ENSMUST00000014647.6 ENSMUST00000014647.7 ENSMUST00000014647.8 NM_016927 PK2L2_MOUSE Q9JLG4 uc008ekm.1 uc008ekm.2 uc008ekm.3 uc008ekm.4 uc008ekm.5 May function as a subunit of a cation channel and play a role in fertilization. Membrane ; Multi-pass membrane protein Expressed only in testis and heart. Belongs to the polycystin family. calcium channel activity calcium ion binding ion transport membrane integral component of membrane detection of mechanical stimulus calcium ion transmembrane transport uc008ekm.1 uc008ekm.2 uc008ekm.3 uc008ekm.4 uc008ekm.5 
ENSMUST00000014673.9 Tmbim7 ENSMUST00000014673.9 transmembrane BAX inhibitor motif containing 7, transcript variant 2 (from RefSeq NM_029141.4) 4930511M11Rik ENSMUST00000014673.1 ENSMUST00000014673.2 ENSMUST00000014673.3 ENSMUST00000014673.4 ENSMUST00000014673.5 ENSMUST00000014673.6 ENSMUST00000014673.7 ENSMUST00000014673.8 NM_029141 Q9D592 Q9D592_MOUSE Tmbim7 uc008whk.1 uc008whk.2 uc008whk.3 uc008whk.4 Membrane ; Multi- pass membrane protein Belongs to the BI1 family. molecular_function cellular_component biological_process membrane integral component of membrane uc008whk.1 uc008whk.2 uc008whk.3 uc008whk.4 
ENSMUST00000014684.6 U2af1 ENSMUST00000014684.6 U2 small nuclear ribonucleoprotein auxiliary factor (U2AF) 1, transcript variant 1 (from RefSeq NM_024187.4) ENSMUST00000014684.1 ENSMUST00000014684.2 ENSMUST00000014684.3 ENSMUST00000014684.4 ENSMUST00000014684.5 NM_024187 Q564E4 Q99LX2 Q9CZ98 Q9D883 U2AF1_MOUSE uc008bvo.1 uc008bvo.2 uc008bvo.3 uc008bvo.4 Plays a critical role in both constitutive and enhancer- dependent splicing by mediating protein-protein interactions and protein-RNA interactions required for accurate 3'-splice site selection. Recruits U2 snRNP to the branch point. Directly mediates interactions between U2AF2 and proteins bound to the enhancers and thus may function as a bridge between U2AF2 and the enhancer complex to recruit it to the adjacent intron (By similarity). Identified in the spliceosome C complex (By similarity). Heterodimer with U2AF2 (By similarity). Interacts (via RS domain) with PHF5A (via N-terminus) (PubMed:18758164). Interacts with ZRANB2 (By similarity). Interacts with SDE2 (By similarity). Interacts with SF3B1 (By similarity). Nucleus Nucleus speckle Expressed in primary spermatocytes and elongating spermatids (at protein level). The C-terminal SR-rich domain is required for interactions with SR proteins and the splicing regulators TRA and TRA2, and the N- terminal domain is required for formation of the U2AF1/U2AF2 heterodimer. Belongs to the splicing factor SR family. mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus spliceosomal complex mRNA processing RNA splicing nuclear speck pre-mRNA 3'-splice site binding metal ion binding RS domain binding U2AF uc008bvo.1 uc008bvo.2 uc008bvo.3 uc008bvo.4 
ENSMUST00000014686.3 Clec4f ENSMUST00000014686.3 C-type lectin domain family 4, member f (from RefSeq NM_016751.3) A0A0R4IZZ5 A0A0R4IZZ5_MOUSE Clec4f ENSMUST00000014686.1 ENSMUST00000014686.2 NM_016751 uc009cnv.1 uc009cnv.2 uc009cnv.3 Membrane ; Single- pass type II membrane protein membrane integral component of membrane carbohydrate binding uc009cnv.1 uc009cnv.2 uc009cnv.3 
ENSMUST00000014687.11 Klra17 ENSMUST00000014687.11 killer cell lectin-like receptor, subfamily A, member 17, transcript variant 1 (from RefSeq NM_001381962.1) ENSMUST00000014687.1 ENSMUST00000014687.10 ENSMUST00000014687.2 ENSMUST00000014687.3 ENSMUST00000014687.4 ENSMUST00000014687.5 ENSMUST00000014687.6 ENSMUST00000014687.7 ENSMUST00000014687.8 ENSMUST00000014687.9 Klra17 Ly-49Q NM_001381962 Q9JMA4 Q9JMA4_MOUSE klra17 uc009egt.1 uc009egt.2 uc009egt.3 uc009egt.4 membrane integral component of membrane carbohydrate binding MHC class I protein binding uc009egt.1 uc009egt.2 uc009egt.3 uc009egt.4 
ENSMUST00000014691.10 Wdfy2 ENSMUST00000014691.10 WD repeat and FYVE domain containing 2 (from RefSeq NM_175546.4) ENSMUST00000014691.1 ENSMUST00000014691.2 ENSMUST00000014691.3 ENSMUST00000014691.4 ENSMUST00000014691.5 ENSMUST00000014691.6 ENSMUST00000014691.7 ENSMUST00000014691.8 ENSMUST00000014691.9 NM_175546 Q3U9F3 Q8BUB4 WDFY2_MOUSE uc007ugy.1 uc007ugy.2 uc007ugy.3 uc007ugy.4 Acts in an adapter protein-like fashion to mediate the interaction between the kinase PRKCZ and its substrate VAMP2 and increases the PRKCZ-dependent phosphorylation of VAMP2 (By similarity). Positively regulates adipocyte differentiation, by facilitating the phosphorylation and thus inactivation of the anti-adipogenetic transcription factor FOXO1 by the kinase AKT1 (PubMed:18388859). Plays a role in endosomal control of AKT2 signaling; required for insulin- stimulated AKT2 phosphorylation and glucose uptake and insulin- stimulated phosphorylation of AKT2 substrates (PubMed:20189988). Participates in transferrin receptor endocytosis (By similarity). Homodimer (By similarity). Interacts (via WD repeats 1-3) with AKT1, AKT2, PRKCZ and PRKCI (PubMed:16792529, PubMed:20189988). Interacts with VAMP2 (PubMed:17313651). Forms a complex with VAMP2 and PRKCZ (PubMed:17313651). Interacts with FOXO1 (PubMed:18388859). Forms a complex with AKT1 and FOXO1 (PubMed:18388859). Endosome Early endosome Cytoplasm Note=Localizes to intracellular vesicles. Colocalizes with VAMP2 and PRKCZ in intracellular vesicles (By similarity). Colocalizes with AKT2 in early endosomes (PubMed:20189988). Highly expressed in the brain (at protein level). Transiently up-regulated during adipogenesis (at protein level). The FYVE-type zinc finger is essential for its vesicular localization. positive regulation of protein phosphorylation protein binding cytoplasm endosome early endosome vesicle positive regulation of fat cell differentiation metal ion binding uc007ugy.1 uc007ugy.2 uc007ugy.3 uc007ugy.4 
ENSMUST00000014694.11 Rbsn ENSMUST00000014694.11 rabenosyn, RAB effector (from RefSeq NM_030081.3) ENSMUST00000014694.1 ENSMUST00000014694.10 ENSMUST00000014694.2 ENSMUST00000014694.3 ENSMUST00000014694.4 ENSMUST00000014694.5 ENSMUST00000014694.6 ENSMUST00000014694.7 ENSMUST00000014694.8 ENSMUST00000014694.9 NM_030081 Q80Y56 Q8K0L6 Q9CTW0 RBNS5_MOUSE Rbsn Zfyve20 uc009cyv.1 uc009cyv.2 uc009cyv.3 Rab4/Rab5 effector protein acting in early endocytic membrane fusion and membrane trafficking of recycling endosomes. Required for endosome fusion either homotypically or with clathrin coated vesicles. Plays a role in the lysosomal trafficking of CTSD/cathepsin D from the Golgi to lysosomes. Also promotes the recycling of transferrin directly from early endosomes to the plasma membrane. Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate (PtdInsP3). Plays a role in the recycling of transferrin receptor to the plasma membrane (By similarity). Interacts with EHD1, RAB4A, RAB5A, RAB22A, RAB24 and VPS45. Binds simultaneously to RAB4A and RAB5A in vitro. Interacts with RAB4A and RAB5A that has been activated by GTP binding (By similarity). Cell membrane ; Lipid-anchor ; Cytoplasmic side Early endosome membrane ; Lipid-anchor Note=Enriched in endosomes that are in close proximity to clathrin- enriched regions at the cell surface (By similarity). nucleic acid binding endosome cytosol plasma membrane protein transport membrane Rab GTPase binding early endosome membrane early endosome to Golgi transport intracellular membrane-bounded organelle metal ion binding Golgi to lysosome transport regulation of Golgi organization uc009cyv.1 uc009cyv.2 uc009cyv.3 
ENSMUST00000014698.10 Dguok ENSMUST00000014698.10 deoxyguanosine kinase, transcript variant 5 (from RefSeq NR_177096.1) DGUOK_MOUSE Dgk ENSMUST00000014698.1 ENSMUST00000014698.2 ENSMUST00000014698.3 ENSMUST00000014698.4 ENSMUST00000014698.5 ENSMUST00000014698.6 ENSMUST00000014698.7 ENSMUST00000014698.8 ENSMUST00000014698.9 NR_177096 Q8CBU2 Q9QX60 Q9R0Y2 Q9WUT9 uc009cnn.1 uc009cnn.2 uc009cnn.3 uc009cnn.4 Phosphorylates deoxyguanosine and deoxyadenosine in the mitochondrial matrix, with the highest efficiency for deoxyguanosine (PubMed:10455141). In non-replicating cells, where cytosolic dNTP synthesis is down-regulated, mtDNA synthesis depends solely on DGUOK and TK2. Phosphorylates certain nucleoside analogs (PubMed:10455141). Widely used as target of antiviral and chemotherapeutic agents. Reaction=2'-deoxyguanosine + ATP = ADP + dGMP + H(+); Xref=Rhea:RHEA:19201, ChEBI:CHEBI:15378, ChEBI:CHEBI:17172, ChEBI:CHEBI:30616, ChEBI:CHEBI:57673, ChEBI:CHEBI:456216; EC=2.7.1.113; Evidence=; Reaction=2'-deoxyadenosine + ATP = ADP + dAMP + H(+); Xref=Rhea:RHEA:23452, ChEBI:CHEBI:15378, ChEBI:CHEBI:17256, ChEBI:CHEBI:30616, ChEBI:CHEBI:58245, ChEBI:CHEBI:456216; EC=2.7.1.76; Evidence=; Homodimer. [Isoform 1]: Mitochondrion [Isoform 2]: Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9QX60-1; Sequence=Displayed; Name=2; IsoId=Q9QX60-2; Sequence=VSP_003027; Spleen and thymus. Expressed at much lower levels in the brain and liver. Belongs to the DCK/DGK family. nucleotide binding deoxyguanosine kinase activity ATP binding cytoplasm mitochondrion cytosol nucleobase-containing compound metabolic process protein phosphorylation deoxyribonucleoside monophosphate biosynthetic process nucleotide biosynthetic process negative regulation of neuron projection development kinase activity phosphorylation transferase activity deoxynucleoside kinase activity nucleoside kinase activity dGTP metabolic process purine deoxyribonucleoside metabolic process uc009cnn.1 uc009cnn.2 uc009cnn.3 uc009cnn.4 
ENSMUST00000014743.10 Csf1 ENSMUST00000014743.10 colony stimulating factor 1 (macrophage), transcript variant 1 (from RefSeq NM_007778.4) CSF1_MOUSE Csfm ENSMUST00000014743.1 ENSMUST00000014743.2 ENSMUST00000014743.3 ENSMUST00000014743.4 ENSMUST00000014743.5 ENSMUST00000014743.6 ENSMUST00000014743.7 ENSMUST00000014743.8 ENSMUST00000014743.9 NM_007778 P07141 Q3U395 Q8R3C8 uc008qxk.1 uc008qxk.2 uc008qxk.3 Cytokine that plays an essential role in the regulation of survival, proliferation and differentiation of hematopoietic precursor cells, especially mononuclear phagocytes, such as macrophages and monocytes. Promotes the release of pro-inflammatory chemokines, and thereby plays an important role in innate immunity and in inflammatory processes. Plays an important role in the regulation of osteoclast proliferation and differentiation, the regulation of bone resorption, and is required for normal bone development. Required for normal male and female fertility. Promotes reorganization of the actin cytoskeleton, regulates formation of membrane ruffles, cell adhesion and cell migration. Plays a role in lipoprotein clearance. Homodimer or heterodimer; disulfide-linked (PubMed:19017797). Likely to exist in multiple forms: homodimer consisting of 2 identical 150-200 kDa proteoglycan subunits, heterodimer consisting of a 150-200 kDa proteoglycan subunit and a truncated 43 kDa subunit, and homodimer consisting of 2 identical 43 kDa subunits (By similarity). Interacts with CSF1R (PubMed:19017797). P07141; Q8C161: Aar2; NbExp=2; IntAct=EBI-777188, EBI-777252; P07141; Q60771: Cldn11; NbExp=2; IntAct=EBI-777188, EBI-309095; P07141; P07141: Csf1; NbExp=3; IntAct=EBI-777188, EBI-777188; P07141; P09581: Csf1r; NbExp=6; IntAct=EBI-777188, EBI-6305373; P07141; Q9JHU4: Dync1h1; NbExp=2; IntAct=EBI-777188, EBI-645061; P07141; P05480: Src; NbExp=2; IntAct=EBI-777188, EBI-298680; P07141; P03228: BARF1; Xeno; NbExp=8; IntAct=EBI-777188, EBI-16007073; Cell membrane ; Single-pass type I membrane protein [Processed macrophage colony-stimulating factor 1]: Secreted, extracellular space Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P07141-1; Sequence=Displayed; Name=2; IsoId=P07141-2; Sequence=VSP_001189; N-glycosylated. O-glycosylated; contains chondroitin sulfate. Note=A defect in Csf1 is the cause of osteopetrosis. Osteopetrotic mice (op/op) are severely deficient in mature macrophages and osteoclasts, display failed tooth eruption, and have a restricted capacity for bone remodeling. The sequence reported in PubMed:8357831 was thought to originate from rat, but was later shown (PubMed:12074592, PubMed:12379742) to be derived from mouse. ossification positive regulation of cell-matrix adhesion osteoclast proliferation immune system process response to ischemia developmental process involved in reproduction cytokine activity macrophage colony-stimulating factor receptor binding protein binding extracellular region extracellular space plasma membrane inflammatory response transmembrane receptor protein tyrosine kinase signaling pathway growth factor activity cell proliferation positive regulation of cell proliferation positive regulation of gene expression positive regulation of macrophage derived foam cell differentiation positive regulation of macrophage chemotaxis membrane integral component of membrane macrophage differentiation regulation of ossification osteoclast differentiation positive regulation of cell migration positive regulation of cellular protein metabolic process positive regulation of mononuclear cell proliferation macrophage colony-stimulating factor signaling pathway positive regulation of multicellular organism growth odontogenesis positive regulation of odontogenesis of dentin-containing tooth identical protein binding protein homodimerization activity innate immune response positive regulation of macrophage differentiation positive regulation of monocyte differentiation positive regulation of osteoclast differentiation positive regulation of protein kinase activity positive regulation of Ras protein signal transduction perinuclear region of cytoplasm homeostasis of number of cells within a tissue branching involved in mammary gland duct morphogenesis mammary gland fat development mammary duct terminal end bud growth microglial cell proliferation negative regulation of neuron death positive regulation of macrophage colony-stimulating factor signaling pathway positive regulation of microglial cell migration CSF1-CSF1R complex uc008qxk.1 uc008qxk.2 uc008qxk.3 
ENSMUST00000014747.3 Alx3 ENSMUST00000014747.3 aristaless-like homeobox 3 (from RefSeq NM_007441.3) Alx3 ENSMUST00000014747.1 ENSMUST00000014747.2 NM_007441 Q3UQX2 Q3UQX2_MOUSE uc008qxf.1 uc008qxf.2 uc008qxf.3 uc008qxf.4 This gene belongs to Group 1 of aristaless-like genes, which are characterized by the presence of an aristaless domain and a conserved paired-like homeodomain. The encoded protein acts as a transcriptional regulator. The protein plays a role in the development of craniofacial and appendicular skeleton and may have a role in pancreatic function. [provided by RefSeq, Apr 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: U96109.1, AK142019.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN01164131 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Nucleus DNA binding nucleus regulation of transcription, DNA-templated sequence-specific DNA binding embryonic cranial skeleton morphogenesis uc008qxf.1 uc008qxf.2 uc008qxf.3 uc008qxf.4 
ENSMUST00000014750.15 Slc25a11 ENSMUST00000014750.15 solute carrier family 25 (mitochondrial carrier oxoglutarate carrier), member 11 (from RefSeq NM_024211.3) ENSMUST00000014750.1 ENSMUST00000014750.10 ENSMUST00000014750.11 ENSMUST00000014750.12 ENSMUST00000014750.13 ENSMUST00000014750.14 ENSMUST00000014750.2 ENSMUST00000014750.3 ENSMUST00000014750.4 ENSMUST00000014750.5 ENSMUST00000014750.6 ENSMUST00000014750.7 ENSMUST00000014750.8 ENSMUST00000014750.9 M2OM_MOUSE NM_024211 Q9CR62 uc007jvr.1 uc007jvr.2 uc007jvr.3 uc007jvr.4 uc007jvr.5 Catalyzes the transport of 2-oxoglutarate (alpha- oxoglutarate) across the inner mitochondrial membrane in an electroneutral exchange for malate. Can also exchange 2-oxoglutarate for other dicarboxylic acids such as malonate, succinate, maleate and oxaloacetate, although with lower affinity. Contributes to several metabolic processes, including the malate-aspartate shuttle, the oxoglutarate/isocitrate shuttle, in gluconeogenesis from lactate, and in nitrogen metabolism (By similarity). Maintains mitochondrial fusion and fission events, and the organization and morphology of cristae (By similarity). Involved in the regulation of apoptosis (PubMed:21448454). Helps protect from cytotoxic-induced apoptosis by modulating glutathione levels in mitochondria (By similarity). Reaction=(S)-malate(in) + 2-oxoglutarate(out) = (S)-malate(out) + 2- oxoglutarate(in); Xref=Rhea:RHEA:71587, ChEBI:CHEBI:15589, ChEBI:CHEBI:16810; Evidence=; Reaction=2-oxoglutarate(out) + malonate(in) = 2-oxoglutarate(in) + malonate(out); Xref=Rhea:RHEA:71591, ChEBI:CHEBI:15792, ChEBI:CHEBI:16810; Evidence=; Reaction=2-oxoglutarate(out) + succinate(in) = 2-oxoglutarate(in) + succinate(out); Xref=Rhea:RHEA:71595, ChEBI:CHEBI:16810, ChEBI:CHEBI:30031; Evidence=; Reaction=2-oxoglutarate(out) + maleate(in) = 2-oxoglutarate(in) + maleate(out); Xref=Rhea:RHEA:71599, ChEBI:CHEBI:16810, ChEBI:CHEBI:30780; Evidence=; Reaction=2-oxoglutarate(out) + oxaloacetate(in) = 2-oxoglutarate(in) + oxaloacetate(out); Xref=Rhea:RHEA:71603, ChEBI:CHEBI:16452, ChEBI:CHEBI:16810; Evidence=; Mitochondrion inner membrane ; Multi-pass membrane protein Belongs to the mitochondrial carrier (TC 2.A.29) family. mitochondrion mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity oxoglutarate:malate antiporter activity alpha-ketoglutarate transport membrane integral component of membrane malate transmembrane transport uc007jvr.1 uc007jvr.2 uc007jvr.3 uc007jvr.4 uc007jvr.5 
ENSMUST00000014830.8 Ceacam16 ENSMUST00000014830.8 CEA cell adhesion molecule 16 (from RefSeq NM_001033419.2) B2RUD6 CEA16_MOUSE E9QA28 ENSMUST00000014830.1 ENSMUST00000014830.2 ENSMUST00000014830.3 ENSMUST00000014830.4 ENSMUST00000014830.5 ENSMUST00000014830.6 ENSMUST00000014830.7 NM_001033419 uc009fnm.1 uc009fnm.2 Required for proper hearing, plays a role in maintaining the integrity of the tectorial membrane. Homooligomer; can for homodimers and homotetramers (By similarity). Interacts with TECTA and TECTB (PubMed:25080593). Secreted Note=Localizes at the tip of cochlear outer hair cells and to the tectorial membrane. Expressed in cochlear outer hair cells (OHC). Abundantly expressed in cochleae from embryonic day 17 to postnatal day 42. Mutant mice show loss of striated-sheet matrix and Hensen's stripe, a prominent feature in the basal two-thirds of the tectorial membrane. They have enhanced spontaneous, stimulus-frequency, and transiently evoked otoacoustic emissions. Belongs to the immunoglobulin superfamily. CEA family. protein binding extracellular region extracellular space sensory perception of sound stereocilium tip identical protein binding uc009fnm.1 uc009fnm.2 
ENSMUST00000014848.11 Hoxa2 ENSMUST00000014848.11 homeobox A2 (from RefSeq NM_010451.3) ENSMUST00000014848.1 ENSMUST00000014848.10 ENSMUST00000014848.2 ENSMUST00000014848.3 ENSMUST00000014848.4 ENSMUST00000014848.5 ENSMUST00000014848.6 ENSMUST00000014848.7 ENSMUST00000014848.8 ENSMUST00000014848.9 HXA2_MOUSE Hox-1.11 Hoxa-2 NM_010451 P31245 Q149U3 Q920T8 uc009bxz.1 uc009bxz.2 uc009bxz.3 This gene is located in a cluster of developmentally and temporally regulated genes on chromosome 6 encoding proteins involved in pattern formation. These proteins contain a characteristic DNA-binding motif called a homeodomain and function in transcriptional regulation. There are four distinct clusters of related genes on chromosomes 2, 6, 11, and 15. The protein encoded by this gene is expressed in rhombomere 2 and is important for hindbrain formation in the early embryo. [provided by RefSeq, Mar 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M95599.1, BC117105.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Nucleus. Belongs to the Antp homeobox family. Proboscipedia subfamily. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding cell fate determination osteoblast development DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development segment specification pattern specification process motor neuron axon guidance anterior/posterior pattern specification dorsal/ventral pattern formation rhombomere 2 development rhombomere 3 development rhombomere 3 morphogenesis brain segmentation middle ear morphogenesis intracellular membrane-bounded organelle sequence-specific DNA binding cell fate commitment negative regulation of neuron differentiation negative regulation of osteoblast differentiation positive regulation of transcription from RNA polymerase II promoter embryonic viscerocranium morphogenesis embryonic skeletal system morphogenesis cellular response to retinoic acid uc009bxz.1 uc009bxz.2 uc009bxz.3 
ENSMUST00000014891.5 Ankrd53 ENSMUST00000014891.5 ankyrin repeat domain 53 (from RefSeq NM_029245.3) ANR53_MOUSE E9QN79 ENSMUST00000014891.1 ENSMUST00000014891.2 ENSMUST00000014891.3 ENSMUST00000014891.4 NM_029245 Q3V0J4 uc009cod.1 uc009cod.2 uc009cod.3 Required for normal progression through mitosis. Involved in chromosome alignment and cytokinesis via regulation of microtubules polymerization. Interacts with PSRC1; recruited by PSRC1 to the spindle during mitosis. Cytoplasm, cytoskeleton, spindle Cytoplasm, cytoskeleton, spindle pole Note=Localizes at the spindle around the centrosome at prophase and prometaphase and at the spindle poles at metaphase and anaphase. Phosphorylated during mitosis. spindle pole molecular_function cytoplasm spindle cytoskeleton cell cycle mitotic metaphase plate congression positive regulation of microtubule polymerization cell division regulation of mitotic spindle organization regulation of mitotic cytokinesis uc009cod.1 uc009cod.2 uc009cod.3 
ENSMUST00000014892.8 Tex261 ENSMUST00000014892.8 testis expressed gene 261 (from RefSeq NM_009357.2) ENSMUST00000014892.1 ENSMUST00000014892.2 ENSMUST00000014892.3 ENSMUST00000014892.4 ENSMUST00000014892.5 ENSMUST00000014892.6 ENSMUST00000014892.7 NM_009357 Q62302 TX261_MOUSE uc009coe.1 uc009coe.2 uc009coe.3 uc009coe.4 Membrane ; Multi-pass membrane protein Detected in testis. Not detectable in testis from 6 day old animals. Detectable in testis 15 days after birth. Highly expressed in testis 20 days after birth. Highly expressed in meiotic and post-meiotic germ cells. Belongs to the SVP26 family. ER to Golgi vesicle-mediated transport membrane integral component of membrane ER to Golgi transport vesicle integral component of Golgi membrane integral component of endoplasmic reticulum membrane positive regulation of apoptotic process COPII adaptor activity uc009coe.1 uc009coe.2 uc009coe.3 uc009coe.4 
ENSMUST00000014913.11 Psmb1 ENSMUST00000014913.11 proteasome (prosome, macropain) subunit, beta type 1 (from RefSeq NM_011185.3) ENSMUST00000014913.1 ENSMUST00000014913.10 ENSMUST00000014913.2 ENSMUST00000014913.3 ENSMUST00000014913.4 ENSMUST00000014913.5 ENSMUST00000014913.6 ENSMUST00000014913.7 ENSMUST00000014913.8 ENSMUST00000014913.9 NM_011185 Psmb1 Q6RI64 Q6RI64_MOUSE uc008aol.1 uc008aol.2 uc008aol.3 Component of the proteasome, a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity. Component of the proteasome complex. Cytoplasm Nucleus Belongs to the peptidase T1B family. proteasome complex endopeptidase activity threonine-type endopeptidase activity nucleus cytoplasm proteasome core complex proteolysis peptidase activity hydrolase activity proteolysis involved in cellular protein catabolic process uc008aol.1 uc008aol.2 uc008aol.3 
ENSMUST00000014917.8 Dll1 ENSMUST00000014917.8 delta like canonical Notch ligand 1, transcript variant 1 (from RefSeq NM_007865.3) DLL1_MOUSE ENSMUST00000014917.1 ENSMUST00000014917.2 ENSMUST00000014917.3 ENSMUST00000014917.4 ENSMUST00000014917.5 ENSMUST00000014917.6 ENSMUST00000014917.7 NM_007865 Q61483 Q6PFV7 uc008aoi.1 uc008aoi.2 uc008aoi.3 uc008aoi.4 Transmembrane ligand protein of NOTCH1, NOTCH2 and NOTCH3 receptors that binds the extracellular domain (ECD) of Notch receptor in a cis and trans fashion manner (PubMed:21985982, PubMed:10958687). Following transinteraction, ligand cells produce mechanical force that depends of a clathrin-mediated endocytosis, requiring ligand ubiquitination, EPN1 interaction, and actin polymerisation; these events promote Notch receptor extracellular domain (NECD) transendocytosis and triggers Notch signaling through induction of cleavage, hyperphosphorylation, and nuclear accumulation of the intracellular domain of Notch receptors (NICD) (PubMed:10958687, PubMed:18676613). Is required for embryonic development and maintenance of adult stem cells in many different tissues and immune systeme; the DLL1-induced Notch signaling is mediated through an intercellular communication that regulates cell lineage, cell specification, cell patterning and morphogenesis through effects on differentiation and proliferation (PubMed:17194759, PubMed:19562077, PubMed:18997111, PubMed:23695674, PubMed:16495313, PubMed:21238454, PubMed:22282195, PubMed:7671806, PubMed:17960184, PubMed:22529374, PubMed:19389377, PubMed:23699523, PubMed:19144989, PubMed:23688253, PubMed:23806616, PubMed:26114479, PubMed:22940113, PubMed:25220152, PubMed:20081190, PubMed:21572390, PubMed:22096075). Plays a role in brain development at different level, namely by regulating neuronal differentiation of neural precursor cells via cell-cell interaction, most likely through the lateral inhibitory system in an endogenous level dependent-manner (PubMed:7671806, PubMed:18997111). During neocortex development, Dll1- Notch signaling transmission is mediated by dynamic interactions between intermediate neurogenic progenitors and radial glia; the cell- cell interactions are mediated via dynamic and transient elongation processes, likely to reactivate/maintain Notch activity in neighboring progenitors, and coordinate progenitor cell division and differentiation across radial and zonal boundaries (PubMed:23699523). During cerebellar development, regulates Bergmann glial monolayer formation and its morphological maturation through a Notch signaling pathway (PubMed:23688253). At the retina and spinal cord level, regulates neurogenesis by preventing the premature differentiation of neural progenitors and also by maintaining progenitors in spinal cord through Notch signaling pathway (PubMed:19389377, PubMed:26114479). Also controls neurogenesis of the neural tube in a progenitor domain- specific fashion along the dorsoventral axis (PubMed:20081190). Maintains quiescence of neural stem cells and plays a role as a fate determinant that segregates asymmetrically to one daughter cell during neural stem cells mitosis, resulting in neuronal differentiation in Dll1-inheriting cell (PubMed:23695674). Plays a role in immune systeme development, namely the development of all T-cells and marginal zone (MZ) B cells (PubMed:15146182, PubMed:19217325). Blocks the differentiation of progenitor cells into the B-cell lineage while promoting the emergence of a population of cells with the characteristics of a T-cell/NK-cell precursor (By similarity). Upon MMP14 cleavage, negatively regulates Notch signaling in haematopoietic progenitor cells to specifically maintain normal B-cell development in bone marrow (PubMed:21572390). Also plays a role during muscle development. During early development, inhibits myoblasts differentiation from the medial dermomyotomal lip and later regulates progenitor cell differentiation (PubMed:17194759). Directly modulates cell adhesion and basal lamina formation in satellite cells through Notch signaling. Maintains myogenic progenitors pool by suppressing differentiation through down-regulation of MYOD1 and is required for satellite cell homing and PAX7 expression (PubMed:22940113). During craniofacial and trunk myogenesis suppresses differentiation of cranial mesoderm-derived and somite-derived muscle via MYOD1 regulation but in cranial mesoderm-derived progenitors, is neither required for satellite cell homing nor for PAX7 expression (PubMed:25220152). Also plays a role during pancreatic cell development. During type B pancreatic cell development, may be involved in the initiation of proximodistal patterning in the early pancreatic epithelium (PubMed:22529374). Stimulates multipotent pancreatic progenitor cells proliferation and pancreatic growth by maintaining HES1 expression and PTF1A protein levels (PubMed:22096075). During fetal stages of development, is required to maintain arterial identity and the responsiveness of arterial endothelial cells for VEGFA through regulation of KDR activation and NRP1 expression (PubMed:19144989). Controls sprouting angiogenesis and subsequent vertical branch formation through regulation on tip cell differentiation (PubMed:22282195). Negatively regulates goblet cell differentiation in intestine and controls secretory fat commitment through lateral inhibition in small intestine (PubMed:21238454, PubMed:21915337). Plays a role during inner ear development; negatively regulates auditory hair cell differentiation (PubMed:16495313). Plays a role during nephron development through Notch signaling pathway (PubMed:23806616). Regulates growth, blood pressure and energy homeostasis (PubMed:19562077). Homodimer (PubMed:12794186). Interacts with TJP1 (PubMed:24715457). Interacts with MMP14; inhibits DLL1-induced Notch signaling (PubMed:21572390). Interacts with MAGI1 (via PDZ domain); forms a complex with CTNNB1 and CDH2 and promotes recruitment to the adherens junction and stabilization on the cell surface (PubMed:15908431). Interacts with PSEN1; undergoes a presenilin- dependent gamma-secretase cleavage that releases a Dll1-intracellular form (PubMed:12794186). Interacts with MFAP5 (PubMed:15788413). Interacts with MIB1 (PubMed:21985982). Interacts with NEURL1B; leads to ubiquitination (PubMed:17003037, PubMed:19723503). Interacts with NEURL1 (PubMed:19723503). Interacts with SYNJ2BP; enhances DLL1 protein stability, and promotes Notch signaling in endothelial cells (By similarity). Interacts with MAGI1, MAGI2, MAGI3 and MPDZ (By similarity). Interacts (via ubiquitin) with EPN1 (via IUM domain); binding with NOTCH1 attached to neighboring cell, promotes ligand ubiquitination and EPN1 interaction, leading to NECD transendocytosis and Notch signaling. Interacts with NOTCH1 (By similarity). Q61483; Q9WVQ1: Magi2; NbExp=3; IntAct=EBI-297125, EBI-297151; Apical cell membrane ; Single-pass type I membrane protein Cell junction, adherens junction Membrane raft Note=Distributed around adherens junction in the apical endfeet through interactions with MAGI1. [Dll1-derived cell-associated form]: Cell membrane [Dll1-intracellular form]: Nucleus In the embryo, expressed in the paraxial mesoderm and nervous system. Expressed at high levels in adult heart and at lower levels, in adult lung. Highly expressed in satellite cells from masseter and tongue than in satellite cells from leg and extraocular muscle.? (PubMed:25220152). Expressed until 15 dpc. Expression then decreases and increases again in the adult. In differentiating somites, is expressed at low levels in cells emerging from the dorsomedial lip and subsequently throughout myotomes. In the limb buds, is found in myoblasts and myocytes but not in the progenitor cells (PubMed:17194759). Highly expressed in the endothelium and in the smooth muscle layer starting at 13.5 dpc in arterial vessels, but not in veins. At 12.5 dpc, there is no detectable expression in arteries or veins. This pattern persists until 18.5 dpc (PubMed:19144989). Strongly expressed in developing muscle of tongue, cheek, and in extraocular muscle at 11.5 dpc. Found at 18 dpc and P21 in head muscle (PubMed:25220152). Detected in a subset of cells in the ventricular zone (VZ), the intermediate zone (IZ) and the cortical plate (CP) of neocortex and in the ganglionic eminences at 13.5 dpc. At later stages, such as at 16.5 dpc, found in the VZ and IZ, but at very low levels in the CP of the neocortex (PubMed:18997111). Highly expressed in embryonic cells located in the ventricular zone (VZ) of the retinal neuroepithelium that form clusters; is first detected in cells located in the central retina. As the retina grows, expression spreads peripherally along the expanding neurogenic region, being always absent from the ciliary margin zone (CMZ) (PubMed:19389377). Induced by PTF1A in multipotent pancreatic progenitor cells (PubMed:22096075). Induced by CDX1 and CDX2 during somitogenesis and goblet cell differentiation (PubMed:22015720). Ubiquitinated by MIB (MIB1 or MIB2), leading to its endocytosis and subsequent degradation. Ubiquitinated; promotes recycling back to the plasma membrane and confers a strong affinity for NOTCH1 (PubMed:18676613). Multi-ubiquitination of Lys-613 by MIB1 promotes both cis and trans-interaction with NOTCH1, as well as activation of Notch signaling (PubMed:21985982). Ubiquitinated by NEURL1B (PubMed:17003037). Phosphorylated in a membrane association-dependent manner. Phosphorylation at Ser-696 requires the presence of Ser-693, whereas phosphorylation at Thr-638 and Ser-693 occurs independently of the other sites. Phosphorylation is required for full ligand activity in vitro and affects surface presentation, ectodomain shedding, and endocytosis. Cleaved by MMP14; negatively regulates DLL1-induced Notch signaling in HPCs, modulating B-lymphocyte differentiation in bone marrow (PubMed:21572390). Undergoes two consecutive processing events: a shedding event, partially by ADAM10, that generates a soluble extracellular form and an intracellular membrane-anchored form, followed by a gamma-secretase cleavage releasing an intracellular fragment (PubMed:12794186). O-fucosylated. Can be elongated to a disaccharide by MFNG. Heterozygous Dll1 mice mutants are lighter and smaller, with altered fat to lean ratio and have increased blood pressure and a slight bradycardia. The animals have reduced cholesterol and triglyceride levels in blood (PubMed:19562077). Heterozygous Dll1 mice mutants and hypomorphic Dll1 mice mutants survive until birth, despite significantly reduced Notch activity (PubMed:17194759). Conditional knockout in inner ear leads to an early and excessive production of hair cells and have vestibular defects (PubMed:16495313). Conditional knockout in a small proportion of neural precursor cells reduces neurogenesis, whereas conditional knockout in a large proportion promotes premature neurogenesis (PubMed:18997111). Hypomorph Dll1 pups mutant survive until birth but are smaller. Conditional knockout Dll1 mice mutant in epidermis, survive and have no gross abnormalities (PubMed:17960184). Hypomorph Dll1 mice mutant survive until birth and have severe skeletal muscle defects (PubMed:19144989). Heterozygous Dll1 mutant embryos show disrupted muscle growth (PubMed:25220152). Conditional knockout Dll1 mice mutant show disorganization of Bergmann fibers, ectopic localization of Bergmann glia in the molecular layer and a reduction in the number of Bergmann glia (PubMed:23688253). in utero embryonic development somitogenesis somite specification heart looping marginal zone B cell differentiation type B pancreatic cell development Notch binding calcium ion binding protein binding nucleus plasma membrane adherens junction cell communication Notch signaling pathway cell-cell signaling multicellular organism development determination of left/right symmetry compartment pattern specification nervous system development regulation of blood pressure positive regulation of cell proliferation negative regulation of cell proliferation animal organ morphogenesis auditory receptor cell fate commitment proximal/distal pattern formation positive regulation of gene expression astrocyte development regulation of somitogenesis membrane integral component of membrane apical plasma membrane spinal cord development cerebellar molecular layer formation cerebellar Purkinje cell layer structural organization cell junction cell differentiation regulation of cell adhesion negative regulation of epithelial cell differentiation Tat protein binding cytoplasmic vesicle negative regulation of interleukin-10 production negative regulation of glial cell apoptotic process organ growth regulation of growth inner ear morphogenesis odontogenesis of dentin-containing tooth auditory receptor cell differentiation membrane raft negative regulation of cell differentiation negative regulation of epidermal cell differentiation negative regulation of auditory receptor cell differentiation negative regulation of myeloid cell differentiation negative regulation of myoblast differentiation negative regulation of neuron differentiation negative regulation of Notch signaling pathway positive regulation of Notch signaling pathway positive regulation of endocytosis positive regulation of transcription from RNA polymerase II promoter lateral inhibition skeletal muscle tissue growth regulation of skeletal muscle tissue growth positive regulation of skeletal muscle tissue growth neuron fate specification inner ear development regulation of neurogenesis regulation of cell division retina development in camera-type eye retina morphogenesis in camera-type eye Notch signaling pathway involved in arterial endothelial cell fate commitment Notch signaling involved in heart development left/right axis specification nephron development proximal tubule development loop of Henle development clathrin-dependent endocytosis energy homeostasis endothelial tip cell fate specification scaffold protein binding neuronal stem cell population maintenance skin epidermis development regulation of vascular endothelial growth factor signaling pathway positive regulation of sprouting angiogenesis negative regulation of cardiac muscle cell differentiation uc008aoi.1 uc008aoi.2 uc008aoi.3 uc008aoi.4 
ENSMUST00000014920.8 Nol3 ENSMUST00000014920.8 nucleolar protein 3 (apoptosis repressor with CARD domain) (from RefSeq NM_030152.4) Arc ENSMUST00000014920.1 ENSMUST00000014920.2 ENSMUST00000014920.3 ENSMUST00000014920.4 ENSMUST00000014920.5 ENSMUST00000014920.6 ENSMUST00000014920.7 NM_030152 NOL3_MOUSE Q9D1X0 uc009ncd.1 uc009ncd.2 uc009ncd.3 Apoptosis repressor that blocks multiple modes of cell death. Inhibits extrinsic apoptotic pathways through two different ways. Firstly by interacting with FAS and FADD upon FAS activation blocking death-inducing signaling complex (DISC) assembly (By similarity). Secondly by interacting with CASP8 in a mitochondria localization- and phosphorylation-dependent manner, limiting the amount of soluble CASP8 available for DISC-mediated activation (By similarity). Inhibits intrinsic apoptotic pathway in response to a wide range of stresses, through its interaction with BAX resulting in BAX inactivation, preventing mitochondrial dysfunction and release of pro-apoptotic factors (PubMed:16505176) (PubMed:24312627). Inhibits calcium-mediated cell death by functioning as a cytosolic calcium buffer, dissociating its interaction with CASP8 and maintaining calcium homeostasis (By similarity). Negatively regulates oxidative stress-induced apoptosis by phosphorylation-dependent suppression of the mitochondria-mediated intrinsic pathway, by blocking CASP2 activation and BAX translocation (By similarity). Negatively regulates hypoxia-induced apoptosis in part by inhibiting the release of cytochrome c from mitochondria in a caspase-independent manner (By similarity). Also inhibits TNF-induced necrosis by preventing TNF-signaling pathway through TNFRSF1A interaction abrogating the recruitment of RIPK1 to complex I (PubMed:24440909). Finally through its role as apoptosis repressor, promotes vascular remodeling through inhibition of apoptosis and stimulation of proliferation, in response to hypoxia (PubMed:22082675). Inhibits too myoblast differentiation through caspase inhibition (By similarity). Oligomerizes (via CARD doamin) (By similarity). Interacts (via CARD domain) with CASP2; inhibits CASP2 activity in a phosphorylation- dependent manner (By similarity). Interacts with CASP8; decreases CASP8 activity in a mitochondria localization- and phosphorylation-dependent manner and this interaction is dissociated by calcium. Interacts with TFPT; translocates NOL3 into the nucleus and negatively regulated TFPT- induced cell death (By similarity). Interacts directly (via CARD domain) with FAS and FADD (via DED domain); inhibits death-inducing signaling complex (DISC) assembly by inhibiting the increase in FAS- FADD binding induced by FAS activation. Interacts (via CARD domain) with BAX (via a C-terminal 33 residues); inhibits BAX activation and translocation and consequently cytochrome c release from mitochondria. Interacts with PPM1G; may dephosphorylate NOL3 (By similarity). Interacts (via CARD domain) with BBC3 (via BH3 domain); preventing the association of BBC3 with BCL2 and resulting in activation of CASP8 (By similarity). Interacts (via CARD domain) with BAD(via BH3 domain); preventing the association of BAD with BCL2 (By similarity). Interacts directly (via CARD domain) with TNFRSF1A; inhibits TNF-signaling pathway. Q9D1X0; Q6PFR5: Tra2a; NbExp=4; IntAct=EBI-913097, EBI-913075; Cytoplasm tochondrion Sarcoplasmic reticulum Membrane ; Lipid-anchor Note=Phosphorylation at Thr-149 results in translocation to mitochondria. Colocalized with mitochondria in response to oxidative stress. CARD is critical for both extrinsic and intrinsic apoptotic pathways (By similarity). CARD domain mediates a protective effect against myocardial ischemia/reperfusion, oxidative stress and TNF- induced necrosis (PubMed:24440909). The C-terminal domain (amino acids 99 to 220) is involved in calcium binding and plays a protective role in calcium-mediated cell death (By similarity). Phosphorylation at Thr-149 is required for its antiapoptotic effect by blocking death-inducing signaling complex death-inducing signaling complex (DISC) activity through the control of interaction with CASP8. Phosphorylation at Thr-149 results in translocation to mitochondria and this translocation enables the binding to CASP8. Dephosphorylated at Thr-149 by calcineurin; doesn't inhibit the association between FADD and CASP8 and the consequent apoptosis. Polyubiquitinated by MDM2; promoting proteasomal-dependent degradation in response to apoptotic stimuli. Mice homozygous for the NOL3-null allele are born normally and externally indistinguishable from littermates of other genotypes. NOL3-null mice grew to adulthood without any abnormalities in their general health and appearance under resting conditions. Under biomechanical stress, NOL3-deficient mice develop accelerated cardiomyopathy which is characterized by reduced contractile function, cardiac enlargement, and myocardial fibrosis. Likewise, under ischemia/reperfusion injury of NOL3-deficient mice have a markedly increased myocardial infarct sizes (PubMed:16505176). Double homozygous knockout mice for NOL3 and SGCD have an enhanced myofiber death and subsequent dystrophic disease (PubMed:24312627). response to hypoxia blood vessel remodeling response to ischemia receptor binding death receptor binding calcium ion binding protein binding nucleolus cytoplasm mitochondrion mRNA splice site selection mRNA processing regulation of gene expression cardiac muscle cell apoptotic process negative regulation of striated muscle cell apoptotic process negative regulation of cardiac muscle cell apoptotic process negative regulation of tumor necrosis factor-mediated signaling pathway regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum negative regulation of muscle atrophy release of sequestered calcium ion into cytosol by sarcoplasmic reticulum response to injury involved in regulation of muscle adaptation membrane sarcoplasm sarcoplasmic reticulum kinase binding phosphatase binding death effector domain binding identical protein binding regulation of apoptotic process cysteine-type endopeptidase inhibitor activity involved in apoptotic process negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process myoblast differentiation metal ion binding smooth muscle cell proliferation protein oligomerization negative regulation of cytosolic calcium ion concentration negative regulation of mitochondrial calcium ion concentration negative regulation of necrotic cell death cellular response to hypoxia caspase binding negative regulation of release of cytochrome c from mitochondria intrinsic apoptotic signaling pathway inhibition of cysteine-type endopeptidase activity regulation of NIK/NF-kappaB signaling negative regulation of extrinsic apoptotic signaling pathway via death domain receptors negative regulation of mitochondrial membrane permeability involved in apoptotic process negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway negative regulation of death-inducing signaling complex assembly negative regulation of hydrogen peroxide-induced cell death negative regulation of protein targeting to mitochondrion negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway inhibition of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of extrinsic apoptotic signaling pathway negative regulation of intrinsic apoptotic signaling pathway uc009ncd.1 uc009ncd.2 uc009ncd.3 
ENSMUST00000014922.5 Fhod1 ENSMUST00000014922.5 formin homology 2 domain containing 1 (from RefSeq NM_177699.4) ENSMUST00000014922.1 ENSMUST00000014922.2 ENSMUST00000014922.3 ENSMUST00000014922.4 FHOD1_MOUSE Fhos1 NM_177699 Q6P9Q4 Q8BMK2 uc009nct.1 uc009nct.2 uc009nct.3 uc009nct.4 Required for the assembly of F-actin structures, such as stress fibers. Depends on the Rho-ROCK cascade for its activity. Contributes to the coordination of microtubules with actin fibers and plays a role in cell elongation. Acts synergistically with ROCK1 to promote SRC-dependent non-apoptotic plasma membrane blebbing (By similarity). Self-associates via the FH2 domain. Binds to F-actin via its N-terminus. Binds to the cytoplasmic domain of CD21 via its C-terminus (By similarity). Interacts with ROCK1 in a Src-dependent manner (By similarity). Cytoplasm Cytoplasm, cytosol Cytoplasm, cytoskeleton Cell projection, bleb Note=Predominantly cytoplasmic. Regulated by intramolecular binding to a C-terminal auto- inhibitory domain. Effector binding abolishes this interaction and activates the protein (By similarity). The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments (By similarity). Phosphorylated by ROCK1. Belongs to the formin homology family. stress fiber molecular_function actin binding nucleus cytoplasm cytosol cytoskeleton nuclear migration intercalated disc protein domain specific binding bleb identical protein binding cell projection protein self-association positive regulation of transcription from RNA polymerase II promoter regulation of stress fiber assembly positive regulation of stress fiber assembly establishment of centrosome localization uc009nct.1 uc009nct.2 uc009nct.3 uc009nct.4 
ENSMUST00000014957.10 Stc1 ENSMUST00000014957.10 stanniocalcin 1 (from RefSeq NM_009285.3) ENSMUST00000014957.1 ENSMUST00000014957.2 ENSMUST00000014957.3 ENSMUST00000014957.4 ENSMUST00000014957.5 ENSMUST00000014957.6 ENSMUST00000014957.7 ENSMUST00000014957.8 ENSMUST00000014957.9 NM_009285 Q3UYZ1 Q3UYZ1_MOUSE Stc1 uc007ulz.1 uc007ulz.2 uc007ulz.3 Homodimer; disulfide-linked. Belongs to the stanniocalcin family. ossification endothelial cell morphogenesis growth plate cartilage axis specification hormone activity extracellular region nucleus cytoplasm cellular calcium ion homeostasis signal transduction embryo implantation negative regulation of endothelial cell migration response to organic cyclic compound apical plasma membrane negative regulation of cell migration response to vitamin D chondrocyte proliferation regulation of anion transport decidualization negative regulation of calcium ion transport bone development cellular response to cAMP cellular response to glucocorticoid stimulus cellular response to hypoxia regulation of cardiac muscle cell contraction positive regulation of calcium ion import negative regulation of renal phosphate excretion uc007ulz.1 uc007ulz.2 uc007ulz.3 
ENSMUST00000014981.8 Matcap1 ENSMUST00000014981.8 microtubule associated tyrosine carboxypeptidase 1, transcript variant 2 (from RefSeq NM_001166394.1) ENSMUST00000014981.1 ENSMUST00000014981.2 ENSMUST00000014981.3 ENSMUST00000014981.4 ENSMUST00000014981.5 ENSMUST00000014981.6 ENSMUST00000014981.7 MACAP_MOUSE Matcap NM_001166394 Q810A5 Q9D4J6 uc009ncg.1 uc009ncg.2 uc009ncg.3 uc009ncg.4 Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function (PubMed:35482892). Also able to remove the C- terminal phenylalanine residue of alpha-tubulin TUBA8. Recognizes adjacent tubulin dimers along the same protofilament (By similarity). Reaction=C-terminal L-alpha-aminoacyl-L-glutamyl-L-glutamyl-L-tyrosyl- [tubulin] + H2O = C-terminal L-alpha-aminoacyl-L-glutamyl-L-glutamyl- [tubulin] + L-tyrosine; Xref=Rhea:RHEA:57444, Rhea:RHEA-COMP:16434, Rhea:RHEA-COMP:16435, ChEBI:CHEBI:15377, ChEBI:CHEBI:58315, ChEBI:CHEBI:149554, ChEBI:CHEBI:149555; EC=3.4.17.17; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:57445; Evidence=; Reaction=C-terminal L-alpha-aminoacyl-L-glutamyl-L-glutamyl-L- phenylalanyl-[tubulin] + H2O = C-terminal L-alpha-aminoacyl-L- glutamyl-L-glutamyl-[tubulin] + L-phenylalanine; Xref=Rhea:RHEA:72663, Rhea:RHEA-COMP:16435, Rhea:RHEA-COMP:18133, ChEBI:CHEBI:15377, ChEBI:CHEBI:58095, ChEBI:CHEBI:149555, ChEBI:CHEBI:192362; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:72664; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Cytoplasm, cytoskeleton Note=Associates with microtubules. Metalloprotease with an atypical HExxxH zinc-binding motif instead of HExxH, which interrupts the active site-containing helix without affecting the integrity of the catalytic site arrangement. The N-terminal disordered region enhances its anchoring on microtubules, while dampening processivity on the polymerized substrate. No visible phenotype: mice are viable and fertile and display no gross alterations (PubMed:35482892). Mice lacking both Matcap and Svbp are viable but show a reduction in brain volume: microcephaly is associated with proliferative defects during neurogenesis and abnormal behavior (PubMed:35482892). Cells lacking both Matcap and Svbp show abolished tubulin detyrosination (PubMed:35482892). Belongs to the peptidase MATCAP family. molecular_function cellular_component biological_process uc009ncg.1 uc009ncg.2 uc009ncg.3 uc009ncg.4 
ENSMUST00000014990.13 Tppp3 ENSMUST00000014990.13 tubulin polymerization-promoting protein family member 3 (from RefSeq NM_026481.3) ENSMUST00000014990.1 ENSMUST00000014990.10 ENSMUST00000014990.11 ENSMUST00000014990.12 ENSMUST00000014990.2 ENSMUST00000014990.3 ENSMUST00000014990.4 ENSMUST00000014990.5 ENSMUST00000014990.6 ENSMUST00000014990.7 ENSMUST00000014990.8 ENSMUST00000014990.9 NM_026481 Q3TUZ0 Q9CRB6 TPPP3_MOUSE Tppp3 uc009ndc.1 uc009ndc.2 uc009ndc.3 uc009ndc.4 Regulator of microtubule dynamic that has microtubule bundling activity (By similarity). Required for embryo implantation; possibly by regulating beta-catenin (PubMed:29901777). Also required for decidualization via regulation of beta-catenin (PubMed:30667362). Cytoplasm Cytoplasm, cytoskeleton Expressed in the connective tissues of differentiating tendons and synovial joints (PubMed:19235716). Expressed in the uterus during window of implantation and early pregnancy (at protein level) (PubMed:29901777). Up-regulated by estradiol. Belongs to the TPPP family. microtubule bundle formation cytoplasm cytoskeleton microtubule tubulin binding positive regulation of protein polymerization microtubule polymerization perinuclear region of cytoplasm microtubule bundle uc009ndc.1 uc009ndc.2 uc009ndc.3 uc009ndc.4 
ENSMUST00000015000.12 Tmem208 ENSMUST00000015000.12 transmembrane protein 208, transcript variant 3 (from RefSeq NM_025486.3) ENSMUST00000015000.1 ENSMUST00000015000.10 ENSMUST00000015000.11 ENSMUST00000015000.2 ENSMUST00000015000.3 ENSMUST00000015000.4 ENSMUST00000015000.5 ENSMUST00000015000.6 ENSMUST00000015000.7 ENSMUST00000015000.8 ENSMUST00000015000.9 NM_025486 Q3V2H5 Q8R1F8 Q9CR96 TM208_MOUSE uc009ncs.1 uc009ncs.2 uc009ncs.3 uc009ncs.4 May function as a negative regulator of endoplasmic reticulum-stress induced autophagy. Endoplasmic reticulum membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CR96-1; Sequence=Displayed; Name=2; IsoId=Q9CR96-2; Sequence=VSP_032506; Belongs to the TMEM208 family. molecular_function vacuole endoplasmic reticulum endoplasmic reticulum membrane vacuolar protein processing autophagy membrane integral component of membrane uc009ncs.1 uc009ncs.2 uc009ncs.3 uc009ncs.4 
ENSMUST00000015003.10 E2f4 ENSMUST00000015003.10 E2F transcription factor 4 (from RefSeq NM_148952.1) E2F4_MOUSE ENSMUST00000015003.1 ENSMUST00000015003.2 ENSMUST00000015003.3 ENSMUST00000015003.4 ENSMUST00000015003.5 ENSMUST00000015003.6 ENSMUST00000015003.7 ENSMUST00000015003.8 ENSMUST00000015003.9 NM_148952 Q8R0K9 Q8R2X6 uc009ncl.1 uc009ncl.2 Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F4 binds with high affinity to RBL1 and RBL2. In some instances can also bind RB1. Specifically required for multiciliate cell differentiation: together with MCIDAS and E2F5, binds and activate genes required for centriole biogenesis. Component of the DRTF1/E2F transcription factor complex. Binds cooperatively with TFDP1/Dp-1 to E2F sites. The E2F4/TFDP1 dimer interacts preferentially with pocket protein RBL1, which inhibits the E2F transactivation domain. Lower affinity interaction has been found with retinoblastoma protein RB1. Interacts with TRRAP, which probably mediates its interaction with histone acetyltransferase complexes, leading to transcription activation. Interacts with HCFC1. Component of the DREAM complex (also named LINC complex) at least composed of E2F4, E2F5, LIN9, LIN37, LIN52, LIN54, MYBL1, MYBL2, RBL1, RBL2, RBBP4, TFDP1 and TFDP2. The complex exists in quiescent cells where it represses cell cycle-dependent genes. It dissociates in S phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL2. Interacts with PML. Interacts with CEBPA (when phosphorylated) (By similarity). Nucleus Differentially phosphorylated in vivo. Postnatal lethality, probably due to the absence of ciliated cells from the entire airway epithelium and the epithelium of the submucosal glands in the paranasal sinuses. In the nasal epithelium, ciliated cells are replaced by columnar secretory cells that produce mucin-like substances. In the proximal lung, reduction in club cells is also observed. The combination of no ciliated cells and excess mucous cells leads for the chronic rhinitis and increased susceptibility to opportunistic infections that cause lethality. Belongs to the E2F/DP family. regulation of transcription involved in G1/S transition of mitotic cell cycle negative regulation of transcription from RNA polymerase II promoter mitotic cell cycle nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding epithelial cell development DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex cytoplasm regulation of transcription, DNA-templated cell volume homeostasis cell cycle blood circulation transcription factor binding regulation of cell size animal organ morphogenesis protein domain specific binding cell projection organization regulation of cell proliferation sequence-specific DNA binding motile cilium assembly positive regulation of transcription from RNA polymerase II promoter protein dimerization activity regulation of cell cycle cilium assembly RNA polymerase II transcription factor complex centriole assembly multi-ciliated epithelial cell differentiation promoter-specific chromatin binding uc009ncl.1 uc009ncl.2 
ENSMUST00000015011.10 Surf4 ENSMUST00000015011.10 surfeit gene 4, transcript variant 5 (from RefSeq NR_185258.1) ENSMUST00000015011.1 ENSMUST00000015011.2 ENSMUST00000015011.3 ENSMUST00000015011.4 ENSMUST00000015011.5 ENSMUST00000015011.6 ENSMUST00000015011.7 ENSMUST00000015011.8 ENSMUST00000015011.9 NR_185258 Q64310 SURF4_MOUSE Surf-4 Surf4 uc008iwl.1 uc008iwl.2 uc008iwl.3 uc008iwl.4 Endoplasmic reticulum cargo receptor that mediates the export of lipoproteins by recruiting cargos into COPII vesicles to facilitate their secretion. Acts as a cargo receptor for lipoproteins bearing both APOB and APOA1, thereby regulating lipoprotein delivery and the maintenance of lipid homeostasis. Synergizes with the GTPase SAR1B to mediate transport of circulating lipoproteins. Promotes the secretion of PCSK9. Also mediates the efficient secretion of erythropoietin (EPO). May also play a role in the maintenance of the architecture of the endoplasmic reticulum-Golgi intermediate compartment and of the Golgi. Found in a complex composed at least of SURF4, TMED2 and TMED10 (By similarity). May interact with LMAN1 (By similarity). Interacts with ZFYVE27 and with KIF5A in a ZFYVE27-dependent manner (PubMed:21976701). Interacts with STING1 (By similarity). Interacts with SAR1B (By similarity). Interacts with TMEM41B (By similarity). Endoplasmic reticulum membrane ; Multi-pass membrane protein Endoplasmic reticulum-Golgi intermediate compartment membrane ; Multi-pass membrane protein Golgi apparatus membrane ; Multi-pass membrane protein Note=Cycles between the endoplasmic reticulum and the Golgi. The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins. Embryonic lethality between 3.5 and 9.5 dpc (PubMed:31978056). Conditional deletion in the liver depletes plasma lipids and protects mice from atherosclerosis (PubMed:33186557). Belongs to the SURF4 family. Golgi membrane protein binding endoplasmic reticulum endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus Golgi organization positive regulation of organelle organization membrane integral component of membrane endoplasmic reticulum-Golgi intermediate compartment membrane uc008iwl.1 uc008iwl.2 uc008iwl.3 uc008iwl.4 
ENSMUST00000015017.8 Surf2 ENSMUST00000015017.8 surfeit gene 2, transcript variant 12 (from RefSeq NR_185256.1) ENSMUST00000015017.1 ENSMUST00000015017.2 ENSMUST00000015017.3 ENSMUST00000015017.4 ENSMUST00000015017.5 ENSMUST00000015017.6 ENSMUST00000015017.7 NR_185256 Q4VAF7 Q4VAF7_MOUSE Surf2 uc008iwj.1 uc008iwj.2 uc008iwj.3 uc008iwj.4 nucleus nucleolus plasma membrane nuclear speck uc008iwj.1 uc008iwj.2 uc008iwj.3 uc008iwj.4 
ENSMUST00000015049.5 Dnajb9 ENSMUST00000015049.5 DnaJ heat shock protein family (Hsp40) member B9 (from RefSeq NM_013760.4) DNJB9_MOUSE Dnajb9 ENSMUST00000015049.1 ENSMUST00000015049.2 ENSMUST00000015049.3 ENSMUST00000015049.4 NM_013760 Q5D0C3 Q9DAW1 Q9QYI6 uc007nlo.1 uc007nlo.2 uc007nlo.3 Co-chaperone for Hsp70 protein HSPA5/BiP that acts as a key repressor of the ERN1/IRE1-mediated unfolded protein response (UPR) (By similarity). J domain-containing co-chaperones stimulate the ATPase activity of Hsp70 proteins and are required for efficient substrate recognition by Hsp70 proteins (PubMed:11836248). In the unstressed endoplasmic reticulum, interacts with the luminal region of ERN1/IRE1 and selectively recruits HSPA5/BiP: HSPA5/BiP disrupts the dimerization of the active ERN1/IRE1 luminal region, thereby inactivating ERN1/IRE1 (By similarity). Also involved in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins (PubMed:22267725). Required for survival of B-cell progenitors and normal antibody production (PubMed:25222125). Interacts with HSPA5/BiP; interaction is direct (PubMed:11836248). Interacts with ERN1/IRE1 (via the luminal region) (By similarity). Interacts with DERL1 (PubMed:22267725). Endoplasmic reticulum lumen The J domain stimulates the ATPase activity of HSPA5/BiP, while the divergent targeting domain is required for efficient substrate recognition by HSPA5/BiP. The divergent targeting domain specifically recognizes and binds to aggregation-prone sequences. Not N-glycosylated. Perinatal death in approximately half of knockout mice (PubMed:24336520). Death is caused by fetal growth restriction, reduced hepatic glycogen stores and hypoglycemia (PubMed:24336520). Surviving adult mice display constitutive endoplasmic reticulum stress in multiple cells and tissues (PubMed:24336520). Elevated endoplasmic reticulum stress in pancreatic beta cells is associated with beta cell loss, hypoinsulinemia and glucose intolerance (PubMed:24336520) Conditional knockout mice lacking Dnajb9 in bone marrow show impaired hematopoiesis: the number of myeloid cells is increased, while the number of erythroid and B lymphoid cells is reduced (PubMed:25222125). B-cell defects cause decreased survival of B-cell precursors, including large and small pre-B, and immature B-cells (PubMed:25222125). Was initially thought to be an integral membrane protein (PubMed:11836248). However, it was later shown that it is a soluble luminal protein localized in the endoplasmic reticulum lumen. immunoglobulin production protein binding nucleolus cytoplasm endoplasmic reticulum endoplasmic reticulum lumen response to unfolded protein B cell differentiation ER-associated ubiquitin-dependent protein catabolic process Hsp70 protein binding response to endoplasmic reticulum stress chaperone binding misfolded protein binding negative regulation of IRE1-mediated unfolded protein response uc007nlo.1 uc007nlo.2 uc007nlo.3 
ENSMUST00000015100.15 Ppp1cb ENSMUST00000015100.15 protein phosphatase 1 catalytic subunit beta (from RefSeq NM_172707.3) ENSMUST00000015100.1 ENSMUST00000015100.10 ENSMUST00000015100.11 ENSMUST00000015100.12 ENSMUST00000015100.13 ENSMUST00000015100.14 ENSMUST00000015100.2 ENSMUST00000015100.3 ENSMUST00000015100.4 ENSMUST00000015100.5 ENSMUST00000015100.6 ENSMUST00000015100.7 ENSMUST00000015100.8 ENSMUST00000015100.9 NM_172707 P37140 P62141 PP1B_MOUSE Q3TBE5 Q3TL90 Q542E7 Q8C285 Q9DBY2 uc008wzq.1 uc008wzq.2 uc008wzq.3 uc008wzq.4 Protein phosphatase that associates with over 200 regulatory proteins to form highly specific holoenzymes which dephosphorylate hundreds of biological targets. Protein phosphatase (PP1) is essential for cell division, it participates in the regulation of glycogen metabolism, muscle contractility and protein synthesis. Involved in regulation of ionic conductances and long-term synaptic plasticity. Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. In balance with CSNK1D and CSNK1E, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. May dephosphorylate CSNK1D and CSNK1E. Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16; Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA- COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16; Reaction=H2O + O-phospho-L-seryl-[myosin light chain] = L-seryl-[myosin light chain] + phosphate; Xref=Rhea:RHEA:12849, Rhea:RHEA-COMP:13684, Rhea:RHEA-COMP:13685, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.53; Reaction=H2O + O-phospho-L-threonyl-[myosin light chain] = L-threonyl- [myosin light chain] + phosphate; Xref=Rhea:RHEA:53988, Rhea:RHEA- COMP:13686, Rhea:RHEA-COMP:13687, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.53; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 manganese ions per subunit. ; Inhibited by the toxins okadaic acid, tautomycin and microcystin Leu-Arg. The phosphatase activity of the PPP1R15A-PP1 complex toward EIF2S1 is specifically inhibited by Salubrinal, a drug that protects cells from endoplasmic reticulum stress (By similarity). PP1 comprises a catalytic subunit, PPP1CA, PPP1CB or PPP1CC, which is folded into its native form by inhibitor 2 and glycogen synthetase kinase 3, and then complexed to one or several targeting or regulatory subunits. The targeting or regulatory subunits determine the substrate specificity of PP1. PPP1R12A, PPP1R12B and PPP1R12C mediate binding to myosin. PPP1R3A (in skeletal muscle), PPP1R3B (in liver), PPP1R3C, PPP1R3D and PPP1R3F (in brain) mediate binding to glycogen. Interacts with PPP1R7 and PPP1R12C. Interacts with PPP1R12A and NUAK1; the interaction is direct. Interacts with TRIM28; the interaction is weak (By similarity). Interacts with PPP1R15A; the interaction mediates binding to EIF2S1. Interacts with PPP1R16B. Component of the PTW/PP1 phosphatase complex, composed of PPP1R10/PNUTS, TOX4, WDR82, and PPP1CA or PPP1CB or PPP1CC. Interacts with PPP1R8. Interacts with TRIM28; the interaction is weak (By similarity). Part of a complex containing PPP1R15B, PP1 and NCK1/2. Interacts with PPP1R15B; the interaction mediates binding to EIF2S1. Interacts with FOXP3 (By similarity). Interacts with RRP1B (By similarity). Interacts with SERPINE1. Interacts with LZTR1 (By similarity). Cytoplasm Nucleus Nucleus, nucleoplasm Nucleus, nucleolus Note=Highly mobile in cells and can be relocalized through interaction with targeting subunits. In the presence of PPP1R8 relocalizes from the nucleus to nuclear speckles. Belongs to the PPP phosphatase family. PP-1 subfamily. Name=Protein Spotlight; Note=The things we forget - Issue 32 of March 2003; URL="https://web.expasy.org/spotlight/back_issues/032"; protein phosphatase type 1 complex nuclear chromosome, telomeric region phosphoprotein phosphatase activity protein serine/threonine phosphatase activity protein binding nucleus nucleoplasm nucleolus cytoplasm cytosol plasma membrane carbohydrate metabolic process glycogen metabolic process regulation of glycogen biosynthetic process regulation of glycogen catabolic process protein dephosphorylation cell cycle hydrolase activity phosphatase activity myosin phosphatase activity protein kinase binding regulation of cell adhesion circadian regulation of gene expression glycogen granule regulation of circadian rhythm entrainment of circadian clock by photoperiod metal ion binding rhythmic process myosin-light-chain-phosphatase activity cell division PTW/PP1 phosphatase complex uc008wzq.1 uc008wzq.2 uc008wzq.3 uc008wzq.4 
ENSMUST00000015124.15 Tsen15 ENSMUST00000015124.15 tRNA splicing endonuclease subunit 15 (from RefSeq NM_025677.3) ENSMUST00000015124.1 ENSMUST00000015124.10 ENSMUST00000015124.11 ENSMUST00000015124.12 ENSMUST00000015124.13 ENSMUST00000015124.14 ENSMUST00000015124.2 ENSMUST00000015124.3 ENSMUST00000015124.4 ENSMUST00000015124.5 ENSMUST00000015124.6 ENSMUST00000015124.7 ENSMUST00000015124.8 ENSMUST00000015124.9 G3X8S8 G3X8S8_MOUSE NM_025677 Tsen15 uc007czf.1 uc007czf.2 uc007czf.3 uc007czf.4 Belongs to the SEN15 family. tRNA-intron endonuclease activity nucleic acid binding nuclease activity tRNA splicing, via endonucleolytic cleavage and ligation nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic uc007czf.1 uc007czf.2 uc007czf.3 uc007czf.4 
ENSMUST00000015137.10 Limk1 ENSMUST00000015137.10 LIM domain kinase 1, transcript variant 1 (from RefSeq NM_010717.3) ENSMUST00000015137.1 ENSMUST00000015137.2 ENSMUST00000015137.3 ENSMUST00000015137.4 ENSMUST00000015137.5 ENSMUST00000015137.6 ENSMUST00000015137.7 ENSMUST00000015137.8 ENSMUST00000015137.9 LIMK1_MOUSE Limk NM_010717 P53668 uc008zwt.1 uc008zwt.2 uc008zwt.3 This gene encodes a member of the LIM kinase family of proteins. This protein is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein also stimulates axon growth and may play a role in brain development. Homozygous knockout mice for this gene exhibit reduced bone mass, abnormal neuronal morphology and altered synaptic function. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. Serine/threonine-protein kinase that plays an essential role in the regulation of actin filament dynamics (PubMed:15056216, PubMed:16204183). Acts downstream of several Rho family GTPase signal transduction pathways (PubMed:15056216). Activated by upstream kinases including ROCK1, PAK1 and PAK4, which phosphorylate LIMK1 on a threonine residue located in its activation loop. LIMK1 subsequently phosphorylates and inactivates the actin binding/depolymerizing factors cofilin-1/CFL1, cofilin-2/CFL2 and destrin/DSTN, thereby preventing the cleavage of filamentous actin (F-actin), and stabilizing the actin cytoskeleton. In this way LIMK1 regulates several actin-dependent biological processes including cell motility, cell cycle progression, and differentiation. Phosphorylates TPPP on serine residues, thereby promoting microtubule disassembly. Stimulates axonal outgrowth and may be involved in brain development (By similarity). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:17990; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46609; Evidence=; Self-associates to form homodimers. Interacts with HSP90AA1; this interaction promotes LIMK1 dimerization and subsequent transphosphorylation. Interacts with CDKN1C (By similarity). Interacts (via LIM domain) with the cytoplasmic domain of NRG1 (By similarity). Interacts with NISCH (PubMed:18332102). Interacts with SSH1 (PubMed:15660133). Interacts with RLIM and RNF6 (PubMed:16204183). Interacts (via LIM zinc-binding domains) with FAM89B/LRAP25 (via LRR repeat). Forms a tripartite complex with CDC42BPA, CDC42BPB and FAM89B/LRAP25 (PubMed:25107909). Cytoplasm Nucleus Cytoplasm, cytoskeleton Cell projection, lamellipodium Note=Predominantly found in the cytoplasm (By similarity). Localizes in the lamellipodium in a CDC42BPA, CDC42BPB and FAM89B/LRAP25-dependent manner. Highest expression in the nervous system, particularly in the spinal cord and the cranial nerve and dorsal root ganglia. Expressed in ventral neural tube and axonal projections at 12.5 dpc-13 dpc (at protein level). Autophosphorylated. Phosphorylated on Thr-508 by ROCK1 and PAK1, resulting in activation. Phosphorylated by PAK4 which increases the ability of LIMK1 to phosphorylate cofilin. Phosphorylated at Ser-323 by MAPKAPK2 during activation of VEGFA-induced signaling, which results in activation of LIMK1 and promotion of actin reorganization, cell migration, and tubule formation of endothelial cells. Dephosphorylated and inactivated by SSH1. Phosphorylated by CDC42BP (By similarity). Ubiquitinated. 'Lys-48'-linked polyubiquitination by RNF6 leads to proteasomal degradation through the 26S proteasome, modulating LIMK1 levels in the growth cone and its effect on axonal outgrowth. Also polyubiquitinated by RLIM. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus cytoplasm Golgi apparatus cytosol focal adhesion protein phosphorylation membrane kinase activity phosphorylation nuclear speck transferase activity lamellipodium actin cytoskeleton organization heat shock protein binding positive regulation of actin filament bundle assembly cell projection neuron projection axonal growth cone positive regulation of axon extension metal ion binding protein heterodimerization activity perinuclear region of cytoplasm negative regulation of ubiquitin-protein transferase activity positive regulation of stress fiber assembly uc008zwt.1 uc008zwt.2 uc008zwt.3 
ENSMUST00000015138.13 Eln ENSMUST00000015138.13 elastin (from RefSeq NM_007925.4) ELN_MOUSE ENSMUST00000015138.1 ENSMUST00000015138.10 ENSMUST00000015138.11 ENSMUST00000015138.12 ENSMUST00000015138.2 ENSMUST00000015138.3 ENSMUST00000015138.4 ENSMUST00000015138.5 ENSMUST00000015138.6 ENSMUST00000015138.7 ENSMUST00000015138.8 ENSMUST00000015138.9 NM_007925 P54320 Q8C9L8 uc008zwv.1 uc008zwv.2 uc008zwv.3 uc008zwv.4 This gene encodes elastin, the extracellular matrix protein that forms a major structural component of several tissues including lungs and arterial walls. Cleavage of the signal peptide from the encoded precursor generates soluble tropoelastin which undergoes lysine-derived crosslinking to form elastin polymers. Mice lacking the encoded protein exhibit defective lung development, and die of an obstructive arterial disease resulting from subendothelial cell proliferation and reorganization of smooth muscle. [provided by RefSeq, Aug 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC051649.1, AK041860.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Major structural protein of tissues such as aorta and nuchal ligament, which must expand rapidly and recover completely. Molecular determinant of the late arterial morphogenesis, stabilizing arterial structure by regulating proliferation and organization of vascular smooth muscle. The polymeric elastin chains are cross-linked together into an extensible 3D network. Forms a ternary complex with BGN and MFAP2. Interacts with MFAP2 via divalent cations (calcium > magnesium > manganese) in a dose-dependent and saturating manner. Interacts with FBLN5 and FBN1. Forms a ternary complex with FBN1 and FBLN2 or FBLN5. Interacts with MFAP4 in a Ca (2+)-dependent manner; this interaction promotes ELN self-assembly (By similarity). Interacts with EFEMP2 with moderate affinity (By similarity). Secreted, extracellular space, extracellular matrix Note=Extracellular matrix of elastic fibers. Elastin is formed through the cross-linking of its soluble precursor tropoelastin. Cross-linking is initiated through the action of lysyl oxidase on exposed lysines to form allysine. Subsequent spontaneous condensation reactions with other allysine or unmodified lysine residues result in various bi-, tri-, and tetrafunctional cross- links. The most abundant cross-links in mature elastin fibers are lysinonorleucine, allysine aldol, desmosine, and isodesmosine. Hydroxylation on proline residues within the sequence motif, GXPG, is most likely to be 4-hydroxy as this fits the requirement for 4- hydroxylation in vertebrates. Belongs to the elastin family. outflow tract morphogenesis extracellular matrix structural constituent protein binding extracellular region mitochondrion skeletal muscle tissue development extracellular matrix constituent conferring elasticity extracellular matrix organization regulation of actin filament polymerization stress fiber assembly extracellular matrix binding elastic fiber uc008zwv.1 uc008zwv.2 uc008zwv.3 uc008zwv.4 
ENSMUST00000015146.16 Efr3a ENSMUST00000015146.16 EFR3 homolog A, transcript variant 1 (from RefSeq NM_133766.4) EFR3A_MOUSE ENSMUST00000015146.1 ENSMUST00000015146.10 ENSMUST00000015146.11 ENSMUST00000015146.12 ENSMUST00000015146.13 ENSMUST00000015146.14 ENSMUST00000015146.15 ENSMUST00000015146.2 ENSMUST00000015146.3 ENSMUST00000015146.4 ENSMUST00000015146.5 ENSMUST00000015146.6 ENSMUST00000015146.7 ENSMUST00000015146.8 ENSMUST00000015146.9 Efr3a Kiaa0143 NM_133766 Q6ZQI4 Q8BG67 Q8BXQ7 Q8C0Q0 Q922I2 uc007vzu.1 uc007vzu.2 uc007vzu.3 Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, EFR3A probably acts as the membrane-anchoring component. Also involved in responsiveness to G- protein-coupled receptors; it is however unclear whether this role is direct or indirect. Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and HYCC (HYCC1 or HYCC2). Cell membrane ; Lipid-anchor Cytoplasm, cytosol Note=Palmitoylation anchors the protein to the plasma membrane. A small amount is observed in the cytosol. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BG67-1; Sequence=Displayed; Name=2; IsoId=Q8BG67-2; Sequence=VSP_022219; Widely expressed (PubMed:25380825). Expressed in neurons of the superior olivary complex of the auditory brainstem. Also expressed at lower levels in the cochlear nucleus, the lateral leminiscal nuclei and the inferior collicus (PubMed:15363888). Expression is reduced in animals with impaired hearing. Palmitoylated at its N-terminus, anchoring the protein to the plasma membrane. Belongs to the EFR3 family. Sequence=BAC97875.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; cornified envelope cytoplasm cytosol plasma membrane membrane protein homodimerization activity protein localization to plasma membrane cell-cell adhesion uc007vzu.1 uc007vzu.2 uc007vzu.3 
ENSMUST00000015157.10 Trappc2l ENSMUST00000015157.10 trafficking protein particle complex 2L (from RefSeq NM_021502.2) A4FUI9 ENSMUST00000015157.1 ENSMUST00000015157.2 ENSMUST00000015157.3 ENSMUST00000015157.4 ENSMUST00000015157.5 ENSMUST00000015157.6 ENSMUST00000015157.7 ENSMUST00000015157.8 ENSMUST00000015157.9 NM_021502 Q9JME7 TPC2L_MOUSE uc009ntj.1 uc009ntj.2 uc009ntj.3 uc009ntj.4 May play a role in vesicular transport from endoplasmic reticulum to Golgi. Component of the multisubunit TRAPP (transport protein particle) complex, which includes at least TRAPPC2, TRAPPC2L, TRAPPC3, TRAPPC3L, TRAPPC4, TRAPPC5, TRAPPC8, TRAPPC9, TRAPPC10, TRAPPC11 and TRAPPC12. Interacts with the heterodimer TRAPPC3-TRAPPC6A (By similarity). Cytoplasm, perinuclear region Endoplasmic reticulum Golgi apparatus Belongs to the TRAPP small subunits family. Sedlin subfamily. Sequence=AAI14969.1; Type=Erroneous initiation; Evidence=; cytoplasm endoplasmic reticulum Golgi apparatus cytosol ER to Golgi vesicle-mediated transport vesicle-mediated transport TRAPP complex intracellular membrane-bounded organelle perinuclear region of cytoplasm protein oligomerization uc009ntj.1 uc009ntj.2 uc009ntj.3 uc009ntj.4 
ENSMUST00000015160.6 Acsf3 ENSMUST00000015160.6 acyl-CoA synthetase family member 3 (from RefSeq NM_144932.4) ACSF3_MOUSE Acsf3 ENSMUST00000015160.1 ENSMUST00000015160.2 ENSMUST00000015160.3 ENSMUST00000015160.4 ENSMUST00000015160.5 NM_144932 Q3URE1 Q78IW2 Q8VC75 uc009ntt.1 uc009ntt.2 uc009ntt.3 Catalyzes the initial reaction in intramitochondrial fatty acid synthesis, by activating malonate and methylmalonate, but not acetate, into their respective CoA thioester. May have some preference toward very-long-chain substrates. Reaction=ATP + CoA + tetracosanoate = AMP + diphosphate + tetracosanoyl-CoA; Xref=Rhea:RHEA:33639, ChEBI:CHEBI:30616, ChEBI:CHEBI:31014, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:65052, ChEBI:CHEBI:456215; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:33640; Evidence=; Reaction=ATP + CoA + malonate = AMP + diphosphate + malonyl-CoA; Xref=Rhea:RHEA:32139, ChEBI:CHEBI:15792, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:456215; EC=6.2.1.76; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:32140; Evidence=; Mitochondrion Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q3URE1-1; Sequence=Displayed; Name=2; IsoId=Q3URE1-2; Sequence=VSP_030705, VSP_030706; Belongs to the ATP-dependent AMP-binding enzyme family. Sequence=AAH22709.3; Type=Erroneous initiation; Evidence=; nucleotide binding catalytic activity ATP binding mitochondrion lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process ligase activity acid-thiol ligase activity very long-chain fatty acid-CoA ligase activity malonyl-CoA synthetase activity malonate catabolic process uc009ntt.1 uc009ntt.2 uc009ntt.3 
ENSMUST00000015171.11 Galns ENSMUST00000015171.11 galactosamine (N-acetyl)-6-sulfatase, transcript variant 1 (from RefSeq NM_016722.4) ENSMUST00000015171.1 ENSMUST00000015171.10 ENSMUST00000015171.2 ENSMUST00000015171.3 ENSMUST00000015171.4 ENSMUST00000015171.5 ENSMUST00000015171.6 ENSMUST00000015171.7 ENSMUST00000015171.8 ENSMUST00000015171.9 GALNS_MOUSE NM_016722 Q3TWQ4 Q571E4 Q99KU8 Q9JHK9 uc012gmh.1 uc012gmh.2 uc012gmh.3 Reaction=Hydrolysis of the 6-sulfate groups of the N-acetyl-D- galactosamine 6-sulfate units of chondroitin sulfate and of the D- galactose 6-sulfate units of keratan sulfate.; EC=3.1.6.4; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Note=Binds 1 Ca(2+) ion per subunit. ; Homodimer. Lysosome Widely expressed. Higher expression in liver and kidney. The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. Belongs to the sulfatase family. Sequence=BAD90170.1; Type=Erroneous initiation; Evidence=; catalytic activity arylsulfatase activity lysosome sulfuric ester hydrolase activity hydrolase activity N-acetylgalactosamine-6-sulfatase activity metal ion binding uc012gmh.1 uc012gmh.2 uc012gmh.3 
ENSMUST00000015236.4 Edf1 ENSMUST00000015236.4 endothelial differentiation-related factor 1 (from RefSeq NM_021519.2) EDF1_MOUSE ENSMUST00000015236.1 ENSMUST00000015236.2 ENSMUST00000015236.3 NM_021519 Q99NE6 Q9JMG1 uc008isn.1 uc008isn.2 uc008isn.3 Transcriptional coactivator stimulating NR5A1 and ligand- dependent NR1H3/LXRA and PPARG transcriptional activities. Enhances the DNA-binding activity of ATF1, ATF2, CREB1 and NR5A1. Regulates nitric oxid synthase activity probably by sequestering calmodulin in the cytoplasm. Might function in endothelial cells differentiation, hormone-induced cardiomyocytes hypertrophy and lipid metabolism (By similarity). Interacts with TBP and the transcription factor IID (TFIID) complex, NR5A2, NR1H3 and PPARG. Interaction with TBP is regulated by phosphorylation. Binds NR5A1, ATF1, FOS and JUN via their conserved basic region. Binding to calmodulin is regulated by calcium and phosphorylation of the IQ motif (By similarity). Cytoplasm Nucleus Note=Also nuclear upon binding to NR5A1 and treatment of cells with TPA or forskolin. Expressed in brain, liver, kidney and heart (at protein level). Also expressed in testis. Very highly expressed seven days after implantation, when gastrulation and neurulation occurs. Expression decreases 11 days after implantation, when organogenesis is being completed, and remains rather low up to late developmental stages. The IQ motif, which is involved in calmodulin binding, overlaps with the binding domain for nuclear receptors and transcription factors. Its phosphorylation probably allows a switch between the two activities of the protein (By similarity). Phosphorylated. TFIID-class transcription factor binding DNA binding transcription coactivator activity calmodulin binding nucleus nucleolus cytoplasm cytosol multicellular organism development cell differentiation positive regulation of DNA binding positive regulation of nucleic acid-templated transcription uc008isn.1 uc008isn.2 uc008isn.3 
ENSMUST00000015239.10 Fbxw5 ENSMUST00000015239.10 F-box and WD-40 domain protein 5, transcript variant 1 (from RefSeq NM_013908.5) A2AJ36 A2AJ37 E9QMP0 ENSMUST00000015239.1 ENSMUST00000015239.2 ENSMUST00000015239.3 ENSMUST00000015239.4 ENSMUST00000015239.5 ENSMUST00000015239.6 ENSMUST00000015239.7 ENSMUST00000015239.8 ENSMUST00000015239.9 FBXW5_MOUSE Fbw5 NM_013908 Q3U368 Q9QXW2 uc008isj.1 uc008isj.2 uc008isj.3 Substrate recognition component of both SCF (SKP1-CUL1-F-box protein) and DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complexes. Substrate-specific adapter of the DCX(FBXW5) E3 ubiquitin- protein ligase complex which mediates the polyubiquitination and subsequent degradation of TSC2. May also act as a negative regulator of MAP3K7/TAK1 signaling in the interleukin-1B (IL1B) signaling pathway. Substrate recognition component of the SCF(FBXW5) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of SASS6 during S phase, leading to prevent centriole reduplication (By similarity). The SCF(FBXW5) complex also mediates ubiquitination and degradation of actin-regulator EPS8 during G2 phase, leading to the transient degradation of EPS8 and subsequent cell shape changes required to allow mitotic progression. Protein modification; protein ubiquitination. Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXW5) composed of CUL1, SKP1, RBX1 and FBXW5. Component of the DCX(FBXW5) E3 ubiquitin ligase complex, at least composed of (CUL4A or CUL4B), DDB1, FBXW5 and RBX1. Interacts with CDC20, TSC1, TSC2 and SASS6 (By similarity). Interacts with EPS8. Interacts with TNFAIP8L1; TNFAIP8L1 competes with TSC2 to bind FBXW5 increasing TSC2 stability by preventing its ubiquitination. Q9QXW2; Q9WTX5: Skp1; NbExp=2; IntAct=EBI-16031930, EBI-1202363; Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9QXW2-1; Sequence=Displayed; Name=2; IsoId=Q9QXW2-2; Sequence=VSP_042293, VSP_042294; Widely expressed in adult and embryonal tissues. The F-box domain mediates interaction with components of SCF (SKP1-CUL1-F-box protein) complexes, while WD repeats mediate interaction with components of DCX (DDB1-CUL4-X-box) complexes. The D-box (destruction box) mediate the interaction with APC proteins, and acts as a recognition signal for degradation via the ubiquitin-proteasome pathway. Phosphorylated at Ser-151 by PLK4 during the G1/S transition, leading to inhibit its ability to ubiquitinate SASS6. Ubiquitinated and degraded by the APC/C complex during mitosis and G1 phase. Belongs to the FBXW5 family. Sequence=CAM25630.1; Type=Erroneous gene model prediction; Evidence=; protein binding cytoplasm regulation of mitotic nuclear division regulation of centrosome duplication protein ubiquitination SCF ubiquitin ligase complex protein kinase binding SCF-dependent proteasomal ubiquitin-dependent protein catabolic process proteasome-mediated ubiquitin-dependent protein catabolic process Cul4-RING E3 ubiquitin ligase complex uc008isj.1 uc008isj.2 uc008isj.3 
ENSMUST00000015267.6 Prss28 ENSMUST00000015267.6 serine protease 28 (from RefSeq NM_053259.2) A0A0R4IZZ8 A0A0R4IZZ8_MOUSE ENSMUST00000015267.1 ENSMUST00000015267.2 ENSMUST00000015267.3 ENSMUST00000015267.4 ENSMUST00000015267.5 NM_053259 Prss28 uc008ban.1 uc008ban.2 uc008ban.3 Belongs to the peptidase S1 family. CLIP subfamily. serine-type endopeptidase activity proteolysis peptidase activity serine-type peptidase activity hydrolase activity uc008ban.1 uc008ban.2 uc008ban.3 
ENSMUST00000015277.14 Lrrk1 ENSMUST00000015277.14 leucine-rich repeat kinase 1 (from RefSeq NM_146191.3) ENSMUST00000015277.1 ENSMUST00000015277.10 ENSMUST00000015277.11 ENSMUST00000015277.12 ENSMUST00000015277.13 ENSMUST00000015277.2 ENSMUST00000015277.3 ENSMUST00000015277.4 ENSMUST00000015277.5 ENSMUST00000015277.6 ENSMUST00000015277.7 ENSMUST00000015277.8 ENSMUST00000015277.9 Kiaa1790 LRRK1_MOUSE Lrrk1 NM_146191 Q3U476 Q3UHC2 Q66JQ4 Q6GQR9 Q6NZF5 Q6ZPI4 Q8BKP3 Q8BU93 Q8BUY0 Q8BVV2 Q8R085 uc009hhd.1 uc009hhd.2 uc009hhd.3 uc009hhd.4 Plays a role in the negative regulation of bone mass, acting through the maturation of osteoclasts. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Binding of GTP stimulates kinase activity. Homodimer (By similarity). Interacts with CSK (PubMed:23526378). Cytoplasm Event=Alternative splicing; Named isoforms=3; Name=1 ; IsoId=Q3UHC2-1; Sequence=Displayed; Name=2 ; IsoId=Q3UHC2-2; Sequence=VSP_052014; Name=3 ; IsoId=Q3UHC2-3; Sequence=VSP_052013, VSP_052015, VSP_052016; Expressed in osteoclasts and bone marrow stromal cells. Knockout mice are born at the expected Mendelian ratio. At 4 weeks of age, their body length is slightly shorter than that of wild-type littermates. They progressively develop severe osteopetrosis, reduced bone resorption in endocortical and trabecular regions, and increased bone mineralization. Knockout animals have lifelong accumulation of bone, and females are resistant to ovariectomy-induced bone loss. Osteoclasts derived from mutant mice form a reduced area of resorption pits compared to controls, suggesting dysfunction of multinucleated osteoclasts. Osteoclast precursors differentiate into multinucleated cells, but fail to form peripheral sealing zones and ruffled borders, and do not resorb bone (PubMed:23526378, PubMed:27055475). These abnormalities are associated with changes in the SRC signaling pathway. This phenotype may be specific LRRK1 ablation, as knockout of the paralogous gene LRRK2 does not show any obvious bone phenotype (PubMed:23526378). Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. ROCO subfamily. Sequence=AAH27199.1; Type=Erroneous initiation; Evidence=; Sequence=BAC36341.1; Type=Erroneous initiation; Evidence=; Sequence=BAC39743.1; Type=Erroneous initiation; Evidence=; nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding GTP binding cytoplasm mitochondrion cytosol protein phosphorylation kinase activity phosphorylation transferase activity osteoclast development identical protein binding bone resorption metal ion binding positive regulation of peptidyl-tyrosine phosphorylation negative regulation of peptidyl-tyrosine phosphorylation positive regulation of canonical Wnt signaling pathway positive regulation of intracellular signal transduction uc009hhd.1 uc009hhd.2 uc009hhd.3 uc009hhd.4 
ENSMUST00000015278.15 Aldh1a3 ENSMUST00000015278.15 aldehyde dehydrogenase family 1, subfamily A3 (from RefSeq NM_053080.3) AL1A3_MOUSE Aldh6 ENSMUST00000015278.1 ENSMUST00000015278.10 ENSMUST00000015278.11 ENSMUST00000015278.12 ENSMUST00000015278.13 ENSMUST00000015278.14 ENSMUST00000015278.2 ENSMUST00000015278.3 ENSMUST00000015278.4 ENSMUST00000015278.5 ENSMUST00000015278.6 ENSMUST00000015278.7 ENSMUST00000015278.8 ENSMUST00000015278.9 NM_053080 Q9EQP7 Q9JHW9 Q9JI72 Raldh3 uc009hhi.1 uc009hhi.2 uc009hhi.3 uc009hhi.4 uc009hhi.5 Catalyzes the NAD-dependent oxidation of aldehyde substrates, such as all-trans-retinal and all-trans-13,14-dihydroretinal, to their corresponding carboxylic acids, all-trans-retinoate and all-trans- 13,14-dihydroretinoate, respectively (PubMed:11013254, PubMed:11044606, PubMed:14623956, PubMed:15911617). High specificity for all-trans- retinal as substrate, can also accept acetaldehyde as substrate in vitro but with lower affinity (By similarity). Required for the biosynthesis of normal levels of retinoate in the embryonic ocular and nasal regions; a critical lipid in the embryonic development of the eye and the nasal region (PubMed:14623956). Reaction=H2O + NAD(+) + retinal = 2 H(+) + NADH + retinoate; Xref=Rhea:RHEA:16177, ChEBI:CHEBI:15035, ChEBI:CHEBI:15036, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.2.1.36; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16178; Evidence=; Reaction=all-trans-retinal + H2O + NAD(+) = all-trans-retinoate + 2 H(+) + NADH; Xref=Rhea:RHEA:42080, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17898, ChEBI:CHEBI:35291, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.2.1.36; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42081; Evidence= Reaction=all-trans-13,14-dihydroretinal + H2O + NAD(+) = all-trans- 13,14-dihydroretinoate + 2 H(+) + NADH; Xref=Rhea:RHEA:75119, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:194182, ChEBI:CHEBI:194183; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:75120; Evidence=; Kinetic parameters: KM=0.33 uM for all-trans retinal ; Vmax=58 nmol/min/mg enzyme for all-trans retinal ; Cofactor metabolism; retinol metabolism. Homotetramer. Cytoplasm Detected in embryonic head (at protein level) (PubMed:14623956). Ventral retina. In mouse embryos, RALDH3 expression is first noticed in the ventral optic eminence at 8.75 dpc, then in the optic vesicle/cup, otic vesicle and olfactory placode/pit from 9.5 dpc to 11.5 dpc. Mutant mice are born at the expected Mendelian rate, but all die within 10 hours after birth (PubMed:14623956, PubMed:23536097). Lethality is due to respiratory distress, caused by choanal atresia, i.e. the lack of communication between the nasal and oral cavities. Mutant embryos at 11.5 dpc lack detectable retinoic acid in the ventral retina, nasal epithelium and in the nasolacrimal groove. At 14.5 dpc mutant embryos display shortening of the ventral retina associated with lens rotation and persistence of the retrolenticular membrane, indicative of retinoic acid deficiency. Still, at 18.5 dpc the ventral retina appears normal. Embryos at 18.5 dpc lack Harderian glands, and display multiple malformations in the nasal region, including choanal atresia, lack of maxillary sinuses and nasolacrimal ducts (PubMed:14623956). Oral gavage of pregnant females with retinoic acid prevents choanal atresia and other malformations of the nasal region (PubMed:14623956, PubMed:23536097). Females that were fed retinoic acid give birth to pups with malformations of the inner ear vestibular organ, causing repetitive circling behavior with head tilting (PubMed:23536097). Likewise, mice display impaired ability in crossing a beam without slipping and an impaired ability to swim (PubMed:23536097). Belongs to the aldehyde dehydrogenase family. retinal dehydrogenase activity optic cup morphogenesis involved in camera-type eye development retinoic acid biosynthetic process 3-chloroallyl aldehyde dehydrogenase activity aldehyde dehydrogenase (NAD) activity aldehyde dehydrogenase [NAD(P)+] activity nucleus cytoplasm cytosol plasma membrane cellular aldehyde metabolic process locomotory behavior oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor nucleus accumbens development embryonic camera-type eye development inner ear morphogenesis retinol metabolic process retinoic acid metabolic process retinal metabolic process protein homodimerization activity positive regulation of apoptotic process nose development embryonic eye morphogenesis positive regulation of retinoic acid receptor signaling pathway neuromuscular process controlling balance protein homotetramerization oxidation-reduction process righting reflex olfactory pit development face development thyroid hormone binding Harderian gland development NAD+ binding uc009hhi.1 uc009hhi.2 uc009hhi.3 uc009hhi.4 uc009hhi.5 
ENSMUST00000015333.12 Casd1 ENSMUST00000015333.12 CAS1 domain containing 1, transcript variant 1 (from RefSeq NM_145398.4) CASD1_MOUSE Cas1 Casd1 Cast1 ENSMUST00000015333.1 ENSMUST00000015333.10 ENSMUST00000015333.11 ENSMUST00000015333.2 ENSMUST00000015333.3 ENSMUST00000015333.4 ENSMUST00000015333.5 ENSMUST00000015333.6 ENSMUST00000015333.7 ENSMUST00000015333.8 ENSMUST00000015333.9 NM_145398 Q1RN01 Q6PD39 Q7TN73 Q8VEF5 uc009avo.1 uc009avo.2 uc009avo.3 O-acetyltransferase that catalyzes 9-O-acetylation of sialic acids. Sialic acids are sugars at the reducing end of glycoproteins and glycolipids, and are involved in various processes such as cell-cell interactions, host-pathogen recognition. Reaction=acetyl-CoA + N-acetylneuraminate = CoA + N-acetyl-9-O- acetylneuraminate; Xref=Rhea:RHEA:26043, ChEBI:CHEBI:28999, ChEBI:CHEBI:35418, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=2.3.1.45; Evidence=; Reaction=acetyl-CoA + N-acetylneuraminate = CoA + N-acetyl-7-O- acetylneuraminate; Xref=Rhea:RHEA:20808, ChEBI:CHEBI:28944, ChEBI:CHEBI:35418, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=2.3.1.45; Evidence=; Golgi apparatus membrane ; Multi-pass membrane protein Ubiquitously expressed. Expressed in neonatal brain and in day 10 and 13 embryo. N-glycosylated. The Casd1 locus is imprinted. Maternal inherited gene is expressed, while the paternal inherited gene is silenced. Belongs to the PC-esterase family. CASD1 subfamily. Sequence=AAH18542.1; Type=Erroneous initiation; Evidence=; Sequence=AAH38009.1; Type=Erroneous initiation; Evidence=; Golgi membrane protein binding Golgi apparatus carbohydrate metabolic process membrane integral component of membrane acetyltransferase activity transferase activity transferase activity, transferring acyl groups integral component of Golgi membrane N-acetylneuraminate 7-O(or 9-O)-acetyltransferase activity uc009avo.1 uc009avo.2 uc009avo.3 
ENSMUST00000015346.12 Cnksr3 ENSMUST00000015346.12 Cnksr family member 3 (from RefSeq NM_172546.2) CNKR3_MOUSE ENSMUST00000015346.1 ENSMUST00000015346.10 ENSMUST00000015346.11 ENSMUST00000015346.2 ENSMUST00000015346.3 ENSMUST00000015346.4 ENSMUST00000015346.5 ENSMUST00000015346.6 ENSMUST00000015346.7 ENSMUST00000015346.8 ENSMUST00000015346.9 NM_172546 Q3UDS2 Q8BMA3 Q8K2K0 uc007efb.1 uc007efb.2 uc007efb.3 Involved in transepithelial sodium transport. Regulates aldosterone-induced and epithelial sodium channel (ENaC)-mediated sodium transport through regulation of ENaC cell surface expression. Acts as a scaffold protein coordinating the assembly of an ENaC- regulatory complex (ERC). Interacts with epithelial sodium channel ENaC. Interacts directly with SCNN1A (ENaC subunit alpha) and SCNN1B (ENaC subunit beta) C-terminal tails. Interacts with ENaC regulatory proteins NEDD4L, RAF1 and SGK1. Cytoplasm Apical cell membrane ; Peripheral membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BMA3-1; Sequence=Displayed; Name=2; IsoId=Q8BMA3-2; Sequence=VSP_029391, VSP_029615; Expressed in kidney. The PDZ domain is required for interaction with ENaC and SGK1, but not for interaction with NEDDL4 and RAF1. Belongs to the CNKSR family. molecular_function cellular_component cytoplasm plasma membrane regulation of signal transduction positive regulation of sodium ion transport membrane apical plasma membrane negative regulation of peptidyl-serine phosphorylation negative regulation of ERK1 and ERK2 cascade positive regulation of sodium ion transmembrane transporter activity uc007efb.1 uc007efb.2 uc007efb.3 
ENSMUST00000015358.8 Mtmr1 ENSMUST00000015358.8 myotubularin related protein 1, transcript variant 1 (from RefSeq NM_016985.3) ENSMUST00000015358.1 ENSMUST00000015358.2 ENSMUST00000015358.3 ENSMUST00000015358.4 ENSMUST00000015358.5 ENSMUST00000015358.6 ENSMUST00000015358.7 MTMR1_MOUSE NM_016985 Q9Z2C4 uc009tjt.1 uc009tjt.2 Lipid phosphatase that has high specificity for phosphatidylinositol 3-phosphate and has no activity with phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)- bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:12217958). Activity with phosphatidylinositol (3,5)- bisphosphate is controversial; it has been shown for the human ortholog (By similarity). In contrast, PubMed:12217958 find no activity with this substrate. Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5- bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo- inositol-5-phosphate) + phosphate; Xref=Rhea:RHEA:39019, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57795, ChEBI:CHEBI:57923; EC=3.1.3.95; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3- phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo- inositol) + phosphate; Xref=Rhea:RHEA:12316, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57880, ChEBI:CHEBI:58088; EC=3.1.3.64; Evidence=; Reaction=1,2-dioctanoyl-sn-glycero-3-phospho-(1-D-myo-inositol-3- phosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo- inositol) + phosphate; Xref=Rhea:RHEA:42328, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:65221, ChEBI:CHEBI:78934; Evidence=; Homodimer. Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasm Widely expressed. Detected in skeletal muscle, heart, lung, liver and brain. The C-terminal region is required for dimerization. Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily. phosphatidylinositol-3-phosphatase activity protein tyrosine phosphatase activity cytoplasm plasma membrane lipid metabolic process membrane dephosphorylation hydrolase activity phosphatase activity peptidyl-tyrosine dephosphorylation protein homodimerization activity phosphatidylinositol dephosphorylation phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity phosphatidylinositol phosphate phosphatase activity regulation of phosphatidylinositol dephosphorylation uc009tjt.1 uc009tjt.2 
ENSMUST00000015368.8 Cyp2j11 ENSMUST00000015368.8 cytochrome P450, family 2, subfamily j, polypeptide 11 (from RefSeq NM_001004141.2) Cyp2j11 Cyp2j11-ps ENSMUST00000015368.1 ENSMUST00000015368.2 ENSMUST00000015368.3 ENSMUST00000015368.4 ENSMUST00000015368.5 ENSMUST00000015368.6 ENSMUST00000015368.7 NM_001004141 Q3UNV2 Q3UNV2_MOUSE uc008tth.1 uc008tth.2 uc008tth.3 uc008tth.4 uc008tth.5 uc008tth.6 Name=heme; Xref=ChEBI:CHEBI:30413; Evidence=; Belongs to the cytochrome P450 family. monooxygenase activity iron ion binding cytoplasm organic acid metabolic process xenobiotic metabolic process steroid hydroxylase activity oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen heme binding exogenous drug catabolic process intracellular membrane-bounded organelle metal ion binding oxidation-reduction process uc008tth.1 uc008tth.2 uc008tth.3 uc008tth.4 uc008tth.5 uc008tth.6 
ENSMUST00000015391.10 Nipsnap3b ENSMUST00000015391.10 nipsnap homolog 3B, transcript variant 1 (from RefSeq NM_025623.4) B1AWZ4 ENSMUST00000015391.1 ENSMUST00000015391.2 ENSMUST00000015391.3 ENSMUST00000015391.4 ENSMUST00000015391.5 ENSMUST00000015391.6 ENSMUST00000015391.7 ENSMUST00000015391.8 ENSMUST00000015391.9 NM_025623 NPS3B_MOUSE Nipsnap3a Q8VHX9 Q9CQE1 uc008swt.1 uc008swt.2 uc008swt.3 Cytoplasm, cytosol. Note=May be part of some vesicular structure distinct from lysosomal vesicles. Belongs to the NipSnap family. molecular_function cytoplasm mitochondrion cytosol biological_process uc008swt.1 uc008swt.2 uc008swt.3 
ENSMUST00000015394.10 Mmp13 ENSMUST00000015394.10 matrix metallopeptidase 13 (from RefSeq NM_008607.2) ENSMUST00000015394.1 ENSMUST00000015394.2 ENSMUST00000015394.3 ENSMUST00000015394.4 ENSMUST00000015394.5 ENSMUST00000015394.6 ENSMUST00000015394.7 ENSMUST00000015394.8 ENSMUST00000015394.9 Mmp13 NM_008607 Q3U9V5 Q3U9V5_MOUSE uc009ocg.1 uc009ocg.2 uc009ocg.3 uc009ocg.4 This gene encodes a member of the matrix metalloproteinase family that plays a role in wound healing, skeletal development and bone remodeling. The encoded protein is activated by the removal of an N-terminal activation peptide to generate a zinc-dependent endopeptidase enzyme that can cleave various native collagens, including types I - IV, X and XIV. Mice lacking the encoded protein display profound defects in growth plate cartilage as well as a delay in the endochondral bone development. Lack of the encoded protein also impairs the wound healing process due to reduced keratinocyte migration and vascular density at the wound site. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Jun 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC125320.1, AK150728.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN00849385 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a role in the degradation of extracellular matrix proteins including fibrillar collagen, fibronectin, TNC and ACAN. Cleaves triple helical collagens, including type I, type II and type III collagen, but has the highest activity with soluble type II collagen. Can also degrade collagen type IV, type XIV and type X. May also function by activating or degrading key regulatory proteins, such as TGFB1 and CCN2. Plays a role in wound healing, tissue remodeling, cartilage degradation, bone development, bone mineralization and ossification. Required for normal embryonic bone development and ossification. Plays a role in the healing of bone fractures via endochondral ossification. Plays a role in wound healing, probably by a mechanism that involves proteolytic activation of TGFB1 and degradation of CCN2. Plays a role in keratinocyte migration during wound healing. May play a role in cell migration and in tumor cell invasion. Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Note=Can bind about 5 Ca(2+) ions per subunit. ; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) ions per subunit. Secreted Belongs to the peptidase M10A family. metalloendopeptidase activity calcium ion binding collagen binding extracellular region proteolysis peptidase activity metallopeptidase activity zinc ion binding hydrolase activity extracellular matrix disassembly collagen catabolic process extracellular matrix metal ion binding bone morphogenesis uc009ocg.1 uc009ocg.2 uc009ocg.3 uc009ocg.4 
ENSMUST00000015433.4 Lage3 ENSMUST00000015433.4 L antigen family, member 3 (from RefSeq NM_025410.2) ENSMUST00000015433.1 ENSMUST00000015433.2 ENSMUST00000015433.3 Itba2 LAGE3_MOUSE Lage3 NM_025410 Q9CR70 uc009tor.1 uc009tor.2 uc009tor.3 Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. LAGE3 functions as a dimerization module for the complex. Component of the EKC/KEOPS complex composed of at least GON7, TP53RK, TPRKB, OSGEP and LAGE3; the whole complex dimerizes. Cytoplasm Nucleus Mouse embryos display primary microcephaly characterized by significantly shorter cortex lengths, cortex-midbrain midline lengths and cortex widths. Mice do not show a renal phenotype. Belongs to the CTAG/PCC1 family. EKC/KEOPS complex molecular_function nucleus cytoplasm tRNA processing positive regulation of transcription from RNA polymerase II promoter tRNA threonylcarbamoyladenosine metabolic process uc009tor.1 uc009tor.2 uc009tor.3 
ENSMUST00000015435.11 Gdi1 ENSMUST00000015435.11 GDP dissociation inhibitor 1 (from RefSeq NM_010273.4) A2AMA8 ENSMUST00000015435.1 ENSMUST00000015435.10 ENSMUST00000015435.2 ENSMUST00000015435.3 ENSMUST00000015435.4 ENSMUST00000015435.5 ENSMUST00000015435.6 ENSMUST00000015435.7 ENSMUST00000015435.8 ENSMUST00000015435.9 GDIA_MOUSE NM_010273 P50396 Q3TBI9 Q8VHM3 Q91Y71 Q91Z41 Q96CX5 Rabgdia uc009tom.1 uc009tom.2 uc009tom.3 uc009tom.4 Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and RAB10 from membranes. Interacts with RHOH (By similarity). Interacts with the non- phosphorylated forms of RAB1A, RAB3A, RAB5A, RAB5B, RAB5C, RAB8A, RAB8B, RAB12, RAB35, and RAB43 (By similarity). Interacts with RAB10 (PubMed:19570034). Cytoplasm Golgi apparatus, trans- Golgi network High expression in brain, lower in other tissues. Belongs to the Rab GDI family. GDP-dissociation inhibitor activity Rab GDP-dissociation inhibitor activity GTPase activator activity cytoplasm Golgi apparatus small GTPase mediated signal transduction protein transport vesicle-mediated transport Rab GTPase binding axon midbody Rab protein signal transduction macromolecular complex neuron projection neuronal cell body myelin sheath positive regulation of GTPase activity positive regulation of axon extension negative regulation of axonogenesis regulation of catalytic activity response to calcium ion negative regulation of protein targeting to membrane uc009tom.1 uc009tom.2 uc009tom.3 uc009tom.4 
ENSMUST00000015449.6 Sash1 ENSMUST00000015449.6 SAM and SH3 domain containing 1 (from RefSeq NM_175155.4) ENSMUST00000015449.1 ENSMUST00000015449.2 ENSMUST00000015449.3 ENSMUST00000015449.4 ENSMUST00000015449.5 F8VQK5 F8VQK5_MOUSE NM_175155 Sash1 uc007eiu.1 uc007eiu.2 protein polyubiquitination G-protein alpha-subunit binding cytoplasm protein C-terminus binding positive regulation of endothelial cell migration regulation of epithelial cell migration protein kinase binding mitogen-activated protein kinase kinase kinase binding positive regulation of lipopolysaccharide-mediated signaling pathway macromolecular complex positive regulation of JUN kinase activity positive regulation of angiogenesis binding, bridging regulation of protein K63-linked ubiquitination positive regulation of p38MAPK cascade positive regulation of NIK/NF-kappaB signaling regulation of protein autoubiquitination uc007eiu.1 uc007eiu.2 
ENSMUST00000015456.10 Gadd45b ENSMUST00000015456.10 growth arrest and DNA-damage-inducible 45 beta (from RefSeq NM_008655.1) ENSMUST00000015456.1 ENSMUST00000015456.2 ENSMUST00000015456.3 ENSMUST00000015456.4 ENSMUST00000015456.5 ENSMUST00000015456.6 ENSMUST00000015456.7 ENSMUST00000015456.8 ENSMUST00000015456.9 GA45B_MOUSE Myd118 NM_008655 P22339 Q3U342 Q9R106 uc007gfl.1 uc007gfl.2 uc007gfl.3 Involved in the regulation of growth and apoptosis. Mediates activation of stress-responsive MTK1/MEKK4 MAPKKK (By similarity). Interacts with GADD45GIP1. P22339; Q8TAE8: GADD45GIP1; Xeno; NbExp=3; IntAct=EBI-2266938, EBI-372506; In myeloid precursor enriched BM cells. By cytokines. Belongs to the GADD45 family. activation of MAPKKK activity activation of MAPKK activity protein binding nucleus cytoplasm negative regulation of protein kinase activity apoptotic process multicellular organism development cell differentiation positive regulation of apoptotic process positive regulation of JNK cascade regulation of cell cycle positive regulation of p38MAPK cascade uc007gfl.1 uc007gfl.2 uc007gfl.3 
ENSMUST00000015460.5 Slamf1 ENSMUST00000015460.5 signaling lymphocytic activation molecule family member 1, transcript variant 1 (from RefSeq NM_013730.4) ENSMUST00000015460.1 ENSMUST00000015460.2 ENSMUST00000015460.3 ENSMUST00000015460.4 NM_013730 Q9QUM4 Q9QXZ3 SLAF1_MOUSE Slam uc007dpc.1 uc007dpc.2 uc007dpc.3 Self-ligand receptor of the signaling lymphocytic activation molecule (SLAM) family. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. SLAMF1-induced signal-transduction events in T-lymphocytes are different from those in B-cells. Two modes of SLAMF1 signaling seem to exist: one depending on SH2D1A (and perhaps SH2D1B) and another in which protein-tyrosine phosphatase 2C (PTPN11)-dependent signal transduction operates. Initially it has been proposed that association with SH2D1A prevents binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2 (By similarity). However, signaling is also regulated by SH2D1A which can simultaneously interact with and recruit FYN which subsequently phosphorylates and activates SLAMF1 (By similarity). Mediates IL-2-independent proliferation of activated T- cells during immune responses and induces IFN-gamma production (PubMed:9126961, PubMed:12351401). Downstreaming signaling involves INPP5D, DOK1 and DOK2 leading to inhibited IFN-gamma production in T- cells, and PRKCQ, BCL10 and NFKB1 leading to increased T-cell activation and Th2 cytokine production (PubMed:11477403, PubMed:16847311, PubMed:15539155). Promotes T-cell receptor-induced IL- 4 secretion by CD4(+) cells (PubMed:15123745). Inhibits antigen receptor-mediated production of IFN-gamma, but not IL-2, in CD4(-)/CD8(-) T-cells (PubMed:11477403). Required for IL-4 production by germinal centers T follicular helper (T(Fh))cells (PubMed:20525889). May inhibit CD40-induced signal transduction in monocyte-derived dendritic cells (By similarity). May play a role in allergic responses and may regulate allergen-induced Th2 cytokine and Th1 cytokine secretion (PubMed:16528012). In conjunction with SLAMF6 controls the transition between positive selection and the subsequent expansion and differentiation of the thymocytic natural killer T (NKT) cell lineage (PubMed:18031695). Involved in the peripheral differentiation of indifferent natural killer T (iNKT) cells toward a regulatory NKT2 type (PubMed:18606638). In macrophages involved in down-regulation of IL-12, TNF-alpha and nitric oxide in response to lipopolysaccharide (LPS) (PubMed:15123745). In B-cells activates the ERK signaling pathway independently of SH2D1A but implicating both, SYK and INPP5D, and activates Akt signaling dependent on SYK and SH2D1A (PubMed:15315965). In conjunction with CD84/SLAMF5 and SLAMF6 may be a negative regulator of the humoral immune response (PubMed:25926831). (Microbial infection) Involved in innate immune response against Gram-negative bacteria in macrophages; probably recognizes OmpC and/or OmpF on the bacterial surface, regulates phagosome maturation and recruitment of the PI3K complex II (PI3KC3-C2) leading to accumulated of PdtIns(3)P and NOX2 activity in the phagosomes (PubMed:20818396, PubMed:22493499). Interacts (via cytoplasmic domain) with SH2D1A and SH2D1B; SH2D1A mediates association with FYN; SH2D1A binds to phosphorylated and not phosphorylated ITSM 1 (PubMed:9774102, PubMed:16847311, PubMed:11477403). Interacts (via cytoplasmic domain phosphorylated on tyrosine residues) with INPP5D and PTPN11; presence of SH2D1A facilitates binding to INPP5D (By similarity). Interacts with MAP4K1 (By similarity). Interacts with PIK3C3, BECN1 and UVRAG; indicative for an association with PI3K complex II (PI3KC3-C2) (PubMed:22493499). Q9QUM4; P39688: Fyn; NbExp=4; IntAct=EBI-7910086, EBI-524514; Q9QUM4; O88890: Sh2d1a; NbExp=3; IntAct=EBI-7910086, EBI-7910438; Q9QUM4; Q14457: BECN1; Xeno; NbExp=8; IntAct=EBI-7910086, EBI-949378; Q9QUM4; Q9P2Y5: UVRAG; Xeno; NbExp=6; IntAct=EBI-7910086, EBI-2952704; Cell membrane ; Single-pass type I membrane protein. Note=Present on the surface of B- cells and T-cells. Located at the plasma membrane contacts between neighboring T cells. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q9QUM4-1; Sequence=Displayed; Name=Short; IsoId=Q9QUM4-2; Sequence=VSP_002570; The ITSMs (immunoreceptor tyrosine-based switch motifs) with the consensus sequence T-X-Y-X-X-[VI] present in SLAM family receptors have overlapping specificity for activating and inhibitory SH2 domain- containing binding partners. Especially they mediate the interaction with the SH2 domain of SH2D1A and SH2D1B. For SLAMF1 a 'two-out-of- three-pronged' mechanism is proposed involving threonine (position -2), phosphorylated tyrosine (position 0) and valine/isoleucine (position +3). Binding is mediated by either three 'prongs' (for high affinity binding involving ITSM 1) or a combination of any two also including non-phosphorylated Tyr-288 of ITSM 1 thus providing a positive feedback loop implicating SH2D1A-dependent recruitment of activating FYN. ITSM 2 needs to be phosphorylated on Tyr-335 for SH2D1A binding. Phosphorylated on tyrosine residues by FYN (By similarity). natural killer cell differentiation natural killer cell proliferation leukocyte chemotaxis involved in inflammatory response adaptive immune response myeloid dendritic cell activation involved in immune response immune system process negative regulation of T cell cytokine production protein binding plasma membrane phagocytosis cell adhesion external side of plasma membrane cell surface positive regulation of macrophage chemotaxis membrane integral component of membrane regulation of vesicle fusion negative regulation of interleukin-12 production negative regulation of interleukin-6 production negative regulation of tumor necrosis factor production T-helper 1 cell cytokine production signaling receptor activity positive regulation of activated T cell proliferation identical protein binding innate immune response phagocytic vesicle positive regulation of JNK cascade lymphocyte activation regulation of catalytic activity positive regulation of ERK1 and ERK2 cascade negative regulation of interferon-gamma secretion positive regulation of interferon-gamma secretion negative regulation of CD40 signaling pathway positive regulation of dendritic cell chemotaxis uc007dpc.1 uc007dpc.2 uc007dpc.3 
ENSMUST00000015467.9 Slc39a1 ENSMUST00000015467.9 solute carrier family 39 (zinc transporter), member 1, transcript variant 1 (from RefSeq NM_013901.3) A2RTD4 ENSMUST00000015467.1 ENSMUST00000015467.2 ENSMUST00000015467.3 ENSMUST00000015467.4 ENSMUST00000015467.5 ENSMUST00000015467.6 ENSMUST00000015467.7 ENSMUST00000015467.8 NM_013901 Q99K44 Q9QZ03 S39A1_MOUSE Zip1 Zirtl uc012csu.1 uc012csu.2 uc012csu.3 Transporter for the divalent cation Zn(2+). Mediates the influx of Zn(2+) into cells from extracellular space. Reaction=Zn(2+)(in) = Zn(2+)(out); Xref=Rhea:RHEA:29351, ChEBI:CHEBI:29105; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:29352; Evidence=; Kinetic parameters: KM=1.7 uM for Zn(2+) ; Cell membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein Note=Shows a vesicular localization corresponding partially to the endoplasmic reticulum in several epithelial cell lines. Ubiquitous, except in the pancreas (PubMed:10610721, PubMed:14525987). Highest levels seen in kidney, salivary gland and placenta. Found to be developmentally regulated in the skin where it is expressed in the epidermal layer, excluding the dermis, at embryonic day 17.5 dpc but not in 10.5 dpc and 15.5 dpc. In the small intestine found toward the base of the intestinal villi from 17.5 dpc. In the pancreas, expression was detected from 17.5 dpc and no expression was found in the liver. Also expressed in osteoblasts of developing bone from 15.5 dpc. Belongs to the ZIP transporter (TC 2.A.5) family. Sequence=CAB59982.1; Type=Frameshift; Evidence=; in utero embryonic development receptor binding zinc ion transmembrane transporter activity plasma membrane ion transport zinc II ion transport membrane integral component of membrane metal ion transport metal ion transmembrane transporter activity embryonic cranial skeleton morphogenesis transmembrane transport limb development zinc II ion transmembrane transport uc012csu.1 uc012csu.2 uc012csu.3 
ENSMUST00000015481.6 Endog ENSMUST00000015481.6 endonuclease G, transcript variant 4 (from RefSeq NR_184727.1) ENSMUST00000015481.1 ENSMUST00000015481.2 ENSMUST00000015481.3 ENSMUST00000015481.4 ENSMUST00000015481.5 Endog NR_184727 Q3UN47 Q3UN47_MOUSE uc008jbk.1 uc008jbk.2 uc008jbk.3 Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence= Belongs to the DNA/RNA non-specific endonuclease family. nucleic acid binding endonuclease activity deoxyribonuclease activity nucleus mitochondrion cytosol DNA metabolic process aging response to mechanical stimulus hydrolase activity response to estradiol cellular response to oxidative stress neuron death in response to oxidative stress perikaryon metal ion binding cellular response to calcium ion cellular response to glucose stimulus cellular response to hypoxia nucleic acid phosphodiester bond hydrolysis positive regulation of hydrogen peroxide-mediated programmed cell death positive regulation of apoptotic DNA fragmentation uc008jbk.1 uc008jbk.2 uc008jbk.3 
ENSMUST00000015484.10 Cybb ENSMUST00000015484.10 cytochrome b-245, beta polypeptide (from RefSeq NM_007807.5) CY24B_MOUSE Cgd Cybb ENSMUST00000015484.1 ENSMUST00000015484.2 ENSMUST00000015484.3 ENSMUST00000015484.4 ENSMUST00000015484.5 ENSMUST00000015484.6 ENSMUST00000015484.7 ENSMUST00000015484.8 ENSMUST00000015484.9 NM_007807 Q61093 uc009spv.1 uc009spv.2 uc009spv.3 uc009spv.4 uc009spv.5 This gene encodes the heavy chain component of a heterodimeric transmembrane ion transporter composed of both a heavy and a light chain. This transporter mediates the transfer of electrons from nicotinamide adenine dinucleotide phosphate (NADPH) to oxygen to generate superoxide. This reaction is important in the innate immune response to pathogens. However, increased activity of the encoded protein also leads to the generation of reactive oxygen species that result in oxidative stress and can cause tissue damage. Conversely, loss of function of the related gene in human causes chronic granulomatous disease. Alternative splicing results in multiple transcript variants, although the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC042838.1, AK033570.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. It is the terminal component of a respiratory chain that transfers single electrons from cytoplasmic NADPH across the plasma membrane to molecular oxygen on the exterior. Also functions as a voltage-gated proton channel that mediates the H(+) currents of resting phagocytes. Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Composed of a heavy chain (beta) and a light chain (alpha). Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF1. Interacts with calprotectin (S100A8/9) (By similarity). Interacts with NRROS; the interaction is direct and impairs formation of a stable NADPH oxidase complex (PubMed:24739962). Interacts with CYBC1; CYBC1 may act as a chaperone stabilizing Cytochrome b-245 heterodimer (By similarity). Interacts with NCF2; the interaction is enhanced in the presence of GBP7 (PubMed:21551061). The CYBA-CYBB complex interacts with GBP7 (PubMed:21551061). Q61093; Q61462: Cyba; NbExp=4; IntAct=EBI-6654585, EBI-15795776; Q61093; Q8BMT4: Nrros; NbExp=4; IntAct=EBI-6654585, EBI-16102695; Cell membrane; Multi-pass membrane protein. Note=As unassembled monomer may localize to the endoplasmic reticulum. Glycosylated. Phosphorylated on Ser and Thr residues. Undergoes 'Lys-48'-linked polyubiquitination, likely by RNF145, triggering endoplasmic reticulum-associated degradation. Mutants have a very sever defect in controlling bacterial replication. voltage-gated ion channel activity protein binding nuclear envelope cytoplasm mitochondrion endoplasmic reticulum rough endoplasmic reticulum Golgi apparatus plasma membrane integral component of plasma membrane superoxide metabolic process ion transport defense response inflammatory response response to nutrient electron carrier activity membrane integral component of membrane superoxide-generating NADPH oxidase activity oxidoreductase activity heme binding electron transport chain dendrite ion transmembrane transport regulation of ion transmembrane transport response to drug positive regulation of tumor necrosis factor biosynthetic process superoxide anion generation NADPH oxidase complex neuronal cell body innate immune response phagocytic vesicle respiratory burst positive regulation of angiogenesis metal ion binding protein heterodimerization activity flavin adenine dinucleotide binding hydrogen peroxide biosynthetic process oxidation-reduction process cellular response to cadmium ion cellular response to ethanol cellular response to hypoxia perinuclear endoplasmic reticulum hypoxia-inducible factor-1alpha signaling pathway response to aldosterone cellular response to L-glutamine response to angiotensin uc009spv.1 uc009spv.2 uc009spv.3 uc009spv.4 uc009spv.5 
ENSMUST00000015486.7 Xk ENSMUST00000015486.7 X-linked Kx blood group (from RefSeq NM_023500.2) ENSMUST00000015486.1 ENSMUST00000015486.2 ENSMUST00000015486.3 ENSMUST00000015486.4 ENSMUST00000015486.5 ENSMUST00000015486.6 NM_023500 Q9QXY7 XK_MOUSE Xk Xkh Xkr1 Xrg1 uc009spq.1 uc009spq.2 uc009spq.3 Recruits the lipid transfer protein VPS13A from lipid droplets to the endoplasmic reticulum (ER) membrane. Heterodimer with Kell; disulfide-linked. Interacts with VPS13A. Endoplasmic reticulum membrane ; Multi-pass membrane protein Belongs to the XK family. cell amino acid transport cellular calcium ion homeostasis regulation of cell size cellular magnesium ion homeostasis membrane integral component of membrane regulation of axon diameter myelination skeletal muscle fiber development uc009spq.1 uc009spq.2 uc009spq.3 
ENSMUST00000015498.9 Pcolce2 ENSMUST00000015498.9 procollagen C-endopeptidase enhancer 2 (from RefSeq NM_029620.2) ENSMUST00000015498.1 ENSMUST00000015498.2 ENSMUST00000015498.3 ENSMUST00000015498.4 ENSMUST00000015498.5 ENSMUST00000015498.6 ENSMUST00000015498.7 ENSMUST00000015498.8 NM_029620 PCOC2_MOUSE Pcpe2 Q3V1K6 Q8R4W6 Q9CX06 uc009rbg.1 uc009rbg.2 uc009rbg.3 Binds to the C-terminal propeptide of types I and II procollagens and may enhance the cleavage of that propeptide by BMP1. Interacts with heparin with high affinity, and type I or II collagen. Secreted Expressed at all stages of development, with expression level decreasing from 7 to 11 dpc and more abundant levels of expression at 15 and 17 dpc. First detectable at relatively low level at 10.5 dpc in the area of the third and fourth branchial arches. At 13.5 dpc easily discernible expression seems primarily confined to the cartilage primordia of future bones. At 15.5 dpc expressed at the highest levels in skeletal elements in the interior non-ossified regions of cartilaginous structures and excluded from regions of ossification. O-glycosylated; contains sialic acid. extracellular matrix structural constituent collagen binding extracellular region heparin binding positive regulation of peptidase activity peptidase activator activity cellular response to leukemia inhibitory factor uc009rbg.1 uc009rbg.2 uc009rbg.3 
ENSMUST00000015511.15 Plxnd1 ENSMUST00000015511.15 plexin D1 (from RefSeq NM_026376.4) ENSMUST00000015511.1 ENSMUST00000015511.10 ENSMUST00000015511.11 ENSMUST00000015511.12 ENSMUST00000015511.13 ENSMUST00000015511.14 ENSMUST00000015511.2 ENSMUST00000015511.3 ENSMUST00000015511.4 ENSMUST00000015511.5 ENSMUST00000015511.6 ENSMUST00000015511.7 ENSMUST00000015511.8 ENSMUST00000015511.9 NM_026376 PLXD1_MOUSE Q3UH93 Q68HV1 uc009djn.1 uc009djn.2 Cell surface receptor for SEMA4A and for class 3 semaphorins, such as SEMA3A, SEMA3C and SEMA3E. Plays an important role in cell-cell signaling, and in regulating the migration of a wide spectrum of cell types. Regulates the migration of thymocytes in the medulla. Regulates endothelial cell migration. Plays an important role in ensuring the specificity of synapse formation. Mediates anti-angiogenic signaling in response to SEMA3E. Required for normal development of the heart and vasculature. Interacts with NRP1 and SEMA4A (PubMed:15239958, PubMed:17318185). Interacts with SH3BP1; they dissociate upon SEMA3E binding to PLXND1 allowing SH3BP1 to transduce downstream signal through RAC1 inactivation (By similarity). Cell membrane ingle-pass membrane protein Cell projection, lamellipodium membrane Detected in embryonic heart and vascular endothelium, brain, dorsal root ganglia, adrenal gland, lung mesenchyme, small intestine and in the ossification centers of vertebral bodies. Neonate lethality, due to defects in the development of the heart outflow tract and in aortic arch patterning, plus defects in peripheral vasculature. Mice also display skeletal defects, but these may be caused by defects in the embryonic vasculature. Belongs to the plexin family. angiogenesis branching involved in blood vessel morphogenesis semaphorin receptor complex outflow tract morphogenesis cardiac septum development protein binding plasma membrane integral component of plasma membrane negative regulation of cell adhesion signal transduction multicellular organism development synapse assembly regulation of cell shape membrane integral component of membrane semaphorin receptor activity protein domain specific binding lamellipodium regulation of cell migration lamellipodium membrane positive regulation of protein binding aorta development cell projection regulation of GTPase activity endothelial cell migration regulation of angiogenesis positive regulation of axonogenesis dichotomous subdivision of terminal units involved in salivary gland branching coronary vasculature development semaphorin-plexin signaling pathway semaphorin-plexin signaling pathway involved in axon guidance uc009djn.1 uc009djn.2 
ENSMUST00000015540.4 Cd83 ENSMUST00000015540.4 CD83 antigen, transcript variant 1 (from RefSeq NM_009856.4) CD83_MOUSE ENSMUST00000015540.1 ENSMUST00000015540.2 ENSMUST00000015540.3 NM_009856 O88324 uc007qgk.1 uc007qgk.2 uc007qgk.3 uc007qgk.4 uc007qgk.5 May play a significant role in antigen presentation or the cellular interactions that follow lymphocyte activation. Monomer. Membrane ; Single-pass type I membrane protein Abundantly expressed in spleen and brain, but is also detected in most tissues analyzed. external side of plasma membrane response to organic cyclic compound membrane integral component of membrane negative regulation of interleukin-4 production positive regulation of interleukin-10 production positive regulation of interleukin-2 production positive regulation of CD4-positive, alpha-beta T cell differentiation uc007qgk.1 uc007qgk.2 uc007qgk.3 uc007qgk.4 uc007qgk.5 
ENSMUST00000015576.6 Mcpt2 ENSMUST00000015576.6 mast cell protease 2 (from RefSeq NM_008571.2) ENSMUST00000015576.1 ENSMUST00000015576.2 ENSMUST00000015576.3 ENSMUST00000015576.4 ENSMUST00000015576.5 Mcpt2 NM_008571 Q541U2 Q541U2_MOUSE uc007ubk.1 uc007ubk.2 uc007ubk.3 serine-type endopeptidase activity proteolysis peptidase activity serine-type peptidase activity hydrolase activity uc007ubk.1 uc007ubk.2 uc007ubk.3 
ENSMUST00000015578.5 Gzmg ENSMUST00000015578.5 granzyme G (from RefSeq NM_010375.2) ENSMUST00000015578.1 ENSMUST00000015578.2 ENSMUST00000015578.3 ENSMUST00000015578.4 Gzmg NM_010375 Q4KL28 Q4KL28_MOUSE uc007ubq.1 uc007ubq.2 uc007ubq.3 Cytolytic granule serine-type endopeptidase activity proteolysis peptidase activity serine-type peptidase activity hydrolase activity uc007ubq.1 uc007ubq.2 uc007ubq.3 
ENSMUST00000015581.6 Gzmb ENSMUST00000015581.6 granzyme B (from RefSeq NM_013542.3) ENSMUST00000015581.1 ENSMUST00000015581.2 ENSMUST00000015581.3 ENSMUST00000015581.4 ENSMUST00000015581.5 Gzmb NM_013542 Q3TZH4 Q3TZH4_MOUSE uc007ubv.1 uc007ubv.2 uc007ubv.3 uc007ubv.4 This gene encodes a member of the granzyme subfamily of proteins, part of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by natural killer (NK) cells and cytotoxic T lymphocytes (CTLs) and proteolytically processed to generate the active protease, which induces target cell apoptosis. This protein also processes cytokines and degrades extracellular matrix proteins, and these roles are implicated in chronic inflammation and wound healing. Mice lacking a functional copy of this gene exhibit impaired immune cell-mediated cytolysis. [provided by RefSeq, Sep 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC002085.1, X04072.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164137 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## serine-type endopeptidase activity proteolysis peptidase activity serine-type peptidase activity hydrolase activity uc007ubv.1 uc007ubv.2 uc007ubv.3 uc007ubv.4 
ENSMUST00000015583.2 Ctsg ENSMUST00000015583.2 cathepsin G (from RefSeq NM_007800.2) Ctsg ENSMUST00000015583.1 NM_007800 Q059V7 Q059V7_MOUSE uc007ubn.1 uc007ubn.2 uc007ubn.3 uc007ubn.4 This gene encodes a member of the peptidase S1 (chymotrypsin) family of serine endopeptidases. The encoded preproprotein is proteolytically processed to generate a mature protein product. This product appears to play a role in host defense, including inflammation and antigen processing. Homozygous knockout mice for this gene exhibit enhanced susceptibility to bacterial and fungal infection. [provided by RefSeq, Aug 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X78544.1, BC125511.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164135, SAMN01164140 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## serine-type endopeptidase activity plasma membrane protein phosphorylation proteolysis heparin binding peptidase activity serine-type peptidase activity cytoplasmic stress granule hydrolase activity antibacterial humoral response secretory granule defense response to Gram-negative bacterium cellular response to lipopolysaccharide uc007ubn.1 uc007ubn.2 uc007ubn.3 uc007ubn.4 
ENSMUST00000015585.4 Gzmc ENSMUST00000015585.4 granzyme C, transcript variant 1 (from RefSeq NM_010371.4) ENSMUST00000015585.1 ENSMUST00000015585.2 ENSMUST00000015585.3 Gzmc NM_010371 Q0VB76 Q0VB76_MOUSE uc007ubu.1 uc007ubu.2 uc007ubu.3 uc007ubu.4 uc007ubu.5 uc007ubu.6 This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate a mature protein product. This product, expressed by activated T cells, may induce apoptosis of target cells. This gene is present in a gene cluster with other members of the granzyme subfamily on chromosome 14. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M18459.1, X12822.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## serine-type endopeptidase activity proteolysis uc007ubu.1 uc007ubu.2 uc007ubu.3 uc007ubu.4 uc007ubu.5 uc007ubu.6 
ENSMUST00000015587.9 Gzmn ENSMUST00000015587.9 granzyme N, transcript variant 2 (from RefSeq NM_153052.3) ENSMUST00000015587.1 ENSMUST00000015587.2 ENSMUST00000015587.3 ENSMUST00000015587.4 ENSMUST00000015587.5 ENSMUST00000015587.6 ENSMUST00000015587.7 ENSMUST00000015587.8 GrN Gzmn NM_153052 Q920S1 Q920S1_MOUSE uc007ubr.1 uc007ubr.2 uc007ubr.3 uc007ubr.4 Cytolytic granule serine-type endopeptidase activity cytoplasm proteolysis peptidase activity serine-type peptidase activity granzyme-mediated apoptotic signaling pathway hydrolase activity uc007ubr.1 uc007ubr.2 uc007ubr.3 uc007ubr.4 
ENSMUST00000015594.9 Mcpt8 ENSMUST00000015594.9 mast cell protease 8 (from RefSeq NM_008572.1) ENSMUST00000015594.1 ENSMUST00000015594.2 ENSMUST00000015594.3 ENSMUST00000015594.4 ENSMUST00000015594.5 ENSMUST00000015594.6 ENSMUST00000015594.7 ENSMUST00000015594.8 Mcpt8 NM_008572 Q3UWB6 Q3UWB6_MOUSE uc007ubm.1 uc007ubm.2 uc007ubm.3 uc007ubm.4 uc007ubm.5 serine-type endopeptidase activity proteolysis peptidase activity serine-type peptidase activity hydrolase activity uc007ubm.1 uc007ubm.2 uc007ubm.3 uc007ubm.4 uc007ubm.5 
ENSMUST00000015596.10 Ager ENSMUST00000015596.10 advanced glycosylation end product-specific receptor, transcript variant 1 (from RefSeq NM_007425.3) C5H3H4 C5H3H5 C5H3H7 C5H3I0 C5H7W3 C5H7W4 C5H7W5 C5H7W6 C5H7W7 C5H7W8 C5H7W9 ENSMUST00000015596.1 ENSMUST00000015596.2 ENSMUST00000015596.3 ENSMUST00000015596.4 ENSMUST00000015596.5 ENSMUST00000015596.6 ENSMUST00000015596.7 ENSMUST00000015596.8 ENSMUST00000015596.9 NM_007425 O35444 Q2PGG1 Q62151 RAGE_MOUSE Rage V5R4Y0 uc008ccx.1 uc008ccx.2 uc008ccx.3 uc008ccx.4 Cell surface pattern recognition receptor that senses endogenous stress signals with a broad ligand repertoire including advanced glycation end products, S100 proteins, high-mobility group box 1 protein/HMGB1, amyloid beta/APP oligomers, nucleic acids, phospholipids and glycosaminoglycans (PubMed:21270403, PubMed:32670276). Advanced glycosylation end products are nonenzymatically glycosylated proteins which accumulate in vascular tissue in aging and at an accelerated rate in diabetes. These ligands accumulate at inflammatory sites during the pathogenesis of various diseases, including diabetes, vascular complications, neurodegenerative disorders, and cancers and RAGE transduces their binding into pro- inflammatory responses. Upon ligand binding, uses TIRAP and MYD88 as adapters to transduce the signal ultimately leading to the induction or inflammatory cytokines IL6, IL8 and TNFalpha through activation of NF- kappa-B. Interaction with S100A12 on endothelium, mononuclear phagocytes, and lymphocytes triggers cellular activation, with generation of key pro-inflammatory mediators (By similarity). Interaction with S100B after myocardial infarction may play a role in myocyte apoptosis by activating ERK1/2 and p53/TP53 signaling (By similarity). Contributes to the translocation of amyloid-beta peptide (ABPP) across the cell membrane from the extracellular to the intracellular space in cortical neurons (PubMed:19901339). ABPP- initiated RAGE signaling, especially stimulation of p38 mitogen- activated protein kinase (MAPK), has the capacity to drive a transport system delivering ABPP as a complex with RAGE to the intraneuronal space. Participates in endothelial albumin transcytosis together with HMGB1 through the RAGE/SRC/Caveolin-1 pathway, leading to endothelial hyperpermeability (By similarity). Mediates the loading of HMGB1 in extracellular vesicles (EVs) that shuttle HMGB1 to hepatocytes by transferrin-mediated endocytosis and subsequently promote hepatocyte pyroptosis by activating the NLRP3 inflammasome (By similarity). Promotes also extracellular hypomethylated DNA (CpG DNA) uptake by cells via the endosomal route to activate inflammatory responses (By similarity). [Isoform 2]: Is able to advanced glycosylation end product (AGE)-induce nuclear factor NF-kappa-B activation. [Isoform 10]: Down-regulates receptor for advanced glycosylation end products (RAGE)-ligand induced signaling through various MAPK pathways including ERK1/2, p38 and SAPK/JNK. Significantly affects tumor cell properties through decreasing cell migration, invasion, adhesion and proliferation, and increasing cellular apoptosis. Exhibits drastic inhibition on tumorigenesis in vitro. Constitutive homodimer; disulfide-linked. Forms homooligomers (By similarity). Interacts with S100A1 and APP (PubMed:19901339). Interacts with S100B, S100A12 and S100A14 (PubMed:10399917). Interacts with TIRAP (By similarity). Interacts with HMGB1 (By similarity). Q62151; Q02956: Prkcz; NbExp=7; IntAct=EBI-6665091, EBI-642057; [Isoform 1]: Membrane; Single-pass type I membrane protein. [Isoform 2]: Secreted [Isoform 10]: Cell membrane ; Single-pass membrane protein Event=Alternative splicing; Named isoforms=13; Name=1; Synonyms=mRAGE ; IsoId=Q62151-1; Sequence=Displayed; Name=2; Synonyms=mRAGE_v1 , mRAGE_v3 , endogenous secretory receptor for AGE (esRAGE) ; IsoId=Q62151-2; Sequence=VSP_058091, VSP_058092; Name=3; Synonyms=mRAGE_v4 ; IsoId=Q62151-3; Sequence=VSP_058090; Name=4; Synonyms=mRAGE_v15 ; IsoId=Q62151-4; Sequence=VSP_058080, VSP_058090; Name=5; Synonyms=mRAGE_v14 ; IsoId=Q62151-5; Sequence=VSP_058089; Name=6; Synonyms=mRAGE_v10 ; IsoId=Q62151-6; Sequence=VSP_058087, VSP_058088; Name=7; Synonyms=mRAGE_v7 ; IsoId=Q62151-7; Sequence=VSP_058083, VSP_058086; Name=8; Synonyms=mRAGE_v11 ; IsoId=Q62151-8; Sequence=VSP_058084, VSP_058085; Name=9; Synonyms=mRAGE_v9 ; IsoId=Q62151-9; Sequence=VSP_058076, VSP_058082; Name=10; Synonyms=RAGE deletion of intracellular domain , RAGEdeltaICD , mRAGE_v20 ; IsoId=Q62151-10; Sequence=VSP_058093, VSP_058094; Name=11; Synonyms=mRAGE_v2 , mRAGE_v5 , mRAGE_v6 , mRAGE_v8 , mRAGE_v16 , mRAGE_v17 ; IsoId=Q62151-11; Sequence=VSP_058075, VSP_058081; Name=12; Synonyms=mRAGE_v13 ; IsoId=Q62151-12; Sequence=VSP_058077, VSP_058079; Name=13; Synonyms=mRAGE_v12 ; IsoId=Q62151-13; Sequence=VSP_058078; Isoform 1: Expressed at higher levels in the coronary arterioles in type 2 diabetic mice (at protein level). Endothelial cells (PubMed:18539754). Expressed in lung, kidney, brain and heart. Most prevalent isoform with the highest level in heart (PubMed:19164451). Isoform 2: Expressed in brain, lung, kidney and small intestine with the highest level in lung. Expressed in brain, lung, kidney and small intestine with the highest level in small intestine (at protein level). Detected in neurons of the cerebrum, bronchial epithelium, endothelial cells, tubular cells of kidney and epithelial cells of small intestine (at protein level). Expression is increased in the kidney of diabetic wild-type mice (at protein level), but not in the other tissues (PubMed:16503878). Expressed only in kidney. Expression is increased in the kidney of diabetic mice (PubMed:19164451). Isoform 3: Expressed in lung, kidney and heart. The second most prevalent isoform with the highest level in lung. Not expressed in brain (PubMed:19164451). Isoform 4: Expressed at very low level in lung only (PubMed:19164451). Isoform 5: Expressed at very low level in lung only (PubMed:19164451). Isoform 6: Expressed at very low level in lung only (PubMed:19164451). Isoform 7: Expressed at very low level in heart only (PubMed:19164451). Isoform 8: Expressed at very low level in lung only (PubMed:19164451). Isoform 9: Expressed at very low level in heart only (PubMed:19164451). Isoform 10: Expressed in lung, brain, heart and kidney with a very high level in kidney (PubMed:24260107). Isoform 11: Expressed in brain, kidney and heart. Not expressed in lung (PubMed:19164451). Isoform 12: Expressed at very low level in lung and kidney (PubMed:19164451). Isoform 13: Expressed at very low level in lung only (PubMed:19164451). Phosphorylated on its cytoplasmic domain by PKCzeta/PRKCZ upon ligand binding. Targeted by the ubiquitin E3 ligase subunit FBXO10 to mediate its ubiquitination and degradation. In deletion mutant mice, the elevation of serum TNF-alpha, IL6 and EDN1 and the tissue damage induced by LPS is significantly attenuated when compared with WT mice (PubMed:21270403). The lower hepatic expression of pro-inflammatory cytokines, while the activation of immune cells remains unaffected, results in improved survival after challenge with D-galactosamine (PubMed:32670276). [Isoform 7]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. [Isoform 8]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. [Isoform 9]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. [Isoform 11]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. beta-amyloid binding fibrillar center response to hypoxia microglial cell activation regulation of T cell mediated cytotoxicity negative regulation of protein phosphorylation positive regulation of protein phosphorylation negative regulation of endothelial cell proliferation protein binding extracellular region extracellular space cytoplasm cytosol plasma membrane inflammatory response negative regulation of cell adhesion JAK-STAT cascade learning or memory external side of plasma membrane basal plasma membrane cell surface glucose mediated signaling pathway positive regulation of autophagy negative regulation of endothelial cell migration positive regulation of gene expression positive regulation of epithelial to mesenchymal transition positive regulation of fibroblast migration astrocyte development positive regulation of smooth muscle cell migration membrane integral component of membrane apical plasma membrane positive regulation of signaling negative regulation of signaling cell junction positive regulation of cell migration negative regulation of cell migration axon neuron projection development negative regulation of interleukin-10 production positive regulation of interleukin-12 production negative regulation of collagen biosynthetic process positive regulation of heterotypic cell-cell adhesion signaling receptor activity positive regulation of activated T cell proliferation positive regulation of tumor necrosis factor biosynthetic process identical protein binding neuronal cell body positive regulation of apoptotic process positive regulation of JUN kinase activity positive regulation of neuron apoptotic process S100 protein binding macromolecular complex binding transcytosis positive regulation of chemokine biosynthetic process positive regulation of interleukin-6 biosynthetic process positive regulation of JNK cascade astrocyte activation positive regulation of fibroblast proliferation positive regulation of smooth muscle cell proliferation positive regulation of interleukin-1 beta biosynthetic process regulation of inflammatory response positive regulation of inflammatory response induction of positive chemotaxis positive regulation of NF-kappaB transcription factor activity regulation of DNA binding calcium ion homeostasis positive regulation of phagocytosis, engulfment positive regulation of ERK1 and ERK2 cascade high mobility group box 1 binding positive regulation of monocyte chemotactic protein-1 production protein localization to membrane modulation of age-related behavioral decline regulation of long-term synaptic potentiation negative regulation of long-term synaptic potentiation negative regulation of long term synaptic depression regulation of p38MAPK cascade positive regulation of p38MAPK cascade positive regulation of potassium ion transmembrane transporter activity positive regulation of neuron death positive regulation of NIK/NF-kappaB signaling positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process negative regulation of blood circulation positive regulation of endothelin secretion negative regulation of connective tissue replacement involved in inflammatory response wound healing advanced glycation end-product binding negative regulation of advanced glycation end-product receptor activity positive regulation of advanced glycation end-product receptor activity response to beta-amyloid cellular response to beta-amyloid positive regulation of endothelial cell apoptotic process positive regulation of reactive oxygen species metabolic process positive regulation of monocyte extravasation regulation of CD4-positive, alpha-beta T cell activation positive regulation of type B pancreatic cell apoptotic process positive regulation of dendritic cell differentiation uc008ccx.1 uc008ccx.2 uc008ccx.3 uc008ccx.4 
ENSMUST00000015605.15 Atf6b ENSMUST00000015605.15 activating transcription factor 6 beta (from RefSeq NM_017406.4) A0A0A0MQ69 A0A0A0MQ69_MOUSE Atf6b ENSMUST00000015605.1 ENSMUST00000015605.10 ENSMUST00000015605.11 ENSMUST00000015605.12 ENSMUST00000015605.13 ENSMUST00000015605.14 ENSMUST00000015605.2 ENSMUST00000015605.3 ENSMUST00000015605.4 ENSMUST00000015605.5 ENSMUST00000015605.6 ENSMUST00000015605.7 ENSMUST00000015605.8 ENSMUST00000015605.9 NM_017406 uc008cdh.1 uc008cdh.2 uc008cdh.3 uc008cdh.4 uc008cdh.5 Belongs to the bZIP family. ATF subfamily. RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleolus endoplasmic reticulum membrane regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter endomembrane system endoplasmic reticulum unfolded protein response protein-DNA complex cAMP response element binding transcription regulatory region DNA binding positive regulation of transcription from RNA polymerase II promoter RNA polymerase II transcription factor complex negative regulation of ATF6-mediated unfolded protein response positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress uc008cdh.1 uc008cdh.2 uc008cdh.3 uc008cdh.4 uc008cdh.5 
ENSMUST00000015611.14 Egfl8 ENSMUST00000015611.14 EGF-like domain 8, transcript variant 2 (from RefSeq NM_152922.4) EGFL8_MOUSE ENSMUST00000015611.1 ENSMUST00000015611.10 ENSMUST00000015611.11 ENSMUST00000015611.12 ENSMUST00000015611.13 ENSMUST00000015611.2 ENSMUST00000015611.3 ENSMUST00000015611.4 ENSMUST00000015611.5 ENSMUST00000015611.6 ENSMUST00000015611.7 ENSMUST00000015611.8 ENSMUST00000015611.9 NM_152922 Ng3 O35447 Q3UFB4 Q6GUQ1 uc008cdb.1 uc008cdb.2 uc008cdb.3 uc008cdb.4 Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6GUQ1-1; Sequence=Displayed; Name=2; IsoId=Q6GUQ1-2; Sequence=VSP_026672; Ubiquitously expressed in brain, kidney, thymus and lung. Not detected before 11.5 dpc and expression levels vary between 11.5 dpc and 15.5 dpc. receptor binding calcium ion binding extracellular region cell surface anatomical structure development in utero embryonic development uc008cdb.1 uc008cdb.2 uc008cdb.3 uc008cdb.4 
ENSMUST00000015612.14 Notch4 ENSMUST00000015612.14 notch 4 (from RefSeq NM_010929.2) A2CG28 ENSMUST00000015612.1 ENSMUST00000015612.10 ENSMUST00000015612.11 ENSMUST00000015612.12 ENSMUST00000015612.13 ENSMUST00000015612.2 ENSMUST00000015612.3 ENSMUST00000015612.4 ENSMUST00000015612.5 ENSMUST00000015612.6 ENSMUST00000015612.7 ENSMUST00000015612.8 ENSMUST00000015612.9 Int-3 Int3 NM_010929 NOTC4_MOUSE Notch4 O35442 O88314 O88316 P31695 Q62389 Q62390 Q9R1W9 Q9R1X0 uc008ccs.1 uc008ccs.2 uc008ccs.3 Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). May regulate branching morphogenesis in the developing vascular system. Heterodimer of a C-terminal fragment N(TM) and a N-terminal fragment N(EC) which are probably linked by disulfide bonds. Interacts with MAML1, MAML2 and MAML3 which act as transcriptional coactivators for NOTCH4. P31695; Q93794: sel-10; Xeno; NbExp=2; IntAct=EBI-643670, EBI-323098; Cell membrane; Single-pass type I membrane protein. [Notch 4 intracellular domain]: Nucleus. Note=Following proteolytical processing NICD is translocated to the nucleus. Highly expressed in lung, moderately in heart kidney, and at lower levels in the ovary and skeletal muscle. A very low expression is seen in the brain, intestine, liver and testis. Highly expressed in endothelial cells during embryonic development from 9.0 dpc. Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like convertase in the trans- Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible form. Cleavage results in a C-terminal fragment N(TM) and a N-terminal fragment N(EC). Following ligand binding, it is cleaved by TNF-alpha converting enzyme (TACE) to yield a membrane- associated intermediate fragment called notch extracellular truncation (NEXT). This fragment is then cleaved by presenilin dependent gamma- secretase to release a notch-derived peptide containing the intracellular domain (NICD) from the membrane. Phosphorylated. Note=Loss of the extracellular domain causes constitutive activation of the Notch protein, which leads to hyperproliferation of glandular epithelial tissues and development of mammary carcinomas. Belongs to the NOTCH family. Sequence=BAA32281.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin.; Evidence=; Sequence=BAA32283.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=BAA32284.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=BAA32285.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; branching involved in blood vessel morphogenesis morphogenesis of a branching structure endothelial cell morphogenesis vasculature development Notch binding calcium ion binding protein binding nucleus nucleoplasm endoplasmic reticulum cytosol plasma membrane regulation of transcription, DNA-templated Notch signaling pathway multicellular organism development regulation of Notch signaling pathway cell surface membrane integral component of membrane cell differentiation mammary gland development cytoplasmic vesicle regulation of protein localization signaling receptor activity endothelial cell differentiation negative regulation of endothelial cell differentiation negative regulation of Notch signaling pathway positive regulation of angiogenesis venous blood vessel morphogenesis regulation of developmental process regulation of protein processing positive regulation of aorta morphogenesis uc008ccs.1 uc008ccs.2 uc008ccs.3 
ENSMUST00000015620.7 Prrt1 ENSMUST00000015620.7 proline-rich transmembrane protein 1, transcript variant 1 (from RefSeq NM_030890.2) ENSMUST00000015620.1 ENSMUST00000015620.2 ENSMUST00000015620.3 ENSMUST00000015620.4 ENSMUST00000015620.5 ENSMUST00000015620.6 NM_030890 Ng5 O35449 PRRT1_MOUSE Prrt1 uc008cdf.1 uc008cdf.2 uc008cdf.3 Required to maintain a pool of extrasynaptic AMPA-regulated glutamate receptors (AMPAR) which is necessary for synapse development and function (PubMed:29490264). Regulates AMPAR function and synaptic transmission during development but is dispensable at mature hippocampal synapses (PubMed:29490264, PubMed:31216424). Plays a role in regulating basal phosphorylation levels of glutamate receptor GRIA1 and promotes GRIA1 and GRIA2 cell surface expression (PubMed:31216424). Component of the outer core of AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing. Cell membrane ; Single-pass type II membrane protein Synapse Expressed in the brain (at protein level) (PubMed:22632720). In brain, expressed throughout the hippocampus with weak expression in the olfactory bulb and neocortex (at protein level) (PubMed:29490264). Decreased Gria1/GluA1 and Gria2/GluA2 density at extrasynaptic sites and increased density of Gria1 at synapses (PubMed:29490264). Reduced cell surface expression of Gria1 and Gria2 (PubMed:31216424). Reduced phosphorylation of Gria1 'Ser-863' and increased phosphorylation of Gria1 'Ser-849' (PubMed:31216424). Reduced synaptic transmission in immature hippocampal neurons (PubMed:29490264). No change in basal synaptic transmission in mature hippocampal neurons (PubMed:31216424). Shown to impair tetanus-induced long-term potentiation (LTP) in 8-12 week old mice in one study (PubMed:29490264). Another study shows no effect on LTP in young mature mice at postnatal days 24-36 (PubMed:31216424). Severely impaired long- term depression (PubMed:31216424). Deficiency in cognitive learning and memory tasks (PubMed:29490264). Belongs to the CD225/Dispanin family. molecular_function plasma membrane biological_process membrane integral component of membrane cell junction synapse glutamatergic synapse integral component of postsynaptic membrane uc008cdf.1 uc008cdf.2 uc008cdf.3 
ENSMUST00000015622.8 Rnf5 ENSMUST00000015622.8 ring finger protein 5 (from RefSeq NM_019403.3) ENSMUST00000015622.1 ENSMUST00000015622.2 ENSMUST00000015622.3 ENSMUST00000015622.4 ENSMUST00000015622.5 ENSMUST00000015622.6 ENSMUST00000015622.7 NM_019403 Ng2 O35445 RNF5_MOUSE Rnf5 uc008ccy.1 uc008ccy.2 uc008ccy.3 Membrane-bound E3 ubiquitin-protein ligase that mediates ubiquitination of target proteins (PubMed:23093945). May function together with E2 ubiquitin-conjugating enzymes UBE2D1/UBCH5A and UBE2D2/UBC4 (By similarity). Mediates ubiquitination of PXN/paxillin,thereby regulating cell motility and localization of PXN/paxillin (By similarity). Mediates the 'Lys-63'-linked polyubiquitination of JKAMP thereby regulating JKAMP function by decreasing its association with components of the proteasome and ERAD; the ubiquitination appears to involve E2 ubiquitin-conjugating enzyme UBE2N (By similarity). Mediates the 'Lys-48'-linked polyubiquitination of STING1 at 'Lys-150' leading to its proteasomal degradation; the ubiquitination occurs in mitochondria after viral transfection and regulates antiviral responses (By similarity). Catalyzes ubiquitination and subsequent degradation of ATG4B, thereby inhibiting autophagy (PubMed:23093945). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Protein modification; protein ubiquitination. Interacts with PXN (By similarity). Interacts with JKAMP (PubMed:16166642). Interacts with STING1; the interaction of endogenous proteins is dependent on viral infection (By similarity). Cell membrane ; Multi-pass membrane protein Mitochondrion membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein Note=Predominantly located in the plasma membrane, with some localization occurring within cytoplasmic organelles. Mice are more resistant to lethal infections by group A Streptococcus due to increased autophagy (PubMed:23093945). Macrophages show increased autophagosomes and more efficient bacterial clearance (PubMed:23093945). Belongs to the RNF5 family. ubiquitin-protein transferase activity protein binding mitochondrion endoplasmic reticulum endoplasmic reticulum membrane ubiquitin-dependent protein catabolic process response to bacterium negative regulation of autophagy membrane integral component of membrane protein ubiquitination transferase activity ER-associated ubiquitin-dependent protein catabolic process protein destabilization mitochondrial membrane ERAD pathway identical protein binding cellular protein catabolic process ubiquitin-like protein conjugating enzyme binding macromolecular complex binding metal ion binding ubiquitin protein ligase activity protein K63-linked ubiquitination protein K48-linked ubiquitination ER-associated misfolded protein catabolic process regulation of autophagosome assembly uc008ccy.1 uc008ccy.2 uc008ccy.3 
ENSMUST00000015628.4 Fam163a ENSMUST00000015628.4 family with sequence similarity 163, member A (from RefSeq NM_177838.3) ENSMUST00000015628.1 ENSMUST00000015628.2 ENSMUST00000015628.3 F163A_MOUSE NM_177838 Q8CAA5 uc033fmn.1 uc033fmn.2 uc033fmn.3 Membrane ; Single-pass membrane protein Belongs to the FAM163 family. molecular_function cellular_component biological_process membrane integral component of membrane uc033fmn.1 uc033fmn.2 uc033fmn.3 
ENSMUST00000015663.7 2310057J18Rik ENSMUST00000015663.7 RIKEN cDNA 2310057J18 gene (from RefSeq NM_026336.3) ENSMUST00000015663.1 ENSMUST00000015663.2 ENSMUST00000015663.3 ENSMUST00000015663.4 ENSMUST00000015663.5 ENSMUST00000015663.6 LEG1H_MOUSE Leg1 NM_026336 Q8C6C9 Q8C6D2 Q8C6D6 Q8VDJ0 Q9CPV8 Q9CQ55 Q9D6S4 Q9D745 Q9D775 Q9D7F4 Q9D865 uc007esr.1 uc007esr.2 uc007esr.3 uc007esr.4 May be involved in early liver development. Secreted Belongs to the LEG1 family. Sequence=AAH21783.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAB26311.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAB26664.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; molecular_function extracellular region extracellular space multicellular organism development biological_process uc007esr.1 uc007esr.2 uc007esr.3 uc007esr.4 
ENSMUST00000015664.5 Ctsk ENSMUST00000015664.5 cathepsin K (from RefSeq NM_007802.4) Ctsk ENSMUST00000015664.1 ENSMUST00000015664.2 ENSMUST00000015664.3 ENSMUST00000015664.4 NM_007802 Q545T0 Q545T0_MOUSE uc008qjy.1 uc008qjy.2 uc008qjy.3 uc008qjy.4 This gene encodes a member of the cathepsin family of cysteine proteases that is highly expressed in osteoclasts and is involved in the degradation of collagen and other matrix proteins in bone. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional enzyme. Mice lacking the encoded protein exhibit phenotypic features of pycnodysostosis such as increased bone density and bone deformity, which become progressively more pronounced with age. [provided by RefSeq, Jan 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC046320.1, AK132648.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Reaction=Broad proteolytic activity. With small-molecule substrates and inhibitors, the major determinant of specificity is P2, which is preferably Leu, Met > Phe, and not Arg.; EC=3.4.22.38; Evidence=; Apical cell membrane ; Peripheral membrane protein ; Extracellular side Cell membrane ; Peripheral membrane protein ; Extracellular side Lysosome Secreted Belongs to the peptidase C1 family. intramembranous ossification fibronectin binding cysteine-type endopeptidase activity collagen binding extracellular space nucleoplasm cytoplasm lysosome proteolysis cysteine-type peptidase activity collagen catabolic process intracellular membrane-bounded organelle proteoglycan binding bone resorption proteolysis involved in cellular protein catabolic process uc008qjy.1 uc008qjy.2 uc008qjy.3 uc008qjy.4 
ENSMUST00000015667.9 Ctss ENSMUST00000015667.9 cathepsin S, transcript variant 1 (from RefSeq NM_001267695.2) Ctss ENSMUST00000015667.1 ENSMUST00000015667.2 ENSMUST00000015667.3 ENSMUST00000015667.4 ENSMUST00000015667.5 ENSMUST00000015667.6 ENSMUST00000015667.7 ENSMUST00000015667.8 F6WR04 F6WR04_MOUSE NM_001267695 uc008qka.1 uc008qka.2 uc008qka.3 uc008qka.4 uc008qka.5 This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. Alternative splicing results in multiple transcript variants, which encode preproproteins that are proteolytically processed to generate mature protein products. This enzyme is secreted by antigen-presenting cells during inflammation and may induce pain and itch via activation of G-protein coupled receptors. Homozygous knockout mice for this gene exhibit impaired wound healing, reduced tumorigenesis in a pancreatic cancer model, and reduced pathogenesis in a myasthenia gravis model. [provided by RefSeq, Aug 2015]. Reaction=Similar to cathepsin L, but with much less activity on Z-Phe- Arg-|-NHMec, and more activity on the Z-Val-Val-Arg-|-Xaa compound.; EC=3.4.22.27; Evidence=; Cytoplasmic vesicle, phagosome Lysosome Belongs to the peptidase C1 family. fibronectin binding adaptive immune response cysteine-type endopeptidase activity collagen binding extracellular space lysosome late endosome proteolysis peptidase activity cysteine-type peptidase activity response to acidic pH protein processing hydrolase activity collagen catabolic process basement membrane disassembly intracellular membrane-bounded organelle laminin binding proteoglycan binding antigen processing and presentation of peptide antigen proteolysis involved in cellular protein catabolic process cellular response to thyroid hormone stimulus positive regulation of cation channel activity uc008qka.1 uc008qka.2 uc008qka.3 uc008qka.4 uc008qka.5 
ENSMUST00000015712.15 Lpl ENSMUST00000015712.15 lipoprotein lipase (from RefSeq NM_008509.2) ENSMUST00000015712.1 ENSMUST00000015712.10 ENSMUST00000015712.11 ENSMUST00000015712.12 ENSMUST00000015712.13 ENSMUST00000015712.14 ENSMUST00000015712.2 ENSMUST00000015712.3 ENSMUST00000015712.4 ENSMUST00000015712.5 ENSMUST00000015712.6 ENSMUST00000015712.7 ENSMUST00000015712.8 ENSMUST00000015712.9 LIPL_MOUSE NM_008509 P11152 Q05956 Q542L4 Q9D3M9 Q9DCM8 uc009lwq.1 uc009lwq.2 uc009lwq.3 Key enzyme in triglyceride metabolism. Catalyzes the hydrolysis of triglycerides from circulating chylomicrons and very low density lipoproteins (VLDL), and thereby plays an important role in lipid clearance from the blood stream, lipid utilization and storage (PubMed:8675619). Although it has both phospholipase and triglyceride lipase activities it is primarily a triglyceride lipase with low but detectable phospholipase activity (By similarity). Mediates margination of triglyceride-rich lipoprotein particles in capillaries (PubMed:24726386). Recruited to its site of action on vascular endothelium by binding to GPIHBP1 and cell surface heparan sulfate proteoglycans (PubMed:20620994, PubMed:24726386, PubMed:27811232). Reaction=a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+); Xref=Rhea:RHEA:12044, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17855, ChEBI:CHEBI:18035, ChEBI:CHEBI:28868; EC=3.1.1.34; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn- glycero-3-phosphocholine + a fatty acid + H(+); Xref=Rhea:RHEA:18689, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28868, ChEBI:CHEBI:57643, ChEBI:CHEBI:57875; EC=3.1.1.32; Evidence=; Reaction=1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O = (9Z)- octadecenoate + di-(9Z)-octadecenoylglycerol + H(+); Xref=Rhea:RHEA:38575, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:53753, ChEBI:CHEBI:75945; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38576; Evidence=; Reaction=1,2-di-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = (9Z)-octadecenoate + (9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H(+); Xref=Rhea:RHEA:38699, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:74669, ChEBI:CHEBI:76083; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38700; Evidence=; Reaction=1,2,3-tributanoylglycerol + H2O = butanoate + dibutanoylglycerol + H(+); Xref=Rhea:RHEA:40475, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17968, ChEBI:CHEBI:35020, ChEBI:CHEBI:76478; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40476; Evidence=; Reaction=1,2-dihexadecanoyl-sn-glycero-3-phosphocholine + H2O = H(+) + hexadecanoate + hexadecanoyl-sn-glycero-3-phosphocholine; Xref=Rhea:RHEA:41384, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:64563, ChEBI:CHEBI:72999; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41385; Evidence=; The apolipoprotein APOC2 acts as a coactivator of LPL activity (By similarity). Ca(2+) binding promotes protein stability and formation of the active homodimer. Interaction with GPIHBP1 protects LPL against inactivation by ANGPTL4 (By similarity). Homodimer (PubMed:25066055). Interacts with GPIHBP1 with 1:1 stoichiometry (PubMed:17403372, PubMed:20620994, PubMed:24726386). Interacts with APOC2; the interaction activates LPL activity in the presence of lipids (By similarity). Interaction with heparan sulfate proteoglycans is required to protect LPL against loss of activity. Associates with lipoprotein particles in blood plasma (By similarity). Interacts with LMF1 and SEL1L; interaction with SEL1L is required to prevent aggregation of newly synthesized LPL in the endoplasmic reticulum (ER), and for normal export of LPL from the ER to the extracellular space (PubMed:25066055). Interacts with SORL1; SORL1 acts as a sorting receptor, promoting LPL localization to endosomes and later to lysosomes, leading to degradation of newly synthesized LPL (By similarity). Cell membrane eripheral membrane protein Extracellular side creted Secreted, extracellular space, extracellular matrix Note=Newly synthesized LPL binds to cell surface heparan proteoglycans and is then released by heparanase. Subsequently, it becomes attached to heparan proteoglycan on endothelial cells (PubMed:27811232). Locates to the plasma membrane of microvilli of hepatocytes with triglyceride-rich lipoproteins (TRL). Some of the bound LPL is then internalized and located inside non- coated endocytic vesicles (By similarity). Detected in white and brown adipose tissue and heart muscle, especially at the lumenal surface of capillaries (PubMed:25066055, PubMed:27811232, PubMed:20620994). Detected on capillary endothelium in the lactating mammary gland (PubMed:27811232). Detected in blood plasma (at protein level) (PubMed:17403372, PubMed:25066055). Expressed in liver, epididymal fat, heart, psoas muscle, lactating mammary gland, adrenal, lung, and ovary. Highest levels in heart and adrenal gland. Maximum expression in adipose tissue during early development. In heart, low levels 6 days before birth increasing 278- fold as animals reach adulthood. Tyrosine nitration after lipopolysaccharide (LPS) challenge down- regulates the lipase activity. N-glycosylated. Mice are born at the expected Mendelian rate. At birth, mutant pups have threefold higher plasma triglyceride levels and sevenfold higher VLDL cholesterol levels relative to wild-type. After suckling they become progressively pale, then cyanotic, and die at about 18 hours after birth. At 18 hours after birth, their plasma triglyceride levels reach 15'090 mg/dl, compared to 188 mg/dl for wild- type. At the same time point, VLDL cholesterol levels reach 280 mg/dl in mutant pups, compared to 6 mg/dl in wild-type. Mutant pups show severly reduced adipose tissue, and their livers are deficient in intracellular lipid droplets. Likewise, the numbers of intracellular lipid droplets in skeletal muscle are severely reduced. Lungs display lipid-filled alveoli and dilated capillaries that are engorged with lipoprotein particles. These particles are marginated and seem to block the access of red blood cells to the vascular endothelium. Belongs to the AB hydrolase superfamily. Lipase family. lipoprotein lipase activity triglyceride lipase activity receptor binding calcium ion binding protein binding extracellular region extracellular space plasma membrane lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process heparin binding response to cold response to bacterium cell surface positive regulation of macrophage derived foam cell differentiation positive regulation of cholesterol storage positive regulation of sequestering of triglyceride membrane lipid catabolic process lipase activity hydrolase activity triglyceride binding triglyceride biosynthetic process triglyceride catabolic process cellular response to nutrient apolipoprotein binding very-low-density lipoprotein particle chylomicron remodeling very-low-density lipoprotein particle remodeling response to drug chylomicron cholesterol homeostasis protein homodimerization activity heparan sulfate proteoglycan binding positive regulation of fat cell differentiation metal ion binding positive regulation of interleukin-1 beta secretion positive regulation of inflammatory response carboxylic ester hydrolase activity low-density lipoprotein particle mediated signaling triglyceride homeostasis cellular response to fatty acid lipoprotein particle binding positive regulation of chemokine secretion negative regulation of cellular response to insulin stimulus positive regulation of chemokine (C-C motif) ligand 2 secretion positive regulation of tumor necrosis factor secretion positive regulation of interleukin-6 secretion uc009lwq.1 uc009lwq.2 uc009lwq.3 
ENSMUST00000015719.16 Atp6v0e ENSMUST00000015719.16 ATPase, H+ transporting, lysosomal V0 subunit E (from RefSeq NM_025272.2) Atp6v0e1 ENSMUST00000015719.1 ENSMUST00000015719.10 ENSMUST00000015719.11 ENSMUST00000015719.12 ENSMUST00000015719.13 ENSMUST00000015719.14 ENSMUST00000015719.15 ENSMUST00000015719.2 ENSMUST00000015719.3 ENSMUST00000015719.4 ENSMUST00000015719.5 ENSMUST00000015719.6 ENSMUST00000015719.7 ENSMUST00000015719.8 ENSMUST00000015719.9 NM_025272 Q9CQD8 VA0E1_MOUSE uc008bei.1 uc008bei.2 uc008bei.3 uc008bei.4 uc008bei.5 Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex (By similarity). The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H (By similarity). The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c'', rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR (By similarity). Membrane ; Multi-pass membrane protein Belongs to the V-ATPase e1/e2 subunit family. ion transport hydrogen ion transmembrane transporter activity membrane integral component of membrane hydrolase activity proton-transporting V-type ATPase, V0 domain proton-transporting ATPase activity, rotational mechanism transmembrane transport hydrogen ion transmembrane transport uc008bei.1 uc008bei.2 uc008bei.3 uc008bei.4 uc008bei.5 
ENSMUST00000015723.5 Nkx2-5 ENSMUST00000015723.5 NK2 homeobox 5 (from RefSeq NM_008700.2) ENSMUST00000015723.1 ENSMUST00000015723.2 ENSMUST00000015723.3 ENSMUST00000015723.4 NM_008700 Nkx2-5 Q3UQU2 Q3UQU2_MOUSE uc008beo.1 uc008beo.2 uc008beo.3 Nucleus Belongs to the NK-2 homeobox family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding outflow tract septum morphogenesis cardiac conduction system development right ventricular cardiac muscle tissue morphogenesis septum secundum development DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter heart development adult heart development transcription factor binding negative regulation of cardiac muscle cell apoptotic process negative regulation of myotube differentiation thyroid gland development macromolecular complex protein-DNA complex sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of neuron differentiation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter spleen development cardiac muscle tissue morphogenesis cardiac muscle contraction ventricular septum morphogenesis atrial septum morphogenesis RNA polymerase II transcription factor complex regulation of cardiac conduction uc008beo.1 uc008beo.2 uc008beo.3 
ENSMUST00000015725.16 Bnip1 ENSMUST00000015725.16 BCL2/adenovirus E1B interacting protein 1 (from RefSeq NM_172149.5) B0V2Q1 Bnip1 ENSMUST00000015725.1 ENSMUST00000015725.10 ENSMUST00000015725.11 ENSMUST00000015725.12 ENSMUST00000015725.13 ENSMUST00000015725.14 ENSMUST00000015725.15 ENSMUST00000015725.2 ENSMUST00000015725.3 ENSMUST00000015725.4 ENSMUST00000015725.5 ENSMUST00000015725.6 ENSMUST00000015725.7 ENSMUST00000015725.8 ENSMUST00000015725.9 NM_172149 Q5M9M2 Q6QD59 SEC20_MOUSE Sec20 Sec20l uc008ben.1 uc008ben.2 uc008ben.3 uc008ben.4 As part of a SNARE complex may be involved in endoplasmic reticulum membranes fusion and be required for the maintenance of endoplasmic reticulum organization. Also plays a role in apoptosis. It is for instance required for endoplasmic reticulum stress-induced apoptosis. As a substrate of RNF185 interacting with SQSTM1, might also be involved in mitochondrial autophagy. Component of a SNARE complex consisting of STX18, USE1L, BNIP1/SEC20L and SEC22B. Interacts directly with STX18, RINT1/TIP20L and NAPA. Interacts with ZW10 through RINT1. Interacts with BCL2. Interacts with RNF186. Interacts with RNF185. Interacts with SQSTM1; increased by 'Lys-63'-linked polyubiquitination of BNIP1. Endoplasmic reticulum membrane ; Single-pass type IV membrane protein Mitochondrion membrane ; Single-pass type IV membrane protein Note=Localization to the mitochondrion is regulated by RNF186. Polyubiquitinated. 'Lys-63'-linked polyubiquitination by RNF185 increases the interaction with the autophagy receptor SQSTM1. Undergoes 'Lys-29'- and 'Lys-63'-linked polyubiquitination by RNF186 that may regulate BNIP1 localization to the mitochondrion. Belongs to the SEC20 family. SNAP receptor activity nuclear envelope cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane retrograde vesicle-mediated transport, Golgi to ER apoptotic process endoplasmic reticulum organization protein transport membrane integral component of membrane vesicle-mediated transport endoplasmic reticulum membrane fusion SNARE complex mitochondrial membrane intracellular membrane-bounded organelle uc008ben.1 uc008ben.2 uc008ben.3 uc008ben.4 
ENSMUST00000015749.7 Srf ENSMUST00000015749.7 serum response factor (from RefSeq NM_020493.2) ENSMUST00000015749.1 ENSMUST00000015749.2 ENSMUST00000015749.3 ENSMUST00000015749.4 ENSMUST00000015749.5 ENSMUST00000015749.6 NM_020493 Q9JM73 SRF_MOUSE uc008ctg.1 uc008ctg.2 uc008ctg.3 SRF is a transcription factor that binds to the serum response element (SRE), a short sequence of dyad symmetry located 300 bp to the 5' of the site of transcription initiation of some genes (such as FOS) (PubMed:24732378). Together with MRTFA transcription coactivator, controls expression of genes regulating the cytoskeleton during development, morphogenesis and cell migration (PubMed:12732141, PubMed:19350017, PubMed:24732378). The SRF-MRTFA complex activity responds to Rho GTPase-induced changes in cellular globular actin (G- actin) concentration, thereby coupling cytoskeletal gene expression to cytoskeletal dynamics (PubMed:24732378). Required for cardiac differentiation and maturation (PubMed:15169892). Binds DNA as a multimer, probably a dimer (PubMed:15492011, PubMed:16782067). Interacts with MRTFA, forming the SRF-MRTFA nuclear complex which binds the 5'-CArG-3' consensus motif (CArG box) on DNA via SRF (PubMed:12732141, PubMed:19350017). Forms a nuclear ternary complex with MRTFA and SCAI (PubMed:19350017). Interacts with MRTFB (By similarity). Interacts with MLLT7/FOXO4, NKX3A and SSRP1 (By similarity). Interacts with ARID2 (PubMed:16782067). Interacts with SRFBP1 (PubMed:15492011). Interacts with FOXK1 (By similarity). Interacts with LPXN (By similarity). Interacts with OLFM2; the interaction promotes dissociation of SRF from the transcriptional repressor HEY2, facilitates binding of SRF to target genes and promotes smooth muscle differentiation (By similarity). Interacts with NKX3-1 (PubMed:16814806). Interacts with KAT5 (PubMed:16597624). Q9JM73; Q3U1N2: Srebf2; NbExp=3; IntAct=EBI-493266, EBI-645275; Nucleus Phosphorylated by PRKDC. Mice lacking Srf in cardiac tissue display lethal cardiac defects between 10.5 and 13.5 dpc, characterized by abnormally thin myocardium, dilated cardiac chambers, poor trabeculation and a disorganised interventricular septum. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding branching involved in blood vessel morphogenesis response to hypoxia in utero embryonic development mesoderm formation neuron migration trophectodermal cell differentiation heart looping morphogenesis of an epithelial sheet cell migration involved in sprouting angiogenesis leukocyte differentiation positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus cytoplasm regulation of transcription, DNA-templated transcription from RNA polymerase II promoter actin filament organization cell-matrix adhesion multicellular organism development gastrulation heart development long-term memory transcription factor binding negative regulation of cell proliferation associative learning response to hormone epithelial structure maintenance positive regulation of transcription via serum response element binding serum response element binding hippocampus development tangential migration from the subventricular zone to the olfactory bulb actin cytoskeleton organization contractile actin filament bundle assembly regulation of cell adhesion platelet activation platelet formation negative regulation of cell migration thyroid gland development forebrain development neuron projection development chromatin DNA binding regulation of water loss via skin response to cytokine megakaryocyte development dorsal aorta morphogenesis mRNA transcription from RNA polymerase II promoter protein homodimerization activity histone deacetylase binding stress fiber assembly sequence-specific DNA binding skin morphogenesis positive thymic T cell selection sarcomere organization positive regulation of cell differentiation positive regulation of axon extension positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of smooth muscle contraction positive regulation of transcription by glucose muscle cell cellular homeostasis protein dimerization activity thymus development developmental growth erythrocyte development positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of filopodium assembly cardiac myofibril assembly hematopoietic stem cell differentiation positive regulation of transcription initiation from RNA polymerase II promoter long term synaptic depression face development heart trabecula formation lung morphogenesis bronchus cartilage development trachea cartilage development cardiac vascular smooth muscle cell differentiation eyelid development in camera-type eye lung smooth muscle development RNA polymerase II sequence-specific DNA binding transcription factor binding bicellular tight junction assembly primary miRNA binding cellular response to glucose stimulus primitive streak formation epithelial cell-cell adhesion cellular senescence cell-cell adhesion negative regulation of beta-amyloid clearance negative regulation of pri-miRNA transcription from RNA polymerase II promoter positive regulation of pri-miRNA transcription from RNA polymerase II promoter uc008ctg.1 uc008ctg.2 uc008ctg.3 
ENSMUST00000015771.3 Gata5 ENSMUST00000015771.3 GATA binding protein 5 (from RefSeq NM_008093.2) ENSMUST00000015771.1 ENSMUST00000015771.2 GATA5_MOUSE Gata5 NM_008093 P97489 Q3UQR0 uc008oix.1 uc008oix.2 uc008oix.3 uc008oix.4 Transcription factor required during cardiovascular development (By similarity). Plays an important role in the transcriptional program(s) that underlies smooth muscle cell diversity (PubMed:9119112). Binds to the functionally important CEF-1 nuclear protein binding site in the cardiac-specific slow/cardiac troponin C transcriptional enhancer (By similarity). Nucleus. nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding enhancer sequence-specific DNA binding aortic valve morphogenesis endocardial cushion fusion DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated zinc ion binding negative regulation of cardiac muscle hypertrophy positive regulation of gene expression negative regulation of gene expression positive regulation of Notch signaling pathway involved in heart induction sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding cardiac muscle tissue development intestinal epithelial cell differentiation cellular response to BMP stimulus positive regulation of transcription from RNA polymerase II promoter involved in heart development cardiac jelly development uc008oix.1 uc008oix.2 uc008oix.3 uc008oix.4 
ENSMUST00000015791.6 Lama5 ENSMUST00000015791.6 laminin, alpha 5 (from RefSeq NM_001081171.2) A2ABW7 ENSMUST00000015791.1 ENSMUST00000015791.2 ENSMUST00000015791.3 ENSMUST00000015791.4 ENSMUST00000015791.5 LAMA5_MOUSE NM_001081171 Q61001 Q9JHQ6 uc008oip.1 uc008oip.2 Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Alpha-5 may be the major laminin alpha chain of adult epithelial and/or endothelial basal laminae. Plays a role in the regulation of skeletogenesis, through a mechanism that involves integrin-mediated signaling and PTK2B/PYK2 (By similarity). Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Alpha-5 is a subunit of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component. In adult, high levels in heart, lung, and kidney; lower in brain, muscle and testis; very low in liver, gut and skin. Expressed in the mesentery lymphatic vessel valves at 15.5 and 18.5 dpc (at protein level). The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure. Domains VI, IV and G are globular. branching involved in ureteric bud morphogenesis morphogenesis of a polarized epithelium neural crest cell migration hair follicle development receptor binding integrin binding extracellular matrix structural constituent protein binding extracellular region basement membrane laminin-5 complex extracellular space cell adhesion integrin-mediated signaling pathway muscle organ development animal organ morphogenesis tissue development morphogenesis of embryonic epithelium cell migration regulation of cell adhesion lung development regulation of cell migration extracellular matrix neuromuscular junction substrate adhesion-dependent cell spreading regulation of cell proliferation odontogenesis of dentin-containing tooth synaptic cleft laminin-10 complex regulation of embryonic development branching morphogenesis of an epithelial tube cilium assembly branching involved in salivary gland morphogenesis protein localization to plasma membrane cell-cell adhesion uc008oip.1 uc008oip.2 
ENSMUST00000015796.9 Steap1 ENSMUST00000015796.9 six transmembrane epithelial antigen of the prostate 1 (from RefSeq NM_027399.3) ENSMUST00000015796.1 ENSMUST00000015796.2 ENSMUST00000015796.3 ENSMUST00000015796.4 ENSMUST00000015796.5 ENSMUST00000015796.6 ENSMUST00000015796.7 ENSMUST00000015796.8 NM_027399 Q6P8X4 Q9CWR7 STEA1_MOUSE Steap uc008wjb.1 uc008wjb.2 uc008wjb.3 uc008wjb.4 Does not function as a metalloreductase due to the absence of binding sites for the electron-donating substrate NADPH. Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Name=heme b; Xref=ChEBI:CHEBI:60344; Evidence=; Homotrimer. Endosome membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein Belongs to the STEAP family. endosome plasma membrane ion transport endosome membrane membrane integral component of membrane oxidoreductase activity metal ion binding iron ion homeostasis oxidation-reduction process cupric reductase activity copper ion import oxidoreductase activity, oxidizing metal ions, NAD or NADP as acceptor ferric-chelate reductase (NADPH) activity ferric iron import across plasma membrane uc008wjb.1 uc008wjb.2 uc008wjb.3 uc008wjb.4 
ENSMUST00000015800.16 Hspa8 ENSMUST00000015800.16 heat shock protein 8, transcript variant 1 (from RefSeq NM_031165.5) ENSMUST00000015800.1 ENSMUST00000015800.10 ENSMUST00000015800.11 ENSMUST00000015800.12 ENSMUST00000015800.13 ENSMUST00000015800.14 ENSMUST00000015800.15 ENSMUST00000015800.2 ENSMUST00000015800.3 ENSMUST00000015800.4 ENSMUST00000015800.5 ENSMUST00000015800.6 ENSMUST00000015800.7 ENSMUST00000015800.8 ENSMUST00000015800.9 HSP7C_MOUSE Hsc70 Hsc73 Hspa8 NM_031165 P08109 P12225 P63017 Q3U6R0 Q3U764 Q3U7D7 Q3U7E2 Q3U9B4 Q3U9G0 Q3UGM0 Q5FWJ6 Q62373 Q62374 Q62375 Q6NZD0 uc009ozx.1 uc009ozx.2 uc009ozx.3 uc009ozx.4 uc009ozx.5 Molecular chaperone implicated in a wide variety of cellular processes, including protection of the proteome from stress, folding and transport of newly synthesized polypeptides, chaperone-mediated autophagy, activation of proteolysis of misfolded proteins, formation and dissociation of protein complexes, and antigen presentation. Plays a pivotal role in the protein quality control system, ensuring the correct folding of proteins, the re-folding of misfolded proteins and controlling the targeting of proteins for subsequent degradation. This is achieved through cycles of ATP binding, ATP hydrolysis and ADP release, mediated by co-chaperones. The co-chaperones have been shown to not only regulate different steps of the ATPase cycle of HSP70, but they also have an individual specificity such that one co-chaperone may promote folding of a substrate while another may promote degradation. The affinity of HSP70 for polypeptides is regulated by its nucleotide bound state. In the ATP-bound form, it has a low affinity for substrate proteins. However, upon hydrolysis of the ATP to ADP, it undergoes a conformational change that increases its affinity for substrate proteins. HSP70 goes through repeated cycles of ATP hydrolysis and nucleotide exchange, which permits cycles of substrate binding and release. The HSP70-associated co-chaperones are of three types: J- domain co-chaperones HSP40s (stimulate ATPase hydrolysis by HSP70), the nucleotide exchange factors (NEF) such as BAG1/2/3 (facilitate conversion of HSP70 from the ADP-bound to the ATP-bound state thereby promoting substrate release), and the TPR domain chaperones such as HOPX and STUB1. Plays a critical role in mitochondrial import, delivers preproteins to the mitochondrial import receptor TOMM70. Acts as a repressor of transcriptional activation. Inhibits the transcriptional coactivator activity of CITED1 on Smad-mediated transcription. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. May have a scaffolding role in the spliceosome assembly as it contacts all other components of the core complex. Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes. Substrate recognition component in chaperone- mediated autophagy (CMA), a selective protein degradation process that mediates degradation of proteins with a -KFERQ motif: HSPA8/HSC70 specifically recognizes and binds cytosolic proteins bearing a -KFERQ motif and promotes their recruitment to the surface of the lysosome where they bind to lysosomal protein LAMP2. KFERQ motif-containing proteins are eventually transported into the lysosomal lumen where they are degraded. In conjunction with LAMP2, facilitates MHC class II presentation of cytoplasmic antigens by guiding antigens to the lysosomal membrane for interaction with LAMP2 which then elicits MHC class II presentation of peptides to the cell membrane. Participates in the ER-associated degradation (ERAD) quality control pathway in conjunction with J domain-containing co-chaperones and the E3 ligase STUB1. Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.10; Evidence=; Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs (By similarity). Interacts with PACRG (By similarity). Interacts with DNAJC7 (By similarity). Interacts with DNAJB12 (via J domain) (By similarity). Interacts with DNAJB14 (via J domain) (By similarity). Interacts (via C-terminus) with the E3 ligase STUB1 forming a 210 kDa complex of one STUB1 and two HSPA8 molecules (By similarity). Interacts with CITED1 (via N-terminus); the interaction suppresses the association of CITED1 to p300/CBP and Smad- mediated transcription transactivation (By similarity). Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8 (By similarity). Interacts with IRAK1BP1 and HSPH1/HSP105 (PubMed:9675148, PubMed:15292236, PubMed:17233114). Interacts with TRIM5 (By similarity). Part of a complex composed at least of ASH2L, EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity (By similarity). Following LPS binding, may form a complex with CXCR4, GDF5 and HSP90AA1 (By similarity). Interacts with PRKN (By similarity). Interacts with FOXP3 (By similarity). Interacts with DNAJC9 (via J domain) (By similarity). Interacts with MLLT11 (By similarity). Interacts with RNF207 (By similarity). Interacts with DNAJC21 (By similarity). Interacts with DNAJB2 (By similarity). Interacts with TTC1 (via TPR repeats) (By similarity). Interacts with SGTA (via TPR repeats) (By similarity). Interacts with HSF1 (via transactivation domain) (By similarity). Interacts with HOPX, STUB1, HSP40, HSP90, BAG2 and BAG3 (By similarity). Interacts with DNAJC12 (By similarity). Interacts with HSPC138 (By similarity). Interacts with ZMYND10 (By similarity). Interacts with VGF-derived peptide TLQP-21 (By similarity). Interacts with BCL2L1, GIMAP5 and MCL1; the interaction with BCL2L1 or MCL1 is impaired in the absence of GIMAP5 (PubMed:21502331). Interacts with NLPR12 (By similarity). Interacts with TTC4 (By similarity). Interacts with TOMM70; the interaction is required for preprotein mitochondrial import (By similarity). May interact with DNJC9; the interaction seems to be histone-dependent (By similarity). Interacts with BAG5 and JPH2; the interaction with JPH2 is increased in the presence of BAG5 (By similarity). Interacts with VGF- derived peptide TLQP-21 (By similarity). P63017; O88447: Klc1; NbExp=3; IntAct=EBI-433443, EBI-301550; P63017; P43883: Plin2; NbExp=3; IntAct=EBI-433443, EBI-16156700; P63017; Q9DBG5: Plin3; NbExp=2; IntAct=EBI-433443, EBI-643495; P63017; O41974: GAMMAHV.ORF73; Xeno; NbExp=3; IntAct=EBI-433443, EBI-6933128; Cytoplasm Melanosome Nucleus, nucleolus Cell membrane Lysosome membrane ; Peripheral membrane protein ; Cytoplasmic side Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Translocates rapidly from the cytoplasm to the nuclei, and especially to the nucleoli, upon heat shock. Ubiquitous. Constitutively synthesized. The N-terminal nucleotide binding domain (NBD) (also known as the ATPase domain) is responsible for binding and hydrolyzing ATP. The C-terminal substrate-binding domain (SBD) (also known as peptide- binding domain) binds to the client/substrate proteins. The two domains are allosterically coupled so that, when ATP is bound to the NBD, the SBD binds relatively weakly to clients. When ADP is bound in the NBD, a conformational change enhances the affinity of the SBD for client proteins. Acetylated. ISGylated. Trimethylation at Lys-561 reduces fibrillar SNCA binding. Belongs to the heat shock protein 70 family. Sequence=BAE31508.1; Type=Frameshift; Evidence=; nucleotide binding Prp19 complex G-protein coupled receptor binding phosphatidylserine binding positive regulation of T cell mediated cytotoxicity photoreceptor inner segment RNA binding receptor binding protein binding ATP binding nucleus spliceosomal complex nucleolus cytoplasm lysosome lysosomal membrane late endosome autophagosome cytosol microtubule intermediate filament plasma membrane mRNA processing protein folding protein import into nucleus response to unfolded protein synaptic vesicle axo-dendritic transport transcription factor binding RNA splicing cell surface positive regulation of gene expression negative regulation of cardiac muscle cell apoptotic process postsynaptic density membrane vesicle-mediated transport ATPase activity enzyme binding axon dendrite protein binding, bridging heat shock protein binding ubiquitin protein ligase binding regulation of protein stability A1 adenosine receptor binding asymmetric synapse macromolecular complex cellular response to heat cellular response to unfolded protein protein refolding peptide binding melanosome ATPase activity, coupled neuron projection neuronal cell body positive regulation of catalytic activity terminal bouton dendritic spine dendritic shaft perikaryon myelin sheath ADP binding cellular protein complex disassembly protein binding involved in protein folding neuron spine modulation by host of viral process positive regulation by host of viral genome replication membrane raft positive regulation of proteolysis negative regulation of transcription, DNA-templated ATP metabolic process protein autophosphorylation positive regulation of mRNA splicing, via spliceosome perinuclear region of cytoplasm positive regulation of phagocytosis unfolded protein binding chaperone mediated protein folding requiring cofactor chaperone binding regulation of cell cycle misfolded protein binding C3HC4-type RING finger domain binding chaperone-mediated protein folding regulation of protein complex stability chaperone-mediated autophagy late endosomal microautophagy protein targeting to lysosome involved in chaperone-mediated autophagy chaperone-mediated protein transport involved in chaperone-mediated autophagy extracellular exosome clathrin coat disassembly positive regulation of lysosomal membrane permeability presynapse postsynapse maintenance of postsynaptic specialization structure glutamatergic synapse presynaptic cytosol postsynaptic cytosol postsynaptic specialization membrane negative regulation of supramolecular fiber organization positive regulation of protein refolding prostaglandin binding chaperone-mediated autophagy translocation complex disassembly messenger ribonucleoprotein complex slow axonal transport clathrin-uncoating ATPase activity lysosomal matrix ribonucleoprotein complex uc009ozx.1 uc009ozx.2 uc009ozx.3 uc009ozx.4 uc009ozx.5 
ENSMUST00000015812.12 Pdzd11 ENSMUST00000015812.12 Mediates docking of ADAM10 to zonula adherens by interacting with PLEKHA7 which is required for PLEKHA7 to interact with the ADAM10- binding protein TSPAN33. (from UniProt Q9CZG9) BC022181 ENSMUST00000015812.1 ENSMUST00000015812.10 ENSMUST00000015812.11 ENSMUST00000015812.2 ENSMUST00000015812.3 ENSMUST00000015812.4 ENSMUST00000015812.5 ENSMUST00000015812.6 ENSMUST00000015812.7 ENSMUST00000015812.8 ENSMUST00000015812.9 PDZ11_MOUSE Pdzk11 Q9CZG9 uc009twf.1 uc009twf.2 uc009twf.3 Mediates docking of ADAM10 to zonula adherens by interacting with PLEKHA7 which is required for PLEKHA7 to interact with the ADAM10- binding protein TSPAN33. Interacts with ATP2B1, ATP2B2, ATP2B3, ATP2B4 and ATP7A (By similarity). Interacts with PLEKHA7 (via WW domains) at zonula adherens; this interaction is essential for the interaction between PLEKHA7 and the ADAM10-binding protein TSPAN33 (PubMed:30463011). Interacts with SLC5A6 (By similarity). Cytoplasm Cell junction, adherens junction Cell membrane cytoplasm cytosol plasma membrane cell-cell junction adherens junction neurotransmitter secretion protein C-terminus binding membrane basolateral plasma membrane cell junction maintenance of epithelial cell apical/basal polarity synapse pore complex pore complex assembly presynapse protein localization to basolateral plasma membrane uc009twf.1 uc009twf.2 uc009twf.3 
ENSMUST00000015829.15 Acadsb ENSMUST00000015829.15 acyl-Coenzyme A dehydrogenase, short/branched chain (from RefSeq NM_025826.4) ACDSB_MOUSE Acadsb ENSMUST00000015829.1 ENSMUST00000015829.10 ENSMUST00000015829.11 ENSMUST00000015829.12 ENSMUST00000015829.13 ENSMUST00000015829.14 ENSMUST00000015829.2 ENSMUST00000015829.3 ENSMUST00000015829.4 ENSMUST00000015829.5 ENSMUST00000015829.6 ENSMUST00000015829.7 ENSMUST00000015829.8 ENSMUST00000015829.9 NM_025826 Q9DBL1 uc009kbm.1 uc009kbm.2 uc009kbm.3 uc009kbm.4 Short and branched chain specific acyl-CoA dehydrogenase that catalyzes the removal of one hydrogen from C-2 and C-3 of the fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA. Among the different mitochondrial acyl-CoA dehydrogenases, acts specifically on short and branched chain acyl-CoA derivatives such as (S)-2-methylbutyryl-CoA as well as short straight chain acyl-CoAs such as butyryl-CoA (By similarity). Plays an important role in the metabolism of L-isoleucine by catalyzing the dehydrogenation of 2- methylbutyryl-CoA, one of the steps of the L-isoleucine catabolic pathway (By similarity). Can also act on valproyl-CoA, a metabolite of the valproic acid drug (By similarity). Reaction=2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylbut-2-enoyl-CoA + reduced [electron- transfer flavoprotein]; Xref=Rhea:RHEA:43780, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57336, ChEBI:CHEBI:57337, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307; EC=1.3.8.5; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43781; Evidence=; Reaction=(2S)-2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylbut-2-enoyl-CoA + reduced [electron- transfer flavoprotein]; Xref=Rhea:RHEA:48256, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57337, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:88166; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48257; Evidence=; Reaction=(2R)-2-methylbutanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = ethylacryloyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:65296, Rhea:RHEA-COMP:10685, Rhea:RHEA- COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:156439, ChEBI:CHEBI:156440; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:65297; Evidence=; Reaction=butanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-butenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:24004, Rhea:RHEA-COMP:10685, Rhea:RHEA- COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57332, ChEBI:CHEBI:57371, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:24005; Evidence=; Reaction=2-methylpropanoyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = (2E)-2-methylpropenoyl-CoA + reduced [electron- transfer flavoprotein]; Xref=Rhea:RHEA:44180, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57338, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:62500; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:44181; Evidence=; Reaction=H(+) + hexanoyl-CoA + oxidized [electron-transfer flavoprotein] = (2E)-hexenoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:43464, Rhea:RHEA-COMP:10685, Rhea:RHEA- COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:62077, ChEBI:CHEBI:62620; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43465; Evidence=; Reaction=H(+) + oxidized [electron-transfer flavoprotein] + valproyl- CoA = (2E)-2-propylpent-2-enoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:65344, Rhea:RHEA-COMP:10685, Rhea:RHEA- COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:156457, ChEBI:CHEBI:156458; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:65345; Evidence=; Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Lipid metabolism; mitochondrial fatty acid beta-oxidation. Amino-acid degradation; L-isoleucine degradation. Homotetramer. Mitochondrion matrix Belongs to the acyl-CoA dehydrogenase family. acyl-CoA dehydrogenase activity mitochondrion mitochondrial matrix lipid metabolic process fatty acid metabolic process acyl-CoA metabolic process electron carrier activity oxidoreductase activity oxidoreductase activity, acting on the CH-CH group of donors short-branched-chain-acyl-CoA dehydrogenase activity electron transport chain flavin adenine dinucleotide binding oxidation-reduction process uc009kbm.1 uc009kbm.2 uc009kbm.3 uc009kbm.4 
ENSMUST00000015846.9 Anxa9 ENSMUST00000015846.9 annexin A9, transcript variant 2 (from RefSeq NM_023628.3) ANXA9_MOUSE ENSMUST00000015846.1 ENSMUST00000015846.2 ENSMUST00000015846.3 ENSMUST00000015846.4 ENSMUST00000015846.5 ENSMUST00000015846.6 ENSMUST00000015846.7 ENSMUST00000015846.8 NM_023628 Q9CQS1 Q9JHQ0 uc008qjh.1 uc008qjh.2 uc008qjh.3 uc008qjh.4 May act as a low affinity receptor for acetylcholine. Homodimer. Belongs to the annexin family. Sequence=CAB95698.1; Type=Frameshift; Evidence=; angiogenesis membrane raft assembly phosphatidylserine binding positive regulation of receptor recycling positive regulation of protein phosphorylation protease binding growth plate cartilage development calcium channel activity calcium ion binding phospholipid binding calcium-dependent phospholipid binding phosphatidylinositol-4,5-bisphosphate binding extracellular space nucleus cytoplasm cytosol plasma membrane membrane budding synaptic transmission, cholinergic cell surface regulation of plasminogen activation acetylcholine receptor activity Rab GTPase binding phospholipase A2 inhibitor activity collagen fibril organization biomineral tissue development positive regulation of vesicle fusion vesicle positive regulation of chondrocyte differentiation negative regulation of low-density lipoprotein particle receptor catabolic process osteoclast development fibrinolysis identical protein binding negative regulation of catalytic activity positive regulation of vacuole organization negative regulation of development of symbiont involved in interaction with host S100 protein binding bone sialoprotein binding virion binding positive regulation of fibroblast proliferation protein heterotetramerization regulation of cytosolic calcium ion concentration positive regulation of calcium ion transport catabolism by host of symbiont protein negative regulation by host of symbiont molecular function endocardial cell differentiation calcium ion transmembrane transport protein localization to plasma membrane cell-cell adhesion voltage-gated calcium channel activity involved in regulation of cytosolic calcium levels positive regulation of low-density lipoprotein particle clearance positive regulation of low-density lipoprotein particle receptor binding positive regulation of low-density lipoprotein receptor activity positive regulation of receptor-mediated endocytosis involved in cholesterol transport uc008qjh.1 uc008qjh.2 uc008qjh.3 uc008qjh.4 
ENSMUST00000015855.8 Prune1 ENSMUST00000015855.8 prune exopolyphosphatase (from RefSeq NM_173347.2) ENSMUST00000015855.1 ENSMUST00000015855.2 ENSMUST00000015855.3 ENSMUST00000015855.4 ENSMUST00000015855.5 ENSMUST00000015855.6 ENSMUST00000015855.7 NM_173347 PRUN1_MOUSE Prune Q80VU0 Q8BIW1 uc008qiz.1 uc008qiz.2 Phosphodiesterase (PDE) that has higher activity toward cAMP than cGMP, as substrate. Plays a role in cell proliferation, migration and differentiation, and acts as a negative regulator of NME1. Plays a role in the regulation of neurogenesis. Involved in the regulation of microtubule polymerization. Reaction=diphosphate + H2O = H(+) + 2 phosphate; Xref=Rhea:RHEA:24576, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:43474; EC=3.6.1.1; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 manganese ions per subunit. ; Activated by magnesium ions and inhibited by manganese ions. Inhibited by dipyridamole, moderately sensitive to IBMX and inhibited by vinpocetine (By similarity). Homooligomer. Able to homodimerize via its C-terminal domain. Interacts with NME1. Interacts with GSK3; at focal adhesion complexes where paxillin and vinculin are colocalized. Interacts with alpha and beta tubulin. Cytoplasm Nucleus Cell junction, focal adhesion In the developing embryo, a high level of expression is confined to the nervous system particularly in the dorsal root ganglia, cranial nerves, and neural retina. From 10.5 dpc, expressed at low levels in the basal plate along the entire neural tube, while at 12.5 dpc the expression in the nervous system is definitively stronger, especially in the cranial and dorsal root ganglia and in the spinal nerves. In the hypothalamus, the expression is confined to the retro-chiasmatic area (RCH) and is also detectable in the remnant of the Rathke's pouch. In the developing eye, exclusively expressed in the prospective neural retina, equally distributed in both the deep and superficial layers. At 16.5 dpc, expression is still detectable in the outer neuroblast layer of the neural retina. Belongs to the PPase class C family. Prune subfamily. exopolyphosphatase activity inorganic diphosphatase activity nucleus cytoplasm cytosol focal adhesion polyphosphate catabolic process tubulin binding dephosphorylation pyrophosphatase activity hydrolase activity phosphatase activity cell junction regulation of microtubule polymerization metal ion binding regulation of neurogenesis uc008qiz.1 uc008qiz.2 
ENSMUST00000015858.12 Cers2 ENSMUST00000015858.12 ceramide synthase 2, transcript variant 1 (from RefSeq NM_029789.2) CERS2_MOUSE Cers2 ENSMUST00000015858.1 ENSMUST00000015858.10 ENSMUST00000015858.11 ENSMUST00000015858.2 ENSMUST00000015858.3 ENSMUST00000015858.4 ENSMUST00000015858.5 ENSMUST00000015858.6 ENSMUST00000015858.7 ENSMUST00000015858.8 ENSMUST00000015858.9 Lass2 NM_029789 Q3TXC5 Q924Z4 Q9DCN6 Trh3 uc008qjj.1 uc008qjj.2 uc008qjj.3 uc008qjj.4 Ceramide synthase that catalyzes the transfer of the acyl chain from acyl-CoA to a sphingoid base, with high selectivity toward very-long-chain fatty acyl-CoA (chain length C22-C27) (PubMed:15823095, PubMed:18165233, PubMed:20110363, PubMed:23275342). N-acylates sphinganine and sphingosine bases to form dihydroceramides and ceramides in de novo synthesis and salvage pathways, respectively (PubMed:15823095, PubMed:18165233, PubMed:20110363, PubMed:23275342). Plays a non-redundant role in the synthesis of ceramides with very- long-chain fatty acids in kidney, liver and brain. Regulates the abundance of myelin-specific sphingolipids galactosylceramide and sulfatide that affects myelin sheath architecture and motor neuron functions (PubMed:19801672, PubMed:32279995). Reaction=a sphingoid base + a very long-chain fatty acyl-CoA = an N- (very-long-chain fatty acyl)-sphingoid base + CoA + H(+); Xref=Rhea:RHEA:61480, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:84410, ChEBI:CHEBI:138261, ChEBI:CHEBI:144712; EC=2.3.1.297; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61481; Evidence= Reaction=docosanoyl-CoA + sphinganine = CoA + H(+) + N- docosanoylsphinganine; Xref=Rhea:RHEA:36535, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:65059, ChEBI:CHEBI:67021; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36536; Evidence= Reaction=sphinganine + tetracosanoyl-CoA = CoA + H(+) + N- tetracosanoylsphinganine; Xref=Rhea:RHEA:33591, ChEBI:CHEBI:15378, ChEBI:CHEBI:52961, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:65052; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:33592; Evidence=; Reaction=hexacosanoyl-CoA + sphinganine = CoA + H(+) + N- hexacosanoylsphinganine; Xref=Rhea:RHEA:33351, ChEBI:CHEBI:15378, ChEBI:CHEBI:52962, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:64868; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:33352; Evidence= Reaction=(15Z)-tetracosenoyl-CoA + sphinganine = CoA + H(+) + N-(15Z- tetracosenoyl)-sphinganine; Xref=Rhea:RHEA:36667, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:74128, ChEBI:CHEBI:74130; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36668; Evidence=; Reaction=2-hydroxytetracosanoyl-CoA + sphinganine = CoA + H(+) + N-(2- hydroxytetracosanoyl)-sphinganine; Xref=Rhea:RHEA:36627, ChEBI:CHEBI:15378, ChEBI:CHEBI:52371, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:74118; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36628; Evidence=; Reaction=2-hydroxydocosanoyl-CoA + sphinganine = CoA + H(+) + N-(2- hydroxydocosanoyl)-sphinganine; Xref=Rhea:RHEA:36619, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:67023, ChEBI:CHEBI:74117; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36620; Evidence=; Reaction=2-hydroxytetracosenoyl-CoA + sphinganine = CoA + H(+) + N-(2- hydroxytetracosenoyl)-sphinganine; Xref=Rhea:RHEA:36767, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:74215, ChEBI:CHEBI:74216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36768; Evidence=; Reaction=sphinganine + tetracosenoyl-CoA = an N- tetracosenoylsphinganine + CoA + H(+); Xref=Rhea:RHEA:36715, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:74146, ChEBI:CHEBI:74160; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36716; Evidence=; Reaction=hexacosenoyl-CoA + sphinganine = CoA + H(+) + N- hexacosenoylsphinganine; Xref=Rhea:RHEA:36719, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57817, ChEBI:CHEBI:74161, ChEBI:CHEBI:74162; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36720; Evidence=; Reaction=sphing-4-enine + tetracosanoyl-CoA = CoA + H(+) + N- tetracosanoyl-sphing-4-enine; Xref=Rhea:RHEA:37115, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57756, ChEBI:CHEBI:65052, ChEBI:CHEBI:72965; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37116; Evidence=; Reaction=sphing-4-enine + tetracosenoyl-CoA = CoA + H(+) + N- (tetracosenoyl)-sphing-4-enine; Xref=Rhea:RHEA:37123, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57756, ChEBI:CHEBI:74146, ChEBI:CHEBI:74457; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37124; Evidence=; Reaction=heptadecasphing-4-enine + tetracosanoyl-CoA = CoA + H(+) + N- tetracosanoyl-heptadecasphing-4-enine; Xref=Rhea:RHEA:36739, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:65052, ChEBI:CHEBI:74166, ChEBI:CHEBI:74167; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36740; Evidence=; Reaction=a fatty acyl-CoA + sphing-4-enine = an N-acylsphing-4-enine + CoA + H(+); Xref=Rhea:RHEA:23768, ChEBI:CHEBI:15378, ChEBI:CHEBI:52639, ChEBI:CHEBI:57287, ChEBI:CHEBI:57756, ChEBI:CHEBI:77636; EC=2.3.1.24; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:23769; Evidence=; Reaction=hexadecanoyl-CoA + sphing-4-enine = CoA + H(+) + N- hexadecanoylsphing-4-enine; Xref=Rhea:RHEA:36687, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:57756, ChEBI:CHEBI:72959; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36688; Evidence=; Reaction=octadecanoyl-CoA + sphing-4-enine = CoA + H(+) + N- octadecanoylsphing-4-enine; Xref=Rhea:RHEA:36691, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:57756, ChEBI:CHEBI:72961; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36692; Evidence=; Reaction=eicosanoyl-CoA + sphing-4-enine = CoA + H(+) + N-eicosanoyl- sphing-4-enine; Xref=Rhea:RHEA:45284, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380, ChEBI:CHEBI:57756, ChEBI:CHEBI:72962; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45285; Evidence=; Reaction=hexadecanoyl-CoA + sphinganine = CoA + H(+) + N- hexadecanoylsphinganine; Xref=Rhea:RHEA:36539, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:57817, ChEBI:CHEBI:67042; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36540; Evidence=; Reaction=octadecanoyl-CoA + sphinganine = CoA + H(+) + N- (octadecanoyl)-sphinganine; Xref=Rhea:RHEA:36547, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:57817, ChEBI:CHEBI:67033; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36548; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + sphinganine = CoA + H(+) + N-(9Z- octadecenoyl)-sphinganine; Xref=Rhea:RHEA:36575, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:57817, ChEBI:CHEBI:74100; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36576; Evidence=; Reaction=eicosanoyl-CoA + sphinganine = CoA + H(+) + N- eicosanoylsphinganine; Xref=Rhea:RHEA:36555, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380, ChEBI:CHEBI:57817, ChEBI:CHEBI:67027; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36556; Evidence=; Ceramide synthase activity is inhibited by sphingosine-1-phosphate. Lipid metabolism; sphingolipid metabolism. Interacts with ATP6V0C, ASGR1, ASGR2 and SLC22A1/OCT1. Interacts with ELOV1, HSD17B12 and TECR (By similarity). Interacts with NDUFS2 (PubMed:32279995). Endoplasmic reticulum membrane ; Multi-pass membrane protein Broadly expressed, with highest levels in liver and kidney (PubMed:15823095, PubMed:18165233, PubMed:19801672). In brain is detected in neurons, oligodentrocytes, ependymal cells and epithelial cells of the choroid plexus. In kidney is detected in collecting ducts and to a lesser degree in proximal tubules. The last loop motif confers selectivity toward behenoyl-CoA (docosanoyl-CoA; C22:0-CoA) and lignoceroyl-CoA (tetracosanoyl-CoA; C24:0-CoA) as acyl donors. Acetylated (PubMed:26620563). Deacetylation by SIRT3 increases enzyme activity and promotes mitochondrial ceramide accumulation (PubMed:26620563). Phosphorylated at the C-terminus by CK2, leading to increase the ceramide synthase activity. Most mice do not survive beyond 16 months (PubMed:20110363). Ceramide and downstream sphingolipids are devoid of very long (C22-C24) acyl chains (PubMed:20110363). Total glycerophospholipid and cholesterol levels are unaltered, while a marked increase in C18:1 and C18:2 fatty acids in phosphatidylethanolamine, concomitant with a reduction in C18:0 and C20:4 fatty acids are observed (PubMed:20110363). Membranes display higher membrane fluidity and show morphological changes (PubMed:20110363). Mutant mice show signs of neurodegeneration characterized by the loss of myelin sheath structure stability and formation of numerous small cysts in the cerebellum. They develop hepatocarcinomas between 7 and 9 months of age. Contains a predicted homeobox domain which is degenerated and lacks residues that are important for DNA-binding. The protein localizes in the endoplasmic reticulum and not in the nucleus, which also argues against homeobox function (PubMed:15823095). DNA binding protein binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process sphingolipid metabolic process membrane integral component of membrane transferase activity sphingolipid biosynthetic process ceramide biosynthetic process negative regulation of axon regeneration sphingosine N-acyltransferase activity negative regulation of Schwann cell migration negative regulation of Schwann cell proliferation involved in axon regeneration uc008qjj.1 uc008qjj.2 uc008qjj.3 uc008qjj.4 
ENSMUST00000015877.14 Capza2 ENSMUST00000015877.14 capping actin protein of muscle Z-line subunit alpha 2 (from RefSeq NM_007604.3) Capza2 ENSMUST00000015877.1 ENSMUST00000015877.10 ENSMUST00000015877.11 ENSMUST00000015877.12 ENSMUST00000015877.13 ENSMUST00000015877.2 ENSMUST00000015877.3 ENSMUST00000015877.4 ENSMUST00000015877.5 ENSMUST00000015877.6 ENSMUST00000015877.7 ENSMUST00000015877.8 ENSMUST00000015877.9 NM_007604 Q5DQJ3 Q5DQJ3_MOUSE uc009azt.1 uc009azt.2 uc009azt.3 uc009azt.4 F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments. Heterodimer of an alpha and a beta subunit. Belongs to the F-actin-capping protein alpha subunit family. actin binding F-actin capping protein complex barbed-end actin filament capping actin filament capping uc009azt.1 uc009azt.2 uc009azt.3 uc009azt.4 
ENSMUST00000015889.10 Plekho1 ENSMUST00000015889.10 pleckstrin homology domain containing, family O member 1, transcript variant 1 (from RefSeq NM_023320.3) ENSMUST00000015889.1 ENSMUST00000015889.2 ENSMUST00000015889.3 ENSMUST00000015889.4 ENSMUST00000015889.5 ENSMUST00000015889.6 ENSMUST00000015889.7 ENSMUST00000015889.8 ENSMUST00000015889.9 NM_023320 PKHO1_MOUSE Q9CXH2 Q9JIY0 uc008qlx.1 uc008qlx.2 uc008qlx.3 uc008qlx.4 uc008qlx.5 Plays a role in the regulation of the actin cytoskeleton through its interactions with actin capping protein (CP). May function to target CK2 to the plasma membrane thereby serving as an adapter to facilitate the phosphorylation of CP by protein kinase 2 (CK2). Appears to target ATM to the plasma membrane. Appears to also inhibit tumor cell growth by inhibiting AKT-mediated cell-survival. Also implicated in PI3K-regulated muscle differentiation, the regulation of AP-1 activity (plasma membrane bound AP-1 regulator that translocates to the nucleus) and the promotion of apoptosis induced by tumor necrosis factor TNF. When bound to PKB, it inhibits it probably by decreasing PKB level of phosphorylation (By similarity). Heterodimer or homodimer. Interacts with CK2 and actin capping subunits (capping protein CP-alpha and CP-beta). CKIP1 and CK2 together inhibit the activity of actin capping protein at the barbed ends of actin filaments. Interacts with ATM, IFP35, JUN, JUND, NMI and PI3K. Interacts with AKT1, AKT2 and AKT3 (each isozyme of PKB), PtdIns(3,5)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P2 (By similarity). Cell membrane ; Peripheral membrane protein Nucleus Cytoplasm Note=Predominantly localized to the plasma membrane through the binding to phosphatidylinositol 3- phosphate. In C2C12 cells, with the absence of growth factor, it is found in the nucleus. It rapidly translocates to the plasma membrane after insulin stimulation. In response to TNF, it translocates from the plasma membrane to the cytoplasm and then to the nucleus accompanied by cleavage by caspase-3. However, the subcellular location is highly dependent of the cell type, and this explains why it is found exclusively at the plasma membrane, in some type of cells. C-terminal fragments could be released during apoptosis via caspase-3-dependent cleavage. protein binding nucleus cytoplasm plasma membrane myoblast fusion regulation of cell shape membrane ruffle membrane muscle cell projection membrane myoblast migration lamellipodium morphogenesis uc008qlx.1 uc008qlx.2 uc008qlx.3 uc008qlx.4 uc008qlx.5 
ENSMUST00000015891.6 Vps45 ENSMUST00000015891.6 vacuolar protein sorting 45 (from RefSeq NM_013841.3) ENSMUST00000015891.1 ENSMUST00000015891.2 ENSMUST00000015891.3 ENSMUST00000015891.4 ENSMUST00000015891.5 NM_013841 P97390 Q91VK9 VPS45_MOUSE Vps45a uc008qly.1 uc008qly.2 uc008qly.3 uc008qly.4 May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network. Interacts with ZFYVE20 (By similarity). Interacts with STX6. Golgi apparatus membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein. Note=Associated with Golgi/endosomal vesicles and the trans-Golgi network. Belongs to the STXBP/unc-18/SEC1 family. Golgi membrane protein binding endosome Golgi apparatus vesicle docking involved in exocytosis synaptic vesicle biological_process endosome membrane protein transport membrane integral component of membrane vesicle-mediated transport uc008qly.1 uc008qly.2 uc008qly.3 uc008qly.4 
ENSMUST00000015892.14 Prpf3 ENSMUST00000015892.14 pre-mRNA processing factor 3, transcript variant 3 (from RefSeq NR_151629.1) ENSMUST00000015892.1 ENSMUST00000015892.10 ENSMUST00000015892.11 ENSMUST00000015892.12 ENSMUST00000015892.13 ENSMUST00000015892.2 ENSMUST00000015892.3 ENSMUST00000015892.4 ENSMUST00000015892.5 ENSMUST00000015892.6 ENSMUST00000015892.7 ENSMUST00000015892.8 ENSMUST00000015892.9 NR_151629 PRPF3_MOUSE Q3TJH4 Q922U1 Q9D6C6 uc008qlg.1 uc008qlg.2 uc008qlg.3 uc008qlg.4 Plays a role in pre-mRNA splicing as component of the U4/U6- U5 tri-snRNP complex that is involved in spliceosome assembly, and as component of the precatalytic spliceosome (spliceosome B complex). Component of the precatalytic spliceosome (spliceosome B complex) (By similarity). Component of the U4/U6-U5 tri-snRNP complex, a building block of the precatalytic spliceosome (spliceosome B complex) (By similarity). The U4/U6-U5 tri-snRNP complex is composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, SNRPG, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, plus LSM2, LSM3, LSM4, LSM5, LSM6, LSM7 and LSM8 (By similarity). Interacts directly with PRPF4 (By similarity). Part of a heteromeric complex containing PPIH, PRPF3 and PRPF4 that is stable in the absence of RNA (By similarity). Interacts with SART3; the interaction is direct and recruits the deubiquitinase USP4 to PRPF3 (By similarity). Interacts with PRPF19 (By similarity). Interacts ('Lys- 63'-linked polyubiquitinated) with PRPF8 (via the MPN (JAB/Mov34) domain); may stabilize the U4/U6-U5 tri-snRNP complex (By similarity). Interacts with ERCC6 (By similarity). Nucleus Nucleus speckle Ubiquitinated. Undergoes 'Lys-63'-linked polyubiquitination by PRPF19 and deubiquitination by USP4. 'Lys-63'-linked ubiquitination increases the affinity for PRPF8 and may regulate the assembly of the U4/U6-U5 tri-snRNP complex. spliceosomal tri-snRNP complex assembly mRNA splicing, via spliceosome nucleus nucleoplasm spliceosomal complex cytosol mRNA processing RNA splicing Cajal body nuclear speck macromolecular complex identical protein binding U4/U6 x U5 tri-snRNP complex U2-type precatalytic spliceosome uc008qlg.1 uc008qlg.2 uc008qlg.3 uc008qlg.4 
ENSMUST00000015901.11 Ppil4 ENSMUST00000015901.11 peptidylprolyl isomerase (cyclophilin)-like 4 (from RefSeq NM_026141.3) ENSMUST00000015901.1 ENSMUST00000015901.10 ENSMUST00000015901.2 ENSMUST00000015901.3 ENSMUST00000015901.4 ENSMUST00000015901.5 ENSMUST00000015901.6 ENSMUST00000015901.7 ENSMUST00000015901.8 ENSMUST00000015901.9 NM_026141 PPIL4_MOUSE Q3TJX1 Q68FC7 Q9CT22 Q9CXG3 uc007eip.1 uc007eip.2 uc007eip.3 uc007eip.4 PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity). Reaction=[protein]-peptidylproline (omega=180) = [protein]- peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA- COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8; Nucleus Belongs to the cyclophilin-type PPIase family. PPIL4 subfamily. protein peptidyl-prolyl isomerization nucleic acid binding RNA binding peptidyl-prolyl cis-trans isomerase activity nucleus nucleoplasm cytosol isomerase activity regulation of phosphorylation of RNA polymerase II C-terminal domain uc007eip.1 uc007eip.2 uc007eip.3 uc007eip.4 
ENSMUST00000015903.12 Cnih1 ENSMUST00000015903.12 cornichon family AMPA receptor auxiliary protein 1, transcript variant 1 (from RefSeq NM_009919.2) CNIH1_MOUSE Cnih ENSMUST00000015903.1 ENSMUST00000015903.10 ENSMUST00000015903.11 ENSMUST00000015903.2 ENSMUST00000015903.3 ENSMUST00000015903.4 ENSMUST00000015903.5 ENSMUST00000015903.6 ENSMUST00000015903.7 ENSMUST00000015903.8 ENSMUST00000015903.9 NM_009919 O35372 Q6ZWW6 uc007thg.1 uc007thg.2 uc007thg.3 uc007thg.4 uc007thg.5 uc007thg.6 Involved in the selective transport and maturation of TGF- alpha family proteins. Interacts with AREG immature precursor and with immature TGFA, i.e. with a prosegment and lacking full N-glycosylation, but not with the fully N-glycosylated form. In the Golgi apparatus, may form a complex with GORASP55 and transmembrane TGFA (By similarity). Endoplasmic reticulum membrane; Multi-pass membrane protein. Golgi apparatus membrane. Note=Located primarily in the ER; may cycle between the ER and the Golgi apparatus. Expressed in oocytes, and at a basal level in ovarian somatic cells of 6-week-old mouse. Expressed in adult brain. Abundant in full grown oocyte and the ovulated unfertilized egg, shows a slight decrease 12 hours after fertilization. Transcripts from the activated embryonic genome are present in the eight-cell embryo. Belongs to the cornichon family. Golgi membrane molecular_function cellular_component endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus biological_process membrane integral component of membrane vesicle-mediated transport uc007thg.1 uc007thg.2 uc007thg.3 uc007thg.4 uc007thg.5 uc007thg.6 
ENSMUST00000015920.12 Med22 ENSMUST00000015920.12 mediator complex subunit 22, transcript variant 5 (from RefSeq NM_001378788.1) A2ALA2 ENSMUST00000015920.1 ENSMUST00000015920.10 ENSMUST00000015920.11 ENSMUST00000015920.2 ENSMUST00000015920.3 ENSMUST00000015920.4 ENSMUST00000015920.5 ENSMUST00000015920.6 ENSMUST00000015920.7 ENSMUST00000015920.8 ENSMUST00000015920.9 MED22_MOUSE NM_001378788 Q3TTZ9 Q62276 Surf5 uc008iwd.1 uc008iwd.2 uc008iwd.3 Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP (By similarity). Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Surf5B; IsoId=Q62276-1; Sequence=Displayed; Name=2; Synonyms=Surf5A; IsoId=Q62276-2; Sequence=VSP_028993, VSP_028994; Belongs to the Mediator complex subunit 22 family. transcription cofactor activity nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter mediator complex uc008iwd.1 uc008iwd.2 uc008iwd.3 
ENSMUST00000015934.13 Surf1 ENSMUST00000015934.13 surfeit gene 1, transcript variant 1 (from RefSeq NM_013677.2) ENSMUST00000015934.1 ENSMUST00000015934.10 ENSMUST00000015934.11 ENSMUST00000015934.12 ENSMUST00000015934.2 ENSMUST00000015934.3 ENSMUST00000015934.4 ENSMUST00000015934.5 ENSMUST00000015934.6 ENSMUST00000015934.7 ENSMUST00000015934.8 ENSMUST00000015934.9 NM_013677 P09925 Q99KB4 Q9DCU5 SURF1_MOUSE Surf-1 uc012bsq.1 uc012bsq.2 uc012bsq.3 Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex (By similarity). Regulates cytochrome c oxidase assembly (PubMed:17210671, PubMed:23838831, PubMed:24911525). Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, the core components of this complex being COA3/MITRAC12 and COX14. Interacts with COA3. Mitochondrion membrane ; Multi-pass membrane protein Results in smaller animals with mild decreased motor skills, enhanced working spatial and recognition memory, and increased longevity (PubMed:17210671, PubMed:23838831, PubMed:24911525). Increases global and regional cerebral blood flow (PubMed:23838831). Increases lactate levels in blood and brain, and increases glucose consumption in the brain (PubMed:17210671, PubMed:23838831, PubMed:24911525). Increases hydrogen peroxide production and succinate dehydrogenase (SDH) activity, but decreases COX activity and respiration (PubMed:17210671, PubMed:21167962, PubMed:23838831, PubMed:24911525). In the brain, increases Hif1a and phosphorylated cyclic AMP response element-binding protein levels (PubMed:23838831). In the brain, increases resistance to calcium- related excitotoxic brain damage (PubMed:17210671). In skeletal muscles, results in mitochondrial unfolded protein response (PubMed:24911525). In the heart, results in elevated Nfe2l2 and Hmox1 expression (PubMed:24911525). Primary cultures of mutant neuronal cells show reduced sensitivity to glutamate-induced cytosolic calcium signal and impaired mitochondrial calcium uptake without changing the mitochondrial structure and membrane potential (PubMed:17210671). Primary cultures of phrenic and central vagus nerves show increased respiratory frequency and altered response to systemic hypoxia and hypercapnia (PubMed:21167962). Belongs to the SURF1 family. cytochrome-c oxidase activity mitochondrion mitochondrial inner membrane oxidative phosphorylation membrane integral component of membrane electron transport chain mitochondrial respiratory chain complex IV assembly hydrogen ion transmembrane transport uc012bsq.1 uc012bsq.2 uc012bsq.3 
ENSMUST00000015941.8 Bhmt2 ENSMUST00000015941.8 betaine-homocysteine methyltransferase 2 (from RefSeq NM_022884.2) B1B1C9 BHMT2_MOUSE ENSMUST00000015941.1 ENSMUST00000015941.2 ENSMUST00000015941.3 ENSMUST00000015941.4 ENSMUST00000015941.5 ENSMUST00000015941.6 ENSMUST00000015941.7 NM_022884 Q8C1U2 Q91WS4 Q9EQE8 uc007rlk.1 uc007rlk.2 uc007rlk.3 Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor. Reaction=L-homocysteine + S-methyl-L-methionine = H(+) + 2 L- methionine; Xref=Rhea:RHEA:26337, ChEBI:CHEBI:15378, ChEBI:CHEBI:57844, ChEBI:CHEBI:58199, ChEBI:CHEBI:58252; EC=2.1.1.10; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine (BhmT route): step 1/1. Homotetramer. Expressed in fetal heart, lung, liver, kidney and eye. methyltransferase activity zinc ion binding S-adenosylmethionine-homocysteine S-methyltransferase activity methionine biosynthetic process transferase activity methylation S-methylmethionine metabolic process S-adenosylmethionine metabolic process metal ion binding betaine-homocysteine S-methyltransferase activity S-methylmethionine-homocysteine S-methyltransferase activity L-methionine salvage uc007rlk.1 uc007rlk.2 uc007rlk.3 
ENSMUST00000015950.12 Qdpr ENSMUST00000015950.12 quinoid dihydropteridine reductase (from RefSeq NM_024236.2) DHPR_MOUSE Dhpr ENSMUST00000015950.1 ENSMUST00000015950.10 ENSMUST00000015950.11 ENSMUST00000015950.2 ENSMUST00000015950.3 ENSMUST00000015950.4 ENSMUST00000015950.5 ENSMUST00000015950.6 ENSMUST00000015950.7 ENSMUST00000015950.8 ENSMUST00000015950.9 NM_024236 Q3TT09 Q8BVI4 Q9D0K4 uc008xix.1 uc008xix.2 uc008xix.3 uc008xix.4 Catalyzes the conversion of quinonoid dihydrobiopterin into tetrahydrobiopterin. Reaction=5,6,7,8-tetrahydropteridine + NAD(+) = 6,7-dihydropteridine + H(+) + NADH; Xref=Rhea:RHEA:17869, ChEBI:CHEBI:15378, ChEBI:CHEBI:28889, ChEBI:CHEBI:30156, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.5.1.34; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:17871; Evidence=; Reaction=5,6,7,8-tetrahydropteridine + NADP(+) = 6,7-dihydropteridine + H(+) + NADPH; Xref=Rhea:RHEA:17865, ChEBI:CHEBI:15378, ChEBI:CHEBI:28889, ChEBI:CHEBI:30156, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.5.1.34; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:17867; Evidence=; Homodimer. Belongs to the short-chain dehydrogenases/reductases (SDR) family. liver development 6,7-dihydropteridine reductase activity cytoplasm mitochondrion cytosol L-phenylalanine catabolic process tetrahydrobiopterin biosynthetic process response to aluminum ion response to lead ion oxidoreductase activity response to glucagon cellular response to drug protein homodimerization activity neuron projection oxidation-reduction process NADPH binding NADH binding uc008xix.1 uc008xix.2 uc008xix.3 uc008xix.4 
ENSMUST00000015987.10 Rxrg ENSMUST00000015987.10 retinoid X receptor gamma, transcript variant 1 (from RefSeq NM_009107.4) ENSMUST00000015987.1 ENSMUST00000015987.2 ENSMUST00000015987.3 ENSMUST00000015987.4 ENSMUST00000015987.5 ENSMUST00000015987.6 ENSMUST00000015987.7 ENSMUST00000015987.8 ENSMUST00000015987.9 NM_009107 Nr2b3 P28705 RXRG_MOUSE uc007dla.1 uc007dla.2 uc007dla.3 uc007dla.4 Receptor for retinoic acid. Retinoic acid receptors bind as heterodimers to their target response elements in response to their ligands, all-trans or 9-cis retinoic acid, and regulate gene expression in various biological processes. The RAR/RXR heterodimers bind to the retinoic acid response elements (RARE) composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. The high affinity ligand for RXRs is 9-cis retinoic acid (By similarity). Homodimer (By similarity). Heterodimer with a RAR molecule (By similarity). Binds DNA preferentially as a RAR/RXR heterodimer (By similarity). Interacts with RARA (By similarity). Nucleus Cytoplasm Expressed from embryo day 10.5 to birth. At day 10-13, expression in somites and the ventral horns of the spinal chord. At day 13.5, strongly expressed in the corpus striatum. At day 16.5, expression also in the pituitary with weaker expression in the neck, skeletal muscle and tongue. Expression in the corpus striatum continues until at least 7 days after birth. Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain. Acetylated by EP300. Knockout mice exhibit memory deficits. Belongs to the nuclear hormone receptor family. NR2 subfamily. RNA polymerase II regulatory region sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding nucleus cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter zinc ion binding cell differentiation regulation of myelination response to retinoic acid identical protein binding steroid hormone mediated signaling pathway sequence-specific DNA binding retinoic acid-responsive element binding positive regulation of transcription from RNA polymerase II promoter metal ion binding retinoic acid receptor signaling pathway anatomical structure development RNA polymerase II transcription factor complex positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus uc007dla.1 uc007dla.2 uc007dla.3 uc007dla.4 
ENSMUST00000015998.8 Cd5l ENSMUST00000015998.8 CD5 antigen-like (from RefSeq NM_009690.2) Aim Api6 CD5L_MOUSE ENSMUST00000015998.1 ENSMUST00000015998.2 ENSMUST00000015998.3 ENSMUST00000015998.4 ENSMUST00000015998.5 ENSMUST00000015998.6 ENSMUST00000015998.7 NM_009690 O35300 O35301 Q3TXN5 Q505P6 Q91W05 Q9QWK4 uc008psa.1 uc008psa.2 uc008psa.3 uc008psa.4 Secreted protein that acts as a key regulator of lipid synthesis: mainly expressed by macrophages in lymphoid and inflamed tissues and regulates mechanisms in inflammatory responses, such as infection or atherosclerosis (PubMed:26048980). Able to inhibit lipid droplet size in adipocytes (PubMed:20519120, PubMed:22579686). Following incorporation into mature adipocytes via CD36-mediated endocytosis, associates with cytosolic FASN, inhibiting fatty acid synthase activity and leading to lipolysis, the degradation of triacylglycerols into glycerol and free fatty acids (FFA) (PubMed:20519120). CD5L-induced lipolysis occurs with progression of obesity: participates in obesity-associated inflammation following recruitment of inflammatory macrophages into adipose tissues, a cause of insulin resistance and obesity-related metabolic disease (PubMed:21730133). Regulation of intracellular lipids mediated by CD5L has a direct effect on transcription regulation mediated by nuclear receptors ROR-gamma (RORC) (PubMed:22579686, PubMed:26607793). Acts as a key regulator of metabolic switch in T-helper Th17 cells (PubMed:26607794, PubMed:26607793). Regulates the expression of pro- inflammatory genes in Th17 cells by altering the lipid content and limiting synthesis of cholesterol ligand of RORC, the master transcription factor of Th17-cell differentiation (PubMed:26607793). CD5L is mainly present in non-pathogenic Th17 cells, where it decreases the content of polyunsaturated fatty acyls (PUFA), affecting two metabolic proteins MSMO1 and CYP51A1, which synthesize ligands of RORC, limiting RORC activity and expression of pro-inflammatory genes (PubMed:26607793). Participates in obesity-associated autoimmunity via its association with IgM, interfering with the binding of IgM to Fcalpha/mu receptor and enhancing the development of long-lived plasma cells that produce high-affinity IgG autoantibodies (PubMed:23562157). Also acts as an inhibitor of apoptosis in macrophages: promotes macrophage survival from the apoptotic effects of oxidized lipids in case of atherosclerosis (PubMed:9892623, PubMed:16054063). Involved in early response to microbial infection against various pathogens by acting as a pattern recognition receptor and by promoting autophagy (By similarity). Interacts with FASN; the interaction is direct (PubMed:20519120). Interacts (via SRCR2 and SRCR3) with pentameric IgM (via Fc region); disulfide-linked (PubMed:23562157, PubMed:30324136). Secreted toplasm Note=Secreted by macrophages and circulates in the blood (PubMed:20519120). Transported in the cytoplasm via CD36-mediated endocytosis (PubMed:20519120). Specifically expressed in tissue macrophages (PubMed:9892623). Expressed in thymus, liver, spleen and lymph nodes (PubMed:10651944). Present in Th17 cells; mainly present in non- pathogenic Th17 cells (PubMed:26607793). Transcription is activated by nuclear receptor liver X /retinoid X (RXR/LXR). N-glycosylated (PubMed:10651944, PubMed:23236605). N-glycan at Asn-99 possesses only alpha2,6-sialylated terminals, while Asn-229 possesses both alpha2,6-sialylated and non-sialylated terminals (PubMed:23236605). N-glycosylation increases secretion. Mice are apparently healthy under specific pathogen-free conditions. However, thymus of mice display much fewer thymocytes and CD4/CD8 double-positive (DP) thymocytes are more susceptible to apoptosis (PubMed:9892623). Increased adipocyte size and adipose tissue mass (PubMed:20519120). Higher level of free cholesterol in Th17 cells (PubMed:26607793). immune system process serine-type endopeptidase activity scavenger receptor activity extracellular region cytoplasm plasma membrane endocytosis apoptotic process inflammatory response cell surface membrane regulation of complement activation zymogen activation positive regulation of complement-dependent cytotoxicity uc008psa.1 uc008psa.2 uc008psa.3 uc008psa.4 
ENSMUST00000016023.9 Fam184b ENSMUST00000016023.9 family with sequence similarity 184, member B (from RefSeq NM_021416.3) ENSMUST00000016023.1 ENSMUST00000016023.2 ENSMUST00000016023.3 ENSMUST00000016023.4 ENSMUST00000016023.5 ENSMUST00000016023.6 ENSMUST00000016023.7 ENSMUST00000016023.8 F184B_MOUSE Kiaa1276 MNCb-2622 NM_021416 Q0KK51 Q0KK56 Q76KB4 Q7TNB6 Q9JJG2 uc008xja.1 uc008xja.2 uc008xja.3 uc008xja.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q0KK56-1; Sequence=Displayed; Name=2; IsoId=Q0KK56-2; Sequence=VSP_031654, VSP_031655; Belongs to the FAM184 family. molecular_function cellular_component biological_process uc008xja.1 uc008xja.2 uc008xja.3 uc008xja.4 
ENSMUST00000016033.9 Lta4h ENSMUST00000016033.9 leukotriene A4 hydrolase, transcript variant 1 (from RefSeq NM_008517.2) ENSMUST00000016033.1 ENSMUST00000016033.2 ENSMUST00000016033.3 ENSMUST00000016033.4 ENSMUST00000016033.5 ENSMUST00000016033.6 ENSMUST00000016033.7 ENSMUST00000016033.8 LKHA4_MOUSE NM_008517 P24527 Q3UY71 Q8VDR8 uc007gur.1 uc007gur.2 uc007gur.3 The protein encoded by this gene is an enzyme that contains both hydrolase and aminopeptidase activities. The hydrolase activity is used in the final step of the biosynthesis of leukotriene B4, a proinflammatory mediator. The aminopeptidase activity has been shown to degrade proline-glycine-proline (PGP), a neutrophil chemoattractant and biomarker for chronic obstructive pulmonary disease (COPD). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. Bifunctional zinc metalloenzyme that comprises both epoxide hydrolase (EH) and aminopeptidase activities (By similarity). Acts as an epoxide hydrolase to catalyze the conversion of LTA4 to the pro- inflammatory mediator leukotriene B4 (LTB4) (PubMed:1881903, PubMed:9287304). Has also aminopeptidase activity, with high affinity for N-terminal arginines of various synthetic tripeptides (By similarity). In addition to its pro-inflammatory EH activity, may also counteract inflammation by its aminopeptidase activity, which inactivates by cleavage another neutrophil attractant, the tripeptide Pro-Gly-Pro (PGP), a bioactive fragment of collagen generated by the action of matrix metalloproteinase-9 (MMP9) and prolylendopeptidase (PREPL) (PubMed:20813919). Involved also in the biosynthesis of resolvin E1 and 18S-resolvin E1 from eicosapentaenoic acid, two lipid mediators that show potent anti-inflammatory and pro-resolving actions (By similarity). Reaction=H2O + leukotriene A4 = leukotriene B4; Xref=Rhea:RHEA:22324, ChEBI:CHEBI:15377, ChEBI:CHEBI:57461, ChEBI:CHEBI:57463; EC=3.3.2.6; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22325; Evidence=; Reaction=(5S,6S)-epoxy-(18R)-hydroxy-(7E,9E,11Z,14Z,16E)- eicosapentaenoate + H2O = resolvin E1; Xref=Rhea:RHEA:50272, ChEBI:CHEBI:15377, ChEBI:CHEBI:91000, ChEBI:CHEBI:132219; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50273; Evidence=; Reaction=(5S,6S)-epoxy-(18S)-hydroxy-(7E,9E,11Z,14Z,16E)- eicosapentaenoate + H2O = 18S-resolvin E1; Xref=Rhea:RHEA:51988, ChEBI:CHEBI:15377, ChEBI:CHEBI:134661, ChEBI:CHEBI:136057; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:51989; Evidence=; Reaction=Release of the N-terminal residue from a tripeptide.; EC=3.4.11.4; Evidence= Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Inhibited by bestatin (By similarity). The epoxide hydrolase activity is restrained by suicide inactivation that involves binding of LTA4 to Tyr-379 (PubMed:9287304). 4-(4-benzylphenyl)thiazol- 2-amine (ARM1) selectively inhibits the epoxide hydrolase activity (By similarity). Kinetic parameters: KM=5 uM for leukotriene A4 ; KM=1.59 uM for Pro-Gly-Pro ; Vmax=1030 nmol/min/mg enzyme for leukotriene A4 ; Lipid metabolism; leukotriene B4 biosynthesis. Monomer. Cytoplasm Phosphorylation at Ser-416 inhibits leukotriene-A4 hydrolase activity. Deficient mice have normal phenotypes. Inflammatory reactions are reduced as are some other immunological responses. Belongs to the peptidase M1 family. aminopeptidase activity epoxide hydrolase activity leukotriene-A4 hydrolase activity protein binding nucleus nucleoplasm cytoplasm cytosol proteolysis leukotriene metabolic process peptidase activity metallopeptidase activity zinc ion binding hydrolase activity leukotriene biosynthetic process peptide catabolic process cellular lipid metabolic process cellular protein metabolic process metal ion binding metalloaminopeptidase activity uc007gur.1 uc007gur.2 uc007gur.3 
ENSMUST00000016034.3 Amdhd1 ENSMUST00000016034.3 amidohydrolase domain containing 1 (from RefSeq NM_027908.1) ENSMUST00000016034.1 ENSMUST00000016034.2 HUTI_MOUSE NM_027908 Q7TPP5 Q811K3 Q8R230 Q9DBA8 uc007gut.1 uc007gut.2 uc007gut.3 Reaction=4-imidazolone-5-propanoate + H2O = N-formimidoyl-L-glutamate; Xref=Rhea:RHEA:23660, ChEBI:CHEBI:15377, ChEBI:CHEBI:58928, ChEBI:CHEBI:77893; EC=3.5.2.7; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Name=Fe(3+); Xref=ChEBI:CHEBI:29034; Evidence=; Note=Binds 1 zinc or iron ion per subunit. ; Amino-acid degradation; L-histidine degradation into L- glutamate; N-formimidoyl-L-glutamate from L-histidine: step 3/3. Belongs to the metallo-dependent hydrolases superfamily. HutI family. cytoplasm histidine metabolic process histidine catabolic process hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides histidine catabolic process to glutamate and formamide histidine catabolic process to glutamate and formate metal ion binding imidazolonepropionase activity uc007gut.1 uc007gut.2 uc007gut.3 
ENSMUST00000016086.10 Gtf2ird2 ENSMUST00000016086.10 GTF2I repeat domain containing 2, transcript variant 1 (from RefSeq NM_053266.1) ENSMUST00000016086.1 ENSMUST00000016086.2 ENSMUST00000016086.3 ENSMUST00000016086.4 ENSMUST00000016086.5 ENSMUST00000016086.6 ENSMUST00000016086.7 ENSMUST00000016086.8 ENSMUST00000016086.9 GT2D2_MOUSE NM_053266 Q99NI3 uc008zve.1 uc008zve.2 uc008zve.3 Nucleus. Ubiquitous. No expression in embryo at 9.5 dpc and 10.5 dpc. Expressed in tooth epithelium at 13.5 dpc. At the early bell stage, Expression in preameloblasts and preodontoblasts. Belongs to the TFII-I family. DNA binding protein binding nucleus transition between fast and slow fiber uc008zve.1 uc008zve.2 uc008zve.3 
ENSMUST00000016088.9 Castor2 ENSMUST00000016088.9 cytosolic arginine sensor for mTORC1 subunit 2 (from RefSeq NM_030719.3) CAST2_MOUSE Castor2 ENSMUST00000016088.1 ENSMUST00000016088.2 ENSMUST00000016088.3 ENSMUST00000016088.4 ENSMUST00000016088.5 ENSMUST00000016088.6 ENSMUST00000016088.7 ENSMUST00000016088.8 Gats Gatsl2 NM_030719 Q8C7A9 Q8CAB8 Q9ER44 uc008zva.1 uc008zva.2 uc008zva.3 uc008zva.4 Functions as a negative regulator of the TORC1 signaling pathway through the GATOR complex. As part of homodimers or heterodimers with CASTOR1, directly binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1. Does not directly bind arginine, but binding of arginine to CASTOR1 disrupts the interaction of CASTOR2- containing heterodimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway. Forms homodimers and heterodimers with CASTOR1. Interacts with the GATOR2 complex which is composed of MIOS, SEC13, SEH1L, WDR24 and WDR59; the interaction is not regulated by arginine. Cytoplasm, cytosol Belongs to the GATS family. cytoplasm cytosol identical protein binding regulation of intracellular signal transduction cellular response to L-arginine negative regulation of TORC1 signaling GATOR2 complex uc008zva.1 uc008zva.2 uc008zva.3 uc008zva.4 
ENSMUST00000016105.9 Adss2 ENSMUST00000016105.9 adenylosuccinate synthase 2, transcript variant 4 (from RefSeq NR_185123.1) Adss ENSMUST00000016105.1 ENSMUST00000016105.2 ENSMUST00000016105.3 ENSMUST00000016105.4 ENSMUST00000016105.5 ENSMUST00000016105.6 ENSMUST00000016105.7 ENSMUST00000016105.8 NR_185123 P46664 PURA2_MOUSE Q9CQL9 uc007dut.1 uc007dut.2 uc007dut.3 Plays an important role in the de novo pathway and in the salvage pathway of purine nucleotide biosynthesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP. Reaction=GTP + IMP + L-aspartate = GDP + 2 H(+) + N(6)-(1,2- dicarboxyethyl)-AMP + phosphate; Xref=Rhea:RHEA:15753, ChEBI:CHEBI:15378, ChEBI:CHEBI:29991, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:57567, ChEBI:CHEBI:58053, ChEBI:CHEBI:58189; EC=6.3.4.4; Evidence= Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Note=Binds 1 Mg(2+) ion per subunit. ; Inhibited competitively by AMP and IMP and non- competitively by fructose 1,6-bisphosphate. Kinetic parameters: KM=15 uM for GTP ; KM=12 uM for IMP ; KM=950 uM for L-aspartate ; pH dependence: Optimum pH is 6.6-6.9. ; Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 1/2. Homodimer. Cytoplasm Mitochondrion Belongs to the adenylosuccinate synthetase family. nucleotide binding magnesium ion binding adenylosuccinate synthase activity GTP binding cytoplasm cytosol plasma membrane purine nucleotide biosynthetic process AMP biosynthetic process aspartate metabolic process response to purine-containing compound ligase activity 'de novo' AMP biosynthetic process IMP metabolic process metal ion binding response to ammonium ion cellular response to electrical stimulus uc007dut.1 uc007dut.2 uc007dut.3 
ENSMUST00000016106.6 Spmip3 ENSMUST00000016106.6 sperm microtubule inner protein 3 (from RefSeq NM_027077.2) ENSMUST00000016106.1 ENSMUST00000016106.2 ENSMUST00000016106.3 ENSMUST00000016106.4 ENSMUST00000016106.5 NM_027077 Q9DAA7 SMIP3_MOUSE SPMIP3 uc007dur.1 uc007dur.2 uc007dur.3 molecular_function cellular_component biological_process uc007dur.1 uc007dur.2 uc007dur.3 
ENSMUST00000016110.13 Il17rb ENSMUST00000016110.13 interleukin 17 receptor B (from RefSeq NM_019583.3) ENSMUST00000016110.1 ENSMUST00000016110.10 ENSMUST00000016110.11 ENSMUST00000016110.12 ENSMUST00000016110.2 ENSMUST00000016110.3 ENSMUST00000016110.4 ENSMUST00000016110.5 ENSMUST00000016110.6 ENSMUST00000016110.7 ENSMUST00000016110.8 ENSMUST00000016110.9 Evi27 I17RB_MOUSE Il17br NM_019583 Q9JIP2 Q9JIP3 uc007sun.1 uc007sun.2 Receptor for the pro-inflammatory cytokines IL17B and IL17E. May play a role in controlling the growth and/or differentiation of hematopoietic cells. Interacts with DAZAP2. Interacts with TRAF3IP2. [Isoform 1]: Cell membrane; Single-pass type I membrane protein. [Isoform 2]: Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9JIP3-1; Sequence=Displayed; Name=2; IsoId=Q9JIP3-2; Sequence=VSP_001742, VSP_001743; Liver and testis. Expressed at lower level in kidney and lung. Expressed in selected T-cell, B-cell and myeloid cell lines. Evi27 is a common site of retroviral integration in Bxh2 murine myeloid leukemias, localized near the Il17rb gene. Proviral integrations result in increased expression of Il17rb on the cell surface. cytokine receptor activity extracellular region cytoplasm plasma membrane integral component of plasma membrane cell surface membrane integral component of membrane cytokine-mediated signaling pathway interleukin-17 receptor activity positive regulation of inflammatory response positive regulation of interleukin-5 secretion positive regulation of interleukin-13 secretion uc007sun.1 uc007sun.2 
ENSMUST00000016124.15 Lrrc27 ENSMUST00000016124.15 leucine rich repeat containing 27, transcript variant 1 (from RefSeq NM_027164.1) ENSMUST00000016124.1 ENSMUST00000016124.10 ENSMUST00000016124.11 ENSMUST00000016124.12 ENSMUST00000016124.13 ENSMUST00000016124.14 ENSMUST00000016124.2 ENSMUST00000016124.3 ENSMUST00000016124.4 ENSMUST00000016124.5 ENSMUST00000016124.6 ENSMUST00000016124.7 ENSMUST00000016124.8 ENSMUST00000016124.9 LRC27_MOUSE NM_027164 Q80YS5 Q9D6Z2 uc009kfm.1 uc009kfm.2 uc009kfm.3 Sequence=BAB26510.1; Type=Erroneous initiation; Evidence=; Sequence=BAE38281.1; Type=Erroneous initiation; Evidence=; molecular_function uc009kfm.1 uc009kfm.2 uc009kfm.3 
ENSMUST00000016125.12 Stk32c ENSMUST00000016125.12 serine/threonine kinase 32C, transcript variant 1 (from RefSeq NM_021302.4) ENSMUST00000016125.1 ENSMUST00000016125.10 ENSMUST00000016125.11 ENSMUST00000016125.2 ENSMUST00000016125.3 ENSMUST00000016125.4 ENSMUST00000016125.5 ENSMUST00000016125.6 ENSMUST00000016125.7 ENSMUST00000016125.8 ENSMUST00000016125.9 MNCb-1563 NM_021302 Pkek Q8QZV4 Q9JJG4 ST32C_MOUSE Stk32c uc009kfl.1 uc009kfl.2 uc009kfl.3 uc009kfl.4 Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. nucleotide binding protein kinase activity protein serine/threonine kinase activity ATP binding protein phosphorylation kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation intracellular signal transduction metal ion binding uc009kfl.1 uc009kfl.2 uc009kfl.3 uc009kfl.4 
ENSMUST00000016138.11 Fnta ENSMUST00000016138.11 farnesyltransferase, CAAX box, alpha (from RefSeq NM_008033.4) ENSMUST00000016138.1 ENSMUST00000016138.10 ENSMUST00000016138.2 ENSMUST00000016138.3 ENSMUST00000016138.4 ENSMUST00000016138.5 ENSMUST00000016138.6 ENSMUST00000016138.7 ENSMUST00000016138.8 ENSMUST00000016138.9 FNTA_MOUSE NM_008033 Q61239 Q921F7 uc009lhi.1 uc009lhi.2 uc009lhi.3 Essential subunit of both the farnesyltransferase and the geranylgeranyltransferase complex. Contributes to the transfer of a farnesyl or geranylgeranyl moiety from farnesyl or geranylgeranyl diphosphate to a cysteine at the fourth position from the C-terminus of several proteins having the C-terminal sequence Cys-aliphatic- aliphatic-X. May positively regulate neuromuscular junction development downstream of MUSK via its function in RAC1 prenylation and activation. Reaction=(2E,6E)-farnesyl diphosphate + L-cysteinyl-[protein] = diphosphate + S-(2E,6E)-farnesyl-L-cysteinyl-[protein]; Xref=Rhea:RHEA:13345, Rhea:RHEA-COMP:10131, Rhea:RHEA-COMP:11535, ChEBI:CHEBI:29950, ChEBI:CHEBI:33019, ChEBI:CHEBI:86019, ChEBI:CHEBI:175763; EC=2.5.1.58; Evidence=; Reaction=geranylgeranyl diphosphate + L-cysteinyl-[protein] = diphosphate + S-geranylgeranyl-L-cysteinyl-[protein]; Xref=Rhea:RHEA:21240, Rhea:RHEA-COMP:10131, Rhea:RHEA-COMP:11537, ChEBI:CHEBI:29950, ChEBI:CHEBI:33019, ChEBI:CHEBI:57533, ChEBI:CHEBI:86021; EC=2.5.1.59; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Activated by the AGRIN-induced phosphorylation which is mediated by MUSK. Heterodimer of FNTA and FNTB (farnesyltransferase) (By similarity). Heterodimer of FNTA and PGGT1B (geranylgeranyltransferase) (By similarity). Phosphorylated. Phosphorylation is mediated by MUSK upon AGRIN stimulation and results in the activation of FNTA. Belongs to the protein prenyltransferase subunit alpha family. prenyltransferase activity protein farnesyltransferase activity protein geranylgeranyltransferase activity CAAX-protein geranylgeranyltransferase activity Rab geranylgeranyltransferase activity cytoplasm microtubule associated complex CAAX-protein geranylgeranyltransferase complex protein farnesyltransferase complex microtubule binding positive regulation of cell proliferation protein prenyltransferase activity response to inorganic substance response to organic cyclic compound transferase activity protein prenylation protein farnesylation protein geranylgeranylation acetylcholine receptor regulator activity receptor tyrosine kinase binding response to cytokine alpha-tubulin binding negative regulation of apoptotic process neurotransmitter receptor metabolic process positive regulation of cell cycle positive regulation of nitric-oxide synthase biosynthetic process negative regulation of nitric-oxide synthase biosynthetic process positive regulation of tubulin deacetylation positive regulation of deacetylase activity regulation of neurotransmitter receptor activity drug binding zinc ion binding isoprenoid binding peptide binding uc009lhi.1 uc009lhi.2 uc009lhi.3 
ENSMUST00000016143.9 Wasf3 ENSMUST00000016143.9 WASP family, member 3, transcript variant 6 (from RefSeq NR_184697.1) ENSMUST00000016143.1 ENSMUST00000016143.2 ENSMUST00000016143.3 ENSMUST00000016143.4 ENSMUST00000016143.5 ENSMUST00000016143.6 ENSMUST00000016143.7 ENSMUST00000016143.8 NR_184697 Q8VHI6 WASF3_MOUSE Wave3 uc009anf.1 uc009anf.2 uc009anf.3 Downstream effector molecules involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (By similarity). Binds actin and the Arp2/3 complex. Cytoplasm, cytoskeleton Binds the Arp2/3 complex through the C-terminal region and actin through verprolin homology (VPH) domain. Phosphorylation by ABL1 promotes lamellipodia formation and cell migration. Belongs to the SCAR/WAVE family. molecular_function actin binding cytoplasm cytoskeleton cytoskeleton organization regulation of cell shape oligodendrocyte development lamellipodium lamellipodium assembly actin cytoskeleton organization positive regulation of myelination postsynapse modification of postsynaptic actin cytoskeleton glutamatergic synapse uc009anf.1 uc009anf.2 uc009anf.3 
ENSMUST00000016168.9 Lbp ENSMUST00000016168.9 lipopolysaccharide binding protein (from RefSeq NM_008489.2) A2AC66 ENSMUST00000016168.1 ENSMUST00000016168.2 ENSMUST00000016168.3 ENSMUST00000016168.4 ENSMUST00000016168.5 ENSMUST00000016168.6 ENSMUST00000016168.7 ENSMUST00000016168.8 LBP_MOUSE NM_008489 Q61805 Q99KA0 uc008nqa.1 uc008nqa.2 Plays a role in the innate immune response. Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria (PubMed:9144073). Acts as an affinity enhancer for CD14, facilitating its association with LPS (By similarity). Promotes the release of cytokines in response to bacterial lipopolysaccharide (PubMed:24380872). When bound to LPS, interacts (via C-terminus) with soluble and membrane-bound CD14. Secreted Cytoplasmic granule membrane Note=Membrane-associated in polymorphonuclear Leukocytes (PMN) granules. Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. lipopolysaccharide binding leukocyte chemotaxis involved in inflammatory response macrophage activation involved in immune response immune system process receptor binding extracellular region extracellular space lipid transport acute-phase response opsonization lipid binding cell surface lipopolysaccharide transport membrane lipopolysaccharide-mediated signaling pathway detection of molecule of bacterial origin response to lipopolysaccharide negative regulation of tumor necrosis factor production positive regulation of chemokine production positive regulation of interleukin-6 production positive regulation of interleukin-8 production positive regulation of tumor necrosis factor production macromolecule localization positive regulation of toll-like receptor 4 signaling pathway positive regulation of tumor necrosis factor biosynthetic process defense response to bacterium positive regulation of macrophage activation innate immune response positive regulation of cytolysis defense response to Gram-negative bacterium defense response to Gram-positive bacterium positive regulation of phagocytosis, engulfment positive regulation of respiratory burst involved in inflammatory response lipoteichoic acid binding cellular response to lipopolysaccharide cellular response to lipoteichoic acid lipopeptide binding positive regulation of neutrophil chemotaxis regulation of membrane permeability uc008nqa.1 uc008nqa.2 
ENSMUST00000016172.10 Celsr1 ENSMUST00000016172.10 cadherin, EGF LAG seven-pass G-type receptor 1 (from RefSeq NM_009886.2) CELR1_MOUSE E9QK27 ENSMUST00000016172.1 ENSMUST00000016172.2 ENSMUST00000016172.3 ENSMUST00000016172.4 ENSMUST00000016172.5 ENSMUST00000016172.6 ENSMUST00000016172.7 ENSMUST00000016172.8 ENSMUST00000016172.9 NM_009886 O35161 uc007xdt.1 uc007xdt.2 uc007xdt.3 Receptor that may have an important role in cell/cell signaling during nervous system formation. O35161; Q7T0S3: atp6ap2.S; Xeno; NbExp=2; IntAct=EBI-8294650, EBI-8294706; Cell membrane; Multi-pass membrane protein. Expressed in the brain, where it is localized principally in the ependymal cell layer, choroid plexus and the area postrema. Also found in spinal cord and in the eye. First detected at 6 dpc. Predominantly expressed in the developing CNS, the emerging dorsal root ganglia and cranial ganglia. In the CNS, expression is uniform along the rostrocaudal axis. During gastrulation, it is expressed in the vicinity of the primitive streak, and becomes predominant in that area at late gastrulation. At 10 dpc, detected in ventricular zones (VZ), but not in marginal zones (MZ), and weakly in other structures. Between 12 dpc and 15 dpc, a high expression is present in the VZ in all brain areas. No expression in differentiated neuronal fields. In the newborn and postnatal stages, expression remains restricted to the VZ. Also found weakly in fetal lungs, kidney and epithelia. The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains. Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. gastrulation with mouth forming second establishment of planar polarity neuron migration neural tube closure hair follicle development transmembrane signaling receptor activity G-protein coupled receptor activity calcium ion binding protein binding nucleoplasm plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway Rho protein signal transduction cell-cell signaling multicellular organism development central nervous system development locomotory behavior anterior/posterior pattern specification membrane integral component of membrane regulation of actin cytoskeleton organization wound healing establishment of planar polarity of embryonic epithelium inner ear morphogenesis apical protein localization regulation of neurotransmitter secretion protein dimerization activity establishment of body hair planar orientation orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis planar dichotomous subdivision of terminal units involved in lung branching morphogenesis lateral sprouting involved in lung morphogenesis planar cell polarity pathway involved in neural tube closure protein localization involved in establishment of planar polarity cell-cell adhesion uc007xdt.1 uc007xdt.2 uc007xdt.3 
ENSMUST00000016231.14 Fli1 ENSMUST00000016231.14 Friend leukemia integration 1, transcript variant 1 (from RefSeq NM_008026.6) ENSMUST00000016231.1 ENSMUST00000016231.10 ENSMUST00000016231.11 ENSMUST00000016231.12 ENSMUST00000016231.13 ENSMUST00000016231.2 ENSMUST00000016231.3 ENSMUST00000016231.4 ENSMUST00000016231.5 ENSMUST00000016231.6 ENSMUST00000016231.7 ENSMUST00000016231.8 ENSMUST00000016231.9 Fli1 NM_008026 Q544B3 Q544B3_MOUSE uc009orz.1 uc009orz.2 uc009orz.3 uc009orz.4 Nucleus Belongs to the ETS family. DNA binding transcription factor activity, sequence-specific DNA binding nucleus cytosol regulation of transcription, DNA-templated nuclear body sequence-specific DNA binding positive regulation of transcription, DNA-templated uc009orz.1 uc009orz.2 uc009orz.3 uc009orz.4 
ENSMUST00000016279.11 N4bp2l1 ENSMUST00000016279.11 NEDD4 binding protein 2-like 1 (from RefSeq NM_133898.4) ENSMUST00000016279.1 ENSMUST00000016279.10 ENSMUST00000016279.2 ENSMUST00000016279.3 ENSMUST00000016279.4 ENSMUST00000016279.5 ENSMUST00000016279.6 ENSMUST00000016279.7 ENSMUST00000016279.8 ENSMUST00000016279.9 N42L1_MOUSE NM_133898 Q3UU88 Q3V2Q8 Q8BL78 Q8VE50 uc009auc.1 uc009auc.2 uc009auc.3 uc009auc.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q3V2Q8-1; Sequence=Displayed; Name=2; IsoId=Q3V2Q8-2; Sequence=VSP_031320; Sequence=BAC32606.1; Type=Frameshift; Evidence=; molecular_function cellular_component biological_process uc009auc.1 uc009auc.2 uc009auc.3 uc009auc.4 
ENSMUST00000016294.8 Tenm1 ENSMUST00000016294.8 teneurin transmembrane protein 1 (from RefSeq NM_011855.4) ENSMUST00000016294.1 ENSMUST00000016294.2 ENSMUST00000016294.3 ENSMUST00000016294.4 ENSMUST00000016294.5 ENSMUST00000016294.6 ENSMUST00000016294.7 NM_011855 Odz1 Q8CAT1 Q9WTS4 TEN1_MOUSE Tnm1 uc009tbc.1 uc009tbc.2 uc009tbc.3 uc009tbc.4 Involved in neural development, regulating the establishment of proper connectivity within the nervous system. May function as a cellular signal transducer (By similarity). [Teneurin C-terminal-associated peptide]: Plays a role in the regulation of neuroplasticity in the limbic system. Mediates a rapid reorganization of actin- and tubulin-based cytoskeleton elements with an increase in dendritic arborization and spine density formation of neurons in the hippocampus and amygdala. Induces BDNF transcription inhibition in neurons. Activates the mitogen-activated protein (MAP) kinase 2 (MEK2) and extracellular signal-regulated kinase (ERK) cascade. Acts also as a bioactive neuroprotective peptide on limbic neurons of the brain and regulates stress-induced behavior: attenuates alkalosis-associated necrotic cell death and the effects of corticotropin-releasing factor (CRF) on c-fos/FOS induction and on the reinstatement of cocaine seeking. [Ten-1 intracellular domain]: Induces gene transcription activation. Homodimer; disulfide-linked. Heterodimer with either TENM2 or TENM3. May also form heterodimer with TENM4. Ten-1 ICD interacts with SORBS1 (via third SH3 domain). Interacts with MBD1 isoform 2 (PubMed:15777793). Ten-1 ICD interacts with HINT1 (PubMed:31088288). [Isoform 1]: Cell membrane ; Single-pass membrane protein Note=Colocalizes with isoform 2 at the plasma membrane. [Isoform 2]: Cytoplasm. Cell membrane. Secreted Note=Transported to the cell membrane and probably secreted to function as an autocrine or paracrine signaling molecule. The lack of a hydrophobic segment sequence suggests that isoform 2 is released by damaged cells or is secreted by a mechanism differing from that used for other secretory proteins. [Ten-1 intracellular domain]: Nucleus Nucleus speckle Nucleus matrix Cytoplasm, cytoskeleton [Teneurin C-terminal-associated peptide]: Nucleus Cytoplasm. Cell membrane. Note=Colocalizes with isoform 1 at the plasma membrane. Colocalizes with the dystroglycan complex at the cell membrane in hippocampal cells. Binds hippocampal cell membranes and is incorporated in the cytoplasm by endocytosis in a caveoli-dependent manner. Upon cell internalization is transported arround and in the nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9WTS4-1; Sequence=Displayed; Name=2; Synonyms=TCAP-1; IsoId=Q9WTS4-2; Sequence=VSP_045018; Isoform 1 and isoform 2 are expressed in the brain. Isoform 2 is expressed in the granular layer of the dentate gyrus and the pyramidal layer (Py) of the CA1, CA2 and CA3 of the hippocampus (at protein level). Expressed in the cortex, thalamus, CA1, CA2, CA3, dentate gyrus and granular layer of the hippocampus. Weakly expressed in kidney, testis and lung. Isoform 1 and isoform 2 are expressed in hippocampal cells at 14 dpc (at protein level). EGF-like domains 2 and 5 which have an odd number of cysteines might enable the formation of intermolecular disulfide bonds. Cytoplasmic proline-rich regions could serve as docking domains for intracellular SH3-containing proteins. [Isoform 2]: Once secreted, may also be cleaved to give rise to the TCAP-1 form. [Teneurin C-terminal-associated peptide]: Derives from the plasma membrane form by proteolytic processing. Further proteolytic cleavage may generate 11.9 and 4.7 kDa bioactive peptides. [Teneurin C-terminal-associated peptide]: Binds to the plasma membrane and may be internalized by a receptor- and caveolae- mediated endocytosis manner to reach cytosolic compartments in a dynamin-dependent manner. Belongs to the tenascin family. Teneurin subfamily. extracellular region nucleus cytoplasm endoplasmic reticulum Golgi apparatus cytoskeleton plasma membrane integral component of plasma membrane regulation of transcription from RNA polymerase III promoter heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules signal transduction neuropeptide signaling pathway membrane integral component of membrane nuclear matrix nuclear speck positive regulation of actin filament polymerization positive regulation of peptidyl-serine phosphorylation protein homodimerization activity neuron projection positive regulation of MAP kinase activity protein heterodimerization activity perinuclear region of cytoplasm neuron development cell adhesion molecule binding positive regulation of filopodium assembly positive regulation of intracellular protein transport uc009tbc.1 uc009tbc.2 uc009tbc.3 uc009tbc.4 
ENSMUST00000016309.16 Tmbim1 ENSMUST00000016309.16 transmembrane BAX inhibitor motif containing 1 (from RefSeq NM_027154.5) ENSMUST00000016309.1 ENSMUST00000016309.10 ENSMUST00000016309.11 ENSMUST00000016309.12 ENSMUST00000016309.13 ENSMUST00000016309.14 ENSMUST00000016309.15 ENSMUST00000016309.2 ENSMUST00000016309.3 ENSMUST00000016309.4 ENSMUST00000016309.5 ENSMUST00000016309.6 ENSMUST00000016309.7 ENSMUST00000016309.8 ENSMUST00000016309.9 NM_027154 Q3U717 Q3U717_MOUSE Tmbim1 uc007blv.1 uc007blv.2 uc007blv.3 uc007blv.4 Membrane ; Multi- pass membrane protein Belongs to the BI1 family. death receptor binding lysosomal membrane Golgi apparatus endosome membrane membrane integral component of membrane intracellular membrane-bounded organelle negative regulation of extrinsic apoptotic signaling pathway via death domain receptors negative regulation of Fas signaling pathway negative regulation of protein localization to plasma membrane uc007blv.1 uc007blv.2 uc007blv.3 uc007blv.4 
ENSMUST00000016323.11 Camk1g ENSMUST00000016323.11 calcium/calmodulin-dependent protein kinase I gamma, transcript variant 2 (from RefSeq NM_144817.3) ENSMUST00000016323.1 ENSMUST00000016323.10 ENSMUST00000016323.2 ENSMUST00000016323.3 ENSMUST00000016323.4 ENSMUST00000016323.5 ENSMUST00000016323.6 ENSMUST00000016323.7 ENSMUST00000016323.8 ENSMUST00000016323.9 KCC1G_MOUSE NM_144817 Q91VB2 uc007eel.1 uc007eel.2 uc007eel.3 Calcium/calmodulin-dependent protein kinase belonging to a proposed calcium-triggered signaling cascade. In vitro phosphorylates transcription factor CREB1. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.17; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.17; Evidence=; Activated by Ca(2+)/calmodulin. Binding of calmodulin is thought to result in a conformational change and leads to activation through phosphorylation by CAMKK1. Cytoplasm Golgi apparatus membrane ; Peripheral membrane protein Cell membrane ; Peripheral membrane protein Highly expressed in brain, in neuronal cell bodies of the central nucleus of amygdala and ventromedial hypothalamic nucleus. Also detected in heart, testis, and kidney. Expression starts at 11 dpc in parallel with the onset of development of the central nervous system. The autoinhibitory domain overlaps with the calmodulin binding region and interacts in the inactive folded state with the catalytic domain as a pseudosubstrate. May be prenylated on Cys-474. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. CaMK subfamily. Golgi membrane nucleotide binding catalytic activity protein kinase activity protein serine/threonine kinase activity calmodulin-dependent protein kinase activity calmodulin binding ATP binding cytoplasm Golgi apparatus plasma membrane calcium- and calmodulin-dependent protein kinase complex protein phosphorylation metabolic process endomembrane system membrane kinase activity phosphorylation transferase activity neuron projection uc007eel.1 uc007eel.2 uc007eel.3 
ENSMUST00000016383.10 Lonrf3 ENSMUST00000016383.10 LON peptidase N-terminal domain and ring finger 3 (from RefSeq NM_028894.1) ENSMUST00000016383.1 ENSMUST00000016383.2 ENSMUST00000016383.3 ENSMUST00000016383.4 ENSMUST00000016383.5 ENSMUST00000016383.6 ENSMUST00000016383.7 ENSMUST00000016383.8 ENSMUST00000016383.9 LONF3_MOUSE NM_028894 Q9D4H7 Rnf127 uc009sxn.1 uc009sxn.2 uc009sxn.3 metal ion binding uc009sxn.1 uc009sxn.2 uc009sxn.3 
ENSMUST00000016396.8 Atp5f1e ENSMUST00000016396.8 ATP synthase F1 subunit epsilon (from RefSeq NM_025983.3) Atp5e Atp5f1e ENSMUST00000016396.1 ENSMUST00000016396.2 ENSMUST00000016396.3 ENSMUST00000016396.4 ENSMUST00000016396.5 ENSMUST00000016396.6 ENSMUST00000016396.7 NM_025983 Q545F5 Q545F5_MOUSE uc008off.1 uc008off.2 uc008off.3 Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits. Belongs to the eukaryotic ATPase epsilon family. mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) mitochondrial proton-transporting ATP synthase complex ATP synthesis coupled proton transport ATPase activity proton-transporting ATP synthase activity, rotational mechanism uc008off.1 uc008off.2 uc008off.3 
ENSMUST00000016399.6 Tubb1 ENSMUST00000016399.6 tubulin, beta 1 class VI (from RefSeq NM_001080971.2) A2AQ07 ENSMUST00000016399.1 ENSMUST00000016399.2 ENSMUST00000016399.3 ENSMUST00000016399.4 ENSMUST00000016399.5 NM_001080971 TBB1_MOUSE uc008ofe.1 uc008ofe.2 uc008ofe.3 uc008ofe.4 Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Interacts with RANBP10. Cytoplasm, cytoskeleton The MREI motif is common among all beta-tubulin isoforms and may be critical for tubulin autoregulation. Some glutamate residues at the C-terminus are polyglycylated, resulting in polyglycine chains on the gamma-carboxyl group. Glycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering polyglycylation levels increases polyglutamylation, and reciprocally. Cilia and flagella glycylation is required for their stability and maintenance. Flagella glycylation controls sperm motility (PubMed:33414192). Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:15890843). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (By similarity). Glutamylation is also involved in cilia motility (PubMed:23897886). Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules. Belongs to the tubulin family. nucleotide binding microtubule cytoskeleton organization mitotic cell cycle GTPase activity structural constituent of cytoskeleton GTP binding cytoplasm cytoskeleton microtubule microtubule-based process spindle assembly uc008ofe.1 uc008ofe.2 uc008ofe.3 uc008ofe.4 
ENSMUST00000016400.9 Ctsz ENSMUST00000016400.9 cathepsin Z (from RefSeq NM_022325.5) CATZ_MOUSE ENSMUST00000016400.1 ENSMUST00000016400.2 ENSMUST00000016400.3 ENSMUST00000016400.4 ENSMUST00000016400.5 ENSMUST00000016400.6 ENSMUST00000016400.7 ENSMUST00000016400.8 NM_022325 Q9WUU7 uc008ofd.1 uc008ofd.2 uc008ofd.3 uc008ofd.4 This gene encodes a member of the peptidase C1 (papain) family of cysteine proteases. The encoded preproprotein is proteolytically processed to generate a mature enzyme with carboxypeptidase activity. An enzymatically inactive form of the protein, that is associated with the propeptide, may be involved in cancer cell invasion and proliferation. Homozygous knockout mice for this gene exhibit impaired cancer cell invasion in a breast cancer model. [provided by RefSeq, Aug 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC008619.1, AK159618.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Exhibits carboxy-monopeptidase as well as carboxy-dipeptidase activity (By similarity). Capable of producing kinin potentiating peptides (By similarity). Reaction=Release of C-terminal amino acid residues with broad specificity, but lacks action on C-terminal proline. Shows weak endopeptidase activity.; EC=3.4.18.1; Evidence=; The disulfide bridge formed between Cys-35 in the propeptide and the active site residue Cys-94 may prevent activation of the zymogen through formation of a reversible covalent bond with the active site residue. Lysosome. Ubiquitous. Belongs to the peptidase C1 family. carboxypeptidase activity cysteine-type endopeptidase activity extracellular space lysosome endoplasmic reticulum proteolysis peptidase activity cysteine-type peptidase activity cell surface negative regulation of plasminogen activation negative regulation of neuron projection development hydrolase activity growth cone cytoplasmic vesicle negative regulation of protein binding intracellular membrane-bounded organelle positive regulation of neuron apoptotic process proteolysis involved in cellular protein catabolic process epithelial tube branching involved in lung morphogenesis cell cortex region regulation of neuron death positive regulation of neural precursor cell proliferation uc008ofd.1 uc008ofd.2 uc008ofd.3 uc008ofd.4 
ENSMUST00000016401.15 Prelid3b ENSMUST00000016401.15 PRELI domain containing 3B (from RefSeq NM_025531.2) A2ADM7 ENSMUST00000016401.1 ENSMUST00000016401.10 ENSMUST00000016401.11 ENSMUST00000016401.12 ENSMUST00000016401.13 ENSMUST00000016401.14 ENSMUST00000016401.2 ENSMUST00000016401.3 ENSMUST00000016401.4 ENSMUST00000016401.5 ENSMUST00000016401.6 ENSMUST00000016401.7 ENSMUST00000016401.8 ENSMUST00000016401.9 NM_025531 PLD3B_MOUSE Q3UC64 Q9CRD3 Q9CYY7 Slmo2 uc008ofg.1 uc008ofg.2 uc008ofg.3 Belongs to the slowmo family. mitochondrion mitochondrial intermembrane space phospholipid transport phosphatidic acid transporter activity uc008ofg.1 uc008ofg.2 uc008ofg.3 
ENSMUST00000016452.11 Ube2a ENSMUST00000016452.11 ubiquitin-conjugating enzyme E2A, transcript variant 1 (from RefSeq NM_019668.4) ENSMUST00000016452.1 ENSMUST00000016452.10 ENSMUST00000016452.2 ENSMUST00000016452.3 ENSMUST00000016452.4 ENSMUST00000016452.5 ENSMUST00000016452.6 ENSMUST00000016452.7 ENSMUST00000016452.8 ENSMUST00000016452.9 NM_019668 Q9Z255 Rad6a UBE2A_MOUSE uc009sxv.1 uc009sxv.2 uc009sxv.3 uc009sxv.4 Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys- 120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes 'Lys-11', as well as 'Lys-48'-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA. Reaction=S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin- activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin- conjugating enzyme]-L-cysteine.; EC=2.3.2.23; Evidence= Protein modification; protein ubiquitination. Interacts with RAD18 and WAC (By similarity). Interacts with RFPL4A and CCNB1 (PubMed:12525704). Phosphorylation at Ser-120 by CDK9 increases activity towards histone H2B. Belongs to the ubiquitin-conjugating enzyme family. nucleotide binding protein polyubiquitination chromatin nuclear chromatin in utero embryonic development XY body blastocyst hatching ubiquitin-protein transferase activity protein binding ATP binding DNA repair cellular response to DNA damage stimulus positive regulation of cell proliferation response to UV protein ubiquitination transferase activity ubiquitin protein ligase binding HULC complex histone H2A ubiquitination proteasome-mediated ubiquitin-dependent protein catabolic process protein autoubiquitination maternal process involved in female pregnancy ubiquitin conjugating enzyme activity protein K48-linked ubiquitination protein K11-linked ubiquitination uc009sxv.1 uc009sxv.2 uc009sxv.3 uc009sxv.4 
ENSMUST00000016463.4 Slc25a5 ENSMUST00000016463.4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 5 (from RefSeq NM_007451.4) ENSMUST00000016463.1 ENSMUST00000016463.2 ENSMUST00000016463.3 NM_007451 Q545A2 Q545A2_MOUSE Slc25a5 uc009sxs.1 uc009sxs.2 uc009sxs.3 uc009sxs.4 This gene encodes a transmembrane domain-containing protein that localizes to the mitochondrial inner membrane. The encoded protein facilitates the exchange of ADP from the cytoplasm with ATP from the mitochondria. Pseudogenes for this gene are found on multiple chromosomes. [provided by RefSeq, May 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK012751.1, BC004570.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalyzes the exchange of ADP and ATP across the membrane. Reaction=ADP(in) + ATP(out) = ADP(out) + ATP(in); Xref=Rhea:RHEA:34999, ChEBI:CHEBI:30616, ChEBI:CHEBI:456216; Evidence=; Reaction=H(+)(in) = H(+)(out); Xref=Rhea:RHEA:34979, ChEBI:CHEBI:15378; Evidence=; Monomer. Membrane ulti-pass membrane protein Belongs to the mitochondrial carrier (TC 2.A.29) family. Lacks conserved residue(s) required for the propagation of feature annotation. mitochondrion mitochondrial inner membrane positive regulation of cell proliferation membrane integral component of membrane transmembrane transporter activity ubiquitin protein ligase binding mitochondrial nucleoid membrane raft transmembrane transport MMXD complex negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway uc009sxs.1 uc009sxs.2 uc009sxs.3 uc009sxs.4 
ENSMUST00000016488.13 Ppdpf ENSMUST00000016488.13 pancreatic progenitor cell differentiation and proliferation factor, transcript variant 1 (from RefSeq NM_025598.3) ENSMUST00000016488.1 ENSMUST00000016488.10 ENSMUST00000016488.11 ENSMUST00000016488.12 ENSMUST00000016488.2 ENSMUST00000016488.3 ENSMUST00000016488.4 ENSMUST00000016488.5 ENSMUST00000016488.6 ENSMUST00000016488.7 ENSMUST00000016488.8 ENSMUST00000016488.9 Exdpf NM_025598 PPDPF_MOUSE Q58EU5 Q9CR37 uc008oli.1 uc008oli.2 uc008oli.3 uc008oli.4 Probable regulator of exocrine pancreas development. Belongs to the PPDPF family. molecular_function cellular_component multicellular organism development cell differentiation uc008oli.1 uc008oli.2 uc008oli.3 uc008oli.4 
ENSMUST00000016498.5 Srms ENSMUST00000016498.5 src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (from RefSeq NM_011481.3) ENSMUST00000016498.1 ENSMUST00000016498.2 ENSMUST00000016498.3 ENSMUST00000016498.4 NM_011481 Q0VBH4 Q0VBH4_MOUSE Srms uc008oll.1 uc008oll.2 uc008oll.3 Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.2; Evidence= Belongs to the protein kinase superfamily. Tyr protein kinase family. nucleotide binding protein kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity ATP binding cytoplasm protein phosphorylation kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation peptidyl-tyrosine autophosphorylation uc008oll.1 uc008oll.2 uc008oll.3 
ENSMUST00000016511.6 Ptk6 ENSMUST00000016511.6 PTK6 protein tyrosine kinase 6, transcript variant 1 (from RefSeq NM_009184.2) ENSMUST00000016511.1 ENSMUST00000016511.2 ENSMUST00000016511.3 ENSMUST00000016511.4 ENSMUST00000016511.5 NM_009184 PTK6_MOUSE Q64434 Sik uc008olk.1 uc008olk.2 uc008olk.3 Non-receptor tyrosine-protein kinase implicated in the regulation of a variety of signaling pathways that control the differentiation and maintenance of normal epithelia, as well as tumor growth. Function seems to be context dependent and differ depending on cell type, as well as its intracellular localization. A number of potential nuclear and cytoplasmic substrates have been identified. These include the RNA-binding proteins: KHDRBS1/SAM68, KHDRBS2/SLM1, KHDRBS3/SLM2 and SFPQ/PSF; transcription factors: STAT3 and STAT5A/B and a variety of signaling molecules: ARHGAP35/p190RhoGAP, PXN/paxillin, BTK/ATK, STAP2/BKS. Associates also with a variety of proteins that are likely upstream of PTK6 in various signaling pathways, or for which PTK6 may play an adapter-like role. These proteins include ADAM15, EGFR, ERBB2, ERBB3 and IRS4. In normal or non- tumorigenic tissues, PTK6 promotes cellular differentiation and apoptosis. In tumors PTK6 contributes to cancer progression by sensitizing cells to mitogenic signals and enhancing proliferation, anchorage-independent survival and migration/invasion. Association with EGFR, ERBB2, ERBB3 may contribute to mammary tumor development and growth through enhancement of EGF-induced signaling via BTK/AKT and PI3 kinase. Contributes to migration and proliferation by contributing to EGF-mediated phosphorylation of ARHGAP35/p190RhoGAP, which promotes association with RASA1/p120RasGAP, inactivating RhoA while activating RAS. EGF stimulation resulted in phosphorylation of PNX/Paxillin by PTK6 and activation of RAC1 via CRK/CrKII, thereby promoting migration and invasion. PTK6 activates STAT3 and STAT5B to promote proliferation. Nuclear PTK6 may be important for regulating growth in normal epithelia, while cytoplasmic PTK6 might activate oncogenic signaling pathways. Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.2; Evidence=; Activated by EGF, NRG1 and IGF1. Inhibited by SOCS3 to phosphorylate STAT3. Stabilized in the inactive form by an association between the SH3 domain and the SH2-TK linker region. Interaction between Trp-184 within SH2-TK linker region and the catalytic domain appears essential for positive regulation of kinase activity. Interacts with KHDRBS1. Interacts with phosphorylated IRS4 (By similarity). Interacts with GAP-A.p65. Interacts with ADAM15 (By similarity). Interacts (via SH3 and SH2 domains) with phosphorylated IRS4 (By similarity). Interacts (via SH3 domain) with SFPQ (By similarity). Interacts with EGFR and ERBB2 (By similarity). Interacts with STAP2 (By similarity). Interacts with PNX (By similarity). Interacts with SFPQ (By similarity). Interacts with PTK/ATK (By similarity). Interacts with CTNNB1 (By similarity). Cytoplasm. Nucleus. Membrane. Cell projection, ruffle Note=Also found to be membrane-associated. Colocalizes with KHDRBS1, within the nucleus. Expressed only in epithelial tissues, including the skin and lining of the alimentary canal. Restricted to the cell layers immediately above the proliferative cell zone in these epithelia. First detected at day 15.5 of gestation in the embryo, where it is expressed in the newly forming granular layer of the skin. Is found in stomach at day 17.5. The SH3 domain plays a major role in substrate interactions. The SH2 domain of PTK6 plays a role in protein-protein interactions, but is likely more important for the regulation of catalytic activity (By similarity). Autophosphorylated. Autophosphorylation of Tyr-342 leads to an increase of kinase activity. Tyr-447 binds to the SH2 domain when phosphorylated and negatively regulates kinase activity (By similarity). Deficient mice have an increased cell turnover in the small intestine, which is accompanied by increased villus length and crypt depth and delayed enterocyte differentiation that is accompanied by increased PTK/AKT and WNT signaling. Belongs to the protein kinase superfamily. Tyr protein kinase family. BRK/PTK6/SIK subfamily. nucleotide binding ruffle protein kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity receptor binding ATP binding nucleus nucleoplasm cytoplasm cytosol plasma membrane protein phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway tyrosine phosphorylation of STAT protein positive regulation of neuron projection development membrane kinase activity phosphorylation cell migration nuclear body transferase activity cell differentiation extrinsic component of cytoplasmic side of plasma membrane peptidyl-tyrosine autophosphorylation regulation of cell proliferation identical protein binding cell projection negative regulation of growth protein autophosphorylation intestinal epithelial cell differentiation negative regulation of protein tyrosine kinase activity cellular response to retinoic acid uc008olk.1 uc008olk.2 uc008olk.3 
ENSMUST00000016553.5 Nkap ENSMUST00000016553.5 NFKB activating protein (from RefSeq NM_025937.4) ENSMUST00000016553.1 ENSMUST00000016553.2 ENSMUST00000016553.3 ENSMUST00000016553.4 NKAP_MOUSE NM_025937 Q8BTK6 Q8BYT5 Q8R324 Q9CSH4 Q9D0F4 uc009syg.1 uc009syg.2 uc009syg.3 uc009syg.4 Acts as a transcriptional repressor. Plays a role as a transcriptional corepressor of the Notch-mediated signaling required for T-cell development. Also involved in the TNF and IL-1 induced NF- kappa-B activation. Associates with chromatin at the Notch-regulated SKP2 promoter (By similarity). Component of the Notch corepressor complex. Interacts with CIR1 and HDAC3 (By similarity). Nucleus Belongs to the NKAP family. negative regulation of transcription from RNA polymerase II promoter chromatin binding nucleus nucleoplasm cytosol Notch signaling pathway stem cell population maintenance hemopoiesis granulocyte differentiation chromatin DNA binding T cell differentiation in thymus negative regulation of transcription, DNA-templated positive regulation of alpha-beta T cell differentiation hematopoietic stem cell proliferation uc009syg.1 uc009syg.2 uc009syg.3 uc009syg.4 
ENSMUST00000016571.8 Ndufa1 ENSMUST00000016571.8 NADH:ubiquinone oxidoreductase subunit A1 (from RefSeq NM_019443.2) ENSMUST00000016571.1 ENSMUST00000016571.2 ENSMUST00000016571.3 ENSMUST00000016571.4 ENSMUST00000016571.5 ENSMUST00000016571.6 ENSMUST00000016571.7 NM_019443 Ndufa1 Q545K0 Q545K0_MOUSE uc009syi.1 uc009syi.2 uc009syi.3 uc009syi.4 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Complex I is composed of 45 different subunits. Mitochondrion inner membrane ; Single-pass membrane protein ; Matrix side Belongs to the complex I NDUFA1 subunit family. mitochondrion mitochondrial respiratory chain complex I cytosol membrane integral component of membrane mitochondrial membrane mitochondrial respiratory chain complex I assembly uc009syi.1 uc009syi.2 uc009syi.3 uc009syi.4 
ENSMUST00000016631.14 Ppfibp1 ENSMUST00000016631.14 PTPRF interacting protein, binding protein 1 (liprin beta 1), transcript variant 2 (from RefSeq NM_026221.2) ENSMUST00000016631.1 ENSMUST00000016631.10 ENSMUST00000016631.11 ENSMUST00000016631.12 ENSMUST00000016631.13 ENSMUST00000016631.2 ENSMUST00000016631.3 ENSMUST00000016631.4 ENSMUST00000016631.5 ENSMUST00000016631.6 ENSMUST00000016631.7 ENSMUST00000016631.8 ENSMUST00000016631.9 Kiaa1230 LIPB1_MOUSE NM_026221 Q69ZN5 Q6GQV3 Q80VB4 Q8C8U0 Q9CUT7 uc009esm.1 uc009esm.2 uc009esm.3 uc009esm.4 May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A (By similarity). Forms homodimers and heterodimers. Interacts with S100A4 in a calcium-dependent mode (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8C8U0-1; Sequence=Displayed; Name=2; IsoId=Q8C8U0-2; Sequence=VSP_012095; Name=3; IsoId=Q8C8U0-3; Sequence=VSP_012096; The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type beta/beta. The C-terminal, non-coiled coil regions mediate heterodimerization type beta/alpha and interaction with S100A4 (By similarity). Belongs to the liprin family. Liprin-beta subfamily. Sequence=BAD32411.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; uc009esm.1 uc009esm.2 uc009esm.3 uc009esm.4 
ENSMUST00000016638.8 Cd34 ENSMUST00000016638.8 CD34 antigen, transcript variant 2 (from RefSeq NM_133654.4) CD34_MOUSE ENSMUST00000016638.1 ENSMUST00000016638.2 ENSMUST00000016638.3 ENSMUST00000016638.4 ENSMUST00000016638.5 ENSMUST00000016638.6 ENSMUST00000016638.7 NM_133654 Q62550 Q62551 Q64314 uc007eeq.1 uc007eeq.2 uc007eeq.3 uc007eeq.4 Possible adhesion molecule with a role in early hematopoiesis by mediating the attachment of stem cells to the bone marrow extracellular matrix or directly to stromal cells. Could act as a scaffold for the attachment of lineage specific glycans, allowing stem cells to bind to lectins expressed by stromal cells or other marrow components. Presents carbohydrate ligands to selectins (By similarity). Membrane; Single-pass type I membrane protein. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=Q64314-1; Sequence=Displayed; Name=Short; IsoId=Q64314-2; Sequence=VSP_004161, VSP_004162; Expressed in the kidney where it is detected in the thin limb of Henle's loop (at protein level) (PubMed:31605441). Highly expressed in hematopoietic progenitor cell lines, brain and testis, and moderately in the thymus, spleen, and bone marrow, but not in adult liver (PubMed:1709048). Highly glycosylated. Phosphorylated on serine residues by PKC. Belongs to the CD34 family. tissue homeostasis endothelial cell proliferation glomerular filtration endothelium development extracellular region cytoplasm lysosome plasma membrane cell adhesion signal transduction transcription factor binding regulation of blood pressure cell proliferation external side of plasma membrane basal plasma membrane cell surface positive regulation of gene expression negative regulation of gene expression membrane integral component of membrane apical plasma membrane hemopoiesis negative regulation of blood coagulation carbohydrate binding negative regulation of tumor necrosis factor production positive regulation of interleukin-10 production mesangial cell-matrix adhesion glomerular endothelium fenestra paracrine signaling positive regulation of odontogenesis sulfate binding negative regulation of nitric oxide biosynthetic process intercellular bridge positive regulation of angiogenesis perinuclear region of cytoplasm cell motility leukocyte migration transdifferentiation vascular wound healing hematopoietic stem cell proliferation positive regulation of transforming growth factor beta production positive regulation of granulocyte colony-stimulating factor production cell periphery extracellular exosome assembly glomerular endothelium development stem cell proliferation metanephric glomerular mesangial cell differentiation cell-cell adhesion negative regulation of cellular response to heat negative regulation of cellular response to hypoxia negative regulation of interleukin-2 secretion positive regulation of glial cell-derived neurotrophic factor secretion negative regulation of neuron death positive regulation of vasculogenesis uc007eeq.1 uc007eeq.2 uc007eeq.3 uc007eeq.4 
ENSMUST00000016640.8 Cd274 ENSMUST00000016640.8 CD274 antigen (from RefSeq NM_021893.3) B7h1 ENSMUST00000016640.1 ENSMUST00000016640.2 ENSMUST00000016640.3 ENSMUST00000016640.4 ENSMUST00000016640.5 ENSMUST00000016640.6 ENSMUST00000016640.7 NM_021893 PD1L1_MOUSE Pdcd1l1 Pdcd1lg1 Pdl1 Q9EP73 uc008hdi.1 uc008hdi.2 uc008hdi.3 uc008hdi.4 uc008hdi.5 The protein encoded by this gene is an immune inhibitory receptor ligand that is expressed by hematopoietic and non-hematopoietic cells, such as T cells and B cells and various types of tumor cells. The encoded protein is a type I transmembrane protein that has immunoglobulin V-like and C-like domains. Interaction of this ligand with its receptor inhibits T-cell activation and cytokine production. During infection or inflammation of normal tissue, this interaction is important for preventing autoimmunity by maintaining homeostasis of the immune response. In tumor microenvironments, this interaction provides an immune escape for tumor cells through cytotoxic T-cell inactivation. Mice deficient for this gene display a variety of phenotypes including decreased allogeneic fetal survival rates and severe experimental autoimmune encephalomyelitis. [provided by RefSeq, Sep 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC066841.1, AK154403.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849377 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Plays a critical role in induction and maintenance of immune tolerance to self (PubMed:11238124). As a ligand for the inhibitory receptor PDCD1/PD-1, modulates the activation threshold of T-cells and limits T-cell effector response (PubMed:11238124). Through a yet unknown activating receptor, may costimulate T-cell subsets that predominantly produce interleukin-10 (IL10) (PubMed:11015443, PubMed:12719480). The PDCD1-mediated inhibitory pathway is exploited by tumors to attenuate anti-tumor immunity and escape destruction by the immune system, thereby facilitating tumor survival (PubMed:12218188, PubMed:27281199). The interaction with PDCD1/PD-1 inhibits cytotoxic T lymphocytes (CTLs) effector function (PubMed:12218188). The blockage of the PDCD1-mediated pathway results in the reversal of the exhausted T- cell phenotype and the normalization of the anti-tumor response, providing a rationale for cancer immunotherapy (PubMed:12218188). Interacts with PDCD1 (PubMed:11015443). Interacts with CMTM4 and CMTM6 (By similarity). Q9EP73; Q00609: Cd80; NbExp=7; IntAct=EBI-5258879, EBI-5258929; Q9EP73; Q02242: Pdcd1; NbExp=3; IntAct=EBI-5258879, EBI-5258903; Cell membrane ; Single-pass type I membrane protein Early endosome membrane ; Single-pass type I membrane protein Recycling endosome membrane ; Single-pass type I membrane protein Highly expressed in the heart, thymus, skeletal muscle, and lung. Weakly expressed in the kidney, spleen, thyroid, and liver. Expressed on activated dendritic cells, B-cells and macrophages. Expressed in numerous tumor cells lines of lymphoid origin. Up-regulated by IFNG treatment in monocytes. Up-regulated on dendritic cells, B-cells and macrophages after activation by LPS and IFNG. Ubiquitinated; STUB1 likely mediates polyubiquitination of PD- L1/CD274 triggering its degradation. Ubiquitinated by MARCHF8; leading to degradation. Belongs to the immunoglobulin superfamily. BTN/MOG family. adaptive immune response immune system process positive regulation of tolerance induction to tumor cell protein binding endosome plasma membrane immune response signal transduction cell surface receptor signaling pathway external side of plasma membrane cell surface membrane integral component of membrane positive regulation of cell migration T cell costimulation early endosome membrane negative regulation of interferon-gamma production negative regulation of interleukin-10 production response to cytokine positive regulation of T cell proliferation negative regulation of T cell proliferation negative regulation of activated T cell proliferation recycling endosome membrane extracellular exosome cellular response to lipopolysaccharide toxin transport negative regulation of tumor necrosis factor superfamily cytokine production positive regulation of activated CD8-positive, alpha-beta T cell apoptotic process negative regulation of CD4-positive, alpha-beta T cell proliferation positive regulation of interleukin-10 secretion negative regulation of CD8-positive, alpha-beta T cell activation uc008hdi.1 uc008hdi.2 uc008hdi.3 uc008hdi.4 uc008hdi.5 
ENSMUST00000016664.8 Lnx2 ENSMUST00000016664.8 ligand of numb-protein X 2, transcript variant 4 (from RefSeq NR_188904.1) A6PW04 ENSMUST00000016664.1 ENSMUST00000016664.2 ENSMUST00000016664.3 ENSMUST00000016664.4 ENSMUST00000016664.5 ENSMUST00000016664.6 ENSMUST00000016664.7 LNX2_MOUSE NR_188904 Q8CBE1 Q91XL2 uc009ant.1 uc009ant.2 uc009ant.3 uc009ant.4 Interacts with the phosphotyrosine interaction domain of NUMB. Widely expressed. The NPXY motif is required for the interaction with the PID domain of NUMB. It is however not sufficient. protein binding cellular_component PDZ domain binding identical protein binding metal ion binding uc009ant.1 uc009ant.2 uc009ant.3 uc009ant.4 
ENSMUST00000016670.9 Dyrk3 ENSMUST00000016670.9 dual-specificity tyrosine phosphorylation regulated kinase 3, transcript variant 1 (from RefSeq NM_145508.3) DYRK3_MOUSE Dyrk3 ENSMUST00000016670.1 ENSMUST00000016670.2 ENSMUST00000016670.3 ENSMUST00000016670.4 ENSMUST00000016670.5 ENSMUST00000016670.6 ENSMUST00000016670.7 ENSMUST00000016670.8 NM_145508 Q8BM34 Q922Y0 uc007cmw.1 uc007cmw.2 uc007cmw.3 Dual-specificity protein kinase that promotes disassembly of several types of membraneless organelles during mitosis, such as stress granules, nuclear speckles and pericentriolar material (By similarity). Dual-specificity tyrosine-regulated kinases (DYRKs) autophosphorylate a critical tyrosine residue in their activation loop and phosphorylate their substrate on serine and threonine residues (PubMed:12356771). Acts as a central dissolvase of membraneless organelles during the G2- to-M transition, after the nuclear-envelope breakdown: acts by mediating phosphorylation of multiple serine and threonine residues in unstructured domains of proteins, such as SRRM1 and PCM1 (By similarity). Does not mediate disassembly of all membraneless organelles: disassembly of P-body and nucleolus is not regulated by DYRK3 (By similarity). Dissolution of membraneless organelles at the onset of mitosis is also required to release mitotic regulators, such as ZNF207, from liquid-unmixed organelles where they are sequestered and keep them dissolved during mitosis (By similarity). Regulates mTORC1 by mediating the dissolution of stress granules: during stressful conditions, DYRK3 partitions from the cytosol to the stress granule, together with mTORC1 components, which prevents mTORC1 signaling (By similarity). When stress signals are gone, the kinase activity of DYRK3 is required for the dissolution of stress granule and mTORC1 relocation to the cytosol: acts by mediating the phosphorylation of the mTORC1 inhibitor AKT1S1, allowing full reactivation of mTORC1 signaling (By similarity). Also acts as a negative regulator of EPO- dependent erythropoiesis: may place an upper limit on red cell production during stress erythropoiesis (By similarity). Inhibits cell death due to cytokine withdrawal in hematopoietic progenitor cells (By similarity). Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1: this in turn inhibits p53/TP53 activity and apoptosis (PubMed:20167603). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.12.1; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.12.1; Evidence= Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.12.1; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Protein kinase activity is activated following autophosphorylation at Tyr-368. Interacts with SIRT1. Q922Y0; Q923E4: Sirt1; NbExp=7; IntAct=EBI-5242007, EBI-1802585; Nucleus Cytoplasm Nucleus speckle Cytoplasmic granule Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Note=Associates with membraneless organelles in the cytoplasm and nucleus. Shuttles between cytoplasm and stress granules. Localized predominantly on distinct speckles distributed throughout the cytoplasm of the cell. At low concentration, showns a homogeneous distribution throughout the cytoplasm and does not condense in speckles. During oxidative and osmotic stress, localizes to stress granules. The N-terminal domain, which is intrinsically disordered, is required for stress granule localization. Ubiquitinated at anaphase by the anaphase-promoting complex (APC/C), leading to its degradation by the proteasome. Protein kinase activity is activated following autophosphorylation at Tyr-368. Mice exhibit unperturbed steady-state erythropoiesis but significantly increased reticulocyte production during stress erythropoiesis and appear to be partially protected against anemia. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily. nucleotide binding pericentriolar material magnesium ion binding protein kinase activity protein serine/threonine kinase activity protein serine/threonine/tyrosine kinase activity protein tyrosine kinase activity protein binding ATP binding nucleus nucleoplasm cytoplasm microtubule organizing center cytosol cytoskeleton protein phosphorylation cell cycle cytoplasmic stress granule kinase activity phosphorylation nuclear speck transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation peptidyl-tyrosine phosphorylation erythrocyte differentiation nuclear speck organization stress granule disassembly negative regulation of apoptotic process intracellular membrane-bounded organelle negative regulation of DNA damage response, signal transduction by p53 class mediator metal ion binding cell division regulation of cellular response to stress positive regulation of cell cycle G2/M phase transition organelle disassembly regulation of TORC1 signaling uc007cmw.1 uc007cmw.2 uc007cmw.3 
ENSMUST00000016672.11 Mapkapk2 ENSMUST00000016672.11 MAP kinase-activated protein kinase 2 (from RefSeq NM_008551.2) ENSMUST00000016672.1 ENSMUST00000016672.10 ENSMUST00000016672.2 ENSMUST00000016672.3 ENSMUST00000016672.4 ENSMUST00000016672.5 ENSMUST00000016672.6 ENSMUST00000016672.7 ENSMUST00000016672.8 ENSMUST00000016672.9 Mapkapk2 NM_008551 Q3U2P8 Q3U2P8_MOUSE uc007cmv.1 uc007cmv.2 uc007cmv.3 uc007cmv.4 uc007cmv.5 Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. nucleotide binding protein kinase activity protein serine/threonine kinase activity ATP binding nucleus nucleoplasm cytoplasm centrosome protein phosphorylation cellular response to DNA damage stimulus peptidyl-serine phosphorylation regulation of tumor necrosis factor production response to cytokine cellular response to vascular endothelial growth factor stimulus vascular endothelial growth factor receptor signaling pathway 3'-UTR-mediated mRNA stabilization uc007cmv.1 uc007cmv.2 uc007cmv.3 uc007cmv.4 uc007cmv.5 
ENSMUST00000016673.6 Il10 ENSMUST00000016673.6 interleukin 10 (from RefSeq NM_010548.2) ENSMUST00000016673.1 ENSMUST00000016673.2 ENSMUST00000016673.3 ENSMUST00000016673.4 ENSMUST00000016673.5 IL10_MOUSE Il-10 NM_010548 P18893 Q0VBJ1 uc007cmu.1 uc007cmu.2 uc007cmu.3 uc007cmu.4 This gene encodes an anti-inflammatory cytokine that is a member of the class-2 cytokine family. The encoded protein is secreted by cells of both the innate and adaptive immune systems and is crucial for limiting the immune response to a broad range of pathogens. It also has been shown to suppress autoimmune responses. This protein mediates it's immunosuppressive signal through a specific interleukin 10 receptor complex. Aberrant functioning of this gene is associated with numerous immune disorders including graft-versus-host disease, and increased susceptibility to HIV-1 infection and rheumatoid arthritis. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK152344.1, BC120612.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164133, SAMN01164134 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Major immune regulatory cytokine that acts on many cells of the immune system where it has profound anti-inflammatory functions, limiting excessive tissue disruption caused by inflammation. Mechanistically, IL10 binds to its heterotetrameric receptor comprising IL10RA and IL10RB leading to JAK1 and STAT2-mediated phosphorylation of STAT3. In turn, STAT3 translocates to the nucleus where it drives expression of anti-inflammatory mediators. Targets antigen-presenting cells (APCs) such as macrophages and monocytes and inhibits their release of pro-inflammatory cytokines including granulocyte-macrophage colony-stimulating factor /GM-CSF, granulocyte colony-stimulating factor/G-CSF, IL-1 alpha, IL-1 beta, IL-6, IL-8 and TNF-alpha. Interferes also with antigen presentation by reducing the expression of MHC-class II and co-stimulatory molecules, thereby inhibiting their ability to induce T cell activation (By similarity). In addition, controls the inflammatory response of macrophages by reprogramming essential metabolic pathways including mTOR signaling (By similarity) (PubMed:28473584). Homodimer. Interacts with IL10RA and IL10RB. Secreted Belongs to the IL-10 family. negative regulation of cytokine production positive regulation of endothelial cell proliferation response to molecule of bacterial origin negative regulation of cytokine secretion involved in immune response negative regulation of chronic inflammatory response to antigenic stimulus positive regulation of B cell apoptotic process cytokine activity interleukin-10 receptor binding extracellular region extracellular space inflammatory response immune response signal transduction aging negative regulation of cell proliferation response to organic substance regulation of gene expression negative regulation of autophagy response to activity response to inactivity negative regulation of myeloid dendritic cell activation negative regulation of B cell proliferation response to lipopolysaccharide negative regulation of interferon-gamma production negative regulation of interleukin-12 production negative regulation of interleukin-6 production negative regulation of tumor necrosis factor production receptor biosynthetic process response to insulin negative regulation of heterotypic cell-cell adhesion response to carbon monoxide cellular response to hepatocyte growth factor stimulus response to drug negative regulation of tumor necrosis factor biosynthetic process defense response to bacterium defense response to protozoan positive regulation of macrophage activation negative regulation of apoptotic process negative regulation of nitric oxide biosynthetic process negative regulation of MHC class II biosynthetic process positive regulation of MHC class II biosynthetic process positive regulation of cell cycle positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of JAK-STAT cascade protein dimerization activity positive regulation of cytokine secretion negative regulation of inflammatory response regulation of synapse organization negative regulation of membrane protein ectodomain proteolysis positive regulation of sequence-specific DNA binding transcription factor activity response to glucocorticoid regulation of sensory perception of pain negative regulation of cytokine activity branching involved in labyrinthine layer morphogenesis cellular response to lipopolysaccharide cellular response to estradiol stimulus liver regeneration positive regulation of pri-miRNA transcription from RNA polymerase II promoter regulation of response to wounding negative regulation of hydrogen peroxide-induced neuron death positive regulation of sprouting angiogenesis negative regulation of sensory perception of pain negative regulation of vascular smooth muscle cell proliferation negative regulation of endothelial cell apoptotic process uc007cmu.1 uc007cmu.2 uc007cmu.3 uc007cmu.4 
ENSMUST00000016678.14 Lamp2 ENSMUST00000016678.14 lysosomal-associated membrane protein 2, transcript variant 4 (from RefSeq NR_152733.1) A2A430 ENSMUST00000016678.1 ENSMUST00000016678.10 ENSMUST00000016678.11 ENSMUST00000016678.12 ENSMUST00000016678.13 ENSMUST00000016678.2 ENSMUST00000016678.3 ENSMUST00000016678.4 ENSMUST00000016678.5 ENSMUST00000016678.6 ENSMUST00000016678.7 ENSMUST00000016678.8 ENSMUST00000016678.9 LAMP2_MOUSE Lamp-2 NR_152733 P17047 Q3TXG5 Q8BSG8 uc009szw.1 uc009szw.2 uc009szw.3 uc009szw.4 Lysosomal membrane glycoprotein which plays an important role in lysosome biogenesis, lysosomal pH regulation and autophagy (PubMed:10972293). Acts as an important regulator of lysosomal lumen pH regulation by acting as a direct inhibitor of the proton channel TMEM175, facilitating lysosomal acidification for optimal hydrolase activity (By similarity). Plays an important role in chaperone-mediated autophagy, a process that mediates lysosomal degradation of proteins in response to various stresses and as part of the normal turnover of proteins with a long biological half-live (By similarity). Functions by binding target proteins, such as GAPDH, NLRP3 and MLLT11, and targeting them for lysosomal degradation (By similarity). In the chaperone- mediated autophagy, acts downstream of chaperones, such as HSPA8/HSC70, which recognize and bind substrate proteins and mediate their recruitment to lysosomes, where target proteins bind LAMP2 (By similarity). Plays a role in lysosomal protein degradation in response to starvation (PubMed:27628032). Required for the fusion of autophagosomes with lysosomes during autophagy (PubMed:27628032). Cells that lack LAMP2 express normal levels of VAMP8, but fail to accumulate STX17 on autophagosomes, which is the most likely explanation for the lack of fusion between autophagosomes and lysosomes (PubMed:27628032). Required for normal degradation of the contents of autophagosomes (PubMed:10972293, PubMed:12221139). Required for efficient MHC class II-mediated presentation of exogenous antigens via its function in lysosomal protein degradation; antigenic peptides generated by proteases in the endosomal/lysosomal compartment are captured by nascent MHC II subunits (By similarity). Is not required for efficient MHC class II-mediated presentation of endogenous antigens (By similarity). Monomer. Forms large homooligomers (By similarity). Interacts (via its cytoplasmic region) with HSPA8; HSPA8 mediates recruitment of proteins with a KFERQ motif to the surface of the lysosome for chaperone-mediated autophagy (By similarity). Interacts with HSP90 in the lysosome lumen; this enhances LAMP2 stability (By similarity). Interacts with MLLT11 (By similarity). Interacts with ABCB9 (PubMed:22641697). Interacts with FURIN (By similarity). Interacts with CT55; this interaction may be important for LAMP2 protein stability (By similarity). Interacts with TMEM175; inhibiting the proton channel activity of TMEM175 (By similarity). Lysosome membrane ingle-pass type I membrane protein Endosome membrane ; Single-pass type I membrane protein Cytoplasmic vesicle, autophagosome membrane Cell membrane ; Single-pass type I membrane protein Note=This protein shuttles between lysosomes, endosomes, and the plasma membrane. Event=Alternative splicing; Named isoforms=3; Name=LAMP-2A; IsoId=P17047-1; Sequence=Displayed; Name=LAMP-2B; IsoId=P17047-2; Sequence=VSP_003045; Name=LAMP-2C; IsoId=P17047-3; Sequence=VSP_003046; Detected in liver and kidney (at protein level). Detected in liver and kidney. Extensively N-glycosylated. Contains a minor proportion of O- linked glycans. About half of the mutant mice die between 20 and 40 days after birth. Survivors are smaller, weigh 10 to 15 % less than their littermates, but show normal lifespan. Both mice that die early and long-time survivors display an accumulation of autophagic vacuoles in liver, pancreas, cardiac and skeletal muscle. Mutant mice display an increased ratio of heart weight to body weight and severely impaired contractile function of the heart muscle. Hepatocytes from mutant mice show a decreased rate of degradation of long-lived proteins. Belongs to the LAMP family. autophagosome membrane protein binding extracellular space lysosome lysosomal membrane endosome late endosome trans-Golgi network plasma membrane protein targeting autophagy cellular response to starvation endosome membrane membrane integral component of membrane enzyme binding protein domain specific binding phagocytic vesicle membrane platelet dense granule membrane cytoplasmic vesicle regulation of protein stability late endosome membrane negative regulation of protein homooligomerization autolysosome muscle cell cellular homeostasis perinuclear region of cytoplasm protein stabilization chaperone-mediated autophagy protein targeting to lysosome involved in chaperone-mediated autophagy chaperone-mediated autophagy translocation complex extracellular exosome establishment of protein localization to organelle autophagosome maturation integral component of autophagosome membrane lysosomal protein catabolic process lysosomal matrix membrane raft uc009szw.1 uc009szw.2 uc009szw.3 uc009szw.4 
ENSMUST00000016680.14 Cul4a ENSMUST00000016680.14 cullin 4A, transcript variant 1 (from RefSeq NM_146207.3) CUL4A_MOUSE Cul4a ENSMUST00000016680.1 ENSMUST00000016680.10 ENSMUST00000016680.11 ENSMUST00000016680.12 ENSMUST00000016680.13 ENSMUST00000016680.2 ENSMUST00000016680.3 ENSMUST00000016680.4 ENSMUST00000016680.5 ENSMUST00000016680.6 ENSMUST00000016680.7 ENSMUST00000016680.8 ENSMUST00000016680.9 NM_146207 Q3TCH7 Q3THM3 Q91Z44 uc009kww.1 uc009kww.2 uc009kww.3 uc009kww.4 uc009kww.5 Core component of multiple cullin-RING-based E3 ubiquitin- protein ligase complexes which mediate the ubiquitination of target proteins. As a scaffold protein may contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and is inhibited by the association of the deneddylated cullin subunit with TIP120A/CAND1. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition component. DCX(DET1-COP1) directs ubiquitination of JUN. DCX(DDB2) directs ubiquitination of XPC. DCX(DDB2) ubiquitinates histones H3-H4 and is required for efficient histone deposition during replication-coupled (H3.1) and replication- independent (H3.3) nucleosome assembly, probably by facilitating the transfer of H3 from ASF1A/ASF1B to other chaperones involved in histone deposition. DCX(DTL) plays a role in PCNA-dependent polyubiquitination of CDT1 and MDM2-dependent ubiquitination of p53/TP53 in response to radiation-induced DNA damage and during DNA replication. DCX(DTL) directs autoubiquitination of DTL. In association with DDB1 and SKP2 probably is involved in ubiquitination of CDKN1B/p27kip. Is involved in ubiquitination of HOXA9. The DDB1-CUL4A-DTL E3 ligase complex regulates the circadian clock function by mediating the ubiquitination and degradation of CRY1. A number of DCX complexes (containing either TRPC4AP or DCAF12 as substrate-recognition component) are part of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C- degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation. With CUL4B, contributes to ribosome biogenesis. The DCX(AMBRA1) complex is a master regulator of the transition from G1 to S cell phase by mediating ubiquitination of phosphorylated cyclin-D (CCND1, CCND2 and CCND3). The DCX(AMBRA1) complex also acts as a regulator of Cul5-RING (CRL5) E3 ubiquitin- protein ligase complexes by mediating ubiquitination and degradation of Elongin-C (ELOC) component of CRL5 complexes. Protein modification; protein ubiquitination. Can self-associate. Component of multiple DCX (DDB1-CUL4-X- box) E3 ubiquitin-protein ligase complexes that seem to consist of DDB1, CUL4A or CUL4B, RBX1 and a variable substrate recognition component which seems to belong to a protein family described as DCAF (Ddb1- and Cul4-associated factor) or CDW (CUL4-DDB1-associated WD40- repeat) proteins. Component of the CSA complex (DCX(ERCC8) complex) containing ERCC8, RBX1, DDB1 and CUL4A; the CSA complex interacts with RNA polymerase II; upon UV irradiation it interacts with the COP9 signalosome and preferentially with the hyperphosphorylated form of RNA polymerase II. Component of the DCX(DET1-COP1) complex with the substrate recognition component DET1 and COP1. Component of the DCX(DDB2) complex with the substrate recognition component DDB2. Component of the DCX(DTL) complex with the putative substrate recognition component DTL. Component of DCX complexes part of the DesCEND (destruction via C-end degrons) pathway, which contain either TRPC4AP or DCAF12 as substrate-recognition component. Component of the DCX(AMBRA1) complex with the substrate recognition component AMBRA1. Interacts with DDB1, RBX1, RNF7, CDT1, TIP120A/CAND1, SKP2, CDKN1B, MDM2, TP53 and HOXA9. Interacts with DDB2; the interactions with DDB2 and CAND1 are mutually exclusive. Interacts with DCAF1, DTL, DDA1, DCAF6, DCAF4, DCAF16, DCAF17, DET1, WDTC1, DCAF5, DCAF11, WDR24A, COP1, PAFAH1B1, ERCC8, GRWD1, FBXW5, RBBP7, GNB2, WSB1, WSB2, NUP43, PWP1, FBXW8, ATG16L1, KATNB1, RBBP4, RBBP5, LRWD1 and DCAF8. May interact with WDR26, WDR51B, SNRNP40, WDR61, WDR76, WDR5. Interacts (when neddylated) with ARIH1; leading to activate the E3 ligase activity of ARIH1. The DDB1-CUL4A complex interacts with CRY1. Interacts (unneddylated form) with DCUN1D1, DCUN1D2, DCUN1D3, DCUN1D4 and DCUN1D5; these interactions promote the cullin neddylation. (Microbial infection) Interacts with murine cytomegalovirus M48. Expressed in oocytes (at protein level) (PubMed:24357321). In the ovary, also expressed in cumulus cells. Expressed in testis, spleen and kidney (PubMed:24357321). Expressed at high levels in germinal vesicle (GV) stage oocytes and at lower levels in MII-stage oocytes and zygotes. Expression then decreases from 4-cell stage to blastula. Neddylated. Deneddylated via its interaction with the COP9 signalosome (CSN) complex. (Microbial infection) Deneddylated by murine cytomegalovirus M48 leading to a S-phase-like environment that is required for efficient replication of the viral genome. Belongs to the cullin family. in utero embryonic development protein binding DNA repair ubiquitin-dependent protein catabolic process cellular response to DNA damage stimulus positive regulation of cell proliferation viral process protein ubiquitination SCF ubiquitin ligase complex hemopoiesis negative regulation of granulocyte differentiation SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex Cul4A-RING E3 ubiquitin ligase complex ubiquitin protein ligase binding somatic stem cell population maintenance ribosome biogenesis proteasome-mediated ubiquitin-dependent protein catabolic process positive regulation of protein catabolic process rhythmic process regulation of protein metabolic process Cul4-RING E3 ubiquitin ligase complex positive regulation of G1/S transition of mitotic cell cycle regulation of DNA damage checkpoint regulation of nucleotide-excision repair uc009kww.1 uc009kww.2 uc009kww.3 uc009kww.4 uc009kww.5 
ENSMUST00000016681.15 Cul4b ENSMUST00000016681.15 Protein modification; protein ubiquitination. (from UniProt E9PXY1) AK012410 Cul4b E9PXY1 E9PXY1_MOUSE ENSMUST00000016681.1 ENSMUST00000016681.10 ENSMUST00000016681.11 ENSMUST00000016681.12 ENSMUST00000016681.13 ENSMUST00000016681.14 ENSMUST00000016681.2 ENSMUST00000016681.3 ENSMUST00000016681.4 ENSMUST00000016681.5 ENSMUST00000016681.6 ENSMUST00000016681.7 ENSMUST00000016681.8 ENSMUST00000016681.9 uc292nvl.1 uc292nvl.2 Protein modification; protein ubiquitination. Belongs to the cullin family. ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding uc292nvl.1 uc292nvl.2 
ENSMUST00000016696.13 Foxred2 ENSMUST00000016696.13 FAD-dependent oxidoreductase domain containing 2, transcript variant 2 (from RefSeq NM_001017983.3) D15Bwg0759e ENSMUST00000016696.1 ENSMUST00000016696.10 ENSMUST00000016696.11 ENSMUST00000016696.12 ENSMUST00000016696.2 ENSMUST00000016696.3 ENSMUST00000016696.4 ENSMUST00000016696.5 ENSMUST00000016696.6 ENSMUST00000016696.7 ENSMUST00000016696.8 ENSMUST00000016696.9 FXRD2_MOUSE Foxred2 NM_001017983 Q3TCC4 Q3USW5 Q5RJH0 uc007woj.1 uc007woj.2 uc007woj.3 Probable flavoprotein which may function in endoplasmic reticulum associated degradation (ERAD). May bind non-native proteins in the endoplasmic reticulum and target them to the ubiquitination machinery for subsequent degradation (By similarity). Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Interacts with SEL1L. May interact with OS9 and DNAJC10. Interacts with TXNDC16. Endoplasmic reticulum lumen N-glycosylated. Belongs to the FOXRED2 family. Sequence=BAE42033.1; Type=Frameshift; Evidence=; endoplasmic reticulum endoplasmic reticulum lumen oxidoreductase activity ER-associated ubiquitin-dependent protein catabolic process flavin adenine dinucleotide binding oxidation-reduction process uc007woj.1 uc007woj.2 uc007woj.3 
ENSMUST00000016771.13 Myh9 ENSMUST00000016771.13 myosin, heavy polypeptide 9, non-muscle (from RefSeq NM_022410.4) ENSMUST00000016771.1 ENSMUST00000016771.10 ENSMUST00000016771.11 ENSMUST00000016771.12 ENSMUST00000016771.2 ENSMUST00000016771.3 ENSMUST00000016771.4 ENSMUST00000016771.5 ENSMUST00000016771.6 ENSMUST00000016771.7 ENSMUST00000016771.8 ENSMUST00000016771.9 MYH9_MOUSE NM_022410 Q3UHT9 Q3UHU4 Q6KAN6 Q811I2 Q8VDD5 uc007woc.1 uc007woc.2 uc007woc.3 uc007woc.4 Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping (PubMed:19401332). Required for cortical actin clearance prior to oocyte exocytosis (PubMed:31118423). Promotes cell motility in conjunction with S100A4 (By similarity). During cell spreading, plays an important role in cytoskeleton reorganization, focal contact formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10 (By similarity). Myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Interacts with RASIP1 (PubMed:21396893). Interacts with DDR1 (PubMed:19401332). Interacts with PDLIM2 (By similarity). Interacts with SVIL (By similarity). Interacts with HTRA3 (By similarity). Interacts with Myo7a (PubMed:27331610). Interacts with CFAP95 (By similarity). Interacts with LIMCH1; independently of the integration of MYH9 into the myosin complex (By similarity). Interacts with RAB3A (By similarity). Interacts with ZBED4 (By similarity). Interacts with S100A4; this interaction increases cell motility. Q8VDD5; Q923J1: Trpm7; NbExp=4; IntAct=EBI-400906, EBI-8010314; Cytoplasm, cytoskeleton Cytoplasm, cell cortex Cytoplasmic vesicle, secretory vesicle, Cortical granule Note=Colocalizes with actin filaments at lamellipodia margins and at the leading edge of migrating cells (By similarity). In retinal pigment epithelial cells, predominantly localized to stress fiber-like structures with some localization to cytoplasmic puncta (By similarity). In neonatal mouse cochlea, weak levels of expression in both hair cells and supporting cells (at protein level). In the cochlea of six day old mice, expression is restricted to hair cell sterocilia (at protein level). The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. ISGylated. Ubiquitination. Reduced litter size and increased polyspermy in the perivitelline space following fertilization. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Sequence=BAE27768.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; microfilament motor activity nucleotide binding meiotic spindle organization cell morphogenesis involved in differentiation angiogenesis in utero embryonic development stress fiber ruffle establishment of T cell polarity immunological synapse plasma membrane repair uropod motor activity actin binding integrin binding protein binding calmodulin binding ATP binding nucleus cytoplasm actomyosin contractile ring cytosol cytoskeleton plasma membrane brush border cell-cell adherens junction cell cortex membrane protein ectodomain proteolysis phagocytosis, engulfment cell adhesion myoblast fusion COP9 signalosome regulation of cell shape protein transport actin cytoskeleton myosin complex myosin II complex ATPase activity protein domain specific binding actin filament-based movement platelet formation monocyte differentiation cortical cytoskeleton actin-dependent ATPase activity actomyosin structure organization cell leading edge actin cytoskeleton reorganization cleavage furrow lysosome localization cytokinetic process uropod organization macromolecular complex actomyosin protein homodimerization activity protein anchor ADP binding blood vessel endothelial cell migration regulated exocytosis actin filament binding establishment of meiotic spindle localization myosin II filament cell-cell adhesion negative regulation of actin filament severing positive regulation of protein processing in phagocytic vesicle regulation of plasma membrane repair spindle focal adhesion neuromuscular junction actin filament polymerization actin filament capping uc007woc.1 uc007woc.2 uc007woc.3 uc007woc.4 
ENSMUST00000016781.8 Ift27 ENSMUST00000016781.8 intraflagellar transport 27 (from RefSeq NM_025931.3) ENSMUST00000016781.1 ENSMUST00000016781.2 ENSMUST00000016781.3 ENSMUST00000016781.4 ENSMUST00000016781.5 ENSMUST00000016781.6 ENSMUST00000016781.7 IFT27_MOUSE NM_025931 Q9D0P8 Rabl4 Rayl uc007wor.1 uc007wor.2 uc007wor.3 Small GTPase-like component of the intraflagellar transport (IFT) complex B that promotes the exit of the BBSome complex from cilia via its interaction with ARL6 (PubMed:25446516). Not involved in entry of the BBSome complex into cilium. Prevents aggregation of GTP-free ARL6. Required for hedgehog signaling (PubMed:25446516). Forms a subcomplex within the IFT complex B with IFT25 (By similarity). Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation (PubMed:28964737). Plays a role in the early development of the kidney (PubMed:29626631). May be involved in the regulation of ureteric bud initiation (PubMed:29626631). Component of the IFT complex B, at least composed of IFT20, IFT22, IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88 (PubMed:19253336). Interacts with IFT25 (PubMed:28430876). Interacts with IFT70B (PubMed:23810713). Interacts with RABL2/RABL2A; binding is equal in the presence of GTP or GDP (PubMed:23055941). Interacts with IFT88 (PubMed:19253336). Interacts with ARL6; recognizes and binds with the GTP-free form of ARL6 (By similarity). Cell projection, cilium Cytoplasm Cell projection, cilium, flagellum Note=Localizes to the sperm flagellum. Expressed predominantly in the testis (at protein level) (PubMed:28964737). Co-localizes with RABL2/RABL2A in the midpiece of elongated spermatids within the testis (at protein level). Null mutants retain the ability to ciliate and survive through gestation. They die shortly after birth due to different phenotypes reminiscent of Shh signaling defects: polydactyly, lung isomerisms, and structural heart defects (PubMed:25446516). Conditional knockout in male germ cells results in infertility, abnormal sperm morphology, significantly reduced sperm count and sperm mobility (PubMed:28964737). Mutant mice with germline deletion of IFT27 die shortly after birth with structural defects in most organs including the kidneys, where duplicated collecting duct system and/or duplex kidney is often observed. Conditional deletion in the collecting duct results in smaller kidneys that develop only mild tubule dilation with age whereas conditional deletion from the peri-Wolffian duct stroma results in duplex kidneys (PubMed:29626631). Belongs to the small GTPase superfamily. Rab family. nucleotide binding kidney development GTPase activity protein binding GTP binding cytoplasm centrosome cilium intracellular protein transport signal transduction smoothened signaling pathway spermatogenesis protein transport membrane cell differentiation intraciliary transport particle B motile cilium Rab protein signal transduction sperm flagellum intraciliary transport cell projection inner ear receptor stereocilium organization cochlea development sperm midpiece sperm principal piece uc007wor.1 uc007wor.2 uc007wor.3 
ENSMUST00000016897.12 Ttll1 ENSMUST00000016897.12 tubulin tyrosine ligase-like 1, transcript variant 1 (from RefSeq NM_178869.4) ENSMUST00000016897.1 ENSMUST00000016897.10 ENSMUST00000016897.11 ENSMUST00000016897.2 ENSMUST00000016897.3 ENSMUST00000016897.4 ENSMUST00000016897.5 ENSMUST00000016897.6 ENSMUST00000016897.7 ENSMUST00000016897.8 ENSMUST00000016897.9 NM_178869 Q3TGC8 Q543S4 Q8C0A2 Q91V51 Q91ZG1 TTLL1_MOUSE Ttll1 uc007xbc.1 uc007xbc.2 uc007xbc.3 uc007xbc.4 Catalytic subunit of a polyglutamylase complex which modifies tubulin, generating side chains of glutamate on the gamma-carboxyl group of specific glutamate residues within the C-terminal tail of tubulin (PubMed:15890843). Probably involved in the side-chain elongation step of the polyglutamylation reaction rather than the initiation step (Probable). Modifies both alpha- and beta-tubulins with a preference for the alpha-tail (PubMed:15890843, PubMed:22170066). Unlike most polyglutamylases of the tubulin--tyrosine ligase family, only displays a catalytic activity when in complex with other proteins as it is most likely lacking domains important for autonomous activity (PubMed:15890843). Part of the neuronal tubulin polyglutamylase complex (PubMed:15890843). Mediates cilia and flagella polyglutamylation which is essential for their biogenesis and motility (PubMed:20498047, PubMed:20442420, PubMed:23897886). Involved in respiratory motile cilia function through the regulation of beating asymmetry (PubMed:20498047, PubMed:20442420). Essential for sperm flagella biogenesis, motility and male fertility (PubMed:20442420). Also mediates glutamylation of non- tubulin proteins (PubMed:29593216). Involved in KLF4 glutamylation which impedes its ubiquitination, thereby leading to somatic cell reprogramming, pluripotency maintenance and embryogenesis (PubMed:29593216). Reaction=(L-glutamyl)(n)-gamma-L-glutamyl-L-glutamyl-[protein] + ATP + L-glutamate = (L-glutamyl)(n+1)-gamma-L-glutamyl-L-glutamyl-[protein] + ADP + H(+) + phosphate; Xref=Rhea:RHEA:60148, Rhea:RHEA-COMP:15519, Rhea:RHEA-COMP:15675, ChEBI:CHEBI:15378, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:143623, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60149; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Part of the neuronal tubulin polyglutamylase complex which contains TPGS1, TPGS2, TTLL1, LRRC49 and NICN1. Interacts with PCM1, CSTPP1 and LRRC49 (By similarity). Cytoplasm, cytoskeleton Cytoplasm, cytoskeleton, cilium basal body Cytoplasm, cytoskeleton, cilium axoneme Cell projection, cilium, flagellum Highly expressed in brain, heart and kidney (PubMed:17499049, PubMed:20442420). Expressed in liver, lung, muscle, spleen, testis and trachea (PubMed:17499049, PubMed:20442420). In the brain, expressed in ependymal cilia, cortex, corpus callosum and striatum (PubMed:23897886). Expressed in blastomere (PubMed:29593216). Gln-144 is the main determinant for regioselectivity, which segregates between initiases and elongases in all tubulin--tyrosine ligase family. A glutamine residue at this position is found in elongases TTLL6, TTLL9, TTLL11, TTLL13, TTLL10 and favors glutamate- chain elongation, whereas an arginine residue is found in initiases TTLL2, TTLL4, TTLL5, TTLL3, TTLL8 and favors initiation. Knockout mice exhibit a loss of axonemal curvature and beating asymmetry in tracheal epithelial cilia, resulting in a reduction of cilia-generated fluid flow in trachea (PubMed:20498047). Knockout mice exhibit accumulations of exudates in the nasal passages and sinuses, rhinosinusitis and otitis media, and also emitted frequent coughing- or sneezing-like noises (PubMed:20498047, PubMed:20442420). Knockout male show abnormal sperm morphology and function characterized by shortened or absent flagella and immotility, and male infertility (PubMed:20498047, PubMed:20442420). Partial loss of tubulin glutamylation, probably due to redundancy with other polyglutamylases (PubMed:20498047). Belongs to the tubulin polyglutamylase family. nucleotide binding epithelial cilium movement protein binding ATP binding cellular_component extracellular region cytoplasm cytosol cytoskeleton microtubule cellular protein modification process sperm axoneme assembly ligase activity protein polyglutamylation axoneme assembly tubulin-glutamic acid ligase activity sperm flagellum movement involved in flagellated sperm motility uc007xbc.1 uc007xbc.2 uc007xbc.3 uc007xbc.4 
ENSMUST00000016901.5 Ttll12 ENSMUST00000016901.5 tubulin tyrosine ligase-like family, member 12 (from RefSeq NM_183017.2) ENSMUST00000016901.1 ENSMUST00000016901.2 ENSMUST00000016901.3 ENSMUST00000016901.4 NM_183017 Q3UDE2 Q7TPC3 TTL12_MOUSE Ttll12 uc007xbh.1 uc007xbh.2 uc007xbh.3 uc007xbh.4 Negatively regulates post-translational modifications of tubulin, including detyrosination of the C-terminus and polyglutamylation of glutamate residues. Also, indirectly promotes histone H4 trimethylation at 'Lys-20' (H4K20me3). Probably by controlling tubulin and/or histone H4 post-translational modifications, plays a role in mitosis and in maintaining chromosome number stability. During RNA virus-mediated infection, acts as a negative regulator of the RIG-I pathway by preventing MAVS binding to TBK1 and IKBKE. Interacts with MAVS; the interaction prevents MAVS binding to TBK1 and IKBKE. Interacts (via N-terminus) with TBK1 (via protein kinase domain). Interacts (via TTL domain) with IKBKE (via protein kinase domain). Interacts with tubulin alpha. Interacts with histone H3 and histone H4 (when trimethylated at 'Lys-20' (H4K20me3)). Interacts with CBX3. Cytoplasm Midbody Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle Nucleus Note=Predominantly localizes in the cytoplasm. Widely expressed with highest levels in brain, kidney, liver, lung, muscle and testis. Belongs to the tubulin--tyrosine ligase family. Although it belongs to the tubulin--tyrosine ligase family, the TTL domain lacks some of the ATP binding sites predicted to be essential for TTL activity (By similarity). Lacks tyrosine ligase activity in vitro (By similarity). Lacks glutamylation activity in vitro (PubMed:17499049). Although TTLL12 contains a potential SET-like domain in the N-terminus, it does not have lysine methyltransferase activity towards histone in vitro (By similarity). nucleotide binding ATP binding cytoplasm cellular protein modification process regulation of mitotic cell cycle tubulin binding negative regulation of type I interferon-mediated signaling pathway H4K20me3 modified histone binding uc007xbh.1 uc007xbh.2 uc007xbh.3 uc007xbh.4 
ENSMUST00000016902.5 Bik ENSMUST00000016902.5 BCL2-interacting killer (from RefSeq NM_007546.2) BIK_MOUSE Biklk Blk ENSMUST00000016902.1 ENSMUST00000016902.2 ENSMUST00000016902.3 ENSMUST00000016902.4 NM_007546 Nbk O70337 uc007xbd.1 uc007xbd.2 uc007xbd.3 Accelerates programmed cell death. Binding to the apoptosis repressors Bcl-X(L), BHRF1 or Bcl-2 suppresses this death-promoting activity. Interacts with RHBDL4/RHBDD1 (By similarity). Interacts with BCL2L10/BCL-B (By similarity). Endomembrane system ; Single-pass membrane protein Mitochondrion membrane ; Single-pass membrane protein Note=Around the nuclear envelope, and in cytoplasmic membranes. Expressed in testis, kidney, liver, lung and heart. Intact BH3 motif is required by BIK, BID, BAK, BAD and BAX for their pro-apoptotic activity and for their interaction with anti- apoptotic members of the Bcl-2 family. Proteolytically cleaved by RHBDL4/RHBDD1. RHBDL4/RHBDD1-induced cleavage is a necessary step prior its degradation by the proteosome- dependent mechanism (By similarity). protein binding mitochondrion mitochondrial envelope apoptotic process spermatogenesis male gonad development apoptotic mitochondrial changes endomembrane system membrane integral component of membrane mitochondrial membrane positive regulation of protein homooligomerization protein heterodimerization activity BH domain binding positive regulation of release of cytochrome c from mitochondria uc007xbd.1 uc007xbd.2 uc007xbd.3 
ENSMUST00000016951.8 Serpinb1b ENSMUST00000016951.8 serine (or cysteine) peptidase inhibitor, clade B, member 1b (from RefSeq NM_173052.2) ENSMUST00000016951.1 ENSMUST00000016951.2 ENSMUST00000016951.3 ENSMUST00000016951.4 ENSMUST00000016951.5 ENSMUST00000016951.6 ENSMUST00000016951.7 ILEUB_MOUSE NM_173052 Q8VHP7 uc007qab.1 uc007qab.2 uc007qab.3 uc007qab.4 Regulates the activity of the neutrophil proteases. Forms only a stable complex with CTSG/Cathepsin G (PubMed:12189154). During inflammation, limits the activity of inflammatory caspases CASP1 and CASP4 by suppressing their caspase-recruitment domain (CARD) oligomerization and enzymatic activation (PubMed:30692621). Monomer. Interacts (via C-terminus) with CASP1 and CASP4 (via CARD domain); these interactions regulate the activity of inflammatory caspases. Cytoplasm Expressed in brain with lower expression in lung, spleen and testis. Belongs to the serpin family. Ov-serpin subfamily. serine-type endopeptidase inhibitor activity protein binding extracellular space cytoplasm negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity regulation of protein catabolic process negative regulation of interleukin-1 beta secretion uc007qab.1 uc007qab.2 uc007qab.3 uc007qab.4 
ENSMUST00000016977.15 Mrps18c ENSMUST00000016977.15 mitochondrial ribosomal protein S18C (from RefSeq NM_026826.1) ENSMUST00000016977.1 ENSMUST00000016977.10 ENSMUST00000016977.11 ENSMUST00000016977.12 ENSMUST00000016977.13 ENSMUST00000016977.14 ENSMUST00000016977.2 ENSMUST00000016977.3 ENSMUST00000016977.4 ENSMUST00000016977.5 ENSMUST00000016977.6 ENSMUST00000016977.7 ENSMUST00000016977.8 ENSMUST00000016977.9 NM_026826 Q3UKN5 Q8R2L5 Q9D100 RT18C_MOUSE uc008yib.1 uc008yib.2 uc008yib.3 Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins. Mitochondrion Belongs to the bacterial ribosomal protein bS18 family. structural constituent of ribosome mitochondrion mitochondrial small ribosomal subunit ribosome translation small ribosomal subunit rRNA binding uc008yib.1 uc008yib.2 uc008yib.3 
ENSMUST00000017090.6 Kctd5 ENSMUST00000017090.6 potassium channel tetramerisation domain containing 5 (from RefSeq NM_027008.2) A0A0R4J000 A0A0R4J000_MOUSE ENSMUST00000017090.1 ENSMUST00000017090.2 ENSMUST00000017090.3 ENSMUST00000017090.4 ENSMUST00000017090.5 Kctd5 NM_027008 uc008auh.1 uc008auh.2 uc008auh.3 uc008auh.4 cytosol identical protein binding macromolecular complex binding protein homooligomerization uc008auh.1 uc008auh.2 uc008auh.3 uc008auh.4 
ENSMUST00000017142.3 Svs4 ENSMUST00000017142.3 seminal vesicle secretory protein 4 (from RefSeq NM_009300.3) A2A4C3 ENSMUST00000017142.1 ENSMUST00000017142.2 NM_009300 P18419 Q14BU4 Q9D257 SVS4_MOUSE Svp2 uc008nue.1 uc008nue.2 uc008nue.3 Secreted, extracellular space. Testis. By testosterone. Belongs to the SVP2/SVP5/SVP6 family. extracellular region extracellular space uc008nue.1 uc008nue.2 uc008nue.3 
ENSMUST00000017144.3 Svs6 ENSMUST00000017144.3 seminal vesicle secretory protein 6 (from RefSeq NM_013679.2) ENSMUST00000017144.1 ENSMUST00000017144.2 NM_013679 Q9D268 Q9D268_MOUSE Svs6 uc008nuh.1 uc008nuh.2 uc008nuh.3 Secreted, extracellular space Belongs to the SVP2/SVP5/SVP6 family. uc008nuh.1 uc008nuh.2 uc008nuh.3 
ENSMUST00000017147.8 Svs3a ENSMUST00000017147.8 seminal vesicle secretory protein 3A, transcript variant 1 (from RefSeq NM_021363.2) ENSMUST00000017147.1 ENSMUST00000017147.2 ENSMUST00000017147.3 ENSMUST00000017147.4 ENSMUST00000017147.5 ENSMUST00000017147.6 ENSMUST00000017147.7 F2Z467 F2Z472 NM_021363 Q8VI13 Q9JKD2 SVS3A_MOUSE Svs3 Svs3a uc008nuf.1 uc008nuf.2 uc008nuf.3 uc008nuf.4 uc008nuf.5 Component of the copulatory plug. Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=F2Z472-1; Sequence=Displayed; Name=2; IsoId=F2Z472-2; Sequence=VSP_059284; Highly expressed in the seminal vesicle where it is detected in luminal epithelium of the mucosa folds, and also in luminal fluid (at protein level). Not detected in other tissues tested. First detected at 3 weeks of age. Expression increases through to 6 weeks of age and remains high thereafter. Up-regulated in response to androgens. Glycosylated. Covalently cross-linked by transglutaminase, which is important for the formation of the gelatinous copulatory plug. Five repeats of Q- X-K-(S/T) in the central region of the protein serve as the transglutaminase substrate site(s). [Isoform 2]: May be due to competing acceptor splice site. molecular_function extracellular region mating plug formation sperm capacitation uc008nuf.1 uc008nuf.2 uc008nuf.3 uc008nuf.4 uc008nuf.5 
ENSMUST00000017148.8 Svs5 ENSMUST00000017148.8 seminal vesicle secretory protein 5 (from RefSeq NM_009301.2) ENSMUST00000017148.1 ENSMUST00000017148.2 ENSMUST00000017148.3 ENSMUST00000017148.4 ENSMUST00000017148.5 ENSMUST00000017148.6 ENSMUST00000017148.7 NM_009301 Q545K7 Q545K7_MOUSE Svs5 uc008nui.1 uc008nui.2 uc008nui.3 Secreted, extracellular space Belongs to the SVP2/SVP5/SVP6 family. uc008nui.1 uc008nui.2 uc008nui.3 
ENSMUST00000017151.2 Rbpjl ENSMUST00000017151.2 recombination signal binding protein for immunoglobulin kappa J region-like (from RefSeq NM_009036.1) ENSMUST00000017151.1 NM_009036 Q3V2I2 Q3V2I2_MOUSE Rbpjl Rbpsuhl uc008nup.1 uc008nup.2 Nucleus Belongs to the Su(H) family. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter positive regulation of transcription from RNA polymerase II promoter uc008nup.1 uc008nup.2 
ENSMUST00000017153.4 Sdc4 ENSMUST00000017153.4 syndecan 4 (from RefSeq NM_011521.2) ENSMUST00000017153.1 ENSMUST00000017153.2 ENSMUST00000017153.3 NM_011521 Q3U5S6 Q3U5S6_MOUSE Sdc4 uc008nuq.1 uc008nuq.2 uc008nuq.3 Cell surface proteoglycan. Membrane ingle-pass type I membrane protein Belongs to the syndecan proteoglycan family. ureteric bud development fibronectin binding protein kinase C binding focal adhesion cell surface membrane integral component of membrane negative regulation of T cell proliferation identical protein binding costamere membrane raft positive regulation of protein kinase activity positive regulation of stress fiber assembly positive regulation of focal adhesion assembly thrombospondin receptor activity positive regulation of exosomal secretion positive regulation of extracellular exosome assembly uc008nuq.1 uc008nuq.2 uc008nuq.3 
ENSMUST00000017208.5 Prl5a1 ENSMUST00000017208.5 prolactin family 5, subfamily a, member 1 (from RefSeq NM_023746.4) D13Wsu14e ENSMUST00000017208.1 ENSMUST00000017208.2 ENSMUST00000017208.3 ENSMUST00000017208.4 NM_023746 PR5A1_MOUSE Prlpl Q80X20 Q9JII2 uc007pyh.1 uc007pyh.2 uc007pyh.3 Secreted Belongs to the somatotropin/prolactin family. prolactin receptor binding hormone activity extracellular region extracellular space signal transduction female pregnancy positive regulation of cell proliferation mammary gland development response to nutrient levels positive regulation of JAK-STAT cascade positive regulation of lactation uc007pyh.1 uc007pyh.2 uc007pyh.3 
ENSMUST00000017255.4 Krt24 ENSMUST00000017255.4 keratin 24 (from RefSeq NM_029393.2) A1L316 A1L317 ENSMUST00000017255.1 ENSMUST00000017255.2 ENSMUST00000017255.3 K1C24_MOUSE Ka24 NM_029393 Q8BKC6 uc007lim.1 uc007lim.2 uc007lim.3 Heterotetramer of two type I and two type II keratins. There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively). Belongs to the intermediate filament family. structural molecule activity intermediate filament biological_process uc007lim.1 uc007lim.2 uc007lim.3 
ENSMUST00000017270.8 Krt42 ENSMUST00000017270.8 keratin 42 (from RefSeq NM_212483.3) A7MAW4 ENSMUST00000017270.1 ENSMUST00000017270.2 ENSMUST00000017270.3 ENSMUST00000017270.4 ENSMUST00000017270.5 ENSMUST00000017270.6 ENSMUST00000017270.7 K1C42_MOUSE Ka22 Krt42 NM_212483 Q2M1G8 Q6IFX2 Q6SEK1 uc007lku.1 uc007lku.2 uc007lku.3 Heterodimer of a type I and a type II keratin. Colocalizes with KRT8/KRT18 filament network. Cytoplasm Expressed in nail matrix and nail bed epithelium (at protein level). Also expressed in tongue and digits with weak expression in vibrissae and in both filiform and fungiform papillae of oral mucosa. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). Belongs to the intermediate filament family. structural molecule activity cytoplasm intermediate filament biological_process uc007lku.1 uc007lku.2 uc007lku.3 
ENSMUST00000017276.14 Cyth1 ENSMUST00000017276.14 cytohesin 1, transcript variant 1 (from RefSeq NM_011180.4) CYH1_MOUSE ENSMUST00000017276.1 ENSMUST00000017276.10 ENSMUST00000017276.11 ENSMUST00000017276.12 ENSMUST00000017276.13 ENSMUST00000017276.2 ENSMUST00000017276.3 ENSMUST00000017276.4 ENSMUST00000017276.5 ENSMUST00000017276.6 ENSMUST00000017276.7 ENSMUST00000017276.8 ENSMUST00000017276.9 NM_011180 O88817 Pscd1 Q76MU4 Q9QX11 uc011yil.1 uc011yil.2 uc011yil.3 Promotes guanine-nucleotide exchange on ARF1, ARF5 and ARF6 (PubMed:18042453, PubMed:20080746). Promotes the activation of ARF factors through replacement of GDP with GTP (PubMed:18042453). Plays an important role in membrane trafficking, during junctional remodeling and epithelial polarization, through regulation of ARF6 activity (PubMed:20080746, PubMed:29420262). Interacts with TRIM23 and CYTIP (By similarity). Interacts (via coiled-coil domain) with FRMD4A (via coiled-coil domain)(PubMed:20080746). Interacts with FRMD4B (PubMed:20080746). Found in a complex with PARD3, CYTH1 and FRMD4A (PubMed:20080746). Interacts (via N-terminal domain) with INAVA (via N-terminal domain) (By similarity). Cell membrane eripheral membrane protein Cytoplasm, cytosol Cell junction, tight junction Cell junction, adherens junction Note=Colocalized with TJP1 during epithelial polarization (PubMed:20080746). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9QX11-1; Sequence=Displayed; Name=2; IsoId=Q9QX11-2; Sequence=VSP_006035; Expressed in colon and small intestine (at protein level). Binds via its PH domain to the inositol head group of phosphatidylinositol 3,4,5-trisphosphate. Autoinhibited by its C-terminal basic region. Ubiquitinated by SCF(FBXW11) E3 ubiquitin-protein ligase complex. Ubiquitination induces proteasomal degradation. guanyl-nucleotide exchange factor activity ARF guanyl-nucleotide exchange factor activity protein binding cytoplasm cytosol plasma membrane adherens junction bicellular tight junction lipid binding membrane cell junction extrinsic component of cytoplasmic side of plasma membrane neuromuscular junction regulation of ARF protein signal transduction establishment of epithelial cell polarity extrinsic component of presynaptic membrane regulation of synaptic vesicle exocytosis uc011yil.1 uc011yil.2 uc011yil.3 
ENSMUST00000017288.9 Rnd3 ENSMUST00000017288.9 Rho family GTPase 3 (from RefSeq NM_028810.2) Arhe ENSMUST00000017288.1 ENSMUST00000017288.2 ENSMUST00000017288.3 ENSMUST00000017288.4 ENSMUST00000017288.5 ENSMUST00000017288.6 ENSMUST00000017288.7 ENSMUST00000017288.8 NM_028810 P52199 P61588 Q6ZWS2 RND3_MOUSE Rhoe uc008jqf.1 uc008jqf.2 uc008jqf.3 Binds GTP but lacks intrinsic GTPase activity and is resistant to Rho-specific GTPase-activating proteins. Interacts with UBXD5 (By similarity). Binds ROCK1. P61588; P70335: Rock1; NbExp=7; IntAct=EBI-6930266, EBI-989293; P61588; Q13017: ARHGAP5; Xeno; NbExp=2; IntAct=EBI-6930266, EBI-7237884; P61588; P31946: YWHAB; Xeno; NbExp=5; IntAct=EBI-6930266, EBI-359815; P61588; P62258: YWHAE; Xeno; NbExp=2; IntAct=EBI-6930266, EBI-356498; P61588; P61981: YWHAG; Xeno; NbExp=2; IntAct=EBI-6930266, EBI-359832; P61588; Q04917: YWHAH; Xeno; NbExp=2; IntAct=EBI-6930266, EBI-306940; P61588; P27348: YWHAQ; Xeno; NbExp=2; IntAct=EBI-6930266, EBI-359854; P61588; P63104: YWHAZ; Xeno; NbExp=3; IntAct=EBI-6930266, EBI-347088; Golgi apparatus membrane ; Peripheral membrane protein Ubiquitous. Belongs to the small GTPase superfamily. Rho family. Golgi membrane nucleotide binding GTPase activity protein binding GTP binding cytoplasm Golgi apparatus cell cortex actin filament organization small GTPase mediated signal transduction Rho protein signal transduction regulation of cell shape membrane protein kinase binding regulation of cell migration establishment or maintenance of actin cytoskeleton polarity cell division site regulation of actin cytoskeleton organization intracellular membrane-bounded organelle actin filament bundle assembly plasma membrane uc008jqf.1 uc008jqf.2 uc008jqf.3 
ENSMUST00000017290.11 Brca1 ENSMUST00000017290.11 breast cancer 1, early onset (from RefSeq NM_009764.3) A2A4Q4 BRCA1_MOUSE ENSMUST00000017290.1 ENSMUST00000017290.10 ENSMUST00000017290.2 ENSMUST00000017290.3 ENSMUST00000017290.4 ENSMUST00000017290.5 ENSMUST00000017290.6 ENSMUST00000017290.7 ENSMUST00000017290.8 ENSMUST00000017290.9 NM_009764 P48754 Q60957 Q60983 uc007lpd.1 uc007lpd.2 uc007lpd.3 uc007lpd.4 E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage. It is unclear whether it also mediates the formation of other types of polyubiquitin chains. The BRCA1-BARD1 heterodimer coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Regulates centrosomal microtubule nucleation. Required for appropriate cell cycle arrests after ionizing irradiation in both the S-phase and the G2 phase of the cell cycle. Required for FANCD2 targeting to sites of DNA damage. Inhibits lipid synthesis by binding to inactive phosphorylated ACACA and preventing its dephosphorylation. Contributes to homologous recombination repair (HRR) via its direct interaction with PALB2, fine- tunes recombinational repair partly through its modulatory role in the PALB2-dependent loading of BRCA2-RAD51 repair machinery at DNA breaks. Component of the BRCA1-RBBP8 complex which regulates CHEK1 activation and controls cell cycle G2/M checkpoints on DNA damage via BRCA1- mediated ubiquitination of RBBP8. Acts as a transcriptional activator. Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Protein modification; protein ubiquitination. Heterodimer with BARD1. Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the MRE11-RAD50-NBN protein (MRN) complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1. Interacts (via the BRCT domains) with ABRAXAS1 (phosphorylated form); this is important for recruitment to sites of DNA damage. Can form a heterotetramer with two molecules of ABRAXAS1 (phosphorylated form). Component of the BRCA1-RBBP8 complex. Interacts (via the BRCT domains) with RBBP8 ('Ser-327' phosphorylated form); the interaction ubiquitinates RBBP8, regulates CHEK1 activation, and involves RBBP8 in BRCA1-dependent G2/M checkpoint control on DNA damage. Associates with RNA polymerase II holoenzyme. Interacts with SMC1A, NELFB, DCLRE1C, CLSPN. CHEK1, CHEK2, BAP1, BRCC3, UBXN1 and PCLAF. Interacts (via BRCT domains) with BRIP1 (phosphorylated form). Interacts with FANCD2 (ubiquitinated form). Interacts with H2AX (phosphorylated on 'Ser-140'). Interacts (via the BRCT domains) with ACACA (phosphorylated form); the interaction prevents dephosphorylation of ACACA. Part of a BRCA complex containing BRCA1, BRCA2 and PALB2. Interacts directly with PALB2; the interaction is essential for its function in HRR. Interacts directly with BRCA2; the interaction occurs only in the presence of PALB2 which serves as the bridging protein. Interacts (via the BRCT domains) with LMO4; the interaction represses the transcriptional activity of BRCA1. Interacts (via the BRCT domains) with CCAR2 (via N-terminus); the interaction represses the transcriptional activator activity of BRCA1 (By similarity). Interacts with EXD2 (By similarity). Interacts (via C-terminus) with DHX9; this interaction is direct and links BRCA1 to the RNA polymerase II holoenzyme (By similarity). Interacts with DNA helicase ZGRF1; the interaction is increased following DNA damage induction (By similarity). Nucleus Chromosome Cytoplasm Note=Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex. Translocated to the cytoplasm during UV-induced apoptosis. In the embryo, expressed in otic vesicles at day 9.5. At day 10.5, this expression decreases and high levels are found in the neuroectoderm. At days 11-12.5, high levels in differentiating keratinocytes and whisker pad primordia. At days 14-17, expression also observed in kidney epithelial cells. In the adult, highest levels found in spleen, thymus, lymph nodes, epithelial organs, and alveolar and ductal epithelial cells of the mammary gland. Very low levels in brain, kidney, and skin. No expression in heart, liver or lung. In the mammary gland, expression increases dramatically during pregnancy. Levels fall during lactation and increase again during post-lactational regression of the mammary gland. The BRCT domains recognize and bind phosphorylated pSXXF motif on proteins. The interaction with the phosphorylated pSXXF motif of ABRAXAS1, recruits BRCA1 at DNA damage sites. The RING-type zinc finger domain interacts with BAP1. Phosphorylated in response to IR, UV, and various stimuli that cause checkpoint activation, probably by ATM or ATR. Phosphorylation at Ser-971 by CHEK2 regulates mitotic spindle assembly. Phosphorylation by AURKA regulates centrosomal microtubule nucleation. Autoubiquitinated, undergoes 'Lys-6'-linked polyubiquitination. 'Lys-6'-linked polyubiquitination does not promote degradation. double-strand break repair via homologous recombination condensed chromosome condensed nuclear chromosome lateral element DNA binding chromatin binding damaged DNA binding transcription coactivator activity RNA binding ubiquitin-protein transferase activity nucleus nucleoplasm chromosome cytoplasm mitochondrial matrix centrosome plasma membrane DNA repair postreplication repair double-strand break repair DNA recombination regulation of gene expression by genetic imprinting regulation of transcription from RNA polymerase II promoter lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process cellular response to DNA damage stimulus cell cycle chromosome segregation centrosome cycle zinc ion binding intrinsic apoptotic signaling pathway in response to DNA damage dosage compensation by inactivation of X chromosome response to ionizing radiation positive regulation of vascular endothelial growth factor production positive regulation of gene expression protein ubiquitination transferase activity enzyme binding positive regulation of protein ubiquitination BRCA1-BARD1 complex ubiquitin protein ligase binding macromolecular complex negative regulation of intracellular estrogen receptor signaling pathway positive regulation of histone acetylation negative regulation of histone acetylation identical protein binding chordate embryonic development response to estrogen regulation of DNA methylation transcription regulatory region DNA binding mitotic G2/M transition checkpoint negative regulation of fatty acid biosynthetic process positive regulation of DNA repair positive regulation of angiogenesis negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding centrosome duplication positive regulation of histone H3-K4 methylation negative regulation of histone H3-K4 methylation negative regulation of histone H3-K9 methylation positive regulation of histone H3-K9 methylation protein autoubiquitination RNA polymerase binding positive regulation of histone H4-K20 methylation BRCA1-A complex positive regulation of cell cycle arrest cellular response to tumor necrosis factor cellular response to indole-3-methanol signal transduction involved in G2 DNA damage checkpoint protein K6-linked ubiquitination negative regulation of extrinsic apoptotic signaling pathway via death domain receptors ribonucleoprotein complex negative regulation of reactive oxygen species metabolic process positive regulation of histone H3-K9 acetylation positive regulation of histone H4-K16 acetylation uc007lpd.1 uc007lpd.2 uc007lpd.3 uc007lpd.4 
ENSMUST00000017309.2 Gast ENSMUST00000017309.2 gastrin (from RefSeq NM_010257.4) ENSMUST00000017309.1 GAST_MOUSE Gas NM_010257 P48757 P70334 Q64295 Q9CPR2 uc007lkw.1 uc007lkw.2 uc007lkw.3 uc007lkw.4 uc007lkw.5 This gene encodes the peptide hormone gastrin, which stimulates gastric acid secretion, proliferation, cell migration and angiogenesis, as well as inhibits apoptosis. The encoded preproprotein undergoes proteolytic processing to generate multiple gastrin peptides differing in size. Mice lacking the encoded protein exhibit a decrease in the number of parietal cells, achlorohydria and a decrease in the colonic proliferation. [provided by RefSeq, Nov 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X94758.1, AK008062.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849376, SAMN00849377 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Gastrin stimulates the stomach mucosa to produce and secrete hydrochloric acid and the pancreas to secrete its digestive enzymes. It also stimulates smooth muscle contraction and increases blood circulation and water secretion in the stomach and intestine. Secreted. Abundantly expressed in the stomach and duodenum. Low levels in brain, ovary and pancreas. Sulfation enhances proteolytic processing, and blocks peptide degradation. Levels of sulfation differ between proteolytically-cleaved gastrins and between tissues (By similarity). Belongs to the gastrin/cholecystokinin family. hormone activity protein binding extracellular region extracellular space signal transduction G-protein coupled receptor signaling pathway response to food uc007lkw.1 uc007lkw.2 uc007lkw.3 uc007lkw.4 uc007lkw.5 
ENSMUST00000017332.4 Coa3 ENSMUST00000017332.4 cytochrome C oxidase assembly factor 3 (from RefSeq NM_026618.2) A2A4J6 COA3_MOUSE Ccdc56 ENSMUST00000017332.1 ENSMUST00000017332.2 ENSMUST00000017332.3 NM_026618 Q9D2R6 uc007log.1 uc007log.2 uc007log.3 Core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly. MITRAC complexes regulate both translation of mitochondrial encoded components and assembly of nuclear-encoded components imported in mitochondrion. Required for efficient translation of MT-CO1 and mitochondrial respiratory chain complex IV assembly. Along with COX14, core component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex. Interacts with MT-CO1/COX1, SMIM20, SURF1 and TIMM21. Mitochondrion inner membrane ; Single-pass membrane protein Belongs to the COA3 family. molecular_function mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex IV membrane integral component of membrane integral component of mitochondrial inner membrane mitochondrial respiratory chain complex IV assembly positive regulation of mitochondrial translation uc007log.1 uc007log.2 uc007log.3 
ENSMUST00000017339.12 Zpbp2 ENSMUST00000017339.12 zona pellucida binding protein 2, transcript variant 1 (from RefSeq NM_027061.2) A2A4Y0 ENSMUST00000017339.1 ENSMUST00000017339.10 ENSMUST00000017339.11 ENSMUST00000017339.2 ENSMUST00000017339.3 ENSMUST00000017339.4 ENSMUST00000017339.5 ENSMUST00000017339.6 ENSMUST00000017339.7 ENSMUST00000017339.8 ENSMUST00000017339.9 NM_027061 Q6X785 Q6X786 Q9DA91 ZPBP2_MOUSE uc007lgp.1 uc007lgp.2 uc007lgp.3 uc007lgp.4 Is implicated in sperm-oocyte interaction during fertilization. Cytoplasmic vesicle, secretory vesicle, acrosome Secreted Note=Released after the acrosomal reaction. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6X786-1; Sequence=Displayed; Name=2; IsoId=Q6X786-2; Sequence=VSP_011685; Name=3; IsoId=Q6X786-3; Sequence=VSP_011684; Expressed specifically in male germ cells. Expressed from the mid-pachytene spermatocyte stage to the early elongating spermatid stage. N-glycosylated. Male mice are subfertile with sperm showing reduced ability to penetrate zona pellucida and displaying subtle morphological deformation, including shortened apical hook, smaller apical angle and bulges in acrosome region. Belongs to the zona pellucida-binding protein Sp38 family. acrosomal vesicle acrosome assembly zona pellucida receptor complex molecular_function extracellular region binding of sperm to zona pellucida cytoplasmic vesicle cell body uc007lgp.1 uc007lgp.2 uc007lgp.3 uc007lgp.4 
ENSMUST00000017348.3 Gsdma ENSMUST00000017348.3 gasdermin A (from RefSeq NM_021347.4) A3KFN3 ENSMUST00000017348.1 ENSMUST00000017348.2 GSDMA_MOUSE Gsdm Gsdm1 Gsdma1 NM_021347 Q9EST1 uc007lgv.1 uc007lgv.2 [Gasdermin-A]: This form constitutes the precursor of the pore-forming protein and acts as a sensor of bacterial infection: upon infection, specifically cleaved by bacterial effector protein SpeB in epithelial cells, releasing the N-terminal moiety (Gasdermin-A, N- terminal) that binds to membranes and forms pores, triggering pyroptosis. [Gasdermin-A, N-terminal]: Pore-forming protein that causes membrane permeabilization and pyroptosis (PubMed:35110732). Released upon cleavage by bacterial effector protein SpeB, and binds to membrane inner leaflet lipids (PubMed:35110732). Homooligomerizes within the membrane and forms pores of 10-15 nanometers (nm) of inner diameter, triggering pyroptosis (By similarity). Pyroptosis triggers the elimination of the infected skin cell, depriving the pathogen of its protective niche, while inducing an inflammatory response (PubMed:35110732, PubMed:35545676). This ultimately prevents bacterial penetration of the epithelial barrier and a subsequent systemic dissemination of the pathogen (PubMed:35110732, PubMed:35545676). Binds to cardiolipin and other acidic phospholipids, such as phosphatidylserine, which mediate its targeting to the inner leaflet membrane (By similarity). [Gasdermin-A]: The full-length protein before cleavage is inactive: intramolecular interactions between N- and C- terminal domains mediate autoinhibition in the absence of activation signal (By similarity). The intrinsic pyroptosis-inducing activity is carried by the released N-terminal moiety (Gasdermin-A, N-terminal) following cleavage by bacterial effector protein SpeB (PubMed:35110732). [Gasdermin-A, N-terminal]: Homooligomer; homooligomeric ring- shaped pore complex containing 18-36 subunits when inserted in the membrane. [Gasdermin-A]: Cytoplasm, perinuclear region Cytoplasm, cytosol [Gasdermin-A, N-terminal]: Cell membrane ; Multi-pass membrane protein Expressed predominantly in the gastrointestinal (GI) tract and in the skin at a lower level. In the GI tract, the expression is highly restricted to the esophagus and forestomach. Expression is first detected at 12.5 dpc. Intramolecular interactions between N- and C-terminal domains are important for autoinhibition in the absence of activation signal. The intrinsic pyroptosis-inducing activity is carried by the N-terminal domain. Cleavage by bacterial SpeB relieves autoinhibition by releasing the N-terminal moiety (Gasdermin-A, N-terminal) that initiates pyroptosis. Mice are highly susceptible to subcutaneous group A Streptococcus (GAS) infection in an animal model (PubMed:35110732). Mice lacking Gsdma, Gsdma2 and Gsdma3 are highly susceptible to subcutaneous group A Streptococcus (GAS) infection in an animal model (PubMed:35545676). Belongs to the gasdermin family. phosphatidylserine binding phosphatidylinositol-4,5-bisphosphate binding cytoplasm cytosol plasma membrane apoptotic process programmed cell death membrane perinuclear region of cytoplasm pyroptosis phosphatidylinositol-4-phosphate binding uc007lgv.1 uc007lgv.2 
ENSMUST00000017354.13 Med24 ENSMUST00000017354.13 mediator complex subunit 24, transcript variant 3 (from RefSeq NM_011869.3) A3KFP0 D11Ertd307e ENSMUST00000017354.1 ENSMUST00000017354.10 ENSMUST00000017354.11 ENSMUST00000017354.12 ENSMUST00000017354.2 ENSMUST00000017354.3 ENSMUST00000017354.4 ENSMUST00000017354.5 ENSMUST00000017354.6 ENSMUST00000017354.7 ENSMUST00000017354.8 ENSMUST00000017354.9 MED24_MOUSE NM_011869 Q8R004 Q99K74 Q9D277 Q9WVF1 Thrap4 Trap100 uc007lha.1 uc007lha.2 This gene encodes a component of the mediator complex (also known as TRAP, SMCC, DRIP, or ARC), a transcriptional coactivator complex thought to be required for the expression of almost all genes. The mediator complex is recruited by transcriptional activators or nuclear receptors to induce gene expression, possibly by interacting with RNA polymerase II and promoting the formation of a transcriptional pre-initiation complex. The product of this gene may form a submodule of the mediator complex that magnifies the effects of activators on the general transcription machinery. Alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2008]. Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By similarity). Required for basal and activator-dependent transcription. Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with AR (By similarity). Interacts with MED1 and MED10. Nucleus Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q99K74-1; Sequence=Displayed; Name=2; IsoId=Q99K74-2; Sequence=VSP_028355, VSP_028356; Name=3; IsoId=Q99K74-3; Sequence=VSP_028357, VSP_028358; Expressed in the adrenal gland, brain, epididymis, heart, kidney, liver, ovary, pancreas, prostate, skeletal muscle, small intestine, spleen, stomach, testis and thymus. Expressed throughout development; expression levels drop immediately after birth. Strongly expressed throughout the primitive nervous system, the hepatic primoridium and the earliest limb buds. Belongs to the Mediator complex subunit 24 family. ubiquitin ligase complex transcription cofactor activity transcription coactivator activity histone acetyltransferase activity nucleus nucleoplasm transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter protein ubiquitination histone acetylation mediator complex stem cell population maintenance positive regulation of transcription, DNA-templated thyroid hormone receptor binding protein heterooligomerization ubiquitin protein ligase activity uc007lha.1 uc007lha.2 
ENSMUST00000017365.15 Psmd3 ENSMUST00000017365.15 proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (from RefSeq NM_009439.1) ENSMUST00000017365.1 ENSMUST00000017365.10 ENSMUST00000017365.11 ENSMUST00000017365.12 ENSMUST00000017365.13 ENSMUST00000017365.14 ENSMUST00000017365.2 ENSMUST00000017365.3 ENSMUST00000017365.4 ENSMUST00000017365.5 ENSMUST00000017365.6 ENSMUST00000017365.7 ENSMUST00000017365.8 ENSMUST00000017365.9 NM_009439 P14685 P91a PSMD3_MOUSE Q3TP95 Q99LL7 Tstap91a uc007lgx.1 uc007lgx.2 uc007lgx.3 Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Component of the 19S proteasome regulatory particle complex (PubMed:16857966). The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP) (By similarity). The regulatory particle is made of a lid composed of 9 subunits including PSMD3, a base containing 6 ATPases and few additional components (By similarity). Interacts with UBQLN1 (via ubiquitin-like domain) (By similarity). Interacts with ERCC6 (By similarity). Belongs to the proteasome subunit S3 family. proteasome complex protein binding proteasome regulatory particle ubiquitin-dependent protein catabolic process proteasome regulatory particle, lid subcomplex proteasome accessory complex enzyme regulator activity regulation of protein catabolic process regulation of catalytic activity uc007lgx.1 uc007lgx.2 uc007lgx.3 
ENSMUST00000017384.14 Casc3 ENSMUST00000017384.14 Required for pre-mRNA splicing as component of the spliceosome. Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Stimulates the ATPase and RNA-helicase activities of EIF4A3. Plays a role in the stress response by participating in cytoplasmic stress granules assembly and by favoring cell recovery following stress. Component of the dendritic ribonucleoprotein particles (RNPs) in hippocampal neurons. May play a role in mRNA transport. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon- exon junctions. Binds poly(G) and poly(U) RNA homomer. (from UniProt Q8K3W3) A3KFP7 AJ292072 CASC3_MOUSE ENSMUST00000017384.1 ENSMUST00000017384.10 ENSMUST00000017384.11 ENSMUST00000017384.12 ENSMUST00000017384.13 ENSMUST00000017384.2 ENSMUST00000017384.3 ENSMUST00000017384.4 ENSMUST00000017384.5 ENSMUST00000017384.6 ENSMUST00000017384.7 ENSMUST00000017384.8 ENSMUST00000017384.9 Mln51 Q3UT99 Q8K219 Q8K3W3 Q99NF0 uc011yeh.1 uc011yeh.2 uc011yeh.3 Required for pre-mRNA splicing as component of the spliceosome. Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Stimulates the ATPase and RNA-helicase activities of EIF4A3. Plays a role in the stress response by participating in cytoplasmic stress granules assembly and by favoring cell recovery following stress. Component of the dendritic ribonucleoprotein particles (RNPs) in hippocampal neurons. May play a role in mRNA transport. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon- exon junctions. Binds poly(G) and poly(U) RNA homomer. Identified in the spliceosome C complex. Component of the mRNA splicing-dependent exon junction complex (EJC), which contains at least CASC3, EIF4A3, MAGOH, NXF1 and RBM8A/Y14. Identified in a complex composed of the EJC core, UPF3B and UPF2. The EJC core can also interact with UPF3A (in vitro) (By similarity). Forms homooligomers (By similarity). Interacts with STAU in an RNA-dependent manner (PubMed:12843282). Interacts with DHX34; the interaction is RNA- independent (By similarity). Cytoplasm Cytoplasm, perinuclear region Nucleus Nucleus speckle Cytoplasm, Stress granule Cytoplasm, Cytoplasmic ribonucleoprotein granule Cell projection, dendrite Note=Shuttles between the nucleus and the cytoplasm in a XPO1/CRM1-dependent manner (PubMed:12843282). Transported to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA. In nuclear speckles, colocalizes with MAGOH. Under stress conditions, colocalizes with FMR1 and TIA1, but not MAGOH and RBM8A EJC core factors, in cytoplasmic stress granules (By similarity). In the dendrites of hippocampal neurons, localizes to dendritic ribonucleoprotein granules (Probable). High levels in heart, brain, including hippocampus and cerebellum, liver, kidney and testis; lower levels in muscle, lung and spleen. The coiled coil domain may be involved in oligomerization. ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination (By similarity). Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation. Belongs to the CASC3 family. Sequence=AAH60672.1; Type=Erroneous initiation; Evidence=; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay mRNA splicing, via spliceosome RNA binding protein binding nucleus spliceosomal complex cytoplasm mRNA processing regulation of translation intracellular mRNA localization RNA splicing cytoplasmic stress granule nuclear speck enzyme binding dendrite ubiquitin protein ligase binding nuclear membrane exon-exon junction complex cytoplasmic ribonucleoprotein granule identical protein binding cell projection perinuclear region of cytoplasm mRNA transport U2-type catalytic step 1 spliceosome ribonucleoprotein complex uc011yeh.1 uc011yeh.2 uc011yeh.3 
ENSMUST00000017408.14 Exosc10 ENSMUST00000017408.14 exosome component 10, transcript variant 1 (from RefSeq NM_016699.4) B1ARY9 ENSMUST00000017408.1 ENSMUST00000017408.10 ENSMUST00000017408.11 ENSMUST00000017408.12 ENSMUST00000017408.13 ENSMUST00000017408.2 ENSMUST00000017408.3 ENSMUST00000017408.4 ENSMUST00000017408.5 ENSMUST00000017408.6 ENSMUST00000017408.7 ENSMUST00000017408.8 ENSMUST00000017408.9 EXOSX_MOUSE NM_016699 P56960 Pmscl2 Q9QYS8 Q9R0B1 uc008vut.1 uc008vut.2 uc008vut.3 uc008vut.4 uc008vut.5 Catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. EXOSC10 is required for nucleolar localization of C1D and probably mediates the association of MTREX, C1D and MPHOSPH6 with the RNA exosome involved in the maturation of 5.8S rRNA (By similarity). Plays a role in the recruitment of replication protein A complex (RPA) and RAD51 to DNA double-strand breaks caused by irradiation, contributing to DNA repair by homologous recombination (By similarity). Regulates levels of damage-induced RNAs in order to prevent DNA-RNA hybrid formation at DNA double-strand breaks and limit DNA end resection after damage (By similarity). Plays a role in oocyte development, maturation and survival (PubMed:36923944, PubMed:32313933). Required for normal testis development and mitotic division of spermatogonia (PubMed:29118343). Plays a role in proper embryo development (PubMed:36923944, PubMed:34965385, PubMed:32313933). Required for global protein translation (By similarity). Required for cell proliferation (By similarity). Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Component of the RNA exosome complex. The catalytically inactive RNA exosome core (Exo-9) complex is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms. Interacts with C1D and MPHOSPH6 (By similarity). Interacts with ALYREF/THOC4 (By similarity). Interacts with MTREX; the interaction mediates the association of MTREX with nuclear RNA exosomes (By similarity). Interacts with DHX36; this interaction occurs in a RNase-insensitive manner (By similarity). Interacts with NRDE2 (By similarity). Interacts (via C-terminus) with USP36 (via C-terminus); the interaction is facilitated by the association with RNA and promotes sumoylation of EXOSC10 (By similarity). Cytoplasm cleus cleus, nucleolus Nucleus, nucleoplasm Note=Strongly enriched in the nucleolus and a small amount has been found in cytoplasm supporting the existence of a nucleolar RNA exosome complex form (By similarity). In oocytes, the protein is diffusely distributed in the cytoplasm, in zygotes it is found in both the cytoplasm and pronuclei and from the two-cell stage onward the protein accumulates in the nucleus, especially at the nucleolus precursor body periphery (PubMed:34965385). In metaphase blastomeres that lack structured nuclei, the protein localizes diffusely in the cytoplasm (PubMed:34965385). In spermatocytes, the protein accumulates in the nucleolus during zygotene, late pachytene and diplotene sub-stages and in the cytoplasm during metaphase I (PubMed:29118343). Expressed in ovary (at protein level) (PubMed:36923944). Expressed in testis (at protein level) (PubMed:29118343). Expressed in lung (at protein level) (PubMed:26857222). Expressed in oocytes and during all the stages of early embryogenesis (at protein level). Down-regulated by mild hypothermia (at protein level). Sumoylated by USP36; sumoylation does not significantly affect EXOSC10 nucleolar localization and association with core exosome and USP36, but regulates the nucleolar RNA exosome activity in rRNA processing by promoting binding of EXOSC10 to pre-rRNAs. Effects of sumoylation on EXOSC10 levels vary between different studies. Sumoylation of EXOSC10 is required for the modulation of EXOSC10 effects on cellular protein translation and cell proliferation. Sumoylation is promoted by mild hypothermia. Prenatal lethality (PubMed:34965385, PubMed:32313933, PubMed:29118343). Developmental arrest at the two-cell to eight-cell embryo/morula transition stages (PubMed:34965385, PubMed:32313933). Oocyte-specific knockdown does not affect the onset of puberty but results in the loss of sexual receptivity and cyclicity and leads to subfertility/infertility in female mice (PubMed:36923944, PubMed:32313933). Rapid depletion of oocytes in ovaries and disorganization of the ovarian tissue (PubMed:36923944). Dysregulation of the pathways involved in meiotic cell cycle progression, oocyte maturation, ribosome biogenesis, DNA replication and repair, mitochondria activity, transcriptional control, RNA metabolism, endomembrane and nucleocytoplasmic transport (PubMed:36923944, PubMed:32313933). Aberrant formation of the endomembrane system in the oocytes (PubMed:32313933). Defects in pre-rRNA processing in the oocytes (PubMed:32313933). Testis-specific knockdown leads to subfertility in male mice (PubMed:29118343). Abnormal testicular development and defects in spermatogenesis (PubMed:29118343). Belongs to the exosome component 10/RRP6 family. nucleotide binding 3'-5'-exoribonuclease activity nuclear exosome (RNase complex) exosome (RNase complex) nuclear-transcribed mRNA catabolic process, nonsense-mediated decay maturation of 5.8S rRNA exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nuclear-transcribed mRNA catabolic process nucleic acid binding RNA binding single-stranded RNA binding catalytic activity nuclease activity exonuclease activity exoribonuclease activity nucleus nucleolus cytoplasm cytosol nucleobase-containing compound metabolic process rRNA processing RNA processing 3'-5' exonuclease activity dosage compensation by inactivation of X chromosome hydrolase activity negative regulation of telomere maintenance via telomerase transcriptionally active chromatin cellular metabolic process nuclear mRNA surveillance CUT catabolic process nuclear polyadenylation-dependent rRNA catabolic process nuclear polyadenylation-dependent snoRNA catabolic process nuclear polyadenylation-dependent snRNA catabolic process nuclear polyadenylation-dependent tRNA catabolic process nuclear polyadenylation-dependent CUT catabolic process nuclear polyadenylation-dependent antisense transcript catabolic process histone mRNA catabolic process nuclear retention of unspliced pre-mRNA at the site of transcription polyadenylation-dependent snoRNA 3'-end processing regulation of telomerase RNA localization to Cajal body uc008vut.1 uc008vut.2 uc008vut.3 uc008vut.4 uc008vut.5 
ENSMUST00000017430.12 Glod4 ENSMUST00000017430.12 glyoxalase domain containing 4, transcript variant 1 (from RefSeq NM_026029.3) ENSMUST00000017430.1 ENSMUST00000017430.10 ENSMUST00000017430.11 ENSMUST00000017430.2 ENSMUST00000017430.3 ENSMUST00000017430.4 ENSMUST00000017430.5 ENSMUST00000017430.6 ENSMUST00000017430.7 ENSMUST00000017430.8 ENSMUST00000017430.9 GLOD4_MOUSE NM_026029 Q3UUS8 Q9CPV4 Q9CY26 Q9D9F5 uc007kfl.1 uc007kfl.2 uc007kfl.3 uc007kfl.4 Interacts with NUDT9. Mitochondrion Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9CPV4-1; Sequence=Displayed; Name=2; IsoId=Q9CPV4-2; Sequence=VSP_023650, VSP_023651; Name=3; IsoId=Q9CPV4-3; Sequence=VSP_023649; Belongs to the glyoxalase I family. mitochondrion uc007kfl.1 uc007kfl.2 uc007kfl.3 uc007kfl.4 
ENSMUST00000017443.14 Dnttip1 ENSMUST00000017443.14 deoxynucleotidyltransferase, terminal, interacting protein 1 (from RefSeq NM_133763.1) ENSMUST00000017443.1 ENSMUST00000017443.10 ENSMUST00000017443.11 ENSMUST00000017443.12 ENSMUST00000017443.13 ENSMUST00000017443.2 ENSMUST00000017443.3 ENSMUST00000017443.4 ENSMUST00000017443.5 ENSMUST00000017443.6 ENSMUST00000017443.7 ENSMUST00000017443.8 ENSMUST00000017443.9 NM_133763 Q99LB0 TDIF1_MOUSE Tdif1 uc008nvx.1 uc008nvx.2 uc008nvx.3 uc008nvx.4 Increases DNTT terminal deoxynucleotidyltransferase activity (in vitro). Also acts as a transcriptional regulator, binding to the consensus sequence 5'-GNTGCATG-3' following an AT-tract. Associates with RAB20 promoter and positively regulates its transcription. Binds DNA and nucleosomes; may recruit HDAC1 complexes to nucleosomes or naked DNA. Monomer and homodimer (By similarity). A minor proportion may form homotrimers (By similarity). Interacts with ZNF541 (PubMed:18849567). Interacts with the terminal deoxynucleotidyltransferase DNTT (By similarity). Interacts with TRERF1 (By similarity). Identified in a histone deacetylase complex that contains DNTTIP1, HDAC1 and MIDEAS; this complex assembles into a tetramer that contains four copies of each protein chain (By similarity). Component of a histone deacetylase complex containing DNTTIP1, ZNF541, HDAC1 and HDAC2 (By similarity). Identified in a complex with KCTD19, HDAC1, HDAC2 and ZNF541 (PubMed:34075040, PubMed:35341968). Nucleus The N-terminal domain mediates dimerization. The C-terminal domain mediates interaction with DNA and nucleosomes. It contains a HTH motif that mediates recognition of the consensus sequence. histone deacetylase complex DNA binding nucleus nucleoplasm nucleolus enzyme activator activity nucleosome binding protein homodimerization activity positive regulation of catalytic activity uc008nvx.1 uc008nvx.2 uc008nvx.3 uc008nvx.4 
ENSMUST00000017453.12 Cd300lg ENSMUST00000017453.12 CD300 molecule like family member G, transcript variant 4 (from RefSeq NM_027987.3) A2A503 CLM9_MOUSE Clm9 D11Ertd736e ENSMUST00000017453.1 ENSMUST00000017453.10 ENSMUST00000017453.11 ENSMUST00000017453.2 ENSMUST00000017453.3 ENSMUST00000017453.4 ENSMUST00000017453.5 ENSMUST00000017453.6 ENSMUST00000017453.7 ENSMUST00000017453.8 ENSMUST00000017453.9 NM_027987 Q1ERP8 Q1ERP9 Q1ERQ0 Q3UU12 Q6SJP9 Q9D7B8 uc007lqg.1 uc007lqg.2 uc007lqg.3 uc007lqg.4 Receptor which may mediate L-selectin-dependent lymphocyte rollings. Binds SELL in a calcium dependent manner. Binds lymphocyte. Apical cell membrane ; Single-pass type I membrane protein Basolateral cell membrane ; Single-pass type I membrane protein Endosome, multivesicular body membrane ; Single-pass type I membrane protein Note=Exclusively localized on capillary endothelium. Transcytoses across the cytoplasm in the capillary endothelium. Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=isoform C, CD300LG-beta; IsoId=Q1ERP8-1; Sequence=Displayed; Name=2; Synonyms=isoform B, CD300LG-gamma; IsoId=Q1ERP8-2; Sequence=VSP_028413; Name=3; Synonyms=isoform A, CD300LG-delta; IsoId=Q1ERP8-3; Sequence=VSP_028415; Name=4; IsoId=Q1ERP8-4; Sequence=VSP_028413, VSP_028416, VSP_028417; Name=5; Synonyms=isoform D, CD300LG-alpha; IsoId=Q1ERP8-5; Sequence=VSP_028414; Expressed in monocyte cell lines. Expressed in certain types of endothelial and myeloid lineage cells. Expressed in mesenteric lymph nodes (LNs), spleen, thymus, lung, heart and kidney. Expressed in high endothelial venules (HEVs) in peripheral and mesenteric LNs (at protein level). Highly expressed in heart. Slightly expressed in spleen and thymus. Isoform 5 is expressed preferentially in heart. Isoform 1 is expressed predominantly in kidney and liver. Ig-like V-type domain mediates binding to lymphocyte. O-glycosylated with sialylated oligosaccharides. Belongs to the CD300 family. Sequence=CAM23248.1; Type=Erroneous gene model prediction; Evidence=; IgM binding immune system process immunoglobulin transcytosis in epithelial cells endosome plasma membrane membrane integral component of membrane basolateral plasma membrane apical plasma membrane multivesicular body membrane uc007lqg.1 uc007lqg.2 uc007lqg.3 uc007lqg.4 
ENSMUST00000017454.8 Spint4 ENSMUST00000017454.8 serine protease inhibitor, Kunitz type 4 (from RefSeq NM_030058.2) ENSMUST00000017454.1 ENSMUST00000017454.2 ENSMUST00000017454.3 ENSMUST00000017454.4 ENSMUST00000017454.5 ENSMUST00000017454.6 ENSMUST00000017454.7 NM_030058 Q9D263 SPIT4_MOUSE uc008nvr.1 uc008nvr.2 uc008nvr.3 Secreted Highly expressed in the epididymis, in the epithelial cells of the distal caput and early corpus. Expression starts at the time of epididymal maturation. By androgens. Expression diminishes after 1-3 days and disappears 7 days postgonadectomy. molecular_function serine-type endopeptidase inhibitor activity cellular_component extracellular region biological_process negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity uc008nvr.1 uc008nvr.2 uc008nvr.3 
ENSMUST00000017458.11 Mpp2 ENSMUST00000017458.11 membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2), transcript variant 2 (from RefSeq NM_016695.5) B1AQF8 Dlgh2 ENSMUST00000017458.1 ENSMUST00000017458.10 ENSMUST00000017458.2 ENSMUST00000017458.3 ENSMUST00000017458.4 ENSMUST00000017458.5 ENSMUST00000017458.6 ENSMUST00000017458.7 ENSMUST00000017458.8 ENSMUST00000017458.9 MPP2_MOUSE Mpp2 NM_016695 Q3T9W1 Q3TT52 Q3URK8 Q9WV34 uc007lql.1 uc007lql.2 uc007lql.3 uc007lql.4 Postsynaptic MAGUK scaffold protein that links CADM1 cell adhesion molecules to core components of the postsynaptic density (By similarity). In CA1 pyramidal neurons, required for synaptic KCNN2- containing channel function and long-term potentiation expression (PubMed:26880549). Seems to negatively regulate SRC function in epithelial cells (By similarity). Can homomultimerise. Interacts with CACNG2. Interacts (via the SH3-Guanylate kinase-like sub-module) with DLG4/PSD95 and DLGAP1/GKAP. Interacts (via the PDZ domain) with CADM1 (via C-terminus) (By similarity). Interacts with KCNN2/SK2 (via N-terminal domain) (PubMed:26880549). Interacts with SRC (By similarity). Cell projection, dendrite Postsynaptic density Cytoplasm, cytoskeleton Membrane Note=Prominently expressed in the postsynaptic densities of dendritic spines, is also detected in dendritic shafts. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9WV34-1; Sequence=Displayed; Name=2; IsoId=Q9WV34-2; Sequence=VSP_022952; Expressed in pyramidal neurons of CA1 region of the hippocampus. Phosphorylated by SRC. Belongs to the MAGUK family. protein binding cytoplasm cytoskeleton plasma membrane postsynaptic density membrane cell junction PDZ domain binding dendrite dendrite membrane dendritic spine membrane cell projection dendritic spine dendritic shaft ion channel binding synapse postsynaptic membrane protein homooligomerization excitatory postsynaptic potential long-term synaptic potentiation structural constituent of postsynaptic density glutamatergic synapse anchored component of postsynaptic density membrane maintenance of postsynaptic density structure uc007lql.1 uc007lql.2 uc007lql.3 uc007lql.4 
ENSMUST00000017460.6 Ppy ENSMUST00000017460.6 pancreatic polypeptide (from RefSeq NM_008918.2) ENSMUST00000017460.1 ENSMUST00000017460.2 ENSMUST00000017460.3 ENSMUST00000017460.4 ENSMUST00000017460.5 NM_008918 Ppy Q496X5 Q496X5_MOUSE uc007lqm.1 uc007lqm.2 uc007lqm.3 Hormone secreted by pancreatic cells that acts as a regulator of pancreatic and gastrointestinal functions probably by signaling through the G protein-coupled receptor NPY4R2. Secreted Belongs to the NPY family. G-protein coupled receptor binding hormone activity extracellular region signal transduction uc007lqm.1 uc007lqm.2 uc007lqm.3 
ENSMUST00000017488.5 Vtn ENSMUST00000017488.5 vitronectin (from RefSeq NM_011707.2) ENSMUST00000017488.1 ENSMUST00000017488.2 ENSMUST00000017488.3 ENSMUST00000017488.4 NM_011707 P29788 Q5SYG4 Q8VII4 Q91X32 Q9D080 VTNC_MOUSE uc007kjk.1 uc007kjk.2 uc007kjk.3 uc007kjk.4 Vitronectin is a cell adhesion and spreading factor found in serum and tissues. Vitronectin interact with glycosaminoglycans and proteoglycans. Is recognized by certain members of the integrin family and serves as a cell-to-substrate adhesion molecule. Inhibitor of the membrane-damaging effect of the terminal cytolytic complement pathway. Interacts with SERPINE1/PAI1, insulin and C1QBP. Secreted, extracellular space. Plasma. The SMB domain mediates interaction with SERPINE1/PAI1. The heparin-binding domain mediates interaction with insulin (By similarity). Sulfated on tyrosine residues. N- and O-glycosylated. It has been suggested that the active SMB domain may be permitted considerable disulfide bond heterogeneity or variability, thus two alternate disulfide patterns based on 3D structures are described with 1 disulfide bond conserved in both. scavenger receptor activity integrin binding extracellular matrix structural constituent collagen binding extracellular region basement membrane extracellular space cytoplasm endoplasmic reticulum Golgi lumen endocytosis immune response cell adhesion cell-matrix adhesion heparin binding cell proliferation positive regulation of cell-substrate adhesion negative regulation of endopeptidase activity positive regulation of smooth muscle cell migration cell migration extracellular matrix organization polysaccharide binding extracellular matrix positive regulation of protein binding cell adhesion mediated by integrin endodermal cell differentiation identical protein binding intracellular membrane-bounded organelle rough endoplasmic reticulum lumen positive regulation of receptor-mediated endocytosis oligodendrocyte differentiation positive regulation of peptidyl-tyrosine phosphorylation extracellular matrix binding protein polymerization smooth muscle cell-matrix adhesion liver regeneration uc007kjk.1 uc007kjk.2 uc007kjk.3 uc007kjk.4 
ENSMUST00000017530.4 Traf4 ENSMUST00000017530.4 TNF receptor associated factor 4 (from RefSeq NM_009423.4) Cart1 ENSMUST00000017530.1 ENSMUST00000017530.2 ENSMUST00000017530.3 NM_009423 Q61382 Q8BHD9 TRAF4_MOUSE uc007kif.1 uc007kif.2 uc007kif.3 uc007kif.4 Adapter protein with E3 ligase activity that is involved in many diverse biological processes including cell proliferation, migration, differentiation, DNA repair, platelet activation or apoptosis. Promotes EGFR-mediated signaling by facilitating the dimerization of EGFR and downstream AKT activation thereby promoting cell proliferation. Ubiquitinates SMURF2 through 'Lys-48'-linked ubiquitin chain leading to SMURF2 degradation through the proteasome and subsequently osteogenic differentiation. Promotes 'Lys-63'-mediated ubiquitination of CHK1 which in turn activates cell cycle arrest and activation of DNA repair. In addition, promotes an atypical 'Lys-29'- linked ubiquitination at the C-terminal end of IRS1 which is crucial for insulin-like growth factor (IGF) signal transduction (By similarity). Regulates activation of NF-kappa-B in response to signaling through Toll-like receptors. Required for normal skeleton development, and for normal development of the respiratory tract. Required for activation of RPS6KB1 in response to TNF signaling. Modulates TRAF6 functions. Inhibits adipogenic differentiation by activating pyruvate kinase PKM activity and subsequently the beta- catenin signaling pathway (By similarity). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Protein degradation; proteasomal ubiquitin-dependent pathway. Homotrimer. Interacts with LTBR/TNFRSF3, NGFR/TNFRSF16, RPS6KB1 and TGFB1I1. Interacts with SMURF1. Interacts (via TRAF domain) with MAP3K4 (via kinase domain). Interacts with NCF1, TICAM1, IRAK1 and TRAF6, and is probably part of a complex containing TRAF4, NCF1, TICAM1, IRAK1 and TRAF6. Interacts (via MATH domain) with GP6 and GP1BB. Interacts with EGFR (via C-terminal region); this interaction promotes the formation of EGFR asymmetric dimers. Interacts with PKM; this interaction promotes PKM kinase activity. Cytoplasm Nucleus Cytoplasm, perinuclear region Cell junction, tight junction Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasm, cytoskeleton Predominantly expressed in brain. Preferentially expressed by postmitotic undifferentiated neurons in developing central (CNS) and peripheral (PNS) nervous system, and in nervous tissues of sensory organs. In the embryo, protein expression was shown in brain, thymus, salivary glands and intestine. In the adult, protein expression is restricted to the brain (hippocampus and olfactory bulb). Strongly expressed throughout embryogenesis with a maximum from 8.5 to 13.5 dpc. The coiled coil domain mediates homo- and hetero- oligomerization. The MATH/TRAF domain binds to receptor cytoplasmic domains. Polyubiquitinated, leading to its proteasomal degradation (By similarity). Ubiquitinated at Lys-263 by the SCF(FBXL2) complex, leading to its degradation by the proteasome (PubMed:23542741). Mice exhibit considerable phenotypic variability, depending in part on the strain. In one strain pups are born at the expected Mendelian frequency, while in another strain up to one third die during embryogenesis. Mutants that reach adulthood are fertile, but have on average three pups per litter instead of ten in wild-type. Mutants have an apparently normal immune response, with no defects in the development of T and B-lymphocytes, granulocytes, macrophages and dendritic cells. Mutants have respiratory problems, due to developmental defects of the trachea, stem bronchi and rib cage. They exhibit severe skeletal alterations at the level of the spinal column, including scoliosis and kyphosis, and have curly tails. Many also display neural tube closure defects. Belongs to the TNF receptor-associated factor family. B subfamily. tumor necrosis factor receptor binding nucleus cytoplasm cytoskeleton plasma membrane bicellular tight junction apoptotic process signal transduction activation of NF-kappaB-inducing kinase activity multicellular organism development respiratory gaseous exchange zinc ion binding membrane protein kinase binding cell junction respiratory tube development ubiquitin protein ligase binding thioesterase binding macromolecular complex identical protein binding regulation of apoptotic process positive regulation of protein kinase activity positive regulation of JNK cascade metal ion binding perinuclear region of cytoplasm WW domain binding positive regulation of protein homodimerization activity uc007kif.1 uc007kif.2 uc007kif.3 uc007kif.4 
ENSMUST00000017534.15 Aldoc ENSMUST00000017534.15 aldolase C, fructose-bisphosphate, transcript variant 2 (from RefSeq NM_001303423.1) ALDOC_MOUSE Aldo3 ENSMUST00000017534.1 ENSMUST00000017534.10 ENSMUST00000017534.11 ENSMUST00000017534.12 ENSMUST00000017534.13 ENSMUST00000017534.14 ENSMUST00000017534.2 ENSMUST00000017534.3 ENSMUST00000017534.4 ENSMUST00000017534.5 ENSMUST00000017534.6 ENSMUST00000017534.7 ENSMUST00000017534.8 ENSMUST00000017534.9 NM_001303423 P05063 Q64011 Q8CA91 Q99K96 Q9DBA4 Q9JK32 Scrg2 uc007kiw.1 uc007kiw.2 uc007kiw.3 uc007kiw.4 uc007kiw.5 This gene encodes a member of the aldolase family of enzymes that is mainly expressed in neuronal tissues. The encoded protein is an enzyme of the glycolysis pathway, and catalyzes the conversion of fructose-1,6-bisphosphate to glyceraldehyde-3-phosphate and dihydroxyacetone phosphate. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]. Reaction=beta-D-fructose 1,6-bisphosphate = D-glyceraldehyde 3- phosphate + dihydroxyacetone phosphate; Xref=Rhea:RHEA:14729, ChEBI:CHEBI:32966, ChEBI:CHEBI:57642, ChEBI:CHEBI:59776; EC=4.1.2.13; Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 4/4. Homotetramer. Interacts with ATP6V1E1 (By similarity). Expressed exclusively in Purkinje cells in bands running from anterior to posterior across most of the cerebellum. Expressed at higher levels in the brains of BSE-infected animals. Expression begins in the first week of postnatal life. In vertebrates, three forms of this ubiquitous glycolytic enzyme are found, aldolase A in muscle, aldolase B in liver and aldolase C in brain. Belongs to the class I fructose-bisphosphate aldolase family. catalytic activity fructose-bisphosphate aldolase activity cytoplasm mitochondrion cytosol glycolytic process apoptotic process aging cytoskeletal protein binding lyase activity fructose 1,6-bisphosphate metabolic process axon epithelial cell differentiation protein homotetramerization protein heterotetramerization postsynaptic cytosol uc007kiw.1 uc007kiw.2 uc007kiw.3 uc007kiw.4 uc007kiw.5 
ENSMUST00000017544.9 Stac2 ENSMUST00000017544.9 SH3 and cysteine rich domain 2 (from RefSeq NM_146028.4) ENSMUST00000017544.1 ENSMUST00000017544.2 ENSMUST00000017544.3 ENSMUST00000017544.4 ENSMUST00000017544.5 ENSMUST00000017544.6 ENSMUST00000017544.7 ENSMUST00000017544.8 NM_146028 Q8BV93 Q8K2U4 Q8R1B0 STAC2_MOUSE uc007lfl.1 uc007lfl.2 uc007lfl.3 Plays a redundant role in promoting the expression of calcium channel CACNA1S at the cell membrane, and thereby contributes to increased channel activity (PubMed:29467163). Slows down the inactivation rate of the calcium channel CACNA1C (PubMed:25548159, PubMed:29363593). Interacts (via SH3 domains) with CACNA1S (PubMed:29467163). Interacts (via SH3 domains) with CACNA1C (PubMed:29363593). Has much lower affinity for CACNA1C than for CACNA1S (By similarity). Cytoplasm, cytosol ll membrane ; Peripheral membrane protein ; Cytoplasmic side Cell membrane, sarcolemma ; Peripheral membrane protein ; Cytoplasmic side Note=Colocalizes with CACNA1C at the plasma membrane of transfected cells. Detected in cerebellum, forebrain and midbrain, and in the eye. Up-regulated in cerebral ischemia. skeletal muscle contraction molecular_function cytoplasm cytosol plasma membrane membrane extrinsic component of cytoplasmic side of plasma membrane intracellular signal transduction sarcolemma metal ion binding positive regulation of voltage-gated calcium channel activity positive regulation of protein localization to plasma membrane uc007lfl.1 uc007lfl.2 uc007lfl.3 
ENSMUST00000017548.7 Rpl19 ENSMUST00000017548.7 ribosomal protein L19, transcript variant 1 (from RefSeq NM_009078.2) ENSMUST00000017548.1 ENSMUST00000017548.2 ENSMUST00000017548.3 ENSMUST00000017548.4 ENSMUST00000017548.5 ENSMUST00000017548.6 NM_009078 Q5I0T8 Q5I0T8_MOUSE Rpl19 uc007lfj.1 uc007lfj.2 uc007lfj.3 uc007lfj.4 Component of the large ribosomal subunit. Belongs to the eukaryotic ribosomal protein eL19 family. cytoplasmic translation RNA binding structural constituent of ribosome ribosome translation cytosolic large ribosomal subunit polysomal ribosome uc007lfj.1 uc007lfj.2 uc007lfj.3 uc007lfj.4 
ENSMUST00000017549.13 Nek8 ENSMUST00000017549.13 NIMA (never in mitosis gene a)-related expressed kinase 8 (from RefSeq NM_080849.3) ENSMUST00000017549.1 ENSMUST00000017549.10 ENSMUST00000017549.11 ENSMUST00000017549.12 ENSMUST00000017549.2 ENSMUST00000017549.3 ENSMUST00000017549.4 ENSMUST00000017549.5 ENSMUST00000017549.6 ENSMUST00000017549.7 ENSMUST00000017549.8 ENSMUST00000017549.9 Jck NEK8_MOUSE NM_080849 Q3U498 Q91ZR4 Q9D685 uc007kih.1 uc007kih.2 uc007kih.3 uc007kih.4 This gene encodes a NIMA-related kinase. Members of this serine/threonine protein kinase family are structurally-related to NIMA (never in mitosis, gene A) which controls mitotic signaling in Aspergillus nidulans. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC070457.1, AF407579.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells. May regulate ciliary biogenesis through targeting of proteins to the cilia. Plays a role in organogenesis and is involved in the regulation of the Hippo signaling pathway. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Interacts with PKD2; may regulate PKD2 targeting to the cilium (PubMed:18235101). Component of a complex containing at least ANKS6, INVS, NEK8 and NPHP3 (By similarity). ANKS6 may organize complex assembly by linking INVS and NPHP3 to NEK8 and INVS may target the complex to the proximal ciliary axoneme (By similarity). Interacts with ANKS3 (PubMed:25671767). Q91ZR4; O89019: Invs; NbExp=2; IntAct=EBI-4282339, EBI-4281337; Cytoplasm Cytoplasm, cytoskeleton Cell projection, cilium Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Note=Predominantly cytoplasmic. Localizes to the proximal region of the primary cilium and is not observed in dividing cells. Kidney, liver, and testis. Note=Defects in Nek8 are the cause of autosomal recessive juvenile polycystic kidney disease (ARJPKD). Belongs to the protein kinase superfamily. NEK Ser/Thr protein kinase family. NIMA subfamily. nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding cytoplasm centrosome cytoskeleton cilium protein phosphorylation chromosome segregation determination of left/right symmetry heart development animal organ morphogenesis kinase activity phosphorylation transferase activity regulation of hippo signaling cell projection metal ion binding ciliary inversin compartment ciliary base uc007kih.1 uc007kih.2 uc007kih.3 uc007kih.4 
ENSMUST00000017552.13 Cacnb1 ENSMUST00000017552.13 calcium channel, voltage-dependent, beta 1 subunit, transcript variant 2 (from RefSeq NM_145121.4) A2A543 A2A543_MOUSE Cacnb1 ENSMUST00000017552.1 ENSMUST00000017552.10 ENSMUST00000017552.11 ENSMUST00000017552.12 ENSMUST00000017552.2 ENSMUST00000017552.3 ENSMUST00000017552.4 ENSMUST00000017552.5 ENSMUST00000017552.6 ENSMUST00000017552.7 ENSMUST00000017552.8 ENSMUST00000017552.9 NM_145121 uc007lff.1 uc007lff.2 uc007lff.3 uc007lff.4 uc007lff.5 Cell membrane, sarcolemma ; Peripheral membrane protein ; Cytoplasmic side Membrane ; Peripheral membrane protein Belongs to the calcium channel beta subunit family. voltage-gated calcium channel activity voltage-gated calcium channel complex calcium ion transmembrane transport regulation of calcium ion transmembrane transport via high voltage-gated calcium channel cellular response to beta-amyloid uc007lff.1 uc007lff.2 uc007lff.3 uc007lff.4 uc007lff.5 
ENSMUST00000017561.15 Plxdc1 ENSMUST00000017561.15 plexin domain containing 1, transcript variant 2 (from RefSeq NM_028199.3) A2A537 A2A538 ENSMUST00000017561.1 ENSMUST00000017561.10 ENSMUST00000017561.11 ENSMUST00000017561.12 ENSMUST00000017561.13 ENSMUST00000017561.14 ENSMUST00000017561.2 ENSMUST00000017561.3 ENSMUST00000017561.4 ENSMUST00000017561.5 ENSMUST00000017561.6 ENSMUST00000017561.7 ENSMUST00000017561.8 ENSMUST00000017561.9 NM_028199 PLDX1_MOUSE Q29R73 Q8BM20 Q91ZV7 Q9CWV5 Tem7 uc007lfc.1 uc007lfc.2 uc007lfc.3 uc007lfc.4 Plays a critical role in endothelial cell capillary morphogenesis. Interacts with NID1. May interact with CTTN. Q91ZV7; P08460: Nid1; Xeno; NbExp=2; IntAct=EBI-8280807, EBI-8280787; Cell membrane ; Single-pass type I membrane protein Cell junction, tight junction Secreted Note=Localized predominantly at the tight junctions of vascular endothelial cells and to a lesser extent at the luminal surface of vascular endothelial cells. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q91ZV7-1; Sequence=Displayed; Name=2; IsoId=Q91ZV7-2; Sequence=VSP_017975; Detected in brain. Highly expressed in Purkinje cells of the cerebellum. Expression increases in endothelial cells undergoing capillary morphogenesis. Belongs to the plexin family. angiogenesis protein binding cytoplasm plasma membrane bicellular tight junction membrane integral component of membrane spinal cord development cell junction dendrite neuronal cell body receptor complex uc007lfc.1 uc007lfc.2 uc007lfc.3 uc007lfc.4 
ENSMUST00000017572.14 Psmd11 ENSMUST00000017572.14 proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 (from RefSeq NM_178616.3) ENSMUST00000017572.1 ENSMUST00000017572.10 ENSMUST00000017572.11 ENSMUST00000017572.12 ENSMUST00000017572.13 ENSMUST00000017572.2 ENSMUST00000017572.3 ENSMUST00000017572.4 ENSMUST00000017572.5 ENSMUST00000017572.6 ENSMUST00000017572.7 ENSMUST00000017572.8 ENSMUST00000017572.9 NM_178616 PSD11_MOUSE Q8BG32 uc007kmf.1 uc007kmf.2 uc007kmf.3 Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. In the complex, PSMD11 is required for proteasome assembly. Plays a key role in increased proteasome activity in embryonic stem cells (ESCs): its high expression in ESCs promotes enhanced assembly of the 26S proteasome, followed by higher proteasome activity. Component of the 19S proteasome regulatory particle complex. The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP). The regulatory particle is made of a lid composed of 9 subunits including PSMD11, a base containing 6 ATPases and few additional components. Belongs to the proteasome subunit S9 family. proteasome complex structural molecule activity protein binding proteasome regulatory particle ubiquitin-dependent protein catabolic process proteasome regulatory particle, lid subcomplex proteasome accessory complex proteasome assembly stem cell differentiation uc007kmf.1 uc007kmf.2 uc007kmf.3 
ENSMUST00000017590.9 C1qtnf1 ENSMUST00000017590.9 C1q and tumor necrosis factor related protein 1, transcript variant 3 (from RefSeq NM_001204130.1) C1QT1_MOUSE ENSMUST00000017590.1 ENSMUST00000017590.2 ENSMUST00000017590.3 ENSMUST00000017590.4 ENSMUST00000017590.5 ENSMUST00000017590.6 ENSMUST00000017590.7 ENSMUST00000017590.8 NM_001204130 Q80VI9 Q9QXP7 Zsig37 uc007mpg.1 uc007mpg.2 uc007mpg.3 uc007mpg.4 Secreted protein binding collagen binding extracellular region collagen trimer extracellular space integral component of plasma membrane positive regulation of cytosolic calcium ion concentration negative regulation of platelet activation positive regulation of gene expression regulation of glucose metabolic process identical protein binding positive regulation of MAPK cascade positive regulation of protein kinase B signaling negative regulation of platelet aggregation positive regulation of aldosterone secretion uc007mpg.1 uc007mpg.2 uc007mpg.3 uc007mpg.4 
ENSMUST00000017597.5 Pipox ENSMUST00000017597.5 pipecolic acid oxidase (from RefSeq NM_008952.2) ENSMUST00000017597.1 ENSMUST00000017597.2 ENSMUST00000017597.3 ENSMUST00000017597.4 NM_008952 O55223 Pso Q9D826 SOX_MOUSE uc007khm.1 uc007khm.2 uc007khm.3 uc007khm.4 Metabolizes sarcosine, L-pipecolic acid and L-proline. Reaction=H2O + O2 + sarcosine = formaldehyde + glycine + H2O2; Xref=Rhea:RHEA:13313, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:16842, ChEBI:CHEBI:57305, ChEBI:CHEBI:57433; EC=1.5.3.1; Reaction=L-pipecolate + O2 = H(+) + H2O2 + L-1-piperideine-6- carboxylate; Xref=Rhea:RHEA:11992, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:58769, ChEBI:CHEBI:61185; EC=1.5.3.7; Name=FAD; Xref=ChEBI:CHEBI:57692; Note=Binds 1 FAD per subunit.; Monomer. Peroxisome Kidney and liver. Belongs to the MSOX/MTOX family. peroxisome sarcosine oxidase activity oxidoreductase activity L-lysine catabolic process to acetyl-CoA via L-pipecolate tetrahydrofolate metabolic process L-pipecolate oxidase activity oxidation-reduction process uc007khm.1 uc007khm.2 uc007khm.3 uc007khm.4 
ENSMUST00000017604.10 Cyba ENSMUST00000017604.10 cytochrome b-245, alpha polypeptide, transcript variant 1 (from RefSeq NM_007806.3) CY24A_MOUSE Cyba ENSMUST00000017604.1 ENSMUST00000017604.2 ENSMUST00000017604.3 ENSMUST00000017604.4 ENSMUST00000017604.5 ENSMUST00000017604.6 ENSMUST00000017604.7 ENSMUST00000017604.8 ENSMUST00000017604.9 NM_007806 Q3U820 Q61462 Q9CWB9 Q9D2W2 uc009nsp.1 uc009nsp.2 uc009nsp.3 uc009nsp.4 Critical component of the membrane-bound oxidase of phagocytes that generates superoxide. Associates with NOX3 to form a functional NADPH oxidase constitutively generating superoxide. Composed of a heavy chain (beta) and a light chain (alpha). Component of an NADPH oxidase complex composed of a heterodimer formed by the membrane proteins CYBA and CYBB and the cytosolic subunits NCF1, NCF2 and NCF4. Interacts with NCF1 (via SH3 domain). Interacts with DUOX1, DUOX2 and TPO. Interacts with NOX4. Interacts with calprotectin (S100A8/9) (By similarity). Interacts with SH3PXD2A (PubMed:19755709). Interacts with GBP7 (PubMed:21551061). Interacts with NOXO1 (By similarity). Forms a heterodimer with NOX3 and is essential for activity and cell membrane localization of NOX3 (By similarity). Q61462; Q61093: Cybb; NbExp=4; IntAct=EBI-15795776, EBI-6654585; Cell membrane Note=As unassembled monomer may localize to the endoplasmic reticulum. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q61462-1; Sequence=Displayed; Name=2; IsoId=Q61462-2; Sequence=VSP_001248; The strongest level of expression is found in kidney, peritoneal neutrophils and peritoneal macrophages, and a lower level in spleen and small intestine. Very low level of expression can be noted in brain, liver, testis, and heart. The heme prosthetic group could be coordinated with residues of the light chain, the heavy chain, or both, and it is possible that more than one heme is present per cytochrome b-245. Phosphorylation at Thr-147 enhances NADPH oxidase activity by promoting p47phox binding. Ubiquitinated at Lys-149 likely by RNF145. Mice show defects in invadopodia biogenesis (PubMed:19755709). Mutants have a very sever defect in controlling bacterial replication (PubMed:28351984). Mice show spontaneous trunk curland head bobbing and fail to exhibit contact-rghting reflex (PubMed:28351984). Belongs to the p22phox family. response to hypoxia stress fiber positive regulation of endothelial cell proliferation negative regulation of glomerular filtration by angiotensin protein binding nucleus cytoplasm mitochondrion endosome Golgi apparatus plasma membrane focal adhesion superoxide metabolic process inflammatory response electron carrier activity response to activity smooth muscle hypertrophy membrane superoxide-generating NADPH oxidase activity apical plasma membrane oxidoreductase activity cytochrome complex assembly SH3 domain binding heme binding electron transport chain positive regulation of cell growth dendrite response to nutrient levels positive regulation of interleukin-6 production positive regulation of tumor necrosis factor production positive regulation of superoxide anion generation positive regulation of NAD(P)H oxidase activity positive regulation of toll-like receptor 2 signaling pathway response to drug superoxide anion generation NADPH oxidase complex neuronal cell body innate immune response respiratory burst positive regulation of blood pressure metal ion binding protein heterodimerization activity positive regulation of smooth muscle cell proliferation hydrogen peroxide biosynthetic process positive regulation of phagocytosis regulation of release of sequestered calcium ion into cytosol oxidation-reduction process positive regulation of mucus secretion response to interleukin-1 cellular response to amino acid stimulus cellular response to mechanical stimulus cellular response to organic substance cellular response to glucose stimulus cellular response to tumor necrosis factor cellular response to organic cyclic compound cellular response to gamma radiation reactive oxygen species metabolic process perinuclear endoplasmic reticulum positive regulation of defense response to bacterium positive regulation of reactive oxygen species biosynthetic process response to aldosterone cellular response to angiotensin cellular response to L-glutamine uc009nsp.1 uc009nsp.2 uc009nsp.3 uc009nsp.4 
ENSMUST00000017610.11 Timp2 ENSMUST00000017610.11 tissue inhibitor of metalloproteinase 2 (from RefSeq NM_011594.3) ENSMUST00000017610.1 ENSMUST00000017610.10 ENSMUST00000017610.2 ENSMUST00000017610.3 ENSMUST00000017610.4 ENSMUST00000017610.5 ENSMUST00000017610.6 ENSMUST00000017610.7 ENSMUST00000017610.8 ENSMUST00000017610.9 NM_011594 Q6PI17 Q6PI17_MOUSE Timp2 uc007mow.1 uc007mow.2 uc007mow.3 uc007mow.4 Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. Interacts (via the C-terminal) with MMP2 (via the C-terminal PEX domain); the interaction inhibits the MMP2 activity. Belongs to the protease inhibitor I35 (TIMP) family. protease binding integrin binding extracellular region extracellular space central nervous system development aging metalloendopeptidase inhibitor activity zinc ion binding negative regulation of cell proliferation cell surface negative regulation of endopeptidase activity peptidase inhibitor activity growth cone regulation of Rap protein signal transduction response to cytokine response to drug neuron projection neuronal cell body positive regulation of MAPK cascade positive regulation of neuron differentiation positive regulation of adenylate cyclase activity negative regulation of proteolysis negative regulation of mitotic cell cycle negative regulation of Ras protein signal transduction negative regulation of metallopeptidase activity uc007mow.1 uc007mow.2 uc007mow.3 uc007mow.4 
ENSMUST00000017620.10 Cant1 ENSMUST00000017620.10 Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > IDP >> UTP > CDP = GTP = ITP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP. Involved in proteoglycan synthesis. (from UniProt Q8VCF1) AK085059 B1AQJ8 CANT1_MOUSE ENSMUST00000017620.1 ENSMUST00000017620.2 ENSMUST00000017620.3 ENSMUST00000017620.4 ENSMUST00000017620.5 ENSMUST00000017620.6 ENSMUST00000017620.7 ENSMUST00000017620.8 ENSMUST00000017620.9 Q8C3R8 Q8C4T6 Q8VCF1 Q9D3F2 Q9D9R1 uc007mpe.1 uc007mpe.2 Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > IDP >> UTP > CDP = GTP = ITP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP. Involved in proteoglycan synthesis. Reaction=a ribonucleoside 5'-diphosphate + H2O = a ribonucleoside 5'- phosphate + H(+) + phosphate; Xref=Rhea:RHEA:36799, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:43474, ChEBI:CHEBI:57930, ChEBI:CHEBI:58043; EC=3.6.1.6; Evidence=; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Monomer. Homodimer; dimerization is Ca(2+)-dependent. Endoplasmic reticulum membrane ; Single-pass type II membrane protein Golgi apparatus, Golgi stack membrane ; Single-pass type II membrane protein Note=Processed form: Secreted. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8VCF1-1; Sequence=Displayed; Name=2; IsoId=Q8VCF1-2; Sequence=VSP_013763, VSP_013764; Name=3; IsoId=Q8VCF1-3; Sequence=VSP_013762; Belongs to the apyrase family. Sequence=BAB31014.1; Type=Frameshift; Evidence=; Sequence=BAC39351.1; Type=Frameshift; Evidence=; guanosine-diphosphatase activity calcium ion binding endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus ribonucleoside diphosphate catabolic process membrane integral component of membrane hydrolase activity nucleoside-diphosphatase activity proteoglycan biosynthetic process Golgi cisterna membrane protein homodimerization activity adenosine-diphosphatase activity uridine-diphosphatase activity metal ion binding uc007mpe.1 uc007mpe.2 
ENSMUST00000017622.12 Zc3h18 ENSMUST00000017622.12 zinc finger CCCH-type containing 18, transcript variant 1 (from RefSeq NM_001029993.1) ENSMUST00000017622.1 ENSMUST00000017622.10 ENSMUST00000017622.11 ENSMUST00000017622.2 ENSMUST00000017622.3 ENSMUST00000017622.4 ENSMUST00000017622.5 ENSMUST00000017622.6 ENSMUST00000017622.7 ENSMUST00000017622.8 ENSMUST00000017622.9 G3X8T2 G3X8T2_MOUSE NM_001029993 Zc3h18 uc009nsm.1 uc009nsm.2 uc009nsm.3 uc009nsm.4 nuclear speck uc009nsm.1 uc009nsm.2 uc009nsm.3 uc009nsm.4 
ENSMUST00000017629.12 Top2b ENSMUST00000017629.12 topoisomerase (DNA) II beta (from RefSeq NM_009409.3) ENSMUST00000017629.1 ENSMUST00000017629.10 ENSMUST00000017629.11 ENSMUST00000017629.2 ENSMUST00000017629.3 ENSMUST00000017629.4 ENSMUST00000017629.5 ENSMUST00000017629.6 ENSMUST00000017629.7 ENSMUST00000017629.8 ENSMUST00000017629.9 NM_009409 Q64511 Q7TQG4 TOP2B_MOUSE uc007shc.1 uc007shc.2 uc007shc.3 Key decatenating enzyme that alters DNA topology by binding to two double-stranded DNA molecules, generating a double-stranded break in one of the strands, passing the intact strand through the broken strand, and religating the broken strand. Plays a role in B-cell differentiation. Reaction=ATP-dependent breakage, passage and rejoining of double- stranded DNA.; EC=5.6.2.2; Evidence= Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence= Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence= Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence= Note=Binds two Mg(2+) per subunit. The magnesium ions form salt bridges with both the protein and the DNA. Can also accept other divalent metal cations, such as Mn(2+) or Ca(2+). Homodimer (By similarity). Interacts with KIAA1210 (PubMed:28203736). Interacts with PLSCR1 (By similarity). Q64511; Q9WVE0: Aicda; NbExp=3; IntAct=EBI-2325586, EBI-3835567; Nucleus, nucleolus Nucleus, nucleoplasm Nucleus Knockout animals have B-cell developmental defects affecting multiple stages of development likely due to transcriptional defects. These mutant mice have altered splenic follicle structure with reduce marginal zone and follicular B-cell zones; immunophenotyping show decreased B- cells at all stages of development. Mutant mice fail to mount an antibody response to vaccination and B-cells fail to proliferate in response to stimulation, indicating deficits in B-cell function. Eukaryotic topoisomerase I and II can relax both negative and positive supercoils, whereas prokaryotic enzymes relax only negative supercoils. Belongs to the type II topoisomerase family. nucleotide binding resolution of meiotic recombination intermediates sister chromatid segregation neuron migration DNA binding chromatin binding DNA topoisomerase activity DNA topoisomerase type II (ATP-hydrolyzing) activity protein kinase C binding protein binding ATP binding nucleus nucleoplasm nucleolus cytosol DNA metabolic process DNA topological change axonogenesis cell aging protein C-terminus binding isomerase activity viral integration complex enzyme binding forebrain development histone deacetylase binding ribonucleoprotein complex binding mitotic DNA integrity checkpoint positive regulation of single stranded viral RNA replication via double stranded DNA intermediate metal ion binding protein heterodimerization activity cellular response to hydrogen peroxide cellular response to ATP ribonucleoprotein complex positive regulation of double-strand break repair via nonhomologous end joining heterochromatin chromosome uc007shc.1 uc007shc.2 uc007shc.3 
ENSMUST00000017637.13 Igfbp4 ENSMUST00000017637.13 insulin-like growth factor binding protein 4 (from RefSeq NM_010517.4) ENSMUST00000017637.1 ENSMUST00000017637.10 ENSMUST00000017637.11 ENSMUST00000017637.12 ENSMUST00000017637.2 ENSMUST00000017637.3 ENSMUST00000017637.4 ENSMUST00000017637.5 ENSMUST00000017637.6 ENSMUST00000017637.7 ENSMUST00000017637.8 ENSMUST00000017637.9 IBP4_MOUSE Igfbp-4 NM_010517 O35666 P47879 Q3TMV0 uc007lie.1 uc007lie.2 uc007lie.3 uc007lie.4 IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Binds IGF2 more than IGF1. P47879; Q61091: Fzd8; NbExp=3; IntAct=EBI-15706768, EBI-6171689; P47879; O75581: LRP6; Xeno; NbExp=4; IntAct=EBI-15706768, EBI-910915; Secreted. regulation of cell growth protein binding insulin-like growth factor binding extracellular region extracellular space inflammatory response regulation of glucose metabolic process growth factor binding insulin-like growth factor I binding insulin-like growth factor II binding regulation of growth positive regulation of MAPK cascade regulation of insulin-like growth factor receptor signaling pathway positive regulation of insulin-like growth factor receptor signaling pathway type B pancreatic cell proliferation uc007lie.1 uc007lie.2 uc007lie.3 uc007lie.4 
ENSMUST00000017692.15 Suz12 ENSMUST00000017692.15 SUZ12 polycomb repressive complex 2 subunit, transcript variant 1 (from RefSeq NM_199196.2) B1AQE5 D11Ertd530e ENSMUST00000017692.1 ENSMUST00000017692.10 ENSMUST00000017692.11 ENSMUST00000017692.12 ENSMUST00000017692.13 ENSMUST00000017692.14 ENSMUST00000017692.2 ENSMUST00000017692.3 ENSMUST00000017692.4 ENSMUST00000017692.5 ENSMUST00000017692.6 ENSMUST00000017692.7 ENSMUST00000017692.8 ENSMUST00000017692.9 Kiaa0160 NM_199196 Q80U70 Q80Y10 Q99L07 SUZ12_MOUSE uc007klc.1 uc007klc.2 This gene encodes a core component of the polycomb repressive complex 2 (PRC2) that also includes, at least, embryonic ectoderm development protein (EED) and enhancer of zeste homolog 1 or 2 (EZH1 or EZH2). Through the methyltransferase activity of EZH1 or EZH2, the PRC2 complex methylates Lys9 and Lys27 of histone 3 and Lys26 of histone 1, leading to recruitment of the PRC1 complex, histone 2A ubiquitylation and transcriptional repression of the target genes. This gene product is essential for the activity and integrity of the PRC2 complex, and is required for X chromosome inactivation, stem cell maintenance and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]. Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' (H3K9me) and 'Lys-27' (H3K27me) of histone H3, leading to transcriptional repression of the affected target gene. The PRC2/EED-EZH2 complex may also serve as a recruiting platform for DNA methyltransferases, thereby linking two epigenetic repression systems (By similarity). Genes repressed by the PRC2/EED- EZH2 complex include HOXA7, HOXB6 and HOXC8. Component of the PRC2 complex, which consists of the core subunits EED, EZH1 or EZH2, SUZ12, and RBBP4, and various combinations of accessory subunits including AEBP2, JARID2, PHF19, MTF2 and EPOP (PubMed:19026780, PubMed:20144788). Within the complex, interacts (via C2H2 zinc finger domain) with JARID2 and EPOP; JARID2 and EPOP compete for SUZ12 binding (By similarity). Also interacts with AEBP2 and PHF19 (By similarity). Forms a monomeric PRC2.2 (class 2) complex consisting of at least SUZ12, RBBP4, AEBP2 and JARID2 (By similarity). Forms a dimeric PRC2.1 (class 1, PRC-PCL) complex consisting of at least SUZ12, RBBP4, and PHF19 or MTF2; PHF19 and MTF2 stabilize the dimeric structure which enhances PRC2 interaction with chromatin (By similarity). The minimum components required for methyltransferase activity of the PRC2/EZH2 complex are EED, EZH2 and SUZ12 (By similarity). The PRC2 complex may also interact with DNMT1, DNMT3A, DNMT3B and PHF1 via the EZH2 subunit and with SIRT1 via the SUZ12 subunit. Interacts with WDR77 (PubMed:16712789). Interacts with histone H1. Interacts with CDYL (By similarity). Interacts with BMAL1 (PubMed:23970558). Interacts with EZHIP (via C-terminal region) (By similarity). Interacts with ARMC12 (By similarity). Q80U70; Q7TNS8: Epop; NbExp=2; IntAct=EBI-2526494, EBI-16024836; Q80U70; Q61188: Ezh2; NbExp=10; IntAct=EBI-2526494, EBI-904311; Q80U70; Q6AXH7: Ezh2; NbExp=3; IntAct=EBI-2526494, EBI-6876582; Q80U70; Q62315: Jarid2; NbExp=13; IntAct=EBI-2526494, EBI-493592; Q80U70; Q3UXZ9: Kdm5a; NbExp=2; IntAct=EBI-2526494, EBI-2531441; Nucleus Chromosome Note=Localizes to the inactive X chromosome in trophoblast stem cells. Expressed in embryonic stem cells. Expression increases in prostate during prostate tumor development. Sumoylated, probably by PIAS2. Mice exhibit early embryonic lethality and defects in gastrulation accompanied by reduced methylation of 'Lys-27' of histone H3. Belongs to the VEFS (VRN2-EMF2-FIS2-SU(Z)12) family. Sequence=BAC65495.1; Type=Miscellaneous discrepancy; Note=Unknown reasons.; Evidence=; negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding sex chromatin chromatin binding RNA binding protein binding nucleus nucleoplasm chromosome nucleolus chromatin organization positive regulation of cell proliferation histone methylation histone ubiquitination RSC complex nuclear body chromatin DNA binding negative regulation of chemokine production protein-DNA complex methylated histone binding ESC/E(Z) complex histone methyltransferase activity negative regulation of tyrosine phosphorylation of STAT protein sequence-specific DNA binding negative regulation of cell differentiation metal ion binding histone methyltransferase activity (H3-K27 specific) negative regulation of epithelial cell proliferation histone H3-K27 trimethylation promoter-specific chromatin binding uc007klc.1 uc007klc.2 
ENSMUST00000017694.7 Atad5 ENSMUST00000017694.7 ATPase family, AAA domain containing 5 (from RefSeq NM_001029856.2) ATAD5_MOUSE ENSMUST00000017694.1 ENSMUST00000017694.2 ENSMUST00000017694.3 ENSMUST00000017694.4 ENSMUST00000017694.5 ENSMUST00000017694.6 Frag1 NM_001029856 Q3TMG5 Q3UW85 Q3V306 Q3V3T9 Q4QY64 Q5SSK4 Q8BUH4 Q8CGG7 uc007klg.1 uc007klg.2 uc007klg.3 Has an important role in DNA replication and in maintaining genome integrity during replication stress. Involved in a RAD9A-related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis. Modulates the RAD9A interaction with BCL2 and thereby induces DNA damage-induced apoptosis (PubMed:15983387). Promotes PCNA deubiquitination by recruiting the ubiquitin-specific protease 1 (USP1) and WDR48 thereby down-regulating the error-prone damage bypass pathway. As component of the ATAD5 RFC-like complex, regulates the function of the DNA polymerase processivity factor PCNA by unloading the ring-shaped PCNA homotrimer from DNA after replication during the S phase of the cell cycle. This seems to be dependent on its ATPase activity. Plays important roles in restarting stalled replication forks under replication stress, by unloading the PCNA homotrimer from DNA and recruiting RAD51 possibly through an ATR- dependent manner. Ultimately this enables replication fork regression, breakage, and eventual fork restart. Both the PCNA unloading activity and the interaction with WDR48 are required to efficiently recruit RAD51 to stalled replication forks. Promotes the generation of MUS81- mediated single-stranded DNA-associated breaks in response to replication stress, which is an alternative pathway to restart stalled/regressed replication forks (By similarity). Component of a heteropentameric replication factor ATAD5 RFC- like complex composed of one large subunit (ATAD5) and four small subunits (RFC2, RFC3, RFC4 and RFC5). Within the ATAD5 RFC-like complex, interacts with RFC2, RFC4 and RFC5. Within the ATAD5 RFC-like complex, interacts directly via-N terminal with RAD51; the interactions is enhanced under replication stress (By similarity). Interacts with RB1 predominantly in G1 phase via its LXCXE motif (PubMed:15983387). Interacts with RAD9A in growing cells (PubMed:15983387). The interaction with RAD9A is reduced after exposure to DNA replication- inhibiting agents (PubMed:15983387). Interacts with BRD4. Interacts with PCNA. Interacts with deubiquitinating enzyme USP1, and its associated factor, WDR48 (By similarity). Nucleus Note=Accumulates in nuclear foci at sites of stalled DNA replication forks in response to DNA damage. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q4QY64-1; Sequence=Displayed; Name=2; IsoId=Q4QY64-2; Sequence=VSP_031098, VSP_031099; Expressed ubiquitously in all cell lines like teratocarcinoma, cell lymphoma, lymphoma. Down-regulated by DNA replication-inhibiting agents. ATR may stimulate the RAD9A dissociation. Belongs to the AAA ATPase family. Sequence=AAH38279.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; Sequence=CAI24765.1; Type=Erroneous gene model prediction; Evidence=; Sequence=CAI25200.1; Type=Erroneous gene model prediction; Evidence=; Sequence=CAI26037.1; Type=Erroneous gene model prediction; Evidence=; nucleotide binding immunoglobulin production DNA binding protein binding ATP binding nucleus cellular response to DNA damage stimulus intrinsic apoptotic signaling pathway in response to DNA damage positive regulation of B cell proliferation Elg1 RFC-like complex nuclear DNA replication B cell proliferation signal transduction in response to DNA damage intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator isotype switching positive regulation of DNA replication positive regulation of isotype switching to IgG isotypes nucleic acid phosphodiester bond hydrolysis DNA clamp unloading regulation of mitotic cell cycle phase transition negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage positive regulation of cell cycle G2/M phase transition uc007klg.1 uc007klg.2 uc007klg.3 
ENSMUST00000017732.3 Krt27 ENSMUST00000017732.3 keratin 27 (from RefSeq NM_010666.2) ENSMUST00000017732.1 ENSMUST00000017732.2 K1C27_MOUSE Krt1-c29 Krt27 NM_010666 Q9Z320 c29 uc007lip.1 uc007lip.2 uc007lip.3 uc007lip.4 This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The mouse type I keratin genes are clustered in a region of chromosome 11. The encoded protein is involved in the formation of intermediate filaments in the inner root sheath. [provided by RefSeq, Sep 2015]. ##Evidence-Data-START## Transcript exon combination :: BC140996.1, AK077384.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849383, SAMN00849384 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs). Heterotetramer of two type I and two type II keratins. Interacts with KRT6A to form filaments. Cytoplasm Expressed in skin. Expressed in the Henle layer and cuticle of the irs in hair follicle bulb. In the hair follicle, expression was observed in all layers of the irs but was stronger in the Henle layer and cuticle than the Huxley layer until the Henle layer differentiated (at protein level). There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). Belongs to the intermediate filament family. structural molecule activity cytoplasm intermediate filament hair follicle morphogenesis uc007lip.1 uc007lip.2 uc007lip.3 uc007lip.4 
ENSMUST00000017741.4 Krt12 ENSMUST00000017741.4 keratin 12 (from RefSeq NM_010661.2) ENSMUST00000017741.1 ENSMUST00000017741.2 ENSMUST00000017741.3 Krt12 NM_010661 Z4YJD9 Z4YJD9_MOUSE uc007lis.1 uc007lis.2 uc007lis.3 Belongs to the intermediate filament family. structural molecule activity intermediate filament uc007lis.1 uc007lis.2 uc007lis.3 
ENSMUST00000017743.3 Krt20 ENSMUST00000017743.3 keratin 20 (from RefSeq NM_023256.2) ENSMUST00000017743.1 ENSMUST00000017743.2 K1C20_MOUSE Krt20 NM_023256 Q6PG82 Q9D312 uc007liu.1 uc007liu.2 uc007liu.3 uc007liu.4 uc007liu.5 This gene encodes a member of the keratin protein family and is found within a cluster of cytokeratin genes on chromosome 11. Keratins are cytoskeletal proteins that are preferentially expressed in epithelial cells. The encoded protein may help maintain intermediate filament organization in intestinal epithelium. Phosphorylation of this protein may also influence mucin secretion in the small intestine. [provided by RefSeq, Dec 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK018567.1, BC057172.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849377, SAMN00849378 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays a significant role in maintaining keratin filament organization in intestinal epithelia. When phosphorylated, plays a role in the secretion of mucin in the small intestine. Heterotetramer of two type I and two type II keratins. Associates with KRT8. Expressed at low levels in the more differentiated suprabasal regions of the small intestine, and at higher levels in the colon, mainly in the upper region and in scattered cells throughout the remaining epithelium. Also expressed in epithelial cells of bladder, ileum and stomach and at lower levels in pancreas and earskin. The phosphorylated form is nearly exclusively expressed in goblet cells of the small intestine and in the lumen-proximal cells of the colon (at protein level). Also expressed in jejunum and duodenum. Hyperphosphorylation at Ser-13 occurs during the early stages of apoptosis but becomes less prominent during the later stages (By similarity). Phosphorylation at Ser-13 also increases in response to stress brought on by cell injury. Proteolytically cleaved by caspases during apoptosis. Cleavage occurs at Asp-235 (By similarity). There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa). Belongs to the intermediate filament family. structural molecule activity protein binding cytoplasm cytosol intermediate filament apoptotic process cellular response to starvation intermediate filament organization regulation of protein secretion uc007liu.1 uc007liu.2 uc007liu.3 uc007liu.4 uc007liu.5 
ENSMUST00000017751.3 Tns4 ENSMUST00000017751.3 tensin 4 (from RefSeq NM_172564.3) A2A552 ENSMUST00000017751.1 ENSMUST00000017751.2 NM_172564 Q3TCM8 Q7TNR5 Q8BZ33 TENS4_MOUSE uc007lig.1 uc007lig.2 uc007lig.3 Promotes EGF-induced cell migration by displacing tensin TNS3 from the cytoplasmic tail of integrin ITGB1 which results in dissociation of TNS3 from focal adhesions, disassembly of actin stress fibers and initiation of cell migration. Suppresses ligand-induced degradation of EGFR by reducing EGFR ubiquitination in the presence of EGF. Increases MET protein stability by inhibiting MET endocytosis and subsequent lysosomal degradation which leads to increased cell survival, proliferation and migration. Interacts (via SH2 domain) with Rho GTPase-activating protein DLC1 (via C-terminus); the interaction is independent of DLC1 tyrosine phosphorylation. Interacts with integrin ITGB1; the interaction displaces tensin TNS3 from the ITGB1 cytoplasmic tail and promotes ITGB1 stability. Interacts (via SH2 domain) with E3 ubiquitin-protein ligase CBL (phosphorylated on 'Tyr-780'); the interaction is enhanced in the presence of EGF and reduces interaction of CBL with EGFR. Interacts (via SH2 domain) with receptor tyrosine kinase MET (when phosphorylated); the interaction increases MET protein stability. Cell junction, focal adhesion Cytoplasm, cytoskeleton Belongs to the PTEN phosphatase protein family. molecular_function actin binding cytoplasm cytoskeleton focal adhesion apoptotic process protein localization cell junction uc007lig.1 uc007lig.2 uc007lig.3 
ENSMUST00000017783.13 Rab11fip4 ENSMUST00000017783.13 RAB11 family interacting protein 4 (class II) (from RefSeq NM_175543.3) ENSMUST00000017783.1 ENSMUST00000017783.10 ENSMUST00000017783.11 ENSMUST00000017783.12 ENSMUST00000017783.2 ENSMUST00000017783.3 ENSMUST00000017783.4 ENSMUST00000017783.5 ENSMUST00000017783.6 ENSMUST00000017783.7 ENSMUST00000017783.8 ENSMUST00000017783.9 Kiaa1821 NM_175543 Q80T87 Q8BQP8 RFIP4_MOUSE uc007kku.1 uc007kku.2 uc007kku.3 Acts as a regulator of endocytic traffic by participating in membrane delivery. Required for the abcission step in cytokinesis, possibly by acting as an 'address tag' delivering recycling endosome membranes to the cleavage furrow during late cytokinesis (By similarity). May play a role in differentiation during retinal development, in a Rab11-independent manner. Homodimer. Forms a complex with Rab11 (RAB11A or RAB11B) and ARF6. Interacts with RAB11A; the interaction is direct. Forms a heterooligomeric complex with RAB11FIP2, RAB11FIP3 and RAB11FIP5 (By similarity). Interacts with ECPAS (By similarity). Recycling endosome membrane ; Peripheral membrane protein Cleavage furrow Midbody Cytoplasmic vesicle Note=Recruited to the cleavage furrow and the midbody during cytokinesis. Strongly expressed in the developing retina. Expressed predominantly in neural tissues. The RBD-FIP domain mediates the interaction with Rab11 (RAB11A or RAB11B). neural retina development calcium ion binding endosome cell cycle membrane Rab GTPase binding endocytic vesicle ADP-ribosylation factor binding midbody cytoplasmic vesicle cleavage furrow endocytic recycling regulation of cytokinesis protein homodimerization activity metal ion binding perinuclear region of cytoplasm cell division recycling endosome membrane positive regulation of G1 to G0 transition centrosome uc007kku.1 uc007kku.2 uc007kku.3 
ENSMUST00000017799.12 Cd40 ENSMUST00000017799.12 CD40 antigen, transcript variant 4 (from RefSeq NM_170704.2) ENSMUST00000017799.1 ENSMUST00000017799.10 ENSMUST00000017799.11 ENSMUST00000017799.2 ENSMUST00000017799.3 ENSMUST00000017799.4 ENSMUST00000017799.5 ENSMUST00000017799.6 ENSMUST00000017799.7 ENSMUST00000017799.8 ENSMUST00000017799.9 NM_170704 P27512 Q3TS33 Q3TSL2 Q3U799 Q3U7C9 Q3UBH3 Q542B1 Q8K2X6 Q99NE0 Q99NE1 Q99NE2 Q99NE3 TNR5_MOUSE Tnfrsf5 uc008nwy.1 uc008nwy.2 uc008nwy.3 Receptor for TNFSF5/CD40LG (By similarity). Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion (PubMed:12881420). Monomer and homodimer. Interacts with TRAF1, TRAF2 and TRAF6 (By similarity). Interacts with TRAF3 and TRAF5. Interacts with TRAF6 and MAP3K8; the interaction is required for ERK activation. P27512; P35991: Btk; NbExp=3; IntAct=EBI-525742, EBI-625119; P27512; P39429: Traf2; NbExp=3; IntAct=EBI-525742, EBI-520016; P27512; P70196: Traf6; NbExp=2; IntAct=EBI-525742, EBI-448028; [Isoform I]: Cell membrane; Single-pass type I membrane protein. [Isoform III]: Cell membrane; Single-pass type I membrane protein. [Isoform IV]: Cell membrane; Single-pass type I membrane protein. [Isoform V]: Cell membrane; Single-pass type I membrane protein. [Isoform II]: Secreted. Event=Alternative splicing; Named isoforms=5; Name=I; IsoId=P27512-1; Sequence=Displayed; Name=II; IsoId=P27512-2; Sequence=VSP_006474, VSP_006475; Name=III; IsoId=P27512-3; Sequence=VSP_006477, VSP_006478; Name=IV; IsoId=P27512-4; Sequence=VSP_006479, VSP_006480; Name=V; IsoId=P27512-5; Sequence=VSP_006476; positive regulation of protein phosphorylation immune system process immune response-regulating cell surface receptor signaling pathway antigen binding protein binding extracellular region extracellular space cytoplasm plasma membrane cellular calcium ion homeostasis inflammatory response response to bacterium external side of plasma membrane cell surface membrane integral component of membrane enzyme binding protein domain specific binding positive regulation of B cell proliferation ubiquitin protein ligase binding response to nutrient levels positive regulation of interleukin-12 production response to cobalamin response to interferon-gamma CD40 receptor complex cellular response to erythropoietin signaling receptor activity B cell activation positive regulation of tyrosine phosphorylation of STAT protein defense response to protozoan neuronal cell body positive regulation of I-kappaB kinase/NF-kappaB signaling varicosity intracellular membrane-bounded organelle positive regulation of MAP kinase activity protein kinase B signaling positive regulation of blood vessel endothelial cell migration positive regulation of GTPase activity positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter positive regulation of isotype switching to IgG isotypes regulation of immune response regulation of immunoglobulin secretion positive regulation of NF-kappaB transcription factor activity defense response to virus cellular response to lipopolysaccharide cellular response to mechanical stimulus cellular response to interleukin-1 cellular response to tumor necrosis factor positive regulation of protein kinase C signaling response to peptide positive regulation of endothelial cell apoptotic process uc008nwy.1 uc008nwy.2 uc008nwy.3 
ENSMUST00000017821.12 Wsb1 ENSMUST00000017821.12 WD repeat and SOCS box-containing 1, transcript variant 1 (from RefSeq NM_019653.3) ENSMUST00000017821.1 ENSMUST00000017821.10 ENSMUST00000017821.11 ENSMUST00000017821.2 ENSMUST00000017821.3 ENSMUST00000017821.4 ENSMUST00000017821.5 ENSMUST00000017821.6 ENSMUST00000017821.7 ENSMUST00000017821.8 ENSMUST00000017821.9 NM_019653 Q3TFQ2 Q3TFQ2_MOUSE Wsb1 uc007kki.1 uc007kki.2 uc007kki.3 Protein modification; protein ubiquitination. protein ubiquitination intracellular signal transduction uc007kki.1 uc007kki.2 uc007kki.3 
ENSMUST00000017836.8 Rhbdl3 ENSMUST00000017836.8 rhomboid like 3 (from RefSeq NM_139228.3) ENSMUST00000017836.1 ENSMUST00000017836.2 ENSMUST00000017836.3 ENSMUST00000017836.4 ENSMUST00000017836.5 ENSMUST00000017836.6 ENSMUST00000017836.7 NM_139228 P58873 RHBL3_MOUSE Rhbdl4 Vrho uc007klt.1 uc007klt.2 uc007klt.3 uc007klt.4 May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Reaction=Cleaves type-1 transmembrane domains using a catalytic dyad composed of serine and histidine that are contributed by different transmembrane domains.; EC=3.4.21.105; Membrane ; Multi-pass membrane protein At 8 dpc, expression is limited to the developing central nervous system (CNS). From 9 dpc on detected in the ventral forebrain, pretectum, dorsal diencephalon, metencephalon, the ventral spinal neural tube, in the ectoderm of the developing mandibular arches and the developing hindgut. Belongs to the peptidase S54 family. serine-type endopeptidase activity calcium ion binding proteolysis peptidase activity serine-type peptidase activity membrane integral component of membrane hydrolase activity uc007klt.1 uc007klt.2 uc007klt.3 uc007klt.4 
ENSMUST00000017839.3 Rnf135 ENSMUST00000017839.3 ring finger protein 135, transcript variant 2 (from RefSeq NR_157298.1) ENSMUST00000017839.1 ENSMUST00000017839.2 NR_157298 Q3UBK5 Q8R161 Q9CWS1 Q9DCH3 RN135_MOUSE Rnf135 uc007kln.1 uc007kln.2 uc007kln.3 E2-dependent E3 ubiquitin-protein ligase that functions as a RIGI coreceptor in the sensing of viral RNAs in cell cytoplasm and the activation of the antiviral innate immune response (PubMed:21147464, PubMed:23950712, PubMed:28469175, PubMed:31006531). Together with the UBE2D3, UBE2N and UB2V1 E2 ligases, catalyzes the 'Lys-63'-linked polyubiquitination of RIGI oligomerized on viral RNAs, an essential step in the activation of the RIG-I signaling pathway (PubMed:21147464, PubMed:28469175, PubMed:31006531). Through a ubiquitin-independent parallel mechanism, which consists in bridging RIGI filaments forming on longer viral RNAs, further activates the RIG-I signaling pathway (PubMed:31006531). This second mechanism that synergizes with the ubiquitin-dependent one would thereby allow an RNA length-dependent regulation of the RIG-I signaling pathway (PubMed:31006531). Associated with the E2 ligase UBE2N, also constitutively synthesizes unanchored 'Lys-63'-linked polyubiquitin chains that may also activate the RIG-I signaling pathway (By similarity). It is not involved in the innate immune response against DNA viruses (PubMed:21147464). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Protein modification; protein ubiquitination. Homodimer. Interacts (homodimer) with RIGI (double-stranded RNA-bound oligomeric form); involved in both RIGI ubiquitination, oligomerization into filaments associated with viral RNAs and the bridging of these filaments. Interacts with UBE2D3 and UBE2N; E2 ubiquitin ligases involved in RNF135-mediated ubiquitination of RIGI and activation of the RIG-I signaling pathway. Interacts with PCBP2. Cytoplasm Cytoplasm, Stress granule Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CWS1-1; Sequence=Displayed; Name=2; IsoId=Q9CWS1-2; Sequence=VSP_023787; Ubiquitously expressed. The B30.2/SPRY domain mediates the interaction with the substrate RIGI. The coiled-coil domains mediate homodimerization and the bridging of viral RNA-associated RIGI filaments. Mice lacking Rnf135 develop and breed normally (PubMed:21147464). They are susceptible to RNA viruses infection (PubMed:21147464). immune system process ubiquitin-protein transferase activity protein binding cytoplasm protein ubiquitination transferase activity positive regulation of interferon-beta production identical protein binding ribonucleoprotein complex binding innate immune response regulation of innate immune response metal ion binding uc007kln.1 uc007kln.2 uc007kln.3 
ENSMUST00000017841.4 Ada ENSMUST00000017841.4 adenosine deaminase, transcript variant 5 (from RefSeq NR_184399.1) Ada ENSMUST00000017841.1 ENSMUST00000017841.2 ENSMUST00000017841.3 NR_184399 Q4FK28 Q4FK28_MOUSE uc008ntl.1 uc008ntl.2 uc008ntl.3 uc008ntl.4 Reaction=2'-deoxyadenosine + H(+) + H2O = 2'-deoxyinosine + NH4(+); Xref=Rhea:RHEA:28190, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17256, ChEBI:CHEBI:28938, ChEBI:CHEBI:28997; EC=3.5.4.4; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:28191; Evidence=; Reaction=adenosine + H(+) + H2O = inosine + NH4(+); Xref=Rhea:RHEA:24408, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16335, ChEBI:CHEBI:17596, ChEBI:CHEBI:28938; EC=3.5.4.4; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:24409; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Cell junction Cell membrane ; Peripheral membrane protein ; Extracellular side Cytoplasmic vesicle lumen Belongs to the metallo-dependent hydrolases superfamily. Adenosine and AMP deaminases family. response to hypoxia histamine secretion purine nucleoside binding adenosine deaminase activity extracellular space cytoplasm lysosome cytosol plasma membrane adenosine catabolic process aging zinc ion binding purine ribonucleoside monophosphate biosynthetic process external side of plasma membrane cell surface membrane deaminase activity purine nucleotide salvage dendrite cytoplasm response to vitamin E regulation of cell-cell adhesion mediated by integrin T cell activation negative regulation of circadian sleep/wake cycle, non-REM sleep response to drug response to hydrogen peroxide neuronal cell body response to morphine regulation of circadian sleep/wake cycle, sleep adenosine metabolic process inosine biosynthetic process negative regulation of adenosine receptor signaling pathway uc008ntl.1 uc008ntl.2 uc008ntl.3 uc008ntl.4 
ENSMUST00000017851.4 Serinc3 ENSMUST00000017851.4 serine incorporator 3, transcript variant 18 (from RefSeq NR_178197.1) Aigp1 Diff33 ENSMUST00000017851.1 ENSMUST00000017851.2 ENSMUST00000017851.3 NR_178197 Q3U7C6 Q62310 Q8BSP9 Q8CFD3 Q91VN9 Q9QZI9 SERC3_MOUSE Tde1 Tms1 uc008ntg.1 uc008ntg.2 uc008ntg.3 uc008ntg.4 Restriction factor required to restrict infectivity of gammaretroviruses: acts by inhibiting early step of viral infection and impairing the ability of the viral particle to translocate its content to the cytoplasm. Cell membrane ; Multi-pass membrane protein Golgi apparatus membrane ; Multi-pass membrane protein Note=Localizes to the cell membrane, where it is efficiently incorporated into budding gammaretrovirus virions and impairs subsequent virion penetration of susceptible target cells (By similarity). Highly expressed in the neuronal populations such as Purkinje cells in the cerebellum, brainstem and spinal motor neurons, locus coeruleus and raphe nuclei. Highly expressed also in thymus, kidney liver and testis. N-glycosylated. Belongs to the TDE1 family. Sequence=AAA74236.1; Type=Erroneous initiation; Evidence=; Golgi membrane immune system process Golgi apparatus plasma membrane phosphatidylserine metabolic process sphingolipid metabolic process detection of virus membrane integral component of membrane innate immune response defense response to virus positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway uc008ntg.1 uc008ntg.2 uc008ntg.3 uc008ntg.4 
ENSMUST00000017864.3 Trp53tg5 ENSMUST00000017864.3 transformation related protein 53 target 5 (from RefSeq NM_001271575.1) ENSMUST00000017864.1 ENSMUST00000017864.2 NM_001271575 Q9D976 Q9D976_MOUSE Trp53tg5 uc008nuv.1 uc008nuv.2 uc008nuv.3 molecular_function biological_process uc008nuv.1 uc008nuv.2 uc008nuv.3 
ENSMUST00000017881.3 Mmp9 ENSMUST00000017881.3 matrix metallopeptidase 9 (from RefSeq NM_013599.5) Clg4b ENSMUST00000017881.1 ENSMUST00000017881.2 MMP9_MOUSE NM_013599 P41245 Q06788 Q80XI8 Q9DC02 uc008nwt.1 uc008nwt.2 uc008nwt.3 uc008nwt.4 This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme that degrades collagens of type IV, V and XI, and elastin. Mice lacking the encoded protein exhibit an abnormal pattern of skeletal growth plate vascularization and ossification, reduced keratinocyte hyperproliferation at all neoplastic stages, a decreased incidence of invasive tumors, and resistance to experimental autoimmune encephalomyelitis. [provided by RefSeq, Feb 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: Z27231.1, BC046991.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Matrix metalloproteinase that plays an essential role in local proteolysis of the extracellular matrix and in leukocyte migration (By similarity). Could play a role in bone osteoclastic resorption (PubMed:8132709). Cleaves KiSS1 at a Gly-|-Leu bond (By similarity). Cleaves NINJ1 to generate the Secreted ninjurin-1 form (PubMed:23142597, PubMed:32883094). Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments. Degrades fibronectin but not laminin or Pz- peptide (By similarity). Reaction=Cleavage of gelatin types I and V and collagen types IV and V.; EC=3.4.24.35; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) ions per subunit. ; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Note=Binds 3 Ca(2+) ions per subunit. ; Inhibited by histatin-3 1/24 (histatin-5). Inhibited by ECM1. Exists as monomer or homodimer; disulfide-linked. Exists also as heterodimer with LCN2. Macrophages and transformed cell lines produce only the monomeric form. Interacts with ECM1. Secreted, extracellular space, extracellular matrix Up-regulated by ARHGEF4, SPATA13 and APC via the JNK signaling pathway in colorectal tumor cells. (Microbial infection) Induced in macrophages as well as in whole animals (spleen, lung and liver) by incubation or infection with M.bovis BCG and M.tuberculosis H37Rv (at protein level) (PubMed:11500442). The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation- peptide release activates the enzyme. N- and O-glycosylated. Belongs to the peptidase M10A family. skeletal system development positive regulation of protein phosphorylation fibronectin binding positive regulation of leukocyte migration endopeptidase activity metalloendopeptidase activity serine-type endopeptidase activity extracellular region extracellular space proteolysis response to oxidative stress heart development embryo implantation aging peptidase activity metallopeptidase activity zinc ion binding hydrolase activity transformation of host cell by virus extracellular matrix organization positive regulation of cell migration collagen catabolic process extracellular matrix positive regulation of synaptic plasticity macromolecular complex cellular response to reactive oxygen species endodermal cell differentiation response to drug identical protein binding positive regulation of apoptotic process negative regulation of apoptotic process positive regulation of DNA binding macromolecular complex binding positive regulation of epidermal growth factor receptor signaling pathway positive regulation of angiogenesis metal ion binding negative regulation of fibroblast proliferation tissue remodeling protein oligomerization positive regulation of keratinocyte migration cellular response to cadmium ion cellular response to cell-matrix adhesion positive regulation of release of cytochrome c from mitochondria positive regulation of receptor binding response to beta-amyloid positive regulation of vascular smooth muscle cell proliferation negative regulation of epithelial cell differentiation involved in kidney development negative regulation of intrinsic apoptotic signaling pathway negative regulation of cation channel activity negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway uc008nwt.1 uc008nwt.2 uc008nwt.3 uc008nwt.4 
ENSMUST00000017891.14 Ghdc ENSMUST00000017891.14 GH3 domain containing, transcript variant 4 (from RefSeq NR_184713.1) A2A5D7 D11lgp1e ENSMUST00000017891.1 ENSMUST00000017891.10 ENSMUST00000017891.11 ENSMUST00000017891.12 ENSMUST00000017891.13 ENSMUST00000017891.2 ENSMUST00000017891.3 ENSMUST00000017891.4 ENSMUST00000017891.5 ENSMUST00000017891.6 ENSMUST00000017891.7 ENSMUST00000017891.8 ENSMUST00000017891.9 GHDC_MOUSE Lgp1 NR_184713 Q99J23 Q99J92 uc007lmh.1 uc007lmh.2 uc007lmh.3 Endoplasmic reticulum Nucleus envelope Highly expressed in mammary tissues from mature virgins and at day 13 of pregnancy, and at lower level during lactation. Expressed at intermediate level in liver. Expressed at lower level in kidney, heart and brain. Belongs to the GH3 family. nucleus nuclear envelope cytoplasm endoplasmic reticulum acid-amino acid ligase activity uc007lmh.1 uc007lmh.2 uc007lmh.3 
ENSMUST00000017900.9 Slc12a7 ENSMUST00000017900.9 solute carrier family 12, member 7, transcript variant 1 (from RefSeq NM_011390.2) ENSMUST00000017900.1 ENSMUST00000017900.2 ENSMUST00000017900.3 ENSMUST00000017900.4 ENSMUST00000017900.5 ENSMUST00000017900.6 ENSMUST00000017900.7 ENSMUST00000017900.8 Kcc4 NM_011390 Q3TB23 Q3TDX1 Q3UE50 Q6KAS8 Q9WVL3 S12A7_MOUSE uc007red.1 uc007red.2 uc007red.3 uc007red.4 Mediates electroneutral potassium-chloride cotransport when activated by cell swelling (PubMed:11551954, PubMed:12106695). May mediate K(+) uptake into Deiters' cells in the cochlea and contribute to K(+) recycling in the inner ear. Important for the survival of cochlear outer and inner hair cells and the maintenance of the organ of Corti (PubMed:11976689). May be required for basolateral Cl(-) extrusion in the kidney and contribute to renal acidification (Probable). Reaction=chloride(in) + K(+)(in) = chloride(out) + K(+)(out); Xref=Rhea:RHEA:72427, ChEBI:CHEBI:17996, ChEBI:CHEBI:29103; Evidence=; Activated by N-ethylmaleimide (NEM). Inhibited by furosemide, DIDS and bumetanide. The inhibition is much stronger in the presence of 50 mM K(+) in the uptake medium. Inhibited by DIOA. Inhibited by WNK3. Homomultimer and heteromultimer with other K-Cl cotransporters. Cell membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9WVL3-1; Sequence=Displayed; Name=2; IsoId=Q9WVL3-2; Sequence=VSP_027770; Detected in proximal tubules in the kidney, in particular in basolateral membranes of intercalated cells in the cortical collecting duct. In 8 day old mice, before the onset of hearing, detected in membranes of the stria vascularis and in most cells of the organ of Corti. At P14, when the organ of Corti has matured, expression is no longer detected in hair cells and the stria, but is restricted to Deiters' cells that are supporting outer hair cells and to phalangeal cells enveloping the inner hair cells. Glycosylation at Asn-331 and Asn-344 is required for proper trafficking to the cell surface, and augments protein stability. Note=Defects in Slc12a7 are a cause of deafness due to the progressive degeneration of outer and inner hair cells in the cochlea and of neurons in the cochlear ganglion, leading to the loss of the organ of Corti. Belongs to the SLC12A transporter family. Sequence=BAD21379.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=BAE42491.1; Type=Frameshift; Evidence=; plasma membrane integral component of plasma membrane ion transport potassium ion transport cell volume homeostasis chemical synaptic transmission symporter activity cation:chloride symporter activity potassium:chloride symporter activity membrane integral component of membrane protein kinase binding transmembrane transporter activity macromolecular complex chloride ion homeostasis potassium ion homeostasis transmembrane transport chloride transmembrane transport potassium ion import across plasma membrane uc007red.1 uc007red.2 uc007red.3 uc007red.4 
ENSMUST00000017908.3 Zswim1 ENSMUST00000017908.3 zinc finger SWIM-type containing 1 (from RefSeq NM_028028.3) A2A5J3 ENSMUST00000017908.1 ENSMUST00000017908.2 NM_028028 Q8R163 Q9CWV7 ZSWM1_MOUSE uc008nwi.1 uc008nwi.2 uc008nwi.3 Sequence=AAH25184.1; Type=Erroneous initiation; Evidence=; molecular_function nucleus biological_process zinc ion binding metal ion binding uc008nwi.1 uc008nwi.2 uc008nwi.3 
ENSMUST00000017911.4 Spata25 ENSMUST00000017911.4 spermatogenesis associated 25 (from RefSeq NM_029370.1) A2A5J4 ENSMUST00000017911.1 ENSMUST00000017911.2 ENSMUST00000017911.3 NM_029370 Q14B41 Q9DA57 SPT25_MOUSE Tsg23 uc008nwj.1 uc008nwj.2 uc008nwj.3 uc008nwj.4 May play a role in spermatogenesis. Membrane ; Single-pass membrane protein Expressed strongly in testis, weakly in epididymis and not detected in other tissues. Expression is detected at day 15 after birth and gradually increases from day 15 to 5 months. Expression is found in round spermatids with little expression in spermatogonia. Belongs to the SPATA25 family. molecular_function cellular_component spermatogenesis membrane integral component of membrane cell differentiation uc008nwj.1 uc008nwj.2 uc008nwj.3 uc008nwj.4 
ENSMUST00000017920.14 Crk ENSMUST00000017920.14 v-crk avian sarcoma virus CT10 oncogene homolog, transcript variant 2 (from RefSeq NM_133656.5) CRK_MOUSE Crko ENSMUST00000017920.1 ENSMUST00000017920.10 ENSMUST00000017920.11 ENSMUST00000017920.12 ENSMUST00000017920.13 ENSMUST00000017920.2 ENSMUST00000017920.3 ENSMUST00000017920.4 ENSMUST00000017920.5 ENSMUST00000017920.6 ENSMUST00000017920.7 ENSMUST00000017920.8 ENSMUST00000017920.9 NM_133656 Q64010 uc007ker.1 uc007ker.2 uc007ker.3 uc007ker.4 This gene is part of a family of adapter proteins that mediate formation of signal transduction complexes in response to extracellular stimuli, such as growth and differentiation factors. Protein-protein interactions occur through the SH2 domain, which binds phosphorylated tyrosine residues, and the SH3 domain, which binds proline-rich peptide motifs. These interactions promote recruitment and activation of effector proteins to regulate cell migration, adhesion, and proliferation. In mouse this protein is essential for embryonic development. Alternatively spliced transcripts encoding different isoforms with distinct biological activity have been described. [provided by RefSeq, Mar 2013]. Involved in cell branching and adhesion mediated by BCAR1- CRK-RAPGEF1 signaling and activation of RAP1. Isoform CRK-II: Regulates cell adhesion, spreading and migration. Mediates attachment-induced MAPK8 activation, membrane ruffling and cell motility in a Rac-dependent manner. Involved in phagocytosis of apoptotic cells and cell motility via its interaction with DOCK1 and DOCK4 (By similarity). May regulate the EFNA5-EPHA3 signaling (PubMed:11870224). Component of a complex comprised of SH2D3C, BCAR1/CAS, and CRK (By similarity). Within the complex, interacts with SH2D3C (via C- terminus), and BCAR1/CAS (By similarity). Found in a complex with ABL1, ABL2, CRK and UNC119; leading to the inhibition of CRK phosphorylation by ABL kinases (By similarity). Interacts with ABL1, C3G, DOCK3, DOCK5, MAP4K1, MAPK8 and SOS via its first SH3 domain. Interacts (via SH2 domain) with BCAR1, CBL, CBLB, PXN, IRS4 and GAB1 upon stimulus-induced tyrosine phosphorylation. Interacts (via SH2 domain) with several tyrosine-phosphorylated growth factor receptors such as EGFR and INSR. Interacts with FLT1 (tyrosine-phosphorylated). Interacts with DOCK1 and DOCK4. Interacts with SHB. Interacts with PEAK1. Interacts with FASLG. Interacts with FLT4 (tyrosine-phosphorylated). Part of a collagen stimulated complex involved in cell migration composed of CDC42, CRK, TNK2 and p130cas/BCAR1. Interacts (via SH2 domain) with the 'Tyr-9' phosphorylated form of PDPK1. Interacts with CBLC (By similarity). [Isoform Crk-II]: Interacts (via SH2 domain) with PDGFRA (tyrosine phosphorylated) and PDGFRB (tyrosine phosphorylated) (By similarity). Interacts with EPHA3 (phosphorylated); upon activation of EPHA3 by the ligand EFNA5 and EPHA3 tyrosine kinase activity-dependent and mediates EFNA5-EPHA3 signaling through RHOA GTPase activation (PubMed:11870224). Interacts with KIT (PubMed:12878163). Interacts with PEAK3; the interaction requires PEAK3 homodimerization (By similarity). Q64010; P08069: IGF1R; Xeno; NbExp=3; IntAct=EBI-2906540, EBI-475981; Cytoplasm Cell membrane Note=Translocated to the plasma membrane upon cell adhesion. Event=Alternative splicing; Named isoforms=2; Name=Crk-II; IsoId=Q64010-1; Sequence=Displayed; Name=Crk-I; IsoId=Q64010-2; Sequence=VSP_004174; Ubiquitous. The C-terminal SH3 domain function as a negative modulator for transformation and the N-terminal SH3 domain appears to function as a positive regulator for transformation. The SH2 domain mediates interaction with tyrosine phosphorylated proteins. Mediates interaction with SHB. Phosphorylated on Tyr-221 upon cell adhesion. Results in the negative regulation of the association with SH2- and SH3-binding partners, possibly by the formation of an intramolecular interaction of phosphorylated Tyr-221 with the SH2 domain. This leads finally to the down-regulation of the Crk signaling pathway (PubMed:8194526, PubMed:12878163). Isoform Crk-II: Phosphorylated by KIT (By similarity). Proline isomerization at Pro-237 by PPIA acts as a switch between two conformations: an autoinhibitory conformation in the cis form, where the tandem SH3 domains interact intramolecularly, and an activated conformation in the trans form. Belongs to the CRK family. neuron migration phosphotyrosine binding response to yeast regulation of leukocyte migration SH3/SH2 adaptor activity insulin-like growth factor receptor binding protein binding cytoplasm plasma membrane lipid metabolic process cytoskeletal protein binding regulation of cell shape regulation of signal transduction positive regulation of signal transduction positive regulation of smooth muscle cell migration actin cytoskeleton membrane dendrite development SH3 domain binding enzyme binding protein domain specific binding hippocampus development cerebral cortex development establishment of cell polarity positive regulation of cell growth protein binding, bridging regulation of actin cytoskeleton organization macromolecular complex regulation of cell adhesion mediated by integrin regulation of Rac protein signal transduction helper T cell diapedesis response to hepatocyte growth factor reelin-mediated signaling pathway SH2 domain binding response to hydrogen peroxide regulation of GTPase activity regulation of protein binding protein self-association membrane raft protein phosphorylated amino acid binding negative regulation of natural killer cell mediated cytotoxicity ephrin receptor binding ephrin receptor signaling pathway regulation of dendrite development cell chemotaxis negative regulation of wound healing cellular response to transforming growth factor beta stimulus cellular response to nitric oxide activation of GTPase activity scaffold protein binding cerebellar neuron development positive regulation of substrate adhesion-dependent cell spreading response to peptide cellular response to nerve growth factor stimulus cellular response to insulin-like growth factor stimulus protein tyrosine kinase binding cellular response to endothelin negative regulation of cell motility regulation of T cell migration uc007ker.1 uc007ker.2 uc007ker.3 uc007ker.4 
ENSMUST00000017946.6 Retreg3 ENSMUST00000017946.6 reticulophagy regulator family member 3, transcript variant 1 (from RefSeq NM_026501.3) ENSMUST00000017946.1 ENSMUST00000017946.2 ENSMUST00000017946.3 ENSMUST00000017946.4 ENSMUST00000017946.5 Fam134c NM_026501 Q3TQL8 Q3U9Q7 Q8BQC4 Q922X3 Q9CQV4 RETR3_MOUSE uc007lni.1 uc007lni.2 uc007lni.3 Endoplasmic reticulum (ER)-anchored autophagy regulator which exists in an inactive state under basal conditions but is activated following cellular stress (PubMed:34338405). When activated, induces ER fragmentation and mediates ER delivery into lysosomes through sequestration into autophagosomes via interaction with ATG8 family proteins (PubMed:34338405). Promotes ER membrane curvature and ER tubulation required for subsequent ER fragmentation and engulfment into autophagosomes (By similarity). Required for collagen quality control in a LIR motif-dependent manner (PubMed:34338405). Mediates NRF1- enhanced neurite outgrowth (By similarity). Interacts with ATG8 family modifier proteins MAP1LC3A, MAP1LC3B, GABARAPL1 and GABARAPL2 (PubMed:34338405). Also interacts with ATG8 family modifier protein GABARAP (By similarity). Interacts with CANX (By similarity). Interacts with RTN4 isoform B (By similarity). Endoplasmic reticulum membrane ; Multi-pass membrane protein Note=Localizes preferentially to endoplasmic reticulum tubules and sheet edges. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CQV4-1; Sequence=Displayed; Name=2; IsoId=Q9CQV4-2; Sequence=VSP_025689; Widely expressed with highest levels in brain, lung, liver, muscle and spleen (protein level) (PubMed:34338405). Mainly expressed in the central nervous system and in parenchymatous organs including liver, lung and kidney. The LIR motif interacts with ATG8 family proteins. Belongs to the RETREG family. molecular_function positive regulation of neuron projection development membrane integral component of membrane macromolecular complex uc007lni.1 uc007lni.2 uc007lni.3 
ENSMUST00000017974.13 Dhx58 ENSMUST00000017974.13 DExH-box helicase 58 (from RefSeq NM_030150.2) A2A5E9 D11lgp2e DHX58_MOUSE Dhx58 ENSMUST00000017974.1 ENSMUST00000017974.10 ENSMUST00000017974.11 ENSMUST00000017974.12 ENSMUST00000017974.2 ENSMUST00000017974.3 ENSMUST00000017974.4 ENSMUST00000017974.5 ENSMUST00000017974.6 ENSMUST00000017974.7 ENSMUST00000017974.8 ENSMUST00000017974.9 Lgp2 NM_030150 Q99J87 Q9D1X4 uc007llx.1 uc007llx.2 Acts as a regulator of RIGI and IFIH1/MDA5 mediated antiviral signaling. Cannot initiate antiviral signaling as it lacks the CARD domain required for activating MAVS/IPS1-dependent signaling events. Can have both negative and positive regulatory functions related to RIGI and IFIH1/MDA5 signaling and this role in regulating signaling may be complex and could probably depend on characteristics of the infecting virus or target cells, or both. Its inhibitory action on RIG- I signaling may involve the following mechanisms: competition with RIGI for binding to the viral RNA, binding to RIGI and inhibiting its dimerization and interaction with MAVS/IPS1, competing with IKBKE in its binding to MAVS/IPS1 thereby inhibiting activation of interferon regulatory factor 3 (IRF3). Its positive regulatory role may involve unwinding or stripping nucleoproteins of viral RNA thereby facilitating their recognition by RIGI and IFIH1/MDA5. Involved in the innate immune response to various RNA viruses and some DNA viruses such as poxviruses, and also to the bacterial pathogen Listeria monocytogenes. Can bind both ssRNA and dsRNA, with a higher affinity for dsRNA. Shows a preference to 5'-triphosphorylated RNA, although it can recognize RNA lacking a 5'-triphosphate. Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:13066; Evidence=; Monomer in the absence of dsRNA. Homodimer in the presence of dsRNA. Interacts with RIGI (via CARD domain), MAVS/IPS1 and DDX60. Found in a complex with RIGI and IFIH1/MDA5. Interacts with ANKRD17. Directly interacts with ATG5 and ATG12, either as ATG5 and ATG12 monomers or as ATG12-ATG5 conjugates (By similarity). Cytoplasm Highly expressed in mammary tissues. Expressed in liver and testis. Expressed at lower level in spleen, embryo, mammary gland and breast tumors. By interferon (IFN), virus infection, or intracellular dsRNA. The RLR CTR domain is capable of inhibiting dimerization and signaling of RIGI and also facilitates binding of dsRNA. Embryonic lethality at a high frequency. Adult female that survive show an enlarged uterus filled with fluid resulting from vaginal atresia. Belongs to the helicase family. RLR subfamily. nucleotide binding immune system process DNA binding RNA binding RNA helicase activity double-stranded RNA binding single-stranded RNA binding helicase activity ATP binding cytoplasm zinc ion binding response to virus response to bacterium hydrolase activity negative regulation of type I interferon production positive regulation of type I interferon production negative regulation of MDA-5 signaling pathway negative regulation of RIG-I signaling pathway innate immune response regulation of innate immune response negative regulation of innate immune response metal ion binding defense response to virus positive regulation of MDA-5 signaling pathway positive regulation of RIG-I signaling pathway uc007llx.1 uc007llx.2 
ENSMUST00000017975.7 Rab5a ENSMUST00000017975.7 RAB5A, member RAS oncogene family (from RefSeq NM_025887.4) ENSMUST00000017975.1 ENSMUST00000017975.2 ENSMUST00000017975.3 ENSMUST00000017975.4 ENSMUST00000017975.5 ENSMUST00000017975.6 NM_025887 Q3UCX7 Q4VAA1 Q9CQD1 Q9DCN5 RAB5A_MOUSE nnyRab5a uc008czn.1 uc008czn.2 uc008czn.3 Small GTPase which cycles between active GTP-bound and inactive GDP-bound states. In its active state, binds to a variety of effector proteins to regulate cellular responses such as of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Active GTP-bound form is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. RAB5A is required for the fusion of plasma membranes and early endosomes. Contributes to the regulation of filopodia extension. Required for the exosomal release of SDCBP, CD63, PDCD6IP and syndecan (By similarity). Regulates maturation of apoptotic cell-containing phagosomes, probably downstream of DYN2 and PIK3C3 (PubMed:18425118). Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.2; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19670; Evidence=; Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP. Interacts with GDI1; this promotes dissociation from membranes; phosphorylation at Ser-84 disrupts this interaction (By similarity). Interacts with GDI2; phosphorylation at Ser-84 disrupts the interaction (By similarity). Interacts with EEA1. Interacts with RIN1 and GAPVD1, which regulate its pathway, probably by acting as a GEF. Interacts with RINL. Interacts with ALS2CL, SUN2, ZFYVE20 and RUFY1. Interacts with RABEP1; one RABEP1 homodimer binds two RAB5A chains, but at opposite sides of the dimer (By similarity). Interacts with SGSM1 and SGSM3 (PubMed:17509819). Interacts with PIK3CB (PubMed:21059846). Interacts with OCRL and INPP5F (PubMed:25869668). May be a component of a complex composed of RAB5A, DYN2 and PIK3C3 (PubMed:18425118). Does not interact with BLOC-3 complex (heterodimer of HPS1 and HPS4). Interacts with CLN5 (By similarity). Interacts with APPL2 (PubMed:25568335). Interacts with F8A1/F8A2/F8A3 (By similarity). Found in a complex with F8A1/F8A2/F8A3, HTT and RAB5A; mediates the recruitment of HTT by RAB5A onto early endosomes (By similarity). Interacts with ATP9A (By similarity). Cell membrane ; Lipid-anchor ; Cytoplasmic side Early endosome membrane ; Lipid-anchor Melanosome Cytoplasmic vesicle Cell projection, ruffle Membrane Cytoplasm, cytosol Cytoplasmic vesicle, phagosome membrane Endosome membrane Note=Enriched in stage I melanosomes. Alternates between membrane-bound and cytosolic forms. Phosphorylation of Ser-84 in the switch II region by LRRK2 prevents the association of RAB regulatory proteins, including RAB GDP dissociation inhibitors GDI1 and GDI2. Belongs to the small GTPase superfamily. Rab family. nucleotide binding ruffle GTPase activity protein binding GTP binding cytoplasm endosome early endosome cytosol plasma membrane intracellular protein transport endocytosis phagocytosis endosome organization synaptic vesicle endosome membrane positive regulation of smooth muscle cell migration protein transport actin cytoskeleton membrane guanyl nucleotide binding GDP binding endocytic vesicle axon dendrite phagocytic vesicle membrane cytoplasmic vesicle early endosome membrane early phagosome Rab protein signal transduction macromolecular complex synaptic vesicle recycling somatodendritic compartment viral RNA genome replication melanosome zymogen granule membrane cell projection neuron projection neuronal cell body terminal bouton axon terminus early endosome to late endosome transport membrane raft phagocytic vesicle positive regulation of exocytosis regulation of long-term neuronal synaptic plasticity perinuclear region of cytoplasm positive regulation of smooth muscle cell proliferation GDP-dissociation inhibitor binding regulation of endosome size regulation of filopodium assembly recycling endosome cytoplasmic side of early endosome membrane postsynaptic early endosome anchored component of synaptic vesicle membrane receptor internalization involved in canonical Wnt signaling pathway regulation of synaptic vesicle exocytosis uc008czn.1 uc008czn.2 uc008czn.3 
ENSMUST00000017976.3 Hspb9 ENSMUST00000017976.3 heat shock protein, alpha-crystallin-related, B9 (from RefSeq NM_029307.2) A2A5F2 ENSMUST00000017976.1 ENSMUST00000017976.2 HSPB9_MOUSE NM_029307 Q9DAM3 uc288cfl.1 uc288cfl.2 Cytoplasm Nucleus Note=Translocates to nuclear foci during heat shock. Testis specific. Expressed notably in the spermatogenic cells from late pachytene spermatocyte stage till elongate spermatid stage. Belongs to the small heat shock protein (HSP20) family. molecular_function nucleus cytoplasm biological_process uc288cfl.1 uc288cfl.2 
ENSMUST00000018002.13 Ift52 ENSMUST00000018002.13 intraflagellar transport 52, transcript variant 2 (from RefSeq NM_172150.5) ENSMUST00000018002.1 ENSMUST00000018002.10 ENSMUST00000018002.11 ENSMUST00000018002.12 ENSMUST00000018002.2 ENSMUST00000018002.3 ENSMUST00000018002.4 ENSMUST00000018002.5 ENSMUST00000018002.6 ENSMUST00000018002.7 ENSMUST00000018002.8 ENSMUST00000018002.9 IFT52_MOUSE NM_172150 Ngd5 Q3TK21 Q62559 Q8BTX3 Q8CI16 uc008nsj.1 uc008nsj.2 uc008nsj.3 Involved in ciliogenesis as part of a complex involved in intraflagellar transport (IFT), the bi-directional movement of particles required for the assembly, maintenance and functioning of primary cilia (PubMed:19253336). Required for the anterograde transport of IFT88 (By similarity). Component of the IFT complex B, at least composed of IFT20, IFT22, IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88 (PubMed:19253336). Interacts with IFT88 (PubMed:19253336). Interacts with TTC25 (PubMed:25860617). Interacts with TTC21A (By similarity). Interacts with IFT70A1, IFT70A2, IFT70B and KIF17 (PubMed:23810713). Interacts with USH1G (By similarity). Q62559; Q8N4P2: IFT70B; Xeno; NbExp=2; IntAct=EBI-6959048, EBI-6958994; Cell projection, cilium After opioid treatment, expression decreases. Sequence=AAA96241.1; Type=Frameshift; Evidence=; neural tube formation heart looping protein binding centrosome centriole cilium smoothened signaling pathway determination of left/right symmetry dorsal/ventral pattern formation cell projection organization intraciliary transport particle B photoreceptor connecting cilium intraciliary anterograde transport ciliary basal body intraciliary transport embryonic digit morphogenesis cell projection dendrite terminus negative regulation of epithelial cell proliferation cilium assembly regulation of protein processing ciliary tip ciliary base photoreceptor cell cilium non-motile cilium assembly uc008nsj.1 uc008nsj.2 uc008nsj.3 
ENSMUST00000018005.10 Mybl2 ENSMUST00000018005.10 myeloblastosis oncogene-like 2 (from RefSeq NM_008652.2) Bmyb ENSMUST00000018005.1 ENSMUST00000018005.2 ENSMUST00000018005.3 ENSMUST00000018005.4 ENSMUST00000018005.5 ENSMUST00000018005.6 ENSMUST00000018005.7 ENSMUST00000018005.8 ENSMUST00000018005.9 MYBB_MOUSE NM_008652 P48972 uc008nsl.1 uc008nsl.2 uc008nsl.3 Transcription factor involved in the regulation of cell survival, proliferation, and differentiation. Transactivates the expression of the CLU gene (By similarity). Component of the DREAM complex (also named LINC complex) at least composed of E2F4, E2F5, LIN9, LIN37, LIN52, LIN54, MYBL1, MYBL2, RBL1, RBL2, RBBP4, TFDP1 and TFDP2. The complex exists in quiescent cells where it represses cell cycle-dependent genes. It dissociates in S phase when LIN9, LIN37, LIN52 and LIN54 form a subcomplex that binds to MYBL2 (By similarity). Interacts with CCNF (via the Cyclin N- terminal domain) (By similarity). Nucleus. Phosphorylated by cyclin A/CDK2 during S-phase. Phosphorylation at Thr-524 is probably involved in transcriptional activity (By similarity). mitotic cell cycle RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding nucleus nucleoplasm Myb complex positive regulation of neuron apoptotic process positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter mitotic spindle assembly cellular response to leukemia inhibitory factor uc008nsl.1 uc008nsl.2 uc008nsl.3 
ENSMUST00000018012.14 Sgk2 ENSMUST00000018012.14 serum/glucocorticoid regulated kinase 2, transcript variant 1 (from RefSeq NM_013731.3) B7ZC31 ENSMUST00000018012.1 ENSMUST00000018012.10 ENSMUST00000018012.11 ENSMUST00000018012.12 ENSMUST00000018012.13 ENSMUST00000018012.2 ENSMUST00000018012.3 ENSMUST00000018012.4 ENSMUST00000018012.5 ENSMUST00000018012.6 ENSMUST00000018012.7 ENSMUST00000018012.8 ENSMUST00000018012.9 NM_013731 Q8R0P6 Q9QZS5 SGK2_MOUSE uc008nsg.1 uc008nsg.2 uc008nsg.3 uc008nsg.4 uc008nsg.5 Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cell growth, survival and proliferation. Up-regulates Na(+) channels: SCNN1A/ENAC, K(+) channels: KCNA3/Kv1.3, KCNE1 and KCNQ1, amino acid transporter: SLC6A19, glutamate transporter: SLC1A6/EAAT4, glutamate receptors: GRIA1/GLUR1 and GRIK2/GLUR6, Na(+)/H(+) exchanger: SLC9A3/NHE3, and the Na(+)/K(+) ATPase. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Two specific sites, one in the kinase domain (Thr- 193) and the other in the C-terminal regulatory region (Ser-356), need to be phosphorylated for its full activation. Cytoplasm Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9QZS5-1; Sequence=Displayed; Name=2; IsoId=Q9QZS5-2; Sequence=VSP_004933; Activated by phosphorylation on Ser-356 by an unknown kinase (may be mTORC2 but not confirmed), transforming it into a substrate for PDPK1 which then phosphorylates it on Thr-193. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Not regulated by serum or glucocorticoids. nucleotide binding protein kinase activity protein serine/threonine kinase activity ATP binding cellular_component nucleus nucleoplasm cytoplasm protein phosphorylation potassium channel regulator activity kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation intracellular signal transduction uc008nsg.1 uc008nsg.2 uc008nsg.3 uc008nsg.4 uc008nsg.5 
ENSMUST00000018066.13 Prl3c1 ENSMUST00000018066.13 prolactin family 3, subfamily c, member 1, transcript variant 1 (from RefSeq NM_013766.2) ENSMUST00000018066.1 ENSMUST00000018066.10 ENSMUST00000018066.11 ENSMUST00000018066.12 ENSMUST00000018066.2 ENSMUST00000018066.3 ENSMUST00000018066.4 ENSMUST00000018066.5 ENSMUST00000018066.6 ENSMUST00000018066.7 ENSMUST00000018066.8 ENSMUST00000018066.9 NM_013766 PR3C1_MOUSE Prlpi Prlpj Q5SZY4 Q9QUN5 uc007pxh.1 uc007pxh.2 uc007pxh.3 uc007pxh.4 uc007pxh.5 uc007pxh.6 Secreted Expressed exclusively in decidua. Belongs to the somatotropin/prolactin family. Sequence=CAI24361.1; Type=Erroneous initiation; Evidence=; prolactin receptor binding hormone activity extracellular region extracellular space signal transduction female pregnancy positive regulation of cell proliferation mammary gland development response to nutrient levels positive regulation of JAK-STAT cascade positive regulation of lactation uc007pxh.1 uc007pxh.2 uc007pxh.3 uc007pxh.4 uc007pxh.5 uc007pxh.6 
ENSMUST00000018094.13 Hnf4a ENSMUST00000018094.13 hepatic nuclear factor 4, alpha, transcript variant 1 (from RefSeq NM_008261.3) A2A5I5 A2ICH0 ENSMUST00000018094.1 ENSMUST00000018094.10 ENSMUST00000018094.11 ENSMUST00000018094.12 ENSMUST00000018094.2 ENSMUST00000018094.3 ENSMUST00000018094.4 ENSMUST00000018094.5 ENSMUST00000018094.6 ENSMUST00000018094.7 ENSMUST00000018094.8 ENSMUST00000018094.9 HNF4A_MOUSE Hnf-4 Hnf4 NM_008261 Nr2a1 P49698 Q3UNX3 Q8CFY1 Tcf14 uc008ntb.1 uc008ntb.2 uc008ntb.3 uc008ntb.4 The protein encoded by this gene is a transcription factor involved in the development of the pancreas, liver, kidney, and intestines. The encoded protein also functions to maintain glucose homeostasis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]. Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitatating the recruitment of RNA pol II to the promoters of target genes (By similarity). Activates the transcription of CYP2C38 (PubMed:30555544). Represses the CLOCK-BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells (PubMed:30530698). Homodimerization is required for HNF4-alpha to bind to its recognition site (By similarity). Interacts with CLOCK, BMAL1 and PER1 (By similarity). Interacts with PER2 (PubMed:20159955). Interacts with CRY1 and CRY2 (PubMed:28751364). Interacts with NR0B2/SHP; the resulting heterodimer is transcriptionally inactive (By similarity). Interacts with DDX3X; this interaction disrupts the interaction between HNF4 and NR0B2 that forms inactive heterodimers and enhances the formation of active HNF4 homodimers (By similarity). Nucleus. Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=P49698-1; Sequence=Displayed; Name=Short; IsoId=P49698-2; Sequence=VSP_003676; Expressed in the liver, pancreas and colon in a circadian manner. The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. Phosphorylated on tyrosine residue(s); phosphorylation is important for its DNA-binding activity. Phosphorylation may directly or indirectly play a regulatory role in the subnuclear distribution. Phosphorylation at Ser-313 by AMPK reduces the ability to form homodimers and bind DNA (By similarity). Acetylation at Lys-458 lowers transcriptional activation by about two-fold. Pancreatic beta-cells-specific knockout results in hyperinsulinemia and hypoglycemia. Binds fatty acids. Belongs to the nuclear hormone receptor family. NR2 subfamily. Sequence=BAA06101.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; fatty-acyl-CoA binding RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding core promoter proximal region sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding type B pancreatic cell development DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity receptor binding fatty acid binding protein binding nucleus nucleoplasm transcription factor complex cytoplasm cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter ornithine metabolic process lipid metabolic process acyl-CoA metabolic process xenobiotic metabolic process establishment of tissue polarity sex differentiation blood coagulation transcription factor binding zinc ion binding negative regulation of cell proliferation response to glucose regulation of gastrulation palmitoyl-CoA hydrolase activity regulation of lipid metabolic process signal transduction involved in regulation of gene expression cell differentiation negative regulation of cell growth negative regulation of cell migration endocrine pancreas development regulation of microvillus assembly long-chain fatty acyl-CoA binding negative regulation of tyrosine phosphorylation of STAT protein glucose homeostasis cholesterol homeostasis regulation of circadian rhythm protein homodimerization activity steroid hormone mediated signaling pathway negative regulation of sequence-specific DNA binding transcription factor activity sequence-specific DNA binding transcription regulatory region DNA binding cell-cell junction organization positive regulation of gluconeogenesis positive regulation of fatty acid biosynthetic process negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated negative regulation of mitotic cell cycle positive regulation of transcription from RNA polymerase II promoter metal ion binding rhythmic process anatomical structure development arachidonic acid binding regulation of insulin secretion lipid homeostasis phospholipid homeostasis SMAD protein signal transduction triglyceride homeostasis hepatocyte differentiation repressing transcription factor binding stearic acid binding negative regulation of activation of JAK2 kinase activity uc008ntb.1 uc008ntb.2 uc008ntb.3 uc008ntb.4 
ENSMUST00000018113.8 Ptgis ENSMUST00000018113.8 prostaglandin I2 (prostacyclin) synthase, transcript variant 1 (from RefSeq NM_008968.5) Cyp8 ENSMUST00000018113.1 ENSMUST00000018113.2 ENSMUST00000018113.3 ENSMUST00000018113.4 ENSMUST00000018113.5 ENSMUST00000018113.6 ENSMUST00000018113.7 NM_008968 O35074 PTGIS_MOUSE uc008nzl.1 uc008nzl.2 uc008nzl.3 Catalyzes the biosynthesis and metabolism of eicosanoids. Catalyzes the isomerization of prostaglandin H2 to prostacyclin (= prostaglandin I2), a potent mediator of vasodilation and inhibitor of platelet aggregation. Additionally, displays dehydratase activity, toward hydroperoxyeicosatetraenoates (HPETEs), especially toward (15S)- hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate (15(S)-HPETE). Reaction=prostaglandin H2 = prostaglandin I2; Xref=Rhea:RHEA:23580, ChEBI:CHEBI:57403, ChEBI:CHEBI:57405; EC=5.3.99.4; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:23581; Evidence=; Reaction=a hydroperoxyeicosatetraenoate = an oxoeicosatetraenoate + H2O; Xref=Rhea:RHEA:55556, ChEBI:CHEBI:15377, ChEBI:CHEBI:59720, ChEBI:CHEBI:131859; EC=4.2.1.152; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55557; Evidence=; Reaction=(15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate = 15-oxo- (5Z,8Z,11Z,13E)-eicosatetraenoate + H2O; Xref=Rhea:RHEA:48636, ChEBI:CHEBI:15377, ChEBI:CHEBI:57410, ChEBI:CHEBI:57446; Evidence=; Reaction=(15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate + AH2 = (15S)-hydroxy-(5Z,8Z,11Z,13E)-eicosatetraenoate + A + H2O; Xref=Rhea:RHEA:48856, ChEBI:CHEBI:13193, ChEBI:CHEBI:15377, ChEBI:CHEBI:17499, ChEBI:CHEBI:57409, ChEBI:CHEBI:57446; Evidence=; Name=heme; Xref=ChEBI:CHEBI:30413; Evidence=; Endoplasmic reticulum membrane ; Single-pass membrane protein Belongs to the cytochrome P450 family. prostaglandin biosynthetic process response to hypoxia monooxygenase activity iron ion binding extracellular space nucleus cytoplasm endoplasmic reticulum endoplasmic reticulum membrane caveola lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process prostaglandin metabolic process embryo implantation prostaglandin-I synthase activity membrane integral component of membrane oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen isomerase activity heme binding negative regulation of NF-kappaB transcription factor activity positive regulation of peroxisome proliferator activated receptor signaling pathway negative regulation of nitric oxide biosynthetic process positive regulation of angiogenesis decidualization metal ion binding negative regulation of inflammatory response oxidation-reduction process cellular response to interleukin-1 cellular response to interleukin-6 cellular response to hypoxia apoptotic signaling pathway positive regulation of execution phase of apoptosis uc008nzl.1 uc008nzl.2 uc008nzl.3 
ENSMUST00000018143.16 Ddx27 ENSMUST00000018143.16 DEAD box helicase 27 (from RefSeq NM_153065.3) DDX27_MOUSE ENSMUST00000018143.1 ENSMUST00000018143.10 ENSMUST00000018143.11 ENSMUST00000018143.12 ENSMUST00000018143.13 ENSMUST00000018143.14 ENSMUST00000018143.15 ENSMUST00000018143.2 ENSMUST00000018143.3 ENSMUST00000018143.4 ENSMUST00000018143.5 ENSMUST00000018143.6 ENSMUST00000018143.7 ENSMUST00000018143.8 ENSMUST00000018143.9 NM_153065 Q3UUG2 Q8R0W3 Q8R1E2 Q921N6 uc008nzb.1 uc008nzb.2 uc008nzb.3 Probable ATP-dependent RNA helicase. Component of the nucleolar ribosomal RNA (rRNA) processing machinery that regulates 3' end formation of ribosomal 47S rRNA. Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Associates with PeBoW complex, composed of BOP1, PES1 and WDR12. Interacts directly with BOP1 and PES1. Nucleus, nucleolus Chromosome Note=Associates with 60S and 90S pre- ribosomal particles. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q921N6-1; Sequence=Displayed; Name=2; IsoId=Q921N6-2; Sequence=VSP_007073, VSP_007074; The C-terminal domain regulates nucleolar localization. Belongs to the DEAD box helicase family. DDX27/DRS1 subfamily. Sequence=AAH11321.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; nucleotide binding nucleic acid binding RNA binding RNA helicase activity helicase activity ATP binding nucleus chromosome nucleolus rRNA processing hydrolase activity ribosome biogenesis uc008nzb.1 uc008nzb.2 uc008nzb.3 
ENSMUST00000018156.12 Rac3 ENSMUST00000018156.12 Rac family small GTPase 3 (from RefSeq NM_133223.4) ENSMUST00000018156.1 ENSMUST00000018156.10 ENSMUST00000018156.11 ENSMUST00000018156.2 ENSMUST00000018156.3 ENSMUST00000018156.4 ENSMUST00000018156.5 ENSMUST00000018156.6 ENSMUST00000018156.7 ENSMUST00000018156.8 ENSMUST00000018156.9 NM_133223 Q14A12 Q14A12_MOUSE Rac3 uc007mug.1 uc007mug.2 uc007mug.3 nucleotide binding GTPase activity GTP binding small GTPase mediated signal transduction endomembrane system cell projection assembly actin cytoskeleton organization growth cone filamentous actin positive regulation of cell adhesion mediated by integrin neuron projection neuronal cell body calcium-dependent protein binding perinuclear region of cytoplasm cell periphery positive regulation of substrate adhesion-dependent cell spreading uc007mug.1 uc007mug.2 uc007mug.3 
ENSMUST00000018184.10 Rrp7a ENSMUST00000018184.10 ribosomal RNA processing 7 homolog A, transcript variant 1 (from RefSeq NM_029101.4) ENSMUST00000018184.1 ENSMUST00000018184.2 ENSMUST00000018184.3 ENSMUST00000018184.4 ENSMUST00000018184.5 ENSMUST00000018184.6 ENSMUST00000018184.7 ENSMUST00000018184.8 ENSMUST00000018184.9 NM_029101 Q3TWT8 Q8CCK8 Q9D1C9 RRP7A_MOUSE uc007wzy.1 uc007wzy.2 uc007wzy.3 uc007wzy.4 uc007wzy.5 Nucleolar protein that is involved in ribosomal RNA (rRNA) processing. Also plays a role in primary cilia resorption, and cell cycle progression in neurogenesis and neocortex development. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3. Interacts with NOL6; required for NOL6 localization to nucleolus. Nucleus, nucleolus Cell projection, cilium Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Belongs to the RRP7 family. ribosomal small subunit assembly blastocyst formation nucleic acid binding RNA binding cytoplasm rRNA processing CURI complex UTP-C complex uc007wzy.1 uc007wzy.2 uc007wzy.3 uc007wzy.4 uc007wzy.5 
ENSMUST00000018186.16 Cyb5r3 ENSMUST00000018186.16 cytochrome b5 reductase 3 (from RefSeq NM_029787.3) Cyb5r3 Dia1 ENSMUST00000018186.1 ENSMUST00000018186.10 ENSMUST00000018186.11 ENSMUST00000018186.12 ENSMUST00000018186.13 ENSMUST00000018186.14 ENSMUST00000018186.15 ENSMUST00000018186.2 ENSMUST00000018186.3 ENSMUST00000018186.4 ENSMUST00000018186.5 ENSMUST00000018186.6 ENSMUST00000018186.7 ENSMUST00000018186.8 ENSMUST00000018186.9 NB5R3_MOUSE NM_029787 Q9DCN2 uc007xac.1 uc007xac.2 uc007xac.3 uc007xac.4 Catalyzes the reduction of two molecules of cytochrome b5 using NADH as the electron donor. Reaction=2 Fe(III)-[cytochrome b5] + NADH = 2 Fe(II)-[cytochrome b5] + H(+) + NAD(+); Xref=Rhea:RHEA:46680, Rhea:RHEA-COMP:10438, Rhea:RHEA- COMP:10439, ChEBI:CHEBI:15378, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.6.2.2; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46681; Evidence=; Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Component of a complex composed of cytochrome b5, NADH- cytochrome b5 reductase (CYB5R3) and MTARC2 (By similarity). Interacts with MTLN; the interaction is required to maintain cellular lipid composition and leads to stimulation of mitochondrial respiratory complex I activity (PubMed:31296841). Endoplasmic reticulum membrane ; Lipid-anchor ; Cytoplasmic side Mitochondrion outer membrane ; Lipid-anchor ; Cytoplasmic side Event=Alternative promoter usage; Named isoforms=2; Name=1; Synonyms=M; IsoId=Q9DCN2-1; Sequence=Displayed; Name=2; Synonyms=S; IsoId=Q9DCN2-2; Sequence=VSP_012952; Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family. cytochrome-b5 reductase activity, acting on NAD(P)H protein binding cytoplasm mitochondrion mitochondrial outer membrane mitochondrial inner membrane endoplasmic reticulum endoplasmic reticulum membrane lipid particle lipid metabolic process steroid biosynthetic process cholesterol biosynthetic process steroid metabolic process cholesterol metabolic process membrane sterol biosynthetic process AMP binding oxidoreductase activity ADP binding flavin adenine dinucleotide binding NAD binding oxidation-reduction process FAD binding uc007xac.1 uc007xac.2 uc007xac.3 uc007xac.4 
ENSMUST00000018212.13 Ints2 ENSMUST00000018212.13 integrator complex subunit 2, transcript variant 2 (from RefSeq NM_027421.3) ENSMUST00000018212.1 ENSMUST00000018212.10 ENSMUST00000018212.11 ENSMUST00000018212.12 ENSMUST00000018212.2 ENSMUST00000018212.3 ENSMUST00000018212.4 ENSMUST00000018212.5 ENSMUST00000018212.6 ENSMUST00000018212.7 ENSMUST00000018212.8 ENSMUST00000018212.9 INT2_MOUSE Kiaa1287 NM_027421 Q5SXZ5 Q5SXZ6 Q6PCY7 Q6ZPU6 Q80UK8 Q8CB15 Q9CSE0 uc007ksj.1 uc007ksj.2 uc007ksj.3 Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes. Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex. Belongs to the multiprotein complex Integrator, at least composed of INTS1, INTS2, INTS3, INTS4, INTS5, INTS6, INTS7, INTS8, INTS9/RC74, INTS10, INTS11/CPSF3L and INTS12. Nucleus membrane ; Single-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q80UK8-1; Sequence=Displayed; Name=2; IsoId=Q80UK8-2; Sequence=VSP_018574, VSP_018575; Belongs to the Integrator subunit 2 family. Sequence=BAC98133.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; molecular_function nucleus cytoplasm membrane integral component of membrane snRNA processing nuclear membrane integrator complex snRNA 3'-end processing uc007ksj.1 uc007ksj.2 uc007ksj.3 
ENSMUST00000018246.6 H2bc4 ENSMUST00000018246.6 H2B clustered histone 4, transcript variant 1 (from RefSeq NM_023422.3) ENSMUST00000018246.1 ENSMUST00000018246.2 ENSMUST00000018246.3 ENSMUST00000018246.4 ENSMUST00000018246.5 H2B1C_MOUSE H2bc4 H2bc6 H2bc8 Hist1h2bc Hist1h2be Hist1h2bg NM_023422 Q6ZWY9 uc007pul.1 uc007pul.2 uc007pul.3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Aug 2015]. Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. The octamer wraps approximately 147 bp of DNA. Nucleus. Chromosome. Monoubiquitination at Lys-35 (H2BK34Ub) by the MSL1/MSL2 dimer is required for histone H3 'Lys-4' (H3K4me) and 'Lys-79' (H3K79me) methylation and transcription activation at specific gene loci, such as HOXA9 and MEIS1 loci. Similarly, monoubiquitination at Lys-121 (H2BK120Ub) by the RNF20/40 complex gives a specific tag for epigenetic transcriptional activation and is also prerequisite for histone H3 'Lys-4' and 'Lys-79' methylation. It also functions cooperatively with the FACT dimer to stimulate elongation by RNA polymerase II. H2BK120Ub also acts as a regulator of mRNA splicing: deubiquitination by USP49 is required for efficient cotranscriptional splicing of a large set of exons (By similarity). Phosphorylated on Ser-15 (H2BS14ph) by STK4/MST1 during apoptosis; which facilitates apoptotic chromatin condensation (PubMed:15197225, PubMed:16039583). Also phosphorylated on Ser-15 in response to DNA double strand breaks (DSBs), and in correlation with somatic hypermutation and immunoglobulin class-switch recombination (PubMed:15197225). Phosphorylation at Ser-37 (H2BS36ph) by AMPK in response to stress promotes transcription (PubMed:20647423, PubMed:32822587). GlcNAcylation at Ser-113 promotes monoubiquitination of Lys-121. It fluctuates in response to extracellular glucose, and associates with transcribed genes (By similarity). ADP-ribosylated by PARP1 or PARP2 on Ser-7 (H2BS6ADPr) in response to DNA damage (By similarity). H2BS6ADPr promotes recruitment of CHD1L (By similarity). Mono-ADP-ribosylated on Glu-3 (H2BE2ADPr) by PARP3 in response to single-strand breaks (By similarity). Poly ADP-ribosylation on Glu-36 (H2BE35ADPr) by PARP1 regulates adipogenesis: it inhibits phosphorylation at Ser-37 (H2BS36ph), thereby blocking expression of pro-adipogenetic genes (PubMed:32822587). Crotonylation (Kcr) is specifically present in male germ cells and marks testis-specific genes in post-meiotic cells, including X-linked genes that escape sex chromosome inactivation in haploid cells. Crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors. It is also associated with post-meiotically activated genes on autosomes. Hydroxybutyrylation of histones is induced by starvation. Lactylated in macrophages by EP300/P300 by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription. Belongs to the histone H2B family. nucleosome innate immune response in mucosa DNA binding extracellular space nucleus nucleoplasm chromosome cytosol nucleosome assembly antibacterial humoral response identical protein binding protein heterodimerization activity defense response to Gram-positive bacterium uc007pul.1 uc007pul.2 uc007pul.3 
ENSMUST00000018274.10 Csnk1d ENSMUST00000018274.10 casein kinase 1, delta, transcript variant 1 (from RefSeq NM_139059.3) ENSMUST00000018274.1 ENSMUST00000018274.2 ENSMUST00000018274.3 ENSMUST00000018274.4 ENSMUST00000018274.5 ENSMUST00000018274.6 ENSMUST00000018274.7 ENSMUST00000018274.8 ENSMUST00000018274.9 Hckid KC1D_MOUSE NM_139059 Q3TZK2 Q99KK4 Q9DC28 uc007mvb.1 uc007mvb.2 uc007mvb.3 This gene encodes a member of the casein kinase I (CKI) family of serine/threonine protein kinases. A highly similar human protein regulates an array of cellular processes by influencing the Wnt and hedgehog signaling pathways. The encoded protein may also be involved in the regulation of apoptosis, circadian rhythm, microtubule dynamics, chromosome segregation, and p53-mediated effects on growth. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. Essential serine/threonine-protein kinase that regulates diverse cellular growth and survival processes including Wnt signaling, DNA repair and circadian rhythms. It can phosphorylate a large number of proteins. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. Phosphorylates connexin-43/GJA1, MAP1A, SNAPIN, MAPT/TAU, TOP2A, DCK, HIF1A, EIF6, p53/TP53, DVL2, DVL3, ESR1, AIB1/NCOA3, DNMT1, PKD2, YAP1, PER1 and PER2. Central component of the circadian clock. In balance with PP1, determines the circadian period length through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. Controls PER1 and PER2 nuclear transport and degradation. YAP1 phosphorylation promotes its SCF(beta-TRCP) E3 ubiquitin ligase-mediated ubiquitination and subsequent degradation. DNMT1 phosphorylation reduces its DNA-binding activity. Phosphorylation of ESR1 and AIB1/NCOA3 stimulates their activity and coactivation. Phosphorylation of DVL2 and DVL3 regulates WNT3A signaling pathway that controls neurite outgrowth. Phosphorylates NEDD9/HEF1 (PubMed:29191835). EIF6 phosphorylation promotes its nuclear export. Triggers down-regulation of dopamine receptors in the forebrain. Activates DCK in vitro by phosphorylation. TOP2A phosphorylation favors DNA cleavable complex formation. May regulate the formation of the mitotic spindle apparatus in extravillous trophoblast. Modulates connexin-43/GJA1 gap junction assembly by phosphorylation. Probably involved in lymphocyte physiology. Regulates fast synaptic transmission mediated by glutamate. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:17990; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46609; Evidence=; Reaction=ATP + L-seryl-[tau protein] = ADP + H(+) + O-phospho-L-seryl- [tau protein]; Xref=Rhea:RHEA:12801, Rhea:RHEA-COMP:13701, Rhea:RHEA- COMP:13702, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.26; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:12802; Evidence=; Reaction=ATP + L-threonyl-[tau protein] = ADP + H(+) + O-phospho-L- threonyl-[tau protein]; Xref=Rhea:RHEA:53904, Rhea:RHEA-COMP:13703, Rhea:RHEA-COMP:13704, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.26; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:53905; Evidence=; Exhibits substrate-dependent heparin activation. Drug-mediated inhibition leads to a delay of the oscillations with the magnitude of this effect dependent upon the timing of drug administration. Inhibited by phosphorylation (By similarity). Monomer (By similarity). Component of the circadian core oscillator, which includes the CRY proteins, CLOCK, or NPAS2, BMAL1 or BMAL2, CSNK1D and/or CSNK1E, TIMELESS and the PER proteins (PubMed:11779462). Interacts directly with PER1 and PER2 which may lead to their degradation (By similarity). Interacts with MAP1A (By similarity). Interacts with MAPT/TAU, DBNDD2, AIB1/NCOA3 and ESR1 (By similarity). Interacts with AKAP9/AKAP450; this interaction promotes centrosomal subcellular location (By similarity). Binds to tubulins in mitotic cells upon DNA damage (By similarity). Interacts with GJA1 (By similarity). Interacts with SNAPIN (PubMed:17101137). Interacts with DNMT1 (PubMed:20192920). Interacts with DDX3X; this interaction enhances CSNK1D kinase activity in vitro, but it is unclear whether this interaction is physiologically relevant (By similarity). Cytoplasm Nucleus toplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, perinuclear region Cell membrane Cytoplasm, cytoskeleton, spindle Golgi apparatus Note=Localized at mitotic spindle microtubules, and at the centrosomes and interphase in interphase cells. Recruited to the spindle apparatus and the centrosomes in response to DNA-damage. Correct subcellular localization requires kinase activity (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9DC28-1; Sequence=Displayed; Name=2; IsoId=Q9DC28-2; Sequence=VSP_010254; Expressed ubiquitously. However, kinase activity is not uniform, with highest kinase activity in splenocytes. Autophosphorylated on serine and threonine residues; this autophosphorylation represses activity. Reactivated by phosphatase- mediated dephosphorylation. May be dephosphorylated by PP1. Lethal. There are fewer embryos than expected at late stages of gestation; they weigh about 30% less than control animals, but appear otherwise normal. Mice die shortly after birth. Tissue-specific disruption increases the half-life of PER2 protein and alters circadian protein expression dynamics. Belongs to the protein kinase superfamily. CK1 Ser/Thr protein kinase family. Casein kinase I subfamily. nucleotide binding positive regulation of protein phosphorylation protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus nucleoplasm cytoplasm Golgi apparatus centrosome microtubule organizing center spindle cytosol cytoskeleton spindle microtubule plasma membrane protein phosphorylation microtubule nucleation Golgi organization membrane Wnt signaling pathway kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation positive regulation of Wnt signaling pathway positive regulation of proteasomal ubiquitin-dependent protein catabolic process circadian regulation of gene expression protein localization to Golgi apparatus regulation of circadian rhythm neuron projection perinuclear region of cytoplasm rhythmic process tau-protein kinase activity spindle assembly protein localization to cilium protein localization to centrosome positive regulation of canonical Wnt signaling pathway positive regulation of Wnt-mediated midbrain dopaminergic neuron differentiation non-motile cilium assembly cellular response to nerve growth factor stimulus positive regulation of non-canonical Wnt signaling pathway uc007mvb.1 uc007mvb.2 uc007mvb.3 
ENSMUST00000018287.10 Mafk ENSMUST00000018287.10 v-maf musculoaponeurotic fibrosarcoma oncogene family, protein K (avian) (from RefSeq NM_010757.2) ENSMUST00000018287.1 ENSMUST00000018287.2 ENSMUST00000018287.3 ENSMUST00000018287.4 ENSMUST00000018287.5 ENSMUST00000018287.6 ENSMUST00000018287.7 ENSMUST00000018287.8 ENSMUST00000018287.9 MAFK_MOUSE NM_010757 Nfe2u Q60600 Q61827 uc009ahd.1 uc009ahd.2 uc009ahd.3 Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves (By similarity). However, they act as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins, such as NFE2, NFE2L1/NRF1, NFE2L2/NRF2 and NFE2L3/NRF3, and recruiting them to specific DNA-binding sites (PubMed:9240432). Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor (By similarity). Homodimer or heterodimer (By similarity). It can form high affinity heterodimers with members of the CNC-bZIP family such as NFE2, NFE2L1/NRF1, NFE2L2/NRF2 and NFE2L3/NRF3 (PubMed:9240432). Q61827; P97302: Bach1; NbExp=5; IntAct=EBI-15740843, EBI-2552417; Nucleus. Highly expressed in heart, skeletal muscle and placenta. Also expressed in erythroid cells. Belongs to the bZIP family. Maf subfamily. negative regulation of transcription from RNA polymerase II promoter transcription regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription cofactor binding DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm regulation of transcription, DNA-templated nervous system development sequence-specific DNA binding RING-like zinc finger domain binding uc009ahd.1 uc009ahd.2 uc009ahd.3 
ENSMUST00000018311.5 Stard3 ENSMUST00000018311.5 StAR related lipid transfer domain containing 3, transcript variant 7 (from RefSeq NR_189334.1) ENSMUST00000018311.1 ENSMUST00000018311.2 ENSMUST00000018311.3 ENSMUST00000018311.4 Es64 Mln64 NR_189334 Q61542 STAR3_MOUSE Stard3 uc007lgc.1 uc007lgc.2 uc007lgc.3 uc007lgc.4 Sterol-binding protein that mediates cholesterol transport from the endoplasmic reticulum to endosomes. The sterol transport mechanism is triggered by phosphorylation of FFAT motif that leads to membrane tethering between the endoplasmic reticulum and late endosomes via interaction with VAPA and VAPB. Acts as a lipid transfer protein that redirects sterol to the endosome at the expense of the cell membrane and favors membrane formation inside endosomes. May also mediate cholesterol transport between other membranes, such as mitochondria membrane or cell membrane. However, such results need additional experimental evidences; probably mainly mediates cholesterol transport from the endoplasmic reticulum to endosomes. Does not activate transcriptional cholesterol sensing. Able to bind other lipids, such as lutein, a xanthophyll carotenoids that form the macular pigment of the retina. Reaction=cholesterol(in) = cholesterol(out); Xref=Rhea:RHEA:39747, ChEBI:CHEBI:16113; Evidence=; Homodimer. Interacts (via the MENTAL domain) with STARD3NL. Interacts (via phosphorylated FFAT motif) with VAPA (via MSP domain). Interacts (via phosphorylated FFAT motif) with VAPB (via MSP domain). Interacts (via phosphorylated FFAT motif) with MOSPD2 (via MSP domain); this interaction allows enrichment of MOSPD2 around endosomes. Late endosome membrane ; Multi-pass membrane protein Note=Localizes to contact sites between the endoplasmic reticulum and late endosomes: associates with the endoplasmic reticulum membrane via interaction with VAPA, VAPB or MOSPD2. The FFAT motif mediates interaction with VAPA, VAPB and MOSPD2. The START domain mediates lipid-transfer between membranes. It contains a hydrophobic cavity able to accommodate one lipid molecule, thereby serving as a 'hydrophobic bridge' across the aqueous gap between donor and acceptor organelle membranes. The MENTAL domain anchors the protein in endosome membranes and exposes the START domain in the cytosol. It binds cholesterol and mediates homotypic as well as heterotypic interactions between STARD3 and STARD3NL. Phosphorylation at Ser-210 is necessary and sufficient for the direct interaction of the phosphorylated FFAT motif with the MSP domain of MOSPD2, VAPA and VAPB and allows the tethering of two membranes that participates in the formation of ER-endosome contacts. Phosphorylation of the FFAT motif leads to conformation changes. Additional phosphorylations around the core FFAT motif (QFYSPPE) are not essential but strengthen the interaction with MOSPD2, VAPA and VAPB. Phosphorylation at Ser-210 of FFAT motif drives membrane tethering between the endoplasmic reticulum and late endosomes via interaction with VAPA and VAPB that in turn allows the efficient transport of sterol mediated by the START domain. Belongs to the STARD3 family. cytoplasm mitochondrion endosome late endosome endoplasmic reticulum membrane progesterone biosynthetic process lipid transport lipid binding cholesterol binding membrane integral component of membrane cholesterol transport late endosome membrane protein homodimerization activity organelle membrane contact site vesicle tethering to endoplasmic reticulum uc007lgc.1 uc007lgc.2 uc007lgc.3 uc007lgc.4 
ENSMUST00000018313.6 Mfng ENSMUST00000018313.6 MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase, transcript variant 8 (from RefSeq NR_177242.1) ENSMUST00000018313.1 ENSMUST00000018313.2 ENSMUST00000018313.3 ENSMUST00000018313.4 ENSMUST00000018313.5 Mfng NR_177242 Q3UPI0 Q3UPI0_MOUSE uc007wri.1 uc007wri.2 uc007wri.3 Reaction=3-O-(alpha-L-fucosyl)-L-seryl-[EGF-like domain protein] + UDP- N-acetyl-alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl- (1->3)-alpha-L-fucosyl)-L-seryl-[EGF-like domain protein] + H(+) + UDP; Xref=Rhea:RHEA:70511, Rhea:RHEA-COMP:17919, Rhea:RHEA- COMP:17920, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:189632, ChEBI:CHEBI:189633; EC=2.4.1.222; Evidence= Reaction=3-O-(alpha-L-fucosyl)-L-threonyl-[EGF-like domain protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl- (1->3)-alpha-L-fucosyl)-L-threonyl-[EGF-like domain protein] + H(+) + UDP; Xref=Rhea:RHEA:70531, Rhea:RHEA-COMP:17922, Rhea:RHEA- COMP:17923, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:58223, ChEBI:CHEBI:189631, ChEBI:CHEBI:189634; EC=2.4.1.222; Evidence= Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence= Golgi apparatus membrane ; Single-pass type II membrane protein Membrane ; Single-pass type II membrane protein Belongs to the glycosyltransferase 31 family. Golgi membrane Golgi apparatus pattern specification process membrane transferase activity transferase activity, transferring glycosyl groups integral component of Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity metal ion binding uc007wri.1 uc007wri.2 uc007wri.3 
ENSMUST00000018315.10 Vmp1 ENSMUST00000018315.10 vacuole membrane protein 1, transcript variant 1 (from RefSeq NM_029478.6) A2V655 ENSMUST00000018315.1 ENSMUST00000018315.2 ENSMUST00000018315.3 ENSMUST00000018315.4 ENSMUST00000018315.5 ENSMUST00000018315.6 ENSMUST00000018315.7 ENSMUST00000018315.8 ENSMUST00000018315.9 NM_029478 Q3TX07 Q8BHD3 Q99KU0 VMP1_MOUSE Vmp1 uc007ksv.1 uc007ksv.2 uc007ksv.3 Phospholipid scramblase involved in lipid homeostasis and membrane dynamics processes (By similarity). Has phospholipid scramblase activity toward cholesterol and phosphatidylserine, as well as phosphatidylethanolamine and phosphatidylcholine (By similarity). Required for autophagosome formation: participates in early stages of autophagosome biogenesis at the endoplasmic reticulum (ER) membrane by reequilibrating the leaflets of the ER as lipids are extracted by ATG2 (ATG2A or ATG2B) to mediate autophagosome assembly (PubMed:17940279, PubMed:28890335). Regulates ATP2A2 activity to control ER-isolation membrane contacts for autophagosome formation (By similarity). In addition to autophagy, involved in other processes in which phospholipid scramblase activity is required (By similarity). Modulates ER contacts with lipid droplets, mitochondria and endosomes (By similarity). Plays an essential role in formation of cell junctions (PubMed:31526472). Upon stress such as bacterial and viral infection, promotes formation of cytoplasmic vacuoles followed by cell death (By similarity). Involved in the cytoplasmic vacuolization of acinar cells during the early stage of acute pancreatitis (By similarity). Reaction=a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) = a 1,2-diacyl- sn-glycero-3-phospho-L-serine(out); Xref=Rhea:RHEA:38663, ChEBI:CHEBI:57262; Evidence=; Reaction=cholesterol(in) = cholesterol(out); Xref=Rhea:RHEA:39747, ChEBI:CHEBI:16113; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl- sn-glycero-3-phosphocholine(out); Xref=Rhea:RHEA:38571, ChEBI:CHEBI:57643; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) = a 1,2- diacyl-sn-glycero-3-phosphoethanolamine(out); Xref=Rhea:RHEA:38895, ChEBI:CHEBI:64612; Evidence=; Interacts with BECN1 (By similarity). Interacts with TJP1. Interacts with TP53INP2. Interacts with TMEM41B. Interacts with ATP2A2, PLN and SLN; competes with PLN and SLN to prevent them from forming an inhibitory complex with ATP2A2. Interacts with ATG2A (By similarity). Endoplasmic reticulum-Golgi intermediate compartment membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein Vacuole membrane ; Multi- pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein The VTT domain was previously called the SNARE-assoc domain. As there is no evidence that this domain associates with SNARE proteins, it was renamed as VMP1, TMEM41, and TVP38 (VTT) domain. Mutants show early embryonic lethality with lipid accumulation in the visceral endoderm (PubMed:31526472). Intestinal epithelial cell-specific knockout show accumulation of lipids in intestinal epithelial cells (PubMed:31526472). Belongs to the VMP1 family. autophagosome assembly pre-autophagosomal structure autophagosome membrane molecular_function nucleolus vacuole vacuolar membrane endoplasmic reticulum plasma membrane autophagy Golgi organization cell adhesion embryo implantation membrane integral component of membrane endoplasmic reticulum-Golgi intermediate compartment membrane cell junction assembly cell-cell adhesion uc007ksv.1 uc007ksv.2 uc007ksv.3 
ENSMUST00000018337.9 Cdc73 ENSMUST00000018337.9 cell division cycle 73, Paf1/RNA polymerase II complex component (from RefSeq NM_145991.2) CDC73_MOUSE ENSMUST00000018337.1 ENSMUST00000018337.2 ENSMUST00000018337.3 ENSMUST00000018337.4 ENSMUST00000018337.5 ENSMUST00000018337.6 ENSMUST00000018337.7 ENSMUST00000018337.8 NM_145991 Q8JZM7 uc007cwx.1 uc007cwx.2 uc007cwx.3 uc007cwx.4 Tumor suppressor probably involved in transcriptional and post-transcriptional control pathways. May be involved in cell cycle progression through the regulation of cyclin D1/PRAD1 expression. Component of the PAF1 complex (PAF1C) which has multiple functions during transcription by RNA polymerase II and is implicated in regulation of development and maintenance of embryonic stem cell pluripotency. PAF1C associates with RNA polymerase II through interaction with POLR2A CTD non-phosphorylated and 'Ser-2'- and 'Ser- 5'-phosphorylated forms and is involved in transcriptional elongation, acting both independently and synergistically with TCEA1 and in cooperation with the DSIF complex and HTATSF1. PAF1C is required for transcription of Hox and Wnt target genes. PAF1C is involved in hematopoiesis and stimulates transcriptional activity of KMT2A/MLL1. PAF1C is involved in histone modifications such as ubiquitination of histone H2B and methylation on histone H3 'Lys-4' (H3K4me3). PAF1C recruits the RNF20/40 E3 ubiquitin-protein ligase complex and the E2 enzyme UBE2A or UBE2B to chromatin which mediate monoubiquitination of 'Lys-120' of histone H2B (H2BK120ub1); UB2A/B-mediated H2B ubiquitination is proposed to be coupled to transcription. PAF1C is involved in mRNA 3' end formation probably through association with cleavage and poly(A) factors. Connects PAF1C with the cleavage and polyadenylation specificity factor (CPSF) complex and the cleavage stimulation factor (CSTF) complex, and with Wnt signaling. Involved in polyadenylation of mRNA precursors (By similarity). Component of the PAF1 complex, which consists of CDC73, PAF1, LEO1, CTR9, RTF1 and SKIC8. The PAF1 complex interacts with PHF5A (PubMed:27749823). Within the PAF1 complex interacts directly with PHF5A (PubMed:27749823). Interacts with POLR2A, CPSF1, CPSF4, CSTF2, KMT2A/MLL1 and CTNNB1. Interacts with a Set1-like complex that has histone methyltransferase activity and methylates histone H3. Found in a complex with BCL9L or BCL9, CDC73, CTNNB1 and PYGO1 indicative for the participation in a nuclear Wnt signaling complex. Interacts with PTPN11 (By similarity). Interacts with SETD5 (PubMed:27864380). Nucleus Found in the adrenal gland, kidney, heart, ovary and liver. Phosphorylated. Dephosphorylated by PTPN11. Belongs to the CDC73 family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core binding regulation of cell growth endodermal cell fate commitment protein binding nucleus cytosol regulation of transcription from RNA polymerase II promoter transcription elongation from RNA polymerase II promoter mRNA polyadenylation cell cycle negative regulation of cell proliferation histone monoubiquitination Wnt signaling pathway histone modification Cdc73/Paf1 complex stem cell population maintenance positive regulation of Wnt signaling pathway positive regulation of mRNA 3'-end processing protein destabilization positive regulation of transcription elongation from RNA polymerase II promoter histone H2B ubiquitination recruitment of 3'-end processing factors to RNA polymerase II holoenzyme complex negative regulation of apoptotic process negative regulation of myeloid cell differentiation positive regulation of transcription from RNA polymerase II promoter negative regulation of fibroblast proliferation negative regulation of epithelial cell proliferation cellular response to lipopolysaccharide positive regulation of cell cycle G1/S phase transition negative regulation of G1/S transition of mitotic cell cycle uc007cwx.1 uc007cwx.2 uc007cwx.3 uc007cwx.4 
ENSMUST00000018353.14 Stk4 ENSMUST00000018353.14 serine/threonine kinase 4 (from RefSeq NM_021420.4) ENSMUST00000018353.1 ENSMUST00000018353.10 ENSMUST00000018353.11 ENSMUST00000018353.12 ENSMUST00000018353.13 ENSMUST00000018353.2 ENSMUST00000018353.3 ENSMUST00000018353.4 ENSMUST00000018353.5 ENSMUST00000018353.6 ENSMUST00000018353.7 ENSMUST00000018353.8 ENSMUST00000018353.9 Mst1 NM_021420 Q9JI11 STK4_MOUSE uc008ntt.1 uc008ntt.2 uc008ntt.3 Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. STK3/MST2 and STK4/MST1 are required to repress proliferation of mature hepatocytes, to prevent activation of facultative adult liver stem cells (oval cells), and to inhibit tumor formation. Phosphorylates 'Ser-14' of histone H2B (H2BS14ph) during apoptosis. Phosphorylates FOXO3 upon oxidative stress, which results in its nuclear translocation and cell death initiation. Phosphorylates MOBKL1A, MOBKL1B and RASSF2. Phosphorylates TNNI3 (cardiac Tn-I) and alters its binding affinity to TNNC1 (cardiac Tn-C) and TNNT2 (cardiac Tn-T). Phosphorylates FOXO1 on 'Ser-212' and regulates its activation and stimulates transcription of PMAIP1 in a FOXO1-dependent manner. Phosphorylates SIRT1 and inhibits SIRT1-mediated p53/TP53 deacetylation, thereby promoting p53/TP53 dependent transcription and apoptosis upon DNA damage. Acts as an inhibitor of PKB/AKT1. Phosphorylates AR on 'Ser-650' and suppresses its activity by intersecting with PKB/AKT1 signaling and antagonizing formation of AR-chromatin complexes (By similarity). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Inhibited by the C-terminal non-catalytic region. Activated by caspase-cleavage. Full activation also requires homodimerization and autophosphorylation of Thr-183. Activated by RASSF1 which acts by preventing its dephosphorylation (By similarity). Homodimer; mediated via the coiled-coil region. Interacts with NORE1, which inhibits autoactivation. Interacts with and stabilizes SAV1. Interacts with RASSF1. Interacts with FOXO3. Interacts with RASSF2 (via SARAH domain). Interacts with AR, PKB/AKT1, TNNI3 and SIRT1. Interacts with MARK3 and SCRIB in the presence of DLG5 (By similarity). Interacts with DLG5 (via PDZ domain 3) (PubMed:28087714). Q9JI11; Q5EBH1: Rassf5; NbExp=3; IntAct=EBI-1181352, EBI-960530; Cytoplasm Nucleus Note=The caspase-cleaved form cycles between nucleus and cytoplasm. Autophosphorylated on serine and threonine residues. Phosphorylation at Thr-387 by PKB/AKT1, leads to inhibition of its: kinase activity, nuclear translocation and autophosphorylation at Thr- 183. It also diminishes its cleavage by caspases and its ability to phosphorylate FOXO3 (By similarity). Proteolytically cleaved by caspase-3 during apoptosis at Asp-326 resulting in a 37 kDa form. Proteolytic cleavage results in kinase activation and nuclear translocation of the truncated form (MST1/N). Mice show progressive hepatomegaly with a 2-fold increase in liver mass relative to total body mass at 1 month of age and a 3-fold increase by 3 months of age. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. nucleotide binding magnesium ion binding cell morphogenesis branching involved in blood vessel morphogenesis neural tube formation positive regulation of protein phosphorylation endocardium development protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus nucleoplasm cytoplasm cytosol protein phosphorylation apoptotic process signal transduction central nervous system development transcription factor binding negative regulation of cell proliferation kinase activity phosphorylation nuclear body transferase activity peptidyl-serine phosphorylation signal transduction by protein phosphorylation keratinocyte differentiation positive regulation of protein binding activation of protein kinase activity macromolecular complex positive regulation of peptidyl-serine phosphorylation hippo signaling intracellular signal transduction identical protein binding protein homodimerization activity positive regulation of apoptotic process positive regulation of fat cell differentiation negative regulation of organ growth protein autophosphorylation metal ion binding protein dimerization activity neuron projection morphogenesis protein stabilization primitive hemopoiesis cell differentiation involved in embryonic placenta development regulation of cell differentiation involved in embryonic placenta development negative regulation of canonical Wnt signaling pathway hepatocyte apoptotic process positive regulation of extrinsic apoptotic signaling pathway via death domain receptors positive regulation of vascular associated smooth muscle cell apoptotic process uc008ntt.1 uc008ntt.2 uc008ntt.3 
ENSMUST00000018382.7 Gdf9 ENSMUST00000018382.7 growth differentiation factor 9 (from RefSeq NM_008110.2) ENSMUST00000018382.1 ENSMUST00000018382.2 ENSMUST00000018382.3 ENSMUST00000018382.4 ENSMUST00000018382.5 ENSMUST00000018382.6 Gdf9 NM_008110 Q3UWR9 Q3UWR9_MOUSE uc007iwa.1 uc007iwa.2 uc007iwa.3 uc007iwa.4 uc007iwa.5 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates ovarian function. Female mice that are homozygous null for this gene are sterile with impaired folliculogenesis. [provided by RefSeq, Jul 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC052667.1, AK136145.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Homodimer or heterodimer (Potential). But, in contrast to other members of this family, cannot be disulfide-linked. Secreted Belongs to the TGF-beta family. extracellular region signal transduction growth factor activity positive regulation of cell proliferation regulation of progesterone secretion uc007iwa.1 uc007iwa.2 uc007iwa.3 uc007iwa.4 uc007iwa.5 
ENSMUST00000018383.10 Zcchc10 ENSMUST00000018383.10 zinc finger, CCHC domain containing 10 (from RefSeq NM_026479.4) ENSMUST00000018383.1 ENSMUST00000018383.2 ENSMUST00000018383.3 ENSMUST00000018383.4 ENSMUST00000018383.5 ENSMUST00000018383.6 ENSMUST00000018383.7 ENSMUST00000018383.8 ENSMUST00000018383.9 NM_026479 Q9CX48 ZCH10_MOUSE uc007ivt.1 uc007ivt.2 uc007ivt.3 molecular_function nucleic acid binding cellular_component biological_process zinc ion binding metal ion binding uc007ivt.1 uc007ivt.2 uc007ivt.3 
ENSMUST00000018389.5 Prl8a8 ENSMUST00000018389.5 prolactin family 8, subfamily a, member 81, transcript variant 2 (from RefSeq NM_023741.3) ENSMUST00000018389.1 ENSMUST00000018389.2 ENSMUST00000018389.3 ENSMUST00000018389.4 NM_023741 PR8A8_MOUSE Prlpc3 Q8VHE8 Q9DAS4 uc007pxr.1 uc007pxr.2 uc007pxr.3 uc007pxr.4 Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9DAS4-1; Sequence=Displayed; Name=2; IsoId=Q9DAS4-2; Sequence=VSP_016781; Expressed specifically in the placenta. Predominantly expressed in spongiotrophoblast cells. Increases in abundance as gestation advanced. Predominandtly expressed in the junctional zone during the latter third of gestation. Belongs to the somatotropin/prolactin family. prolactin receptor binding hormone activity extracellular region extracellular space signal transduction female pregnancy positive regulation of cell proliferation mammary gland development response to nutrient levels positive regulation of JAK-STAT cascade positive regulation of lactation uc007pxr.1 uc007pxr.2 uc007pxr.3 uc007pxr.4 
ENSMUST00000018392.9 Prl8a6 ENSMUST00000018392.9 prolactin family 8, subfamily a, member 6, transcript variant 4 (from RefSeq NR_073166.1) ENSMUST00000018392.1 ENSMUST00000018392.2 ENSMUST00000018392.3 ENSMUST00000018392.4 ENSMUST00000018392.5 ENSMUST00000018392.6 ENSMUST00000018392.7 ENSMUST00000018392.8 NR_073166 PR8A6_MOUSE Prlpc Prlpc1 Q9DAW0 Q9DAY2 Q9Z249 uc007pxo.1 uc007pxo.2 uc007pxo.3 uc007pxo.4 Secreted Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9DAY2-1; Sequence=Displayed; Name=2; IsoId=Q9DAY2-2; Sequence=VSP_016904; Name=3; IsoId=Q9DAY2-3; Sequence=VSP_016903; Expressed specifically in the spongiotrophoblast and trophoblast giant cells from the junctional zone of the chorioallantoic placenta. Expression increased from midgestation to the end of the pregnancy. Belongs to the somatotropin/prolactin family. receptor binding prolactin receptor binding hormone activity extracellular region extracellular space signal transduction female pregnancy positive regulation of cell proliferation mammary gland development response to nutrient levels positive regulation of JAK-STAT cascade positive regulation of lactation uc007pxo.1 uc007pxo.2 uc007pxo.3 uc007pxo.4 
ENSMUST00000018399.3 Krt33a ENSMUST00000018399.3 keratin 33A (from RefSeq NM_027983.3) ENSMUST00000018399.1 ENSMUST00000018399.2 KT33A_MOUSE Krt33a NM_027983 Q8K0Y2 Q9D7C4 uc007lka.1 uc007lka.2 uc007lka.3 uc007lka.4 There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. structural molecule activity protein binding intermediate filament biological_process uc007lka.1 uc007lka.2 uc007lka.3 uc007lka.4 
ENSMUST00000018403.8 Prl8a2 ENSMUST00000018403.8 prolactin family 8, subfamily a, member 2, transcript variant 1 (from RefSeq NM_010088.2) Dtprp ENSMUST00000018403.1 ENSMUST00000018403.2 ENSMUST00000018403.3 ENSMUST00000018403.4 ENSMUST00000018403.5 ENSMUST00000018403.6 ENSMUST00000018403.7 Ghd11 NM_010088 O54832 O54832_MOUSE Prl8a2 dPRP uc007pxl.1 uc007pxl.2 uc007pxl.3 uc007pxl.4 Secreted Belongs to the somatotropin/prolactin family. response to hypoxia prolactin receptor binding hormone activity extracellular region extracellular space signal transduction female pregnancy positive regulation of cell proliferation mammary gland development response to nutrient levels positive regulation of JAK-STAT cascade maternal process involved in female pregnancy positive regulation of lactation uc007pxl.1 uc007pxl.2 uc007pxl.3 uc007pxl.4 
ENSMUST00000018407.10 Tbx5 ENSMUST00000018407.10 T-box 5 (from RefSeq NM_011537.3) ENSMUST00000018407.1 ENSMUST00000018407.2 ENSMUST00000018407.3 ENSMUST00000018407.4 ENSMUST00000018407.5 ENSMUST00000018407.6 ENSMUST00000018407.7 ENSMUST00000018407.8 ENSMUST00000018407.9 NM_011537 Q5CZX7 Q5CZX7_MOUSE Tbx5 uc008zgz.1 uc008zgz.2 uc008zgz.3 uc008zgz.4 Nucleus Lacks conserved residue(s) required for the propagation of feature annotation. RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus cytoplasm regulation of transcription, DNA-templated cell-cell signaling heart development transcription factor binding negative regulation of cell proliferation embryonic limb morphogenesis negative regulation of cell migration macromolecular complex protein-DNA complex embryonic forelimb morphogenesis forelimb morphogenesis sequence-specific DNA binding positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of cardioblast differentiation pericardium development negative regulation of cardiac muscle cell proliferation uc008zgz.1 uc008zgz.2 uc008zgz.3 uc008zgz.4 
ENSMUST00000018429.12 Pld2 ENSMUST00000018429.12 phospholipase D2, transcript variant 2 (from RefSeq NM_008876.3) ENSMUST00000018429.1 ENSMUST00000018429.10 ENSMUST00000018429.11 ENSMUST00000018429.2 ENSMUST00000018429.3 ENSMUST00000018429.4 ENSMUST00000018429.5 ENSMUST00000018429.6 ENSMUST00000018429.7 ENSMUST00000018429.8 ENSMUST00000018429.9 NM_008876 Pld2 Q5SXG5 Q5SXG5_MOUSE uc007jvg.1 uc007jvg.2 uc007jvg.3 uc007jvg.4 This gene is a member of the phospholipase D (PLD) superfamily. The encoded protein catalyzes the hydrolysis of phosphatidylcholine to phosphatidic acid and choline. Phosphatidic acid is an essential intracellular lipid second messenger for many signaling pathways and has been implicated in a variety of physiological processes including cytoskeletal organization and cell proliferation. A similar gene in human may also function as a guanine nucleotide exchange factor (GEF) for the small GTPase Rac2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a 1,2-diacyl- sn-glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:14445, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57643, ChEBI:CHEBI:58608; EC=3.1.4.4; Evidence=; Belongs to the phospholipase D family. catalytic activity phospholipase D activity phosphatidic acid biosynthetic process lipid catabolic process hydrolase activity phosphatidylinositol binding inositol lipid-mediated signaling N-acylphosphatidylethanolamine-specific phospholipase D activity uc007jvg.1 uc007jvg.2 uc007jvg.3 uc007jvg.4 
ENSMUST00000018430.7 Psmb6 ENSMUST00000018430.7 proteasome (prosome, macropain) subunit, beta type 6 (from RefSeq NM_008946.4) ENSMUST00000018430.1 ENSMUST00000018430.2 ENSMUST00000018430.3 ENSMUST00000018430.4 ENSMUST00000018430.5 ENSMUST00000018430.6 Lmp19 NM_008946 PSB6_MOUSE Q3V240 Q60692 Q60693 Q8BJX9 Q91VH5 uc007jve.1 uc007jve.2 uc007jve.3 uc007jve.4 Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin- independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Within the 20S core complex, PSMB6 displays a peptidylglutamyl-hydrolyzing activity also termed postacidic or caspase-like activity, meaning that the peptides bond hydrolysis occurs directly after acidic residues. Reaction=Cleavage of peptide bonds with very broad specificity.; EC=3.4.25.1; Evidence=; The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is a barrel-shaped complex made of 28 subunits that are arranged in four stacked rings. The two outer rings are each formed by seven alpha subunits, and the two inner rings are formed by seven beta subunits. The proteolytic activity is exerted by three beta-subunits PSMB5, PSMB6 and PSMB7. Cytoplasm Nucleus Note=Translocated from the cytoplasm into the nucleus following interaction with AKIRIN2, which bridges the proteasome with the nuclear import receptor IPO9. Up-regulated by the antioxidant dithiolethione (D3T) in liver, lung and small intestine (at protein level). Belongs to the peptidase T1B family. Sequence=AAA75375.1; Type=Erroneous initiation; Evidence=; Sequence=AAA75376.1; Type=Erroneous initiation; Evidence=; Sequence=AAH13897.1; Type=Erroneous initiation; Evidence=; Sequence=BAE20959.1; Type=Frameshift; Evidence=; proteasome complex endopeptidase activity threonine-type endopeptidase activity nucleus nucleoplasm cytoplasm cytosol proteasome core complex proteolysis peptidase activity proteasomal protein catabolic process proteasomal ubiquitin-independent protein catabolic process hydrolase activity proteasome core complex, beta-subunit complex proteasome-mediated ubiquitin-dependent protein catabolic process proteolysis involved in cellular protein catabolic process uc007jve.1 uc007jve.2 uc007jve.3 uc007jve.4 
ENSMUST00000018431.13 Spag7 ENSMUST00000018431.13 sperm associated antigen 7, transcript variant 1 (from RefSeq NM_172561.3) ENSMUST00000018431.1 ENSMUST00000018431.10 ENSMUST00000018431.11 ENSMUST00000018431.12 ENSMUST00000018431.2 ENSMUST00000018431.3 ENSMUST00000018431.4 ENSMUST00000018431.5 ENSMUST00000018431.6 ENSMUST00000018431.7 ENSMUST00000018431.8 ENSMUST00000018431.9 NM_172561 Q3TM27 Q7TNE3 Q80XJ8 Q8BK16 SPAG7_MOUSE uc007jvz.1 uc007jvz.2 uc007jvz.3 uc007jvz.4 Nucleus molecular_function nucleic acid binding nucleus biological_process uc007jvz.1 uc007jvz.2 uc007jvz.3 uc007jvz.4 
ENSMUST00000018437.3 Pfn1 ENSMUST00000018437.3 profilin 1 (from RefSeq NM_011072.4) ENSMUST00000018437.1 ENSMUST00000018437.2 NM_011072 Pfn1 Q5SX50 Q5SX50_MOUSE uc007jvv.1 uc007jvv.2 uc007jvv.3 uc007jvv.4 Belongs to the profilin family. adenyl-nucleotide exchange factor activity actin binding actin monomer binding receptor binding phosphatidylinositol-4,5-bisphosphate binding nucleus cytoplasm cell cortex response to organic substance positive regulation of epithelial cell migration actin cytoskeleton organization negative regulation of actin filament polymerization positive regulation of actin filament polymerization negative regulation of actin filament bundle assembly positive regulation of ATPase activity neuron projection synapse positive regulation of transcription from RNA polymerase II promoter positive regulation of viral transcription protein stabilization positive regulation of DNA metabolic process positive regulation of stress fiber assembly negative regulation of stress fiber assembly proline-rich region binding cellular response to growth factor stimulus presynapse postsynapse positive regulation of ruffle assembly uc007jvv.1 uc007jvv.2 uc007jvv.3 uc007jvv.4 
ENSMUST00000018449.11 Prpf8 ENSMUST00000018449.11 pre-mRNA processing factor 8 (from RefSeq NM_138659.2) A5D6Q4 ENSMUST00000018449.1 ENSMUST00000018449.10 ENSMUST00000018449.2 ENSMUST00000018449.3 ENSMUST00000018449.4 ENSMUST00000018449.5 ENSMUST00000018449.6 ENSMUST00000018449.7 ENSMUST00000018449.8 ENSMUST00000018449.9 NM_138659 PRP8_MOUSE Prp8 Q5ND30 Q5ND31 Q7TQK2 Q8BRZ5 Q8K001 Q99PV0 uc007kdx.1 uc007kdx.2 uc007kdx.3 Plays a role in pre-mRNA splicing as core component of precatalytic, catalytic and postcatalytic spliceosomal complexes, both of the predominant U2-type spliceosome and the minor U12-type spliceosome. Functions as a scaffold that mediates the ordered assembly of spliceosomal proteins and snRNAs. Required for the assembly of the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome. Functions as a scaffold that positions spliceosomal U2, U5 and U6 snRNAs at splice sites on pre-mRNA substrates, so that splicing can occur. Interacts with both the 5' and the 3' splice site. Part of the U5 snRNP complex (By similarity). Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39 (By similarity). Component of the U5.U4atac/U6atac snRNP complexes in U12-dependent spliceosomes (By similarity). Within the minor spliceosome, which acts on U12-type introns, interacts with PPIL2 and RBM48 (By similarity). Core component of U2-type precatalytic, catalytic and postcatalytic spliceosomal complexes (By similarity). Found in a mRNA splicing- dependent exon junction complex (EJC) with SRRM1 (By similarity). Interacts with U5 snRNP proteins SNRP116 and SNRNP40 (By similarity). Interacts with EFTUD2 (By similarity). Interacts (via the MPN (JAB/Mov34) domain) with PRPF3 ('Lys-63'-linked polyubiquitinated); may stabilize the U4/U6-U5 tri-snRNP complex (By similarity). Interacts (via RNase H homology domain) with AAR2 (By similarity). Interacts with RPAP3 and URI1 in a ZNHIT2-dependent manner (By similarity). Interacts with C9orf78 (By similarity). Interacts with SNRNP200 (By similarity). Interacts with TSSC4; the interaction is direct (By similarity). Nucleus Nucleus speckle Strongly expressed in testis (preferentially in the outer cell layer), and moderately in ovary (preferentially in granulosa cells). During embryogenesis, is highly expressed at day 9.5 of gestation, and its expression decreases progressively during embryogenesis. The MPN (JAB/Mov34) domain has structural similarity with deubiquitinating enzymes, but lacks the residues that would bind the catalytic metal ion. Contains a region with structural similarity to reverse transcripase, presenting the classical thumb, fingers and palm architecture, but lacks enzyme activity, since the essential metal- binding residues are not conserved. Contains a region with structural similarity to type-2 restriction endonucleases, but the residues that would bind catalytic metal ions in endonucleases are instead involved in hydrogen bonds that stabilize the protein structure. Contains a region with structural similarity to RNase H, but lacks RNase H activity. The MPN (JAB/Mov34) domain mediates interaction with TSSC4 and SNRNP200. Has structural similarity with deubiquitinating enzymes, but lacks the residues that would bind the catalytic metal ion. Sequence=AAH54103.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; spliceosomal tri-snRNP complex assembly second spliceosomal transesterification activity mRNA splicing, via spliceosome RNA binding nucleus spliceosomal complex U5 snRNP mRNA processing RNA splicing nuclear speck U6 snRNA binding small nuclear ribonucleoprotein complex U1 snRNA binding U2 snRNA binding U5 snRNA binding U4/U6 x U5 tri-snRNP complex K63-linked polyubiquitin binding U2-type precatalytic spliceosome U2-type catalytic step 1 spliceosome U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome cellular response to lipopolysaccharide cellular response to tumor necrosis factor pre-mRNA intronic binding uc007kdx.1 uc007kdx.2 uc007kdx.3 
ENSMUST00000018470.10 Ywhab ENSMUST00000018470.10 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide, transcript variant 5 (from RefSeq NR_184744.1) 1433B_MOUSE ENSMUST00000018470.1 ENSMUST00000018470.2 ENSMUST00000018470.3 ENSMUST00000018470.4 ENSMUST00000018470.5 ENSMUST00000018470.6 ENSMUST00000018470.7 ENSMUST00000018470.8 ENSMUST00000018470.9 NR_184744 O70455 Q3TY33 Q3UAN6 Q9CQV8 uc008ntp.1 uc008ntp.2 uc008ntp.3 Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negative regulator of osteogenesis. Blocks the nuclear translocation of the phosphorylated form (by AKT1) of SRPK2 and antagonizes its stimulatory effect on cyclin D1 expression resulting in blockage of neuronal apoptosis elicited by SRPK2. Negative regulator of signaling cascades that mediate activation of MAP kinases via AKAP13. Homodimer (By similarity). Interacts with SAMSN1 and PRKCE (PubMed:18604201, PubMed:20478393). Interacts with AKAP13. Interacts with SSH1 and TORC2/CRTC2. Interacts with ABL1; the interaction results in cytoplasmic location of ABL1 and inhibition of cABL-mediated apoptosis. Interacts with ROR2 (dimer); the interaction results in phosphorylation of YWHAB on tyrosine residues. Interacts with GAB2. Interacts with YAP1 (phosphorylated form). Interacts with the phosphorylated (by AKT1) form of SRPK2. Interacts with PKA- phosphorylated AANAT. Interacts with MYO1C. Interacts with SIRT2 (By similarity). Interacts with the 'Thr-369' phosphorylated form of DAPK2 (PubMed:26047703). Interacts with PI4KB, TBC1D22A and TBC1D22B. Interacts with the 'Ser-1134' and 'Ser-1161' phosphorylated form of SOS1 (By similarity). Interacts (via phosphorylated form) with YWHAB; this interaction occurs in a protein kinase AKT1-dependent manner (By similarity). Interacts with SLITRK1 (By similarity). Interacts with SYNPO2 (phosphorylated form); YWHAB competes with ACTN2 for interaction with SYNPO2 (PubMed:15883195). Interacts with RIPOR2 (via phosphorylated form); this interaction occurs in a chemokine-dependent manner and does not compete for binding of RIPOR2 with RHOA nor blocks inhibition of RIPOR2-mediated RHOA activity (By similarity). Interacts with MARK2 and MARK3 (By similarity). Interacts with TESK1; the interaction is dependent on the phosphorylation of TESK1 'Ser-439' and inhibits TESK1 kinase activity (By similarity). Interacts with MEFV (By similarity). Interacts with HDAC4 (By similarity). Interacts with ADAM22 (via C-terminus) (By similarity). Q9CQV8; Q5S006: Lrrk2; NbExp=6; IntAct=EBI-771608, EBI-2693710; Q9CQV8; P16054: Prkce; NbExp=5; IntAct=EBI-771608, EBI-298451; Q9CQV8; Q91YE8: Synpo2; NbExp=3; IntAct=EBI-771608, EBI-7623057; Cytoplasm Melanosome Event=Alternative initiation; Named isoforms=2; Name=Long; IsoId=Q9CQV8-1; Sequence=Displayed; Name=Short; IsoId=Q9CQV8-2; Sequence=VSP_018634; Isoform alpha differs from isoform beta in being phosphorylated (By similarity). Phosphorylated on Ser-60 by protein kinase C delta type catalytic subunit in a sphingosine-dependent fashion. Isoform Short contains a N-acetylmethionine at position 1. Belongs to the 14-3-3 family. protein binding nucleus cytoplasm cytosol protein targeting protein C-terminus binding transcriptional repressor complex enzyme binding protein domain specific binding macromolecular complex negative regulation of protein dephosphorylation melanosome identical protein binding histone deacetylase binding positive regulation of catalytic activity macromolecular complex binding negative regulation of G-protein coupled receptor protein signaling pathway negative regulation of transcription, DNA-templated perinuclear region of cytoplasm phosphoserine binding phosphoprotein binding cytoplasmic sequestering of protein protein heterooligomerization uc008ntp.1 uc008ntp.2 uc008ntp.3 
ENSMUST00000018476.14 Stk3 ENSMUST00000018476.14 serine/threonine kinase 3, transcript variant 1 (from RefSeq NM_019635.2) ENSMUST00000018476.1 ENSMUST00000018476.10 ENSMUST00000018476.11 ENSMUST00000018476.12 ENSMUST00000018476.13 ENSMUST00000018476.2 ENSMUST00000018476.3 ENSMUST00000018476.4 ENSMUST00000018476.5 ENSMUST00000018476.6 ENSMUST00000018476.7 ENSMUST00000018476.8 ENSMUST00000018476.9 Mess1 Mst2 NM_019635 Q60877 Q80UG4 Q8CI58 Q9JI10 STK3_MOUSE uc007vlz.1 uc007vlz.2 uc007vlz.3 Stress-activated, pro-apoptotic kinase which, following caspase-cleavage, enters the nucleus and induces chromatin condensation followed by internucleosomal DNA fragmentation. Key component of the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. STK3/MST2 and STK4/MST1 are required to repress proliferation of mature hepatocytes, to prevent activation of facultative adult liver stem cells (oval cells), and to inhibit tumor formation. Phosphorylates NKX2-1. Phosphorylates NEK2 and plays a role in centrosome disjunction by regulating the localization of NEK2 to centrosomes, and its ability to phosphorylate CROCC and CEP250. In conjunction with SAV1, activates the transcriptional activity of ESR1 through the modulation of its phosphorylation. Positively regulates RAF1 activation via suppression of the inhibitory phosphorylation of RAF1 on 'Ser-259'. Phosphorylates MOBKL1A and RASSF2. Phosphorylates MOBKL1B on 'Thr-74'. Acts cooperatively with MOBKL1B to activate STK38 (By similarity). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Inhibited by the C-terminal non-catalytic region. Activated by caspase-cleavage. Full activation also requires homodimerization and autophosphorylation of Thr-180, which are inhibited by the proto-oncogene product RAF1. Activated by RASSF1 which acts by preventing its dephosphorylation (By similarity). Homodimer; mediated via the coiled-coil region. Interacts with NORE1, which inhibits autoactivation. Interacts with and stabilizes SAV1. Interacts with RAF1, which prevents dimerization and phosphorylation. Interacts with RASSF1. Interacts (via SARAH domain) with NEK2. Interacts with ESR1 only in the presence of SAV1. Interacts with PKB/AKT1. Forms a tripartite complex with MOBKL1B and STK38. Interacts with RASSF2 (via SARAH domain). Interacts with LATS1; this interaction is inhibited in the presence of DLG5. Interacts with MARK3 in the presence of DLG5 (By similarity). Interacts with DLG5 (via PDZ domain 3) (PubMed:28087714). Interacts with RASSF5; this interaction inhibits STK3 autoactivation through heterodimerization (By similarity). Cytoplasm Nucleus Note=The caspase-cleaved form cycles between nucleus and cytoplasm (By similarity). Phosphorylation at Thr- 117 leads to inhibition of nuclear translocation (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9JI10-1; Sequence=Displayed; Name=2; IsoId=Q9JI10-2; Sequence=VSP_020047; Autophosphorylated on two residues Thr-174 and Thr-180, leading to activation. Phosphorylation at Thr-117 and Thr-390 by PKB/AKT1, leads to inhibition of its: cleavage, kinase activity, autophosphorylation at Thr-180, binding to RASSF1 and nuclear translocation, and increase in its binding to RAF1. Phosphorylated at Ser-15 by PLK1, leading to activation. Proteolytically cleaved by caspase-3 during apoptosis. Proteolytic cleavage results in kinase activation and nuclear translocation of the truncated form (MST1/N). Ubiquitinated by TRIM69; leading to its redistribution to the perinuclear cytoskeleton. Mice show progressive hepatomegaly with a 2-fold increase in liver mass relative to total body mass at 1 month of age and a 3-fold increase by 3 months of age. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Sequence=AAA75300.1; Type=Frameshift; Evidence=; nucleotide binding magnesium ion binding neural tube formation endocardium development protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus cytoplasm protein phosphorylation apoptotic process signal transduction central nervous system development negative regulation of cell proliferation kinase activity phosphorylation transferase activity signal transduction by protein phosphorylation positive regulation of protein binding activation of protein kinase activity macromolecular complex hippo signaling intracellular signal transduction identical protein binding positive regulation of apoptotic process positive regulation of fat cell differentiation positive regulation of JNK cascade negative regulation of organ growth metal ion binding protein dimerization activity neuron projection morphogenesis protein stabilization positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of protein kinase B signaling primitive hemopoiesis cell differentiation involved in embryonic placenta development regulation of cell differentiation involved in embryonic placenta development negative regulation of canonical Wnt signaling pathway hepatocyte apoptotic process positive regulation of extrinsic apoptotic signaling pathway via death domain receptors uc007vlz.1 uc007vlz.2 uc007vlz.3 
ENSMUST00000018478.11 Ksr1 ENSMUST00000018478.11 kinase suppressor of ras 1, transcript variant 1 (from RefSeq NM_013571.3) ENSMUST00000018478.1 ENSMUST00000018478.10 ENSMUST00000018478.2 ENSMUST00000018478.3 ENSMUST00000018478.4 ENSMUST00000018478.5 ENSMUST00000018478.6 ENSMUST00000018478.7 ENSMUST00000018478.8 ENSMUST00000018478.9 KSR1_MOUSE Ksr NM_013571 Q61097 Q61648 Q78DX8 uc033fyp.1 uc033fyp.2 uc033fyp.3 Part of a multiprotein signaling complex which promotes phosphorylation of Raf family members and activation of downstream MAP kinases (PubMed:10409742, PubMed:12932319, PubMed:21102438, PubMed:21441104). Independently of its kinase activity, acts as MAP2K1/MEK1 and MAP2K2/MEK2-dependent allosteric activator of BRAF; upon binding to MAP2K1/MEK1 or MAP2K2/MEK2, dimerizes with BRAF and promotes BRAF-mediated phosphorylation of MAP2K1/MEK1 and/or MAP2K2/MEK2 (By similarity). Promotes activation of MAPK1 and/or MAPK3, both in response to EGF and to cAMP (PubMed:21102438). Its kinase activity is unsure (PubMed:21441104). Some protein kinase activity has been detected in vitro, however the physiological relevance of this activity is unknown (PubMed:21441104). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Homodimer (By similarity). Heterodimerizes (via N-terminus) with BRAF (via N-terminus) in a MAP2K1/MEK1 or MAP2K2/MEK2-dependent manner (By similarity). Interacts with MAP2K1/MEK1 and MAP2K2/MEK2 (PubMed:10891492, PubMed:10409742, PubMed:21441104). Binding to MAP2K1/MEK1 releases the intramolecular inhibitory interaction between KSR1 N-terminus and kinase domains which is required for the subsequent RSK1 dimerization with BRAF (By similarity). Identified in a complex with AKAP13, MAP2K1 and BRAF (PubMed:21102438, PubMed:23250398). Interacts with AKAP13 and BRAF (PubMed:21102438). Interacts with RAF and MAPK/ERK, in a Ras-dependent manner (PubMed:10891492). Interacts with 14-3-3 proteins including YWHAB (PubMed:10409742, PubMed:11741534). Interacts with HSP90AA1/HSP90, YWHAE/14-3-3 and CDC37 (PubMed:10409742). The binding of 14-3-3 proteins to phosphorylated KSR1 prevents the membrane localization (PubMed:10409742). Interacts with MARK3/C-TAK1 (PubMed:11741534, PubMed:12941695). Interacts with PPP2R1A and PPP2CA (PubMed:12932319). Interacts with VRK2 (By similarity). Q61097; Q60875: Arhgef2; NbExp=5; IntAct=EBI-1536336, EBI-772191; Q61097; P15056: BRAF; Xeno; NbExp=3; IntAct=EBI-1536336, EBI-365980; Q61097; P15531: NME1; Xeno; NbExp=7; IntAct=EBI-1536336, EBI-741141; Q61097; Q86Y07-1: VRK2; Xeno; NbExp=8; IntAct=EBI-1536336, EBI-1207633; Cytoplasm mbrane ; Peripheral membrane protein Cell membrane eripheral membrane protein ll projection, ruffle membrane Endoplasmic reticulum membrane Note=In unstimulated cells, where the phosphorylated form is bound to a 14-3-3 protein, sequestration in the cytoplasm occurs. Following growth factor treatment, the protein is free for membrane translocation, and it moves from the cytoplasm to the cell periphery. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q61097-1; Sequence=Displayed; Name=2; Synonyms=B-KSR1; IsoId=Q61097-2; Sequence=VSP_012232, VSP_012233; Expressed in brain, spleen and testis. Isoform 1 is highly expressed spleen and weakly in testis, and isoform 2 is highly expressed in brain and weakly in testis. The protein kinase domain is predicted to be catalytically inactive. The domain is sufficient for KSR1 and KSR1-mediated MAP2K1 and MAP2K2 membrane localization. The domain is required but not sufficient for MAP kinase-mediated inhibition of ELK1 phosphorylation (PubMed:10409742). The N-terminal region mediates interaction with BRAF (PubMed:23250398). Also mediates membrane localization (PubMed:23250398). Phosphorylated on Ser-297 and, to a higher extent, on Ser-392 by MARK3 (PubMed:11741534, PubMed:12941695). Dephosphorylated on Ser-392 by PPP2CA (PubMed:12932319). Phosphorylated KSR1 is cytoplasmic and dephosphorylated KSR1 is membrane-associated (Probable). Phosphorylated by PKA at Ser-838. Phosphorylation at Ser-838 is required for cAMP- dependent activation of MAPK1 and/or MAPK3 (PubMed:21102438). Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Although it belongs to the protein kinase superfamily, the ATP-binding motif VAIK has an arginine instead of a lysine residue suggesting that KSR1 cannot bind ATP and therefore lacks protein kinase activity. However, KSR1 is capable of binding ATP (PubMed:21441104). Has protein kinase activity towards MAP2K1 in presence of RAF1/c-RAF in vitro (PubMed:21441104). activation of MAPKKK activity protein kinase activity MAP-kinase scaffold activity protein binding ATP binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane plasma membrane protein phosphorylation Ras protein signal transduction protein C-terminus binding membrane protein kinase binding cAMP-mediated signaling mitogen-activated protein kinase kinase binding ruffle membrane macromolecular complex intracellular signal transduction regulation of cell proliferation cell projection regulation of MAP kinase activity positive regulation of MAPK cascade metal ion binding protein heterodimerization activity chaperone binding Hsp90 protein binding 14-3-3 protein binding uc033fyp.1 uc033fyp.2 uc033fyp.3 
ENSMUST00000018485.4 Il12rb2 ENSMUST00000018485.4 interleukin 12 receptor, beta 2, transcript variant 1 (from RefSeq NM_008354.4) B9EHD9 ENSMUST00000018485.1 ENSMUST00000018485.2 ENSMUST00000018485.3 I12R2_MOUSE NM_008354 P97378 uc009cfo.1 uc009cfo.2 uc009cfo.3 Receptor for interleukin-12. This subunit is the signaling component coupling to the JAK2/STAT4 pathway. Promotes the proliferation of T-cells as well as NK cells. Induces the promotion of T-cells towards the Th1 phenotype by strongly enhancing IFN-gamma production. Can also activate STAT3. Heterodimer/heterooligomer; disulfide-linked. The functional high affinity IL12 receptor is composed of I12RB1 and IL12RB2. Il12RB2 binds JAK2 (via its N-terminal) through a membrane-proximal region of the cytoplasmic domain (By similarity). P97378; Q99KY4: Gak; NbExp=7; IntAct=EBI-6253448, EBI-7652906; Membrane; Single-pass type I membrane protein. Expressed in developing T-helper (TH) cells. Expressed at high levels in Th1 cells on day 3, 5 and 7 after primary activation. Very low expression in Th2 cells on day 3 and not detectable on day 5 nor day 7 after activation. Following T-cell activation, expression inhibited by IL4 and induced by IFN gamma. The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding. The box 1 motif is required for JAK interaction and/or activation. On IL12 stimulation, phosphorylated on C-terminal tyrosine residues. Phosphorylation of any one of Tyr-757, Tyr-804 or Tyr-811 can activate STAT4, IFN-gamma production, and T-cell proliferation. Tyr-811 is the dominant site of cell proliferation. Lps-defective mice C57BL/10ScCr (Cr) mice carry a mutation in the IL12RB2 gene leading to the production of a truncated IL12 receptor beta 2 chain resulting in malfunction of the IL12- mediated IFN-gamma response. Belongs to the type I cytokine receptor family. Type 2 subfamily. cytokine receptor activity protein binding plasma membrane external side of plasma membrane membrane integral component of membrane peptidyl-tyrosine phosphorylation cytokine-mediated signaling pathway protein kinase binding cytokine binding response to lipopolysaccharide interferon-gamma production positive regulation of interferon-gamma production response to cytokine receptor complex uc009cfo.1 uc009cfo.2 uc009cfo.3 
ENSMUST00000018506.13 Kpna2 ENSMUST00000018506.13 karyopherin subunit alpha 2 (from RefSeq NM_010655.3) ENSMUST00000018506.1 ENSMUST00000018506.10 ENSMUST00000018506.11 ENSMUST00000018506.12 ENSMUST00000018506.2 ENSMUST00000018506.3 ENSMUST00000018506.4 ENSMUST00000018506.5 ENSMUST00000018506.6 ENSMUST00000018506.7 ENSMUST00000018506.8 ENSMUST00000018506.9 Kpna2 NM_010655 Q52L97 Q52L97_MOUSE uc007lzz.1 uc007lzz.2 uc007lzz.3 Functions in nuclear protein import. Belongs to the importin alpha family. nucleus cytoplasm protein import into nucleus protein transport nuclear import signal receptor activity uc007lzz.1 uc007lzz.2 uc007lzz.3 
ENSMUST00000018516.11 Cep95 ENSMUST00000018516.11 centrosomal protein 95, transcript variant 1 (from RefSeq NM_177088.3) A2A5Z8 CEP95_MOUSE Ccdc45 ENSMUST00000018516.1 ENSMUST00000018516.10 ENSMUST00000018516.2 ENSMUST00000018516.3 ENSMUST00000018516.4 ENSMUST00000018516.5 ENSMUST00000018516.6 ENSMUST00000018516.7 ENSMUST00000018516.8 ENSMUST00000018516.9 NM_177088 Q8BVV7 uc007lzu.1 uc007lzu.2 uc007lzu.3 uc007lzu.4 Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle pole spindle pole molecular_function cytoplasm centrosome microtubule organizing center cytoskeleton biological_process uc007lzu.1 uc007lzu.2 uc007lzu.3 uc007lzu.4 
ENSMUST00000018521.11 Vezf1 ENSMUST00000018521.11 vascular endothelial zinc finger 1, transcript variant 1 (from RefSeq NM_016686.5) ENSMUST00000018521.1 ENSMUST00000018521.10 ENSMUST00000018521.2 ENSMUST00000018521.3 ENSMUST00000018521.4 ENSMUST00000018521.5 ENSMUST00000018521.6 ENSMUST00000018521.7 ENSMUST00000018521.8 ENSMUST00000018521.9 NM_016686 Q5SXC4 Q5SXC4_MOUSE Vezf1 uc007kvf.1 uc007kvf.2 uc007kvf.3 RNA polymerase II regulatory region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding angiogenesis endothelial cell development nucleic acid binding nucleus nucleoplasm positive regulation of endothelial cell differentiation positive regulation of transcription from RNA polymerase II promoter uc007kvf.1 uc007kvf.2 uc007kvf.3 
ENSMUST00000018522.13 Cuedc1 ENSMUST00000018522.13 CUE domain containing 1, transcript variant 1 (from RefSeq NM_198013.3) CUED1_MOUSE ENSMUST00000018522.1 ENSMUST00000018522.10 ENSMUST00000018522.11 ENSMUST00000018522.12 ENSMUST00000018522.2 ENSMUST00000018522.3 ENSMUST00000018522.4 ENSMUST00000018522.5 ENSMUST00000018522.6 ENSMUST00000018522.7 ENSMUST00000018522.8 ENSMUST00000018522.9 NM_198013 Q5SXC2 Q8R3V6 uc007kvh.1 uc007kvh.2 uc007kvh.3 molecular_function cellular_component biological_process uc007kvh.1 uc007kvh.2 uc007kvh.3 
ENSMUST00000018549.8 Mrm1 ENSMUST00000018549.8 mitochondrial rRNA methyltransferase 1 (from RefSeq NM_145433.1) ENSMUST00000018549.1 ENSMUST00000018549.2 ENSMUST00000018549.3 ENSMUST00000018549.4 ENSMUST00000018549.5 ENSMUST00000018549.6 ENSMUST00000018549.7 MRM1_MOUSE Mrm1 NM_145433 Q3TPX8 Q3U0Z5 Q5ND22 Q99J25 uc007kqr.1 uc007kqr.2 S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methylguanosine at position 1145 (Gm1145) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA. Reaction=guanosine(1145) in 16S rRNA + S-adenosyl-L-methionine = 2'-O- methylguanosine(1145) in 16S rRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:47776, Rhea:RHEA-COMP:11909, Rhea:RHEA-COMP:11910, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74269, ChEBI:CHEBI:74445; Evidence=; Mitochondrion matrix Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase TrmH family. Sequence=BAE33706.1; Type=Frameshift; Evidence=; rRNA 2'-O-methylation RNA methylation RNA binding mitochondrion rRNA processing RNA processing methyltransferase activity RNA methyltransferase activity transferase activity methylation rRNA (guanosine-2'-O-)-methyltransferase activity uc007kqr.1 uc007kqr.2 
ENSMUST00000018561.14 Myo1b ENSMUST00000018561.14 myosin IB, transcript variant 5 (from RefSeq NM_001420363.1) ENSMUST00000018561.1 ENSMUST00000018561.10 ENSMUST00000018561.11 ENSMUST00000018561.12 ENSMUST00000018561.13 ENSMUST00000018561.2 ENSMUST00000018561.3 ENSMUST00000018561.4 ENSMUST00000018561.5 ENSMUST00000018561.6 ENSMUST00000018561.7 ENSMUST00000018561.8 ENSMUST00000018561.9 Myo1b NM_001420363 Q7TQD7 Q7TQD7_MOUSE uc007axs.1 uc007axs.2 uc007axs.3 uc007axs.4 uc007axs.5 Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. microfilament motor activity nucleotide binding motor activity actin binding ATP binding phosphatidylinositol-4,5-bisphosphate binding phosphatidylinositol-3,4,5-trisphosphate binding cytoplasm early endosome actin filament plasma membrane brush border post-Golgi vesicle-mediated transport actin filament organization endosome membrane myosin complex actin filament-based movement filopodium actin-dependent ATPase activity trans-Golgi network membrane apical part of cell perinuclear region of cytoplasm actin filament binding actin filament bundle assembly cell periphery uc007axs.1 uc007axs.2 uc007axs.3 uc007axs.4 uc007axs.5 
ENSMUST00000018568.4 Drg2 ENSMUST00000018568.4 developmentally regulated GTP binding protein 2, transcript variant 2 (from RefSeq NR_184453.1) DRG2_MOUSE ENSMUST00000018568.1 ENSMUST00000018568.2 ENSMUST00000018568.3 NR_184453 Q5SX94 Q9QXB9 uc007jfy.1 uc007jfy.2 uc007jfy.3 Catalyzes the conversion of GTP to GDP through hydrolysis of the gamma-phosphate bond in GTP. When hydroxylated at C-3 of 'Lys-21' by JMJD7, may bind to RNA and play a role in translation. Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Interacts with RWDD1; this interaction confers protection to polyubiquitination and proteolytic degradation (PubMed:15676025). Interacts with JMJD7; this interaction is direct (By similarity). Nucleus Cytoplasm Fairly high levels in liver, heart, kidney, and brain. Very low levels in lung, spleen, testis and skeletal muscle. Polyubiquitinated. Hydroxylated (with S stereochemistry) at C-3 of Lys-21 by JMJD7. Belongs to the TRAFAC class OBG-HflX-like GTPase superfamily. OBG GTPase family. nucleotide binding cytoplasmic translation RNA binding GTPase activity GTP binding nucleus nucleoplasm cytoplasm mitochondrion cytosol hydrolase activity intracellular membrane-bounded organelle metal ion binding uc007jfy.1 uc007jfy.2 uc007jfy.3 
ENSMUST00000018569.14 Dhx40 ENSMUST00000018569.14 DEAH-box helicase 40 (from RefSeq NM_026191.2) DHX40_MOUSE ENSMUST00000018569.1 ENSMUST00000018569.10 ENSMUST00000018569.11 ENSMUST00000018569.12 ENSMUST00000018569.13 ENSMUST00000018569.2 ENSMUST00000018569.3 ENSMUST00000018569.4 ENSMUST00000018569.5 ENSMUST00000018569.6 ENSMUST00000018569.7 ENSMUST00000018569.8 ENSMUST00000018569.9 NM_026191 Q6PE54 Q8BPH2 Q8CD88 Q9CWN3 uc007ktc.1 uc007ktc.2 uc007ktc.3 Probable ATP-dependent RNA helicase. Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Belongs to the DEAD box helicase family. DEAH subfamily. Sequence=AAH58276.2; Type=Erroneous initiation; Evidence=; Sequence=BAB26995.2; Type=Erroneous initiation; Evidence=; Sequence=BAC25091.1; Type=Frameshift; Evidence=; Sequence=BAC27210.1; Type=Frameshift; Evidence=; Sequence=BAC36102.1; Type=Frameshift; Evidence=; nucleotide binding mRNA splicing, via spliceosome nucleic acid binding RNA binding RNA helicase activity helicase activity ATP binding hydrolase activity uc007ktc.1 uc007ktc.2 uc007ktc.3 
ENSMUST00000018571.5 Ypel2 ENSMUST00000018571.5 yippee like 2 (from RefSeq NM_001005341.3) ENSMUST00000018571.1 ENSMUST00000018571.2 ENSMUST00000018571.3 ENSMUST00000018571.4 NM_001005341 Q65Z95 YPEL2_MOUSE uc007ktd.1 uc007ktd.2 uc007ktd.3 May interact with FAM168B. Nucleus, nucleolus Detected in testis, heart, brain, spleen, lung and liver. Belongs to the yippee family. molecular_function cellular_component nucleus nucleolus biological_process metal ion binding uc007ktd.1 uc007ktd.2 uc007ktd.3 
ENSMUST00000018572.11 Akap1 ENSMUST00000018572.11 A kinase anchor protein 1, transcript variant 2 (from RefSeq NM_001042541.1) AKAP1_MOUSE Akap Akap1 B1AR25 ENSMUST00000018572.1 ENSMUST00000018572.10 ENSMUST00000018572.2 ENSMUST00000018572.3 ENSMUST00000018572.4 ENSMUST00000018572.5 ENSMUST00000018572.6 ENSMUST00000018572.7 ENSMUST00000018572.8 ENSMUST00000018572.9 NM_001042541 O08714 O08715 P97488 uc007kvw.1 uc007kvw.2 Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A (PubMed:9065479, PubMed:9182549). Anchors them to the cytoplasmic face of the mitochondrial outer membrane or allows them to reside in the endoplasmic reticulum (PubMed:9065479, PubMed:9182549). Involved in mitochondrial-mediated antiviral innate immunity (By similarity). Promotes translocation of NDUFS1 into mitochondria to regulate mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) activity (PubMed:32072193). Under diabetic conditions, myocardial AKAP1 expression decreases which blocks the translocation of NDUFS1 from the cytosol to mitochondria (PubMed:32072193). Reduction of NDUFS1 in mitochondria decreases ATP production and increases mitochondrial ROS level, which causes mitochondrial dysfunction and cell apoptosis, respectively, thereby leading to cardiac dysfunction (PubMed:32072193). Interacts with SLC8A3 (PubMed:24101730). Interacts with CFAP91. Interacts with CLPB (By similarity). Interacts with NDUFS1 (PubMed:32072193). O08715; Q06986: Siah2; NbExp=6; IntAct=EBI-7838029, EBI-957413; O08715-5; Q16825: PTPN21; Xeno; NbExp=2; IntAct=EBI-9117988, EBI-2860264; Mitochondrion outer membrane Mitochondrion [Isoform 2]: Endoplasmic reticulum Note=Does not contain the classic KDEL endoplasmic reticulum-targeting sequence. This explains how it is able to switch its localization, either being in the endoplasmic reticulum or in the mitochondria depending on which N-terminal part begins the isoform. The longest N-terminal part only present in isoform 2 acts as a suppressor of mitochondrial targeting and as an activator of recessive endoplasmic reticulum targeting motif. [Isoform 4]: Endoplasmic reticulum Note=Does not contain the classic KDEL endoplasmic reticulum-targeting sequence. This explains how it is able to switch its localization, either being in the endoplasmic reticulum or in the mitochondria depending on which N-terminal part begins the isoform. The longest N-terminal part only present in isoform 4 acts as a suppressor of mitochondrial targeting and as an activator of recessive endoplasmic reticulum targeting motif. [Isoform 1]: Mitochondrion outer membrane Note=Does not contain the classic KDEL endoplasmic reticulum-targeting sequence. This explains how it is able to switch its localization, either being in the endoplasmic reticulum or in the mitochondria depending on which N-terminal part begins the isoform. [Isoform 3]: Mitochondrion outer membrane Note=Does not contain the classic KDEL endoplasmic reticulum-targeting sequence. This explains how it is able to switch its localization, either being in the endoplasmic reticulum or in the mitochondria depending on which N-terminal part begins the isoform. [Isoform 5]: Mitochondrion outer membrane Note=Does not contain the classic KDEL endoplasmic reticulum-targeting sequence. This explains how it is able to switch its localization, either being in the endoplasmic reticulum or in the mitochondria depending on which N-terminal part begins the isoform. [Isoform 6]: Mitochondrion outer membrane Note=Does not contain the classic KDEL endoplasmic reticulum-targeting sequence. This explains how it is able to switch its localization, either being in the endoplasmic reticulum or in the mitochondria depending on which N-terminal part begins the isoform. Event=Alternative splicing; Named isoforms=6; Name=3; Synonyms=D-AKAP1C, AKAP121; IsoId=O08715-1; Sequence=Displayed; Name=1; Synonyms=D-AKAP1A; IsoId=O08715-2; Sequence=VSP_002848, VSP_002849; Name=2; Synonyms=D-AKAP1B; IsoId=O08715-3; Sequence=VSP_002847, VSP_002848, VSP_002849; Name=4; Synonyms=D-AKAP1D; IsoId=O08715-4; Sequence=VSP_002847; Name=5; Synonyms=S-AKAP84; IsoId=O08715-5; Sequence=VSP_002850, VSP_002851; Name=6; Synonyms=AKAP100; IsoId=O08715-6; Sequence=VSP_002852, VSP_002853; Highest expression in testis, heart, liver, skeletal muscle, intestine and kidney, followed by brain and lung. No expression in spleen. Isoform 1/D-AKAP1A is expressed predominantly in testis whereas isoform 4/D-AKAP1D is expressed primarily in liver (PubMed:9065479). Expression is decreased in hearts of diabetic mice (at protein level) (PubMed:32072193). RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer. Knockout in diabetogenic agent streptozotocin- treated mice results in significant cardiac dysfunction which is accompanied by impaired mitochondrial function and increased cardiomyocyte apoptosis. nucleic acid binding RNA binding protein binding mitochondrion mitochondrial outer membrane endoplasmic reticulum lipid particle microtubule binding negative regulation of cardiac muscle hypertrophy regulation of protein kinase A signaling membrane integral component of membrane protein kinase binding protein phosphatase binding mitochondrial crista protein phosphatase 2B binding neuromuscular junction protein kinase A regulatory subunit binding negative regulation of protein dephosphorylation negative regulation of protein import into nucleus postsynaptic membrane beta-tubulin binding binding, bridging uc007kvw.1 uc007kvw.2 
ENSMUST00000018577.8 Nol11 ENSMUST00000018577.8 nucleolar protein 11, transcript variant 4 (from RefSeq NR_156439.1) ENSMUST00000018577.1 ENSMUST00000018577.2 ENSMUST00000018577.3 ENSMUST00000018577.4 ENSMUST00000018577.5 ENSMUST00000018577.6 ENSMUST00000018577.7 NOL11_MOUSE NR_156439 Q8BGJ1 Q8BJW5 Q8R3Q3 Q99KA5 uc007mai.1 uc007mai.2 uc007mai.3 uc007mai.4 uc007mai.5 Ribosome biogenesis factor. May be required for both optimal rDNA transcription and small subunit (SSU) pre-rRNA processing at sites A', A0, 1 and 2b (By similarity). Interacts with UTP4. Interacts with FBL/fibrillarin in a transcription-dependent manner. May associate with the proposed t-UTP subcomplex of the SSU processome containing at least UTP4, WDR43, HEATR1, UTP15, WDR75. Nucleus, nucleolus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BJW5-1; Sequence=Displayed; Name=2; IsoId=Q8BJW5-2; Sequence=VSP_015459; [Isoform 2]: May be due to a competing acceptor splice site. nucleus nucleolus rRNA processing maturation of SSU-rRNA t-UTP complex ribosome biogenesis positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter uc007mai.1 uc007mai.2 uc007mai.3 uc007mai.4 uc007mai.5 
ENSMUST00000018593.10 Rpain ENSMUST00000018593.10 RPA interacting protein, transcript variant 5 (from RefSeq NR_156443.1) ENSMUST00000018593.1 ENSMUST00000018593.2 ENSMUST00000018593.3 ENSMUST00000018593.4 ENSMUST00000018593.5 ENSMUST00000018593.6 ENSMUST00000018593.7 ENSMUST00000018593.8 ENSMUST00000018593.9 NR_156443 Q9CWY9 RIP_MOUSE Rip uc007jxa.1 uc007jxa.2 uc007jxa.3 uc007jxa.4 Mediates the import of RPA complex into the nucleus, possibly via some interaction with importin beta. Sumoylation mediates the localization of RPA complex into the PML body of the nucleus, thereby participating in RPA function in DNA metabolism (By similarity). Interacts with the RPA1 subunit of RPA complex. Nucleus Sumoylated; required for localization in the nuclear PML body and transport of RPA complex in PML body. Upon UV irradiation and during S phase, it is desumoylated, releasing RPA complex that is translocated to sites of DNA damage. Sumoylation takes place at different Lys residues (By similarity). fibrillar center nucleus cytoplasm DNA-dependent DNA replication DNA repair DNA recombination protein import into nucleus response to UV PML body macromolecular complex binding metal ion binding uc007jxa.1 uc007jxa.2 uc007jxa.3 uc007jxa.4 
ENSMUST00000018610.7 Nos2 ENSMUST00000018610.7 nitric oxide synthase 2, inducible, transcript variant 1 (from RefSeq NM_010927.4) ENSMUST00000018610.1 ENSMUST00000018610.2 ENSMUST00000018610.3 ENSMUST00000018610.4 ENSMUST00000018610.5 ENSMUST00000018610.6 Inosl NM_010927 NOS2_MOUSE O70515 O70516 P29477 Q5SXT3 Q6P6A0 Q8R410 uc007kkc.1 uc007kkc.2 uc007kkc.3 uc007kkc.4 Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase that is inducible by a combination of lipopolysaccharide and certain cytokines. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]. Produces nitric oxide (NO) which is a messenger molecule with diverse functions throughout the body (PubMed:7503239). In macrophages, NO mediates tumoricidal and bactericidal actions. Also has nitrosylase activity and mediates cysteine S-nitrosylation of cytoplasmic target proteins such PTGS2/COX2 (PubMed:16373578). As component of the iNOS- S100A8/9 transnitrosylase complex involved in the selective inflammatory stimulus-dependent S-nitrosylation of GAPDH implicated in regulation of the GAIT complex activity and probably multiple targets including ANXA5, EZR, MSN and VIM (By similarity). Involved in inflammation, enhances the synthesis of pro-inflammatory mediators such as IL6 and IL8 (By similarity). Reaction=H(+) + 2 L-arginine + 3 NADPH + 4 O2 = 4 H2O + 2 L-citrulline + 3 NADP(+) + 2 nitric oxide; Xref=Rhea:RHEA:19897, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16480, ChEBI:CHEBI:32682, ChEBI:CHEBI:57743, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.14.13.39; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19898; Evidence=; Name=heme b; Xref=ChEBI:CHEBI:60344; Evidence= Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Note=Binds 1 FAD. ; Name=FMN; Xref=ChEBI:CHEBI:58210; Evidence=; Note=Binds 1 FMN. ; Name=(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin; Xref=ChEBI:CHEBI:59560; Evidence= Note=Tetrahydrobiopterin (BH4). May stabilize the dimeric form of the enzyme. Not stimulated by calcium/calmodulin. Aspirin inhibits expression and function of this enzyme and effects may be exerted at the level of translational/post-translational modification and directly on the catalytic activity. Homodimer (PubMed:10769116, PubMed:11669619). Interacts with NHERF1 (By similarity). Interacts with GAPDH (By similarity). Interacts with S100A8 and S100A9 to form the iNOS-S100A8/9 transnitrosylase complex (By similarity). Interacts with SPSB1, SPSB2 and SPSB4 (PubMed:20603330). Interacts with ELOC and CUL5 in the presence of SPSB1 or SPSB2 or SPSB4 (By similarity). Forms a complex with ASL, ASS1 and HSP90AA1; the complex regulates cell-autonomous L-arginine synthesis and citrulline recycling while channeling extracellular L- arginine to nitric oxide synthesis pathway. P29477; Q04207: Rela; NbExp=3; IntAct=EBI-298897, EBI-644400; Cytoplasm, cytosol Note=Localizes as discrete foci scattered throughout the cytosol and in the presence of SPSB1 and SPSB4, exhibits a more diffuse cytosolic localization. Macrophages. By treatment with endotoxins or cytokines. By lipopolysaccharides (LPS) (in vitro). Expression in the liver oscillates in a circadian manner with peak levels occurring during the late night. Polyubiquitinated; mediated by SPSB1, SPSB2 and SPSB4, leading to proteasomal degradation. Belongs to the NOS family. response to hypoxia actin binding NADPH-hemoprotein reductase activity nitric-oxide synthase activity protein binding calmodulin binding extracellular space nucleus cytoplasm peroxisome cytosol plasma membrane arginine catabolic process superoxide metabolic process nitric oxide biosynthetic process inflammatory response nitric oxide mediated signal transduction circadian rhythm beta-catenin binding cAMP-dependent protein kinase regulator activity response to bacterium response to hormone FMN binding negative regulation of gene expression vesicle membrane oxidoreductase activity peptidyl-cysteine S-nitrosylation protein kinase binding heme binding cortical cytoskeleton positive regulation of guanylate cyclase activity prostaglandin secretion response to lipopolysaccharide tetrahydrobiopterin binding arginine binding cellular response to drug regulation of cell proliferation negative regulation of protein catabolic process defense response to bacterium protein homodimerization activity cadherin binding negative regulation of blood pressure regulation of protein kinase activity metal ion binding perinuclear region of cytoplasm flavin adenine dinucleotide binding NADP binding regulation of insulin secretion nitric-oxide synthase binding positive regulation of killing of cells of other organism Hsp90 protein binding oxidation-reduction process cellular response to lipopolysaccharide cellular response to cytokine stimulus cellular response to interferon-gamma cellular response to organic cyclic compound interleukin-6 secretion interleukin-8 secretion regulation of cytokine production involved in inflammatory response ovulation from ovarian follicle uc007kkc.1 uc007kkc.2 uc007kkc.3 uc007kkc.4 
ENSMUST00000018614.3 Kcnab3 ENSMUST00000018614.3 potassium voltage-gated channel, shaker-related subfamily, beta member 3 (from RefSeq NM_010599.4) ENSMUST00000018614.1 ENSMUST00000018614.2 Kcnab3 NM_010599 Q8VD73 Q8VD73_MOUSE uc007jps.1 uc007jps.2 uc007jps.3 Cytoplasm Belongs to the shaker potassium channel beta subunit family. voltage-gated potassium channel activity cytoplasm potassium ion transport integral component of membrane potassium ion transmembrane transport uc007jps.1 uc007jps.2 uc007jps.3 
ENSMUST00000018623.4 Chct1 ENSMUST00000018623.4 CHD1 helical C-terminal domain containing 1 (from RefSeq NM_028589.1) CHCT1_MOUSE ENSMUST00000018623.1 ENSMUST00000018623.2 ENSMUST00000018623.3 NM_028589 Q5SX10 Q80ZN8 Q9D979 uc007kri.1 uc007kri.2 uc007kri.3 uc007kri.4 May play a role in regulation of apoptosis. Cytoplasm Note=Located in the cytoplasm of spermatogonia and spermatocytes. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9D979-1; Sequence=Displayed; Name=2; IsoId=Q9D979-2; Sequence=VSP_039026; Exclusively expressed in testes. The CHD1 helical C-terminal domain (CHCT) may bind DNA and nucleosomes. Sequence=AAH48674.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; molecular_function cellular_component biological_process uc007kri.1 uc007kri.2 uc007kri.3 uc007kri.4 
ENSMUST00000018625.10 Appbp2 ENSMUST00000018625.10 amyloid beta precursor protein binding protein 2 (from RefSeq NM_025825.3) APBP2_MOUSE Appbp2 ENSMUST00000018625.1 ENSMUST00000018625.2 ENSMUST00000018625.3 ENSMUST00000018625.4 ENSMUST00000018625.5 ENSMUST00000018625.6 ENSMUST00000018625.7 ENSMUST00000018625.8 ENSMUST00000018625.9 Kiaa0228 NM_025825 Q5SX12 Q80U61 Q9DAX9 uc007krj.1 uc007krj.2 uc007krj.3 uc007krj.4 Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation. The C-degron recognized by the DesCEND pathway is usually a motif of less than ten residues and can be present in full-length proteins, truncated proteins or proteolytically cleaved forms. The CRL2(APPBP2) complex specifically recognizes proteins with a -Arg-Xaa- Xaa-Gly degron at the C-terminus, leading to their ubiquitination and degradation. The CRL2(APPBP2) complex mediates ubiquitination and degradation of truncated SELENOV selenoproteins produced by failed UGA/Sec decoding, which end with a -Arg-Xaa-Xaa-Gly degron. May play a role in intracellular protein transport: may be involved in the translocation of APP along microtubules toward the cell surface. E3 ubiquitin-protein ligase activity of the CRL2(APPBP2) complex is inhibited by APP. Protein modification; protein ubiquitination. Component of a CRL2 E3 ubiquitin-protein ligase complex, also named ECS (Elongin BC-CUL2/5-SOCS-box protein) complex, composed of CUL2, Elongin BC (ELOB and ELOC), RBX1 and substrate-specific adapter APPBP2. Interacts with APP; APP interaction inhibits the E3 ubiquitin- protein ligase activity of the CRL2(APPBP2) complex. Nucleus Cytoplasm, cytoskeleton Membrane ; Peripheral membrane protein Note=Associated with membranes and microtubules. Rapidly degraded by the proteasome upon overexpression of a C- terminal fragment of APP. protein binding nucleus cytoplasm cytoskeleton microtubule intracellular protein transport protein transport membrane cytoplasmic vesicle membrane intracellular transport uc007krj.1 uc007krj.2 uc007krj.3 uc007krj.4 
ENSMUST00000018630.3 Wnt9b ENSMUST00000018630.3 wingless-type MMTV integration site family, member 9B (from RefSeq NM_011719.4) ENSMUST00000018630.1 ENSMUST00000018630.2 NM_011719 Q2TBA6 Q2TBA6_MOUSE Wnt9b uc007lvr.1 uc007lvr.2 uc007lvr.3 Ligand for members of the frizzled family of seven transmembrane receptors. Secreted, extracellular space, extracellular matrix Belongs to the Wnt family. receptor binding extracellular region multicellular organism development Wnt signaling pathway receptor agonist activity canonical Wnt signaling pathway negative regulation of stem cell population maintenance midbrain dopaminergic neuron differentiation non-canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation uc007lvr.1 uc007lvr.2 uc007lvr.3 
ENSMUST00000018632.11 Myh4 ENSMUST00000018632.11 myosin, heavy polypeptide 4, skeletal muscle (from RefSeq NM_010855.3) B9EJ73 ENSMUST00000018632.1 ENSMUST00000018632.10 ENSMUST00000018632.2 ENSMUST00000018632.3 ENSMUST00000018632.4 ENSMUST00000018632.5 ENSMUST00000018632.6 ENSMUST00000018632.7 ENSMUST00000018632.8 ENSMUST00000018632.9 MYH4_MOUSE NM_010855 Q5SX39 uc287zbc.1 uc287zbc.2 Muscle contraction. Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Cytoplasm, myofibril. Note=Thick filaments of the myofibrils. The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2). Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. Represents a conventional myosin. This protein should not be confused with the unconventional myosin-4 (MYO4). nucleotide binding double-stranded RNA binding motor activity actin binding calmodulin binding ATP binding cytoplasm muscle contraction response to activity myosin complex myofibril myosin filament actin filament binding uc287zbc.1 uc287zbc.2 
ENSMUST00000018644.3 Adora2b ENSMUST00000018644.3 adenosine A2b receptor (from RefSeq NM_007413.4) AA2BR_MOUSE ENSMUST00000018644.1 ENSMUST00000018644.2 NM_007413 Q60614 Q8BXI2 uc007jio.1 uc007jio.2 uc007jio.3 Receptor for adenosine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Cell membrane; Multi-pass membrane protein. Belongs to the G-protein coupled receptor 1 family. G-protein coupled adenosine receptor activity positive regulation of endothelial cell proliferation adenosine receptor signaling pathway positive regulation of chronic inflammatory response to non-antigenic stimulus G-protein coupled receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway positive regulation of cell proliferation negative regulation of cell proliferation cell surface positive regulation of vascular endothelial growth factor production positive regulation of endothelial cell migration positive regulation of norepinephrine secretion positive regulation of cGMP-mediated signaling positive regulation of steroid biosynthetic process membrane integral component of membrane positive regulation of guanylate cyclase activity cellular response to extracellular stimulus positive regulation of chemokine production positive regulation of interleukin-6 production negative regulation of collagen biosynthetic process positive regulation of catecholamine secretion positive regulation of mast cell degranulation positive regulation of cAMP-mediated signaling synapse relaxation of vascular smooth muscle glutamatergic synapse regulation of synaptic vesicle exocytosis uc007jio.1 uc007jio.2 uc007jio.3 
ENSMUST00000018645.13 Ncor1 ENSMUST00000018645.13 Belongs to the N-CoR nuclear receptor corepressors family. (from UniProt Q5RIM6) ENSMUST00000018645.1 ENSMUST00000018645.10 ENSMUST00000018645.11 ENSMUST00000018645.12 ENSMUST00000018645.2 ENSMUST00000018645.3 ENSMUST00000018645.4 ENSMUST00000018645.5 ENSMUST00000018645.6 ENSMUST00000018645.7 ENSMUST00000018645.8 ENSMUST00000018645.9 Ncor1 Q5RIM6 Q5RIM6_MOUSE U35312 uc029rmb.1 uc029rmb.2 uc029rmb.3 Belongs to the N-CoR nuclear receptor corepressors family. histone deacetylase complex negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II activating transcription factor binding DNA binding transcription corepressor activity nucleus nucleoplasm cytosol Sin3 complex transcriptional repressor complex nuclear hormone receptor binding histone deacetylase binding negative regulation of transcription, DNA-templated negative regulation of JNK cascade spindle assembly negative regulation of androgen receptor signaling pathway regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter mitotic spindle negative regulation of production of miRNAs involved in gene silencing by miRNA uc029rmb.1 uc029rmb.2 uc029rmb.3 
ENSMUST00000018651.14 Trpv2 ENSMUST00000018651.14 transient receptor potential cation channel, subfamily V, member 2, transcript variant 1 (from RefSeq NM_011706.2) ENSMUST00000018651.1 ENSMUST00000018651.10 ENSMUST00000018651.11 ENSMUST00000018651.12 ENSMUST00000018651.13 ENSMUST00000018651.2 ENSMUST00000018651.3 ENSMUST00000018651.4 ENSMUST00000018651.5 ENSMUST00000018651.6 ENSMUST00000018651.7 ENSMUST00000018651.8 ENSMUST00000018651.9 Grc NM_011706 Q99K71 Q9WTR1 TRPV2_MOUSE uc007jjh.1 uc007jjh.2 uc007jjh.3 Calcium-permeable, non-selective cation channel with an outward rectification. Seems to be regulated, at least in part, by IGF- I, PDGF and neuropeptide head activator. May transduce physical stimuli in mast cells. Activated by temperatures higher than 52 degrees Celsius; is not activated by vanilloids and acidic pH. Homotetramer (Probable). Interacts with a cAMP-dependent protein kinase type II regulatory subunit (PRKAR2A or PRKAR2B) and ACBD3. Interacts with SLC50A1; the interaction probably occurs intracellularly and depends on TRPV2 N-glycosylation (By similarity). Cell membrane; Multi-pass membrane protein. Cytoplasm. Melanosome Note=Translocates from the cytoplasm to the plasma membrane upon ligand stimulation. Abundantly expressed in spleen, placenta, skeleton muscle, lung and brain. N-glycosylated. Phosphorylated by PKA. Belongs to the transient receptor (TC 1.A.4) family. TrpV subfamily. TRPV2 sub-subfamily. ion channel activity cation channel activity calcium channel activity cytoplasm plasma membrane integral component of plasma membrane ion transport calcium ion transport negative regulation of cell proliferation response to temperature stimulus response to heat cell surface endomembrane system membrane integral component of membrane lamellipodium axon growth cone membrane melanosome identical protein binding axonal growth cone cell body positive regulation of axon extension transmembrane transport calcium ion transmembrane transport positive regulation of calcium ion import apoptotic process uc007jjh.1 uc007jjh.2 uc007jjh.3 
ENSMUST00000018653.8 Cenpv ENSMUST00000018653.8 centromere protein V (from RefSeq NM_028448.1) B2RWK8 B9EK22 CENPV_MOUSE ENSMUST00000018653.1 ENSMUST00000018653.2 ENSMUST00000018653.3 ENSMUST00000018653.4 ENSMUST00000018653.5 ENSMUST00000018653.6 ENSMUST00000018653.7 NM_028448 Prr6 Q5SX21 Q6PIA5 Q9CXS4 uc007jjf.1 uc007jjf.2 uc007jjf.3 uc007jjf.4 Required for distribution of pericentromeric heterochromatin in interphase nuclei and for centromere formation and organization, chromosome alignment and cytokinesis. Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) ions per subunit. Chromosome, centromere, kinetochore Nucleus Cytoplasm, cytoskeleton, spindle Note=Enriched at the nuclear periphery and around the nucleolus. In mitotic cells, localizes to kinetochores from prometaphase to metaphase. At anaphase onset, transfers to the spindle midzone and then to the mid-body in telophase and cytokinesis. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CXS4-1; Sequence=Displayed; Name=2; IsoId=Q9CXS4-2; Sequence=VSP_019551; Belongs to the Gfa family. chromosome, centromeric region kinetochore condensed chromosome kinetochore ameboidal-type cell migration molecular_function nucleus chromosome cytoplasm spindle cytoskeleton cell cycle microtubule cytoskeleton carbon-sulfur lyase activity pericentric heterochromatin assembly positive regulation of cytokinesis regulation of chromosome organization centromere complex assembly metal ion binding spindle midzone cell division uc007jjf.1 uc007jjf.2 uc007jjf.3 uc007jjf.4 
ENSMUST00000018685.9 Cwc25 ENSMUST00000018685.9 CWC25 spliceosome-associated protein (from RefSeq NM_026186.4) A2A6F4 CWC25_MOUSE Ccdc49 ENSMUST00000018685.1 ENSMUST00000018685.2 ENSMUST00000018685.3 ENSMUST00000018685.4 ENSMUST00000018685.5 ENSMUST00000018685.6 ENSMUST00000018685.7 ENSMUST00000018685.8 NM_026186 Q6AXH2 Q7TSF8 Q9DBF7 uc007ler.1 uc007ler.2 uc007ler.3 uc007ler.4 Involved in pre-mRNA splicing as component of the spliceosome. Identified in the spliceosome C complex. Nucleus Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9DBF7-1; Sequence=Displayed; Name=2; IsoId=Q9DBF7-2; Sequence=VSP_025798; Name=3; IsoId=Q9DBF7-3; Sequence=VSP_025799; Belongs to the CWC25 family. mRNA splicing, via spliceosome molecular_function nucleus spliceosomal complex mRNA processing RNA splicing nuclear speck U2-type catalytic step 1 spliceosome uc007ler.1 uc007ler.2 uc007ler.3 uc007ler.4 
ENSMUST00000018691.9 Pip4k2b ENSMUST00000018691.9 phosphatidylinositol-5-phosphate 4-kinase, type II, beta (from RefSeq NM_054051.1) ENSMUST00000018691.1 ENSMUST00000018691.2 ENSMUST00000018691.3 ENSMUST00000018691.4 ENSMUST00000018691.5 ENSMUST00000018691.6 ENSMUST00000018691.7 ENSMUST00000018691.8 NM_054051 PI42B_MOUSE Pip4k2b Pip5k2b Q80XI4 Q8VHB2 uc007leq.1 uc007leq.2 Participates in the biosynthesis of phosphatidylinositol 4,5- bisphosphate. Preferentially utilizes GTP, rather than ATP, for PI(5)P phosphorylation and its activity reflects changes in direct proportion to the physiological GTP concentration. Its GTP-sensing activity is critical for metabolic adaptation. In collaboration with PIP4K2A, has a role in mediating autophagy in times of nutrient stress (PubMed:29727621). Required for autophagosome-lysosome fusion and the regulation of cellular lipid metabolism (PubMed:29727621). PIP4Ks negatively regulate insulin signaling through a catalytic-independent mechanism. They interact with PIP5Ks and suppress PIP5K-mediated PtdIns(4,5)P2 synthesis and insulin-dependent conversion to PtdIns(3,4,5)P3 (By similarity). Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5- phosphate) + ATP = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo- inositol-4,5-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:12280, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57795, ChEBI:CHEBI:58456, ChEBI:CHEBI:456216; EC=2.7.1.149; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:12281; Evidence=; Reaction=1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5- phosphate) + ATP = 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo- inositol-4,5-bisphosphate) + ADP + H(+); Xref=Rhea:RHEA:55992, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:83423, ChEBI:CHEBI:84968, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55993; Evidence=; Reaction=1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5- phosphate) + GTP = 1,2-dihexadecanoyl-sn-glycero-3-phospho-(1D-myo- inositol-4,5-bisphosphate) + GDP + H(+); Xref=Rhea:RHEA:55964, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:58189, ChEBI:CHEBI:83423, ChEBI:CHEBI:84968; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55965; Evidence=; Homodimer. Binds TNFRSF1A. Interacts with PIP4K2A; the interaction suppresses ubiquitination by the SPOP/CUL3 complex (By similarity). Probably interacts with PIP5K1A; the interaction inhibits PIP5K1A kinase activity (By similarity). Endoplasmic reticulum membrane ; Peripheral membrane protein Cell membrane ; Peripheral membrane protein Nucleus Cytoplasm Note=Associated with the plasma membrane and the endoplasmic reticulum. Ubiquitinated by the SPOP/CUL3 complex. Ubiquitination is stimulated by PtdIns5P levels. Phosphorylated on serine residues. nucleotide binding protein binding ATP binding nucleus nucleoplasm cytoplasm autophagosome endoplasmic reticulum endoplasmic reticulum membrane plasma membrane regulation of autophagy membrane kinase activity phosphatidylinositol phosphate kinase activity 1-phosphatidylinositol-4-phosphate 5-kinase activity 1-phosphatidylinositol-5-phosphate 4-kinase activity phosphorylation transferase activity protein homodimerization activity phosphatidylinositol metabolic process phosphatidylinositol phosphorylation positive regulation of autophagosome assembly uc007leq.1 uc007leq.2 
ENSMUST00000018710.13 Slc2a4 ENSMUST00000018710.13 solute carrier family 2 (facilitated glucose transporter), member 4, transcript variant 1 (from RefSeq NM_009204.2) ENSMUST00000018710.1 ENSMUST00000018710.10 ENSMUST00000018710.11 ENSMUST00000018710.12 ENSMUST00000018710.2 ENSMUST00000018710.3 ENSMUST00000018710.4 ENSMUST00000018710.5 ENSMUST00000018710.6 ENSMUST00000018710.7 ENSMUST00000018710.8 ENSMUST00000018710.9 GLUT4_MOUSE Glut4 NM_009204 P14142 Q3TPK6 Q9JJN9 Slc2a4 uc007jsz.1 uc007jsz.2 uc007jsz.3 Insulin-regulated facilitative glucose transporter, which plays a key role in removal of glucose from circulation (PubMed:26240143, PubMed:26629404). Response to insulin is regulated by its intracellular localization: in the absence of insulin, it is efficiently retained intracellularly within storage compartments in muscle and fat cells (PubMed:26240143, PubMed:26629404). Upon insulin stimulation, translocates from these compartments to the cell surface where it transports glucose from the extracellular milieu into the cell (PubMed:26240143, PubMed:26629404). Reaction=D-glucose(out) = D-glucose(in); Xref=Rhea:RHEA:60376, ChEBI:CHEBI:4167; Evidence=; Binds to DAXX (By similarity). Interacts via its N-terminus with SRFBP1 (By similarity). Interacts with NDUFA9 (By similarity). Interacts with TRARG1; the interaction is required for proper SLC2A4 recycling after insulin stimulation (PubMed:26629404). P14142; Q3U7R1: Esyt1; NbExp=2; IntAct=EBI-7540210, EBI-8398881; Cell membrane ulti-pass membrane protein Endomembrane system ; Multi-pass membrane protein Cytoplasm, perinuclear region te=Localizes primarily to the perinuclear region, undergoing continued recycling to the plasma membrane where it is rapidly reinternalized (PubMed:26629404, PubMed:26240143, PubMed:27354378). The dileucine internalization motif is critical for intracellular sequestration (PubMed:26240143, PubMed:26629404). Insulin stimulation induces translocation to the cell membrane (PubMed:27739494). Expressed in skeletal and cardiac muscles (PubMed:2654938, PubMed:26240143). Expressed in brown and white adipose tissues (PubMed:2654938, PubMed:26240143). The dileucine internalization motif is critical for intracellular sequestration. Sumoylated. Palmitoylated. Palmitoylation by ZDHHC7 controls the insulin- dependent translocation of GLUT4 to the plasma membrane. Note=Defects in Slc2a4 may be the cause of certain post- receptor defects in non-insulin-dependent diabetes mellitus (NIDDM). Insulin-stimulated phosphorylation of TBC1D4 is required for GLUT4 translocation. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. glucose transmembrane transporter activity insulin-responsive hydrogen:glucose symporter activity protein binding cytoplasm endosome multivesicular body cytosol plasma membrane integral component of plasma membrane clathrin-coated pit carbohydrate transport external side of plasma membrane cell surface amylopectin biosynthetic process endomembrane system vesicle membrane membrane integral component of membrane sarcoplasmic reticulum transmembrane transporter activity clathrin-coated vesicle trans-Golgi network transport vesicle T-tubule cytoplasmic vesicle membrane vesicle insulin-responsive compartment cellular response to insulin stimulus sarcolemma glucose homeostasis intracellular membrane-bounded organelle glucose import in response to insulin stimulus membrane raft response to ethanol glucose import perinuclear region of cytoplasm brown fat cell differentiation D-glucose transmembrane transporter activity transmembrane transport extracellular exosome cellular response to tumor necrosis factor cellular response to hypoxia cellular response to osmotic stress presynapse glucose transmembrane transport uc007jsz.1 uc007jsz.2 uc007jsz.3 
ENSMUST00000018711.15 Gabarap ENSMUST00000018711.15 gamma-aminobutyric acid receptor associated protein (from RefSeq NM_019749.4) B1AR49 ENSMUST00000018711.1 ENSMUST00000018711.10 ENSMUST00000018711.11 ENSMUST00000018711.12 ENSMUST00000018711.13 ENSMUST00000018711.14 ENSMUST00000018711.2 ENSMUST00000018711.3 ENSMUST00000018711.4 ENSMUST00000018711.5 ENSMUST00000018711.6 ENSMUST00000018711.7 ENSMUST00000018711.8 ENSMUST00000018711.9 GBRAP_MOUSE Gabarap NM_019749 Q9DCD6 Q9QUI7 uc007jtg.1 uc007jtg.2 uc007jtg.3 uc007jtg.4 Ubiquitin-like modifier that plays a role in intracellular transport of GABA(A) receptors and its interaction with the cytoskeleton. Involved in autophagy: while LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation. Through its interaction with the reticulophagy receptor TEX264, participates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover. Also required for the local activation of the CUL3(KBTBD6/7) E3 ubiquitin ligase complex, regulating ubiquitination and degradation of TIAM1, a guanyl-nucleotide exchange factor (GEF) that activates RAC1 and downstream signal transduction. Thereby, regulates different biological processes including the organization of the cytoskeleton, cell migration and proliferation. Involved in apoptosis. Interacts with GPHN (PubMed:10900017). Interacts with NSF (By similarity). Interacts with ATG7 (PubMed:11890701). Interacts with ATG3 and ATG13 (By similarity). Interacts with alpha-tubulin (By similarity). Interacts with beta-tubulin (PubMed:10899939). Interacts with GABRG2 (By similarity). Interacts with RB1CC1 (By similarity). Interacts with ULK1 (By similarity). Interacts with CALR (By similarity). Interacts with DDX47 (By similarity). Interacts with TP53INP1 and TP53INP2 (By similarity). Interacts with TBC1D5 (By similarity). Interacts with TBC1D25 (PubMed:21383079). Directly interacts with SQSTM1 (By similarity). Interacts with MAPK15 (By similarity). Interacts with TECPR2 (By similarity). Interacts with PCM1 (By similarity). Interacts with TRIM5 and TRIM21 (By similarity). Interacts with MEFV (By similarity). Interacts with KIF21B (By similarity). Interacts with WDFY3; this interaction is required for WDFY3 recruitment to MAP1LC3B-positive p62/SQSTM1 bodies (By similarity). Interacts with FLCN; interaction regulates autophagy (By similarity). Interacts with UBA5 (By similarity). Interacts with KBTBD6 and KBTBD7; the interaction is direct and required for the ubiquitination of TIAM1 (By similarity). Interacts with reticulophagy regulators RETREG1, RETREG2 and RETREG3 (By similarity). Interacts with Irgm1 (By similarity). Interacts with STX17 (By similarity). Interacts with CT55; this interaction may be important for GABARAP protein stability (By similarity). Interacts with DNM2 (By similarity). Cytoplasmic vesicle, autophagosome membrane Endomembrane system Cytoplasm, cytoskeleton Golgi apparatus membrane Cytoplasmic vesicle Note=Largely associated with intracellular membrane structures including the Golgi apparatus and postsynaptic cisternae. Colocalizes with microtubules (PubMed:10899939). Localizes also to discrete punctae along the ciliary axoneme (PubMed:24089209). The precursor molecule is cleaved by ATG4 (ATG4A, ATG4B, ATG4C or ATG4D) to expose the glycine at the C-terminus and form the cytosolic form, GABARAP-I (PubMed:14530254). The processed form is then activated by APG7L/ATG7, transferred to ATG3 and conjugated to phosphatidylethanolamine (PE) phospholipid to form the membrane-bound form, GABARAP-II (By similarity). During non-canonical autophagy, the processed form is conjugated to phosphatidylserine (PS) phospholipid (By similarity). ATG4 proteins also mediate the delipidation of PE- conjugated forms (PubMed:33795848). In addition, ATG4B and ATG4D mediate delipidation of ATG8 proteins conjugated to PS during non- canonical autophagy (By similarity). ATG4B constitutes the major protein for proteolytic activation (By similarity). ATG4D is the main enzyme for delipidation activity (PubMed:33795848). Belongs to the ATG8 family. autophagosome assembly Golgi membrane microtubule cytoskeleton organization autophagosome membrane mitophagy protein binding cytoplasm lysosome autophagosome smooth endoplasmic reticulum Golgi apparatus cytosol cytoskeleton microtubule microtubule associated complex plasma membrane axoneme autophagy apoptotic process cellular response to nitrogen starvation microtubule binding extrinsic apoptotic signaling pathway via death domain receptors endomembrane system protein transport actin cytoskeleton membrane macroautophagy cytoplasmic vesicle ubiquitin protein ligase binding cell body perinuclear region of cytoplasm beta-tubulin binding GABA receptor binding sperm midpiece autophagosome maturation uc007jtg.1 uc007jtg.2 uc007jtg.3 uc007jtg.4 
ENSMUST00000018716.10 Phf23 ENSMUST00000018716.10 PHD finger protein 23, transcript variant 1 (from RefSeq NM_030064.4) ENSMUST00000018716.1 ENSMUST00000018716.2 ENSMUST00000018716.3 ENSMUST00000018716.4 ENSMUST00000018716.5 ENSMUST00000018716.6 ENSMUST00000018716.7 ENSMUST00000018716.8 ENSMUST00000018716.9 NM_030064 PHF23_MOUSE Phf23 Q3TCH1 Q8BSN5 Q8BT31 Q8CDY2 Q8CIA4 Q8CIU8 Q8CIU9 Q9CWC8 uc007jth.1 uc007jth.2 uc007jth.3 uc007jth.4 uc007jth.5 Acts as a negative regulator of autophagy, through promoting ubiquitination and degradation of LRSAM1, an E3 ubiquitin ligase that promotes autophagy in response to starvation or infecting bacteria. Interacts with LRSAM1. Nucleus Cytoplasm Note=Mainly present in the nucleus and part in the cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8BSN5-1; Sequence=Displayed; Name=2; Synonyms=JUNE1A; IsoId=Q8BSN5-2; Sequence=VSP_027965; Name=3; IsoId=Q8BSN5-3; Sequence=VSP_027964; The PHD-type zinc-finger domain is required for interaction with LRSAM1 and negative regulation of autophagy. Belongs to the PHF23 family. Sequence=AAH33533.1; Type=Erroneous initiation; Evidence=; Sequence=BAC25679.1; Type=Erroneous initiation; Evidence=; chromatin binding nucleus nucleoplasm cytoplasm autophagy mitotic chromosome condensation positive regulation of protein ubiquitination metal ion binding negative regulation of autophagosome maturation negative regulation of autophagosome assembly uc007jth.1 uc007jth.2 uc007jth.3 uc007jth.4 uc007jth.5 
ENSMUST00000018727.4 G3bp1 ENSMUST00000018727.4 G3BP stress granule assembly factor 1, transcript variant 1 (from RefSeq NM_013716.3) ENSMUST00000018727.1 ENSMUST00000018727.2 ENSMUST00000018727.3 G3BP1_MOUSE G3bp NM_013716 P97855 uc007izl.1 uc007izl.2 uc007izl.3 Protein involved in various processes, such as stress granule formation and innate immunity (By similarity). Plays an essential role in stress granule formation (By similarity). Stress granules are membraneless compartments that store mRNAs and proteins, such as stalled translation pre-initiation complexes, in response to stress (By similarity). Promotes formation of stress granules phase-separated membraneless compartment by undergoing liquid-liquid phase separation (LLPS) upon unfolded RNA-binding: functions as a molecular switch that triggers RNA-dependent LLPS in response to a rise in intracellular free RNA concentrations (By similarity). Also acts as an ATP- and magnesium- dependent helicase: unwinds DNA/DNA, RNA/DNA, and RNA/RNA substrates with comparable efficiency (By similarity). Acts unidirectionally by moving in the 5' to 3' direction along the bound single-stranded DNA (By similarity). Unwinds preferentially partial DNA and RNA duplexes having a 17 bp annealed portion and either a hanging 3' tail or hanging tails at both 5'- and 3'-ends (By similarity). Plays an essential role in innate immunity by promoting CGAS and RIGI activity (By similarity). Participates in the DNA-triggered cGAS/STING pathway by promoting the DNA binding and activation of CGAS (By similarity). Triggers the condensation of cGAS, a process probably linked to the formation of membrane-less organelles. Enhances also RIGI-induced type I interferon production probably by helping RIGI at sensing pathogenic RNA (By similarity). May also act as a phosphorylation-dependent sequence- specific endoribonuclease in vitro: Cleaves exclusively between cytosine and adenine and cleaves MYC mRNA preferentially at the 3'-UTR (PubMed:11604510). Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12; Evidence=; Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Note=Mg(2+) is required for helicase activity. ; Under physiological conditions, G3BP1 adopts a compact state that is stabilized by intramolecular interactions between the RG-rich and the acidic regions that inhibit phase separation. Upon stress, polysomes disassemble and mRNAs are released in an unfolded protein-free state. Binding of unfolded mRNA to G3BP1 outcompetes the intramolecular interactions and RNA-bound G3BP1 adopts an expanded conformation in which the RG-rich region becomes exposed to engage in protein-protein and protein-RNA interactions, allowing physical cross- linking of RNA molecules to form protein-RNA condensates, leading to liquid-liquid phase separation (LLPS). Homodimer and oligomer (By similarity). Component of a TAU mRNP complex, at least composed of IGF2BP1, ELAVL4 and G3BP1 (PubMed:15086518). Binds to the SH3 domain of Ras GTPase-activating protein (RASA1) in proliferating cells (PubMed:8649363). No interaction in quiescent cells (PubMed:8649363). Interacts (via NTF2 domain) with USP10; inhibiting stress granule formation by lowering G3BP1 valence (By similarity). Interacts (via NTF2 domain) with CAPRIN1; promoting stress granule formation by lowering the saturation-concentration of G3BP1 (By similarity). Interacts (via NTF2 domain) with UBAP2L; promoting stress granule formation (By similarity). Associates (via RG- rich region) with 40S ribosome subunits (By similarity). Interacts with RPTOR and SPAG5; this complex is increased by oxidative stress (By similarity). Interacts with ATXN2L (By similarity). Interacts with STYXL1 (By similarity). Interacts with CGAS (via N-terminus); this interaction promotes the DNA-binding and activation of CGAS (By similarity). Interacts (via C-terminus) with RIGI (By similarity). Interacts with PABPC1 (By similarity). Interacts with QKI (isoforms QKI6 and QKI7); directing N(7)-methylguanine-containing mRNAs to stress granules (By similarity). Cytoplasm, cytosol rikaryon Cytoplasm, Stress granule Nucleus Note=Cytoplasmic in proliferating cells, can be recruited to the plasma membrane in exponentially growing cells. Cytosolic and partially nuclear in resting cells. Recruited to stress granules in response to arsenite treatment. The unphosphorylated form is recruited to stress granules. HRAS signaling contributes to this process by regulating G3BP dephosphorylation. Ubiquitous. Can mediate both protein-protein and protein-RNA interactions via the NTF2 domain and RNA-binding domain RRM; protein-protein and protein-RNA interactions are essential for undergoing liquid-liquid phase separation (LLPS). The acidic disordered region acts as a negative regulator of phase separation. The NTF2 domain mediates interaction with CAPRIN1 and USP10 regulators, thereby regulating assembly of stress granules. Phosphorylation of the acidic disordered region regulates stress granule assembly. RASA1-dependent phosphorylation of Ser-149 induces a conformational change that prevents self-association. Dephosphorylation after HRAS activation is required for stress granule assembly. Ser-149 phosphorylation induces partial nuclear localization. Arg-435 is dimethylated, probably to asymmetric dimethylarginine. Ubiquitinated by TRIM21 via 'Lys-63'-linked polyubiquitination in the NTF2 domain in response to heat shock, leading to stress granule disassembly: ubiquitination promotes interaction with the FAF2 adapter, followed by interaction with VCP, which extracts G3BP1 from stress granules, leading to stress granule disassembly. In case of prolonged stress, ubiquitination by TRIM21 leads to autophagy-dependent degradation of G3BP1 via recruitment of ubiquitinated G3BP1 by SQSTM1 and/or CALCOCO2 to autophagosomes. nucleotide binding immune system process nucleic acid binding DNA binding DNA helicase activity RNA binding RNA helicase activity mRNA binding helicase activity nuclease activity endonuclease activity protein binding ATP binding nucleus cytoplasm cytosol cytoplasmic stress granule hydrolase activity DNA duplex unwinding type I interferon production stress granule assembly perikaryon innate immune response defense response to virus negative regulation of canonical Wnt signaling pathway nucleic acid phosphodiester bond hydrolysis ribonucleoprotein complex uc007izl.1 uc007izl.2 uc007izl.3 
ENSMUST00000018739.5 Glra4 ENSMUST00000018739.5 glycine receptor, alpha 4 subunit, transcript variant 1 (from RefSeq NM_010297.3) A2AEA9 ENSMUST00000018739.1 ENSMUST00000018739.2 ENSMUST00000018739.3 ENSMUST00000018739.4 GLRA4_MOUSE NM_010297 Q45V76 Q61603 Q8VHF3 uc009uiz.1 uc009uiz.2 uc009uiz.3 uc009uiz.4 Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine. Channel opening is also triggered by taurine and beta-alanine (PubMed:10762330). Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents (Probable). Reaction=chloride(in) = chloride(out); Xref=Rhea:RHEA:29823, ChEBI:CHEBI:17996; Evidence=; Inhibited by strychnine (PubMed:10762330). Homopentamer (in vitro). Heteropentamer composed of GLRA4 and GLRB. Postsynaptic cell membrane ; Multi-pass membrane protein Synapse rikaryon Cell projection, dendrite Cell membrane ulti-pass membrane protein Detected in the retina inner plexiform layer, especially at the border between layer three and four (at protein level) (PubMed:17154252). The alpha subunit binds strychnine. Belongs to the ligand-gated ion channel (TC 1.A.9) family. Glycine receptor (TC 1.A.9.3) subfamily. GLRA4 sub-subfamily. transmembrane signaling receptor activity ion channel activity extracellular ligand-gated ion channel activity chloride channel activity plasma membrane integral component of plasma membrane ion transport chloride transport signal transduction neuropeptide signaling pathway chemical synaptic transmission membrane integral component of membrane glycine binding extracellular-glycine-gated chloride channel activity transmitter-gated ion channel activity cell junction dendrite ion transmembrane transport chloride channel complex regulation of membrane potential cell projection neuron projection response to amino acid perikaryon synapse postsynaptic membrane neurological system process synaptic transmission, glycinergic excitatory postsynaptic potential integral component of postsynaptic specialization membrane chloride transmembrane transport uc009uiz.1 uc009uiz.2 uc009uiz.3 uc009uiz.4 
ENSMUST00000018743.5 Mief2 ENSMUST00000018743.5 mitochondrial elongation factor 2 (from RefSeq NM_001009927.2) ENSMUST00000018743.1 ENSMUST00000018743.2 ENSMUST00000018743.3 ENSMUST00000018743.4 Gm11 MID49_MOUSE Mid49 NM_001009927 Q5NCS9 Smcr7 uc007jgj.1 uc007jgj.2 Mitochondrial outer membrane protein which regulates mitochondrial organization. It is required for mitochondrial fission and promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity. Interacts with DNM1L. Q5NCS9; Q8K1M6-3: Dnm1l; NbExp=2; IntAct=EBI-16092669, EBI-16092613; Mitochondrion outer membrane ; Single-pass membrane protein Note=Colocalizes with DNM1L at mitochondrial membrane. Forms foci and rings around mitochondria. Does not bind ADP or other nucleotides, in contrast to MIEF1. Belongs to the MID49/MID51 family. protein binding mitochondrion mitochondrial outer membrane mitochondrion organization regulation of mitochondrion organization membrane integral component of membrane positive regulation of protein homooligomerization positive regulation of mitochondrial fission positive regulation of protein targeting to membrane uc007jgj.1 uc007jgj.2 
ENSMUST00000018744.15 Shmt1 ENSMUST00000018744.15 serine hydroxymethyltransferase 1 (soluble), transcript variant 1 (from RefSeq NM_009171.3) ENSMUST00000018744.1 ENSMUST00000018744.10 ENSMUST00000018744.11 ENSMUST00000018744.12 ENSMUST00000018744.13 ENSMUST00000018744.14 ENSMUST00000018744.2 ENSMUST00000018744.3 ENSMUST00000018744.4 ENSMUST00000018744.5 ENSMUST00000018744.6 ENSMUST00000018744.7 ENSMUST00000018744.8 ENSMUST00000018744.9 GLYC_MOUSE NM_009171 P50431 Q64508 Q8R0X9 Shmt uc007jgo.1 uc007jgo.2 uc007jgo.3 Interconversion of serine and glycine. Reaction=(6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + glycine + H2O = (6S)-5,6,7,8-tetrahydrofolate + L-serine; Xref=Rhea:RHEA:15481, ChEBI:CHEBI:15377, ChEBI:CHEBI:15636, ChEBI:CHEBI:33384, ChEBI:CHEBI:57305, ChEBI:CHEBI:57453; EC=2.1.2.1; Evidence=; Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326; Evidence=; One-carbon metabolism; tetrahydrofolate interconversion. Homotetramer (PubMed:11063567). Identified in complex with FAM175B and the other subunits of the BRISC complex, at least composed of FAM175B/ABRO1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1. Cytoplasm. In eukaryotes there are two forms of the enzymes: a cytosolic one and a mitochondrial one. Belongs to the SHMT family. translation repressor activity, nucleic acid binding catalytic activity glycine hydroxymethyltransferase activity nucleus cytoplasm mitochondrion cytosol dTMP biosynthetic process glycine metabolic process glycine biosynthetic process L-serine metabolic process L-serine catabolic process one-carbon metabolic process zinc ion binding L-allo-threonine aldolase activity purine nucleobase biosynthetic process amino acid binding transferase activity negative regulation of translation glycine biosynthetic process from serine pyridoxal phosphate binding tetrahydrofolate interconversion identical protein binding protein homodimerization activity tetrahydrofolate metabolic process folic acid metabolic process mRNA 5'-UTR binding cobalt ion binding protein tetramerization protein homotetramerization serine binding cellular response to tetrahydrofolate cellular response to leukemia inhibitory factor uc007jgo.1 uc007jgo.2 uc007jgo.3 
ENSMUST00000018755.10 Pdlim4 ENSMUST00000018755.10 PDZ and LIM domain 4, transcript variant 1 (from RefSeq NM_019417.4) ENSMUST00000018755.1 ENSMUST00000018755.2 ENSMUST00000018755.3 ENSMUST00000018755.4 ENSMUST00000018755.5 ENSMUST00000018755.6 ENSMUST00000018755.7 ENSMUST00000018755.8 ENSMUST00000018755.9 NM_019417 P70271 PDLI4_MOUSE Q5SWV2 Q8K0W4 Ril uc007ixf.1 uc007ixf.2 uc007ixf.3 uc007ixf.4 Suppresses SRC activation by recognizing and binding to active SRC and facilitating PTPN13-mediated dephosphorylation of SRC 'Tyr-419' leading to its inactivation. Inactivated SRC dissociates from this protein allowing the initiation of a new SRC inactivation cycle. Involved in reorganization of the actin cytoskeleton (By similarity). In nonmuscle cells, binds to ACTN1 (alpha-actinin-1), increases the affinity of ACTN1 to F-actin (filamentous actin), and promotes formation of actin stress fibers. Involved in regulation of the synaptic AMPA receptor transport in dendritic spines of hippocampal pyramidal neurons directing the receptors toward an insertion at the postsynaptic membrane. Links endosomal surface-internalized GRIA1- containing AMPA receptors to the alpha-actinin/actin cytoskeleton. Increases AMPA receptor-mediated excitatory postsynaptic currents in neurons (By similarity). Homodimer (By similarity). Interacts (via C-terminus only or via combined C-terminus and LIM domain, but not LIM domain only) with PTPN13 (via the second or fourth PDZ domains) (PubMed:9487134, PubMed:15663004). Found in a complex with PTPN13 and TRIP6 (PubMed:10826496). Interacts (via PDZ domain) with ACTN1 and ACTN2 (via C-terminal SDL residues) (By similarity). Interacts (via PDZ domain) with TRIP6 (via the second LIM domain or via the third LIM domain plus C-terminus) (PubMed:10826496). Interacts (via LIM domain) with GRIA1 (via C-terminus); this interaction as well as the interaction with alpha-actinin is required for their colocalization in early endosomes. Interacts with PDLIM1 (By similarity). Forms (via LIM domain) a heterodimer with PDLIM3 (PubMed:15663004). Interacts directly with SRC (via kinase domain and to a lesser extent the SH2 domain) (By similarity). P70271; Q9Z1Y4: Trip6; NbExp=2; IntAct=EBI-7288319, EBI-643879; Cytoplasm, cytoskeleton Cell projection, dendritic spine Early endosome membrane ; Peripheral membrane protein ; Cytoplasmic side Recycling endosome membrane ; Peripheral membrane protein ; Cytoplasmic side Nucleus Cytoplasm, perinuclear region Cell projection, lamellipodium Synapse, synaptosome Note=Localizes to actin stress fibers in nonmuscle cells. Colocalizes with GRIA1 in early endosomes. Enriched in numerous but not all spine-like structures along dendritic branches. Colocalizes with actin and enriched at sites containing larger amounts of actin and alpha-actinin. Targeted efficiently to spines via its PDZ domain-mediated interaction with the alpha-actinin/actin cytoskeletal complex. Localizes to synaptosomes in brain (By similarity). Colocalizes with F-actin. Colocalizes with TRIP6 at cell-cell contacts and lamellipodia. In the cytoplasm, displays a fibrillar pattern with characteristic thick fibers and occasional clusters. Colocalizes with the actin stress fibers. Oxidative stress induces redistribution from cytoskeleton to cytosol. Colocalizes with SRC at the perinuclear region, but not at focal adhesions (By similarity). Expressed in several non-muscle tissues including lung, brain, ovary and uterus, and especially in epithelial cells at 14 dpc. In the uterus, high expression in the glandular epithelium, but absent in the simple columnar epithelium lining the uterus cavity. Phosphorylated on tyrosine residue(s). Can be dephosphorylated by PTPN13. stress fiber actin binding protein binding nucleus cytoplasm endosome cytoskeleton cell-cell adherens junction heart development actin cytoskeleton membrane protein phosphatase binding Z disc lamellipodium actin cytoskeleton organization cell junction actin cytoskeleton reorganization early endosome membrane early endosome lumen filamentous actin recycling endosome lumen protein homodimerization activity actinin binding cell projection neuron projection dendritic spine synapse postsynaptic membrane metal ion binding perinuclear region of cytoplasm muscle alpha-actinin binding alpha-actinin binding positive regulation of stress fiber assembly recycling endosome membrane muscle structure development excitatory chemical synaptic transmission uc007ixf.1 uc007ixf.2 uc007ixf.3 uc007ixf.4 
ENSMUST00000018765.4 Mmp8 ENSMUST00000018765.4 matrix metallopeptidase 8 (from RefSeq NM_008611.4) ENSMUST00000018765.1 ENSMUST00000018765.2 ENSMUST00000018765.3 MMP8_MOUSE NM_008611 O70138 O88733 Q6GTR5 uc009ocr.1 uc009ocr.2 uc009ocr.3 uc009ocr.4 This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme that degrades types I, II and III collagens. Mice lacking the encoded protein exhibit abnormalities in the inflammatory responses to various agents. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK089336.1, AK155901.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849387, SAMN00849388 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Can degrade fibrillar type I, II, and III collagens. May play a role in the degradation of collagen fibers during uterine involution. Reaction=Cleavage of interstitial collagens in the triple helical domain. Unlike EC 3.4.24.7, this enzyme cleaves type III collagen more slowly than type I.; EC=3.4.24.34; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Note=Binds 3 Ca(2+) ions per subunit. ; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) ions per subunit. ; Cannot be activated without removal of the activation peptide. Activated by matrilysin. Cytoplasmic granule. Secreted, extracellular space, extracellular matrix. Note=Stored in intracellular granules and released during inflammatory conditions. Neutrophils. Expressed in uterus. Low levels in kidney and muscle. Expressed in late embryogenesis and in the involuting postpartum uterus. The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation- peptide release activates the enzyme. Belongs to the peptidase M10A family. endopeptidase activity metalloendopeptidase activity serine-type endopeptidase activity calcium ion binding extracellular region extracellular space proteolysis peptidase activity metallopeptidase activity zinc ion binding positive regulation of gene expression negative regulation of gene expression hydrolase activity extracellular matrix organization collagen catabolic process extracellular matrix negative regulation of interleukin-10 production positive regulation of interleukin-6 production endodermal cell differentiation positive regulation of DNA binding positive regulation of MAPK cascade positive regulation of nitric oxide biosynthetic process positive regulation of JNK cascade metal ion binding positive regulation of NIK/NF-kappaB signaling positive regulation of reactive oxygen species biosynthetic process positive regulation of microglial cell activation positive regulation of tumor necrosis factor secretion uc009ocr.1 uc009ocr.2 uc009ocr.3 uc009ocr.4 
ENSMUST00000018767.9 Mmp7 ENSMUST00000018767.9 matrix metallopeptidase 7, transcript variant 1 (from RefSeq NM_010810.6) ENSMUST00000018767.1 ENSMUST00000018767.2 ENSMUST00000018767.3 ENSMUST00000018767.4 ENSMUST00000018767.5 ENSMUST00000018767.6 ENSMUST00000018767.7 ENSMUST00000018767.8 Mmp7 NM_010810 Q3UN27 Q3UN27_MOUSE uc009ocv.1 uc009ocv.2 uc009ocv.3 uc009ocv.4 This gene encodes a member of the matrix metalloproteinase family of extracellular matrix-degrading enzymes that are involved in tissue remodeling, wound repair, progression of atherosclerosis and tumor invasion. The encoded preproprotein undergoes proteolytic processing to generate a mature, zinc-dependent endopeptidase enzyme. Mice lacking the encoded protein are deficient in functional cryptdins. This gene is located in a cluster of other matrix metalloproteinase genes on chromosome 9. [provided by RefSeq, Feb 2016]. Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Note=Can bind about 5 Ca(2+) ions per subunit. ; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) ions per subunit. Belongs to the peptidase M10A family. metalloendopeptidase activity extracellular space proteolysis aging heparin binding peptidase activity metallopeptidase activity zinc ion binding cell surface hydrolase activity extracellular matrix response to nutrient levels estrous cycle metal ion binding maternal process involved in female pregnancy cellular response to mechanical stimulus uc009ocv.1 uc009ocv.2 uc009ocv.3 uc009ocv.4 
ENSMUST00000018792.12 Dusp14 ENSMUST00000018792.12 dual specificity phosphatase 14, transcript variant 6 (from RefSeq NM_001408745.1) DUS14_MOUSE ENSMUST00000018792.1 ENSMUST00000018792.10 ENSMUST00000018792.11 ENSMUST00000018792.2 ENSMUST00000018792.3 ENSMUST00000018792.4 ENSMUST00000018792.5 ENSMUST00000018792.6 ENSMUST00000018792.7 ENSMUST00000018792.8 ENSMUST00000018792.9 Mkp6 NM_001408745 Q9D715 Q9JLY7 uc007kqe.1 uc007kqe.2 uc007kqe.3 Involved in the inactivation of MAP kinases. Dephosphorylates ERK, JNK and p38 MAP-kinases. Plays a negative role in TCR signaling by dephosphorylating MAP3K7 adapter TAB1 leading to its inactivation. Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48; Evidence= Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16; Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA- COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily. inactivation of MAPK activity phosphoprotein phosphatase activity protein tyrosine phosphatase activity nucleus cytoplasm protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity dephosphorylation hydrolase activity phosphatase activity MAP kinase tyrosine/serine/threonine phosphatase activity peptidyl-tyrosine dephosphorylation uc007kqe.1 uc007kqe.2 uc007kqe.3 
ENSMUST00000018795.13 Tada2a ENSMUST00000018795.13 transcriptional adaptor 2A (from RefSeq NM_172562.3) ENSMUST00000018795.1 ENSMUST00000018795.10 ENSMUST00000018795.11 ENSMUST00000018795.12 ENSMUST00000018795.2 ENSMUST00000018795.3 ENSMUST00000018795.4 ENSMUST00000018795.5 ENSMUST00000018795.6 ENSMUST00000018795.7 ENSMUST00000018795.8 ENSMUST00000018795.9 NM_172562 Q3TZD7 Q8BNK0 Q8CHV6 Q8R3H5 TAD2A_MOUSE Tada2l uc007kqf.1 uc007kqf.2 uc007kqf.3 Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4 (By similarity). Required for the function of some acidic activation domains, which activate transcription from a distant site (By similarity). Binds double-stranded DNA (PubMed:16299514). Binds dinucleosomes, probably at the linker region between neighboring nucleosomes (PubMed:16299514). Plays a role in chromatin remodeling (By similarity). May promote TP53/p53 'Lys-321' acetylation, leading to reduced TP53 stability and transcriptional activity (By similarity). May also promote XRCC6 acetylation thus facilitating cell apoptosis in response to DNA damage (By similarity). Interacts with GCN5. Interacts with NR3C1. Associated with the P/CAF protein in the PCAF complex. Component of the PCAF complex, at least composed of TADA2L/ADA2, TADA3L/ADA3, TAF5L/PAF65-beta, TAF6L/PAF65-alpha, TAF10/TAFII30, TAF12/TAFII20, TAF9/TAFII31 and TRRAP. Component of the ADA2A-containing complex (ATAC), composed of KAT14, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1. Interacts with CCDC134. Nucleus romosome Sequence=AAH25448.1; Type=Erroneous initiation; Evidence=; Sequence=BAC38925.1; Type=Erroneous initiation; Evidence=; PCAF complex mitotic cell cycle regulation of protein phosphorylation DNA binding chromatin binding transcription coactivator activity nucleus Ada2/Gcn5/Ada3 transcription activator complex chromosome chromatin remodeling regulation of transcription from RNA polymerase II promoter regulation of histone deacetylation regulation of protein stability regulation of histone acetylation positive regulation of histone acetylation histone H3 acetylation SAGA-type complex mitotic spindle regulation of tubulin deacetylation positive regulation of nucleic acid-templated transcription histone acetyltransferase activity uc007kqf.1 uc007kqf.2 uc007kqf.3 
ENSMUST00000018800.9 Myl4 ENSMUST00000018800.9 myosin, light polypeptide 4, transcript variant 3 (from RefSeq NM_010858.5) ENSMUST00000018800.1 ENSMUST00000018800.2 ENSMUST00000018800.3 ENSMUST00000018800.4 ENSMUST00000018800.5 ENSMUST00000018800.6 ENSMUST00000018800.7 ENSMUST00000018800.8 Myl4 NM_010858 Q9CZ19 Q9CZ19_MOUSE uc007lwt.1 uc007lwt.2 uc007lwt.3 regulation of the force of heart contraction actin monomer binding calcium ion binding A band positive regulation of ATPase activity actin filament binding cardiac muscle contraction uc007lwt.1 uc007lwt.2 uc007lwt.3 
ENSMUST00000018803.12 Pnpo ENSMUST00000018803.12 pyridoxine 5'-phosphate oxidase (from RefSeq NM_134021.2) ENSMUST00000018803.1 ENSMUST00000018803.10 ENSMUST00000018803.11 ENSMUST00000018803.2 ENSMUST00000018803.3 ENSMUST00000018803.4 ENSMUST00000018803.5 ENSMUST00000018803.6 ENSMUST00000018803.7 ENSMUST00000018803.8 ENSMUST00000018803.9 NM_134021 PNPO_MOUSE Q3TP70 Q3U445 Q3U4X1 Q91XF0 uc007ldc.1 uc007ldc.2 uc007ldc.3 Catalyzes the oxidation of either pyridoxine 5'-phosphate (PNP) or pyridoxamine 5'-phosphate (PMP) into pyridoxal 5'-phosphate (PLP). Reaction=H2O + O2 + pyridoxamine 5'-phosphate = H2O2 + NH4(+) + pyridoxal 5'-phosphate; Xref=Rhea:RHEA:15817, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:28938, ChEBI:CHEBI:58451, ChEBI:CHEBI:597326; EC=1.4.3.5; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:15818; Evidence=; Reaction=O2 + pyridoxine 5'-phosphate = H2O2 + pyridoxal 5'-phosphate; Xref=Rhea:RHEA:15149, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:58589, ChEBI:CHEBI:597326; EC=1.4.3.5; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:15150; Evidence=; Name=FMN; Xref=ChEBI:CHEBI:58210; Evidence=; Note=Binds 1 FMN per subunit. ; Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxal 5'-phosphate from pyridoxamine 5'-phosphate: step 1/1. Cofactor metabolism; pyridoxal 5'-phosphate salvage; pyridoxal 5'-phosphate from pyridoxine 5'-phosphate: step 1/1. Homodimer. Belongs to the pyridoxamine 5'-phosphate oxidase family. Sequence=BAE32590.1; Type=Erroneous initiation; Evidence=; pyridoxamine-phosphate oxidase activity nucleoplasm cytosol pyridoxine biosynthetic process FMN binding oxidoreductase activity oxidoreductase activity, acting on the CH-NH2 group of donors pyridoxal phosphate binding protein homodimerization activity pyridoxal phosphate biosynthetic process cofactor binding oxidation-reduction process uc007ldc.1 uc007ldc.2 uc007ldc.3 
ENSMUST00000018805.15 Cog1 ENSMUST00000018805.15 component of oligomeric golgi complex 1 (from RefSeq NM_013581.3) COG1_MOUSE ENSMUST00000018805.1 ENSMUST00000018805.10 ENSMUST00000018805.11 ENSMUST00000018805.12 ENSMUST00000018805.13 ENSMUST00000018805.14 ENSMUST00000018805.2 ENSMUST00000018805.3 ENSMUST00000018805.4 ENSMUST00000018805.5 ENSMUST00000018805.6 ENSMUST00000018805.7 ENSMUST00000018805.8 ENSMUST00000018805.9 Ldlb NM_013581 Q6P567 Q9Z160 uc007mer.1 uc007mer.2 uc007mer.3 uc007mer.4 Required for normal Golgi function. Component of the conserved oligomeric Golgi complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Golgi apparatus membrane ; Peripheral membrane protein ; Cytoplasmic side Belongs to the COG1 family. Golgi membrane Golgi apparatus intra-Golgi vesicle-mediated transport protein transport membrane Golgi transport complex uc007mer.1 uc007mer.2 uc007mer.3 uc007mer.4 
ENSMUST00000018816.14 Copz2 ENSMUST00000018816.14 coatomer protein complex, subunit zeta 2 (from RefSeq NM_019877.2) A2A6D6 COPZ2_MOUSE ENSMUST00000018816.1 ENSMUST00000018816.10 ENSMUST00000018816.11 ENSMUST00000018816.12 ENSMUST00000018816.13 ENSMUST00000018816.2 ENSMUST00000018816.3 ENSMUST00000018816.4 ENSMUST00000018816.5 ENSMUST00000018816.6 ENSMUST00000018816.7 ENSMUST00000018816.8 ENSMUST00000018816.9 NM_019877 Q9JHH9 uc007lcu.1 uc007lcu.2 uc007lcu.3 The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin- coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. The zeta subunit may be involved in regulating the coat assembly and, hence, the rate of biosynthetic protein transport due to its association-dissociation properties with the coatomer complex. Oligomeric complex. Cytoplasm, cytosol Endoplasmic reticulum-Golgi intermediate compartment membrane ; Peripheral membrane protein ; Cytoplasmic side Golgi apparatus membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasmic vesicle, COPI-coated vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side Note=The coatomer is cytoplasmic or polymerized on the cytoplasmic side of the Golgi, as well as on the vesicles/buds originating from it. Shows a significant preference for ERGIC and cis-Golgi apparatus compared with trans-Golgi network. Belongs to the adaptor complexes small subunit family. Golgi membrane molecular_function cytoplasm Golgi apparatus cytosol intracellular protein transport retrograde vesicle-mediated transport, Golgi to ER intra-Golgi vesicle-mediated transport protein transport membrane vesicle-mediated transport COPI vesicle coat COPI-coated vesicle COPI-coated vesicle membrane cytoplasmic vesicle endoplasmic reticulum-Golgi intermediate compartment membrane uc007lcu.1 uc007lcu.2 uc007lcu.3 
ENSMUST00000018821.9 Slc25a39 ENSMUST00000018821.9 solute carrier family 25, member 39 (from RefSeq NM_026542.3) D11Ertd333e ENSMUST00000018821.1 ENSMUST00000018821.2 ENSMUST00000018821.3 ENSMUST00000018821.4 ENSMUST00000018821.5 ENSMUST00000018821.6 ENSMUST00000018821.7 ENSMUST00000018821.8 NM_026542 Q3TTM8 Q9D8K8 S2539_MOUSE Slc25a39 uc007lrt.1 uc007lrt.2 uc007lrt.3 uc007lrt.4 uc007lrt.5 uc007lrt.6 Mitochondrial transporter required for glutathione import into mitochondria (PubMed:34707288). Glutathione, which plays key roles in oxidative metabolism, is produced exclusively in the cytosol and is imported in many organelles (By similarity). Mitochondrial glutathione is required for the activity and stability of proteins containing iron- sulfur clusters, as well as erythropoiesis (PubMed:34707288). Reaction=glutathione(in) = glutathione(out); Xref=Rhea:RHEA:74819, ChEBI:CHEBI:57925; Evidence=; Mitochondrion inner membrane ; Multi-pass membrane protein Abundant expression in bone marrow, spleen, testis and kidney. Highly express in primitive erythroblast that fill yorlk sac blood islands at early somite pair stages, and in fetal liver at 12.5 dpc. Embryonic lethality at dpc 13.5 (PubMed:34707288). Embryos are pale due to a severely anemic phenotype (PubMed:34707288). Conditional deletion in the erythroid lineage also leads to severe anemia, characterized by a complete absence of Ter119(+) cells, iron overload and increased apoptosis in fetal liver cells (PubMed:34707288). Cells lacking both Slc25a39 and Slc25a40 show defects in the activity and stability of proteins containing iron- sulfur clusters (PubMed:34707288). Belongs to the mitochondrial carrier (TC 2.A.29) family. mitochondrion mitochondrial inner membrane heme biosynthetic process membrane integral component of membrane uc007lrt.1 uc007lrt.2 uc007lrt.3 uc007lrt.4 uc007lrt.5 uc007lrt.6 
ENSMUST00000018841.3 Aatf ENSMUST00000018841.3 apoptosis antagonizing transcription factor (from RefSeq NM_019816.1) AATF_MOUSE Che1 ENSMUST00000018841.1 ENSMUST00000018841.2 NM_019816 Q7TQN1 Q8C5Q2 Q99P89 Q9JKX4 Trb uc007kqm.1 uc007kqm.2 uc007kqm.3 Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre- rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre- ribosomal RNA by the RNA exosome. May function as a general inhibitor of the histone deacetylase HDAC1. Binding to the pocket region of RB1 may displace HDAC1 from RB1/E2F complexes, leading to activation of E2F target genes and cell cycle progression. Conversely, displacement of HDAC1 from SP1 bound to the CDKN1A promoter leads to increased expression of this CDK inhibitor and blocks cell cycle progression. Also antagonizes PAWR mediated induction of aberrant amyloid peptide production in Alzheimer disease (presenile and senile dementia), although the molecular basis for this phenomenon has not been described to date. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3. Interacts with POLR2J, RB1/RB, RBL1/P107 and RBL2/P130. Interacts with PAWR and SP1. May also bind MAPT. Nucleus, nucleolus Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9JKX4-1; Sequence=Displayed; Name=2; IsoId=Q9JKX4-2; Sequence=VSP_014897, VSP_014898; Name=3; IsoId=Q9JKX4-3; Sequence=VSP_014899, VSP_014900; Expressed in adrenal gland, brain (Purkinje cells), heart, kidney, liver, lung, muscle, ovary and testis (at the protein level). Expressed uniformly throughout the embryo until 10.5 dpc. From 11.5 dpc, the relative expression level increases in the liver, hind brain, spinal cord, dorsal root ganglia, and the posterior commissure. Belongs to the AATF family. protein binding nucleus nucleolus cytoplasm Golgi apparatus cytosol cellular response to DNA damage stimulus regulation of mitotic cell cycle protein kinase binding negative regulation of superoxide anion generation ribosome biogenesis negative regulation of amyloid precursor protein biosynthetic process negative regulation of apoptotic process leucine zipper domain binding nuclear transcription factor complex positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter tau protein binding negative regulation of reactive oxygen species metabolic process negative regulation of apoptotic signaling pathway uc007kqm.1 uc007kqm.2 uc007kqm.3 
ENSMUST00000018842.14 Lhx1 ENSMUST00000018842.14 LIM homeobox protein 1 (from RefSeq NM_008498.3) ENSMUST00000018842.1 ENSMUST00000018842.10 ENSMUST00000018842.11 ENSMUST00000018842.12 ENSMUST00000018842.13 ENSMUST00000018842.2 ENSMUST00000018842.3 ENSMUST00000018842.4 ENSMUST00000018842.5 ENSMUST00000018842.6 ENSMUST00000018842.7 ENSMUST00000018842.8 ENSMUST00000018842.9 Lhx1 NM_008498 Q569N5 Q569N5_MOUSE uc007kqo.1 uc007kqo.2 uc007kqo.3 Potential transcription factor. May play a role in early mesoderm formation and later in lateral mesoderm differentiation and neurogenesis. Interacts with LDB1 via the tandem LIM domains. Nucleus DNA binding nucleus regulation of transcription, DNA-templated metanephric part of ureteric bud development sequence-specific DNA binding cellular response to fibroblast growth factor stimulus metal ion binding mesonephric tubule development mesonephric duct development metanephric glomerulus development metanephric comma-shaped body morphogenesis metanephric S-shaped body morphogenesis uc007kqo.1 uc007kqo.2 uc007kqo.3 
ENSMUST00000018851.14 Dync1h1 ENSMUST00000018851.14 dynein cytoplasmic 1 heavy chain 1 (from RefSeq NM_030238.2) DYHC1_MOUSE Dhc1 Dnch1 Dnchc1 Dyhc E9QM71 ENSMUST00000018851.1 ENSMUST00000018851.10 ENSMUST00000018851.11 ENSMUST00000018851.12 ENSMUST00000018851.13 ENSMUST00000018851.2 ENSMUST00000018851.3 ENSMUST00000018851.4 ENSMUST00000018851.5 ENSMUST00000018851.6 ENSMUST00000018851.7 ENSMUST00000018851.8 ENSMUST00000018851.9 NM_030238 Q9JHU4 uc007pbo.1 uc007pbo.2 uc007pbo.3 Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Plays a role in mitotic spindle assembly and metaphase plate congression. Homodimer. The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non- catalytic subunits. The ICs and LICs bind directly to the HC dimer and dynein LCs assemble on the IC dimer. Interacts with DYNC1LI1; DYNC1LI1 and DYNC1LI2 bind mutually exclusive to DYNC1H1. Interacts with DYNC1LI2; DYNC1LI1 and DYNC1LI2 bind mutually exclusive to DYNC1H1. Interacts with DYNC1I2 (By similarity). Interacts with BICD2 (PubMed:22956769). Interacts with DNALI1 (PubMed:16496424). Q9JHU4; P07141: Csf1; NbExp=2; IntAct=EBI-645061, EBI-777188; Cytoplasm, cytoskeleton. Dynein heavy chains probably consist of an N-terminal stem (which binds cargo and interacts with other dynein components), and the head or motor domain. The motor contains six tandemly-linked AAA domains in the head, which form a ring. A stalk-like structure (formed by two of the coiled coil domains) protrudes between AAA 4 and AAA 5 and terminates in a microtubule-binding site. A seventh domain may also contribute to this ring; it is not clear whether the N-terminus or the C-terminus forms this extra domain. There are four well-conserved and two non-conserved ATPase sites, one per AAA domain. Probably only one of these (within AAA 1) actually hydrolyzes ATP, the others may serve a regulatory function. Note=Defects in Dync1h1 are the cause of the 'Legs at odd angles' (LOA) phenotype, an autosomal dominant trait where affected animals display unusual twisting of the body and clenching of the hindlimbs when suspended by the tail. Heterozygotes suffer age-related progressive loss of muscle tone and locomotor ability without major reduction in life-span while homozygotes show a more severe phenotype with an inability to move or feed, and die within 24 hours of birth. LOA mutants display defects in migration of facial motor neuron cell bodies and impaired retrograde transport in spinal cord motor neurons. Note=Defects in Dync1h1 are the cause of the Cramping 1 (Cra1) phenotype, an autosomal dominant trait where affected animals display unusual twisting of the body and clenching of the hindlimbs when suspended by the tail. Heterozygotes suffer age-related progressive loss of muscle tone and locomotor ability without major reduction in life-span while homozygotes show a more severe phenotype with an inability to move or feed, and die within 24 hours of birth. Belongs to the dynein heavy chain family. nucleotide binding mitotic cell cycle manchette cilium movement motor activity microtubule motor activity protein binding ATP binding nuclear envelope cytoplasm centrosome cytoskeleton cytoplasmic dynein complex microtubule cytoplasmic microtubule cell cortex microtubule-based movement cell cycle nuclear migration retrograde axonal transport ATP-dependent microtubule motor activity, minus-end-directed filopodium dynein complex axon cytoplasmic microtubule organization positive regulation of intracellular transport cytoplasmic mRNA processing body assembly stress granule assembly neuronal cell body dynein intermediate chain binding establishment of spindle localization cell division dynein light intermediate chain binding regulation of mitotic spindle organization minus-end-directed vesicle transport along microtubule regulation of metaphase plate congression axon cytoplasm uc007pbo.1 uc007pbo.2 uc007pbo.3 
ENSMUST00000018875.13 Ap2b1 ENSMUST00000018875.13 adaptor-related protein complex 2, beta 1 subunit, transcript variant 1 (from RefSeq NM_001035854.2) AP2B1_MOUSE Clapb1 ENSMUST00000018875.1 ENSMUST00000018875.10 ENSMUST00000018875.11 ENSMUST00000018875.12 ENSMUST00000018875.2 ENSMUST00000018875.3 ENSMUST00000018875.4 ENSMUST00000018875.5 ENSMUST00000018875.6 ENSMUST00000018875.7 ENSMUST00000018875.8 ENSMUST00000018875.9 NM_001035854 Q80XJ4 Q9DBG3 uc007kot.1 uc007kot.2 uc007kot.3 uc007kot.4 Component of the adaptor protein complex 2 (AP-2). Adaptor protein complexes function in protein transport via transport vesicles in different membrane traffic pathways. Adaptor protein complexes are vesicle coat components and appear to be involved in cargo selection and vesicle formation. AP-2 is involved in clathrin-dependent endocytosis in which cargo proteins are incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with the early endosome. The clathrin lattice serves as a mechanical scaffold but is itself unable to bind directly to membrane components. Clathrin-associated adaptor protein (AP) complexes which can bind directly to both the clathrin lattice and to the lipid and protein components of membranes are considered to be the major clathrin adaptors contributing the CCV formation. AP-2 also serves as a cargo receptor to selectively sort the membrane proteins involved in receptor-mediated endocytosis. AP-2 seems to play a role in the recycling of synaptic vesicle membranes from the presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi) and [ED]-X-X-X-L- [LI] endocytosis signal motifs within the cytosolic tails of transmembrane cargo molecules. AP-2 may also play a role in maintaining normal post-endocytic trafficking through the ARF6-regulated, non- clathrin pathway. During long-term potentiation in hippocampal neurons, AP-2 is responsible for the endocytosis of ADAM10 (PubMed:23676497). The AP-2 beta subunit acts via its C-terminal appendage domain as a scaffolding platform for endocytic accessory proteins; at least some clathrin-associated sorting proteins (CLASPs) are recognized by their [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif. The AP-2 beta subunit binds to clathrin heavy chain, promoting clathrin lattice assembly; clathrin displaces at least some CLASPs from AP2B1 which probably then can be positioned for further coat assembly (By similarity). Adaptor protein complex 2 (AP-2) is a heterotetramer composed of two large adaptins (alpha-type subunit AP2A1 or AP2A2 and beta-type subunit AP2B1), a medium adaptin (mu-type subunit AP2M1) and a small adaptin (sigma-type subunit AP2S1) (By similarity). Interacts with EPN1 (By similarity). Interacts with EPS15; clathrin competes with EPS15 (By similarity). Interacts with SNAP91; clathrin competes with SNAP91 (By similarity). Interacts with CLTC; clathrin competes with EPS15, SNAP91 and PIP5K1C (By similarity). Interacts with LDLRAP1 (By similarity). Interacts with AMPH and BIN1 (By similarity). Interacts with ARF6 (GDP- bound) (By similarity). Interacts (dephosphorylated at Tyr-737) with ARRB1; phosphorylation of AP2B1 at Tyr-737 disrupts the interaction (By similarity). Interacts with SLC2A8 (By similarity). Interacts with SCYL1 and SCYL2. Interacts with TGFBR1 and TGFBR2 (By similarity). Interacts with PIP5K1C; clathrin competes with PIP5K1C (By similarity). Interacts with DENND1B (By similarity). Interacts with FCHO1 (By similarity). Interacts with RFTN1 (By similarity). Interacts with KIAA1107 (PubMed:29262337). Together with AP2A1 or AP2A2 and AP2M1, it interacts with ADAM10; this interaction facilitates ADAM10 endocytosis from the plasma membrane during long-term potentiation in hippocampal neurons (PubMed:23676497). Q9DBG3; Q64729: Tgfbr1; NbExp=2; IntAct=EBI-775229, EBI-2899393; Q9DBG3; P48023: FASLG; Xeno; NbExp=2; IntAct=EBI-775229, EBI-495538; Q9DBG3-1; O70161: Pip5k1c; NbExp=3; IntAct=EBI-775239, EBI-773657; Q9DBG3-2; O70161: Pip5k1c; NbExp=8; IntAct=EBI-7257021, EBI-773657; Cell membrane Membrane, coated pit ; Peripheral membrane protein ; Cytoplasmic side Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9DBG3-1; Sequence=Displayed; Name=2; IsoId=Q9DBG3-2; Sequence=VSP_011491; Expressed in the brain (at protein level). Belongs to the adaptor complexes large subunit family. cardiac septum development ventricular septum development protein binding plasma membrane clathrin-coated pit intracellular protein transport endocytosis heart development protein transport membrane vesicle-mediated transport membrane coat clathrin coat AP-2 adaptor complex clathrin adaptor complex clathrin binding aorta development macromolecular complex binding positive regulation of endocytosis clathrin coat assembly coronary vasculature development clathrin-dependent endocytosis postsynapse postsynaptic neurotransmitter receptor internalization glutamatergic synapse neurotransmitter receptor internalization negative regulation of neuron death positive regulation of protein localization to membrane uc007kot.1 uc007kot.2 uc007kot.3 uc007kot.4 
ENSMUST00000018877.9 Pex12 ENSMUST00000018877.9 peroxisomal biogenesis factor 12, transcript variant 1 (from RefSeq NM_134025.4) ENSMUST00000018877.1 ENSMUST00000018877.2 ENSMUST00000018877.3 ENSMUST00000018877.4 ENSMUST00000018877.5 ENSMUST00000018877.6 ENSMUST00000018877.7 ENSMUST00000018877.8 NM_134025 PEX12_MOUSE Q8VC48 uc007koq.1 uc007koq.2 uc007koq.3 Component of a retrotranslocation channel required for peroxisome organization by mediating export of the PEX5 receptor from peroxisomes to the cytosol, thereby promoting PEX5 recycling (By similarity). The retrotranslocation channel is composed of PEX2, PEX10 and PEX12; each subunit contributing transmembrane segments that coassemble into an open channel that specifically allows the passage of PEX5 through the peroxisomal membrane (By similarity). PEX12 also regulates PEX5 recycling by activating the E3 ubiquitin-protein ligase activity of PEX10 (By similarity). When PEX5 recycling is compromised, PEX12 stimulates PEX10-mediated polyubiquitination of PEX5, leading to its subsequent degradation (By similarity). Protein modification; protein ubiquitination. Component of the PEX2-PEX10-PEX12 retrotranslocation channel, composed of PEX2, PEX10 and PEX12. Interacts with PEX19 via its cytoplasmic domain. Peroxisome membrane ; Multi-pass membrane protein The three subunits of the retrotranslocation channel (PEX2, PEX10 and PEX12) coassemble in the membrane into a channel with an open 10 Angstrom pore. The RING-type zinc-fingers that catalyze PEX5 receptor ubiquitination are positioned above the pore on the cytosolic side of the complex. The RING-type zinc-finger is degenerated and only coordinates one zinc ions, preventing E3 ubiquitin-protein ligase activity. Belongs to the pex2/pex10/pex12 family. ubiquitin-protein transferase activity peroxisome peroxisomal membrane integral component of peroxisomal membrane protein monoubiquitination protein targeting to peroxisome peroxisome organization protein C-terminus binding zinc ion binding protein transport membrane integral component of membrane protein import into peroxisome matrix metal ion binding peroxisomal importomer complex uc007koq.1 uc007koq.2 uc007koq.3 
ENSMUST00000018880.14 Ndel1 ENSMUST00000018880.14 nudE neurodevelopment protein 1 like 1, transcript variant 1 (from RefSeq NM_023668.3) ENSMUST00000018880.1 ENSMUST00000018880.10 ENSMUST00000018880.11 ENSMUST00000018880.12 ENSMUST00000018880.13 ENSMUST00000018880.2 ENSMUST00000018880.3 ENSMUST00000018880.4 ENSMUST00000018880.5 ENSMUST00000018880.6 ENSMUST00000018880.7 ENSMUST00000018880.8 ENSMUST00000018880.9 NDEL1_MOUSE NM_023668 Nudel Q9D0Q4 Q9EPT6 Q9ERR1 uc007joc.1 uc007joc.2 uc007joc.3 uc007joc.4 uc007joc.5 uc007joc.6 Required for organization of the cellular microtubule array and microtubule anchoring at the centrosome. May regulate microtubule organization at least in part by targeting the microtubule severing protein KATNA1 to the centrosome. Also positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus ends. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the centripetal motion of secretory vesicles and the coupling of the nucleus and centrosome. Also required during brain development for the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Plays a role, together with DISC1, in the regulation of neurite outgrowth. Required for mitosis in some cell types but appears to be dispensible for mitosis in cortical neuronal progenitors, which instead requires NDE1. Facilitates the polymerization of neurofilaments from the individual subunits NEFH and NEFL. Positively regulates lysosome peripheral distribution and ruffled border formation in osteoclasts (PubMed:27777970). Interacts with PLEKHM1 (via N- and C-terminus) (PubMed:27777970). Interacts with dynactin, PCM1 and PCNT. Interacts (via C-terminus) with CENPF (By similarity). Self-associates. Interacts with DISC1, dynein, tubulin gamma, KATNA1, KATNB1, microtubules, PAFAHB1 and YWHAE. Interacts directly with NEFL and indirectly with NEFH. Interacts with ZNF365 (By similarity). Q9ERR1; Q9ERR1: Ndel1; NbExp=3; IntAct=EBI-646668, EBI-646668; Q9ERR1; P63005: Pafah1b1; NbExp=9; IntAct=EBI-646668, EBI-917499; Q9ERR1; P62259: Ywhae; NbExp=7; IntAct=EBI-646668, EBI-356480; Q9ERR1; Q9NRI5: DISC1; Xeno; NbExp=2; IntAct=EBI-646668, EBI-529989; Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome, centromere, kinetochore Cytoplasm, cytoskeleton, spindle. Note=Localizes to the kinetochore in a CENPF-dependent manner. Colocalizes with DISC1 in the perinuclear region, including the centrosome (By similarity). Localizes to the interphase centrosome and the mitotic spindle. Localizes to the cell body of the motor neurons and colocalizes with assembled neurofilaments within axonal processes. Localizes to the microtubules of the manchette in elongated spermatids. Localizes to the interphase centrosome and the mitotic spindle. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9ERR1-1; Sequence=Displayed; Name=2; IsoId=Q9ERR1-2; Sequence=VSP_019311; Expressed in brain, liver, lung and testis (at protein level). Expressed in brain, epididymis, eye, heart, kidney, large intestine, liver, ovary, pancreas, prostate, skeletal muscle, smooth muscle, spleen, submaxillary gland, testis, thymus and thyroid. Within the brain expression is pronounced in the cortex, hippocampus, olfactory bulb, striatum, thalamic and hypothalamic structures and in the molecular layer of the cerebellum. Largely excluded from cortical progenitor cells which express NDE1. Expression in the brain is detectable from 7 dpc, rises at 15 dpc and 17 dpc and peaks at P5. Enriched in the developing cortex, particularly in neuroblasts of the ventricular zone and postmitotic migrating cortical plate neurons. Interaction with DISC1 in the brain is developmentally regulated, peaking at 17 dpc and decreasing at P16 so as to be undetectable in the adult brain. Expressed in the testis from P12, when zygotene spermatocytes first appear, and expression subsequently rises at P27. Phosphorylated by CDK1 and MAPK1 (By similarity). Phosphorylated in mitosis. Phosphorylated by CDK5. Phosphorylation by CDK5 promotes interaction with KATNA1 and YWHAE. Palmitoylation at Cys-273 reduces affinity for dynein. Belongs to the nudE family. establishment of mitotic spindle orientation microtubule cytoskeleton organization chromosome, centromeric region kinetochore condensed chromosome kinetochore neuron migration inner cell mass cell proliferation protein binding nuclear envelope chromosome cytoplasm centrosome microtubule organizing center spindle cytosol cytoskeleton kinesin complex microtubule microtubule associated complex proteolysis microtubule nucleation chromosome segregation mitotic centrosome separation multicellular organism development nervous system development microtubule binding synaptic vesicle retrograde axonal transport insulin receptor signaling pathway regulation of neuron projection development cell migration cerebral cortex radially oriented cell migration central nervous system neuron axonogenesis cell differentiation axon neuron projection development cell leading edge lysosome localization regulation of intracellular protein transport identical protein binding alpha-tubulin binding axon hillock positive regulation of GTPase activity cell body macromolecular complex binding positive regulation of axon extension vesicle transport along microtubule beta-tubulin binding positive regulation of axon regeneration nuclear envelope disassembly establishment of chromosome localization centrosome localization neurofilament cytoskeleton organization neurofilament cytoskeleton oligopeptidase activity activation of GTPase activity central region of growth cone positive regulation of ruffle assembly axon cytoplasm neuron projection extension regulation of microtubule motor activity canonical Wnt signaling pathway uc007joc.1 uc007joc.2 uc007joc.3 uc007joc.4 uc007joc.5 uc007joc.6 
ENSMUST00000018896.14 Tnfsf13 ENSMUST00000018896.14 tumor necrosis factor (ligand) superfamily, member 13, transcript variant 1 (from RefSeq NM_023517.2) ENSMUST00000018896.1 ENSMUST00000018896.10 ENSMUST00000018896.11 ENSMUST00000018896.12 ENSMUST00000018896.13 ENSMUST00000018896.2 ENSMUST00000018896.3 ENSMUST00000018896.4 ENSMUST00000018896.5 ENSMUST00000018896.6 ENSMUST00000018896.7 ENSMUST00000018896.8 ENSMUST00000018896.9 NM_023517 Q5F2A4 Q5F2A4_MOUSE Tnfsf13 uc007jre.1 uc007jre.2 uc007jre.3 Secreted Belongs to the tumor necrosis factor family. cytokine activity tumor necrosis factor receptor binding extracellular space cytoplasm immune response signal transduction membrane integral component of membrane positive regulation of isotype switching to IgA isotypes uc007jre.1 uc007jre.2 uc007jre.3 
ENSMUST00000018905.12 Mpdu1 ENSMUST00000018905.12 mannose-P-dolichol utilization defect 1, transcript variant 4 (from RefSeq NR_125917.1) ENSMUST00000018905.1 ENSMUST00000018905.10 ENSMUST00000018905.11 ENSMUST00000018905.2 ENSMUST00000018905.3 ENSMUST00000018905.4 ENSMUST00000018905.5 ENSMUST00000018905.6 ENSMUST00000018905.7 ENSMUST00000018905.8 ENSMUST00000018905.9 Mpdu1 NR_125917 Q8R0J2 Q8R0J2_MOUSE uc007jqv.1 uc007jqv.2 uc007jqv.3 uc007jqv.4 uc007jqv.5 This gene encodes a member of the PQ-loop superfamily. A similar gene in human encodes a protein that is required for monosaccharide-P-dolichol-dependent glycosyltransferase reactions, and disruption of this gene is the cause of congenital disorder of glycosylation (CDG) type 1F, a disease linked to defects in protein N-glycosylation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]. Required for normal utilization of mannose-dolichol phosphate (Dol-P-Man) in the synthesis of N-linked and O-linked oligosaccharides and GPI anchors. Membrane ulti-pass membrane protein Belongs to the MPDU1 (TC 2.A.43.3) family. oligosaccharide biosynthetic process membrane integral component of membrane uc007jqv.1 uc007jqv.2 uc007jqv.3 uc007jqv.4 uc007jqv.5 
ENSMUST00000018909.4 Fxr2 ENSMUST00000018909.4 FMR1 autosomal homolog 2 (from RefSeq NM_011814.2) ENSMUST00000018909.1 ENSMUST00000018909.2 ENSMUST00000018909.3 Fxr2 Fxr2h NM_011814 Q6P5B5 Q6P5B5_MOUSE uc007jqt.1 uc007jqt.2 uc007jqt.3 Cytoplasm, Cytoplasmic ribonucleoprotein granule Postsynapse Synapse Belongs to the FMR1 family. nucleic acid binding RNA binding mRNA binding cytoplasm cytosol regulation of translation identical protein binding protein homodimerization activity protein heterodimerization activity uc007jqt.1 uc007jqt.2 uc007jqt.3 
ENSMUST00000018914.3 Atp5mc3 ENSMUST00000018914.3 ATP synthase membrane subunit c locus 3, transcript variant 2 (from RefSeq NM_175015.3) Atp5g3 Atp5mc3 ENSMUST00000018914.1 ENSMUST00000018914.2 NM_175015 Q14BC2 Q14BC2_MOUSE uc008kdm.1 uc008kdm.2 uc008kdm.3 The protein encoded by this gene is a subunit of mitochondrial membrane ATP synthase, the enzyme that catalyzes ATP synthesis during oxidative phosphorylation. This gene encodes subunit 9, which is present in multiple copies in the transmembrane part of the ATP synthase complex. Phenotype and gene expression profiles suggest correlations between this gene and alcoholism- and obesity-related phenotypes. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Sep 2014]. Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element. Membrane ; Multi- pass membrane protein Mitochondrion membrane ; Multi-pass membrane protein Belongs to the ATPase C chain family. ion transport lipid binding hydrogen ion transmembrane transporter activity ATP synthesis coupled proton transport membrane integral component of membrane proton-transporting two-sector ATPase complex, proton-transporting domain proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transport uc008kdm.1 uc008kdm.2 uc008kdm.3 
ENSMUST00000018965.4 Avpi1 ENSMUST00000018965.4 arginine vasopressin-induced 1 (from RefSeq NM_027106.4) AVPI1_MOUSE ENSMUST00000018965.1 ENSMUST00000018965.2 ENSMUST00000018965.3 NM_027106 Q9D7H4 uc008hnh.1 uc008hnh.2 uc008hnh.3 May be involved in MAP kinase activation, epithelial sodium channel (ENaC) down-regulation and cell cycling. By vasopressin. activation of MAPK activity molecular_function cellular_component cell cycle uc008hnh.1 uc008hnh.2 uc008hnh.3 
ENSMUST00000018966.8 Sfrp5 ENSMUST00000018966.8 secreted frizzled-related sequence protein 5 (from RefSeq NM_018780.3) A0A0R4J001 A0A0R4J001_MOUSE ENSMUST00000018966.1 ENSMUST00000018966.2 ENSMUST00000018966.3 ENSMUST00000018966.4 ENSMUST00000018966.5 ENSMUST00000018966.6 ENSMUST00000018966.7 NM_018780 Sfrp5 uc008hnl.1 uc008hnl.2 uc008hnl.3 Belongs to the secreted frizzled-related protein (sFRP) family. Lacks conserved residue(s) required for the propagation of feature annotation. extracellular region multicellular organism development negative regulation of cell proliferation Wnt signaling pathway regulation of Wnt signaling pathway regulation of BMP signaling pathway negative regulation of sequence-specific DNA binding transcription factor activity negative regulation of protein kinase B signaling negative regulation of canonical Wnt signaling pathway negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis uc008hnl.1 uc008hnl.2 uc008hnl.3 
ENSMUST00000018985.15 Rad51d ENSMUST00000018985.15 RAD51 paralog D, transcript variant 7 (from RefSeq NR_102718.1) ENSMUST00000018985.1 ENSMUST00000018985.10 ENSMUST00000018985.11 ENSMUST00000018985.12 ENSMUST00000018985.13 ENSMUST00000018985.14 ENSMUST00000018985.2 ENSMUST00000018985.3 ENSMUST00000018985.4 ENSMUST00000018985.5 ENSMUST00000018985.6 ENSMUST00000018985.7 ENSMUST00000018985.8 ENSMUST00000018985.9 NR_102718 Q3UGT8 Q3UGT8_MOUSE Rad51d Rad51l3 uc007knm.1 uc007knm.2 uc007knm.3 uc007knm.4 This gene belongs to the Rad51 gene family whose products play a major role in homologous recombination and DNA repair. The encoded protein interacts with other proteins of this family, including Rad51b, Rad51c and Xrcc2, and plays an essential role in both DNA repair and telomere maintenance. In humans, germline mutations in this gene may be associated with predisposition to ovarian cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]. Nucleus four-way junction DNA binding telomere maintenance double-strand break repair via homologous recombination chromosome, telomeric region nuclear chromosome, telomeric region DNA binding single-stranded DNA binding ATP binding replication fork centrosome DNA repair DNA-dependent ATPase activity Rad51B-Rad51C-Rad51D-XRCC2 complex strand invasion gamma-tubulin binding uc007knm.1 uc007knm.2 uc007knm.3 uc007knm.4 
ENSMUST00000018988.6 Fndc8 ENSMUST00000018988.6 fibronectin type III domain containing 8 (from RefSeq NM_030224.1) ENSMUST00000018988.1 ENSMUST00000018988.2 ENSMUST00000018988.3 ENSMUST00000018988.4 ENSMUST00000018988.5 FNDC8_MOUSE NM_030224 Q8BUG1 Q9D2H8 uc007knr.1 uc007knr.2 uc007knr.3 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9D2H8-1; Sequence=Displayed; Name=2; IsoId=Q9D2H8-2; Sequence=VSP_024559; molecular_function biological_process uc007knr.1 uc007knr.2 uc007knr.3 
ENSMUST00000018989.14 Unc45b ENSMUST00000018989.14 unc-45 myosin chaperone B, transcript variant 1 (from RefSeq NM_178680.5) Cmya4 ENSMUST00000018989.1 ENSMUST00000018989.10 ENSMUST00000018989.11 ENSMUST00000018989.12 ENSMUST00000018989.13 ENSMUST00000018989.2 ENSMUST00000018989.3 ENSMUST00000018989.4 ENSMUST00000018989.5 ENSMUST00000018989.6 ENSMUST00000018989.7 ENSMUST00000018989.8 ENSMUST00000018989.9 NM_178680 Q5XG72 Q8BHC5 Q8BWK3 Q8CGY6 UN45B_MOUSE uc007knv.1 uc007knv.2 uc007knv.3 uc007knv.4 Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development (PubMed:12356907, PubMed:18326487, PubMed:18478096). Is necessary for normal early lens development (By similarity). Interacts with HSP90 in an ATP-independent manner (PubMed:18326487, PubMed:18478096). Interacts with UBE4B; the interaction may target UNC45B for proteasomal degradation (By similarity). Cytoplasm, myofibril, sarcomere, Z line Cytoplasm, myofibril, sarcomere, A band Cytoplasm, perinuclear region Cytoplasm, cytosol Note=Expressed at the Z line and in the perinuclear region of myofibrils. Translocates to the A band in response to stress conditions and fibril damage. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8CGY6-1; Sequence=Displayed; Name=2; IsoId=Q8CGY6-2; Sequence=VSP_020588; Highly expressed in adult skeletal muscle and heart. Detected at intermediate levels in lung. Highly expressed in embryonic heart. Detected in fusing myoblasts during muscle cell differentiation. Highly expressed in young myotubes that are in the process of assembling and remodeling myofibrils. Subsequently, levels decrease during myotube maturation. lens development in camera-type eye cytoplasm cytosol multicellular organism development muscle organ development cell differentiation Hsp90 protein binding chaperone-mediated protein folding uc007knv.1 uc007knv.2 uc007knv.3 uc007knv.4 
ENSMUST00000018990.8 Pank3 ENSMUST00000018990.8 pantothenate kinase 3 (from RefSeq NM_145962.2) ENSMUST00000018990.1 ENSMUST00000018990.2 ENSMUST00000018990.3 ENSMUST00000018990.4 ENSMUST00000018990.5 ENSMUST00000018990.6 ENSMUST00000018990.7 NM_145962 PANK3_MOUSE Q8R2W9 uc007ilf.1 uc007ilf.2 uc007ilf.3 Catalyzes the phosphorylation of pantothenate to generate 4'- phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis. Reaction=(R)-pantothenate + ATP = (R)-4'-phosphopantothenate + ADP + H(+); Xref=Rhea:RHEA:16373, ChEBI:CHEBI:10986, ChEBI:CHEBI:15378, ChEBI:CHEBI:29032, ChEBI:CHEBI:30616, ChEBI:CHEBI:456216; EC=2.7.1.33; Evidence= Subject to allosteric regulation, exists in two distinct conformational states, a catalytically incompetent (or open) conformation stabilized by the binding of acetyl(acyl)-CoA, and a catalytically competent (or closed) conformation stabilized by ATP- binding (By similarity). Acetyl-CoA and its thioesters act as allosteric inhibitors and compete with the ATP-binding site (By similarity). Strongly inhibited by acetyl-CoA, malonyl-CoA and palmitoyl CoA and modestly inhibited by CoA (PubMed:16040613). Inhibited by calcium hopantenate (PubMed:17379144). Kinetic parameters: KM=9.5 uM for pantothenate ; KM=112.0 uM for ATP ; Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)- pantothenate: step 1/5. Homodimer. Cytoplasm Highly expressed in the liver. Belongs to the type II pantothenate kinase family. nucleotide binding pantothenate kinase activity ATP binding nucleus cytoplasm cytosol coenzyme A biosynthetic process kinase activity phosphorylation transferase activity vitamin binding protein homodimerization activity acetyl-CoA binding uc007ilf.1 uc007ilf.2 uc007ilf.3 
ENSMUST00000018992.4 Rars1 ENSMUST00000018992.4 arginyl-tRNA synthetase 1 (from RefSeq NM_025936.3) ENSMUST00000018992.1 ENSMUST00000018992.2 ENSMUST00000018992.3 NM_025936 Q3THP2 Q3TM73 Q3U8R2 Q3U930 Q5SXA8 Q8VDW1 Q9D0I9 Rars SYRC_MOUSE uc007ilh.1 uc007ilh.2 uc007ilh.3 uc007ilh.4 Forms part of a macromolecular complex that catalyzes the attachment of specific amino acids to cognate tRNAs during protein synthesis (PubMed:12060739). Modulates the secretion of AIMP1 and may be involved in generation of the inflammatory cytokine EMAP2 from AIMP1. Reaction=ATP + L-arginine + tRNA(Arg) = AMP + diphosphate + L-arginyl- tRNA(Arg); Xref=Rhea:RHEA:20301, Rhea:RHEA-COMP:9658, Rhea:RHEA- COMP:9673, ChEBI:CHEBI:30616, ChEBI:CHEBI:32682, ChEBI:CHEBI:33019, ChEBI:CHEBI:78442, ChEBI:CHEBI:78513, ChEBI:CHEBI:456215; EC=6.1.1.19; Evidence=; Interacts (via N-terminus) with AIMP1 (via N-terminus); this stimulates its catalytic activity. Interacts (via N-terminus) with LARS2 (via C-terminus). Monomer (By similarity). Part of a multisubunit complex that groups tRNA ligases for Arg (RARS1), Asp (DARS1), Gln (QARS1), Ile (IARS1), Leu (LARS1), Lys (KARS1), Met (MARS1) the bifunctional ligase for Glu and Pro (EPRS1) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:12060739). Interacts with QARS1. Part of a complex composed of RARS1, QARS1 and AIMP1 (By similarity). Cytoplasm Cytoplasm, cytosol The alpha-helical N-terminus (residues 1-72) mediates interaction with AIMP1 and thereby contributes to the assembly of the multisynthetase complex. Belongs to the class-I aminoacyl-tRNA synthetase family. tRNA binding nucleotide binding aminoacyl-tRNA ligase activity arginine-tRNA ligase activity ATP binding nucleus nucleoplasm cytoplasm mitochondrion cytosol translation tRNA aminoacylation for protein translation arginyl-tRNA aminoacylation ligase activity aminoacyl-tRNA synthetase multienzyme complex arginine binding uc007ilh.1 uc007ilh.2 uc007ilh.3 uc007ilh.4 
ENSMUST00000018993.7 Wwc1 ENSMUST00000018993.7 WW, C2 and coiled-coil domain containing 1 (from RefSeq NM_170779.2) ENSMUST00000018993.1 ENSMUST00000018993.2 ENSMUST00000018993.3 ENSMUST00000018993.4 ENSMUST00000018993.5 ENSMUST00000018993.6 KIBRA_MOUSE Kiaa0869 NM_170779 Q571D0 Q5SXA9 Q8K1Y3 Q8VD17 Q922W3 uc007ili.1 uc007ili.2 uc007ili.3 Negative regulator of the Hippo signaling pathway, also known as the Salvador-Warts-Hippo (SWH) pathway. Enhances phosphorylation of LATS1 and YAP1 and negatively regulates cell proliferation and organ growth due to a suppression of the transcriptional activity of YAP1, the major effector of the Hippo pathway. Along with NF2 can synergistically induce the phosphorylation of LATS1 and LATS2 and function in the regulation of Hippo signaling pathway. Acts as a transcriptional coactivator of ESR1 which plays an essential role in DYNLL1-mediated ESR1 transactivation. Modulates directional migration of podocytes. May be associated with memory performance (By similarity). Regulates collagen-stimulated activation of the ERK/MAPK cascade (PubMed:18190796). Plays an important role in regulating AMPA- selective glutamate receptors (AMPARs) trafficking (PubMed:31730661, PubMed:21943600). Homodimer. Forms heterodimers with WWC2 and WWC3. Interacts with DDN. Interacts with DYNLL1 and histone H3. The interaction with DYNLL1 is mandatory for the recruitment and transactivation functions of ESR1 or DYNLL1 to the target chromatin and the interaction with histone H3 ensures proper regulatory interaction of WWC1-DYNLL1-ESR1 complexes with target chromatin. Interacts (via WW domains) with DDR1 (via PPxY motif) in a collagen-regulated manner. Interacts with PRKCZ (via the protein kinase domain). Forms a tripartite complex with DDR1 and PRKCZ, but predominantly in the absence of collagen. Interacts (via the ADDV motif) with PATJ (via PDZ domain 8). Interacts (via WW domains) with SYNPO (via PPxY motifs). Interacts with NF2 and SNX4 (By similarity). Interacts with CCDC141; retains AMPAR in the cytosol after internalization (PubMed:31730661). Interacts with DLC1 and PRKCZ (By similarity). Interacts (via WW domains) with LATS1 and LATS2 (By similarity). Cytoplasm toplasm, perinuclear region Nucleus Cell projection, ruffle membrane Cytoplasm, cytosol Note=Colocalizes with PRKCZ in the perinuclear region. Mammary epithelium. Expressed in mammary tissue throughout development (at protein level). Strongly up-regulated during pregnancy, falls during lactation and is again up-regulated during involution of the gland at weaning. The C2-domain mediates homodimerization. Phosphorylation at Ser-542 and Ser-923 by CDK1 in response to spindle damage stress regulates mitotic exit, these two sites are dephosphorylated by CDC14B. Deficient mice have significant deficits in hippocampal long-term potentiation (LTP) and long-term depression (LTD)vcand have profound learning and memory defects. Belongs to the WWC family. KIBRA subfamily. Sequence=AAH06733.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=AAH37006.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; negative regulation of transcription from RNA polymerase II promoter transcription coactivator activity nucleus cytoplasm cytosol plasma membrane membrane cell migration kinase binding protein binding, bridging ruffle membrane macromolecular complex regulation of hippo signaling negative regulation of hippo signaling cell projection positive regulation of MAPK cascade negative regulation of organ growth perinuclear region of cytoplasm binding, bridging positive regulation of nucleic acid-templated transcription uc007ili.1 uc007ili.2 uc007ili.3 
ENSMUST00000019012.4 Pnpla5 ENSMUST00000019012.4 patatin-like phospholipase domain containing 5 (from RefSeq NM_029427.1) ENSMUST00000019012.1 ENSMUST00000019012.2 ENSMUST00000019012.3 NM_029427 PLPL5_MOUSE Pnpla5 Q32LZ8 Q9D603 uc007xbv.1 uc007xbv.2 Has abundant triacylglycerol lipase activity. Reaction=a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+); Xref=Rhea:RHEA:12044, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17855, ChEBI:CHEBI:18035, ChEBI:CHEBI:28868; EC=3.1.1.3; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:12045; Evidence=; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q32LZ8-1; Sequence=Displayed; Name=2; IsoId=Q32LZ8-2; Sequence=VSP_026374; triglyceride lipase activity cytoplasm lipid particle lipid metabolic process membrane lipid catabolic process hydrolase activity triglyceride catabolic process lipid homeostasis uc007xbv.1 uc007xbv.2 
ENSMUST00000019026.10 Mrpl45 ENSMUST00000019026.10 mitochondrial ribosomal protein L45 (from RefSeq NM_025927.4) ENSMUST00000019026.1 ENSMUST00000019026.2 ENSMUST00000019026.3 ENSMUST00000019026.4 ENSMUST00000019026.5 ENSMUST00000019026.6 ENSMUST00000019026.7 ENSMUST00000019026.8 ENSMUST00000019026.9 NM_025927 Q3TZL8 Q8VDW2 Q9D0Q7 RM45_MOUSE uc007ldx.1 uc007ldx.2 uc007ldx.3 Component of the mitochondrial ribosome large subunit (39S) which comprises a 16S rRNA and about 50 distinct proteins. Mitochondrion Belongs to the mitochondrion-specific ribosomal protein mL45 family. mitochondrion mitochondrial large ribosomal subunit ribosome biological_process uc007ldx.1 uc007ldx.2 uc007ldx.3 
ENSMUST00000019044.8 Slc22a5 ENSMUST00000019044.8 solute carrier family 22 (organic cation transporter), member 5, transcript variant 1 (from RefSeq NM_011396.4) ENSMUST00000019044.1 ENSMUST00000019044.2 ENSMUST00000019044.3 ENSMUST00000019044.4 ENSMUST00000019044.5 ENSMUST00000019044.6 ENSMUST00000019044.7 NM_011396 Octn2 Q9Z0E8 S22A5_MOUSE Slc22a5 uc007ixc.1 uc007ixc.2 uc007ixc.3 uc007ixc.4 Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine (PubMed:10454528, PubMed:20722056). Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3 (PubMed:10454528). May also contribute to regulate the transport of organic compounds in testis across the blood-testis-barrier (By similarity). Reaction=(R)-carnitine(out) + Na(+)(out) = (R)-carnitine(in) + Na(+)(in); Xref=Rhea:RHEA:72091, ChEBI:CHEBI:16347, ChEBI:CHEBI:29101; Evidence= Reaction=glycine betaine(out) + Na(+)(out) = glycine betaine(in) + Na(+)(in); Xref=Rhea:RHEA:72115, ChEBI:CHEBI:17750, ChEBI:CHEBI:29101; Evidence=; Reaction=(R)-carnitine(in) + glycine betaine(out) = (R)-carnitine(out) + glycine betaine(in); Xref=Rhea:RHEA:72119, ChEBI:CHEBI:16347, ChEBI:CHEBI:17750; Evidence=; Reaction=Na(+)(out) + O-butanoyl-(R)-carnitine(out) = Na(+)(in) + O- butanoyl-(R)-carnitine(in); Xref=Rhea:RHEA:72123, ChEBI:CHEBI:21949, ChEBI:CHEBI:29101; Evidence=; Reaction=Na(+)(out) + O-acetyl-(R)-carnitine(out) = Na(+)(in) + O- acetyl-(R)-carnitine(in); Xref=Rhea:RHEA:72099, ChEBI:CHEBI:29101, ChEBI:CHEBI:57589; Evidence=; Reaction=Na(+)(out) + O-propanoyl-(R)-carnitine(out) = Na(+)(in) + O- propanoyl-(R)-carnitine(in); Xref=Rhea:RHEA:72103, ChEBI:CHEBI:29101, ChEBI:CHEBI:53210; Evidence=; Reaction=(S)-carnitine(out) + Na(+)(out) = (S)-carnitine(in) + Na(+)(in); Xref=Rhea:RHEA:72095, ChEBI:CHEBI:11060, ChEBI:CHEBI:29101; Evidence=; Reaction=Na(+)(out) + O-acyl-(R)-carnitine(out) = Na(+)(in) + O-acyl- (R)-carnitine(in); Xref=Rhea:RHEA:72107, ChEBI:CHEBI:29101, ChEBI:CHEBI:75659; Evidence=; Reaction=L-glutamyl-L-arginyl-glycyl-L-methionyl-L-threonine(out) + Na(+)(out) = L-glutamyl-L-arginyl-glycyl-L-methionyl-L-threonine(in) + Na(+)(in); Xref=Rhea:RHEA:72111, ChEBI:CHEBI:29101, ChEBI:CHEBI:191852; Evidence=; Reaction=N,N-dimethylglycine(out) + Na(+)(out) = N,N- dimethylglycine(in) + Na(+)(in); Xref=Rhea:RHEA:76591, ChEBI:CHEBI:29101, ChEBI:CHEBI:58251; Evidence=; Inhibited by emetine, quinidine and verapamil. The IC(50) of emetine is 4.2 uM. Not inhibited by valproic acid. Transport of (R)-carnitine is stimulated by cholesterol in the plasma membrane. Interacts with PDZK1. Apical cell membrane ; Multi-pass membrane protein Basal cell membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein Note=Colocalizes with PDZK1 on apical membranes of kidney proximal tubules (PubMed:15523054). In intestinal cells, apical expression is induced by TNF (PubMed:20722056). Widely expressed. Expressed in kidney, liver and testis (PubMed:11010964). Expressed at the brush border of the small, large intestine and colon (at protein level) (PubMed:11010964, PubMed:20722056). Intestinal expression is induced by IFNG. Note=Defects in Slc22a5 are the cause of the juvenile visceral steatosis (JVS) phenotype. JVS is an autosomal recessive animal model of systemic carnitine deficiency. Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. nucleotide binding ATP binding plasma membrane ion transport sodium ion transport mitochondrion organization adult heart development locomotory behavior carnitine metabolic process carnitine transmembrane transporter activity symporter activity quaternary ammonium group transmembrane transporter activity quaternary ammonium group transport carnitine transport membrane integral component of membrane basolateral plasma membrane apical plasma membrane transmembrane transporter activity PDZ domain binding brush border membrane reproductive structure development quorum sensing involved in interaction with host transmembrane transport positive regulation of intestinal epithelial structure maintenance sodium-dependent organic cation transport carnitine transmembrane transport uc007ixc.1 uc007ixc.2 uc007ixc.3 uc007ixc.4 
ENSMUST00000019050.12 P4ha2 ENSMUST00000019050.12 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha II polypeptide, transcript variant 2 (from RefSeq NM_011031.2) ENSMUST00000019050.1 ENSMUST00000019050.10 ENSMUST00000019050.11 ENSMUST00000019050.2 ENSMUST00000019050.3 ENSMUST00000019050.4 ENSMUST00000019050.5 ENSMUST00000019050.6 ENSMUST00000019050.7 ENSMUST00000019050.8 ENSMUST00000019050.9 NM_011031 P4ha2 Q5SX75 Q5SX75_MOUSE uc007ixk.1 uc007ixk.2 uc007ixk.3 uc007ixk.4 Catalyzes the post-translational formation of 4- hydroxyproline in -Xaa-Pro-Gly- sequences in collagens and other proteins. Name=L-ascorbate; Xref=ChEBI:CHEBI:38290; Evidence=; Endoplasmic reticulum lumen Belongs to the P4HA family. procollagen-proline 4-dioxygenase activity iron ion binding collagen trimer nucleoplasm endoplasmic reticulum cytosol oxidoreductase activity oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen peptidyl-proline hydroxylation L-ascorbic acid binding intracellular membrane-bounded organelle dioxygenase activity oxidation-reduction process uc007ixk.1 uc007ixk.2 uc007ixk.3 uc007ixk.4 
ENSMUST00000019051.3 Alox12e ENSMUST00000019051.3 arachidonate lipoxygenase, epidermal (from RefSeq NM_145684.2) Alox12e ENSMUST00000019051.1 ENSMUST00000019051.2 NM_145684 Q5F2E4 Q5F2E4_MOUSE uc007jun.1 uc007jun.2 uc007jun.3 Name=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence=; Note=Binds 1 Fe cation per subunit. ; Lipid metabolism. Belongs to the lipoxygenase family. Lacks conserved residue(s) required for the propagation of feature annotation. iron ion binding oxidoreductase activity oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen arachidonic acid metabolic process lipoxygenase pathway metal ion binding dioxygenase activity oxidation-reduction process uc007jun.1 uc007jun.2 uc007jun.3 
ENSMUST00000019058.6 Il3 ENSMUST00000019058.6 interleukin 3 (from RefSeq NM_010556.4) ENSMUST00000019058.1 ENSMUST00000019058.2 ENSMUST00000019058.3 ENSMUST00000019058.4 ENSMUST00000019058.5 Il3 NM_010556 Q5SX77 Q5SX77_MOUSE uc007ixn.1 uc007ixn.2 uc007ixn.3 Cytokine secreted predominantly by activated T-lymphocytes as well as mast cells and osteoblastic cells that controls the production and differentiation of hematopoietic progenitor cells into lineage- restricted cells. Stimulates also mature basophils, eosinophils, and monocytes to become functionally activated. In addition, plays an important role in neural cell proliferation and survival. Participates as well in bone homeostasis and inhibits osteoclast differentiation by preventing NF-kappa-B nuclear translocation and activation. Mechanistically, exerts its biological effects through a receptor composed of IL3RA subunit and a signal transducing subunit IL3RB. Receptor stimulation results in the rapid activation of JAK2 kinase activity leading to STAT5-mediated transcriptional program. Alternatively, contributes to cell survival under oxidative stress in non-hematopoietic systems by activating pathways mediated by PI3K/AKT and ERK. Secreted Belongs to the IL-3 family. cytokine activity interleukin-3 receptor binding extracellular region extracellular space immune response signal transduction growth factor activity uc007ixn.1 uc007ixn.2 uc007ixn.3 
ENSMUST00000019060.6 Csf2 ENSMUST00000019060.6 colony stimulating factor 2 (granulocyte-macrophage) (from RefSeq NM_009969.4) Csf2 ENSMUST00000019060.1 ENSMUST00000019060.2 ENSMUST00000019060.3 ENSMUST00000019060.4 ENSMUST00000019060.5 NM_009969 Q5SX78 Q5SX78_MOUSE uc007ixm.1 uc007ixm.2 uc007ixm.3 Cytokine that stimulates the growth and differentiation of hematopoietic precursor cells from various lineages, including granulocytes, macrophages, eosinophils and erythrocytes. Monomer. The signaling GM-CSF receptor complex is a dodecamer of two head-to-head hexamers of two alpha, two beta, and two ligand subunits. Secreted Belongs to the GM-CSF family. cytokine activity granulocyte macrophage colony-stimulating factor receptor binding extracellular region extracellular space immune response signal transduction growth factor activity positive regulation of cell proliferation positive regulation of gene expression positive regulation of macrophage derived foam cell differentiation macrophage differentiation positive regulation of interleukin-23 production positive regulation of tyrosine phosphorylation of STAT protein myeloid dendritic cell differentiation intracellular membrane-bounded organelle negative regulation of transcription, DNA-templated negative regulation of cytolysis positive regulation of podosome assembly cellular response to granulocyte macrophage colony-stimulating factor stimulus dendritic cell differentiation negative regulation of extrinsic apoptotic signaling pathway in absence of ligand uc007ixm.1 uc007ixm.2 uc007ixm.3 
ENSMUST00000019063.3 Tm4sf5 ENSMUST00000019063.3 transmembrane 4 superfamily member 5 (from RefSeq NM_029360.3) ENSMUST00000019063.1 ENSMUST00000019063.2 NM_029360 Q91XF2 Q91XF2_MOUSE Tm4sf5 uc007jvb.1 uc007jvb.2 uc007jvb.3 uc007jvb.4 uc007jvb.5 Membrane ; Multi- pass membrane protein Belongs to the L6 tetraspanin family. molecular_function lysosomal membrane plasma membrane biological_process membrane integral component of membrane arginine binding regulation of G1/S transition of mitotic cell cycle uc007jvb.1 uc007jvb.2 uc007jvb.3 uc007jvb.4 uc007jvb.5 
ENSMUST00000019064.9 Cxcl16 ENSMUST00000019064.9 C-X-C motif chemokine ligand 16, transcript variant 3 (from RefSeq NR_151497.1) CXL16_MOUSE ENSMUST00000019064.1 ENSMUST00000019064.2 ENSMUST00000019064.3 ENSMUST00000019064.4 ENSMUST00000019064.5 ENSMUST00000019064.6 ENSMUST00000019064.7 ENSMUST00000019064.8 NR_151497 Q3UD70 Q5F2D5 Q8BSU2 Q8VE25 Q9EPB3 Srpsox uc007juw.1 uc007juw.2 uc007juw.3 Induces a strong chemotactic response. Induces calcium mobilization. Binds to CXCR6/Bonzo. Also acts as a scavenger receptor on macrophages, which specifically binds to OxLDL (oxidized low density lipoprotein), suggesting that it may be involved in pathophysiology such as atherogenesis. Membrane ; Single-pass type I membrane protein Widely expressed. Not detected in purified B- and T-cells. Glycosylated. Belongs to the intercrine alpha (chemokine CxC) family. low-density lipoprotein receptor activity scavenger receptor activity cytokine activity extracellular space receptor-mediated endocytosis chemotaxis signal transduction chemokine activity T cell chemotaxis membrane integral component of membrane positive regulation of cell growth positive regulation of cell migration response to cytokine response to interferon-gamma response to tumor necrosis factor chemokine receptor binding lymphocyte chemotaxis cellular response to lipopolysaccharide uc007juw.1 uc007juw.2 uc007juw.3 
ENSMUST00000019065.10 Pelp1 ENSMUST00000019065.10 proline, glutamic acid and leucine rich protein 1 (from RefSeq NM_029231.5) ENSMUST00000019065.1 ENSMUST00000019065.2 ENSMUST00000019065.3 ENSMUST00000019065.4 ENSMUST00000019065.5 ENSMUST00000019065.6 ENSMUST00000019065.7 ENSMUST00000019065.8 ENSMUST00000019065.9 Mnar NM_029231 PELP1_MOUSE Q5F2E2 Q6PEM0 Q91YM9 Q9DBD5 uc007jup.1 uc007jup.2 uc007jup.3 uc007jup.4 Coactivator of estrogen receptor-mediated transcription and a corepressor of other nuclear hormone receptors and sequence-specific transcription factors. Plays a role in estrogen receptor (ER) genomic activity when present in the nuclear compartment by activating the ER target genes in a hormonal stimulation dependent manner. Can facilitate ER non-genomic signaling via SRC and PI3K interaction in the cytosol. Plays a role in E2-mediated cell cycle progression by interacting with RB1. May have important functional implications in ER/growth factor cross-talk. Interacts with several growth factor signaling components including EGFR and HRS. Functions as the key stabilizing component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (PubMed:22872859). Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit. Regulates pre-60S association of the critical remodeling factor MDN1 (By similarity). Interacts with HRS, RXRA, SUMO2, HDAC2, RB1 and STAT3. Interacts with PI3K, SRC and EGFR in cytoplasm. Interacts with ESR1, the interaction is enhanced by 17-beta-estradiol; the interaction increases ESR1 transcriptional activity (By similarity). Interacts with CREBBP and EP300 in a ligand-dependent manner (By similarity). Forms two complexes in the presence of 17-beta-estradiol; one with SRC and ESR1 and another with LCK and ESR1. Interacts with histone H1 and H3 with a greater affinity for H1. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10 (By similarity). Core component of the 5FMC complex, at least composed of PELP1, LAS1L, TEX10, WDR18 and SENP3; the complex interacts with methylated CHTOP and ZNF148. Interacts with NOL9 (PubMed:22872859). Interacts with BCAS3 (By similarity). Component of the PELP1 complex, composed of at least PELP1, TEX10 and WDR18. The complex interacts (via PELP1) with MDN1 (via its hexameric AAA ATPase ring) and the pre-60S ribosome particles (By similarity). Q9DBD5; P12813: Nr4a1; NbExp=3; IntAct=EBI-6909114, EBI-10896863; Nucleus, nucleolus Nucleus, nucleoplasm Nucleus toplasm te=Mainly found in the nucleoplasm, with low levels detected in the cytoplasm. Also found associated with the plasma membrane. Widely expressed with high levels in testis, ovary, uterus and pituitary gland. The Glu-rich region mediates histones interaction. The Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs are required for the association with nuclear receptor ESR1. Transiently sumoylated, preferentially conjugated to SUMO2 or SUMO3. Sumoylation causes nucleolar exclusion of PELP1 and promotes the recruitment of MDN1 to pre-60S particles. Desumoylation by SUMO isopeptidase SENP3 is needed to release both PELP1 and MDN1 from pre- ribosomes. Belongs to the RIX1/PELP1 family. chromatin binding protein binding nucleus nucleoplasm nucleolus cytoplasm transcription factor binding transcriptionally active chromatin positive regulation of transcription from RNA polymerase II promoter MLL1 complex cellular response to estrogen stimulus uc007jup.1 uc007jup.2 uc007jup.3 uc007jup.4 
ENSMUST00000019067.8 Med11 ENSMUST00000019067.8 mediator complex subunit 11 (from RefSeq NM_025397.3) ENSMUST00000019067.1 ENSMUST00000019067.2 ENSMUST00000019067.3 ENSMUST00000019067.4 ENSMUST00000019067.5 ENSMUST00000019067.6 ENSMUST00000019067.7 MED11_MOUSE NM_025397 Q3V4D0 Q9D8C6 uc007juv.1 uc007juv.2 uc007juv.3 uc007juv.4 Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP (By similarity). Q9D8C6; Q9NVC6: MED17; Xeno; NbExp=2; IntAct=EBI-6260909, EBI-394562; Q9D8C6; Q15528: MED22; Xeno; NbExp=2; IntAct=EBI-6260909, EBI-394687; Q9D8C6; Q9H204: MED28; Xeno; NbExp=2; IntAct=EBI-6260909, EBI-514199; Q9D8C6; Q9NX70: MED29; Xeno; NbExp=2; IntAct=EBI-6260909, EBI-394656; Nucleus Expressed in cochlea. Belongs to the Mediator complex subunit 11 family. ubiquitin ligase complex transcription cofactor activity protein binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter biological_process protein ubiquitination mediator complex ubiquitin protein ligase activity uc007juv.1 uc007juv.2 uc007juv.3 uc007juv.4 
ENSMUST00000019068.7 Alox15 ENSMUST00000019068.7 arachidonate 15-lipoxygenase (from RefSeq NM_009660.3) Alox12l Alox15 ENSMUST00000019068.1 ENSMUST00000019068.2 ENSMUST00000019068.3 ENSMUST00000019068.4 ENSMUST00000019068.5 ENSMUST00000019068.6 LOX15_MOUSE NM_009660 P39654 Q4FJY9 Q5F2E3 Q6PHB2 uc007juo.1 uc007juo.2 uc007juo.3 Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators (PubMed:8188678). It inserts peroxyl groups at C12 or C15 of arachidonate ((5Z,8Z,11Z,14Z)-eicosatetraenoate) producing both 12- hydroperoxyeicosatetraenoate/12-HPETE and 15- hydroperoxyeicosatetraenoate/15-HPETE (PubMed:8188678). It may then act on 12-HPETE to produce hepoxilins, which may show pro-inflammatory properties (By similarity). Can also peroxidize linoleate ((9Z,12Z)- octadecadienoate) to 13-hydroperoxyoctadecadienoate. May participate in the sequential oxidations of DHA ((4Z,7Z,10Z,13Z,16Z,19Z)- docosahexaenoate) to generate specialized pro-resolving mediators (SPMs)like resolvin D5 ((7S,17S)-diHPDHA) and (7S,14S)-diHPDHA, that actively down-regulate the immune response and have anti-aggregation properties with platelets. Can convert epoxy fatty acids to hydroperoxy-epoxides derivatives followed by an intramolecular nucleophilic substitution leading to the formation of monocyclic endoperoxides (By similarity). Plays an important role during the maintenance of self-tolerance by peroxidizing membrane-bound phosphatidylethanolamine which can then signal the sorting process for clearance of apoptotic cells during inflammation and prevent an autoimmune response (PubMed:22503541). In addition to its role in the immune and inflammatory responses, this enzyme may play a role in epithelial wound healing in the cornea through production of lipoxin A4 (LXA(4)) and docosahexaenoic acid-derived neuroprotectin D1 (NPD1; 10R,17S-HDHA), both lipid autacoids exhibit anti-inflammatory and neuroprotective properties (PubMed:15708862). Furthermore, it may regulate actin polymerization which is crucial for several biological processes such as the phagocytosis of apoptotic cells (PubMed:11278875). It is also implicated in the generation of endogenous ligands for peroxisome proliferator activated receptor (PPAR-gamma), hence modulating macrophage development and function (PubMed:10432118). It may also exert a negative effect on skeletal development by regulating bone mass through this pathway (PubMed:14716014). As well as participates in ER stress and downstream inflammation in adipocytes, pancreatic islets, and liver (PubMed:22215650). Finally, it is also involved in the cellular response to IL13/interleukin-13 (By similarity). Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = (12S)-hydroperoxy- (5Z,8Z,10E,14Z)-eicosatetraenoate; Xref=Rhea:RHEA:10428, ChEBI:CHEBI:15379, ChEBI:CHEBI:32395, ChEBI:CHEBI:57444; EC=1.13.11.31; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:10429; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = (15S)-hydroperoxy- (5Z,8Z,11Z,13E)-eicosatetraenoate; Xref=Rhea:RHEA:16869, ChEBI:CHEBI:15379, ChEBI:CHEBI:32395, ChEBI:CHEBI:57446; EC=1.13.11.33; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16870; Evidence=; Reaction=(9Z,12Z)-octadecadienoate + O2 = (13S)-hydroperoxy-(9Z,11E)- octadecadienoate; Xref=Rhea:RHEA:22780, ChEBI:CHEBI:15379, ChEBI:CHEBI:30245, ChEBI:CHEBI:57466; EC=1.13.11.12; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22781; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + 2 O2 = (14R,15S)- dihydroperoxy-(5Z,8Z,10E,12E)-eicosatetraenoate; Xref=Rhea:RHEA:50928, ChEBI:CHEBI:15379, ChEBI:CHEBI:32395, ChEBI:CHEBI:133900; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50929; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + 2 O2 = (8S,15S)- dihydroperoxy-(5Z,9E,11Z,13E)-eicosatetraenoate; Xref=Rhea:RHEA:50924, ChEBI:CHEBI:15379, ChEBI:CHEBI:32395, ChEBI:CHEBI:133899; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50925; Evidence=; Reaction=(14S,15R)-epoxy-(5Z,8Z,11Z)-eicosatrienoate + O2 = (8S)- hydroperoxy-(14S,15R)-epoxy-(5Z,9E,11Z)-eicosatrienoate; Xref=Rhea:RHEA:50288, ChEBI:CHEBI:15379, ChEBI:CHEBI:131964, ChEBI:CHEBI:132068; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50289; Evidence=; Reaction=(14S,15R)-epoxy-(5Z,8Z,11Z)-eicosatrienoate + O2 = (12S)- hydroperoxy-(14S,15R)-epoxy-(5Z,8Z,10E)-eicosatrienoate; Xref=Rhea:RHEA:50284, ChEBI:CHEBI:15379, ChEBI:CHEBI:131964, ChEBI:CHEBI:132065; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50285; Evidence=; Reaction=(14R,15S)-epoxy-(5Z,8Z,11Z)-eicosatrienoate + O2 = (5S)- hydroperoxy-(14R,15S)-epoxy-(6E,8Z,11Z)-eicosatrienoate; Xref=Rhea:RHEA:50280, ChEBI:CHEBI:15379, ChEBI:CHEBI:131965, ChEBI:CHEBI:132067; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50281; Evidence=; Reaction=(14R,15S)-epoxy-(5Z,8Z,11Z)-eicosatrienoate + O2 = (12S)- hydroperoxy-(14R,15S)-epoxy-(5Z,8Z,10E)-eicosatrienoate; Xref=Rhea:RHEA:50276, ChEBI:CHEBI:15379, ChEBI:CHEBI:131965, ChEBI:CHEBI:132063; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50277; Evidence=; Reaction=(15R)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate = 15-oxo- (5Z,8Z,11Z,13E)-eicosatetraenoate + H2O; Xref=Rhea:RHEA:50152, ChEBI:CHEBI:15377, ChEBI:CHEBI:57410, ChEBI:CHEBI:82626; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50153; Evidence=; Reaction=(15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate = (14S,15S)-epoxy-(5Z,8Z,10E,12E)-eicosatetraenoate + H2O; Xref=Rhea:RHEA:50140, ChEBI:CHEBI:15377, ChEBI:CHEBI:57446, ChEBI:CHEBI:132070; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50141; Evidence=; Reaction=(12S)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate = (8S)- hydroxy-(11S,12S)-epoxy-(5Z,9E,14Z)-eicosatrienoate; Xref=Rhea:RHEA:50216, ChEBI:CHEBI:57444, ChEBI:CHEBI:132129; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50217; Evidence=; Reaction=(4Z,7Z,10Z,13Z,16Z)-docosapentaenoate + O2 = 14-hydroperoxy- (4Z,7Z,10Z,12E,16Z)-docosapentaenoate; Xref=Rhea:RHEA:50824, ChEBI:CHEBI:15379, ChEBI:CHEBI:77226, ChEBI:CHEBI:133799; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50825; Evidence=; Reaction=(7Z,10Z,13Z,16Z,19Z)-docosapentaenoate + O2 = 14-hydroperoxy- (7Z,10Z,12E,16Z,19Z)-docosapentaenoate; Xref=Rhea:RHEA:50836, ChEBI:CHEBI:15379, ChEBI:CHEBI:77224, ChEBI:CHEBI:133798; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50837; Evidence=; Reaction=(4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate + O2 = (14S)- hydroperoxy-(4Z,7Z,10Z,12E,16Z,19Z)-docosahexaenoate; Xref=Rhea:RHEA:41332, ChEBI:CHEBI:15379, ChEBI:CHEBI:77016, ChEBI:CHEBI:78048; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41333; Evidence=; Reaction=(4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate + O2 = (17S)- hydroperoxy-(4Z,7Z,10Z,13Z,15E,19Z)-docosahexaenoate; Xref=Rhea:RHEA:50840, ChEBI:CHEBI:15379, ChEBI:CHEBI:77016, ChEBI:CHEBI:133795; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50841; Evidence=; Reaction=(7S)-hydroperoxy-(4Z,8E,10Z,13Z,16Z,19Z)-docosahexaenoate + O2 = (7S,14S)-dihydroperoxy-(4Z,8E,10Z,12E,16Z,19Z)-docosahexaenoate; Xref=Rhea:RHEA:64724, ChEBI:CHEBI:15379, ChEBI:CHEBI:156049, ChEBI:CHEBI:156082; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:64725; Evidence=; Reaction=(7S)-hydroperoxy-(4Z,8E,10Z,13Z,16Z,19Z)-docosahexaenoate + O2 = (7S,17S)-dihydroperoxy-(4Z,8E,10Z,13Z,15E,19Z)-docosahexaenoate; Xref=Rhea:RHEA:64728, ChEBI:CHEBI:15379, ChEBI:CHEBI:140349, ChEBI:CHEBI:156049; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:64729; Evidence=; Reaction=(4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate + O2 = (11S)- hydroperoxy-(4Z,7Z,9E,13Z,16Z,19Z)-docosahexaenoate; Xref=Rhea:RHEA:64732, ChEBI:CHEBI:15379, ChEBI:CHEBI:77016, ChEBI:CHEBI:156131; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:64733; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-taurine + O2 = N-(12S)- hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoyl-taurine; Xref=Rhea:RHEA:50160, ChEBI:CHEBI:15379, ChEBI:CHEBI:132060, ChEBI:CHEBI:132061; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50161; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-gamma-aminobutanoate + O2 = N-(12S)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoyl-gamma- aminobutanoate; Xref=Rhea:RHEA:50176, ChEBI:CHEBI:15379, ChEBI:CHEBI:132072, ChEBI:CHEBI:132075; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50177; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-glycine + O2 = N-(12S)- hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoyl-glycine; Xref=Rhea:RHEA:50168, ChEBI:CHEBI:15379, ChEBI:CHEBI:59002, ChEBI:CHEBI:132073; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50169; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-alanine + O2 = N-(12S)- hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoyl-alanine; Xref=Rhea:RHEA:50172, ChEBI:CHEBI:15379, ChEBI:CHEBI:132071, ChEBI:CHEBI:132074; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50173; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-taurine + O2 = N-(15S)- hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoyl-taurine; Xref=Rhea:RHEA:50156, ChEBI:CHEBI:15379, ChEBI:CHEBI:132060, ChEBI:CHEBI:132062; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50157; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-gamma-aminobutanoate + O2 = N-(15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoyl-gamma- aminobutanoate; Xref=Rhea:RHEA:50180, ChEBI:CHEBI:15379, ChEBI:CHEBI:132072, ChEBI:CHEBI:132078; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50181; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-glycine + O2 = N-(15S)- hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoyl-glycine; Xref=Rhea:RHEA:50188, ChEBI:CHEBI:15379, ChEBI:CHEBI:59002, ChEBI:CHEBI:132076; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50189; Evidence=; Reaction=N-(5Z,8Z,11Z,14Z)-eicosatetraenoyl-alanine + O2 = N-(15S)- hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoyl-alanine; Xref=Rhea:RHEA:50184, ChEBI:CHEBI:15379, ChEBI:CHEBI:132071, ChEBI:CHEBI:132077; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50185; Evidence=; Name=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence= Note=Binds 1 Fe cation per subunit. Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis. Interacts with PEBP1; in response to IL13/interleukin-13, prevents the interaction of PEBP1 with RAF1 to activate the ERK signaling cascade. Cytoplasm, cytosol Cell membrane ; Peripheral membrane protein Lipid droplet Note=Predominantly cytosolic; becomes enriched at membranes upon calcium binding (PubMed:11278875). Translocates from the cytosol to the plasma membrane when stimulated by IL13/interleukin-13 and in macrophages binding apoptotic cells (PubMed:11278875). Found in pituitary and pineal glands as well as leukocytes, kidney, aorta, small intestine and cornea (PubMed:15708862, PubMed:22503541, PubMed:8188678). Also expressed by resident peritoneal macrophages (at protein level) (PubMed:8798642). Up-regulated in response to endoplasmic reticulum stress (at protein level). The PLAT domain can bind calcium ions; this promotes association with membranes. Mice are fertile and do not display overt phenotype. However, reduced endoplasmic reticulum stress response to high-fat diet is observed. Aged mice also display systemic autoimmunity, a significant and spontaneous production of several forms of autoantibodies being detected and glomerulonephritis and deposits of complement and immunoglobulins within their glomeruli being observed. They also display reduced bone mass. Belongs to the lipoxygenase family. ossification negative regulation of adaptive immune response arachidonate 12-lipoxygenase activity iron ion binding phosphatidylinositol-4,5-bisphosphate binding cytoplasm lipid particle cytosol plasma membrane lipid metabolic process fatty acid metabolic process phosphatidylethanolamine biosynthetic process lipid binding positive regulation of cell-substrate adhesion membrane oxidoreductase activity oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen arachidonic acid metabolic process lipoxygenase pathway bone mineralization positive regulation of actin filament polymerization extrinsic component of cytoplasmic side of plasma membrane positive regulation of heterotypic cell-cell adhesion response to endoplasmic reticulum stress regulation of peroxisome proliferator activated receptor signaling pathway cellular response to interleukin-13 wound healing apoptotic cell clearance metal ion binding hepoxilin-epoxide hydrolase activity arachidonate 15-lipoxygenase activity hepoxilin A3 synthase activity hepoxilin biosynthetic process dioxygenase activity oxidation-reduction process positive regulation of ERK1 and ERK2 cascade cellular response to calcium ion regulation of engulfment of apoptotic cell lipoxin A4 biosynthetic process uc007juo.1 uc007juo.2 uc007juo.3 
ENSMUST00000019069.4 Heatr9 ENSMUST00000019069.4 HEAT repeat containing 9 (from RefSeq NM_001045543.2) ENSMUST00000019069.1 ENSMUST00000019069.2 ENSMUST00000019069.3 Gm11435 HEAT9_MOUSE NM_001045543 Q5QNV8 uc007kph.1 uc007kph.2 uc007kph.3 uc007kph.4 Despite its name, the presence of HEAT repeat is unsure and is not confirmed by repeat-detection programs. hematopoietic progenitor cell differentiation cellular_component uc007kph.1 uc007kph.2 uc007kph.3 uc007kph.4 
ENSMUST00000019071.4 Ccl6 ENSMUST00000019071.4 C-C motif chemokine ligand 6 (from RefSeq NM_009139.3) C10 CCL6_MOUSE ENSMUST00000019071.1 ENSMUST00000019071.2 ENSMUST00000019071.3 NM_009139 P27784 Q3U3W3 Q5QNW1 Q99M24 Q9D830 Scya6 uc007kpm.1 uc007kpm.2 uc007kpm.3 Chemotactic factor that attracts mostly macrophage, but it can also attract B cells, CD4(+) lymphocytes and eosinophils. Secreted. Expressed in myelopoietic bone marrow cultures stimulated by GM-CSF. Associated with stimuli that promote myeloid differentiation. The N-terminal is proteolytically cleaved by proteases associated with inflammatory responses. The processed forms CL6(22-95) and CCL6(23-95) show increase in CCR1-mediated signaling and chemotaxis assays in vitro. Belongs to the intercrine beta (chemokine CC) family. monocyte chemotaxis cytokine activity extracellular region extracellular space chemotaxis inflammatory response immune response G-protein coupled receptor signaling pathway chemokine activity neutrophil chemotaxis positive regulation of GTPase activity CCR chemokine receptor binding eosinophil chemotaxis lymphocyte chemotaxis cell chemotaxis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor uc007kpm.1 uc007kpm.2 uc007kpm.3 
ENSMUST00000019074.4 Ccl4 ENSMUST00000019074.4 C-C motif chemokine ligand 4 (from RefSeq NM_013652.2) Ccl4 ENSMUST00000019074.1 ENSMUST00000019074.2 ENSMUST00000019074.3 NM_013652 Q5QNV9 Q5QNV9_MOUSE uc007kpp.1 uc007kpp.2 Secreted Belongs to the intercrine beta (chemokine CC) family. cytokine activity extracellular region extracellular space chemotaxis immune response signal transduction chemokine activity cell chemotaxis uc007kpp.1 uc007kpp.2 
ENSMUST00000019075.4 Natd1 ENSMUST00000019075.4 N-acetyltransferase domain containing 1 (from RefSeq NM_025294.5) ENSMUST00000019075.1 ENSMUST00000019075.2 ENSMUST00000019075.3 Gm16515 Gtlf3b NATD1_MOUSE NM_025294 Q9DBW3 uc007jgu.1 uc007jgu.2 uc007jgu.3 uc007jgu.4 Expressed in the heart, testis, kidney and lung. Detected at multiple sites in embryonic day 10.5 embryos, including the genital ridges, the aortic endothelium and endothelium-associated cell clusters within the aortic lumen. Belongs to the NATD1 family. cellular_component uc007jgu.1 uc007jgu.2 uc007jgu.3 uc007jgu.4 
ENSMUST00000019076.10 Map2k3 ENSMUST00000019076.10 mitogen-activated protein kinase kinase 3, transcript variant 1 (from RefSeq NM_008928.5) ENSMUST00000019076.1 ENSMUST00000019076.2 ENSMUST00000019076.3 ENSMUST00000019076.4 ENSMUST00000019076.5 ENSMUST00000019076.6 ENSMUST00000019076.7 ENSMUST00000019076.8 ENSMUST00000019076.9 Map2k3 NM_008928 Q5SWN9 Q5SWN9_MOUSE uc007jgx.1 uc007jgx.2 uc007jgx.3 Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.12.2; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.12.2; Evidence=; Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.12.2; Evidence=; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. nucleotide binding protein kinase activity protein serine/threonine kinase activity ATP binding protein phosphorylation protein kinase binding cellular response to vascular endothelial growth factor stimulus p38MAPK cascade positive regulation of blood vessel endothelial cell migration positive regulation of protein kinase activity positive regulation of transcription, DNA-templated uc007jgx.1 uc007jgx.2 uc007jgx.3 
ENSMUST00000019109.8 Ywhah ENSMUST00000019109.8 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide (from RefSeq NM_011738.2) 1433F_MOUSE ENSMUST00000019109.1 ENSMUST00000019109.2 ENSMUST00000019109.3 ENSMUST00000019109.4 ENSMUST00000019109.5 ENSMUST00000019109.6 ENSMUST00000019109.7 NM_011738 P11576 P68510 P70198 Q3TGZ9 uc008xag.1 uc008xag.2 uc008xag.3 Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Negatively regulates the kinase activity of PDPK1 (By similarity). Homodimer (By similarity). Interacts with many nuclear hormone receptors and cofactors including AR, ESR1, ESR2, MC2R, NR3C1, NRIP1, PPARBP and THRA. Interacts with ABL1 (phosphorylated form); the interaction retains it in the cytoplasm. Weakly interacts with CDKN1B (By similarity). Interacts with ARHGEF28 and CDK16. Interacts with KCNK18 in a phosphorylation-dependent manner. Interacts with SAMSN1. Interacts with the 'Ser-241' phosphorylated form of PDPK1 (By similarity). Interacts with the 'Thr-369' phosphorylated form of DAPK2 (PubMed:26047703). Interacts with PI4KB, TBC1D22A and TBC1D22B (By similarity). Interacts with SLITRK1 (By similarity). Interacts with MEFV (By similarity). P68510; Q5S006: Lrrk2; NbExp=7; IntAct=EBI-444641, EBI-2693710; P68510; Q9WVS6: Prkn; NbExp=2; IntAct=EBI-444641, EBI-973635; P68510; O60260: PRKN; Xeno; NbExp=6; IntAct=EBI-444641, EBI-716346; P68510; P21580: TNFAIP3; Xeno; NbExp=3; IntAct=EBI-444641, EBI-527670; Cytoplasm. Phosphorylated on Ser-59 by protein kinase C delta type catalytic subunit in a sphingosine-dependent fashion. Belongs to the 14-3-3 family. regulation of sodium ion transport actin binding protein binding cytoplasm cytosol plasma membrane glucocorticoid catabolic process intracellular protein transport cytoskeleton organization regulation of mitotic nuclear division intercalated disc sodium channel regulator activity enzyme binding protein domain specific binding glucocorticoid receptor binding identical protein binding glucocorticoid receptor signaling pathway negative regulation of apoptotic process ion channel binding synapse positive regulation of transcription, DNA-templated protein heterodimerization activity negative regulation of dendrite morphogenesis membrane depolarization during action potential regulation of sodium ion transmembrane transporter activity uc008xag.1 uc008xag.2 uc008xag.3 
ENSMUST00000019117.3 Hoxb1 ENSMUST00000019117.3 homeobox B1 (from RefSeq NM_008266.6) ENSMUST00000019117.1 ENSMUST00000019117.2 HXB1_MOUSE Hox-2.9 Hoxb-1 NM_008266 P17919 Q3ZAY6 Q9CYH3 uc007lbz.1 uc007lbz.2 uc007lbz.3 uc007lbz.4 Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Nucleus. Expressed along the entire length of the primitive streak. In early neurogenesis it is expressed in lateral and paraxial mesoderm, endoderm and superficial ectoderm or in the neural tube. From late neurogenesis to mid-embryogenesis, it presents similar spatial domains in the lateral mesoderm, endoderm and superficial ectoderm but is not detectable in the posterior hindbrain and has increased dramatically in rhombomere 4. Belongs to the Antp homeobox family. Labial subfamily. RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding nucleus nucleoplasm regulation of transcription, DNA-templated multicellular organism development anatomical structure morphogenesis anterior/posterior pattern specification protein domain specific binding rhombomere development rhombomere 4 development rhombomere 5 development facial nerve structural organization facial nucleus development sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter anatomical structure formation involved in morphogenesis embryonic skeletal system morphogenesis uc007lbz.1 uc007lbz.2 uc007lbz.3 uc007lbz.4 
ENSMUST00000019118.8 Sart3 ENSMUST00000019118.8 squamous cell carcinoma antigen recognized by T cells 3, transcript variant 2 (from RefSeq NM_016926.2) ENSMUST00000019118.1 ENSMUST00000019118.2 ENSMUST00000019118.3 ENSMUST00000019118.4 ENSMUST00000019118.5 ENSMUST00000019118.6 ENSMUST00000019118.7 Kiaa0156 NM_016926 Q6ZQI2 Q8BPK9 Q8C3B7 Q8CFU9 Q9JLI8 SART3_MOUSE Sart3 uc008yym.1 uc008yym.2 uc008yym.3 U6 snRNP-binding protein that functions as a recycling factor of the splicing machinery. Promotes the initial reassembly of U4 and U6 snRNPs following their ejection from the spliceosome during its maturation. Also binds U6atac snRNPs and may function as a recycling factor for U4atac/U6atac spliceosomal snRNP, an initial step in the assembly of U12-type spliceosomal complex. The U12-type spliceosomal complex plays a role in the splicing of introns with non-canonical splice sites. May also function as a substrate-targeting factor for deubiquitinases like USP4 and USP15. Recruits USP4 to ubiquitinated PRPF3 within the U4/U5/U6 tri-snRNP complex, promoting PRPF3 deubiquitination and thereby regulating the spliceosome U4/U5/U6 tri- snRNP spliceosomal complex disassembly. May also recruit the deubiquitinase USP15 to histone H2B and mediate histone deubiquitination, thereby regulating gene expression and/or DNA repair (By similarity). May play a role in hematopoiesis probably through transcription regulation of specific genes including MYC (PubMed:21447833). Component of the 7SK snRNP complex at least composed of P-TEFb (composed of CDK9 and CCNT1/cyclin-T1), HEXIM1, HEXIM2, BCDIN3, SART3 proteins and 7SK and U6 snRNAs. Interacts with AGO1 and AGO2. Interacts with PRPF3 and USP4; the interaction with PRPF3 is direct and recruits USP4 to its substrate PRPF3. Interacts with USP15; the interaction is direct. Nucleus, nucleoplasm Nucleus, Cajal body Nucleus speckle Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9JLI8-1; Sequence=Displayed; Name=2; IsoId=Q9JLI8-2; Sequence=VSP_017252, VSP_017253; Ubiquitously expressed, with low level of expression in liver, heart and skeletal (PubMed:10761712). Also detected in hematopoietic cells (at protein level) (PubMed:21447833). Expressed from early prenatal stages, as early as 7 dpc and increased thereafter. Up-regulated in proliferating hematopoietic cells. Knockout of Sart3 is embryonic lethal. Sequence=AAH36350.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; spliceosomal tri-snRNP complex assembly regulation of alternative mRNA splicing, via spliceosome spliceosomal snRNP assembly mRNA splicing, via spliceosome cell morphogenesis nucleic acid binding RNA binding nucleus nucleoplasm cytoplasm nucleosome assembly RNA processing mRNA processing RNA splicing regulation of gene expression Cajal body nuclear speck U6 snRNA binding U6atac snRNA binding histone binding homeostasis of number of cells ASAP complex hematopoietic stem cell proliferation positive regulation of histone deubiquitination ubiquitin-specific protease binding U6atac snRNP U4/U6 snRNP uc008yym.1 uc008yym.2 uc008yym.3 
ENSMUST00000019143.9 Slc35b4 ENSMUST00000019143.9 solute carrier family 35, member B4, transcript variant 2 (from RefSeq NR_184551.1) ENSMUST00000019143.1 ENSMUST00000019143.2 ENSMUST00000019143.3 ENSMUST00000019143.4 ENSMUST00000019143.5 ENSMUST00000019143.6 ENSMUST00000019143.7 ENSMUST00000019143.8 MNCb-4414 NR_184551 Q3TQU7 Q5U681 Q8CIA5 Q9JJF7 S35B4_MOUSE uc009bgx.1 uc009bgx.2 uc009bgx.3 Antiporter that transports nucleotide sugars across the endoplasmic reticulum (ER) membrane in exchange for another nucleotide sugar. May couple UDP-alpha-D-glucuronate (UDP-GlcA) or UDP-alpha-D- xylose (UDP-Xyl) efflux to UDP-alpha-D-glucuronate (UDP-GlcA) influx into the ER lumen, which in turn stimulates glucuronidation and excretion of endobiotics and xenobiotics. Reaction=UDP-alpha-D-glucuronate(out) + UDP-N-acetyl-alpha-D- glucosamine(in) = UDP-alpha-D-glucuronate(in) + UDP-N-acetyl-alpha-D- glucosamine(out); Xref=Rhea:RHEA:73703, ChEBI:CHEBI:57705, ChEBI:CHEBI:58052; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:73704; Evidence=; Reaction=UDP-alpha-D-glucuronate(out) + UDP-alpha-D-xylose(in) = UDP- alpha-D-glucuronate(in) + UDP-alpha-D-xylose(out); Xref=Rhea:RHEA:74831, ChEBI:CHEBI:57632, ChEBI:CHEBI:58052; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:74832; Evidence=; Endoplasmic reticulum membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8CIA5-1; Sequence=Displayed; Name=2; IsoId=Q8CIA5-2; Sequence=VSP_016203; Belongs to the nucleotide-sugar transporter family. SLC35B subfamily. Golgi membrane UDP-N-acetylglucosamine transmembrane transporter activity UDP-xylose transmembrane transporter activity endoplasmic reticulum Golgi apparatus regulation of gluconeogenesis carbohydrate transport UDP-xylose transport membrane integral component of membrane transmembrane transporter activity integral component of Golgi membrane integral component of endoplasmic reticulum membrane transmembrane transport UDP-N-acetylglucosamine transmembrane transport uc009bgx.1 uc009bgx.2 uc009bgx.3 
ENSMUST00000019183.14 Dalrd3 ENSMUST00000019183.14 DALR anticodon binding domain containing 3 (from RefSeq NM_026378.3) DALD3_MOUSE ENSMUST00000019183.1 ENSMUST00000019183.10 ENSMUST00000019183.11 ENSMUST00000019183.12 ENSMUST00000019183.13 ENSMUST00000019183.2 ENSMUST00000019183.3 ENSMUST00000019183.4 ENSMUST00000019183.5 ENSMUST00000019183.6 ENSMUST00000019183.7 ENSMUST00000019183.8 ENSMUST00000019183.9 NM_026378 Q6PJN8 Q8C1T1 Q9D1L6 uc009rqi.1 uc009rqi.2 uc009rqi.3 Involved in tRNA methylation. Facilitates the recognition and targeting of tRNA(Arg)(CCU) and tRNA(Arg)(UCU) substrates for N(3)- methylcytidine modification by METTL2. Part of a complex containing tRNA(Arg) and METTL2. Interacts with tRNA(Arg)(CCU) and tRNA(Arg)(UCU). Interacts with METTL2. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6PJN8-1; Sequence=Displayed; Name=2; IsoId=Q6PJN8-2; Sequence=VSP_030747; nucleotide binding aminoacyl-tRNA ligase activity arginine-tRNA ligase activity ATP binding cellular_component tRNA aminoacylation for protein translation arginyl-tRNA aminoacylation biological_process uc009rqi.1 uc009rqi.2 uc009rqi.3 
ENSMUST00000019198.7 Fis1 ENSMUST00000019198.7 fission, mitochondrial 1, transcript variant 1 (from RefSeq NM_025562.3) ENSMUST00000019198.1 ENSMUST00000019198.2 ENSMUST00000019198.3 ENSMUST00000019198.4 ENSMUST00000019198.5 ENSMUST00000019198.6 FIS1_MOUSE NM_025562 Q9CQ92 Ttc11 uc009abf.1 uc009abf.2 uc009abf.3 Involved in the fragmentation of the mitochondrial network and its perinuclear clustering (PubMed:23283981). Plays a minor role in the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface and mitochondrial fission (PubMed:23283981). May not be essential for the assembly of functional fission complexes and the subsequent membrane scission event (By similarity). Also mediates peroxisomal fission (By similarity). May act when the products of fission are directed toward mitochondrial homeostasis, mitophagy, or apoptosis (By similarity). Can induce cytochrome c release from the mitochondrion to the cytosol, ultimately leading to apoptosis (By similarity). Interacts with DNM1L/DLP1 through the TPR region; may form part of a larger protein complex at the endoplasmic reticulum- mitochondrial interface during mitochondrial fission (By similarity). Interacts with MARCHF5 (By similarity). Interacts with MIEF1 (By similarity). Interacts with PEX11A, PEX11B and PEX11G (By similarity). Mitochondrion outer membrane ; Single-pass membrane protein Peroxisome membrane ; Single-pass membrane protein The C-terminus is required for mitochondrial or peroxisomal localization, while the N-terminus is necessary for mitochondrial or peroxisomal fission, localization and regulation of the interaction with DNM1L. Ubiquitinated by MARCHF5. Belongs to the FIS1 family. mitochondrial fission mitophagy release of cytochrome c from mitochondria mitochondrion mitochondrial outer membrane peroxisome peroxisomal membrane integral component of peroxisomal membrane endoplasmic reticulum protein targeting to mitochondrion apoptotic process positive regulation of cytosolic calcium ion concentration mitochondrial fusion regulation of mitochondrion organization membrane integral component of membrane peroxisome fission integral component of mitochondrial outer membrane negative regulation of endoplasmic reticulum calcium ion concentration macromolecular complex calcium-mediated signaling using intracellular calcium source positive regulation of cysteine-type endopeptidase activity involved in apoptotic process positive regulation of neuron apoptotic process mitochondrial fragmentation involved in apoptotic process macromolecular complex binding protein homooligomerization positive regulation of mitochondrial calcium ion concentration mitochondrion morphogenesis positive regulation of mitochondrial fission positive regulation of protein targeting to membrane cellular response to peptide cellular response to thapsigargin positive regulation of intrinsic apoptotic signaling pathway uc009abf.1 uc009abf.2 uc009abf.3 
ENSMUST00000019199.14 Plod1 ENSMUST00000019199.14 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (from RefSeq NM_011122.3) ENSMUST00000019199.1 ENSMUST00000019199.10 ENSMUST00000019199.11 ENSMUST00000019199.12 ENSMUST00000019199.13 ENSMUST00000019199.2 ENSMUST00000019199.3 ENSMUST00000019199.4 ENSMUST00000019199.5 ENSMUST00000019199.6 ENSMUST00000019199.7 ENSMUST00000019199.8 ENSMUST00000019199.9 NM_011122 PLOD1_MOUSE Plod Q9R0E2 uc008vtk.1 uc008vtk.2 uc008vtk.3 uc008vtk.4 Part of a complex composed of PLOD1, P3H3 and P3H4 that catalyzes hydroxylation of lysine residues in collagen alpha chains and is required for normal assembly and cross-linkling of collagen fibrils (PubMed:27119146). Forms hydroxylysine residues in -Xaa-Lys- Gly- sequences in collagens (By similarity). These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (PubMed:27119146). Reaction=2-oxoglutarate + L-lysyl-[collagen] + O2 = (5R)-5-hydroxy-L- lysyl-[collagen] + CO2 + succinate; Xref=Rhea:RHEA:16569, Rhea:RHEA- COMP:12751, Rhea:RHEA-COMP:12752, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:29969, ChEBI:CHEBI:30031, ChEBI:CHEBI:133442; EC=1.14.11.4; Evidence=; Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; Name=L-ascorbate; Xref=ChEBI:CHEBI:38290; Evidence=; Homodimer (By similarity). Identified in a complex with P3H3 and P3H4 (PubMed:27119146). Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side. Highly expressed in the liver, heart, lung, skeletal muscle and kidney. response to hypoxia iron ion binding protein binding endoplasmic reticulum ferrous iron binding procollagen-lysine 5-dioxygenase activity epidermis development membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen peptidyl-lysine hydroxylation collagen fibril organization rough endoplasmic reticulum membrane L-ascorbic acid binding collagen metabolic process peptide binding metal ion binding hydroxylysine biosynthetic process dioxygenase activity oxidation-reduction process catalytic complex uc008vtk.1 uc008vtk.2 uc008vtk.3 uc008vtk.4 
ENSMUST00000019220.16 Strn4 ENSMUST00000019220.16 striatin, calmodulin binding protein 4, transcript variant 1 (from RefSeq NM_133789.3) E9QKX6 ENSMUST00000019220.1 ENSMUST00000019220.10 ENSMUST00000019220.11 ENSMUST00000019220.12 ENSMUST00000019220.13 ENSMUST00000019220.14 ENSMUST00000019220.15 ENSMUST00000019220.2 ENSMUST00000019220.3 ENSMUST00000019220.4 ENSMUST00000019220.5 ENSMUST00000019220.6 ENSMUST00000019220.7 ENSMUST00000019220.8 ENSMUST00000019220.9 NM_133789 P58404 Q68EF5 STRN4_MOUSE Zin uc009fif.1 uc009fif.2 uc009fif.3 Binds calmodulin in a calcium dependent manner. May function as scaffolding or signaling protein. Interacts with CTTNBP2; this interaction may regulate dendritic spine distribution of STRN4. Activation of glutamate receptors weakens the interaction with CTTNBP2 (By similarity). Interacts with CTTNBP2NL (By similarity). Cytoplasm. Membrane; Peripheral membrane protein. Cell projection, dendritic spine Note=CTTNBP2-binding may regulate dendritic spine distribution. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P58404-1; Sequence=Displayed; Name=2; IsoId=P58404-2; Sequence=VSP_013815; Mainly expressed in brain but is also expressed at low levels in the kidney. The name 'Zinedin' probably originates from the name of the famous soccer player from Marseille (Zinedine Zidane). Belongs to the WD repeat striatin family. calmodulin binding cytoplasm biological_process membrane protein domain specific binding dendrite macromolecular complex cell projection dendritic spine macromolecular complex binding protein phosphatase 2A binding armadillo repeat domain binding FAR/SIN/STRIPAK complex uc009fif.1 uc009fif.2 uc009fif.3 
ENSMUST00000019224.9 Mfsd3 ENSMUST00000019224.9 major facilitator superfamily domain containing 3 (from RefSeq NM_027122.3) A0A0R4J004 A0A0R4J004_MOUSE ENSMUST00000019224.1 ENSMUST00000019224.2 ENSMUST00000019224.3 ENSMUST00000019224.4 ENSMUST00000019224.5 ENSMUST00000019224.6 ENSMUST00000019224.7 ENSMUST00000019224.8 Mfsd3 NM_027122 uc007wlt.1 uc007wlt.2 uc007wlt.3 Membrane ; Multi- pass membrane protein integral component of plasma membrane membrane integral component of membrane transmembrane transport uc007wlt.1 uc007wlt.2 uc007wlt.3 
ENSMUST00000019226.14 Slc25a22 ENSMUST00000019226.14 solute carrier family 25 (mitochondrial carrier, glutamate), member 22, transcript variant 1 (from RefSeq NM_026646.3) ENSMUST00000019226.1 ENSMUST00000019226.10 ENSMUST00000019226.11 ENSMUST00000019226.12 ENSMUST00000019226.13 ENSMUST00000019226.2 ENSMUST00000019226.3 ENSMUST00000019226.4 ENSMUST00000019226.5 ENSMUST00000019226.6 ENSMUST00000019226.7 ENSMUST00000019226.8 ENSMUST00000019226.9 GHC1_MOUSE Gc1 NM_026646 Q3TRY1 Q9D6M3 uc009kla.1 uc009kla.2 uc009kla.3 uc009kla.4 Mitochondrial glutamate/H(+) symporter. Responsible for the transport of glutamate from the cytosol into the mitochondrial matrix with the concomitant import of a proton (By similarity). Plays a role in the control of glucose-stimulated insulin secretion (By similarity). Reaction=H(+)(in) + L-glutamate(in) = H(+)(out) + L-glutamate(out); Xref=Rhea:RHEA:70955, ChEBI:CHEBI:15378, ChEBI:CHEBI:29985; Evidence=; Mitochondrion inner membrane ; Multi-pass membrane protein Belongs to the mitochondrial carrier (TC 2.A.29) family. L-glutamate transmembrane transporter activity mitochondrion mitochondrial inner membrane L-aspartate transmembrane transporter activity symporter activity aspartate transport L-glutamate transport membrane integral component of membrane transmembrane transporter activity malate-aspartate shuttle transmembrane transport L-aspartate transport uc009kla.1 uc009kla.2 uc009kla.3 uc009kla.4 
ENSMUST00000019229.15 Med8 ENSMUST00000019229.15 mediator complex subunit 8, transcript variant 1 (from RefSeq NM_020000.3) ENSMUST00000019229.1 ENSMUST00000019229.10 ENSMUST00000019229.11 ENSMUST00000019229.12 ENSMUST00000019229.13 ENSMUST00000019229.14 ENSMUST00000019229.2 ENSMUST00000019229.3 ENSMUST00000019229.4 ENSMUST00000019229.5 ENSMUST00000019229.6 ENSMUST00000019229.7 ENSMUST00000019229.8 ENSMUST00000019229.9 MED8_MOUSE MNCb-2386 NM_020000 Q3UGB4 Q99LM4 Q9D7W5 Q9JJ84 uc008ujw.1 uc008ujw.2 uc008ujw.3 uc008ujw.4 Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors. May play a role as a target recruitment subunit in E3 ubiquitin-protein ligase complexes and thus in ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). Protein modification; protein ubiquitination. Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. May be part of a multisubunit E3 ubiquitin-protein ligase complex with the Elongin BC complex (ELOB and ELOC), CUL2 and RBX1 (By similarity). Q9D7W5; Q9R0X0: Med20; NbExp=2; IntAct=EBI-7990252, EBI-398698; Q9D7W5; Q9CQI9: Med30; NbExp=2; IntAct=EBI-7990252, EBI-309220; Q9D7W5; Q9NVC6: MED17; Xeno; NbExp=2; IntAct=EBI-7990252, EBI-394562; Q9D7W5; Q15528: MED22; Xeno; NbExp=2; IntAct=EBI-7990252, EBI-394687; Q9D7W5; Q6P2C8: MED27; Xeno; NbExp=2; IntAct=EBI-7990252, EBI-394603; Q9D7W5; Q9H204: MED28; Xeno; NbExp=2; IntAct=EBI-7990252, EBI-514199; Q9D7W5; Q9NX70: MED29; Xeno; NbExp=2; IntAct=EBI-7990252, EBI-394656; Q9D7W5; O75586: MED6; Xeno; NbExp=2; IntAct=EBI-7990252, EBI-394624; Nucleus Belongs to the Mediator complex subunit 8 family. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription cofactor activity protein binding nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter protein ubiquitination mediator complex core mediator complex uc008ujw.1 uc008ujw.2 uc008ujw.3 uc008ujw.4 
ENSMUST00000019231.12 Atp6ap1 ENSMUST00000019231.12 ATPase, H+ transporting, lysosomal accessory protein 1, transcript variant 1 (from RefSeq NM_018794.5) Atp6ip1 Atp6s1 ENSMUST00000019231.1 ENSMUST00000019231.10 ENSMUST00000019231.11 ENSMUST00000019231.2 ENSMUST00000019231.3 ENSMUST00000019231.4 ENSMUST00000019231.5 ENSMUST00000019231.6 ENSMUST00000019231.7 ENSMUST00000019231.8 ENSMUST00000019231.9 NM_018794 Q9R1Q9 VAS1_MOUSE uc009tol.1 uc009tol.2 uc009tol.3 Accessory subunit of the proton-transporting vacuolar (V)- ATPase protein pump, which is required for luminal acidification of secretory vesicles (PubMed:18713856). Guides the V-type ATPase into specialized subcellular compartments, such as neuroendocrine regulated secretory vesicles or the ruffled border of the osteoclast, thereby regulating its activity. Involved in membrane trafficking and Ca(2+)- dependent membrane fusion. May play a role in the assembly of the V- type ATPase complex. In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (By similarity). In islets of Langerhans cells, may regulate the acidification of dense-core secretory granules (PubMed:18713856). Accessory component of the multisubunit proton-transporting vacuolar (V)-ATPase protein pump. Interacts (via N-terminus) with ATP6AP2 (via N-terminus). Interacts with RNASEK (By similarity). Interacts with TMEM106B (via C-terminus) (By similarity). Endoplasmic reticulum membrane ; Single-pass type I membrane protein Endoplasmic reticulum-Golgi intermediate compartment membrane Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Single-pass type I membrane protein Cytoplasmic vesicle, clathrin-coated vesicle membrane ; Single-pass type I membrane protein Note=Not detected in trans-Golgi network. Expressed in brain cortex (at protein level) (PubMed:27231034). Highly expressed in islets of Langerhans (PubMed:18713856). Expressed in pancreatic acini, pituitary gland, adrenal gland, lung, brain and bone marrow (PubMed:18713856). N-glycosylated. Belongs to the vacuolar ATPase subunit S1 family. nucleotide binding ATP binding endoplasmic reticulum endoplasmic reticulum membrane ion transport cellular iron ion homeostasis cell death membrane integral component of membrane Rab GTPase binding regulation of cellular pH endoplasmic reticulum-Golgi intermediate compartment membrane proton-transporting V-type ATPase, V1 domain plasma membrane proton-transporting V-type ATPase complex cellular response to increased oxygen levels positive regulation of osteoblast differentiation positive regulation of bone resorption pH reduction positive regulation of exocytosis proton-transporting ATP synthase activity, rotational mechanism proton-transporting ATPase activity, rotational mechanism establishment of organelle localization positive regulation of ERK1 and ERK2 cascade hydrogen ion transmembrane transport positive regulation of osteoclast development proton-transporting V-type ATPase complex assembly uc009tol.1 uc009tol.2 uc009tol.3 
ENSMUST00000019266.6 Ccl9 ENSMUST00000019266.6 C-C motif chemokine ligand 9 (from RefSeq NM_011338.2) Ccl9 ENSMUST00000019266.1 ENSMUST00000019266.2 ENSMUST00000019266.3 ENSMUST00000019266.4 ENSMUST00000019266.5 NM_011338 Q3U9T8 Q3U9T8_MOUSE uc007kpj.1 uc007kpj.2 uc007kpj.3 Secreted Belongs to the intercrine beta (chemokine CC) family. cytokine activity extracellular region extracellular space chemotaxis immune response signal transduction chemokine activity cell chemotaxis uc007kpj.1 uc007kpj.2 uc007kpj.3 
ENSMUST00000019268.11 Scrn1 ENSMUST00000019268.11 secernin 1, transcript variant 1 (from RefSeq NM_027268.3) ENSMUST00000019268.1 ENSMUST00000019268.10 ENSMUST00000019268.2 ENSMUST00000019268.3 ENSMUST00000019268.4 ENSMUST00000019268.5 ENSMUST00000019268.6 ENSMUST00000019268.7 ENSMUST00000019268.8 ENSMUST00000019268.9 Kiaa0193 NM_027268 Q3UKR2 Q8CCL3 Q9CZC8 SCRN1_MOUSE uc009bzw.1 uc009bzw.2 uc009bzw.3 Regulates exocytosis in mast cells. Increases both the extent of secretion and the sensitivity of mast cells to stimulation with calcium (By similarity). Cytoplasm 'Secern' is an archaic English term meaning 'secrete'. Belongs to the peptidase C69 family. Secernin subfamily. Sequence=BAC97894.1; Type=Erroneous initiation; Evidence=; molecular_function cellular_component nucleus cytoplasm proteolysis exocytosis dipeptidase activity nuclear membrane uc009bzw.1 uc009bzw.2 uc009bzw.3 
ENSMUST00000019276.12 BC005537 ENSMUST00000019276.12 cDNA sequence BC005537 (from RefSeq NM_024473.3) CF062_MOUSE ENSMUST00000019276.1 ENSMUST00000019276.10 ENSMUST00000019276.11 ENSMUST00000019276.2 ENSMUST00000019276.3 ENSMUST00000019276.4 ENSMUST00000019276.5 ENSMUST00000019276.6 ENSMUST00000019276.7 ENSMUST00000019276.8 ENSMUST00000019276.9 NM_024473 Q99LU8 uc007pwi.1 uc007pwi.2 uc007pwi.3 molecular_function biological_process uc007pwi.1 uc007pwi.2 uc007pwi.3 
ENSMUST00000019290.3 Cacng2 ENSMUST00000019290.3 calcium channel, voltage-dependent, gamma subunit 2 (from RefSeq NM_007583.2) Cacng2 ENSMUST00000019290.1 ENSMUST00000019290.2 NM_007583 Q3ZB20 Q3ZB20_MOUSE uc007wop.1 uc007wop.2 uc007wop.3 uc007wop.4 Regulates the trafficking and gating properties of AMPA- selective glutamate receptors (AMPARs). Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization. Does not show subunit-specific AMPA receptor regulation and regulates all AMPAR subunits. Thought to stabilize the calcium channel in an inactivated (closed) state. Membrane ulti-pass membrane protein Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. voltage-gated ion channel activity voltage-gated calcium channel activity calcium channel activity cytosol plasma membrane voltage-gated calcium channel complex protein targeting to membrane ion transport calcium ion transport cell surface postsynaptic density membrane integral component of membrane AMPA glutamate receptor complex regulation of ion transmembrane transport ionotropic glutamate receptor binding cerebellar mossy fiber response to calcium ion eye blink reflex calcium ion transmembrane transport postsynaptic density membrane positive regulation of protein localization to basolateral plasma membrane regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity uc007wop.1 uc007wop.2 uc007wop.3 uc007wop.4 
ENSMUST00000019291.7 Psg28 ENSMUST00000019291.7 pregnancy-specific beta-1-glycoprotein 28 (from RefSeq NM_054063.4) ENSMUST00000019291.1 ENSMUST00000019291.2 ENSMUST00000019291.3 ENSMUST00000019291.4 ENSMUST00000019291.5 ENSMUST00000019291.6 NM_054063 Psg28 Q4KL66 Q4KL66_MOUSE uc009fjk.1 uc009fjk.2 uc009fjk.3 uc009fjk.4 molecular_function cellular_component female pregnancy biological_process uc009fjk.1 uc009fjk.2 uc009fjk.3 uc009fjk.4 
ENSMUST00000019302.10 Tmem160 ENSMUST00000019302.10 transmembrane protein 160, transcript variant 1 (from RefSeq NM_026938.2) ENSMUST00000019302.1 ENSMUST00000019302.2 ENSMUST00000019302.3 ENSMUST00000019302.4 ENSMUST00000019302.5 ENSMUST00000019302.6 ENSMUST00000019302.7 ENSMUST00000019302.8 ENSMUST00000019302.9 NM_026938 Q3TKH9 Q9D938 TM160_MOUSE Tmem160 uc009fhu.1 uc009fhu.2 Mitochondrion inner membrane ; Multi-pass membrane protein Expressed in peripheral sensory neurons of dorsal root ganglia (DRG). Homozygous knockout mice for Tmem160 are healthy and fertile and display normal motor function regarding coordination and locomotion as well as similar somatosensory thresholds for mechanical (tactile) and heat stimulation as wild-type littermates (PubMed:34936870). Homozygous knockout male mice show a delay establishment of tactile hypersensitivity and alterations in selfgrooming after nerve injury (PubMed:34936870). Conditional knockout mice lacking Tmem160 in sensory neurons of dorsal root ganglia (DRG) are healthy and fertile (PubMed:34936870). Belongs to the TMEM160 family. molecular_function mitochondrion biological_process membrane integral component of membrane uc009fhu.1 uc009fhu.2 
ENSMUST00000019323.11 Mdh2 ENSMUST00000019323.11 malate dehydrogenase 2, NAD (mitochondrial) (from RefSeq NM_008617.2) ENSMUST00000019323.1 ENSMUST00000019323.10 ENSMUST00000019323.2 ENSMUST00000019323.3 ENSMUST00000019323.4 ENSMUST00000019323.5 ENSMUST00000019323.6 ENSMUST00000019323.7 ENSMUST00000019323.8 ENSMUST00000019323.9 MDHM_MOUSE Mor1 NM_008617 P08249 Q0QF44 Q8CF79 Q8R1P0 uc008zyz.1 uc008zyz.2 uc008zyz.3 Reaction=(S)-malate + NAD(+) = H(+) + NADH + oxaloacetate; Xref=Rhea:RHEA:21432, ChEBI:CHEBI:15378, ChEBI:CHEBI:15589, ChEBI:CHEBI:16452, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.37; Evidence=; Enzyme activity is enhanced by acetylation. Homodimer. Mitochondrion matrix Acetylation is enhanced after treatment either with trichostin A (TCA) or with nicotinamide (NAM) with the appearance of tri- and tetraacetylations. Glucose also increases acetylation (By similarity). Acetylation of Lys-239 and Lys-314 is observed in liver mitochondria from fasted mice but not from fed mice. Belongs to the LDH/MDH superfamily. MDH type 1 family. Sequence=BAC24986.1; Type=Frameshift; Evidence=; catalytic activity cytoplasm mitochondrion mitochondrial inner membrane mitochondrial matrix carbohydrate metabolic process tricarboxylic acid cycle oxaloacetate metabolic process malate metabolic process internal protein amino acid acetylation NADH metabolic process aerobic respiration membrane oxidoreductase activity malate dehydrogenase activity oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor carboxylic acid metabolic process L-malate dehydrogenase activity protein homodimerization activity myelin sheath protein self-association malate dehydrogenase (NADP+) activity oxidation-reduction process uc008zyz.1 uc008zyz.2 uc008zyz.3 
ENSMUST00000019333.10 Rnf145 ENSMUST00000019333.10 ring finger protein 145, transcript variant 1 (from RefSeq NM_028862.4) ENSMUST00000019333.1 ENSMUST00000019333.2 ENSMUST00000019333.3 ENSMUST00000019333.4 ENSMUST00000019333.5 ENSMUST00000019333.6 ENSMUST00000019333.7 ENSMUST00000019333.8 ENSMUST00000019333.9 NM_028862 Q5SWK7 Q8BXX5 Q9CXG1 RN145_MOUSE Rnf145 uc007inh.1 uc007inh.2 uc007inh.3 E3 ubiquitin ligase that catalyzes the direct transfer of ubiquitin from E2 ubiquitin-conjugating enzyme to a specific substrate. In response to bacterial infection, negatively regulates the phagocyte oxidative burst by controlling the turnover of the NADPH oxidase complex subunits. Promotes monoubiquitination of CYBA and 'Lys-48'- linked polyubiquitination and degradation of CYBB NADPH oxidase catalytic subunits, both essential for the generation of antimicrobial reactive oxygen species (PubMed:26194095). Involved in the maintenance of cholesterol homeostasis. In response to high sterol concentrations ubiquitinates HMGCR, a rate-limiting enzyme in cholesterol biosynthesis, and targets it for degradation. The interaction with INSIG1 is required for this function (PubMed:29374057). In addition, triggers ubiquitination of SCAP, likely inhibiting its transport to the Golgi apparatus and the subsequent processing/maturation of SREBPF2, ultimately down-regulating cholesterol biosynthesis (PubMed:29068315). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence= Interacts (via YLYF motif) with INSIG1 and INSIG2. Endoplasmic reticulum membrane ulti-pass membrane protein By high-cholesterol diet. Knockout mice generated by CRISPR-Cas9-mediated gene editing are born at the expected Mendelian rate. Compared to wild- type littermates, mutant mice show slightly reduced body weight and increased serum cholesterol levels. endoplasmic reticulum endoplasmic reticulum membrane zinc ion binding endomembrane system membrane integral component of membrane protein ubiquitination transferase activity metal ion binding ubiquitin protein ligase activity uc007inh.1 uc007inh.2 uc007inh.3 
ENSMUST00000019354.11 Atp6v1e1 ENSMUST00000019354.11 ATPase, H+ transporting, lysosomal V1 subunit E1 (from RefSeq NM_007510.3) Atp6e Atp6e2 ENSMUST00000019354.1 ENSMUST00000019354.10 ENSMUST00000019354.2 ENSMUST00000019354.3 ENSMUST00000019354.4 ENSMUST00000019354.5 ENSMUST00000019354.6 ENSMUST00000019354.7 ENSMUST00000019354.8 ENSMUST00000019354.9 NM_007510 P50518 Q3UK59 Q8K5D6 Q99LD0 VATE1_MOUSE uc009dnr.1 uc009dnr.2 uc009dnr.3 Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex (By similarity). The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H (By similarity). The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c'', rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR (By similarity). Interacts with RABL2/RABL2A; binds preferentially to GTP- bound RABL2 (PubMed:23055941). Interacts with ALDOC (By similarity). Interacts with RAB11B (By similarity). Apical cell membrane ; Peripheral membrane protein Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Peripheral membrane protein Cytoplasmic vesicle, clathrin-coated vesicle membrane ; Peripheral membrane protein Expressed within the midpiece of sperm tail (at protein level) (PubMed:11872743, PubMed:23055941). Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level) (PubMed:29993276). Belongs to the V-ATPase E subunit family. protein binding cytoplasm mitochondrion endosome cytosol microvillus ion transport hydrogen-exporting ATPase activity, phosphorylative mechanism apical plasma membrane hydrolase activity proton-transporting two-sector ATPase complex, catalytic domain proton-transporting ATPase activity, rotational mechanism ATPase binding hydrogen ion transmembrane transport uc009dnr.1 uc009dnr.2 uc009dnr.3 
ENSMUST00000019378.8 Mlh3 ENSMUST00000019378.8 mutL homolog 3, transcript variant 1 (from RefSeq NM_175337.2) ENSMUST00000019378.1 ENSMUST00000019378.2 ENSMUST00000019378.3 ENSMUST00000019378.4 ENSMUST00000019378.5 ENSMUST00000019378.6 ENSMUST00000019378.7 Mlh3 NM_175337 Q68FG1 Q68FG1_MOUSE uc007ogt.1 uc007ogt.2 uc007ogt.3 uc007ogt.4 Belongs to the DNA mismatch repair MutL/HexB family. condensed chromosome condensed nuclear chromosome synaptonemal complex male germ cell nucleus chromatin binding ATP binding nucleus nucleoplasm chiasma mismatch repair cellular response to DNA damage stimulus synaptonemal complex assembly male meiosis female meiosis I protein localization ATPase activity centromeric DNA binding mismatched DNA binding mismatch repair complex uc007ogt.1 uc007ogt.2 uc007ogt.3 uc007ogt.4 
ENSMUST00000019382.17 Tecr ENSMUST00000019382.17 trans-2,3-enoyl-CoA reductase, transcript variant 1 (from RefSeq NM_134118.5) ENSMUST00000019382.1 ENSMUST00000019382.10 ENSMUST00000019382.11 ENSMUST00000019382.12 ENSMUST00000019382.13 ENSMUST00000019382.14 ENSMUST00000019382.15 ENSMUST00000019382.16 ENSMUST00000019382.2 ENSMUST00000019382.3 ENSMUST00000019382.4 ENSMUST00000019382.5 ENSMUST00000019382.6 ENSMUST00000019382.7 ENSMUST00000019382.8 ENSMUST00000019382.9 Gpsn2 NM_134118 Q9CY27 TECR_MOUSE uc009mkm.1 uc009mkm.2 uc009mkm.3 uc009mkm.4 Involved in both the production of very long-chain fatty acids for sphingolipid synthesis and the degradation of the sphingosine moiety in sphingolipids through the sphingosine 1-phosphate metabolic pathway (By similarity). Catalyzes the last of the four reactions of the long-chain fatty acids elongation cycle (By similarity). This endoplasmic reticulum-bound enzymatic process, allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids/VLCFAs per cycle (By similarity). This enzyme reduces the trans-2,3-enoyl-CoA fatty acid intermediate to an acyl-CoA that can be further elongated by entering a new cycle of elongation (By similarity). Thereby, it participates in the production of VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators (By similarity). Catalyzes the saturation step of the sphingosine 1-phosphate metabolic pathway, the conversion of trans-2-hexadecenoyl-CoA to palmitoyl-CoA (By similarity). Reaction=a very-long-chain 2,3-saturated fatty acyl-CoA + NADP(+) = a very-long-chain (2E)-enoyl-CoA + H(+) + NADPH; Xref=Rhea:RHEA:14473, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:83724, ChEBI:CHEBI:83728; EC=1.3.1.93; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:14475; Evidence=; Reaction=NADP(+) + octadecanoyl-CoA = (2E)-octadecenoyl-CoA + H(+) + NADPH; Xref=Rhea:RHEA:35351, ChEBI:CHEBI:15378, ChEBI:CHEBI:57394, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:71412; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:35353; Evidence=; Reaction=(2E,7Z,10Z,13Z,16Z)-docosapentaenoyl-CoA + H(+) + NADPH = (7Z,10Z,13Z,16Z)-docosatetraenoyl-CoA + NADP(+); Xref=Rhea:RHEA:39331, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:73856, ChEBI:CHEBI:76416; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39332; Evidence=; Reaction=(2E,7Z,10Z,13Z,16Z,19Z)-docosahexaenoyl-CoA + H(+) + NADPH = (7Z,10Z,13Z,16Z,19Z)-docosapentaenoyl-CoA + NADP(+); Xref=Rhea:RHEA:39467, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:73870, ChEBI:CHEBI:76461; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39468; Evidence=; Reaction=(2E,8Z,11Z,14Z)-eicosatetraenoyl-CoA + H(+) + NADPH = (8Z,11Z,14Z)-eicosatrienoyl-CoA + NADP(+); Xref=Rhea:RHEA:39319, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:74264, ChEBI:CHEBI:76412; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39320; Evidence=; Reaction=(2E)-hexadecenoyl-CoA + H(+) + NADPH = hexadecanoyl-CoA + NADP(+); Xref=Rhea:RHEA:36143, ChEBI:CHEBI:15378, ChEBI:CHEBI:57379, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:61526; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36144; Evidence=; Lipid metabolism; fatty acid biosynthesis. Lipid metabolism; sphingolipid metabolism. Interacts with ELOVL1 and LASS2. Endoplasmic reticulum membrane ; Multi-pass membrane protein Glycosylated. Belongs to the steroid 5-alpha reductase family. endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process sphingolipid metabolic process steroid biosynthetic process membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on the CH-CH group of donors integral component of endoplasmic reticulum membrane fatty acid elongation very long-chain fatty acid biosynthetic process oxidation-reduction process uc009mkm.1 uc009mkm.2 uc009mkm.3 uc009mkm.4 
ENSMUST00000019386.10 Ripk4 ENSMUST00000019386.10 receptor-interacting serine-threonine kinase 4 (from RefSeq NM_023663.7) Ankrd3 ENSMUST00000019386.1 ENSMUST00000019386.2 ENSMUST00000019386.3 ENSMUST00000019386.4 ENSMUST00000019386.5 ENSMUST00000019386.6 ENSMUST00000019386.7 ENSMUST00000019386.8 ENSMUST00000019386.9 NM_023663 Pkk Q3UM04 Q9ERK0 RIPK4_MOUSE uc008adn.1 uc008adn.2 uc008adn.3 Involved in stratified epithelial development (By similarity). It is a direct transcriptional target of TP63. Plays a role in NF-kappa-B activation. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Interacts with PRKCB. Interacts with TRAF1, TRAF2, TRAF3 and TRAF5. Interacts with BIRC2/c-IAP1, BIRC3/c-IAP2 and XIAP/BIRC4. Q9ERK0; Q6Q0C0: TRAF7; Xeno; NbExp=2; IntAct=EBI-6116422, EBI-307556; Cytoplasm. Membrane; Peripheral membrane protein. Note=At steady state, a minor portion of this protein is membrane- associated. The major portion is cytoplasmic. Ubiquitously expressed, with an abundant expression in the thymus, bone marrow, pro-B, pre-B and immature B cells and a weak expression in the spleen. Expressed at 10.5 dpc at diverse locations including the embryonic forebrain, otic vesicle, branchial arches, primitive gut, and genitourinary system. Transient expression in the ventral neural tube at 12.5 dpc. By 14.5 dpc, strong expression throughout the gastrointestinal tract was observed in the luminal tissues of the esophagus, stomach, duodenum, and intestines, as well as transient expression in the skin. Not expressed in kidney. May be phosphorylated by MAP3K2 and MAP3K3. Proteolytically cleaved by during Fas-induced apoptosis. Cleavage at Asp-342 and Asp-380. Polyubiquitinated with 'Lys-48' and 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation of NF-kappa-B. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. nucleotide binding morphogenesis of an epithelium protein kinase activity protein serine/threonine kinase activity protein binding ATP binding cytoplasm protein phosphorylation membrane kinase activity phosphorylation transferase activity positive regulation of NF-kappaB transcription factor activity uc008adn.1 uc008adn.2 uc008adn.3 
ENSMUST00000019405.4 Map1s ENSMUST00000019405.4 microtubule-associated protein 1S (from RefSeq NM_173013.3) Bpy2ip1 E9QKR8 ENSMUST00000019405.1 ENSMUST00000019405.2 ENSMUST00000019405.3 MAP1S_MOUSE Map8 Mtap1s NM_173013 Q3TSD6 Q7TMW8 Q8C052 uc009mcd.1 uc009mcd.2 uc009mcd.3 uc009mcd.4 Microtubule-associated protein that mediates aggregation of mitochondria resulting in cell death and genomic destruction (MAGD). Plays a role in anchoring the microtubule organizing center to the centrosomes. Binds to DNA. Plays a role in apoptosis (By similarity). Involved in the formation of microtubule bundles. Heterodimer of a heavy and a light chain. Interacts with microtubules and actin. Both MAP1S heavy and light chains interact with microtubules. MAP1S light chain interacts with actin. Interacts with ESR1, LRPPRC, RASSF1, microtubules and VCY2. Interacts with WDR47 (via N-terminus of light chain) (By similarity). Interacts (via C-terminus) with GAN (via Kelch domains). Nucleus Cytoplasm, cytosol Cytoplasm, cytoskeleton Cytoplasm, cytoskeleton, spindle Note=Detected in perinuclear punctate network corresponding to mitochondrial aggregates and in the nucleus in cells exhibiting apoptosis. Associated specifically with microtubules stabilized by paclitaxel and colocalizes with RASSF1. In interphase cells, shows a diffuse cytoplasmic staining with partial localization to the microtubules. During the different stages of mitosis detected at the spindle microtubules. Detected in filopodia-like protrusions and synapses (By similarity). Expressed in ventral and dorsal horns of the spinal cord, hippocampus, cerebral cortex, molecular, Purkinje and granular cell layers of the cerebellum and in dorsal root ganglia of the PNS (at protein level). Expressed in brain, testis, heart, lung, kidney and liver. Expressed in embryo at 10 dpc onwards (at protein level). Its C-terminal part of the heavy chain interacts with ESR1 (By similarity). The N-terminus of the heavy chain associates with the C- terminus of the light chain to form the heterodimer complex. Belongs to the MAP1 family. Sequence=AAH52828.1; Type=Erroneous initiation; Evidence=; Sequence=AAH52828.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. At the N-terminus.; Evidence=; microtubule cytoskeleton organization microtubule bundle formation DNA binding actin binding nucleus nucleolus cytoplasm spindle cytosol cytoskeleton microtubule microtubule associated complex apoptotic process nervous system development axonogenesis brain development microtubule binding regulation of chromatin disassembly microtubule cytoskeleton tubulin binding dendrite development cell junction dendrite regulation of microtubule depolymerization identical protein binding cell projection neuronal cell body synapse perinuclear region of cytoplasm beta-tubulin binding neuron projection morphogenesis actin filament binding uc009mcd.1 uc009mcd.2 uc009mcd.3 uc009mcd.4 
ENSMUST00000019422.6 Dpep1 ENSMUST00000019422.6 dipeptidase 1, transcript variant 1 (from RefSeq NM_007876.3) DPEP1_MOUSE ENSMUST00000019422.1 ENSMUST00000019422.2 ENSMUST00000019422.3 ENSMUST00000019422.4 ENSMUST00000019422.5 G5E824 Mbd1 NM_007876 P31428 Rdp uc009nui.1 uc009nui.2 uc009nui.3 uc009nui.4 uc009nui.5 Hydrolyzes a wide range of dipeptides including the conversion of leukotriene D4 to leukotriene E4 (PubMed:12738806, PubMed:31442408, PubMed:9560193). Hydrolyzes cystinyl-bis-glycine (cys- bis-gly) formed during glutathione degradation (PubMed:12738806, PubMed:9560193). Possesses also beta lactamase activity and hydrolytically inactivates beta-lactam antibiotics (PubMed:12738806). Independently of its dipeptidase activity, acts as an adhesion receptor for neutrophil recruitment from bloodstream into inflamed lungs and liver. Reaction=an L-aminoacyl-L-amino acid + H2O = 2 an L-alpha-amino acid; Xref=Rhea:RHEA:48940, ChEBI:CHEBI:15377, ChEBI:CHEBI:59869, ChEBI:CHEBI:77460; EC=3.4.13.19; Evidence= Reaction=H2O + leukotriene D4 = glycine + leukotriene E4; Xref=Rhea:RHEA:48616, ChEBI:CHEBI:15377, ChEBI:CHEBI:57305, ChEBI:CHEBI:57462, ChEBI:CHEBI:63166; Evidence=; Reaction=2 H2O + L-cystine-bis-glycine = 2 glycine + L-cystine; Xref=Rhea:RHEA:60520, ChEBI:CHEBI:15377, ChEBI:CHEBI:35491, ChEBI:CHEBI:57305, ChEBI:CHEBI:143812; Evidence=; Reaction=a beta-lactam + H2O = a substituted beta-amino acid; Xref=Rhea:RHEA:20401, ChEBI:CHEBI:15377, ChEBI:CHEBI:35627, ChEBI:CHEBI:140347; EC=3.5.2.6; Evidence=; Reaction=glycyldehydrophenylalanine + H2O = 2,3-didehydrophenylalanine + glycine; Xref=Rhea:RHEA:62704, ChEBI:CHEBI:15377, ChEBI:CHEBI:57305, ChEBI:CHEBI:145925, ChEBI:CHEBI:145926; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence= Inhibited by L-penicillamine. Inhibited by cilastatin. Kinetic parameters: KM=10 uM for leukotriene D4 ; KM=0.45 mM for cystinyl-bis-glycine ; KM=111 uM for beta-lactam ; Homodimer; disulfide-linked. Apical cell membrane ; Lipid-anchor, GPI-anchor Cell projection, microvillus membrane ; Lipid-anchor, GPI-anchor Note=Brush border membrane. Expressed in heart, lung, skeletal muscle, kidney, liver, and testis. Not detected in brain and spleen. Deficient mice are phenotypically normal. However deficient mice display a partial loss in the conversion of leukotriene D4 to leukotrience E4 and in the conversion of cys-bis-gly to cysteine and glycine (PubMed:9560193). Deficient mice display reduces mortality in models of sepsis (PubMed:31442408). Belongs to the metallo-dependent hydrolases superfamily. Peptidase M19 family. extracellular space nucleus plasma membrane proteolysis apoptotic process peptidase activity metalloexopeptidase activity metallopeptidase activity dipeptidyl-peptidase activity zinc ion binding membrane apical plasma membrane hydrolase activity dipeptidase activity antibiotic metabolic process cell junction negative regulation of cell migration anchored component of membrane microvillus membrane GPI anchor binding cellular response to drug cell projection cysteine-type endopeptidase inhibitor activity involved in apoptotic process negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process apical part of cell metal ion binding homocysteine metabolic process metallodipeptidase activity cellular response to calcium ion cellular response to nitric oxide modified amino acid binding uc009nui.1 uc009nui.2 uc009nui.3 uc009nui.4 uc009nui.5 
ENSMUST00000019426.5 Dsg4 ENSMUST00000019426.5 desmoglein 4 (from RefSeq NM_181564.3) DSG4_MOUSE ENSMUST00000019426.1 ENSMUST00000019426.2 ENSMUST00000019426.3 ENSMUST00000019426.4 NM_181564 Q7TMD7 uc008een.1 uc008een.2 This gene encodes a member of the cadherin family of proteins that forms an integral transmembrane component of desmosomes, the multiprotein complexes involved in cell adhesion, organization of the cytoskeleton, cell sorting and cell signaling. This gene is expressed in the suprabasal epidermis and hair follicle. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Certain mutations in this gene are responsible for the lanceolate hair phenotype in mice. This gene is located in a cluster of desmosomal cadherin genes on chromosome 18. [provided by RefSeq, Feb 2016]. ##Evidence-Data-START## Transcript exon combination :: AY191584.1, AY227349.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes. Cell membrane ; Single-pass type I membrane protein Cell junction, desmosome Strongly expressed in the skin; during the anagen stage of hair follicles in the matrix, precortex and inner rooth sheath. Expressed in embryo at 7 to 17 dpc. Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain. Note=Defects in Dsg4 are the cause of an autosomal recessive phenotype lanceolate hair (lah). Lah mice pups develop only a few short hairs on the head and neck which form a lance head at the tip and disappear within a few month. They have thickened skin and do not exhibit any growth retardation. hair follicle development calcium ion binding plasma membrane cell-cell junction cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules membrane integral component of membrane cell junction desmosome keratinocyte differentiation BMP signaling pathway metal ion binding cell-cell adhesion uc008een.1 uc008een.2 
ENSMUST00000019439.9 Tmem129 ENSMUST00000019439.9 transmembrane protein 129, transcript variant 1 (from RefSeq NM_026698.3) ENSMUST00000019439.1 ENSMUST00000019439.2 ENSMUST00000019439.3 ENSMUST00000019439.4 ENSMUST00000019439.5 ENSMUST00000019439.6 ENSMUST00000019439.7 ENSMUST00000019439.8 NM_026698 Q3TA74 Q8K304 Q9DCF3 TM129_MOUSE uc008xay.1 uc008xay.2 uc008xay.3 E3 ubiquitin-protein ligase involved in ER-associated protein degradation, preferentially associates with the E2 enzyme UBE2J2. Exploited by viral US11 proteins to mediate HLA class I proteins degradation. Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Protein modification; protein ubiquitination. Integral component of ER-resident dislocation complexes. Endoplasmic reticulum membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8K304-1; Sequence=Displayed; Name=2; IsoId=Q8K304-2; Sequence=VSP_026159; The RING-type zinc finger domain is responsible for E3 ubiquitin ligase activity. Belongs to the TMEM129 family. protein polyubiquitination endoplasmic reticulum endoplasmic reticulum membrane response to unfolded protein membrane integral component of membrane protein ubiquitination transferase activity ER-associated ubiquitin-dependent protein catabolic process retrograde protein transport, ER to cytosol metal ion binding ubiquitin protein ligase activity uc008xay.1 uc008xay.2 uc008xay.3 
ENSMUST00000019441.9 Nop9 ENSMUST00000019441.9 NOP9 nucleolar protein (from RefSeq NM_026403.3) ENSMUST00000019441.1 ENSMUST00000019441.2 ENSMUST00000019441.3 ENSMUST00000019441.4 ENSMUST00000019441.5 ENSMUST00000019441.6 ENSMUST00000019441.7 ENSMUST00000019441.8 NM_026403 NOP9_MOUSE Q3TW87 Q8BKR9 Q8BMC4 Q8BYV4 Q8VEF9 Q9D0C6 Q9D5A8 uc007uao.1 uc007uao.2 uc007uao.3 uc007uao.4 Belongs to the NOP9 family. Sequence=BAB29900.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAC34455.1; Type=Frameshift; Evidence=; Sequence=BAC39042.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; RNA binding cellular_component biological_process uc007uao.1 uc007uao.2 uc007uao.3 uc007uao.4 
ENSMUST00000019443.15 Rnf31 ENSMUST00000019443.15 ring finger protein 31 (from RefSeq NM_194346.3) ENSMUST00000019443.1 ENSMUST00000019443.10 ENSMUST00000019443.11 ENSMUST00000019443.12 ENSMUST00000019443.13 ENSMUST00000019443.14 ENSMUST00000019443.2 ENSMUST00000019443.3 ENSMUST00000019443.4 ENSMUST00000019443.5 ENSMUST00000019443.6 ENSMUST00000019443.7 ENSMUST00000019443.8 ENSMUST00000019443.9 NM_194346 Paul Q924T7 RNF31_MOUSE Rnf31 uc007tzi.1 uc007tzi.2 uc007tzi.3 E3 ubiquitin-protein ligase component of the LUBAC complex which conjugates linear ('Met-1'-linked) polyubiquitin chains to substrates and plays a key role in NF-kappa-B activation and regulation of inflammation (PubMed:28701375). LUBAC conjugates linear polyubiquitin to IKBKG and RIPK1 and is involved in activation of the canonical NF-kappa-B and the JNK signaling pathways (By similarity). Linear ubiquitination mediated by the LUBAC complex interferes with TNF-induced cell death and thereby prevents inflammation (PubMed:28701375). LUBAC is recruited to the TNF-R1 signaling complex (TNF-RSC) following polyubiquitination of TNF-RSC components by BIRC2 and/or BIRC3 and to conjugate linear polyubiquitin to IKBKG and possibly other components contributing to the stability of the complex (By similarity). The LUBAC complex is also involved in innate immunity by conjugating linear polyubiquitin chains at the surface of bacteria invading the cytosol to form the ubiquitin coat surrounding bacteria (By similarity). LUBAC is not able to initiate formation of the bacterial ubiquitin coat, and can only promote formation of linear polyubiquitins on pre-existing ubiquitin (By similarity). Recruited to the surface of bacteria by RNF213, which initiates the bacterial ubiquitin coat (By similarity). The bacterial ubiquitin coat acts as an 'eat-me' signal for xenophagy and promotes NF-kappa-B activation (By similarity). Together with OTULIN, the LUBAC complex regulates the canonical Wnt signaling during angiogenesis (By similarity). RNF31 is required for linear ubiquitination of BCL10, thereby promoting TCR- induced NF-kappa-B activation (By similarity). Binds polyubiquitin of different linkage types (By similarity). Reaction=[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + [acceptor protein]-N(6)-ubiquitinyl-L-lysine.; EC=2.3.2.31; Evidence=; Protein modification; protein ubiquitination. Component of the LUBAC complex (linear ubiquitin chain assembly complex) which consists of SHARPIN, RBCK1 and RNF31 (By similarity). LUBAC has a MW of approximately 600 kDa suggesting a heteromultimeric assembly of its subunits (By similarity). Associates with the TNF-R1 signaling complex (TNF-RSC) in a stimulation-dependent manner (By similarity). Interacts (via the PUB domain) with OTULIN (via the PIM motif); the interaction is direct (PubMed:23708998). Interacts (via the PUB domain) with VCP (via the PIM motif) (By similarity). Interacts (via the PUB domain) with SPATA2 (via the PIM motif); interaction is direct and bridges RNF31 and CYLD (By similarity). Interacts with CYLD; the interaction is indirect and is mediated via SPATA2 (By similarity). Interacts with MUSK (PubMed:14678832). Interacts with CARD11, promoting linear ubiquitination of BCL10 (By similarity). Q924T7; O88522: Ikbkg; NbExp=7; IntAct=EBI-647680, EBI-998011; Q924T7; Q9WUB0: Rbck1; NbExp=10; IntAct=EBI-647680, EBI-6141072; Q924T7; Q91WA6: Sharpin; NbExp=10; IntAct=EBI-647680, EBI-646097; Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q924T7-1; Sequence=Displayed; Name=2; IsoId=Q924T7-2; Sequence=VSP_009649; Widely expressed (at protein level). Not expressed in heart. The PUB domain mediates interaction with the PIM motifs of VCP and RNF31, with a strong preference for RNF31. The RanBP2-type zinc fingers mediate the specific interaction with ubiquitin. The UBA domain mediates association with RBCK1/HOIL1 via interaction with its UBL domain. RING 1 and IBR zinc-fingers catalyze the first step transfer of ubiquitin from the E2 onto RING 2, to transiently form a HECT-like covalent thioester intermediate. The linear ubiquitin chain determining domain (LDD) mediates the final transfer of ubiquitin from RING 2 onto the N-terminus of a target ubiquitin. Autoubiquitinated (PubMed:29950720). Interaction with OTULIN is required to suppress formation of 'Met-1'-linked polyubiquitin chains and prevent subsequent inactivation of the LUBAC complex (PubMed:29950720). Cleaved by caspase during apoptosis. Belongs to the RBR family. protein polyubiquitination ubiquitin-protein transferase activity protein binding cytoplasm cytosol cytoplasmic side of plasma membrane protein ubiquitination transferase activity CD40 signaling pathway ubiquitin protein ligase binding CD40 receptor complex positive regulation of I-kappaB kinase/NF-kappaB signaling ubiquitin binding metal ion binding T cell receptor signaling pathway positive regulation of NF-kappaB transcription factor activity negative regulation of necroptotic process LUBAC complex protein linear polyubiquitination uc007tzi.1 uc007tzi.2 uc007tzi.3 
ENSMUST00000019445.6 Hsd17b1 ENSMUST00000019445.6 hydroxysteroid (17-beta) dehydrogenase 1 (from RefSeq NM_010475.2) ENSMUST00000019445.1 ENSMUST00000019445.2 ENSMUST00000019445.3 ENSMUST00000019445.4 ENSMUST00000019445.5 Hsd17b1 NM_010475 Q790P4 Q790P4_MOUSE uc007lnb.1 uc007lnb.2 uc007lnb.3 Belongs to the short-chain dehydrogenases/reductases (SDR) family. estradiol 17-beta-dehydrogenase activity cytoplasm cytosol estrogen biosynthetic process oxidoreductase activity testosterone dehydrogenase (NAD+) activity oxidation-reduction process bone development testosterone biosynthetic process cellular response to metal ion uc007lnb.1 uc007lnb.2 uc007lnb.3 
ENSMUST00000019447.15 Psmc3ip ENSMUST00000019447.15 proteasome (prosome, macropain) 26S subunit, ATPase 3, interacting protein (from RefSeq NM_008949.3) ENSMUST00000019447.1 ENSMUST00000019447.10 ENSMUST00000019447.11 ENSMUST00000019447.12 ENSMUST00000019447.13 ENSMUST00000019447.14 ENSMUST00000019447.2 ENSMUST00000019447.3 ENSMUST00000019447.4 ENSMUST00000019447.5 ENSMUST00000019447.6 ENSMUST00000019447.7 ENSMUST00000019447.8 ENSMUST00000019447.9 HOP2_MOUSE Hop2 NM_008949 O35047 Q3V035 Tbpip uc007lnh.1 uc007lnh.2 uc007lnh.3 uc007lnh.4 Plays an important role in meiotic recombination. Stimulates DMC1-mediated strand exchange required for pairing homologous chromosomes during meiosis. The complex PSMC3IP/MND1 binds DNA, stimulates the recombinase activity of DMC1 as well as DMC1 D-loop formation from double-strand DNA. This complex stabilizes presynaptic RAD51 and DMC1 filaments formed on single strand DNA to capture double- strand DNA. This complex stimulates both synaptic and presynaptic critical steps in RAD51 and DMC1-promoted homologous pairing. May inhibit HIV-1 viral protein TAT activity and modulate the activity of proteasomes through association with PSMC3. Interacts with the DNA-binding domain of the nuclear receptors NR3C1/GR, ESR2/ER-beta, THRB and RXRA (By similarity). Forms a stable heterodimer with MND1. Interacts with PSMC3/TBP1. Nucleus Highly expressed in testis and more specifically in spermatocytes. Detected in spleen, ovary and thymus. Overexpressed at day 11 in the embryo. Phosphorylated by PKA, PKC and MAPK. Infertility. Males exhibit testicular hypoplasia with lack of spermatozoa. Spermatocytes arrest at the stage of pachytene-like chromosome condensation and spermatogenesis is blocked at prophase of meiosis I. Axial elements are fully developed, but synapsis is limited. While meiotic double-stranded breaks are formed and processed, they fail to be repaired. Belongs to the HOP2 family. DNA binding nucleus nucleoplasm DNA recombination reciprocal meiotic recombination estrogen receptor binding ligand-dependent nuclear receptor transcription coactivator activity glucocorticoid receptor binding protein homodimerization activity positive regulation of transcription from RNA polymerase II promoter thyroid hormone receptor binding androgen receptor binding DBD domain binding meiotic cell cycle uc007lnh.1 uc007lnh.2 uc007lnh.3 uc007lnh.4 
ENSMUST00000019456.5 Grb7 ENSMUST00000019456.5 growth factor receptor bound protein 7 (from RefSeq NM_010346.2) ENSMUST00000019456.1 ENSMUST00000019456.2 ENSMUST00000019456.3 ENSMUST00000019456.4 GRB7_MOUSE NM_010346 Q03160 Q3TH55 uc007lgk.1 uc007lgk.2 Adapter protein that interacts with the cytoplasmic domain of numerous receptor kinases and modulates down-stream signaling. Promotes activation of down-stream protein kinases, including STAT3, AKT1, MAPK1 and/or MAPK3. Promotes activation of HRAS. Plays a role in signal transduction in response to EGF. Plays a role in the regulation of cell proliferation and cell migration (By similarity). Plays a role in the assembly and stability of RNA stress granules. Binds to the 5'UTR of target mRNA molecules and represses translation of target mRNA species, when not phosphorylated. Phosphorylation impairs RNA binding and promotes stress granule disassembly during recovery after cellular stress. Homodimer. Interacts (via SH2 domain) with EGFR, ERBB2, ERBB3 (when phosphorylated), ERBB4 (when phosphorylated), EPHB1, INSR, FGFR1, PDGFRA (tyrosine phosphorylated) and PDGFRB (tyrosine phosphorylated). Interacts with SHC1. Interacts with RND1. Interacts (when tyrosine phosphorylated) with FHL2 and HAX1 (By similarity). Interacts (via SH2 domain) with RET and PTK2/FAK1. Interacts (when not phosphorylated) with ELAVL1. In stressed cells, but not in normal cells, part of a complex that contains at least GRB7, PTK2/FAK1, STAU1, ELAVL1 and TIA1. Interacts (via SH2 domain) with KIT (phosphorylated). Interacts (via SH2 domain) with TEK/TIE2 (tyrosine phosphorylated). Q03160; P70372: Elavl1; NbExp=7; IntAct=EBI-7100053, EBI-6877056; Q03160; Q02858: Tek; NbExp=3; IntAct=EBI-7100053, EBI-7099626; Q03160; Q80ZW7: Tia1; NbExp=4; IntAct=EBI-7100053, EBI-7809240; Q03160; Q03135: CAV1; Xeno; NbExp=3; IntAct=EBI-7100053, EBI-603614; Cytoplasm Cell projection Cell junction, focal adhesion Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasmic granule Note=Predominantly cytoplasmic. Detected in stress granules where mRNA is stored under stress conditions. The PH domain mediates interaction with membranes containing phosphoinositides. Phosphorylated on serine and threonine residues in response to activation of receptor kinases. Phosphorylated on tyrosine residues by TEK/TIE2. Phosphorylated on tyrosine residues by PTK2/FAK1, and possibly also other kinases. Phosphorylation is enhanced by activation of receptor kinases. Tyrosine phosphorylation is essential for activation of down-stream protein kinases (By similarity). Phosphorylated on tyrosine residues in response to NTN1 signaling. Phosphorylation promotes stress granule disassembly during recovery after cellular stress. Belongs to the GRB7/10/14 family. RNA binding SH3/SH2 adaptor activity protein binding cytoplasm cytosol plasma membrane focal adhesion signal transduction lipid binding positive regulation of signal transduction cytoplasmic stress granule membrane negative regulation of translation protein kinase binding cell junction positive regulation of cell migration stress granule assembly phosphatidylinositol binding identical protein binding cell projection insulin receptor signaling pathway negative regulation of insulin receptor signaling pathway uc007lgk.1 uc007lgk.2 
ENSMUST00000019464.8 Noxo1 ENSMUST00000019464.8 NADPH oxidase organizer 1, transcript variant 1 (from RefSeq NM_027988.4) ENSMUST00000019464.1 ENSMUST00000019464.2 ENSMUST00000019464.3 ENSMUST00000019464.4 ENSMUST00000019464.5 ENSMUST00000019464.6 ENSMUST00000019464.7 NM_027988 NOXO1_MOUSE Q3TZA4 Q8BH41 Q8VCM2 Q9D747 Snx28 uc008axs.1 uc008axs.2 uc008axs.3 uc008axs.4 uc008axs.5 Constitutively potentiates the superoxide-generating activity of NOX1 and NOX3 and is required for the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity. Isoform 3 is more potent than isoform 1 in activating NOX3. Together with NOXA1, may also substitute to NCF1/p47phox and NCF2/p67phox in supporting the phagocyte NOX2/gp91phox superoxide-generating activity. Interacts with NOX1, NOXA1 and NCF2/p67phox. Interacts with SH3PXD2A and SH3PXD2B (By similarity). Interacts with CYBA/p22phox (PubMed:17140397). Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Note=Associates with the plasma membrane in a lipid-dependent manner. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8VCM2-1; Sequence=Displayed; Name=2; IsoId=Q8VCM2-2; Sequence=VSP_017562, VSP_017563; Strongly expressed by colon epithelial cells and to a lower extent in small intestine, uterus, stomach and testis. Expressed in different parts of the inner ear including sensory and nonsensory cell layers of the saccule, ampullae of the semicircular canals, the stria vascularis and the spiral glanglion neurons. Strongly expressed in inner ear during embryogenesis. The PX domain mediates lipid-binding, localization to the plasma membrane and is required for NOX1 activation. The SH3 domains mediate interaction with CYBA/p22phox. Mice display balance defects being unable to orient themselves with respect to the gravitational force. This is associated with a defect in otoconia biogenesis in the inner ear. plasma membrane superoxide metabolic process lipid binding membrane superoxide-generating NADPH oxidase activator activity enzyme binding extracellular matrix disassembly phosphatidylinositol binding NADPH oxidase complex positive regulation of catalytic activity uc008axs.1 uc008axs.2 uc008axs.3 uc008axs.4 uc008axs.5 
ENSMUST00000019469.3 G6pc1 ENSMUST00000019469.3 glucose-6-phosphatase catalytic subunit 1 (from RefSeq NM_008061.4) ENSMUST00000019469.1 ENSMUST00000019469.2 G6PC1_MOUSE G6pc G6pt NM_008061 P35576 Q91WV3 uc007lor.1 uc007lor.2 uc007lor.3 uc007lor.4 The enzyme encoded by this gene is a multisubunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for glucose-6-phosphate, inorganic phosphate, and glucose. This gene is one of three glucose-6-phosphatase catalytic-subunit-encoding genes in mouse. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC013448.1, AK050279.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849377, SAMN00849378 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production in the terminal step of glycogenolysis and gluconeogenesis. Hence, it is the key enzyme in homeostatic regulation of blood glucose levels. Reaction=D-glucose 6-phosphate + H2O = D-glucose + phosphate; Xref=Rhea:RHEA:16689, ChEBI:CHEBI:4167, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:61548; EC=3.1.3.9; Evidence=; Carbohydrate biosynthesis; gluconeogenesis. Endoplasmic reticulum membrane ; Multi-pass membrane protein Liver and kidney. Deficient mice display hypoglycaemia, growth retardation, hepatomegaly, kidney enlargement, hyperlipidaemia, and hyperuricaemia. Belongs to the glucose-6-phosphatase family. glucose-6-phosphatase activity endoplasmic reticulum endoplasmic reticulum membrane glycogen metabolic process glycogen catabolic process gluconeogenesis triglyceride metabolic process phosphate-containing compound metabolic process steroid metabolic process regulation of gene expression glucose-6-phosphate transport membrane integral component of membrane phosphotransferase activity, alcohol group as acceptor hydrolase activity response to food multicellular organism growth phosphate ion binding glucose homeostasis cholesterol homeostasis intracellular membrane-bounded organelle urate metabolic process phosphorylated carbohydrate dephosphorylation glucose 6-phosphate metabolic process lipid homeostasis uc007lor.1 uc007lor.2 uc007lor.3 uc007lor.4 
ENSMUST00000019470.14 Psme3 ENSMUST00000019470.14 proteaseome (prosome, macropain) activator subunit 3 (PA28 gamma, Ki) (from RefSeq NM_011192.4) ENSMUST00000019470.1 ENSMUST00000019470.10 ENSMUST00000019470.11 ENSMUST00000019470.12 ENSMUST00000019470.13 ENSMUST00000019470.2 ENSMUST00000019470.3 ENSMUST00000019470.4 ENSMUST00000019470.5 ENSMUST00000019470.6 ENSMUST00000019470.7 ENSMUST00000019470.8 ENSMUST00000019470.9 NM_011192 Psme3 Q4FK54 Q4FK54_MOUSE uc007lon.1 uc007lon.2 uc007lon.3 uc007lon.4 Belongs to the PA28 family. p53 binding nucleoplasm cytosol proteolysis peptidase activity proteasome activator complex positive regulation of endopeptidase activity identical protein binding endopeptidase activator activity regulation of proteasomal protein catabolic process MDM2/MDM4 family protein binding negative regulation of extrinsic apoptotic signaling pathway uc007lon.1 uc007lon.2 uc007lon.3 uc007lon.4 
ENSMUST00000019482.8 Zfp687 ENSMUST00000019482.8 zinc finger protein 687, transcript variant 1 (from RefSeq NM_030074.3) ENSMUST00000019482.1 ENSMUST00000019482.2 ENSMUST00000019482.3 ENSMUST00000019482.4 ENSMUST00000019482.5 ENSMUST00000019482.6 ENSMUST00000019482.7 Kiaa1441 NM_030074 Q6PAP3 Q6ZPQ9 Q9D2D7 ZN687_MOUSE Znf687 uc008qhp.1 uc008qhp.2 May be involved in transcriptional regulation. Interacts with ZMYND8. Cytoplasm Nucleus Note=Predominantly nuclear. Localizes to sites of DNA damage. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9D2D7-1; Sequence=Displayed; Name=2; IsoId=Q9D2D7-2; Sequence=VSP_018170, VSP_018173; Name=3; IsoId=Q9D2D7-3; Sequence=VSP_018171, VSP_018172; Belongs to the krueppel C2H2-type zinc-finger protein family. nucleic acid binding DNA binding nucleus nucleoplasm cytoplasm cytosol biological_process metal ion binding uc008qhp.1 uc008qhp.2 
ENSMUST00000019503.14 Gdpd2 ENSMUST00000019503.14 glycerophosphodiester phosphodiesterase domain containing 2, transcript variant 1 (from RefSeq NM_023608.4) ENSMUST00000019503.1 ENSMUST00000019503.10 ENSMUST00000019503.11 ENSMUST00000019503.12 ENSMUST00000019503.13 ENSMUST00000019503.2 ENSMUST00000019503.3 ENSMUST00000019503.4 ENSMUST00000019503.5 ENSMUST00000019503.6 ENSMUST00000019503.7 ENSMUST00000019503.8 ENSMUST00000019503.9 GDPD2_MOUSE Gde3 NM_023608 Obdpf Q9ESM6 uc009twi.1 uc009twi.2 uc009twi.3 uc009twi.4 uc009twi.5 This gene encodes a member of the glycerophosphodiester phosphodiesterase enzyme family. The encoded protein hydrolyzes glycerophosphoinositol to produce inositol 1-phosphate and glycerol. Overexpression of this gene is associated with activity-dependent actin cytoskeleton disorganization. The encoded protein may negatively regulate growth rate and induce differentiation of osteoblasts. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]. Has glycerophosphoinositol inositolphosphodiesterase activity and specifically hydrolyzes glycerophosphoinositol, with no activity for other substrates such as glycerophosphoinositol 4-phosphate, glycerophosphocholine, glycerophosphoethanolamine, and glycerophosphoserine. Accelerates the program of osteoblast differentiation and growth. May play a role in remodeling of the actin cytoskeleton. Reaction=H2O + sn-glycero-3-phospho-1D-myo-inositol = 1D-myo-inositol 1-phosphate + glycerol + H(+); Xref=Rhea:RHEA:14033, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:58433, ChEBI:CHEBI:58444; EC=3.1.4.43; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Kinetic parameters: KM=97.2 mM for glycerophosphoinositol ; Vmax=1.9 nmol/min/mg enzyme ; Cell membrane ; Multi-pass membrane protein Cytoplasm Cytoplasm, cytoskeleton Note=Colocalizes with the actin cytoskeleton. Detected in spleen, femur and calvaria. Up-regulated during osteoblast differentiation. Detected at low levels in mature osteoblasts. Belongs to the glycerophosphoryl diester phosphodiesterase family. The catalytic domain of Gdpd2 is oriented extracellularly; Glycerophosphoinositol is hydrolyzed in the medium of cells overexpressing Gdpd2, whereas intracellular levels of glycerophosphoinositol is not affected. cytoplasm cytoskeleton actin filament plasma membrane lipid metabolic process phosphoric diester hydrolase activity membrane integral component of membrane hydrolase activity lamellipodium positive regulation of osteoblast differentiation metal ion binding glycerophosphoinositol inositolphosphodiesterase activity actin filament reorganization uc009twi.1 uc009twi.2 uc009twi.3 uc009twi.4 uc009twi.5 
ENSMUST00000019506.9 D8Ertd738e ENSMUST00000019506.9 DNA segment, Chr 8, ERATO Doi 738, expressed (from RefSeq NM_001007571.2) ENSMUST00000019506.1 ENSMUST00000019506.2 ENSMUST00000019506.3 ENSMUST00000019506.4 ENSMUST00000019506.5 ENSMUST00000019506.6 ENSMUST00000019506.7 ENSMUST00000019506.8 L10K_MOUSE NM_001007571 Q8R1F0 uc012ghh.1 uc012ghh.2 uc012ghh.3 May have a potential role in hypercalcemia of malignancy. Belongs to the UPF0390 family. molecular_function nucleus nucleolus biological_process uc012ghh.1 uc012ghh.2 uc012ghh.3 
ENSMUST00000019512.8 Sec14l4 ENSMUST00000019512.8 SEC14-like lipid binding 4 (from RefSeq NM_146013.1) ENSMUST00000019512.1 ENSMUST00000019512.2 ENSMUST00000019512.3 ENSMUST00000019512.4 ENSMUST00000019512.5 ENSMUST00000019512.6 ENSMUST00000019512.7 NM_146013 Q8R0F9 S14L4_MOUSE uc007hue.1 uc007hue.2 uc007hue.3 uc007hue.4 Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids. molecular_function cellular_component lipid binding uc007hue.1 uc007hue.2 uc007hue.3 uc007hue.4 
ENSMUST00000019514.10 Calm3 ENSMUST00000019514.10 calmodulin 3 (from RefSeq NM_007590.3) CALM3_MOUSE Calm3 Cam3 Camc ENSMUST00000019514.1 ENSMUST00000019514.2 ENSMUST00000019514.3 ENSMUST00000019514.4 ENSMUST00000019514.5 ENSMUST00000019514.6 ENSMUST00000019514.7 ENSMUST00000019514.8 ENSMUST00000019514.9 NM_007590 P02593 P0DP28 P62204 P70667 P99014 Q3TEH7 Q3THK5 Q3U6Z5 Q3U7C7 Q498A3 Q61379 Q61380 Q8BNC9 Q91VQ9 Q9D6G4 uc009fin.1 uc009fin.2 uc009fin.3 Calmodulin acts as part of a calcium signal transduction pathway by mediating the control of a large number of enzymes, ion channels, aquaporins and other proteins through calcium-binding. Calcium-binding is required for the activation of calmodulin. Among the enzymes to be stimulated by the calmodulin-calcium complex are a number of protein kinases, such as myosin light-chain kinases and calmodulin- dependent protein kinase type II (CaMK2), and phosphatases. Together with CCP110 and centrin, is involved in a genetic pathway that regulates the centrosome cycle and progression through cytokinesis. Interacts with CEP97, CCP110, MYO1C, TTN/titin and SRY. Interacts with MYO10. Interacts with RRAD (By similarity). Interacts with USP6; the interaction is calcium dependent (By similarity). Interacts with CDK5RAP2. Interacts with SCN5A (By similarity). Interacts with FCHO1. Interacts with MIP in a 1:2 stoichiometry; the interaction with the cytoplasmic domains from two MIP subunits promotes MIP water channel closure. Interacts with ORAI1; this may play a role in the regulation of ORAI1-mediated calcium transport (By similarity). Interacts with RYR1 (PubMed:18650434). Interacts with MYO5A (By similarity). Interacts with IQCF1 (PubMed:25380116). Interacts with SYT7 (PubMed:24569478). Interacts with CEACAM1 (via cytoplasmic domain); this interaction is in a calcium dependent manner and reduces homophilic cell adhesion through dissociation of dimer (By similarity). Interacts with RYR2; regulates RYR2 calcium-release channel activity (PubMed:18650434). Interacts with PCP4; regulates calmodulin calcium- binding (By similarity). Interacts with the heterotetrameric KCNQ2 and KCNQ3 channel; the interaction is calcium-independent, constitutive and participates in the proper assembly of a functional heterotetrameric M channel (By similarity). Cytoplasm, cytoskeleton, spindle. Cytoplasm, cytoskeleton, spindle pole. Note=Distributed throughout the cell during interphase, but during mitosis becomes dramatically localized to the spindle poles and the spindle microtubules. Ubiquitination results in a strongly decreased activity. Phosphorylation results in a decreased activity. This protein has four functional calcium-binding sites. Belongs to the calmodulin family. Sequence=BAC39089.2; Type=Erroneous translation; Note=Wrong CDS prediction.; Evidence=; G2/M transition of mitotic cell cycle spindle pole response to amphetamine regulation of heart rate calcium ion binding detection of calcium ion nucleus cytoplasm centrosome spindle cytoskeleton spindle microtubule plasma membrane activation of adenylate cyclase activity voltage-gated potassium channel complex adenylate cyclase binding adenylate cyclase activator activity regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum calcium-mediated signaling protein kinase binding protein domain specific binding sarcomere nitric-oxide synthase regulator activity growth cone synaptic vesicle membrane titin binding type 3 metabotropic glutamate receptor binding mitochondrial membrane N-terminal myristoylation domain binding regulation of cytokinesis positive regulation of phosphoprotein phosphatase activity macromolecular complex calcium channel complex positive regulation of protein dephosphorylation neuron projection myelin sheath phosphatidylinositol 3-kinase binding ion channel binding metal ion binding protein N-terminus binding calcium-dependent protein binding nitric-oxide synthase binding positive regulation of nitric-oxide synthase activity positive regulation of cyclic-nucleotide phosphodiesterase activity response to corticosterone response to calcium ion regulation of cardiac muscle contraction regulation of ryanodine-sensitive calcium-release channel activity positive regulation of ryanodine-sensitive calcium-release channel activity protein phosphatase activator activity positive regulation by host of symbiont cAMP-mediated signal transduction establishment of protein localization to membrane establishment of protein localization to mitochondrial membrane disordered domain specific binding regulation of synaptic vesicle endocytosis regulation of high voltage-gated calcium channel activity catalytic complex regulation of synaptic vesicle exocytosis uc009fin.1 uc009fin.2 uc009fin.3 
ENSMUST00000019517.10 Cops3 ENSMUST00000019517.10 COP9 signalosome subunit 3, transcript variant 7 (from RefSeq NR_184535.2) Cops3 ENSMUST00000019517.1 ENSMUST00000019517.2 ENSMUST00000019517.3 ENSMUST00000019517.4 ENSMUST00000019517.5 ENSMUST00000019517.6 ENSMUST00000019517.7 ENSMUST00000019517.8 ENSMUST00000019517.9 NR_184535 Q3UQL2 Q3UQL2_MOUSE uc007jfa.1 uc007jfa.2 uc007jfa.3 Cytoplasm Nucleus Belongs to the CSN3 family. protein deneddylation nucleus nucleoplasm cytoplasm cytosol COP9 signalosome uc007jfa.1 uc007jfa.2 uc007jfa.3 
ENSMUST00000019572.9 Zfp874b ENSMUST00000019572.9 zinc finger protein 874b (from RefSeq NM_001076791.2) ENSMUST00000019572.1 ENSMUST00000019572.2 ENSMUST00000019572.3 ENSMUST00000019572.4 ENSMUST00000019572.5 ENSMUST00000019572.6 ENSMUST00000019572.7 ENSMUST00000019572.8 NM_001076791 Q7M6X2 Q7M6X2_MOUSE Rslcan16 Zfp874b uc007raw.1 uc007raw.2 uc007raw.3 Nucleus nucleic acid binding cellular_component regulation of transcription, DNA-templated metal ion binding uc007raw.1 uc007raw.2 uc007raw.3 
ENSMUST00000019577.10 Gipc1 ENSMUST00000019577.10 GIPC PDZ domain containing family, member 1 (from RefSeq NM_018771.3) ENSMUST00000019577.1 ENSMUST00000019577.2 ENSMUST00000019577.3 ENSMUST00000019577.4 ENSMUST00000019577.5 ENSMUST00000019577.6 ENSMUST00000019577.7 ENSMUST00000019577.8 ENSMUST00000019577.9 GIPC1_MOUSE Gipc NM_018771 Q9Z0G0 Rgs19ip1 Semcap1 uc009mkr.1 uc009mkr.2 uc009mkr.3 Inhibits endothelial cell migration (in vitro). May be involved in G protein-linked signaling (By similarity). Interacts with GLUT1 (C-terminus), ACTN1, KIF1B, MYO6 and PLEKHG5 (By similarity). Interacts with RGS19 C-terminus. Interacts with SDC4/syndecan-4 and SEMA4C/semaphorin-4C. Q9Z0G0; A2ARV4: Lrp2; NbExp=2; IntAct=EBI-300855, EBI-300875; Q9Z0G0; Q64151: Sema4c; NbExp=8; IntAct=EBI-300855, EBI-987075; Q9Z0G0; Q9UM54: MYO6; Xeno; NbExp=4; IntAct=EBI-300855, EBI-350606; Cytoplasm Membrane ; Peripheral membrane protein Widely expressed. Detected already at 4.5 dpc, expression peaks at 11.5-12.5 dpc and gradually declines to its adult levels by 18.5 dpc. Belongs to the GIPC family. actin binding GTPase activator activity receptor binding protein binding cytoplasm cytosol brush border cell cortex protein targeting G-protein coupled receptor signaling pathway chemical synaptic transmission synaptic vesicle vesicle membrane glutamate secretion membrane myosin binding endocytic vesicle PDZ domain binding positive regulation of transforming growth factor beta receptor signaling pathway cytoplasmic vesicle regulation of protein stability negative regulation of proteasomal ubiquitin-dependent protein catabolic process positive regulation of cytokinesis protein homodimerization activity dendritic spine dendritic shaft endothelial cell migration positive regulation of GTPase activity positive regulation of melanin biosynthetic process regulation of synaptic plasticity cellular response to interleukin-7 presynapse postsynapse glutamatergic synapse regulation of synaptic vesicle exocytosis uc009mkr.1 uc009mkr.2 uc009mkr.3 
ENSMUST00000019608.7 Ptger1 ENSMUST00000019608.7 prostaglandin E receptor 1 (subtype EP1) (from RefSeq NM_013641.3) ENSMUST00000019608.1 ENSMUST00000019608.2 ENSMUST00000019608.3 ENSMUST00000019608.4 ENSMUST00000019608.5 ENSMUST00000019608.6 NM_013641 P35375 PE2R1_MOUSE Ptgerep1 uc009mkt.1 uc009mkt.2 uc009mkt.3 Receptor for prostaglandin E2 (PGE2). The activity of this receptor is mediated by G(q) proteins which activate a phosphatidylinositol-calcium second messenger system. May play a role as an important modulator of renal function. Implicated the smooth muscle contractile response to PGE2 in various tissues. Cell membrane; Multi-pass membrane protein. Abundant in kidney and in a lesser amount in lung. Phosphorylated. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity prostaglandin receptor activity prostaglandin E receptor activity plasma membrane inflammatory response signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway adenylate cyclase-activating dopamine receptor signaling pathway positive regulation of cytosolic calcium ion concentration membrane integral component of membrane D1 dopamine receptor binding response to lipopolysaccharide uc009mkt.1 uc009mkt.2 uc009mkt.3 
ENSMUST00000019611.15 Arhgef25 ENSMUST00000019611.15 Rho guanine nucleotide exchange factor 25, transcript variant 1 (from RefSeq NM_028027.3) Arhgef25 ENSMUST00000019611.1 ENSMUST00000019611.10 ENSMUST00000019611.11 ENSMUST00000019611.12 ENSMUST00000019611.13 ENSMUST00000019611.14 ENSMUST00000019611.2 ENSMUST00000019611.3 ENSMUST00000019611.4 ENSMUST00000019611.5 ENSMUST00000019611.6 ENSMUST00000019611.7 ENSMUST00000019611.8 ENSMUST00000019611.9 G5E825 G5E825_MOUSE NM_028027 uc007hik.1 uc007hik.2 uc007hik.3 uc007hik.4 Rho guanyl-nucleotide exchange factor activity regulation of Rho protein signal transduction uc007hik.1 uc007hik.2 uc007hik.3 uc007hik.4 
ENSMUST00000019614.13 Xab2 ENSMUST00000019614.13 XPA binding protein 2 (from RefSeq NM_026156.2) ENSMUST00000019614.1 ENSMUST00000019614.10 ENSMUST00000019614.11 ENSMUST00000019614.12 ENSMUST00000019614.2 ENSMUST00000019614.3 ENSMUST00000019614.4 ENSMUST00000019614.5 ENSMUST00000019614.6 ENSMUST00000019614.7 ENSMUST00000019614.8 ENSMUST00000019614.9 NM_026156 Q8VDT5 Q9CVD8 Q9DCD2 SYF1_MOUSE Syf1 uc009kry.1 uc009kry.2 uc009kry.3 Involved in pre-mRNA splicing as component of the spliceosome. Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing. Associates with RNA polymerase II, the TCR-specific proteins CKN1/CSA and ERCC6/CSB, and XPA. Identified in the spliceosome C complex. Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE. Identified in a pentameric intron-binding (IB) complex composed of AQR, XAB2, ISY1, ZNF830 and PPIE that is incorporated into the spliceosome as a preassembled complex. The IB complex does not contain PRPF19. Nucleus Note=Detected in the splicing complex carrying pre-mRNA. Complete embryonic lethality before 13.5 dpc. Already at 3.5 dpc, the number of homozygous mutant embryos is lower than expected. Belongs to the crooked-neck family. generation of catalytic spliceosome for first transesterification step mRNA splicing, via spliceosome Prp19 complex blastocyst development molecular_function nucleus spliceosomal complex DNA repair transcription-coupled nucleotide-excision repair transcription, DNA-templated RNA processing mRNA processing cellular response to DNA damage stimulus RNA splicing cerebral cortex development U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome post-mRNA release spliceosomal complex uc009kry.1 uc009kry.2 uc009kry.3 
ENSMUST00000019615.11 Cdc37 ENSMUST00000019615.11 cell division cycle 37, transcript variant 2 (from RefSeq NM_016742.5) CDC37_MOUSE ENSMUST00000019615.1 ENSMUST00000019615.10 ENSMUST00000019615.2 ENSMUST00000019615.3 ENSMUST00000019615.4 ENSMUST00000019615.5 ENSMUST00000019615.6 ENSMUST00000019615.7 ENSMUST00000019615.8 ENSMUST00000019615.9 NM_016742 Q3TGP0 Q61081 uc009okg.1 uc009okg.2 uc009okg.3 Co-chaperone that binds to numerous kinases and promotes their interaction with the Hsp90 complex, resulting in stabilization and promotion of their activity. Inhibits HSP90AA1 ATPase activity (By similarity). Probably forms a complex composed of chaperones HSP90 and HSP70, co-chaperones STIP1/HOP, CDC37, PPP5C, PTGES3/p23, TSC1 and client protein TSC2 (By similarity). Probably forms a complex composed of chaperones HSP90 and HSP70, co-chaperones CDC37, PPP5C, TSC1 and client protein TSC2, CDK4, AKT, RAF1 and NR3C1; this complex does not contain co-chaperones STIP1/HOP and PTGES3/p23 (By similarity). Forms a complex with Hsp90/HSP90AB1 and CDK6 (By similarity). Interacts with HSP90AA1 (By similarity). Interacts with AR, CDK4, CDK6 and EIF2AK1 (By similarity). Interacts with RB1 (By similarity). Interacts with KSR1 (PubMed:10409742). Interacts with FLCN, FNIP1 and FNIP2 (By similarity). Cytoplasm Constitutively sumoylated by UBE2I. Belongs to the CDC37 family. protein binding cytoplasm cytosol protein folding protein C-terminus binding posttranscriptional regulation of gene expression kinase binding protein kinase binding heat shock protein binding mitogen-activated protein kinase kinase kinase binding ruffle membrane macromolecular complex protein kinase B binding regulation of protein kinase activity protein stabilization unfolded protein binding chaperone binding Hsp90 protein binding regulation of interferon-gamma-mediated signaling pathway regulation of type I interferon-mediated signaling pathway scaffold protein binding mitophagy in response to mitochondrial depolarization HSP90-CDC37 chaperone complex protein kinase regulator activity uc009okg.1 uc009okg.2 uc009okg.3 
ENSMUST00000019616.6 Icam5 ENSMUST00000019616.6 intercellular adhesion molecule 5, telencephalin, transcript variant 1 (from RefSeq NM_008319.3) ENSMUST00000019616.1 ENSMUST00000019616.2 ENSMUST00000019616.3 ENSMUST00000019616.4 ENSMUST00000019616.5 G5E826 ICAM5_MOUSE Icam3 NM_008319 Q2KHL7 Q3UY19 Q60625 Tlcn uc009oka.1 uc009oka.2 uc009oka.3 uc009oka.4 ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). Membrane ; Single- pass type I membrane protein Expressed on neurons in the most rostral segment of the mammalian brain, the telencephalon. Glycosylation at Asn-54 is critical for functional folding. Belongs to the immunoglobulin superfamily. ICAM family. integrin binding protein binding plasma membrane integral component of plasma membrane phagocytosis cell adhesion membrane integral component of membrane cell-cell adhesion uc009oka.1 uc009oka.2 uc009oka.3 uc009oka.4 
ENSMUST00000019625.12 Myh8 ENSMUST00000019625.12 myosin, heavy polypeptide 8, skeletal muscle, perinatal (from RefSeq NM_177369.3) ENSMUST00000019625.1 ENSMUST00000019625.10 ENSMUST00000019625.11 ENSMUST00000019625.2 ENSMUST00000019625.3 ENSMUST00000019625.4 ENSMUST00000019625.5 ENSMUST00000019625.6 ENSMUST00000019625.7 ENSMUST00000019625.8 ENSMUST00000019625.9 MYH8_MOUSE Myhsp NM_177369 P13542 Q5SX36 uc007jmn.1 uc007jmn.2 uc007jmn.3 This gene encodes a myosin heavy chain. The encoded protein forms a hexamer with two heavy chains, two alkali light chains, and two regulatory light chain components. This complex functions in muscle contraction. This gene is located in a cluster of related genes on chromosome 11. [provided by RefSeq, Jun 2013]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC150737.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849387, SAMN01164137 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Muscle contraction. Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2). Cytoplasm, myofibril. Note=Thick filaments of the myofibrils. The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2). Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family. microfilament motor activity nucleotide binding skeletal muscle contraction motor activity actin binding protein binding ATP binding cytoplasm myosin complex ATPase activity myofibril muscle filament sliding myosin filament ATP metabolic process actin filament binding uc007jmn.1 uc007jmn.2 uc007jmn.3 
ENSMUST00000019633.8 Cd70 ENSMUST00000019633.8 CD70 antigen (from RefSeq NM_011617.2) Cd70 ENSMUST00000019633.1 ENSMUST00000019633.2 ENSMUST00000019633.3 ENSMUST00000019633.4 ENSMUST00000019633.5 ENSMUST00000019633.6 ENSMUST00000019633.7 NM_011617 Q05A52 Q05A52_MOUSE Tnlg8a uc008dee.1 uc008dee.2 Belongs to the tumor necrosis factor family. tumor necrosis factor receptor binding immune response membrane integral component of membrane tumor necrosis factor-mediated signaling pathway uc008dee.1 uc008dee.2 
ENSMUST00000019649.4 Ubb ENSMUST00000019649.4 ubiquitin B, transcript variant 1 (from RefSeq NM_011664.5) ENSMUST00000019649.1 ENSMUST00000019649.2 ENSMUST00000019649.3 NM_011664 Q78XY9 Q78XY9_MOUSE Ubb uc007jjg.1 uc007jjg.2 uc007jjg.3 This gene encodes ubiquitin, one of the most conserved proteins known. Ubiquitin has a major role in targeting cellular proteins for degradation by the 26S proteosome. It is also involved in the maintenance of chromatin structure, the regulation of gene expression, and the stress response. Ubiquitin is synthesized as a precursor protein consisting of either polyubiquitin chains or a single ubiquitin moiety fused to an unrelated protein. This gene consists of four direct repeats of the ubiquitin coding sequence with no spacer sequence. Consequently, the protein is expressed as a polyubiquitin precursor with a final amino acid after the last repeat. Pseudogenes of this gene are located on chromosomes 3 and 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]. Cytoplasm Nucleus mitochondrion positive regulation of protein ubiquitination neuron projection neuronal cell body mitochondrion transport along microtubule neuron projection morphogenesis regulation of mitochondrial membrane potential regulation of proteasomal protein catabolic process regulation of neuron death positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator positive regulation of protein monoubiquitination uc007jjg.1 uc007jjg.2 uc007jjg.3 
ENSMUST00000019660.11 Zkscan1 ENSMUST00000019660.11 zinc finger with KRAB and SCAN domains 1, transcript variant 1 (from RefSeq NM_133906.4) ENSMUST00000019660.1 ENSMUST00000019660.10 ENSMUST00000019660.2 ENSMUST00000019660.3 ENSMUST00000019660.4 ENSMUST00000019660.5 ENSMUST00000019660.6 ENSMUST00000019660.7 ENSMUST00000019660.8 ENSMUST00000019660.9 NM_133906 Q7TS88 Q8BGS3 Q8BJ55 Q9CRN6 ZKSC1_MOUSE uc009aej.1 uc009aej.2 May be involved in transcriptional regulation. Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BGS3-1; Sequence=Displayed; Name=2; IsoId=Q8BGS3-2; Sequence=VSP_016958; Belongs to the krueppel C2H2-type zinc-finger protein family. Sequence=BAC27539.1; Type=Frameshift; Evidence=; nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated metal ion binding uc009aej.1 uc009aej.2 
ENSMUST00000019662.11 Ap4m1 ENSMUST00000019662.11 adaptor-related protein complex AP-4, mu 1 (from RefSeq NM_021392.4) AP4M1_MOUSE Ap4m1 ENSMUST00000019662.1 ENSMUST00000019662.10 ENSMUST00000019662.2 ENSMUST00000019662.3 ENSMUST00000019662.4 ENSMUST00000019662.5 ENSMUST00000019662.6 ENSMUST00000019662.7 ENSMUST00000019662.8 ENSMUST00000019662.9 NM_021392 Q9JKC7 uc009aev.1 uc009aev.2 uc009aev.3 uc009aev.4 uc009aev.5 Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin- associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system (By similarity). It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons (PubMed:18341993). Within AP-4, the mu-type subunit AP4M1 is directly involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos. The adaptor protein complex 4 (AP-4) may also recognize other types of sorting signal (By similarity). Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1). Interacts with tyrosine-based sorting signals on the cytoplasmic tail of cargo proteins such as APP, ATG9A, LAMP2 and NAGPA. Interacts with the C-terminal domain of GRID2 (By similarity). Interacts with GRIA1 and GRIA2; the interaction is indirect via CACNG3 (PubMed:18341993). Interacts with CACNG3; CACNG3 associates GRIA1 and GRIA2 with the adaptor protein complex 4 (AP-4) to target them to the somatodendritic compartment of neurons (PubMed:18341993). Interacts with HOOK1 and HOOK2; the interactions are direct, mediate the interaction between FTS-Hook-FHIP (FHF) complex and AP-4 and the perinuclear distribution of AP-4 (By similarity). Golgi apparatus, trans-Golgi network membrane ; Peripheral membrane protein Early endosome Note=Found in soma and dendritic shafts of neuronal cells. Belongs to the adaptor complexes medium subunit family. protein binding endosome early endosome Golgi apparatus trans-Golgi network cytosol protein targeting protein targeting to lysosome intracellular protein transport Golgi to endosome transport protein localization protein transport membrane vesicle-mediated transport protein domain specific binding AP-4 adaptor complex clathrin adaptor complex Golgi to lysosome transport protein localization to basolateral plasma membrane uc009aev.1 uc009aev.2 uc009aev.3 uc009aev.4 uc009aev.5 
ENSMUST00000019677.12 Mknk1 ENSMUST00000019677.12 MAP kinase-interacting serine/threonine kinase 1, transcript variant 3 (from RefSeq NM_021461.5) A2A8W8 A2A8W8_MOUSE ENSMUST00000019677.1 ENSMUST00000019677.10 ENSMUST00000019677.11 ENSMUST00000019677.2 ENSMUST00000019677.3 ENSMUST00000019677.4 ENSMUST00000019677.5 ENSMUST00000019677.6 ENSMUST00000019677.7 ENSMUST00000019677.8 ENSMUST00000019677.9 Mknk1 NM_021461 uc008ufl.1 uc008ufl.2 uc008ufl.3 uc008ufl.4 This gene encodes a serine-threonine protein kinase that is activated by extracellular signal-regulated kinase or p38 mitogen-activated protein kinases, and it may function in cytokine and environmental stress responses. This kinase is required for phosphorylation of eukaryotic translation initiation factor 4E but it is not required for cell growth during development. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]. May play a role in the response to environmental stress and cytokines. Appears to regulate translation by phosphorylating EIF4E, thus increasing the affinity of this protein for the 7-methylguanosine- containing mRNA cap. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. nucleotide binding protein kinase activity protein serine/threonine kinase activity ATP binding protein phosphorylation kinase activity phosphorylation uc008ufl.1 uc008ufl.2 uc008ufl.3 uc008ufl.4 
ENSMUST00000019679.12 Armc6 ENSMUST00000019679.12 armadillo repeat containing 6 (from RefSeq NM_133972.2) ARMC6_MOUSE ENSMUST00000019679.1 ENSMUST00000019679.10 ENSMUST00000019679.11 ENSMUST00000019679.2 ENSMUST00000019679.3 ENSMUST00000019679.4 ENSMUST00000019679.5 ENSMUST00000019679.6 ENSMUST00000019679.7 ENSMUST00000019679.8 ENSMUST00000019679.9 NM_133972 Q8BNU0 Q8C4P5 Q8C7S1 Q8K2S7 Q99JQ2 Q9CWE4 uc009lzi.1 uc009lzi.2 uc009lzi.3 uc009lzi.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BNU0-1; Sequence=Displayed; Name=2; IsoId=Q8BNU0-2; Sequence=VSP_019462, VSP_019463; Methylated at His-238 by METTL9. Belongs to the ARMC6 family. Sequence=BAC38256.1; Type=Frameshift; Evidence=; hematopoietic progenitor cell differentiation molecular_function cytosol uc009lzi.1 uc009lzi.2 uc009lzi.3 uc009lzi.4 
ENSMUST00000019697.9 Haus5 ENSMUST00000019697.9 HAUS augmin-like complex, subunit 5 (from RefSeq NM_027999.1) ENSMUST00000019697.1 ENSMUST00000019697.2 ENSMUST00000019697.3 ENSMUST00000019697.4 ENSMUST00000019697.5 ENSMUST00000019697.6 ENSMUST00000019697.7 ENSMUST00000019697.8 HAUS5_MOUSE Kiaa0841 NM_027999 Q08EB3 Q0VF86 Q5HZI7 Q6ZQ35 Q8CIK2 Q9D786 uc009gfs.1 uc009gfs.2 uc009gfs.3 uc009gfs.4 Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly (By similarity). Interacts with EML3 (phosphorylated at 'Thr-882') (By similarity). Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9D786-1; Sequence=Displayed; Name=2; IsoId=Q9D786-2; Sequence=VSP_013929, VSP_013930; Belongs to the HAUS5 family. Sequence=AAH23723.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=AAH89002.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; molecular_function cytoplasm centrosome microtubule organizing center spindle cytoskeleton microtubule cell cycle centrosome cycle spindle assembly cell division HAUS complex uc009gfs.1 uc009gfs.2 uc009gfs.3 uc009gfs.4 
ENSMUST00000019701.9 Dusp9 ENSMUST00000019701.9 dual specificity phosphatase 9 (from RefSeq NM_029352.3) Dusp9 ENSMUST00000019701.1 ENSMUST00000019701.2 ENSMUST00000019701.3 ENSMUST00000019701.4 ENSMUST00000019701.5 ENSMUST00000019701.6 ENSMUST00000019701.7 ENSMUST00000019701.8 NM_029352 Q7TNL7 Q7TNL7_MOUSE uc009tmb.1 uc009tmb.2 uc009tmb.3 Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA- COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16; Evidence=; Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48; Evidence=; Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily. inactivation of MAPK activity phosphoprotein phosphatase activity protein tyrosine phosphatase activity cytoplasm cytosol protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity kinase activity phosphorylation dephosphorylation hydrolase activity phosphatase activity MAP kinase tyrosine/serine/threonine phosphatase activity peptidyl-tyrosine dephosphorylation uc009tmb.1 uc009tmb.2 uc009tmb.3 
ENSMUST00000019708.12 Arid3a ENSMUST00000019708.12 AT-rich interaction domain 3A, transcript variant 1 (from RefSeq NM_007880.4) ARI3A_MOUSE Dri1 Dril1 ENSMUST00000019708.1 ENSMUST00000019708.10 ENSMUST00000019708.11 ENSMUST00000019708.2 ENSMUST00000019708.3 ENSMUST00000019708.4 ENSMUST00000019708.5 ENSMUST00000019708.6 ENSMUST00000019708.7 ENSMUST00000019708.8 ENSMUST00000019708.9 NM_007880 Q3U338 Q62431 Q80YP8 uc007gap.1 uc007gap.2 uc007gap.3 Transcription factor involved in B-cell differentiation. Binds a VH promoter proximal site necessary for induced mu-heavy-chain transcription. Binds the minor groove of a restricted ATC sequence that is sufficient for nuclear matrix association. This sequence motif is present in matrix-associating regions (MARS) proximal to the promoter and flanking E mu. Activates E mu-driven transcription by binding these sites. May be involved in the control of cell cycle progression by the RB1/E2F1 pathway. Homodimer. Heterodimer with ARID3B. Interacts with E2F1 (By similarity). Interacts with GTF2I and BTK. Nucleus. Cytoplasm. Note=Shuttles between nucleus and cytoplasm. B-cell specific in the adult. Expressed in B-cell progenitors, down-regulated in the immature B-cell stage, and is up- regulated again at later stages of B-lymphocyte differentiation. Expressed in lymphocytes from fetal liver. Expressed in fetal thymus and brain. RNA polymerase II regulatory region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm cytosol regulation of transcription, DNA-templated protein homodimerization activity intracellular membrane-bounded organelle membrane raft positive regulation of transcription from RNA polymerase II promoter uc007gap.1 uc007gap.2 uc007gap.3 
ENSMUST00000019721.7 Pdk4 ENSMUST00000019721.7 pyruvate dehydrogenase kinase, isoenzyme 4 (from RefSeq NM_013743.2) ENSMUST00000019721.1 ENSMUST00000019721.2 ENSMUST00000019721.3 ENSMUST00000019721.4 ENSMUST00000019721.5 ENSMUST00000019721.6 NM_013743 Pdk4 Q544J2 Q544J2_MOUSE uc009awk.1 uc009awk.2 uc009awk.3 Reaction=ATP + L-seryl-[pyruvate dehydrogenase E1 alpha subunit] = ADP + H(+) + O-phospho-L-seryl-[pyruvate dehydrogenase E1 alpha subunit]; Xref=Rhea:RHEA:23052, Rhea:RHEA-COMP:13689, Rhea:RHEA-COMP:13690, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.2; Evidence=; Homodimer. Interacts with the pyruvate dehydrogenase complex subunit DLAT, and is part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). Mitochondrion matrix Belongs to the PDK/BCKDK protein kinase family. nucleotide binding protein kinase activity ATP binding mitochondrion mitochondrial matrix protein phosphorylation insulin receptor signaling pathway cellular response to starvation regulation of acetyl-CoA biosynthetic process from pyruvate regulation of glucose metabolic process kinase activity phosphorylation transferase activity regulation of fatty acid biosynthetic process cellular response to fatty acid reactive oxygen species metabolic process negative regulation of anoikis uc009awk.1 uc009awk.2 uc009awk.3 
ENSMUST00000019722.12 Ubxn6 ENSMUST00000019722.12 UBX domain protein 6, transcript variant 1 (from RefSeq NM_024432.3) B8JJA5 ENSMUST00000019722.1 ENSMUST00000019722.10 ENSMUST00000019722.11 ENSMUST00000019722.2 ENSMUST00000019722.3 ENSMUST00000019722.4 ENSMUST00000019722.5 ENSMUST00000019722.6 ENSMUST00000019722.7 ENSMUST00000019722.8 ENSMUST00000019722.9 NM_024432 Q3TTP1 Q3UG19 Q8C4D6 Q91W79 Q99PL6 Q9D7L9 UBXN6_MOUSE Ubxd1 Ubxdc2 Ubxn6 uc008dat.1 uc008dat.2 uc008dat.3 uc008dat.4 May negatively regulate the ATPase activity of VCP, an ATP- driven segregase that associates with different cofactors to control a wide variety of cellular processes. As a cofactor of VCP, it may play a role in the transport of CAV1 to lysosomes for degradation. It may also play a role in endoplasmic reticulum-associated degradation (ERAD) of misfolded proteins. Together with VCP and other cofactors, it may play a role in macroautophagy, regulating for instance the clearance of damaged lysosomes. Interacts with VCP through the PUB domain (via C-terminus) and VIM motif (via N-terminus); the interaction is direct. Forms a ternary complex with CAV1 and VCP. Interacts with SYVN1. Interacts with HERPUD1. Interacts with VCPKMT. May interact with DERL1. Interacts with PLAA, VCP and YOD1; may form a complex involved in macroautophagy. Interacts with LMAN1. Cytoplasm Cytoplasm, cytosol Membrane ; Peripheral membrane protein Nucleus Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Early endosome membrane ; Peripheral membrane protein Late endosome membrane ; Peripheral membrane protein Lysosome membrane ; Peripheral membrane protein Note=Localizes at the centrosome both in interphase and during mitosis. May be recruited to endosomal and lysosomal membranes as part of a ternary complex with CAV1 and VCP. Recruited to damaged lysosomes decorated with K48-linked ubiquitin chains. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99PL6-1; Sequence=Displayed; Name=2; IsoId=Q99PL6-2; Sequence=VSP_007454; Widely expressed (at protein level). Highest expression in brain (at protein level). The UBX domain lacks key residues critical for VCP binding. Sequence=BAB26082.1; Type=Frameshift; Evidence=; Sequence=BAC38512.1; Type=Frameshift; Evidence=; Sequence=BAE36284.1; Type=Frameshift; Evidence=; nucleus cytoplasm lysosome lysosomal membrane endosome microtubule organizing center cytosol cytoskeleton membrane macroautophagy extrinsic component of membrane early endosome membrane late endosome membrane endosome to lysosome transport via multivesicular body sorting pathway macromolecular complex ERAD pathway uc008dat.1 uc008dat.2 uc008dat.3 uc008dat.4 
ENSMUST00000019723.8 Mydgf ENSMUST00000019723.8 myeloid derived growth factor (from RefSeq NM_080837.2) A2RSI7 D17Wsu104e ENSMUST00000019723.1 ENSMUST00000019723.2 ENSMUST00000019723.3 ENSMUST00000019723.4 ENSMUST00000019723.5 ENSMUST00000019723.6 ENSMUST00000019723.7 MYDGF_MOUSE Mydgf NM_080837 Q3UG74 Q9CPT4 uc008dbg.1 uc008dbg.2 uc008dbg.3 The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was identified in error as interleukin 25. This activity has not been reproducible, however, and the function of this protein is currently unknown. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AK148083.1, SRR1660811.391021.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849381, SAMN00849382 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Bone marrow-derived monocyte and paracrine-acting protein that promotes cardiac myocyte survival and adaptive angiogenesis for cardiac protection and/or repair after myocardial infarction (MI). Stimulates endothelial cell proliferation through a MAPK1/3-, STAT3- and CCND1-mediated signaling pathway. Inhibits cardiac myocyte apoptosis in a PI3K/AKT-dependent signaling pathway. Secreted doplasmic reticulum-Golgi intermediate compartment Endoplasmic reticulum Golgi apparatus Note=The C-terminal RTEL motif may provide retention in the endoplasmic reticulum. Expressed in prostate, spleen and lung, and weakly expressed in the left ventricle (LF) and liver. Expressed predominantly in inflammatory cells, such as monocytes and macrophages, and weakly expressed in neutrophils, T-cells, B-cells, endothelial cells and cardiac myocytes, after myocardial infarction (MI) (at protein level). Up-regulated by ischemia/hypoxia and reperfusion (IR) injury in the left ventricle (at protein level) (PubMed:25581518). Up- regulated during adipocyte differentiation (at protein level) (PubMed:15378209). Mice show normal postnatal body mass gain, develop normally and are fertile. Show larger infarct collagen-rich scars and more severe heart contractile dysfunction compared to wild- type mice after ischemia and reperfusion (IR) injury. Belongs to the MYDGF family. Was originally thought to signal lymphoid cells to proliferate via thymic shared antigen 1 (PubMed:11714798). This work was later retracted (PubMed:12538725). It has been reported that MYDGF is secreted into blood plasma (PubMed:15378209, PubMed:25581518). However, another report studying human MYDGF shows resident localization to the endoplasmic reticulum and Golgi apparatus and secretion when the two most C-terminal residues of the RTEL motif are abolished (By similarity). Sequence=BAB25931.2; Type=Erroneous initiation; Evidence=; angiogenesis positive regulation of protein phosphorylation positive regulation of endothelial cell proliferation extracellular region extracellular space endoplasmic reticulum endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus apoptotic process positive regulation of phosphatidylinositol 3-kinase signaling negative regulation of apoptotic process positive regulation of MAPK cascade positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter positive regulation of protein kinase B signaling uc008dbg.1 uc008dbg.2 uc008dbg.3 
ENSMUST00000019726.8 Plin3 ENSMUST00000019726.8 perilipin 3 (from RefSeq NM_025836.3) ENSMUST00000019726.1 ENSMUST00000019726.2 ENSMUST00000019726.3 ENSMUST00000019726.4 ENSMUST00000019726.5 ENSMUST00000019726.6 ENSMUST00000019726.7 M6prbp1 NM_025836 PLIN3_MOUSE Q3TK05 Q8BKV9 Q9CZK1 Q9DBG5 Tip47 uc008dbn.1 uc008dbn.2 uc008dbn.3 Structural component of lipid droplets, which is required for the formation and maintenance of lipid storage droplets. Required for the transport of mannose 6-phosphate receptors (MPR) from endosomes to the trans-Golgi network. Homooligomer. Interacts with M6PR (via the cytoplasmic domain). Interacts with IGF2R (via the cytoplasmic domain). Q9DBG5; P63017: Hspa8; NbExp=2; IntAct=EBI-643495, EBI-433443; Lipid droplet Endosome membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasm Note=Membrane associated on endosomes. Detected in the envelope and the core of lipid bodies and in lipid sails. Phosphorylation at Tyr-255 by isoform 1 of CHKA (CHKalpha2) promotes dissociation from lipid droplets: dissociation is followed by recruitment of autophagosome machinery to lipid droplets and subsequent lipid droplet lipolysis. Belongs to the perilipin family. Sequence=BAC33798.1; Type=Frameshift; Evidence=; protein binding cytoplasm endosome lipid particle cytosol endosome membrane membrane uc008dbn.1 uc008dbn.2 uc008dbn.3 
ENSMUST00000019734.11 Cyb561 ENSMUST00000019734.11 cytochrome b-561, transcript variant 2 (from RefSeq NM_007805.5) CY561_MOUSE Cyb561 ENSMUST00000019734.1 ENSMUST00000019734.10 ENSMUST00000019734.2 ENSMUST00000019734.3 ENSMUST00000019734.4 ENSMUST00000019734.5 ENSMUST00000019734.6 ENSMUST00000019734.7 ENSMUST00000019734.8 ENSMUST00000019734.9 Mcyt NM_007805 Q3TEC6 Q60720 Q9D6C9 uc007lxr.1 uc007lxr.2 uc007lxr.3 Transmembrane reductase that uses ascorbate as an electron donor in the cytoplasm and transfers electrons across membranes to reduce monodehydro-L-ascorbate radical in the lumen of secretory vesicles (Probable). It is therefore involved the regeneration and homeostasis within secretory vesicles of ascorbate which in turn provides reducing equivalents needed to support the activity of intravesicular enzymes (By similarity). Reaction=L-ascorbate(in) + monodehydro-L-ascorbate radical(out) = L- ascorbate(out) + monodehydro-L-ascorbate radical(in); Xref=Rhea:RHEA:66524, ChEBI:CHEBI:38290, ChEBI:CHEBI:59513; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:66525; Evidence=; Name=heme b; Xref=ChEBI:CHEBI:60344; Evidence=; Note=Binds 2 heme b groups non-covalently. ; Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane ; Multi-pass membrane protein Note=Secretory vesicle containing catecholamines and amidated peptides. Abundantly distributed in a number of neuroendocrine tissues. Mice lacking Cyb561 have significantly decreased amounts of norepinephrine and normetanephrine in the adrenal gland and brain while the biosynthesis of dopamine, the norepinephrine precursor, is normal pointing to a defect in the catecholamine biosynthesis downstream of dopamine probably at the level of the dopamine beta synthase. ferric-chelate reductase activity lysosomal membrane membrane integral component of membrane oxidoreductase activity electron transport chain transport vesicle membrane cytoplasmic vesicle metal ion binding oxidation-reduction process uc007lxr.1 uc007lxr.2 uc007lxr.3 
ENSMUST00000019803.9 Ccdc12 ENSMUST00000019803.9 coiled-coil domain containing 12 (from RefSeq NM_028312.3) CCD12_MOUSE ENSMUST00000019803.1 ENSMUST00000019803.2 ENSMUST00000019803.3 ENSMUST00000019803.4 ENSMUST00000019803.5 ENSMUST00000019803.6 ENSMUST00000019803.7 ENSMUST00000019803.8 NM_028312 Q8R344 Q9CZH5 uc009rum.1 uc009rum.2 uc009rum.3 uc009rum.4 molecular_function U2-type spliceosomal complex biological_process post-mRNA release spliceosomal complex uc009rum.1 uc009rum.2 uc009rum.3 uc009rum.4 
ENSMUST00000019808.12 Plin5 ENSMUST00000019808.12 perilipin 5, transcript variant 1 (from RefSeq NM_025874.3) ENSMUST00000019808.1 ENSMUST00000019808.10 ENSMUST00000019808.11 ENSMUST00000019808.2 ENSMUST00000019808.3 ENSMUST00000019808.4 ENSMUST00000019808.5 ENSMUST00000019808.6 ENSMUST00000019808.7 ENSMUST00000019808.8 ENSMUST00000019808.9 Lsdp5 Mldp NM_025874 Oxpat PLIN5_MOUSE Pat1 Q78IK8 Q8BVZ1 uc008dba.1 uc008dba.2 uc008dba.3 Lipid droplet-associated protein that maintains the balance between lipogenesis and lipolysis and also regulates fatty acid oxidation in oxidative tissues. Recruits mitochondria to the surface of lipid droplets and is involved in lipid droplet homeostasis by regulating both the storage of fatty acids in the form of triglycerides and the release of fatty acids for mitochondrial fatty acid oxidation. In lipid droplet triacylglycerol hydrolysis, plays a role as a scaffolding protein for three major key lipolytic players: ABHD5, PNPLA2 and LIPE. Reduces the triacylglycerol hydrolase activity of PNPLA2 by recruiting and sequestering PNPLA2 to lipid droplets. Phosphorylation by PKA enables lipolysis probably by promoting release of ABHD5 from the perilipin scaffold and by facilitating interaction of ABHD5 with PNPLA2. Also increases lipolysis through interaction with LIPE and upon PKA-mediated phosphorylation of LIPE. Homooligomer. Interacts with PNPLA2; prevents interaction of PNPLA2 with ABHD5. Interacts with ABHD5; targets ABHD5 to lipid droplets and promotes interaction of ABHD5 with PNPLA2. Interacts with LIPE. Lipid droplet toplasm Mitochondrion Note=Lipid droplet surface-associated (PubMed:17234449, PubMed:17130488, PubMed:16571721). Exchanges between lipid droplets and the cytoplasm (PubMed:19717842). Event=Alternative initiation; Named isoforms=2; Name=1; IsoId=Q8BVZ1-1; Sequence=Displayed; Name=2; IsoId=Q8BVZ1-2; Sequence=VSP_034085; Highly expressed in oxidative tissues, including heart, liver, brown adipose tissue (BAT) and slow-twitch fibers of skeletal muscle. Lower expression in epididymal white adipose tissue and anterior tibialis and quadriceps. Expressed in adrenal glands. Isoform 2 has the highest expression in heart. Up-regulated by fasting, PPARD, PPARA and PLIN4. Increased in muscle of high-fat diet fed mice. Induced by unsaturated long chain fatty acid in muscle. Phosphorylated by PKA. Phosphorylated on serine in skeletal muscle at rest or with lipolytic stimulation. No visible phenotype. Mice lack detectable lipid droplets in heart. The triacylglycerol and fatty acid content in heart is lower. Belongs to the perilipin family. protein binding cytoplasm mitochondrion lipid particle cytosol lipid metabolic process positive regulation of triglyceride biosynthetic process positive regulation of lipid storage positive regulation of sequestering of triglyceride negative regulation of triglyceride catabolic process lipid storage negative regulation of fatty acid beta-oxidation positive regulation of fatty acid beta-oxidation lipid particle organization negative regulation of peroxisome proliferator activated receptor signaling pathway lipase binding identical protein binding negative regulation of lipid catabolic process mitochondrion localization negative regulation of lipase activity positive regulation of lipase activity negative regulation of reactive oxygen species metabolic process uc008dba.1 uc008dba.2 uc008dba.3 
ENSMUST00000019833.5 Fmc1 ENSMUST00000019833.5 formation of mitochondrial complex V assembly factor 1 (from RefSeq NM_025363.3) ENSMUST00000019833.1 ENSMUST00000019833.2 ENSMUST00000019833.3 ENSMUST00000019833.4 FMC1_MOUSE NM_025363 Q9CR13 uc009bki.1 uc009bki.2 uc009bki.3 Plays a role in the assembly/stability of the mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V). Interacts with ATPAF2. Mitochondrion Belongs to the FMC1 family. molecular_function mitochondrion mitochondrial proton-transporting ATP synthase complex assembly negative regulation of lipid catabolic process regulation of type B pancreatic cell proliferation uc009bki.1 uc009bki.2 uc009bki.3 
ENSMUST00000019854.13 Mrpl24 ENSMUST00000019854.13 mitochondrial ribosomal protein L24 (from RefSeq NM_026591.3) ENSMUST00000019854.1 ENSMUST00000019854.10 ENSMUST00000019854.11 ENSMUST00000019854.12 ENSMUST00000019854.2 ENSMUST00000019854.3 ENSMUST00000019854.4 ENSMUST00000019854.5 ENSMUST00000019854.6 ENSMUST00000019854.7 ENSMUST00000019854.8 ENSMUST00000019854.9 NM_026591 Q9CQ06 Q9CX51 Q9D1L7 Q9D7R6 RM24_MOUSE uc008pte.1 uc008pte.2 uc008pte.3 Component of the mitochondrial ribosome large subunit (39S) which comprises a 16S rRNA and about 50 distinct proteins. Mitochondrion Belongs to the universal ribosomal protein uL24 family. structural constituent of ribosome mitochondrion mitochondrial large ribosomal subunit ribosome translation uc008pte.1 uc008pte.2 uc008pte.3 
ENSMUST00000019859.9 Gle1 ENSMUST00000019859.9 GLE1 RNA export mediator (from RefSeq NM_028923.3) A3KGV8 ENSMUST00000019859.1 ENSMUST00000019859.2 ENSMUST00000019859.3 ENSMUST00000019859.4 ENSMUST00000019859.5 ENSMUST00000019859.6 ENSMUST00000019859.7 ENSMUST00000019859.8 GLE1_MOUSE Gle1l NM_028923 Q3TT10 Q3TU23 Q3UD65 Q8BT16 Q8R322 Q9D4A6 uc008jaq.1 uc008jaq.2 uc008jaq.3 uc008jaq.4 Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. May be involved in the terminal step of the mRNA transport through the nuclear pore complex (NPC) (By similarity). Associated with the NPC, however it may not be a stable component of the NPC complex since it shuttles between the nucleus and the cytoplasm. Interacts with nuclear pore complex proteins NUP155 and NUPL2 (By similarity). Nucleus Cytoplasm Nucleus, nuclear pore complex Note=Shuttles between the nucleus and the cytoplasm. Shuttling is essential for its mRNA export function. Belongs to the GLE1 family. Sequence=BAC25796.1; Type=Frameshift; Evidence=; Sequence=BAE36515.1; Type=Frameshift; Evidence=; inositol hexakisphosphate binding phospholipid binding nucleus nuclear pore nucleolus cytoplasm cytosol mRNA export from nucleus regulation of translational initiation regulation of translational termination protein transport poly(A)+ mRNA export from nucleus translation initiation factor binding nuclear membrane identical protein binding nuclear pore cytoplasmic filaments mRNA transport uc008jaq.1 uc008jaq.2 uc008jaq.3 uc008jaq.4 
ENSMUST00000019862.3 L3hypdh ENSMUST00000019862.3 L-3-hydroxyproline dehydratase (trans-) (from RefSeq NM_026038.2) B8JJ82 ENSMUST00000019862.1 ENSMUST00000019862.2 NM_026038 Q99KB5 Q9CXA2 T3HPD_MOUSE uc007nvd.1 uc007nvd.2 uc007nvd.3 Catalyzes the dehydration of trans-3-hydroxy-L-proline to delta-1-pyrroline-2-carboxylate (Pyr2C). Reaction=trans-3-hydroxy-L-proline = 1-pyrroline-2-carboxylate + H2O; Xref=Rhea:RHEA:10320, ChEBI:CHEBI:15377, ChEBI:CHEBI:39785, ChEBI:CHEBI:57938; EC=4.2.1.77; Evidence=; Homodimer. In contrast to the T.cruzi proline racemase enzyme, lacks the conserved Cys at position 273 which is replaced by a Thr residue, transforming the racemase activity into dehydratase activity. Belongs to the proline racemase family. cellular_component lyase activity hydro-lyase activity trans-L-3-hydroxyproline dehydratase activity proline racemase activity uc007nvd.1 uc007nvd.2 uc007nvd.3 
ENSMUST00000019876.12 Calr3 ENSMUST00000019876.12 calreticulin 3, transcript variant 1 (from RefSeq NM_028500.3) CALR3_MOUSE Crt2 ENSMUST00000019876.1 ENSMUST00000019876.10 ENSMUST00000019876.11 ENSMUST00000019876.2 ENSMUST00000019876.3 ENSMUST00000019876.4 ENSMUST00000019876.5 ENSMUST00000019876.6 ENSMUST00000019876.7 ENSMUST00000019876.8 ENSMUST00000019876.9 G5E827 NM_028500 Q9D9Q6 uc009mfx.1 uc009mfx.2 uc009mfx.3 CALR3 capacity for calcium-binding may be absent or much lower than that of CALR (By similarity). During spermatogenesis, may act as a lectin-independent chaperone for specific client proteins such as ADAM3. Required for sperm fertility. Component of an EIF2 complex at least composed of CELF1/CUGBP1, CALR, CALR3, EIF2S1, EIF2S2, HSP90B1 and HSPA5. Endoplasmic reticulum lumen Testis specific, absent in mature sperm. Defective sperm migration from the uterus into the oviduct and defective binding to the zona pellucida. Belongs to the calreticulin family. calcium ion binding protein binding nuclear envelope endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane protein folding spermatogenesis cell differentiation endoplasmic reticulum unfolded protein response protein binding involved in protein folding unfolded protein binding uc009mfx.1 uc009mfx.2 uc009mfx.3 
ENSMUST00000019878.8 Leng1 ENSMUST00000019878.8 leukocyte receptor cluster (LRC) member 1 (from RefSeq NM_027203.3) ENSMUST00000019878.1 ENSMUST00000019878.2 ENSMUST00000019878.3 ENSMUST00000019878.4 ENSMUST00000019878.5 ENSMUST00000019878.6 ENSMUST00000019878.7 LENG1_MOUSE NM_027203 Q9DB98 uc009evm.1 uc009evm.2 uc009evm.3 molecular_function cellular_component biological_process uc009evm.1 uc009evm.2 uc009evm.3 
ENSMUST00000019882.16 Polr2i ENSMUST00000019882.16 polymerase (RNA) II (DNA directed) polypeptide I (from RefSeq NM_027259.1) ENSMUST00000019882.1 ENSMUST00000019882.10 ENSMUST00000019882.11 ENSMUST00000019882.12 ENSMUST00000019882.13 ENSMUST00000019882.14 ENSMUST00000019882.15 ENSMUST00000019882.2 ENSMUST00000019882.3 ENSMUST00000019882.4 ENSMUST00000019882.5 ENSMUST00000019882.6 ENSMUST00000019882.7 ENSMUST00000019882.8 ENSMUST00000019882.9 NM_027259 P60898 RPB9_MOUSE uc009gdt.1 uc009gdt.2 uc009gdt.3 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase II which synthesizes mRNA precursors and many functional non-coding RNAs. Pol II is the central component of the basal RNA polymerase II transcription machinery. It is composed of mobile elements that move relative to each other. RPB9 is part of the upper jaw surrounding the central large cleft and thought to grab the incoming DNA template (By similarity). Component of the RNA polymerase II (Pol II) complex consisting of 12 subunits. Nucleus, nucleolus Belongs to the archaeal RpoM/eukaryotic RPA12/RPB9/RPC11 RNA polymerase family. maintenance of transcriptional fidelity during DNA-templated transcription elongation from RNA polymerase II promoter nucleic acid binding DNA-directed 5'-3' RNA polymerase activity nucleus nucleoplasm DNA-directed RNA polymerase II, core complex nucleolus transcription-coupled nucleotide-excision repair transcription, DNA-templated transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter mRNA cleavage zinc ion binding metal ion binding uc009gdt.1 uc009gdt.2 uc009gdt.3 
ENSMUST00000019896.5 Iyd ENSMUST00000019896.5 iodotyrosine deiodinase (from RefSeq NM_027391.4) Dehal1 ENSMUST00000019896.1 ENSMUST00000019896.2 ENSMUST00000019896.3 ENSMUST00000019896.4 IYD1_MOUSE NM_027391 Q9DCX8 uc007ehp.1 uc007ehp.2 uc007ehp.3 Catalyzes the dehalogenation of halotyrosines such as 3- bromo-L-tyrosine, 3-chloro-L-tyrosine, 3-iodo-L-tyrosine and 3,5- diiodo-L-tyrosine (By similarity). During thyroid hormone biosynthesis, facilitates iodide salvage by catalysing the oxidative NADPH-dependent deiodination of the halogenated by-products of thyroid hormone production, monoiodotyrosine (L-MIT) and diiodotyrosine (L-DIT) (PubMed:22238141). The scavanged iodide can then reenter the hormone- producing pathways (By similarity). Acts more efficiently on 3-iodo-L- tyrosine than 3,5-diiodo-L-tyrosine (By similarity). Reaction=2 iodide + L-tyrosine + 2 NADP(+) = 3,5-diiodo-L-tyrosine + H(+) + 2 NADPH; Xref=Rhea:RHEA:32479, ChEBI:CHEBI:15378, ChEBI:CHEBI:16382, ChEBI:CHEBI:57506, ChEBI:CHEBI:57783, ChEBI:CHEBI:58315, ChEBI:CHEBI:58349; EC=1.21.1.1; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:32481; Evidence=; Reaction=iodide + L-tyrosine + NADP(+) = 3-iodo-L-tyrosine + NADPH; Xref=Rhea:RHEA:27453, ChEBI:CHEBI:16382, ChEBI:CHEBI:57783, ChEBI:CHEBI:58315, ChEBI:CHEBI:58349, ChEBI:CHEBI:59898; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:27455; Evidence=; Reaction=3-iodo-L-tyrosine + iodide + NADP(+) = 3,5-diiodo-L-tyrosine + H(+) + NADPH; Xref=Rhea:RHEA:27457, ChEBI:CHEBI:15378, ChEBI:CHEBI:16382, ChEBI:CHEBI:57506, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:59898; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:27459; Evidence=; Reaction=chloride + L-tyrosine + NADP(+) = 3-chloro-L-tyrosine + NADPH; Xref=Rhea:RHEA:70343, ChEBI:CHEBI:17996, ChEBI:CHEBI:57783, ChEBI:CHEBI:58315, ChEBI:CHEBI:58349, ChEBI:CHEBI:189422; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:70345; Evidence=; Reaction=bromide + L-tyrosine + NADP(+) = 3-bromo-L-tyrosine + NADPH; Xref=Rhea:RHEA:70347, ChEBI:CHEBI:15858, ChEBI:CHEBI:57783, ChEBI:CHEBI:58315, ChEBI:CHEBI:58349, ChEBI:CHEBI:189423; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:70349; Evidence=; Name=FMN; Xref=ChEBI:CHEBI:58210; Evidence= Homodimer. Cell membrane ; Single-pass membrane protein Cytoplasmic vesicle membrane Belongs to the nitroreductase family. iodide peroxidase activity nucleoplasm plasma membrane integral component of plasma membrane tyrosine metabolic process FMN binding membrane integral component of membrane oxidoreductase activity cytoplasmic vesicle membrane cytoplasmic vesicle thyroid hormone metabolic process oxidation-reduction process cellular oxidant detoxification uc007ehp.1 uc007ehp.2 uc007ehp.3 
ENSMUST00000019906.6 Vip ENSMUST00000019906.6 vasoactive intestinal polypeptide, transcript variant 1 (from RefSeq NM_011702.3) A0A0R4J003 A0A0R4J003_MOUSE ENSMUST00000019906.1 ENSMUST00000019906.2 ENSMUST00000019906.3 ENSMUST00000019906.4 ENSMUST00000019906.5 NM_011702 Vip uc007egk.1 uc007egk.2 uc007egk.3 uc007egk.4 This gene encodes a neuropeptide of the glucagon/secretin superfamily with potent bronchodilator, immunomodulator and anti-inflammatory properties. The encoded protein is proteolytically processed to generate two structurally similar neuropeptides - vasoactive intestinal peptide (VIP) and peptide histidine isoleucine (PHI). In the digestive tract, VIP stimulates relaxation of enteric smooth muscle, secretion of water and electrolytes, release of insulin and glucagon, and inhibition of gastric acid secretion. In the cardiovascular system, VIP causes coronary vasodilation and stimulates contractility in the heart. Mice lacking VIP exhibit airway hyperresponsiveness and airway inflammation. Male mice lacking VIP exhibit moderate pulmonary arterial hypertension resulting in increased mortality. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. VIP causes vasodilation, lowers arterial blood pressure, stimulates myocardial contractility, increases glycogenolysis and relaxes the smooth muscle of trachea, stomach and gall bladder. Secreted Belongs to the glucagon family. hormone activity extracellular region adenylate cyclase-activating G-protein coupled receptor signaling pathway regulation of protein localization positive regulation of protein catabolic process peptide hormone receptor binding uc007egk.1 uc007egk.2 uc007egk.3 uc007egk.4 
ENSMUST00000019907.8 Fbxo5 ENSMUST00000019907.8 F-box protein 5 (from RefSeq NM_025995.2) ENSMUST00000019907.1 ENSMUST00000019907.2 ENSMUST00000019907.3 ENSMUST00000019907.4 ENSMUST00000019907.5 ENSMUST00000019907.6 ENSMUST00000019907.7 Emi1 FBX5_MOUSE Fbxo5 NM_025995 Q7TSG3 uc007egj.1 uc007egj.2 uc007egj.3 Regulator of APC activity during mitotic and meiotic cell cycle (PubMed:17190794, PubMed:15526037, PubMed:16809773). During mitotic cell cycle plays a role as both substrate and inhibitor of APC- FZR1 complex (PubMed:16809773). During G1 phase, plays a role as substrate of APC-FZR1 complex E3 ligase. Then switches as an inhibitor of APC-FZR1 complex during S and G2 leading to cell-cycle commitment. As APC inhibitor, prevents the degradation of APC substrates at multiple levels: by interacting with APC and blocking access of APC substrates to the D-box co-receptor, formed by FZR1 and ANAPC10; by suppressing ubiquitin ligation and chain elongation by APC by preventing the UBE2C and UBE2S activities. Plays a role in genome integrity preservation by coordinating DNA replication with mitosis through APC inhibition in interphase to stabilize CCNA2 and GMNN in order to promote mitosis and prevent rereplication and DNA damage- induced cellular senescence (By similarity). During oocyte maturation, plays a role in meiosis through inactivation of APC-FZR1 complex. Inhibits APC through RPS6KA2 interaction that increases FBXO5 affiniy for CDC20 leading to the metaphase arrest of the second meiotic division before fertilization (PubMed:15526037). Controls entry into the first meiotic division through inactivation of APC-FZR1 complex (PubMed:17190794). Promotes migration and osteogenic differentiation of mesenchymal stem cells (By similarity). Protein modification; protein ubiquitination. Part of a SCF (SKP1-cullin-F-box) protein ligase complex. Interacts with BTRC; mediates proteolysis by the SCF ubiquitin ligase complex leading to activation of APC in late mitosis and subsequent mitotic progression. Interacts with FZR1/CDH1 and the N-terminal substrate-binding domain of CDC20; prevents APC activation. Also interacts with EVI5 which blocks its phosphorylation by PLK1 and prevents its subsequent binding to BTRC and degradation. Interacts simultaneously with anaphase promoting complex (APC), through at least ANAPC2, CDC23, CDC27, the APC substrate GMNN and the APC activator FZR1. Interacts with UBE2S; interferes with the activity of UBE2S mainly by disrupting the dynamic electrostatic association between the C-terminal tail of UBE2S and ANAPC2 (By similarity). Interacts with RPS6KA2; cooperates to induce the metaphase arrest of early blastomeres; increases and stabilizes interaction of FBXO5 with CDC20 (PubMed:15526037). Nucleus Cytoplasm Cytoplasm, cytoskeleton, spindle Note=In interphase, localizes in a punctate manner in the nucleus and cytoplasm with some perinuclear concentration. In mitotic cells, localizes throughout the cell, particularly at the spindle. Expressed in oocytes and granulosa cells (PubMed:15526037, PubMed:17190794). Expressed in proliferating cells compartments in hair follicle and skin epidermis, spermatogonia, and intestinal crypts (PubMed:17875940). Detected at the germinal vesicle (GV) stage. During maturation, decreases to barely detectable levels in meiosis I- and meiosis II-stage oocytes. Phosphorylation by CDK2 and subsequently by PLK1 triggers degradation during early mitosis through ubiquitin-mediated proteolysis by the SCF ubiquitin ligase complex containing the F-box protein BTRC. This degradation is necessary for the activation of APC in late mitosis and subsequent mitotic progression (By similarity). Phosphorylated by RPS6KA2; increases and stabilizes interaction with CDC20 (PubMed:15526037). Ubiquitinated by the SCF(BTRC) complex following phosphorylation by PLK1. Undergoes both 'Lys-11' and 'Lys-48'-linked polyubiquitination by APC-FZR1 complex leading to degradation during G1 phase by the proteasome (By similarity). Degraded through the SCF(BTRC) complex; degradation occurs during oocyte maturation, between germinal vesicle breakdown (GVBD) and meiosis I, and is required for the meiosis I- meiosis II transition (PubMed:17190794). Death at the preimplantation stage. Embryos display normal cell proliferation but mitotic progression is severely defective during embryonic cleavage with multipolar spindles and misaligned chromosomes frequently observed. oocyte maturation protein binding nucleus nucleoplasm cytoplasm spindle cytoskeleton regulation of DNA replication cell cycle spindle assembly involved in female meiosis I regulation of mitotic cell cycle positive regulation of cell proliferation positive regulation of G2/M transition of mitotic cell cycle anaphase-promoting complex binding vesicle organization protein ubiquitination protein kinase binding negative regulation of DNA endoreduplication regulation of meiotic nuclear division positive regulation of osteoblast differentiation negative regulation of meiotic nuclear division negative regulation of mitotic metaphase/anaphase transition microtubule polymerization metal ion binding spindle assembly cell division negative regulation of ubiquitin-protein transferase activity positive regulation of meiosis I positive regulation of biomineral tissue development meiotic spindle negative regulation of ubiquitin protein ligase activity positive regulation of mesenchymal stem cell migration ubiquitin ligase inhibitor activity negative regulation of cellular senescence negative regulation of response to DNA damage stimulus uc007egj.1 uc007egj.2 uc007egj.3 
ENSMUST00000019908.9 Mtrf1l ENSMUST00000019908.9 mitochondrial translational release factor 1-like (from RefSeq NM_175374.3) ENSMUST00000019908.1 ENSMUST00000019908.2 ENSMUST00000019908.3 ENSMUST00000019908.4 ENSMUST00000019908.5 ENSMUST00000019908.6 ENSMUST00000019908.7 ENSMUST00000019908.8 NM_175374 Q8BJU9 RF1ML_MOUSE uc007egi.1 uc007egi.2 uc007egi.3 Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain termination codons UAA and UAG. Mitochondrion The GGQ domain interacts with the peptidyltransferase center (PTC) of the large ribosomal subunit to trigger nascent chain hydrolysis. Methylation of glutamine in the GGQ triplet by HEMK1 is conserved from bacteria to mammals. Belongs to the prokaryotic/mitochondrial release factor family. translation release factor activity mitochondrion translation translational termination translation release factor activity, codon specific ribosome binding mitochondrial translational termination uc007egi.1 uc007egi.2 uc007egi.3 
ENSMUST00000019911.14 Hdac2 ENSMUST00000019911.14 histone deacetylase 2 (from RefSeq NM_008229.2) A0A0R4J008 A0A0R4J008_MOUSE ENSMUST00000019911.1 ENSMUST00000019911.10 ENSMUST00000019911.11 ENSMUST00000019911.12 ENSMUST00000019911.13 ENSMUST00000019911.2 ENSMUST00000019911.3 ENSMUST00000019911.4 ENSMUST00000019911.5 ENSMUST00000019911.6 ENSMUST00000019911.7 ENSMUST00000019911.8 ENSMUST00000019911.9 Hdac2 NM_008229 uc007evf.1 uc007evf.2 uc007evf.3 Histone deacetylase that catalyzes the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Reaction=H2O + N(6)-(2E)-butenoyl-L-lysyl-[protein] = (2E)-2-butenoate + L-lysyl-[protein]; Xref=Rhea:RHEA:69172, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:13707, ChEBI:CHEBI:15377, ChEBI:CHEBI:29969, ChEBI:CHEBI:35899, ChEBI:CHEBI:137954; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:69173; Evidence=; Reaction=H2O + N(6)-acetyl-L-lysyl-[histone] = acetate + L-lysyl- [histone]; Xref=Rhea:RHEA:58196, Rhea:RHEA-COMP:9845, Rhea:RHEA- COMP:11338, ChEBI:CHEBI:15377, ChEBI:CHEBI:29969, ChEBI:CHEBI:30089, ChEBI:CHEBI:61930; EC=3.5.1.98; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:58197; Evidence=; Reaction=H2O + N(6)-acetyl-L-lysyl-[protein] = acetate + L-lysyl- [protein]; Xref=Rhea:RHEA:58108, Rhea:RHEA-COMP:9752, Rhea:RHEA- COMP:10731, ChEBI:CHEBI:15377, ChEBI:CHEBI:29969, ChEBI:CHEBI:30089, ChEBI:CHEBI:61930; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:58109; Evidence=; Nucleus Belongs to the histone deacetylase family. HD Type 1 subfamily. negative regulation of transcription from RNA polymerase II promoter chromatin RNA polymerase II repressing transcription factor binding response to amphetamine cardiac muscle hypertrophy histone deacetylase activity nucleus cytoplasm chromatin organization maintenance of chromatin silencing transcription factor binding positive regulation of cell proliferation positive regulation of epithelial to mesenchymal transition positive regulation of receptor biosynthetic process negative regulation of neuron projection development histone deacetylation Sin3 complex NuRD complex hydrolase activity deacetylase activity enzyme binding response to caffeine heat shock protein binding NAD-dependent histone deacetylase activity (H3-K14 specific) response to lipopolysaccharide positive regulation of interleukin-1 production positive regulation of tumor necrosis factor production macromolecular complex protein deacetylase activity cellular response to heat response to nicotine ESC/E(Z) complex response to cocaine response to drug positive regulation of tyrosine phosphorylation of STAT protein histone deacetylase binding negative regulation of DNA binding negative regulation of sequence-specific DNA binding transcription factor activity sequence-specific DNA binding positive regulation of proteolysis negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding behavioral response to ethanol positive regulation of oligodendrocyte differentiation NF-kappaB binding response to hyperoxia negative regulation of dendritic spine development cellular response to hydrogen peroxide histone H3 deacetylation cellular response to retinoic acid cellular response to transforming growth factor beta stimulus positive regulation of male mating behavior cellular response to dopamine promoter-specific chromatin binding negative regulation of peptidyl-lysine acetylation uc007evf.1 uc007evf.2 uc007evf.3 
ENSMUST00000019913.15 Frk ENSMUST00000019913.15 fyn-related kinase, transcript variant 2 (from RefSeq NM_010237.3) Bsk ENSMUST00000019913.1 ENSMUST00000019913.10 ENSMUST00000019913.11 ENSMUST00000019913.12 ENSMUST00000019913.13 ENSMUST00000019913.14 ENSMUST00000019913.2 ENSMUST00000019913.3 ENSMUST00000019913.4 ENSMUST00000019913.5 ENSMUST00000019913.6 ENSMUST00000019913.7 ENSMUST00000019913.8 ENSMUST00000019913.9 FRK_MOUSE Iyk NM_010237 Q61364 Q61745 Q922K9 uc007euy.1 uc007euy.2 uc007euy.3 uc007euy.4 uc007euy.5 Non-receptor tyrosine-protein kinase that negatively regulates cell proliferation. Positively regulates PTEN protein stability through phosphorylation of PTEN on 'Tyr-336', which in turn prevents its ubiquitination and degradation, possibly by reducing its binding to NEDD4. May function as a tumor suppressor (By similarity). Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.2; Evidence=; Interacts (via the SH3-domain) with PTEN. Interacts with RB1 (By similarity). Cytoplasm Nucleus Note=Predominantly found in the nucleus, with a small fraction found in the cell periphery. Expressed in intestinal tract, fetal and adult islets of Langerhans, kidney, liver and lung. Mice are viable and do not show any histological abnormalities in epithelial tissues or develop any pathological and/or metabolic disorders associated with the failure of epithelial organs. Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily. negative regulation of transcription from RNA polymerase II promoter nucleotide binding protein kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity receptor binding ATP binding nucleus cytoplasm cytosol plasma membrane protein phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway kinase activity phosphorylation transferase activity cell differentiation extrinsic component of cytoplasmic side of plasma membrane peptidyl-tyrosine autophosphorylation regulation of cell proliferation uc007euy.1 uc007euy.2 uc007euy.3 uc007euy.4 uc007euy.5 
ENSMUST00000019917.6 Rwdd1 ENSMUST00000019917.6 RWD domain containing 1 (from RefSeq NM_025614.3) Dfrp2 ENSMUST00000019917.1 ENSMUST00000019917.2 ENSMUST00000019917.3 ENSMUST00000019917.4 ENSMUST00000019917.5 NM_025614 Q9CQK7 RWDD1_MOUSE uc007eun.1 uc007eun.2 uc007eun.3 Protects DRG2 from proteolytic degradation. Interacts with androgen receptor (By similarity). Interacts with DRG2. Belongs to the RWDD1/GIR2 family. cytoplasmic translation molecular_function cytoplasm polysome cell aging androgen receptor signaling pathway cellular response to oxidative stress cellular response to testosterone stimulus positive regulation of androgen receptor activity uc007eun.1 uc007eun.2 uc007eun.3 
ENSMUST00000019920.13 Clvs2 ENSMUST00000019920.13 clavesin 2, transcript variant 1 (from RefSeq NM_175448.4) CLVS2_MOUSE ENSMUST00000019920.1 ENSMUST00000019920.10 ENSMUST00000019920.11 ENSMUST00000019920.12 ENSMUST00000019920.2 ENSMUST00000019920.3 ENSMUST00000019920.4 ENSMUST00000019920.5 ENSMUST00000019920.6 ENSMUST00000019920.7 ENSMUST00000019920.8 ENSMUST00000019920.9 NM_175448 Q8BG92 Q8BKA5 Rlbp1l2 uc007eue.1 uc007eue.2 uc007eue.3 Required for normal morphology of late endosomes and/or lysosomes in neurons. Binds phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (By similarity). Forms a complex with clathrin heavy chain and gamma-adaptin. Golgi apparatus, trans-Golgi network membrane ; Peripheral membrane protein Early endosome membrane ; Peripheral membrane protein Cytoplasmic vesicle, clathrin-coated vesicle Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BG92-1; Sequence=Displayed; Name=2; IsoId=Q8BG92-2; Sequence=VSP_027326, VSP_027327; The CRAL-TRIO domain is required for targeting to the membrane and for binding PtdIns(3,5)P2. Binding to PtdIns(3,5)P2 is not required for localization. endosome Golgi apparatus trans-Golgi network lysosome organization lipid binding membrane clathrin-coated vesicle cytoplasmic vesicle early endosome membrane phosphatidylinositol-3,5-bisphosphate binding uc007eue.1 uc007eue.2 uc007eue.3 
ENSMUST00000019924.9 Hey2 ENSMUST00000019924.9 hairy/enhancer-of-split related with YRPW motif 2 (from RefSeq NM_013904.1) Chf1 ENSMUST00000019924.1 ENSMUST00000019924.2 ENSMUST00000019924.3 ENSMUST00000019924.4 ENSMUST00000019924.5 ENSMUST00000019924.6 ENSMUST00000019924.7 ENSMUST00000019924.8 HEY2_MOUSE Herp Herp1 Hesr2 Hrt2 NM_013904 Q3TZ99 Q8CD44 Q9QUS4 uc007etp.1 uc007etp.2 uc007etp.3 Transcriptional repressor which functions as a downstream effector of Notch signaling in cardiovascular development. Specifically required for the Notch-induced endocardial epithelial to mesenchymal transition, which is itself criticial for cardiac valve and septum development. May be required in conjunction with HEY1 to specify arterial cell fate or identity. Promotes maintenance of neuronal precursor cells and glial versus neuronal fate specification. Binds preferentially to the canonical E box sequence 5'-CACGTG-3'. Represses transcription by the cardiac transcriptional activators GATA4 and GATA6 and by the neuronal bHLH factors ASCL1/MASH1 and NEUROD4/MATH3. May self-associate (By similarity). Interacts with ARNT (By similarity). Interacts with GATA4, GATA6, HES1 and HEYL. Interacts with HDAC1, NCOR1 and SIN3A. Nucleus Highly expressed in the aorta, lower expression detected in the heart, brain, kidney, lung, muscle, ovary and testis. Expressed in the developing somites and the ventricles of the heart. Expressed in the otic vesicles between 8.5 dpc and 10.5 dpc. Expressed in the myocardium of the ventricles at 9.5 dpc and in the atrioventricular cushions from 9.5 to 12.5 dpc. At 10.5 dpc, strongly expressed in the spinal nerves, the cranial ganglia and the telencephalon. At 11.5 dpc, expressed in the craniofacial region of the distal part of the maxillary arch, along the rostral mandibular arch and surrounding the lateral nasal processes. Expressed in the midbrain- hindbrain boundary and the posterior edge of the hand- and foot-paddle. Expressed in the mediodorsal region of the telencephalon and the ventricular zone of the ventral spinal cord at 12 dpc, then in the ventral region of the telencephalon and the cortical plate at 15 dpc. Expression in the heart is limited to the compact myocardial layer at 17.5 dpc. Also expressed in the developing retina up to P5, at which point expression decreases. By activation of the Notch signaling pathway. Mice display a spectrum of cardiac malformations including ventricular septal defects, tetralogy of Fallot and tricuspid atresia. The penetrance of the cardiac malformation phenotype varies according to the strain, suggesting the presence of modifier genes. Belongs to the HEY family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding blood vessel development vasculogenesis muscular septum morphogenesis outflow tract morphogenesis atrioventricular valve development pulmonary valve morphogenesis tricuspid valve morphogenesis tricuspid valve formation endocardial cushion to mesenchymal transition involved in heart valve formation cardiac ventricle morphogenesis cardiac left ventricle morphogenesis cardiac right ventricle morphogenesis ventricular trabecula myocardium morphogenesis cardiac muscle hypertrophy DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter Notch signaling pathway multicellular organism development pattern specification process heart development transcription factor binding anterior/posterior axis specification anterior/posterior pattern specification positive regulation of heart rate regulation of gene expression positive regulation of gene expression negative regulation of gene expression negative regulation of cardiac muscle cell apoptotic process mesenchymal cell development cardiac muscle hypertrophy in response to stress Sin3 complex transcriptional repressor complex cell differentiation ascending aorta morphogenesis dorsal aorta morphogenesis umbilical cord morphogenesis protein homodimerization activity histone deacetylase binding sequence-specific DNA binding cell fate commitment regulation of auditory receptor cell differentiation negative regulation of Notch signaling pathway negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein dimerization activity regulation of neurogenesis ventricular cardiac muscle cell development positive regulation of cardiac muscle cell proliferation cardiac epithelial to mesenchymal transition heart trabecula formation cardiac septum morphogenesis ventricular septum morphogenesis atrial septum morphogenesis negative regulation of transcription initiation from RNA polymerase II promoter labyrinthine layer blood vessel development artery development arterial endothelial cell differentiation cardiac vascular smooth muscle cell development coronary vasculature morphogenesis pulmonary artery morphogenesis Notch signaling involved in heart development protein-DNA complex assembly negative regulation of biomineral tissue development circulatory system development cochlea development vascular smooth muscle cell development negative regulation of transcription regulatory region DNA binding negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation regulation of vasculogenesis uc007etp.1 uc007etp.2 uc007etp.3 
ENSMUST00000019927.7 Trmt11 ENSMUST00000019927.7 tRNA methyltransferase 11, transcript variant 1 (from RefSeq NM_028604.3) E9QKG3 E9QKG3_MOUSE ENSMUST00000019927.1 ENSMUST00000019927.2 ENSMUST00000019927.3 ENSMUST00000019927.4 ENSMUST00000019927.5 ENSMUST00000019927.6 NM_028604 Trmt11 uc007ete.1 uc007ete.2 Catalytic subunit of an S-adenosyl-L-methionine-dependent tRNA methyltransferase complex that mediates the methylation of the guanosine nucleotide at position 10 (m2G10) in tRNAs. Interacts with TRMT112. nucleic acid binding methyltransferase activity methylation uc007ete.1 uc007ete.2 
ENSMUST00000019931.12 Lrp11 ENSMUST00000019931.12 low density lipoprotein receptor-related protein 11, transcript variant 1 (from RefSeq NM_172784.4) ENSMUST00000019931.1 ENSMUST00000019931.10 ENSMUST00000019931.11 ENSMUST00000019931.2 ENSMUST00000019931.3 ENSMUST00000019931.4 ENSMUST00000019931.5 ENSMUST00000019931.6 ENSMUST00000019931.7 ENSMUST00000019931.8 ENSMUST00000019931.9 LRP11_MOUSE NM_172784 Q8C7Y7 Q8CB67 uc007ehw.1 uc007ehw.2 uc007ehw.3 uc007ehw.4 uc007ehw.5 Membrane ; Single-pass type I membrane protein Belongs to the LDLR family. cellular_component endocytosis response to heat response to cold response to water deprivation response to mechanical stimulus membrane integral component of membrane multicellular organismal response to stress response to immobilization stress response to starvation phosphoprotein binding uc007ehw.1 uc007ehw.2 uc007ehw.3 uc007ehw.4 uc007ehw.5 
ENSMUST00000019937.5 Sec63 ENSMUST00000019937.5 SEC63 homolog, protein translocation regulator, transcript variant 1 (from RefSeq NM_153055.3) E9QKG1 ENSMUST00000019937.1 ENSMUST00000019937.2 ENSMUST00000019937.3 ENSMUST00000019937.4 NM_153055 Q8VEB9 Q8VHE0 SEC63_MOUSE Sec63l uc007eyx.1 uc007eyx.2 uc007eyx.3 Mediates cotranslational and post-translational transport of certain precursor polypeptides across endoplasmic reticulum (ER) (PubMed:22375059). Proposed to play an auxiliary role in recognition of precursors with short and apolar signal peptides. May cooperate with SEC62 and HSPA5/BiP to facilitate targeting of small presecretory proteins into the SEC61 channel-forming translocon complex, triggering channel opening for polypeptide translocation to the ER lumen (By similarity). Required for efficient PKD1/Polycystin-1 biogenesis and trafficking to the plasma membrane of the primary cilia (PubMed:21685914). The ER translocon complex consists of channel-forming core components SEC61A1, SEC61B and SEC61G and different auxiliary components such as SEC62 and SEC63. Endoplasmic reticulum membrane; Multi-pass membrane protein. Expressed in kidney (at protein level). Knockout mice exhibit very early embryonic lethality before E7.5. Conditional ubiquitous or kidney-specific knockdown results in polycystic liver and kidney phenotypes, respectively. liver development endoplasmic reticulum endoplasmic reticulum membrane SRP-dependent cotranslational protein targeting to membrane posttranslational protein targeting to membrane nitrogen compound metabolic process multicellular organism aging protein transport membrane integral component of membrane posttranslational protein targeting to membrane, translocation Sec62/Sec63 complex uc007eyx.1 uc007eyx.2 uc007eyx.3 
ENSMUST00000019938.11 Nr2e1 ENSMUST00000019938.11 nuclear receptor subfamily 2, group E, member 1 (from RefSeq NM_152229.3) ENSMUST00000019938.1 ENSMUST00000019938.10 ENSMUST00000019938.2 ENSMUST00000019938.3 ENSMUST00000019938.4 ENSMUST00000019938.5 ENSMUST00000019938.6 ENSMUST00000019938.7 ENSMUST00000019938.8 ENSMUST00000019938.9 NM_152229 Nr2e1 Q78ZM1 Q78ZM1_MOUSE uc007eyt.1 uc007eyt.2 uc007eyt.3 Nucleus Belongs to the nuclear hormone receptor family. NR2 subfamily. DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity nucleus regulation of transcription, DNA-templated zinc ion binding steroid hormone mediated signaling pathway sequence-specific DNA binding metal ion binding uc007eyt.1 uc007eyt.2 uc007eyt.3 
ENSMUST00000019939.12 Snx3 ENSMUST00000019939.12 sorting nexin 3 (from RefSeq NM_017472.4) ENSMUST00000019939.1 ENSMUST00000019939.10 ENSMUST00000019939.11 ENSMUST00000019939.2 ENSMUST00000019939.3 ENSMUST00000019939.4 ENSMUST00000019939.5 ENSMUST00000019939.6 ENSMUST00000019939.7 ENSMUST00000019939.8 ENSMUST00000019939.9 NM_017472 Q78ZM0 Q78ZM0_MOUSE Snx3 uc007eyr.1 uc007eyr.2 uc007eyr.3 uc007eyr.4 Cytoplasmic vesicle, phagosome Endosome Belongs to the sorting nexin family. cytoplasm early endosome cytosol response to bacterium endosome membrane membrane invagination protein phosphatase binding protein to membrane docking regulation of Wnt signaling pathway clathrin-coated vesicle retromer complex early endosome membrane early phagosome phosphatidylinositol-3-phosphate binding phosphatidylinositol binding negative regulation of protein catabolic process negative regulation of viral entry into host cell negative regulation of phagocytosis negative regulation of protein transport intralumenal vesicle formation phosphatidylinositol phosphate binding negative regulation of early endosome to late endosome transport uc007eyr.1 uc007eyr.2 uc007eyr.3 uc007eyr.4 
ENSMUST00000019944.9 Adat2 ENSMUST00000019944.9 adenosine deaminase, tRNA-specific 2 (from RefSeq NM_025748.4) ADAT2_MOUSE Deadc1 ENSMUST00000019944.1 ENSMUST00000019944.2 ENSMUST00000019944.3 ENSMUST00000019944.4 ENSMUST00000019944.5 ENSMUST00000019944.6 ENSMUST00000019944.7 ENSMUST00000019944.8 NM_025748 Q6P6J0 Q9CX14 uc007ela.1 uc007ela.2 uc007ela.3 uc007ela.4 Probably participates in deamination of adenosine-34 to inosine in many tRNAs. Reaction=adenosine(34) in tRNA + H(+) + H2O = inosine(34) in tRNA + NH4(+); Xref=Rhea:RHEA:43168, Rhea:RHEA-COMP:10373, Rhea:RHEA- COMP:10374, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28938, ChEBI:CHEBI:74411, ChEBI:CHEBI:82852; EC=3.5.4.33; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Belongs to the cytidine and deoxycytidylate deaminase family. ADAT2 subfamily. tRNA wobble adenosine to inosine editing catalytic activity tRNA processing tRNA-specific adenosine deaminase activity zinc ion binding hydrolase activity metal ion binding tRNA-specific adenosine-34 deaminase activity tRNA-specific adenosine-34 deaminase complex uc007ela.1 uc007ela.2 uc007ela.3 uc007ela.4 
ENSMUST00000019945.15 Pex3 ENSMUST00000019945.15 peroxisomal biogenesis factor 3, transcript variant 1 (from RefSeq NM_019961.3) ENSMUST00000019945.1 ENSMUST00000019945.10 ENSMUST00000019945.11 ENSMUST00000019945.12 ENSMUST00000019945.13 ENSMUST00000019945.14 ENSMUST00000019945.2 ENSMUST00000019945.3 ENSMUST00000019945.4 ENSMUST00000019945.5 ENSMUST00000019945.6 ENSMUST00000019945.7 ENSMUST00000019945.8 ENSMUST00000019945.9 NM_019961 PEX3_MOUSE Q9QXY9 uc007eky.1 uc007eky.2 uc007eky.3 uc007eky.4 Involved in peroxisome biosynthesis and integrity. Assembles membrane vesicles before the matrix proteins are translocated. As a docking factor for PEX19, is necessary for the import of peroxisomal membrane proteins in the peroxisomes. Interacts with PEX19. Peroxisome membrane ; Multi-pass membrane protein Identified in all tissues analyzed, with the strongest expression in liver and in testis. Belongs to the peroxin-3 family. nucleoplasm peroxisome peroxisomal membrane integral component of peroxisomal membrane endoplasmic reticulum cytosol integral component of plasma membrane peroxisome organization lipid binding membrane integral component of membrane peroxisome membrane biogenesis protein binding, bridging macromolecular complex protein-lipid complex protein import into peroxisome membrane protein dimerization activity uc007eky.1 uc007eky.2 uc007eky.3 uc007eky.4 
ENSMUST00000019950.6 Ltv1 ENSMUST00000019950.6 LTV1 ribosome biogenesis factor (from RefSeq NM_181470.4) ENSMUST00000019950.1 ENSMUST00000019950.2 ENSMUST00000019950.3 ENSMUST00000019950.4 ENSMUST00000019950.5 LTV1_MOUSE NM_181470 Q6NSQ7 Q9D0F5 uc007ekp.1 uc007ekp.2 uc007ekp.3 uc007ekp.4 Essential for ribosome biogenesis. Belongs to the LTV1 family. ribosomal small subunit export from nucleus nucleus nucleoplasm cytosol preribosome, small subunit precursor late endosome membrane EGO complex ribosomal small subunit biogenesis uc007ekp.1 uc007ekp.2 uc007ekp.3 uc007ekp.4 
ENSMUST00000019954.6 Zc2hc1b ENSMUST00000019954.6 zinc finger, C2HC-type containing 1B (from RefSeq NM_029172.1) B9EHC9 B9EHC9_MOUSE ENSMUST00000019954.1 ENSMUST00000019954.2 ENSMUST00000019954.3 ENSMUST00000019954.4 ENSMUST00000019954.5 Fam164b NM_029172 Zc2hc1b uc007eko.1 uc007eko.2 uc007eko.3 uc007eko.4 uc007eko.1 uc007eko.2 uc007eko.3 uc007eko.4 
ENSMUST00000019962.15 Cd164 ENSMUST00000019962.15 CD164 antigen (from RefSeq NM_016898.2) ENSMUST00000019962.1 ENSMUST00000019962.10 ENSMUST00000019962.11 ENSMUST00000019962.12 ENSMUST00000019962.13 ENSMUST00000019962.14 ENSMUST00000019962.2 ENSMUST00000019962.3 ENSMUST00000019962.4 ENSMUST00000019962.5 ENSMUST00000019962.6 ENSMUST00000019962.7 ENSMUST00000019962.8 ENSMUST00000019962.9 MUC24_MOUSE NM_016898 Q3UM47 Q9R0L9 Q9Z317 uc007exv.1 uc007exv.2 uc007exv.3 Sialomucin that may play a key role in hematopoiesis. May be involved in cell adhesion (By similarity). Promotes myogenesis by enhancing CXCR4-dependent cell motility. Positively regulates myoblast migration and promotes myoblast fusion into myotubes. Interacts with CXCR4. Lysosome membrane ; Single-pass type I membrane protein Endosome membrane ; Single-pass type I membrane protein Cell membrane ; Single-pass type I membrane protein Expressed at high levels in the submaxillary gland and kidney, at moderate levels in the brain, heart, lung, liver, intestine, testis, muscle and bone marrow, and at low levels in the pancreas, spleen and thymus. In the ear, expressed in the inner and outer hair cells of the organ of Corti, cells of Kolliker's organ, cells in the lateral cochlear wall behind the spiral prominence and cells of the stria vascularis (PubMed:26197441). During embryogenesis, expression in found in all stages examined, with the highest levels of expression at early stages (8.5 dpc) and moderate levels of expression being found at mid- to late stages of embryogenesis. Expressed during early stages of skeletal muscle development. At embryonic stages 9.5 dpc and 10.5 dpc, expressed strongly in the dorsal somite (the structure of origin for skeletal muscle precursors). It is also expressed at later stages of muscle development;. Highly N- and O-glycosylated; contains sialic acid. Belongs to the CD164 family. protein binding lysosome lysosomal membrane endosome plasma membrane cell adhesion heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules muscle organ development endosome membrane membrane integral component of membrane cytoplasmic vesicle uc007exv.1 uc007exv.2 uc007exv.3 
ENSMUST00000019965.13 Smpd2 ENSMUST00000019965.13 sphingomyelin phosphodiesterase 2, neutral (from RefSeq NM_009213.2) ENSMUST00000019965.1 ENSMUST00000019965.10 ENSMUST00000019965.11 ENSMUST00000019965.12 ENSMUST00000019965.2 ENSMUST00000019965.3 ENSMUST00000019965.4 ENSMUST00000019965.5 ENSMUST00000019965.6 ENSMUST00000019965.7 ENSMUST00000019965.8 ENSMUST00000019965.9 NM_009213 NSMA_MOUSE O70572 Smpd2 uc007ext.1 uc007ext.2 uc007ext.3 This gene encodes a protein with similarity to the human nSMase1 protein. In humans, the nSMase1 protein was initially identified as a sphingomyelinase based on sequence similarity between bacterial sphingomyelinases and a yeast protein. Subsequent studies showed that its biological function is less likely to be as a sphingomyelinase and instead as a lysophospholipase. [provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC010978.1, AJ222800.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164134 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Catalyzes, at least in vitro, the hydrolysis of sphingomyelin to form ceramide and phosphocholine (PubMed:9520418). Also hydrolyzes 1-O-alkyl-2-lyso-sn-glycero-3-phosphocholine (lyso-platelet-activating factor) in vivo (By similarity). Also acts on 1-acyl-2-lyso-sn-glycero- 3-phosphocholine (lyso-PC) and sphingosylphosphocholine (By similarity). Reaction=a sphingomyelin + H2O = an N-acylsphing-4-enine + H(+) + phosphocholine; Xref=Rhea:RHEA:19253, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17636, ChEBI:CHEBI:52639, ChEBI:CHEBI:295975; EC=3.1.4.12; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19254; Evidence=; Reaction=an N-(acyl)-sphingosylphosphocholine + H2O = an N-acyl- sphingoid base + H(+) + phosphocholine; Xref=Rhea:RHEA:45300, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:64583, ChEBI:CHEBI:83273, ChEBI:CHEBI:295975; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45301; Evidence=; Reaction=1-O-octadecyl-sn-glycero-3-phosphocholine + H2O = 1-O- octadecyl-sn-glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:39923, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:74001, ChEBI:CHEBI:75216, ChEBI:CHEBI:295975; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39924; Evidence=; Reaction=1-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = 1- hexadecanoyl-sn-glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:41119, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:72998, ChEBI:CHEBI:75542, ChEBI:CHEBI:295975; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41120; Evidence=; Reaction=a sphingosylphosphocholine + H2O = a sphingoid base + H(+) + phosphocholine; Xref=Rhea:RHEA:45296, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:84410, ChEBI:CHEBI:85171, ChEBI:CHEBI:295975; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45297; Evidence=; Reaction=1-O-hexadecyl-sn-glycero-3-phosphocholine + H2O = 1-O- hexadecyl-sn-glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:36087, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:34115, ChEBI:CHEBI:64496, ChEBI:CHEBI:295975; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36088; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Activated by arachidonic acid. Kinetic parameters: KM=15 uM for sphingomyelin (at pH 7.4 and 37 degrees Celsius) ; Vmax=10 umol/h/mg enzyme with sphingomyelin as substrate (at pH 7.4 and 37 degrees Celsius) ; pH dependence: Optimum pH is 6.5-7.5. ; Lipid metabolism; sphingolipid metabolism. Cell membrane ; Multi-pass membrane protein Although widely expressed in all tissues examined, except the spleen, high enzymatic activity occurs only in the brain. Mice lacking Smpd2 and Smpd3 are completely devoid of neutral SMase activity but do not developed sphingomyelin storage abnormalities. Belongs to the neutral sphingomyelinase family. sphingomyelin phosphodiesterase activity caveola lipid metabolic process sphingolipid metabolic process sphingomyelin metabolic process sphingomyelin catabolic process response to mechanical stimulus membrane integral component of membrane hydrolase activity intracellular signal transduction positive regulation of apoptotic process ceramide biosynthetic process metal ion binding uc007ext.1 uc007ext.2 uc007ext.3 
ENSMUST00000019967.16 Mical1 ENSMUST00000019967.16 microtubule associated monooxygenase, calponin and LIM domain containing 1, transcript variant 1 (from RefSeq NM_138315.2) D3Z4C6 E9PXR1 ENSMUST00000019967.1 ENSMUST00000019967.10 ENSMUST00000019967.11 ENSMUST00000019967.12 ENSMUST00000019967.13 ENSMUST00000019967.14 ENSMUST00000019967.15 ENSMUST00000019967.2 ENSMUST00000019967.3 ENSMUST00000019967.4 ENSMUST00000019967.5 ENSMUST00000019967.6 ENSMUST00000019967.7 ENSMUST00000019967.8 ENSMUST00000019967.9 MICA1_MOUSE Mical NM_138315 Nical Q3TB77 Q3TBH9 Q3TX89 Q8VDP3 uc007exn.1 uc007exn.2 uc007exn.3 Monooxygenase that promotes depolymerization of F-actin by mediating oxidation of specific methionine residues on actin to form methionine-sulfoxide, resulting in actin filament disassembly and preventing repolymerization. In the absence of actin, it also functions as a NADPH oxidase producing H(2)O(2) (By similarity). Acts as a cytoskeletal regulator that connects NEDD9 to intermediate filaments. Also acts as a negative regulator of apoptosis via its interaction with STK38 and STK38L; acts by antagonizing STK38 and STK38L activation by MST1/STK4. Involved in regulation of lamina-specific connectivity in the nervous system such as the development of lamina-restricted hippocampal connections. Through redox regulation of the actin cytoskeleton controls the intracellular distribution of secretory vesicles containing L1/neurofascin/NgCAM family proteins in neurons, thereby regulating their cell surface levels. May act as Rab effector protein and play a role in vesicle trafficking. Promotes endosomal tubule extension by associating with RAB8 (RAB8A or RAB8B), RAB10 and GRAF (GRAF1/ARHGAP26 or GRAF2/ARHGAP10) on the endosomal membrane which may connect GRAFs to Rabs, thereby participating in neosynthesized Rab8-Rab10-Rab11-dependent protein export (By similarity). Reaction=H(+) + L-methionyl-[F-actin] + NADPH + O2 = H2O + L-methionyl- (R)-S-oxide-[F-actin] + NADP(+); Xref=Rhea:RHEA:51308, Rhea:RHEA- COMP:12953, Rhea:RHEA-COMP:12956, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16044, ChEBI:CHEBI:45764, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.14.13.225; Evidence= Reaction=H(+) + NADPH + O2 = H2O2 + NADP(+); Xref=Rhea:RHEA:11260, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.6.3.1; Evidence=; Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Kinetic parameters: KM=9.3 uM for actin (for a monooxygenase domain construct) ; KM=28.8 uM for NADPH (for a monooxygenase domain construct) ; Associates with the SH3 domain of NEDD9. Interacts with VIM and PLXNA3. Interacts with RAB1B, RAB8A, RAB10, RAB13 and RAB15 (in their GTP-bound forms); binding to RAB1B is of low affinity compared to other Rab proteins; at least in case of RAB8A and RAB10 can bind 2 molecules of the Rab proteins simultaneously (By similarity). Interacts with STK38 and STK38L. Interacts with GRAF1/ARHGAP26, GRAF2/ARHGAP10, RAB8A, RAB8B and RAB10; may bind simultaneously to GRAFs and Rabs and connects GRAFs to Rabs (By similarity). Does not interact with RAB1 and RAB11A (By similarity). Q8VDP3; Q91VJ4: Stk38; NbExp=9; IntAct=EBI-4394891, EBI-2527046; Q8VDP3; A4GW50: Stk38l; Xeno; NbExp=2; IntAct=EBI-4394891, EBI-4404035; Cytoplasm Cytoplasm, cytoskeleton Endosome membrane Midbody Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8VDP3-1; Sequence=Displayed; Name=2; IsoId=Q8VDP3-2; Sequence=VSP_042591; Name=3; IsoId=Q8VDP3-3; Sequence=VSP_042592; Expressed in the postnatal and adult hippocampus; found in dentate gyrus, the polymorphic layer, cornu ammonis (CA) 1-3 and in mossy fibers of the striatum lucidum. In adult hippocampus strongly expressed in CA3 pyramidial neurons. The C-terminal coiled coil part contains the plexin-interacting region. The bivalent Mical/EHBP Rab binding (bMERB) domain, mediates binding to predominantly Rab8, Rab10, Rab13 and Rab15 (in their GTP- bound forms). Belongs to the Mical family. The reaction mechanism is subject to discussion. Some work suggest MICAL enzymes directly oxidize actin methionine residues to produce methionine-(R)-S-oxide. Other publications suggest that the enzyme functions as a NADPH oxidase producing H(2)O(2) (EC 1.6.3.1) and that it is the produced H(2)O(2) that is responsible for the methionine-(R)-S-oxide production. negative regulation of protein phosphorylation actin binding monooxygenase activity protein binding cytoplasm microtubule organizing center cytoskeleton NAD(P)H oxidase activity oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen SH3 domain binding Rab GTPase binding sulfur oxidation protein kinase binding actin cytoskeleton organization actin filament depolymerization midbody filamentous actin negative regulation of apoptotic process negative regulation of cysteine-type endopeptidase activity involved in apoptotic process intercellular bridge metal ion binding oxidation-reduction process FAD binding regulation of regulated secretory pathway hippocampal mossy fiber expansion uc007exn.1 uc007exn.2 uc007exn.3 
ENSMUST00000019974.5 Rab32 ENSMUST00000019974.5 RAB32, member RAS oncogene family (from RefSeq NM_026405.3) ENSMUST00000019974.1 ENSMUST00000019974.2 ENSMUST00000019974.3 ENSMUST00000019974.4 NM_026405 Q3TXU7 Q8BVD3 Q91YN4 Q9CZE3 RAB32_MOUSE uc007ejg.1 uc007ejg.2 uc007ejg.3 Acts as an A-kinase anchoring protein by binding to the type II regulatory subunit of protein kinase A and anchoring it to the mitochondrion. Also involved in synchronization of mitochondrial fission. Plays a role in the maturation of phagosomes that engulf pathogens, such as S.aureus and Mycobacterium (By similarity). Plays an important role in the control of melanin production and melanosome biogenesis (By similarity). In concert with RAB38, regulates the proper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 to melanosomes in melanocytes (PubMed:26620560). Regulated by a guanine nucleotide-exchange factor (GEF) and a GTPase-activating protein (GAP) and alternates between an inactive GDP-bound and an active GTP-bound form. The BLOC-3 complex composed of HPS1 and HPS4 acts as its GEF, promotes the exchange of GDP to GTP, converting it from an inactive GDP-bound form into an active GTP-bound form. SGSM2 acts as its GAP and inactivates it by stimulating its GTPase activity (PubMed:26620560). Interacts with ANKRD27 (PubMed:19403694, PubMed:21187289). A decreased interaction with ANKRD27 seen in the presence of SGSM2 (By similarity). Mitochondrion Mitochondrion outer membrane ; Lipid-anchor Cytoplasmic vesicle, phagosome Cytoplasmic vesicle, phagosome membrane ; Lipid-anchor ; Cytoplasmic side Melanosome Melanosome membrane Note=Recruited to phagosomes containing S.aureus or M.tuberculosis. The BLOC-3 complex, a heterodimer of HPS1 and HPS4 promotes its membrane localization. Widely expressed with highest levels in liver. Strong expression also found in melanocyte, platelet, mast cell and fibroblast cell lines. In the embryo, highest levels occur at day 7. Belongs to the small GTPase superfamily. Rab family. nucleotide binding GTPase activity protein binding GTP binding mitochondrion mitochondrial outer membrane early endosome endoplasmic reticulum Golgi apparatus trans-Golgi network intracellular protein transport mitochondrion organization membrane vesicle-mediated transport antigen processing and presentation phagocytic vesicle membrane GTP-dependent protein binding cytoplasmic vesicle vesicle Rab protein signal transduction melanosome membrane endosome to melanosome transport AP-1 adaptor complex binding AP-3 adaptor complex binding BLOC-2 complex binding melanosome ER-mitochondrion membrane contact site phagocytic vesicle protein localization to membrane phagosome maturation melanosome assembly uc007ejg.1 uc007ejg.2 uc007ejg.3 
ENSMUST00000019975.14 Wasf1 ENSMUST00000019975.14 WASP family, member 1, transcript variant 1 (from RefSeq NM_031877.3) ENSMUST00000019975.1 ENSMUST00000019975.10 ENSMUST00000019975.11 ENSMUST00000019975.12 ENSMUST00000019975.13 ENSMUST00000019975.2 ENSMUST00000019975.3 ENSMUST00000019975.4 ENSMUST00000019975.5 ENSMUST00000019975.6 ENSMUST00000019975.7 ENSMUST00000019975.8 ENSMUST00000019975.9 NM_031877 Q8R5H6 Q91W51 Q9ERQ9 WASF1_MOUSE Wave1 uc007exi.1 uc007exi.2 uc007exi.3 uc007exi.4 Downstream effector molecule involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Promotes formation of actin filaments. Part of the WAVE complex that regulates lamellipodia formation. The WAVE complex regulates actin filament reorganization via its interaction with the Arp2/3 complex (By similarity). As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (PubMed:27605705). Also involved in the regulation of mitochondrial dynamics (By similarity). Component of the WAVE1 complex composed of ABI2, CYFIP1 or CYFIP2, BRK1, NCKAP1 and WASF1/WAVE1. Within the complex, a heterodimer containing NCKAP1 and CYFIP1 interacts with a heterotrimer formed by WAVE1, ABI2 and BRK1. CYFIP2 binds to activated RAC1 which causes the complex to dissociate, releasing activated WASF1. The complex can also be activated by NCK1. Binds actin and the Arp2/3 complex. Interacts with BAIAP2. Interacts with SHANK3; the interaction mediates the association of SHANK3 with the WAVE1 complex. Interacts with ABI1 (via N-terminus). Interacts with SORBS2; this interaction greatly enhances phosphorylation by ABL1 and dephosphorylation by PTPN12 and might mediate partial to focal adhesion sites (By similarity). Q8R5H6; Q80TE2: Pcdh10; NbExp=3; IntAct=EBI-774719, EBI-6661550; Q8R5H6; P26450: Pik3r1; NbExp=2; IntAct=EBI-774719, EBI-641764; Cytoplasm, cytoskeleton Synapse Cell junction, focal adhesion Note=Dot- like pattern in the cytoplasm. Concentrated in Rac-regulated membrane- ruffling areas. Partial translocation to focal adhesion sites might be mediated by interaction with SORBS2. In neurons, colocalizes with activated NTRK2 after BDNF addition in endocytic sites through the association with TMEM108 (PubMed:27605705). Highly expressed in brain. Binds the Arp2/3 complex through the C-terminal region and actin through verprolin homology (VPH) domain. Belongs to the SCAR/WAVE family. actin binding protein binding cytoplasm mitochondrion mitochondrial outer membrane cytoskeleton focal adhesion receptor-mediated endocytosis Rac protein signal transduction lamellipodium actin cytoskeleton organization cell junction neuron projection development SCAR complex dendrite cytoplasm macromolecular complex synapse Rac GTPase binding protein kinase A binding positive regulation of neurotrophin TRK receptor signaling pathway lamellipodium morphogenesis dendrite extension postsynapse modification of postsynaptic actin cytoskeleton dendritic transport of mitochondrion cellular response to brain-derived neurotrophic factor stimulus positive regulation of Arp2/3 complex-mediated actin nucleation uc007exi.1 uc007exi.2 uc007exi.3 uc007exi.4 
ENSMUST00000019977.8 Ddo ENSMUST00000019977.8 D-aspartate oxidase, transcript variant 1 (from RefSeq NM_027442.6) ENSMUST00000019977.1 ENSMUST00000019977.2 ENSMUST00000019977.3 ENSMUST00000019977.4 ENSMUST00000019977.5 ENSMUST00000019977.6 ENSMUST00000019977.7 NM_027442 OXDD_MOUSE Q3TT69 Q8R2R2 Q922Z0 uc007exa.1 uc007exa.2 uc007exa.3 Selectively catalyzes the oxidative deamination of D- aspartate and its N-methylated derivative, N-methyl D-aspartate. Reaction=D-aspartate + H2O + O2 = H2O2 + NH4(+) + oxaloacetate; Xref=Rhea:RHEA:12512, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:16452, ChEBI:CHEBI:28938, ChEBI:CHEBI:29990; EC=1.4.3.1; Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Name=6-hydroxy-FAD; Xref=ChEBI:CHEBI:60470; Evidence=; Peroxisome Belongs to the DAMOX/DASOX family. D-amino-acid oxidase activity peroxisome cytosol aspartate metabolic process aspartate catabolic process insemination grooming behavior D-aspartate oxidase activity oxidoreductase activity D-amino acid catabolic process hormone metabolic process D-amino acid metabolic process cofactor binding oxidation-reduction process FAD binding uc007exa.1 uc007exa.2 uc007exa.3 
ENSMUST00000019982.9 Gtf3c6 ENSMUST00000019982.9 general transcription factor IIIC, polypeptide 6, alpha, transcript variant 1 (from RefSeq NM_001359491.1) ENSMUST00000019982.1 ENSMUST00000019982.2 ENSMUST00000019982.3 ENSMUST00000019982.4 ENSMUST00000019982.5 ENSMUST00000019982.6 ENSMUST00000019982.7 ENSMUST00000019982.8 Gtf3c6 NM_001359491 Q9DB36 Q9DB36_MOUSE uc007ewq.1 uc007ewq.2 uc007ewq.3 uc007ewq.1 uc007ewq.2 uc007ewq.3 
ENSMUST00000019986.13 Rev3l ENSMUST00000019986.13 REV3 like, DNA directed polymerase zeta catalytic subunit (from RefSeq NM_011264.3) E9Q1X0 ENSMUST00000019986.1 ENSMUST00000019986.10 ENSMUST00000019986.11 ENSMUST00000019986.12 ENSMUST00000019986.2 ENSMUST00000019986.3 ENSMUST00000019986.4 ENSMUST00000019986.5 ENSMUST00000019986.6 ENSMUST00000019986.7 ENSMUST00000019986.8 ENSMUST00000019986.9 NM_011264 Polz Q61493 Q9JMD6 Q9QWX6 REV3L_MOUSE Sez4 uc007ewd.1 uc007ewd.2 uc007ewd.3 uc007ewd.4 Catalytic subunit of the DNA polymerase zeta complex, an error-prone polymerase specialized in translesion DNA synthesis (TLS). Lacks an intrinsic 3'-5' exonuclease activity and thus has no proofreading function. Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1); Xref=Rhea:RHEA:22508, Rhea:RHEA-COMP:17339, Rhea:RHEA-COMP:17340, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:173112; EC=2.7.7.7; Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Evidence=; Note=Binds 1 [4Fe-4S] cluster. ; Heterodimer with MAD2L2. This dimer forms the minimal DNA polymerase zeta complex (Pol-zeta2), with REV3L bearing DNA polymerase catalytic activity, although its activity is very low in this context. Component of the tetrameric Pol-zeta complex (Pol-zeta4), which consists of REV3L, MAD2L2, POLD2 and POLD3; Pol-zeta4 is the fully active form of DNA polymerase zeta. Nucleus The CysB motif binds 1 4Fe-4S cluster and is required for the formation of polymerase complexes. Belongs to the DNA polymerase type-B family. nucleotide binding double-strand break repair via homologous recombination nucleic acid binding DNA binding DNA-directed DNA polymerase activity nucleus nucleolus DNA replication DNA repair cellular response to DNA damage stimulus zeta DNA polymerase complex transferase activity nucleotidyltransferase activity translesion synthesis error-prone translesion synthesis metal ion binding iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding nucleic acid phosphodiester bond hydrolysis 3'-5' exonuclease activity uc007ewd.1 uc007ewd.2 uc007ewd.3 uc007ewd.4 
ENSMUST00000019987.7 Traf3ip2 ENSMUST00000019987.7 TRAF3 interacting protein 2 (from RefSeq NM_134000.3) CIKS_MOUSE ENSMUST00000019987.1 ENSMUST00000019987.2 ENSMUST00000019987.3 ENSMUST00000019987.4 ENSMUST00000019987.5 ENSMUST00000019987.6 NM_134000 Q8BH33 Q8N7N6 Traf3ip2 uc007ewa.1 uc007ewa.2 E3 ubiquitin ligase that catalyzes 'Lys63'-linked polyubiquitination of target protein, enhancing protein-protein interaction and cell signaling (By similarity). Transfers ubiquitin from E2 ubiquitin-conjugating enzyme UBE2V1-UBE2N to substrate protein (By similarity). Essential adapter molecule in IL17A-mediated signaling (PubMed:19825828). Upon IL17A stimulation, interacts with IL17RA and IL17RC receptor chains through SEFIR domains and catalyzes 'Lys63'- linked polyubiquitination of TRAF6, leading to TRAF6-mediated activation of NF-kappa-B and MAPkinase pathways (PubMed:19825828). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Interacts with IKBKG/NF-kappa B essential modulator, with CHUK/IKK-alpha and with IKBKB/IKK-beta (By similarity). Interacts with TRAF6; this interaction is direct (PubMed:19825828). Interacts with IL17RA and IL17RC (PubMed:19825828, PubMed:33723527). Interacts with IL17RB (By similarity). Q8N7N6; Q9R0T8: Ikbke; NbExp=3; IntAct=EBI-646165, EBI-6664658; Q8N7N6; P70191: Traf5; NbExp=3; IntAct=EBI-646165, EBI-523899; Q8N7N6; P70196: Traf6; NbExp=4; IntAct=EBI-646165, EBI-448028; B cell apoptotic process positive regulation of defense response to virus by host receptor binding protein binding humoral immune response positive regulation of I-kappaB kinase/NF-kappaB signaling immunoglobulin secretion uc007ewa.1 uc007ewa.2 
ENSMUST00000019991.8 Tube1 ENSMUST00000019991.8 tubulin, epsilon 1 (from RefSeq NM_028006.2) ENSMUST00000019991.1 ENSMUST00000019991.2 ENSMUST00000019991.3 ENSMUST00000019991.4 ENSMUST00000019991.5 ENSMUST00000019991.6 ENSMUST00000019991.7 NM_028006 Q9D6T1 TBE_MOUSE uc007evu.1 uc007evu.2 Found in a complex with TEDC1, TEDC2, TUBE1 and TUBD1. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Note=Associated with pericentriolar material. Belongs to the tubulin family. nucleotide binding microtubule cytoskeleton organization mitotic cell cycle GTPase activity structural constituent of cytoskeleton GTP binding cytoplasm microtubule organizing center cytoskeleton microtubule microtubule-based process uc007evu.1 uc007evu.2 
ENSMUST00000019992.6 Lama4 ENSMUST00000019992.6 laminin, alpha 4 (from RefSeq NM_010681.4) ENSMUST00000019992.1 ENSMUST00000019992.2 ENSMUST00000019992.3 ENSMUST00000019992.4 ENSMUST00000019992.5 LAMA4_MOUSE NM_010681 O88785 P70409 P97927 Q14BF2 uc007evq.1 uc007evq.2 uc007evq.3 Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Alpha-4 is a subunit of laminin-8 (laminin-411), laminin-9 (laminin-421) and laminin-14 (laminin-423). Secreted, extracellular space, extracellular matrix, basement membrane. Secreted Note=Major basement membrane component. Strongly expressed in peripheral nerves, cardiac muscle, fat, dermis, lung stroma, aortic endothelium, endocardium and endothelium of blood vessels in skin and brain. The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure. Domain G is globular. blood vessel development receptor binding extracellular matrix structural constituent extracellular region basement membrane extracellular space cell adhesion regulation of cell adhesion regulation of cell migration neuromuscular junction synaptic cleft regulation of embryonic development brown fat cell differentiation uc007evq.1 uc007evq.2 uc007evq.3 
ENSMUST00000019994.14 Popdc3 ENSMUST00000019994.14 popeye domain containing 3 (from RefSeq NM_024286.1) ENSMUST00000019994.1 ENSMUST00000019994.10 ENSMUST00000019994.11 ENSMUST00000019994.12 ENSMUST00000019994.13 ENSMUST00000019994.2 ENSMUST00000019994.3 ENSMUST00000019994.4 ENSMUST00000019994.5 ENSMUST00000019994.6 ENSMUST00000019994.7 ENSMUST00000019994.8 ENSMUST00000019994.9 NM_024286 POPD3_MOUSE Pop3 Q1RME0 Q9ES81 uc007ezy.1 uc007ezy.2 uc007ezy.3 May play a role in the maintenance of heart function mediated, at least in part, through cAMP-binding. May play a role in the regulation of KCNK2-mediated current amplitude (By similarity). Membrane ; Multi-pass membrane protein Expressed in cardiac and skeletal muscle. Belongs to the popeye family. nucleotide binding heart development skeletal muscle tissue development membrane integral component of membrane cAMP binding sarcolemma regulation of membrane potential striated muscle cell differentiation uc007ezy.1 uc007ezy.2 uc007ezy.3 
ENSMUST00000019997.11 Tnfaip3 ENSMUST00000019997.11 tumor necrosis factor, alpha-induced protein 3, transcript variant 1 (from RefSeq NM_009397.3) ENSMUST00000019997.1 ENSMUST00000019997.10 ENSMUST00000019997.2 ENSMUST00000019997.3 ENSMUST00000019997.4 ENSMUST00000019997.5 ENSMUST00000019997.6 ENSMUST00000019997.7 ENSMUST00000019997.8 ENSMUST00000019997.9 NM_009397 Q3U968 Q60769 TNAP3_MOUSE Tnfip3 uc007enb.1 uc007enb.2 uc007enb.3 uc007enb.4 Ubiquitin-editing enzyme that contains both ubiquitin ligase and deubiquitinase activities. Involved in immune and inflammatory responses signaled by cytokines, such as TNF-alpha and IL-1 beta, or pathogens via Toll-like receptors (TLRs) through terminating NF-kappa-B activity. Essential component of a ubiquitin-editing protein complex, comprising also RNF11, ITCH and TAX1BP1, that ensures the transient nature of inflammatory signaling pathways. In cooperation with TAX1BP1 promotes disassembly of E2-E3 ubiquitin protein ligase complexes in IL- 1R and TNFR-1 pathways; affected are at least E3 ligases TRAF6, TRAF2 and BIRC2, and E2 ubiquitin-conjugating enzymes UBE2N and UBE2D3. In cooperation with TAX1BP1 promotes ubiquitination of UBE2N and proteasomal degradation of UBE2N and UBE2D3. Upon TNF stimulation, deubiquitinates 'Lys-63'-polyubiquitin chains on RIPK1 and catalyzes the formation of 'Lys-48'-polyubiquitin chains. This leads to RIPK1 proteasomal degradation and consequently termination of the TNF- or LPS-mediated activation of NF-kappa-B. Deubiquitinates TRAF6 probably acting on 'Lys-63'-linked polyubiquitin. Upon T-cell receptor (TCR)- mediated T-cell activation, deubiquitinates 'Lys-63'-polyubiquitin chains on MALT1 thereby mediating disassociation of the CBM (CARD11:BCL10:MALT1) and IKK complexes and preventing sustained IKK activation. Deubiquitinates NEMO/IKBKG; the function is facilitated by TNIP1 and leads to inhibition of NF-kappa-B activation. Upon stimulation by bacterial peptidoglycans, probably deubiquitinates RIPK2. Can also inhibit I-kappa-B-kinase (IKK) through a non-catalytic mechanism which involves polyubiquitin; polyubiquitin promotes association with IKBKG and prevents IKK MAP3K7-mediated phosphorylation. Targets TRAF2 for lysosomal degradation. In vitro able to deubiquitinate 'Lys-11'-, 'Lys-48'- and 'Lys-63' polyubiquitin chains. Inhibitor of programmed cell death. Has a role in the function of the lymphoid system. Required for LPS-induced production of pro- inflammatory cytokines and IFN beta in LPS-tolerized macrophages. Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76- residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Evidence=; Homodimer. Interacts with TNIP1, TAX1BP1 and TRAF2. Interacts with RNF11, ITCH and TAX1BP1 only after TNF stimulation; these interaction are transient and they are lost after 1 hour of stimulation with TNF (By similarity). Interacts with YWHAZ and YWHAH. Interacts with IKBKG; the interaction is induced by TNF stimulation and by polyubiquitin. Interacts with RIPK1. Interacts with UBE2N; the interaction requires TAX1BP1. Interacts with TRAF6 (By similarity). Q60769; Q9CYZ8: Ssbp2; NbExp=2; IntAct=EBI-646595, EBI-309962; Q60769; Q9WUU8: Tnip1; NbExp=4; IntAct=EBI-646595, EBI-6126152; Q60769; P39429: Traf2; NbExp=3; IntAct=EBI-646595, EBI-520016; Q60769; P01375: TNF; Xeno; NbExp=2; IntAct=EBI-646595, EBI-359977; Cytoplasm Nucleus Lysosome Found in most tissues during development. Strikingly high levels are found in lymphoid organs, including the thymus, spleen, and gut-associated lymphoid tissue. Constitutively expressed in immature and mature thymocyte subpopulations as well as in resting peripheral T-cells; activation of these leads to down- regulation. By cytokines. TNF-alpha may regulate expression in the thymus. Up-regulated in presence of reactive oxygen species (ROS), like H(2)O(2), in LPS-tolerized macrophages. The A20-type zinc fingers mediate the ubiquitin ligase activity. The A20-type zinc finger 4 selectively recognizes 'Lys-63'- linked polyubiquitin. The A20-type zinc finger 4-7 are sufficient to bind polyubiquitin (By similarity). The OTU domain mediates the deubiquitinase activity. Belongs to the peptidase C64 family. B-1 B cell homeostasis protease binding response to molecule of bacterial origin marginal zone B cell differentiation negative regulation of granuloma formation regulation of germinal center formation regulation of immunoglobulin production negative regulation of chronic inflammatory response DNA binding catalytic activity ubiquitin-protein transferase activity thiol-dependent ubiquitin-specific protease activity protein binding nucleus cytoplasm lysosome proteolysis apoptotic process inflammatory response cytoskeleton organization metabolic process peptidase activity cysteine-type peptidase activity zinc ion binding response to wounding negative regulation of autophagy cell migration protein ubiquitination protein deubiquitination transferase activity hydrolase activity kinase binding positive regulation of Wnt signaling pathway negative regulation of protein ubiquitination negative regulation of NF-kappaB transcription factor activity response to muramyl dipeptide negative regulation of interleukin-1 beta production negative regulation of interleukin-2 production negative regulation of interleukin-6 production negative regulation of tumor necrosis factor production negative regulation of heterotypic cell-cell adhesion negative regulation of toll-like receptor 3 signaling pathway negative regulation of toll-like receptor 5 signaling pathway protein K29-linked deubiquitination protein K11-linked deubiquitination thiol-dependent ubiquitinyl hydrolase activity identical protein binding negative regulation of I-kappaB kinase/NF-kappaB signaling ubiquitin binding intracellular membrane-bounded organelle protein self-association regulation of innate immune response positive regulation of protein catabolic process negative regulation of cyclin-dependent protein serine/threonine kinase activity negative regulation of innate immune response metal ion binding negative regulation of smooth muscle cell proliferation negative regulation of interleukin-1 beta secretion negative regulation of inflammatory response negative regulation of B cell activation negative regulation of cell death Lys63-specific deubiquitinase activity cellular response to hydrogen peroxide negative regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway K63-linked polyubiquitin binding protein K63-linked deubiquitination protein K48-linked ubiquitination protein K48-linked deubiquitination cellular response to lipopolysaccharide protein deubiquitination involved in ubiquitin-dependent protein catabolic process tolerance induction to lipopolysaccharide establishment of protein localization to vacuole negative regulation of extrinsic apoptotic signaling pathway via death domain receptors positive regulation of cellular protein catabolic process protein K33-linked deubiquitination positive regulation of hepatocyte proliferation negative regulation of CD40 signaling pathway negative regulation of endothelial cell apoptotic process uc007enb.1 uc007enb.2 uc007enb.3 uc007enb.4 
ENSMUST00000019998.9 Perp ENSMUST00000019998.9 PERP, TP53 apoptosis effector (from RefSeq NM_022032.4) ENSMUST00000019998.1 ENSMUST00000019998.2 ENSMUST00000019998.3 ENSMUST00000019998.4 ENSMUST00000019998.5 ENSMUST00000019998.6 ENSMUST00000019998.7 ENSMUST00000019998.8 Krtcap1 NM_022032 PERP_MOUSE Q9JI77 Q9JK95 uc007emz.1 uc007emz.2 uc007emz.3 uc007emz.4 Component of intercellular desmosome junctions. Plays a role in stratified epithelial integrity and cell-cell adhesion by promoting desmosome assembly. Plays a role as an effector in the TP53-dependent apoptotic pathway. Plays a role as an effector in the TP53-dependent apoptotic pathway. Cell junction, desmosome Cell membrane ; Multi-pass membrane protein Note=Associated with desmosomes. Expressed in the stratified squamous skin epithelium of the skin and the tongue, but not in simple epithelia (at protein level). Expressed in apoptotic cells. Expressed in developing skin during and after the stratification process from 9.5 to 15.5 dpc (at protein level). Expressed in ectoderm of the developing branchial arches and limb buds from the 9.5 to 10.5 dpc. Expressed in epithelia of the oral mucosa and skin from the 16.5 to 18.5 dpc. Up-regulated by UV irradiation, doxorubicin (DOX) and TP53 in embryo fibroblasts. Deficient mice exhibit postnatal lethality and defects in stratified epithelia. Belongs to the TMEM47 family. desmosome organization mitochondrion Golgi apparatus plasma membrane integral component of plasma membrane apoptotic process cell adhesion Notch signaling pathway membrane integral component of membrane cell junction desmosome heterotypic cell-cell adhesion positive regulation of proteolysis intrinsic apoptotic signaling pathway by p53 class mediator amelogenesis activation of cysteine-type endopeptidase activity uc007emz.1 uc007emz.2 uc007emz.3 uc007emz.4 
ENSMUST00000020000.7 Hebp2 ENSMUST00000020000.7 heme binding protein 2 (from RefSeq NM_019487.3) ENSMUST00000020000.1 ENSMUST00000020000.2 ENSMUST00000020000.3 ENSMUST00000020000.4 ENSMUST00000020000.5 ENSMUST00000020000.6 HEBP2_MOUSE NM_019487 Q9WU63 Soul uc007emk.1 uc007emk.2 uc007emk.3 Can promote mitochondrial permeability transition and facilitate necrotic cell death under different types of stress conditions (By similarity). May have low affinity for heme (PubMed:15518569). Monomer. Interacts with LRPPRC. May interact with BCL2L1; an interaction with BCL2L1 was observed using a peptide, but not with the full-length protein. The full-length protein would have to undergo a major conformation change for the interaction to occur. Interacts with PDCD6. Cytoplasm Mitochondrion Note=Mainly localized to the cytoplasm with a much lower abundance in the mitochondrion. Forms a distorted beta-barrel structure, with two helices that are packed against the outer surface of the barrel. Belongs to the HEBP family. Has been described as heme-binding protein (PubMed:15518569) in mouse, but the human protein does not bind hemin. His-42, a residue essential for heme binding in mouse, is not conserved in all orthologs, or in the heme-binding family member HEBP1. cytoplasm mitochondrion negative regulation of mitochondrial membrane potential positive regulation of necrotic cell death heme binding positive regulation of mitochondrial membrane permeability uc007emk.1 uc007emk.2 uc007emk.3 
ENSMUST00000020002.9 Abracl ENSMUST00000020002.9 ABRA C-terminal like, transcript variant 1 (from RefSeq NM_028440.1) 3110003A17Rik Abracl E9QMV2 E9QMV2_MOUSE ENSMUST00000020002.1 ENSMUST00000020002.2 ENSMUST00000020002.3 ENSMUST00000020002.4 ENSMUST00000020002.5 ENSMUST00000020002.6 ENSMUST00000020002.7 ENSMUST00000020002.8 NM_028440 uc007ely.1 uc007ely.2 uc007ely.3 uc007ely.4 Belongs to the costars family. uc007ely.1 uc007ely.2 uc007ely.3 uc007ely.4 
ENSMUST00000020003.15 Fam184a ENSMUST00000020003.15 family with sequence similarity 184, member A (from RefSeq NM_001081428.2) E9PW83 E9PW83_MOUSE ENSMUST00000020003.1 ENSMUST00000020003.10 ENSMUST00000020003.11 ENSMUST00000020003.12 ENSMUST00000020003.13 ENSMUST00000020003.14 ENSMUST00000020003.2 ENSMUST00000020003.3 ENSMUST00000020003.4 ENSMUST00000020003.5 ENSMUST00000020003.6 ENSMUST00000020003.7 ENSMUST00000020003.8 ENSMUST00000020003.9 Fam184a NM_001081428 uc007fbu.1 uc007fbu.2 uc007fbu.3 uc007fbu.4 molecular_function biological_process uc007fbu.1 uc007fbu.2 uc007fbu.3 uc007fbu.4 
ENSMUST00000020004.8 Asf1a ENSMUST00000020004.8 anti-silencing function 1A histone chaperone (from RefSeq NM_025541.3) ASF1A_MOUSE Asf1a ENSMUST00000020004.1 ENSMUST00000020004.2 ENSMUST00000020004.3 ENSMUST00000020004.4 ENSMUST00000020004.5 ENSMUST00000020004.6 ENSMUST00000020004.7 NM_025541 Q9CQE6 uc007fbr.1 uc007fbr.2 uc007fbr.3 uc007fbr.4 Histone chaperone that facilitates histone deposition and histone exchange and removal during nucleosome assembly and disassembly. Cooperates with chromatin assembly factor 1 (CAF-1) to promote replication-dependent chromatin assembly and with HIRA to promote replication-independent chromatin assembly. Promotes homologous recombination-mediated repair of double-strand breaks (DSBs) at stalled or collapsed replication forks: acts by mediating histone replacement at DSBs, leading to recruitment of the MMS22L-TONSL complex and subsequent loading of RAD51. Also involved in the nuclear import of the histone H3-H4 dimer together with importin-4 (IPO4): specifically recognizes and binds newly synthesized histones with the monomethylation of H3 'Lys-9' and acetylation at 'Lys-14' (H3K9me1K14ac) marks, and diacetylation at 'Lys-5' and 'Lys-12' of H4 (H4K5K12ac) marks in the cytosol. Required for the formation of senescence-associated heterochromatin foci (SAHF) and efficient senescence-associated cell cycle exit. Interacts with histone H3 (including both histone H3.1 and H3.3) and histone H4. Interacts with the CHAF1A, CHAF1B and RBBP4 subunits of the CAF-1 complex. Interacts with CABIN1, HAT1, HIRA, NASP, TAF1 and UBN1. Interacts with CDAN1. Found in a cytosolic complex with IPO4 and histones H3 and H4. Interacts with CREBBP. Nucleus Chromosome Phosphorylated by TLK1 and TLK2. Highly phosphorylated in S-phase and at lower levels in M-phase. TLK2-mediated phosphorylation at Ser- 192 prevents proteasome-dependent degradation. Phosphorylation at Ser- 192 by PRKDC in response to DNA damage promotes the histone chaperone activity and ability to replace histones at double-strand breaks (DSBs) at stalled or collapsed replication forks, leading to RAD51 recruitment. Embryonic lethality at mid-gestation (9.5 dpc). Belongs to the ASF1 family. nuclear chromatin osteoblast differentiation chromatin binding nucleus nucleoplasm DNA repair chromatin organization chromatin assembly or disassembly nucleosome assembly DNA replication-dependent nucleosome assembly DNA replication-independent nucleosome assembly macromolecular complex histone binding muscle cell differentiation uc007fbr.1 uc007fbr.2 uc007fbr.3 uc007fbr.4 
ENSMUST00000020008.10 Gopc ENSMUST00000020008.10 golgi associated PDZ and coiled-coil motif containing, transcript variant 2 (from RefSeq NM_053187.3) Cal ENSMUST00000020008.1 ENSMUST00000020008.2 ENSMUST00000020008.3 ENSMUST00000020008.4 ENSMUST00000020008.5 ENSMUST00000020008.6 ENSMUST00000020008.7 ENSMUST00000020008.8 ENSMUST00000020008.9 GOPC_MOUSE Gopc NM_053187 Q8BH60 Q8BSV4 Q920R1 Q9ET11 uc007fbf.1 uc007fbf.2 uc007fbf.3 uc007fbf.4 Plays a role in intracellular protein trafficking and degradation (PubMed:12149515). May regulate CFTR chloride currents and acid-induced ASIC3 currents by modulating cell surface expression of both channels (PubMed:15317815). May also regulate the intracellular trafficking of the ADR1B receptor (By similarity). May play a role in autophagy (PubMed:12372286). Together with MARCHF2 mediates the ubiquitination and lysosomal degradation of CFTR (By similarity). Overexpression results in CFTR intracellular retention and degradation in the lysosomes (By similarity). Homooligomer (PubMed:11162552). Interacts with FZD5 (PubMed:11520064). Interacts with FZD8 (PubMed:11520064). Interacts with GRID2 and BECN1 (PubMed:12372286). Interacts with CSPG5 (PubMed:12885772). Interacts with CLCN3 (PubMed:12471024). Interacts with STX6 (By similarity). Interacts with CFTR (PubMed:12471024). Interacts with ASIC3 (PubMed:15317815). Interacts with GOLGA3 (By similarity). Interacts with NLGN1 (By similarity). Interacts with RHOQ (PubMed:11162552). Interacts with MARCHF2; the interaction leads to CFTR ubiquitination and degradation (By similarity). May interact with CACNG2 (PubMed:15136571). Interacts with CCDC62 (PubMed:28339613). Q8BH60; O88597: Becn1; NbExp=5; IntAct=EBI-296357, EBI-643716; Q8BH60; Q9EQD0: Fzd5; NbExp=3; IntAct=EBI-296357, EBI-7938232; Q8BH60; Q61091: Fzd8; NbExp=3; IntAct=EBI-296357, EBI-6171689; Q8BH60; Q61625: Grid2; NbExp=5; IntAct=EBI-296357, EBI-2794106; Q8BH60; O95196: CSPG5; Xeno; NbExp=3; IntAct=EBI-296357, EBI-296349; Cytoplasm. Golgi apparatus membrane; Peripheral membrane protein. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Synapse. Postsynaptic density. Cell projection, dendrite. Note=Enriched in synaptosomal and postsynaptic densities (PSD) fractions. Expressed in cell bodies and dendrites of Purkinje cells. Localized at the trans-Golgi network (TGN) of spermatids and the medulla of round spermatides. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=NPIST, Beta; IsoId=Q8BH60-1; Sequence=Displayed; Name=2; Synonyms=Alpha; IsoId=Q8BH60-2; Sequence=VSP_016065; Ubiquitously expressed (at protein level). Expressed in dorsal root glanglion (DRG), spinal cord and brain. Isoform 1 is preferentially expressed in whole brain (at protein level) and cerebellum. Expressed in spermatocytes and spermatides but not in Sertoli cells and spermatogonia. In the cerebellum, expression increases post- natally, following maturation of this tissue (at protein level). The coiled-coil region probably mediates targeting to the Golgi, oligomerization and interaction with RHOQ. May also mediates association to membranes and interactions with GOLGA3 and STX6 (By similarity). The PDZ domain mediates interaction with ADRB1 (By similarity). Mediates also interactions with FZD5, FZD8, ASIC3, GRID2, CFTR, CLCN3. Male mice are infertile with globozoospermia. Spermatozoa display a default in acrosome formation and are unable to activate oocytes. Golgi membrane frizzled binding protein binding cytoplasm Golgi apparatus plasma membrane autophagy spermatid nucleus differentiation protein C-terminus binding negative regulation of anion channel activity postsynaptic density protein transport membrane syntaxin binding cell junction trans-Golgi network transport vesicle dendrite GTPase regulator activity macromolecular complex protein homodimerization activity cell projection cytoplasmic sequestering of CFTR protein ion channel binding synapse postsynaptic membrane regulation of catalytic activity protein homooligomerization negative regulation of protein localization to cell surface uc007fbf.1 uc007fbf.2 uc007fbf.3 uc007fbf.4 
ENSMUST00000020012.7 Qrsl1 ENSMUST00000020012.7 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1 (from RefSeq NM_001081054.2) ENSMUST00000020012.1 ENSMUST00000020012.2 ENSMUST00000020012.3 ENSMUST00000020012.4 ENSMUST00000020012.5 ENSMUST00000020012.6 GATA_MOUSE NM_001081054 Q3TDF6 Q6NS53 Q9CZN8 uc007ezn.1 uc007ezn.2 uc007ezn.3 Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln). Reaction=ATP + H2O + L-glutamine + L-glutamyl-tRNA(Gln) = ADP + H(+) + L-glutamate + L-glutaminyl-tRNA(Gln) + phosphate; Xref=Rhea:RHEA:17521, Rhea:RHEA-COMP:9681, Rhea:RHEA-COMP:9684, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58359, ChEBI:CHEBI:78520, ChEBI:CHEBI:78521, ChEBI:CHEBI:456216; EC=6.3.5.7; Evidence=; Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (GATB) and C (GATC) subunits. Mitochondrion Belongs to the amidase family. GatA subfamily. nucleotide binding amidase activity ATP binding mitochondrion translation ligase activity carbon-nitrogen ligase activity, with glutamine as amido-N-donor glutamyl-tRNA(Gln) amidotransferase complex regulation of protein stability mitochondrial translation glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity glutaminyl-tRNAGln biosynthesis via transamidation uc007ezn.1 uc007ezn.2 uc007ezn.3 
ENSMUST00000020015.10 Nmbr ENSMUST00000020015.10 neuromedin B receptor (from RefSeq NM_008703.3) ENSMUST00000020015.1 ENSMUST00000020015.2 ENSMUST00000020015.3 ENSMUST00000020015.4 ENSMUST00000020015.5 ENSMUST00000020015.6 ENSMUST00000020015.7 ENSMUST00000020015.8 ENSMUST00000020015.9 NM_008703 Nmbr Q0VEH1 Q0VEH1_MOUSE uc007elp.1 uc007elp.2 uc007elp.3 Membrane ; Multi- pass membrane protein Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity bombesin receptor activity cytosol plasma membrane signal transduction G-protein coupled receptor signaling pathway G-protein coupled peptide receptor activity membrane integral component of membrane bombesin receptor signaling pathway uc007elp.1 uc007elp.2 uc007elp.3 
ENSMUST00000020016.5 Gje1 ENSMUST00000020016.5 gap junction protein, epsilon 1, transcript variant 6 (from RefSeq NR_175972.1) CXE1_MOUSE Cx23 ENSMUST00000020016.1 ENSMUST00000020016.2 ENSMUST00000020016.3 ENSMUST00000020016.4 Gje1 Gjf1 NR_175972 Q9CX92 uc007elo.1 uc007elo.2 uc007elo.3 Mediates calcium-independent ATP release, suggesting activity as a hemichannel (PubMed:18849090). Does not form functional gap junctions (PubMed:18849090). May play a non-essential role in eye lens development (PubMed:18385072, PubMed:27038752). A connexon is composed of a hexamer of connexins. Cell membrane ; Multi-pass membrane protein Highly expressed in lens, where it is mainly found in lens fibers and to a lesser extent in lens epithelium (PubMed:18385072, PubMed:18849090). Weakly expressed in retina (PubMed:18849090). Not detected in other tissues tested (PubMed:18385072, PubMed:18849090). Expressed at the posterior region of the lens vesicle at embryonic stage 11.5 dpc. Detected at the tip of elongating lens fiber cells at stage 12.5 dpc. Expressed in lens epithelial cells, and weakly in retina, at stage 15.5 dpc. No visible phenotype. Eye morphology appears to be normal with no significant effects on lens transparency and refraction. Expression levels of the connexins Cx46 and Cx50 in lens tissue are slightly reduced. Belongs to the connexin family. Beta-type (group I) subfamily. cell morphogenesis lens development in camera-type eye molecular_function cellular_component plasma membrane connexin complex cell communication multicellular organism development membrane integral component of membrane organ growth uc007elo.1 uc007elo.2 uc007elo.3 
ENSMUST00000020022.8 Smpdl3a ENSMUST00000020022.8 sphingomyelin phosphodiesterase, acid-like 3A (from RefSeq NM_020561.2) ASM3A_MOUSE Asml3a ENSMUST00000020022.1 ENSMUST00000020022.2 ENSMUST00000020022.3 ENSMUST00000020022.4 ENSMUST00000020022.5 ENSMUST00000020022.6 ENSMUST00000020022.7 NM_020561 P70158 Q3U8C2 uc007fcu.1 uc007fcu.2 uc007fcu.3 Has in vitro nucleotide phosphodiesterase activity with nucleoside triphosphates, such as ATP (PubMed:26792860). Has in vitro activity with p-nitrophenyl-TMP. Has lower activity with nucleoside diphosphates, and no activity with nucleoside monophosphates. Has in vitro activity with CDP-choline, giving rise to CMP and phosphocholine. Has in vitro activity with CDP-ethanolamine. Does not have sphingomyelin phosphodiesterase activity (By similarity). Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) per subunit. ; Requires micromolar levels of Zn(2+) for activity. Inhibited by millimolar levels of Zn(2+). Kinetic parameters: KM=107 uM for ATP at pH 5 ; KM=330 uM for ATP at pH 7.5 ; Secreted Detected in blood serum (at protein level). N-glycosylated. Belongs to the acid sphingomyelinase family. extracellular region extracellular space phosphoric diester hydrolase activity biological_process zinc ion binding nucleoside triphosphate catabolic process hydrolase activity metal ion binding sphingomyelin phosphodiesterase activity sphingomyelin catabolic process uc007fcu.1 uc007fcu.2 uc007fcu.3 
ENSMUST00000020023.9 Reep3 ENSMUST00000020023.9 receptor accessory protein 3, transcript variant 2 (from RefSeq NM_178606.5) D10Ucla1 ENSMUST00000020023.1 ENSMUST00000020023.2 ENSMUST00000020023.3 ENSMUST00000020023.4 ENSMUST00000020023.5 ENSMUST00000020023.6 ENSMUST00000020023.7 ENSMUST00000020023.8 NM_178606 Q99KK1 Q9CZM8 Q9D8G3 REEP3_MOUSE uc007flq.1 uc007flq.2 uc007flq.3 uc007flq.4 Microtubule-binding protein required to ensure proper cell division and nuclear envelope reassembly by sequestering the endoplasmic reticulum away from chromosomes during mitosis. Probably acts by clearing the endoplasmic reticulum membrane from metaphase chromosomes (By similarity). Endoplasmic reticulum membrane ; Multi-pass membrane protein Belongs to the DP1 family. Sequence=BAB25434.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; molecular_function cellular_component endoplasmic reticulum endoplasmic reticulum membrane microtubule nuclear envelope organization cell cycle mitotic nuclear envelope reassembly membrane integral component of membrane cell division uc007flq.1 uc007flq.2 uc007flq.3 uc007flq.4 
ENSMUST00000020024.12 Fabp7 ENSMUST00000020024.12 fatty acid binding protein 7, brain (from RefSeq NM_021272.3) Blbp ENSMUST00000020024.1 ENSMUST00000020024.10 ENSMUST00000020024.11 ENSMUST00000020024.2 ENSMUST00000020024.3 ENSMUST00000020024.4 ENSMUST00000020024.5 ENSMUST00000020024.6 ENSMUST00000020024.7 ENSMUST00000020024.8 ENSMUST00000020024.9 FABP7_MOUSE NM_021272 P51880 Q4FJK4 uc007fct.1 uc007fct.2 uc007fct.3 B-FABP could be involved in the transport of a so far unknown hydrophobic ligand with potential morphogenic activity during CNS development. It is required for the establishment of the radial glial fiber system in developing brain, a system that is necessary for the migration of immature neurons to establish cortical layers. Cytoplasm. Expressed in brain and other neural tissues. Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. startle response fatty acid binding nucleus cytoplasm cytosol cell-cell junction lipid binding cell proliferation in forebrain neurogenesis cell projection neuronal cell body cell body epithelial cell proliferation prepulse inhibition cell periphery uc007fct.1 uc007fct.2 uc007fct.3 
ENSMUST00000020027.11 Serinc1 ENSMUST00000020027.11 serine incorporator 1 (from RefSeq NM_019760.4) Aigp2 ENSMUST00000020027.1 ENSMUST00000020027.10 ENSMUST00000020027.2 ENSMUST00000020027.3 ENSMUST00000020027.4 ENSMUST00000020027.5 ENSMUST00000020027.6 ENSMUST00000020027.7 ENSMUST00000020027.8 ENSMUST00000020027.9 NM_019760 Q3UZ93 Q9QZI8 SERC1_MOUSE Tde1l Tde2 Tms2 uc007fcm.1 uc007fcm.2 uc007fcm.3 uc007fcm.4 uc007fcm.5 uc007fcm.6 Enhances the incorporation of serine into phosphatidylserine and sphingolipids. Interacts with SPTLC1. Endoplasmic reticulum membrane ; Multi-pass membrane protein Highly expressed in the neuronal populations such as Purkinje cells in the cerebellum, brainstem and spinal motor neurons, locus coeruleus and raphe nuclei. Belongs to the TDE1 family. endoplasmic reticulum endoplasmic reticulum membrane plasma membrane lipid metabolic process phosphatidylserine metabolic process sphingolipid metabolic process phospholipid biosynthetic process membrane integral component of membrane enzyme binding protein binding, bridging membrane biogenesis positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity positive regulation of serine C-palmitoyltransferase activity uc007fcm.1 uc007fcm.2 uc007fcm.3 uc007fcm.4 uc007fcm.5 uc007fcm.6 
ENSMUST00000020040.5 Nts ENSMUST00000020040.5 neurotensin (from RefSeq NM_024435.2) ENSMUST00000020040.1 ENSMUST00000020040.2 ENSMUST00000020040.3 ENSMUST00000020040.4 NEUT_MOUSE NM_024435 Q9D3P9 uc007gye.1 uc007gye.2 uc007gye.3 Neurotensin may play an endocrine or paracrine role in the regulation of fat metabolism. It causes contraction of smooth muscle (By similarity). Interacts with NTSR1. Interacts with SORT1. Interacts with SORL1. Secreted Cytoplasmic vesicle, secretory vesicle Note=Packaged within secretory vesicles. [Neurotensin]: Neurotensin is cleaved and degraded by Angiotensin- converting enzyme (ACE) and neprilysin (MME). Belongs to the neurotensin family. neuropeptide hormone activity extracellular region signal transduction visual learning transport vesicle cytoplasmic vesicle killing of cells of other organism neuronal cell body axon terminus uc007gye.1 uc007gye.2 uc007gye.3 
ENSMUST00000020045.10 Ros1 ENSMUST00000020045.10 Ros1 proto-oncogene (from RefSeq NM_011282.2) ENSMUST00000020045.1 ENSMUST00000020045.2 ENSMUST00000020045.3 ENSMUST00000020045.4 ENSMUST00000020045.5 ENSMUST00000020045.6 ENSMUST00000020045.7 ENSMUST00000020045.8 ENSMUST00000020045.9 NM_011282 Q60705 Q78DX7 ROS1_MOUSE Ros Ros-1 uc007fbb.1 uc007fbb.2 Receptor tyrosine kinase (RTK) that plays a role in epithelial cell differentiation and regionalization of the proximal epididymal epithelium. NELL2 is an endogenous ligand for ROS1. Upon endogenous stimulation by NELL2, ROS1 activates the intracellular signaling pathway and triggers epididymal epithelial differentiation and subsequent sperm maturation (PubMed:32499443). May activate several downstream signaling pathways related to cell differentiation, proliferation, growth and survival including the PI3 kinase-mTOR signaling pathway. Mediates the phosphorylation of PTPN11, an activator of this pathway. May also phosphorylate and activate the transcription factor STAT3 to control anchorage-independent cell growth. Mediates the phosphorylation and the activation of VAV3, a guanine nucleotide exchange factor regulating cell morphology. May activate other downstream signaling proteins including AKT1, MAPK1, MAPK3, IRS1, and PLCG2. Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence=; Inhibited by dephosphorylation by PTPN6. Interacts with PTPN11; may activate the PI3 kinase-mTOR signaling pathway. Interacts with VAV3; constitutive interaction mediating VAV3 phosphorylation (By similarity). Interacts with PTPN6 (via SH2 1 domain); the interaction is direct and promotes ROS1 dephosphorylation. Cell membrane ; Single-pass type I membrane protein Expressed by epithelial cells of the caput epididymis (at protein level). Phosphorylated. Probably autophosphorylates. Phosphorylation at Tyr-2267 and/or Tyr-2327 recruits PTPN11 (By similarity). Phosphorylation at Tyr-2267 is required for the interaction with PTPN6 that mediates ROS1 dephosphorylation (PubMed:11266449). Phosphorylation at Tyr-2267 stimulates the kinase activity and the activation of the ERK1 signaling cascade (PubMed:11266449). Mice are viable and healthy. Females display normal fertility while males are sterile due a non-cell autonomous defect in sperm maturation. It is associated with the absence of tall columnar epithelial cells with long microvilli in the proximal part of the caput epididymidis. Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily. nucleotide binding regulation of cell growth columnar/cuboidal epithelial cell development protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity ATP binding plasma membrane integral component of plasma membrane protein phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway spermatogenesis cell proliferation cell surface negative regulation of gene expression regulation of phosphate transport membrane integral component of membrane kinase activity phosphorylation transferase activity protein phosphatase binding signal transduction by protein phosphorylation cell differentiation regulation of TOR signaling peptidyl-tyrosine autophosphorylation receptor complex perinuclear region of cytoplasm regulation of ERK1 and ERK2 cascade uc007fbb.1 uc007fbb.2 
ENSMUST00000020049.9 Ccdc59 ENSMUST00000020049.9 coiled-coil domain containing 59 (from RefSeq NM_025602.3) D10Ertd718e ENSMUST00000020049.1 ENSMUST00000020049.2 ENSMUST00000020049.3 ENSMUST00000020049.4 ENSMUST00000020049.5 ENSMUST00000020049.6 ENSMUST00000020049.7 ENSMUST00000020049.8 NM_025602 Q8BZ86 Q8R2N0 Q9CR69 Q9CV91 TAP26_MOUSE Tap26 uc007gyp.1 uc007gyp.2 uc007gyp.3 Component of the transcription complexes of the pulmonary surfactant-associated protein-B (SFTPB) and -C (SFTPC). Enhances homeobox protein Nkx-2.1-activated SFTPB and SFTPC promoter activities (By similarity). Interacts with NKX2-1. Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8R2N0-1; Sequence=Displayed; Name=2; IsoId=Q8R2N0-2; Sequence=VSP_027489, VSP_027490; Belongs to the TAP26 family. nucleus uc007gyp.1 uc007gyp.2 uc007gyp.3 
ENSMUST00000020057.16 Lin7a ENSMUST00000020057.16 lin-7 homolog A, crumbs cell polarity complex component, transcript variant 1 (from RefSeq NM_001039354.2) ENSMUST00000020057.1 ENSMUST00000020057.10 ENSMUST00000020057.11 ENSMUST00000020057.12 ENSMUST00000020057.13 ENSMUST00000020057.14 ENSMUST00000020057.15 ENSMUST00000020057.2 ENSMUST00000020057.3 ENSMUST00000020057.4 ENSMUST00000020057.5 ENSMUST00000020057.6 ENSMUST00000020057.7 ENSMUST00000020057.8 ENSMUST00000020057.9 LIN7A_MOUSE Mals1 NM_001039354 Q8JZS0 Veli1 uc007gyy.1 uc007gyy.2 uc007gyy.3 Plays a role in establishing and maintaining the asymmetric distribution of channels and receptors at the plasma membrane of polarized cells. Forms membrane-associated multiprotein complexes that may regulate delivery and recycling of proteins to the correct membrane domains. The tripartite complex composed of LIN7 (LIN7A, LIN7B or LIN7C), CASK and APBA1 associates with the motor protein KIF17 to transport vesicles containing N-methyl-D-aspartate (NMDA) receptor subunit NR2B along microtubules (PubMed:10846156). This complex may have the potential to couple synaptic vesicle exocytosis to cell adhesion in brain. Ensures the proper localization of GRIN2B (subunit 2B of the NMDA receptor) to neuronal postsynaptic density and may function in localizing synaptic vesicles at synapses where it is recruited by beta-catenin and cadherin. Required to localize Kir2 channels, GABA transporter (SLC6A12) and EGFR/ERBB1, ERBB2, ERBB3 and ERBB4 to the basolateral membrane of epithelial cells. Forms a complex with CASK and CASKIN1 (By similarity). Component of the brain-specific heterotrimeric complex (LIN-10-LIN-2- LIN-7 complex) composed of at least APBA1, CASK, and LIN7, which associates with the motor protein KIF17 to transport vesicles along microtubules (PubMed:10846156). Can also interact with other modular proteins containing protein-protein interaction domains like PALS1, PALS2, MPP7, DLG1, DLG2 and DLG3 through its L27 domain. Interacts with DLG4, GRIN2B and MARCHF11 as well as CDH1 and CTNNB1, the channels KCNJ12/Kir2.2, KCNJ4/Kir2.3 and probably KCNJ2/Kir2.1 and SLC6A12/BGT-1 via its PDZ domain. The association of LIN7A with cadherin and beta- catenin is calcium-dependent, occurs at synaptic junctions and requires the actin cytoskeleton. Interacts with EGFR, ERBB2, ERBB3 and ERBB4 with both PDZ and KID domains. Associates with KIF17 via APBA1. Interacts with HTR4. Forms a tripartite complex composed of DLG1, MPP7 and LIN7 (LIN7A or LIN7C) (By similarity). Cell membrane ; Peripheral membrane protein Basolateral cell membrane ; Peripheral membrane protein Cell junction Postsynaptic density membrane ; Peripheral membrane protein Cell junction, tight junction Note=Mainly basolateral in renal epithelial cells. Expressed in the kidney, along the length of the nephron. The kinase interacting site is required for proper delivery of ERBB2 to the basolateral membrane. The PDZ domain regulates endocytosis and recycling of the receptor at the membrane. The L27 domain mediates interaction with CASK and is involved in the formation of multimeric complexes and the association of LIN7 to membranes. Belongs to the lin-7 family. protein binding plasma membrane cell-cell junction bicellular tight junction exocytosis neurotransmitter secretion postsynaptic density protein transport membrane basolateral plasma membrane cell junction neuron projection maintenance of epithelial cell apical/basal polarity synapse postsynaptic membrane synaptic vesicle transport inner ear development L27 domain binding MPP7-DLG1-LIN7 complex presynapse protein localization to basolateral plasma membrane uc007gyy.1 uc007gyy.2 uc007gyy.3 
ENSMUST00000020062.4 Gprc6a ENSMUST00000020062.4 G protein-coupled receptor, family C, group 6, member A (from RefSeq NM_153071.1) ENSMUST00000020062.1 ENSMUST00000020062.2 ENSMUST00000020062.3 GPC6A_MOUSE NM_153071 Q5DK51 Q5DK52 Q8K4Z6 uc007fau.1 uc007fau.2 Receptor activated by multiple ligands, including osteocalcin (BGLAP), basic amino acids, and various cations (PubMed:15576628, PubMed:16199532, PubMed:21333348). Activated by amino acids with a preference for basic amino acids such as L-Lys, L-Arg and L-ornithine but also by small and polar amino acids (PubMed:15576628). The L-alpha amino acids respond is augmented by divalent cations Ca(2+) and Mg(2+) (PubMed:16199532). Seems to act through a G(q)/G(11) and G(i)-coupled pathway (PubMed:15576628, PubMed:16199532). Regulates testosterone production by acting as a ligand for uncarboxylated osteocalcin hormone: osteocalcin-binding at the surface of Leydig cells initiates a signaling response that promotes the expression of enzymes required for testosterone synthesis in a CREB-dependent manner (PubMed:21333348). Mediates the non-genomic effects of androgens in multiple tissue (PubMed:19050760). May coordinate nutritional and hormonal anabolic signals through the sensing of extracellular amino acids, osteocalcin, divalent ions and its responsiveness to anabolic steroids (PubMed:19050760, PubMed:20947496). Homodimer; disulfide-linked. Cell membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8K4Z6-1; Sequence=Displayed; Name=2; IsoId=Q8K4Z6-2; Sequence=VSP_016456; Name=3; IsoId=Q8K4Z6-3; Sequence=VSP_016457; Expressed at high level in liver, lung, spleen and heart. Expressed at lower level in kidney, skeletal muscle and brain. Expressed in 7 dpc, 11 dpc, 15 dpc and 17 dpc embryos. N-glycosylated. Deficient mice shown normal body weight, an increased fat mass, decreased lean body, hyperglycemia and insulin resistance, proteinuria, renal calcium, phosphate wasting, impaired bone mineral density and defective testicular function (PubMed:19050760, PubMed:20947496). Conditional deletion in Leydig cells leads to decreased male fertility (PubMed:21333348). Belongs to the G-protein coupled receptor 3 family. G-protein coupled receptor activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway cell surface membrane integral component of membrane calcium-mediated signaling signaling receptor activity response to amino acid uc007fau.1 uc007fau.2 
ENSMUST00000020064.5 Fam162b ENSMUST00000020064.5 family with sequence similarity 162, member B (from RefSeq NM_029894.1) ENSMUST00000020064.1 ENSMUST00000020064.2 ENSMUST00000020064.3 ENSMUST00000020064.4 F162B_MOUSE NM_029894 Q9CX19 uc007fat.1 uc007fat.2 uc007fat.3 uc007fat.4 Membrane ; Single-pass membrane protein Belongs to the UPF0389 family. molecular_function cellular_component biological_process membrane integral component of membrane uc007fat.1 uc007fat.2 uc007fat.3 uc007fat.4 
ENSMUST00000020071.4 Sim1 ENSMUST00000020071.4 single-minded family bHLH transcription factor 1 (from RefSeq NM_011376.3) ENSMUST00000020071.1 ENSMUST00000020071.2 ENSMUST00000020071.3 NM_011376 O70284 P70183 Q61045 SIM1_MOUSE uc007fal.1 uc007fal.2 Transcriptional factor that may have pleiotropic effects during embryogenesis and in the adult. Efficient DNA binding requires dimerization with another bHLH protein. Heterodimer; forms a heterodimer with ARNT, ARNT2. Q61045; P53762: Arnt; NbExp=4; IntAct=EBI-78890, EBI-78852; Nucleus Detected in lung, skeletal muscle and kidney. During fetal development it is found in the CNS, developing kidney, mesodermal and endodermal tissues, including developing somites, mesonephric duct, and foregut. Sequence=AAA91201.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; RNA polymerase II transcription factor activity, sequence-specific DNA binding ureteric bud development DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development nervous system development cell differentiation positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity protein dimerization activity uc007fal.1 uc007fal.2 
ENSMUST00000020081.11 Zwint ENSMUST00000020081.11 ZW10 interactor, transcript variant 2 (from RefSeq NM_001293683.1) D10Ertd749e ENSMUST00000020081.1 ENSMUST00000020081.10 ENSMUST00000020081.2 ENSMUST00000020081.3 ENSMUST00000020081.4 ENSMUST00000020081.5 ENSMUST00000020081.6 ENSMUST00000020081.7 ENSMUST00000020081.8 ENSMUST00000020081.9 NM_001293683 Q3UYT8 Q91VI4 Q9CQU5 Q9D0W9 ZWINT_MOUSE uc007fpa.1 uc007fpa.2 uc007fpa.3 uc007fpa.4 Part of the MIS12 complex, which is required for kinetochore formation and spindle checkpoint activity. Required to target ZW10 to the kinetochore at prometaphase (By similarity). Interacts with ZW10 and MIS12. Interacts with the NDC80 subunit of the NDC80 complex specifically during mitosis. Also interacts with KNL1, CETN3, DSN1 and PMF1 (By similarity). Nucleus Chromosome, centromere, kinetochore Note=Localizes to kinetochores from late prophase to anaphase. mitotic sister chromatid segregation chromosome, centromeric region kinetochore condensed chromosome kinetochore protein binding nucleus nucleoplasm chromosome cytoplasm cytosol cell cycle mitotic cell cycle checkpoint nuclear body dendrite neuron projection intracellular membrane-bounded organelle protein N-terminus binding cell division establishment of localization in cell uc007fpa.1 uc007fpa.2 uc007fpa.3 uc007fpa.4 
ENSMUST00000020085.7 Ube2d1 ENSMUST00000020085.7 ubiquitin-conjugating enzyme E2D 1, transcript variant 6 (from RefSeq NR_185290.1) ENSMUST00000020085.1 ENSMUST00000020085.2 ENSMUST00000020085.3 ENSMUST00000020085.4 ENSMUST00000020085.5 ENSMUST00000020085.6 NR_185290 Q3UFQ4 Q3UFQ4_MOUSE Ube2d1 uc007foo.1 uc007foo.2 uc007foo.3 Belongs to the ubiquitin-conjugating enzyme family. ubiquitin ligase complex nucleotide binding protein polyubiquitination ubiquitin-protein transferase activity ATP binding cytoplasm ubiquitin-dependent protein catabolic process transferase activity positive regulation of protein ubiquitination macromolecular complex ubiquitin conjugating enzyme activity protein K48-linked ubiquitination uc007foo.1 uc007foo.2 uc007foo.3 
ENSMUST00000020090.8 Mrln ENSMUST00000020090.8 myoregulin (from RefSeq NM_001304739.1) ENSMUST00000020090.1 ENSMUST00000020090.2 ENSMUST00000020090.3 ENSMUST00000020090.4 ENSMUST00000020090.5 ENSMUST00000020090.6 ENSMUST00000020090.7 MLN_MOUSE Mln Mrln NM_001304739 Q9CV60 uc007fnp.1 uc007fnp.2 uc007fnp.3 uc007fnp.4 uc007fnp.5 uc007fnp.6 This gene encodes a small peptide that shares structural similarity to the small peptides sarcolipin and phospholamban, which are key regulators of sarcoplasmic reticulum Ca(2+)-ATPases (SERCAs). This protein is thought to have a similar function to these peptides, regulating Ca(2+) reuptake in the sarcoplasmic reticulum by inhibiting the Ca(2+) pump activity of SERCAs. [provided by RefSeq, Feb 2015]. ##Evidence-Data-START## Transcript exon combination :: BX523793.1, AK009351.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Inhibits the activity of ATP2A1/SERCA1 ATPase in sarcoplasmic reticulum by decreasing the apparent affinity of the ATPase for Ca(2+), thereby acting as a key regulator of skeletal muscle activity. Its high expression in adult skeletal muscle, suggests that it constitutes the predominant regulator of ATP2A1/SERCA1 in adult skeletal muscle. Interacts with ATP2A1/SERCA1. Sarcoplasmic reticulum membrane ; Single-pass membrane protein Specifically expressed in all skeletal muscles. Not expressed in cardiac or smooth muscles. During embryogenesis, expressed in the myotomal compartment of the somites and the anlagen of skeletal muscle. During fetal and adult stages, strongly expressed in all skeletal muscles. Not detectable in cardiac or smooth muscles. Expression is regulated by MYEF2 and MYOD1. Mice were born at expected Mendelian ratios and did not show no obvious morphological abnormalities or differences in body or muscle weights. They however show enhanced Ca(2+) handling in skeletal muscle and improved exercise performance. Sequence=BAB26234.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=EDL31981.1; Type=Erroneous gene model prediction; Evidence=; enzyme inhibitor activity protein binding endoplasmic reticulum membrane response to wounding membrane integral component of membrane sarcoplasmic reticulum sarcoplasmic reticulum membrane negative regulation of catalytic activity negative regulation of calcium ion binding negative regulation of calcium-transporting ATPase activity negative regulation of calcium ion import into sarcoplasmic reticulum uc007fnp.1 uc007fnp.2 uc007fnp.3 uc007fnp.4 uc007fnp.5 uc007fnp.6 
ENSMUST00000020094.8 Epyc ENSMUST00000020094.8 epiphycan, transcript variant 1 (from RefSeq NM_007884.2) Dspg3 ENSMUST00000020094.1 ENSMUST00000020094.2 ENSMUST00000020094.3 ENSMUST00000020094.4 ENSMUST00000020094.5 ENSMUST00000020094.6 ENSMUST00000020094.7 EPYC_MOUSE NM_007884 P70186 Pglb uc007gxb.1 uc007gxb.2 May have a role in bone formation and also in establishing the ordered structure of cartilage through matrix organization. Secreted, extracellular space, extracellular matrix. Note=Surrounding resting, proliferating, and hypertrophic chondrocytes. Confined to the middle zone of embryonic epiphyseal cartilage consisting of flattened chondrocytes and the ossifying region in the limb buds of chick embryos. Has also been detected in testis. Expression starts at 12.5 dpc and is restricted to developing cartilage. The O-linked polysaccharide on Ser-96 is probably the mucin type linked to GalNAc. There is one glycosaminoglycan chain, known to be dermatan sulfate, and it is probably the O-glycosylation at Ser-64. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily. extracellular region sensory perception of sound extracellular matrix bone development uc007gxb.1 uc007gxb.2 
ENSMUST00000020099.13 Cdk1 ENSMUST00000020099.13 cyclin dependent kinase 1 (from RefSeq NM_007659.4) CDK1_MOUSE Cdc2 Cdc2a Cdkn1 ENSMUST00000020099.1 ENSMUST00000020099.10 ENSMUST00000020099.11 ENSMUST00000020099.12 ENSMUST00000020099.2 ENSMUST00000020099.3 ENSMUST00000020099.4 ENSMUST00000020099.5 ENSMUST00000020099.6 ENSMUST00000020099.7 ENSMUST00000020099.8 ENSMUST00000020099.9 NM_007659 P11440 P70337 Q3TI12 uc007fmr.1 uc007fmr.2 uc007fmr.3 Plays a key role in the control of the eukaryotic cell cycle by modulating the centrosome cycle as well as mitotic onset; promotes G2-M transition via association with multiple interphase cyclins (PubMed:16007079, PubMed:17700700, PubMed:17942597, PubMed:22405274). Phosphorylates PARVA/actopaxin, APC, AMPH, APC, BARD1, Bcl-xL/BCL2L1, BRCA2, CALD1, CASP8, CDC7, CDC20, CDC25A, CDC25C, CC2D1A, CENPA, CSNK2 proteins/CKII, FZR1/CDH1, CDK7, CEBPB, CHAMP1, DMD/dystrophin, EEF1 proteins/EF-1, EZH2, KIF11/EG5, EGFR, FANCG, FOS, GFAP, GOLGA2/GM130, GRASP1, UBE2A/hHR6A, HIST1H1 proteins/histone H1, HMGA1, HIVEP3/KRC, KAT5, LMNA, LMNB, LMNC, LBR, LATS1, MAP1B, MAP4, MARCKS, MCM2, MCM4, MKLP1, MLST8, MYB, NEFH, NFIC, NPC/nuclear pore complex, PITPNM1/NIR2, NPM1, NCL, NUCKS1, NPM1/numatrin, ORC1, PRKAR2A, EEF1E1/p18, EIF3F/p47, p53/TP53, NONO/p54NRB, PAPOLA, PLEC/plectin, RB1, TPPP, UL40/R2, RAB4A, RAP1GAP, RCC1, RPS6KB1/S6K1, KHDRBS1/SAM68, ESPL1, SKI, BIRC5/survivin, STIP1, TEX14, beta-tubulins, MAPT/TAU, NEDD1, VIM/vimentin, TK1, FOXO1, RUNX1/AML1, SAMHD1, SIRT2, CGAS, ZAR1 and RUNX2 (PubMed:17942597, PubMed:22405274, PubMed:36264786). CDK1/CDC2-cyclin-B controls pronuclear union in interphase fertilized eggs (By similarity). Essential for early stages of embryonic development (By similarity). During G2 and early mitosis, CDC25A/B/C-mediated dephosphorylation activates CDK1/cyclin complexes which phosphorylate several substrates that trigger at least centrosome separation, Golgi dynamics, nuclear envelope breakdown and chromosome condensation (PubMed:16007079, PubMed:17700700). Once chromosomes are condensed and aligned at the metaphase plate, CDK1 activity is switched off by WEE1- and PKMYT1- mediated phosphorylation to allow sister chromatid separation, chromosome decondensation, reformation of the nuclear envelope and cytokinesis (By similarity). Phosphorylates KRT5 during prometaphase and metaphase (PubMed:29518391). Inactivated by PKR/EIF2AK2- and WEE1- mediated phosphorylation upon DNA damage to stop cell cycle and genome replication at the G2 checkpoint thus facilitating DNA repair (By similarity). Reactivated after successful DNA repair through WIP1- dependent signaling leading to CDC25A/B/C-mediated dephosphorylation and restoring cell cycle progression (By similarity). In proliferating cells, CDK1-mediated FOXO1 phosphorylation at the G2-M phase represses FOXO1 interaction with 14-3-3 proteins and thereby promotes FOXO1 nuclear accumulation and transcription factor activity, leading to cell death of postmitotic neurons (By similarity). The phosphorylation of beta-tubulins regulates microtubule dynamics during mitosis (By similarity). NEDD1 phosphorylation promotes PLK1-mediated NEDD1 phosphorylation and subsequent targeting of the gamma-tubulin ring complex (gTuRC) to the centrosome, an important step for spindle formation (By similarity). In addition, CC2D1A phosphorylation regulates CC2D1A spindle pole localization and association with SCC1/RAD21 and centriole cohesion during mitosis (By similarity). The phosphorylation of Bcl-xL/BCL2L1 after prolongated G2 arrest upon DNA damage triggers apoptosis (By similarity). In contrast, CASP8 phosphorylation during mitosis prevents its activation by proteolysis and subsequent apoptosis (By similarity). This phosphorylation occurs in cancer cell lines, as well as in primary breast tissues and lymphocytes (By similarity). EZH2 phosphorylation promotes H3K27me3 maintenance and epigenetic gene silencing (By similarity). CALD1 phosphorylation promotes Schwann cell migration during peripheral nerve regeneration (By similarity). CDK1-cyclin-B complex phosphorylates NCKAP5L and mediates its dissociation from centrosomes during mitosis (By similarity). Regulates the amplitude of the cyclic expression of the core clock gene BMAL1 by phosphorylating its transcriptional repressor NR1D1, and this phosphorylation is necessary for SCF(FBXW7)- mediated ubiquitination and proteasomal degradation of NR1D1 (By similarity). Phosphorylates EML3 at 'Thr-881' which is essential for its interaction with HAUS augmin-like complex and TUBG1 (By similarity). Phosphorylates CGAS during mitosis, leading to its inhibition, thereby preventing CGAS activation by self DNA during mitosis (By similarity). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.22; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.22; Evidence=; Reaction=[DNA-directed RNA polymerase] + ATP = ADP + H(+) + phospho- [DNA-directed RNA polymerase]; Xref=Rhea:RHEA:10216, Rhea:RHEA- COMP:11321, Rhea:RHEA-COMP:11322, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43176, ChEBI:CHEBI:68546, ChEBI:CHEBI:456216; EC=2.7.11.23; Evidence=; Phosphorylation at Thr-14 or Tyr-15 inactivates the enzyme, while phosphorylation at Thr-161 activates it. Forms a stable but non-covalent complex with a regulatory subunit and with a cyclin. Interacts with cyclins-B (CCNB1, CCNB2 and CCNB3) to form a serine/threonine kinase holoenzyme complex also known as maturation promoting factor (MPF). The cyclin subunit imparts substrate specificity to the complex. Can also form CDK1-cylin-D and CDK1-cyclin-E complexes that phosphorylate RB1 in vitro. Binds to RB1 and other transcription factors such as FOXO1 and RUNX2. Promotes G2-M transition when in complex with a cyclin-B. Interacts with DLGAP5. Binds to the CDK inhibitors CDKN1A/p21 and CDKN1B/p27. Isoform 2 is unable to complex with cyclin-B1 and also fails to bind to CDKN1A/p21. Interacts with catalytically active CCNB1 and RALBP1 during mitosis to form an endocytotic complex during interphase. Associates with cyclins- A and B1 during S-phase in regenerating hepatocytes. Interacts with FANCC. Interacts with CEP63; this interaction recruits CDK1 to centrosomes. Interacts with CENPA (By similarity). Interacts with NR1D1 (By similarity). Interacts with proteasome subunit PSMA8; to participate in meiosis progression during spermatogenesis (PubMed:31437213). P11440; P51943: Ccna2; NbExp=2; IntAct=EBI-846949, EBI-846980; P11440; Q61457: Ccne1; NbExp=3; IntAct=EBI-846949, EBI-643090; P11440; P20263: Pou5f1; NbExp=4; IntAct=EBI-846949, EBI-1606219; Nucleus Cytoplasm Mitochondrion Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle Note=Colocalizes with SIRT2 on centrosome during prophase and on splindle fibers during metaphase of the mitotic cell cycle (By similarity). Cytoplasmic during the interphase. Reversibly translocated from cytoplasm to nucleus when phosphorylated before G2-M transition when associated with cyclin-B1. Accumulates in mitochondria in G2- arrested cells upon DNA-damage. Follow a cyclic expression; during interphase, accumulates gradually following G1, S to reach a critical threshold at the end of G2, which promotes self-activation and triggers onset of mitosis. Induced transiently by TGFB1 at an early phase of TGFB1-mediated apoptosis (Probable). Phosphorylation at Thr-161 by CAK/CDK7 activates kinase activity. Phosphorylation at Thr-14 and Tyr-15 by PKMYT1 prevents nuclear translocation. Phosphorylation at Tyr-15 by WEE1 and WEE2 inhibits the protein kinase activity and acts as a negative regulator of entry into mitosis (G2 to M transition). Phosphorylation by PKMYT1 and WEE1 takes place during mitosis to keep CDK1-cyclin-B complexes inactive until the end of G2. By the end of G2, PKMYT1 and WEE1 are inactivated, but CDC25A and CDC25B are activated. Dephosphorylation by active CDC25A and CDC25B at Thr-14 and Tyr-15, leads to CDK1 activation at the G2-M transition. Phosphorylation at Tyr-15 by WEE2 during oogenesis is required to maintain meiotic arrest in oocytes during the germinal vesicle (GV) stage, a long period of quiescence at dictyate prophase I, leading to prevent meiotic reentry. Phosphorylation by WEE2 is also required for metaphase II exit during egg activation to ensure exit from meiosis in oocytes and promote pronuclear formation. Phosphorylated at Tyr-4 by PKR/EIF2AK2 upon genotoxic stress. This phosphorylation triggers CDK1 polyubiquitination and subsequent proteolysis, thus leading to G2 arrest (By similarity). In response to UV irradiation, phosphorylation at Tyr-15 by PRKCD activates the G2/M DNA damage checkpoint. Polyubiquitinated upon genotoxic stress. Embryonic lethality in the first cell divisions. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. nucleotide binding mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex chromatin binding protein kinase activity protein serine/threonine kinase activity cyclin-dependent protein serine/threonine kinase activity protein binding ATP binding nucleus nucleoplasm cytoplasm mitochondrion mitochondrial matrix centrosome microtubule organizing center spindle cytosol cytoskeleton spindle microtubule protein phosphorylation apoptotic process cell cycle mitotic G2 DNA damage checkpoint cell aging cell proliferation RNA polymerase II carboxy-terminal domain kinase activity response to toxic substance response to organonitrogen compound positive regulation of gene expression positive regulation of G2/M transition of mitotic cell cycle response to organic cyclic compound response to amine response to activity kinase activity phosphorylation histone phosphorylation transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation chromosome condensation cyclin binding midbody Hsp70 protein binding epithelial cell differentiation animal organ regeneration protein localization to kinetochore histone kinase activity response to drug response to hydrogen peroxide regulation of circadian rhythm negative regulation of apoptotic process mitotic cell cycle phase transition response to ethanol positive regulation of DNA replication positive regulation of mitotic cell cycle response to cadmium ion response to copper ion rhythmic process response to axon injury cell division ventricular cardiac muscle cell development positive regulation of cardiac muscle cell proliferation macromolecular complex assembly cellular response to hydrogen peroxide mitotic spindle Golgi disassembly cyclin B1-CDK1 complex cyclin-dependent protein kinase activity positive regulation of protein localization to nucleus positive regulation of mitochondrial ATP synthesis coupled electron transport uc007fmr.1 uc007fmr.2 uc007fmr.3 
ENSMUST00000020102.14 Slc17a8 ENSMUST00000020102.14 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8, transcript variant 1 (from RefSeq NM_182959.3) ENSMUST00000020102.1 ENSMUST00000020102.10 ENSMUST00000020102.11 ENSMUST00000020102.12 ENSMUST00000020102.13 ENSMUST00000020102.2 ENSMUST00000020102.3 ENSMUST00000020102.4 ENSMUST00000020102.5 ENSMUST00000020102.6 ENSMUST00000020102.7 ENSMUST00000020102.8 ENSMUST00000020102.9 NM_182959 Q8BFU8 Slc17a8 VGLU3_MOUSE Vglut3 uc007gsk.1 uc007gsk.2 uc007gsk.3 uc007gsk.4 Multifunctional transporter that transports L-glutamate as well as multiple ions such as chloride, sodium and phosphate (PubMed:18215623, PubMed:18080752, PubMed:12384506). At the synaptic vesicle membrane, mainly functions as an uniporter that mediates the uptake of L-glutamate into synaptic vesicles at presynaptic nerve terminals of excitatory neural cells (PubMed:18215623, PubMed:18080752, PubMed:12384506). The L-glutamate uniporter activity is electrogenic and is driven by the proton electrochemical gradient, mainly by the electrical gradient established by the vacuolar H(+)-ATPase across the synaptic vesicle membrane (PubMed:12384506). In addition, functions as a chloride channel that allows a chloride permeation through the synaptic vesicle membrane that affects the proton electrochemical gradient and promotes synaptic vesicles acidification (By similarity). At the plasma membrane, following exocytosis, functions as a symporter of Na(+) and phosphate from the extracellular space to the cytoplasm allowing synaptic phosphate homeostasis regulation (By similarity). The symporter activity is electrogenic (By similarity). Moreover, operates synergistically with SLC18A3/VACHT under a constant H(+) gradient, thereby allowing striatal vesicular acetylcholine uptake (PubMed:18278042). Reaction=L-glutamate(out) = L-glutamate(in); Xref=Rhea:RHEA:66336, ChEBI:CHEBI:29985; Evidence= Reaction=3 Na(+)(out) + phosphate(out) = 3 Na(+)(in) + phosphate(in); Xref=Rhea:RHEA:71255, ChEBI:CHEBI:29101, ChEBI:CHEBI:43474; Evidence=; Reaction=chloride(in) = chloride(out); Xref=Rhea:RHEA:29823, ChEBI:CHEBI:17996; Evidence=; The L-glutamate uniporter activity exhibits a biphasic dependence on chloride concentration. Chloride channel activity is allosterically activated by lumenal H(+) and Cl(-) leading to synaptic vesicles acidification. The L-glutamate transport activity is allosterically activated by lumenal H(+) and Cl(-), preventing non- vesicular L-glutamate release. Kinetic parameters: KM=1.3 mM for L-glutamate ; Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane Cell membrane ; Multi-pass membrane protein Synapse, synaptosome Expressed in restricted areas of the brain. Highest expression is found in the neurons of the basal forebrain, the hippocampal formation, and the majority of the neurons of the mesencephalic raphe nuclei. Expressed in inner hair cells of the ear. Expression peaks at P7 in the brain. Expressed in inner hair cells from 19 dpc onwards. Mice are hyperactive and suffer from intermittent, spontaneous cortical seizures. They exhibit reduced cholinergic transmission in the ventral portion of the striatum and defective acetylcholine release. They are hypersensitive to cocaine and less prone to haloperidol-induced catalepsy. Mice defective in Slc17a8 are profoundly deaf owing to the absence of glutamate release from hair cells at the first synapse in the auditory pathway. They lack auditory-nerve responses to acoustic stimuli, although auditory brainstem responses could be elicited by electrical stimuli. Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. VGLUT subfamily. neural retina development L-glutamate transmembrane transporter activity neurotransmitter transporter activity cytoplasm multivesicular body integral component of plasma membrane ion transport sodium ion transport neurotransmitter transport brain development sensory perception of sound symporter activity L-glutamate transport membrane integral component of membrane cell junction integral component of synaptic vesicle membrane dendrite synaptic vesicle membrane cytoplasmic vesicle synaptic transmission, glutamatergic neuron projection neuronal cell body perikaryon axon terminus synapse regulation of synapse structure or activity transmembrane transport excitatory synapse cochlea development apical dendrite basilar dendrite glial limiting end-foot neurotransmitter loading into synaptic vesicle pericellular basket uc007gsk.1 uc007gsk.2 uc007gsk.3 uc007gsk.4 
ENSMUST00000020107.8 Atp2b1 ENSMUST00000020107.8 ATPase, Ca++ transporting, plasma membrane 1, transcript variant 2 (from RefSeq NM_026482.2) AT2B1_MOUSE Atp2b1 ENSMUST00000020107.1 ENSMUST00000020107.2 ENSMUST00000020107.3 ENSMUST00000020107.4 ENSMUST00000020107.5 ENSMUST00000020107.6 ENSMUST00000020107.7 G5E829 NM_026482 uc007gxf.1 uc007gxf.2 uc007gxf.3 Catalyzes the hydrolysis of ATP coupled with the transport of calcium from the cytoplasm to the extracellular space thereby maintaining intracellular calcium homeostasis (PubMed:22311909, PubMed:16956963, PubMed:28827723, PubMed:26392310, PubMed:29950683, PubMed:24805951, PubMed:23266958). Plays a role in blood pressure regulation through regulation of intracellular calcium concentration and nitric oxide production leading to regulation of vascular smooth muscle cells vasoconstriction (PubMed:24805951, PubMed:29950683, PubMed:22311909). Positively regulates bone mineralization through absorption of calcium from the intestine (PubMed:23266958, PubMed:26392310). Plays dual roles in osteoclast differentiation and survival by regulating RANKL-induced calcium oscillations in preosteoclasts and mediating calcium extrusion in mature osteoclasts (PubMed:23266958). Regulates insulin sensitivity through calcium/calmodulin signaling pathway by regulating AKT1 activation and NOS3 activation in endothelial cells (By similarity). May play a role in synaptic transmission by modulating calcium and proton dynamics at the synaptic vesicles. Reaction=ATP + Ca(2+)(in) + H2O = ADP + Ca(2+)(out) + H(+) + phosphate; Xref=Rhea:RHEA:18105, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29108, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=7.2.2.10; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:18106; Evidence=; Monomer. Dimer. Oligomer. Calmodulin binding. Interacts with PDZD11. Interacts with SLC35G1 and STIM1. Interacts with YWHAE; interacts with the monomeric and dimeric forms of the YWHAE but prefer the monomer form; this interaction inhibits calcium-transporting ATPase activity (By similarity). Interacts with NPTN; this interaction stabilizes ATP2B1 and increases ATPase activity; this interaction controls T cell calcium homeostasis following T cell activation (PubMed:28827723). Interacts with EPB41; regulates small intestinal calcium absorption through regulation of membrane expression of ATP2B1 (PubMed:23460639). Cell membrane ; Multi-pass membrane protein Basolateral cell membrane Synapse Presynaptic cell membrane ; Multi-pass membrane protein Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Multi-pass membrane protein Note=Colocalizes with SV2A in photoreceptor synaptic terminals (PubMed:12209837). Colocalizes with NPTN to the immunological synapse (PubMed:28827723). Colocalizes with EPB41 to the basolateral membrane in enterocyte (PubMed:23460639). Preferentially sorted to recycling synaptic vesicles. Expressed in the retina, with strongest expression in the outer plexiform layer and lower expression levels in the inner nuclear layer and the inner plexiform layer (PubMed:12209837). Specifically expressed in the following retinal cell types: photoreceptor cells, cone bipolar cells and horizontal cells (PubMed:12209837). Expressed in osteoclasts (at protein level) (PubMed:23266958). Expressed at highest levels in brain, intestine, kidney, and stomach, and at lower levels in liver, lung, aorta, portal vein, urinary bladder, diaphragm, seminal vesicles and testes (PubMed:15178683). Expressed in small intestinal epithelium (PubMed:23460639). Up-regulated in differentiating osteoclasts. Up-regulated following T cell activation. Complete embryonic lethality (PubMed:15178683). Mice with conditional knockout of ATP2B1 in enterocytes, are born at a lower frequency and are smaller at birth and into adulthood than wild- type. At two months of age, mice have a decreased bone mineral density (PubMed:26392310). Mice with conditional knockout of ATP2B1 in vascular smooth muscle cells (VSMCs) are born at the expected Mendelian ratio and grow normaly but have a higher blood pressure than wild-type under resting conditions (PubMed:22311909). Heterozygous ATP2B1 mice are hypertensive and exhibit hypocalcemia and a higher bone mineral density (PubMed:29950683). Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily. nucleotide binding immunological synapse negative regulation of cytokine production regulation of vascular smooth muscle contraction neural retina development calcium-transporting ATPase activity protein binding calmodulin binding ATP binding nucleus plasma membrane integral component of plasma membrane ion transport calcium ion transport cellular calcium ion homeostasis brain development aging regulation of blood pressure response to cold cytoplasmic side of plasma membrane calcium ion transmembrane transporter activity membrane integral component of membrane basolateral plasma membrane apical plasma membrane ATPase activity cell junction PDZ domain binding positive regulation of bone mineralization dendrite membrane dendritic spine membrane neuronal cell body membrane membrane raft apical part of cell synapse metal ion binding regulation of cytosolic calcium ion concentration negative regulation of cytosolic calcium ion concentration positive regulation of calcium ion transport calcium ion transmembrane transport cellular response to vitamin D cellular response to corticosterone stimulus glutamatergic synapse GABA-ergic synapse integral component of presynaptic active zone membrane regulation of presynaptic cytosolic calcium ion concentration regulation of cellular response to insulin stimulus calcium ion export calcium-transporting ATPase activity involved in regulation of presynaptic cytosolic calcium ion concentration calcium ion export from cell uc007gxf.1 uc007gxf.2 uc007gxf.3 
ENSMUST00000020109.5 Actr6 ENSMUST00000020109.5 ARP6 actin-related protein 6, transcript variant 1 (from RefSeq NM_025914.3) A0A0R4J009 A0A0R4J009_MOUSE Actr6 ENSMUST00000020109.1 ENSMUST00000020109.2 ENSMUST00000020109.3 ENSMUST00000020109.4 NM_025914 uc007gss.1 uc007gss.2 uc007gss.3 Belongs to the actin family. ARP6 subfamily. nucleus chromatin remodeling uc007gss.1 uc007gss.2 uc007gss.3 
ENSMUST00000020112.7 Bltp3b ENSMUST00000020112.7 bridge-like lipid transfer protein family member 3B (from RefSeq NM_029166.2) A2RSJ4 B2RQV0 BLT3B_MOUSE E9QMH4 ENSMUST00000020112.1 ENSMUST00000020112.2 ENSMUST00000020112.3 ENSMUST00000020112.4 ENSMUST00000020112.5 ENSMUST00000020112.6 Kiaa0701 NM_029166 Q8CHD4 Ship164 Uhrf1bp1l uc007gsv.1 uc007gsv.2 uc007gsv.3 uc007gsv.4 Tube-forming lipid transport protein which mediates the transfer of lipids between membranes at organelle contact sites. Required for retrograde traffic of vesicle clusters in the early endocytic pathway to the Golgi complex. Homodimer (via N-terminus). Associates with the Golgi- associated retrograde protein (GARP) complex. Interacts with GARP complex component VPS52. Interacts (via C-terminal coiled-coil domain) with STX6. Cytoplasm, cytosol Early endosome Note=Localizes on a subpopulation of vesicle clusters in the early endocytic pathway. Sequence=BAC41445.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; cytoplasm endosome early endosome cytosol biological_process protein homodimerization activity uc007gsv.1 uc007gsv.2 uc007gsv.3 uc007gsv.4 
ENSMUST00000020113.15 Poc1b ENSMUST00000020113.15 POC1 centriolar protein B, transcript variant 1 (from RefSeq NM_027740.7) ENSMUST00000020113.1 ENSMUST00000020113.10 ENSMUST00000020113.11 ENSMUST00000020113.12 ENSMUST00000020113.13 ENSMUST00000020113.14 ENSMUST00000020113.2 ENSMUST00000020113.3 ENSMUST00000020113.4 ENSMUST00000020113.5 ENSMUST00000020113.6 ENSMUST00000020113.7 ENSMUST00000020113.8 ENSMUST00000020113.9 NM_027740 POC1B_MOUSE Q8BHD1 Wdr51b uc007gxh.1 uc007gxh.2 uc007gxh.3 Plays an important role in centriole assembly and/or stability and ciliogenesis. Involved in early steps of centriole duplication, as well as in the later steps of centriole length control. Acts in concert with POC1A to ensure centriole integrity and proper mitotic spindle formation. Required for primary cilia formation, ciliary length and also cell proliferation. Required for retinal integrity. Interacts with POC1A. Interacts with FAM161A. Interacts with CEP44; the interaction is direct and recruits POC1B to centriolar microtubules. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole Cytoplasm, cytoskeleton, cilium basal body Cytoplasm, cytoskeleton, spindle pole Note=Component of both mother and daughter centrioles. Localizes to the basal body and centriole adjacent to the connecting cilium of photoreceptors and in synapses of the outer plexiform layer. Expressed in the retina. Phosphorylated in mitotic cells that may be mediated by CDK1. Belongs to the WD repeat POC1 family. spindle pole retina homeostasis molecular_function cytoplasm centrosome centriole cytoskeleton cell proliferation cell projection organization ciliary basal body cell projection cilium assembly uc007gxh.1 uc007gxh.2 uc007gxh.3 
ENSMUST00000020118.5 Dusp6 ENSMUST00000020118.5 dual specificity phosphatase 6 (from RefSeq NM_026268.3) DUS6_MOUSE ENSMUST00000020118.1 ENSMUST00000020118.2 ENSMUST00000020118.3 ENSMUST00000020118.4 Mkp3 NM_026268 Q542I5 Q9D7L4 Q9DBB1 uc007gxk.1 uc007gxk.2 uc007gxk.3 uc007gxk.4 Inactivates MAP kinases. Has a specificity for the ERK family (By similarity). Plays an important role in alleviating acute postoperative pain (PubMed:24155322, PubMed:28405172). Necessary for the normal dephosphorylation of the long-lasting phosphorylated forms of spinal MAPK1/3 and MAP kinase p38 induced by peripheral surgery, which drives the resolution of acute postoperative allodynia (PubMed:24155322). Also important for dephosphorylation of MAPK1/3 in local wound tissue, which further contributes to resolution of acute pain (PubMed:28405172). Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48; Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16; Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA- COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16; Interacts with MAPK1/ERK2. Q9DBB1; P63085: Mapk1; NbExp=2; IntAct=EBI-7812384, EBI-397697; Cytoplasm Up-regulated in local wound tissue 5-7 days after surgical incision. Mice exhibit a persistent state of mechanical allodynia following plantar incision (PubMed:24155322, PubMed:28405172). This allodynia phenotype is concurrent with long- lasting spinal phosphorylation of MAPK1/3 and MAP kinase p38 (PubMed:24155322). Tissue at the local incision site also shows prolonged expression of phosphorylated MAPK1/3 which persists through to post-operative day 12, although levels of phosphorylated MAP kinase p38 are normal (PubMed:28405172). Belongs to the protein-tyrosine phosphatase family. Non- receptor class dual specificity subfamily. inactivation of MAPK activity negative regulation of protein phosphorylation phosphoprotein phosphatase activity protein tyrosine phosphatase activity protein binding cytoplasm cytosol protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity response to organic substance positive regulation of cell death response to organic cyclic compound dephosphorylation hydrolase activity phosphatase activity MAP kinase tyrosine/serine/threonine phosphatase activity cell differentiation peptidyl-tyrosine dephosphorylation response to drug positive regulation of apoptotic process response to nitrosative stress regulation of heart growth negative regulation of ERK1 and ERK2 cascade response to growth factor uc007gxk.1 uc007gxk.2 uc007gxk.3 uc007gxk.4 
ENSMUST00000020123.7 Tmpo ENSMUST00000020123.7 thymopoietin, transcript variant 1 (from RefSeq NM_011605.3) B2RUB9 ENSMUST00000020123.1 ENSMUST00000020123.2 ENSMUST00000020123.3 ENSMUST00000020123.4 ENSMUST00000020123.5 ENSMUST00000020123.6 LAP2A_MOUSE Lap2 NM_011605 Q61028 Q61033 uc007gtv.1 uc007gtv.2 uc007gtv.3 uc007gtv.4 May be involved in the structural organization of the nucleus and in the post-mitotic nuclear assembly. Plays an important role, together with LMNA, in the nuclear anchorage of RB1 (By similarity). Homooligomer. Interacts with LMNA, BANF1 and RB1 and with chromosomes. Associates directly or indirectly with lamins at specific cell-cycle stages (By similarity). Interacts with CMTM6 (By similarity). Q61033-1; Q61033-1: Tmpo; NbExp=3; IntAct=EBI-15641551, EBI-15641551; Nucleus Chromosome Note=Expressed diffusely throughout the nucleus. Event=Alternative splicing; Named isoforms=6; Name=Alpha; IsoId=Q61033-1; Sequence=Displayed; Name=Zeta; IsoId=Q61033-2; Sequence=VSP_010128, VSP_010129; Name=Beta; IsoId=Q61029-1; Sequence=External; Name=Delta; IsoId=Q61029-2; Sequence=External; Name=Epsilon; IsoId=Q61029-3; Sequence=External; Name=Gamma; IsoId=Q61029-4; Sequence=External; The N-terminal part contains two structurally independent, non- interacting domains: LEM-like (also called LAP2-N or LEM-D) and LEM (also called LAP2-C or LEM-B). LEM-like binds DNA while LEM interacts with BANF1 (By similarity). The C-terminal domain forms a four-stranded coiled coil. Phosphorylated in a mitose-specific manner. Belongs to the LEM family. chromatin DNA binding protein binding nucleus nuclear envelope nuclear inner membrane chromosome regulation of transcription, DNA-templated nuclear membrane identical protein binding endoplasmic reticulum membrane uc007gtv.1 uc007gtv.2 uc007gtv.3 uc007gtv.4 
ENSMUST00000020145.12 Sgk1 ENSMUST00000020145.12 serum/glucocorticoid regulated kinase 1, transcript variant 6 (from RefSeq NM_011361.3) ENSMUST00000020145.1 ENSMUST00000020145.10 ENSMUST00000020145.11 ENSMUST00000020145.2 ENSMUST00000020145.3 ENSMUST00000020145.4 ENSMUST00000020145.5 ENSMUST00000020145.6 ENSMUST00000020145.7 ENSMUST00000020145.8 ENSMUST00000020145.9 NM_011361 Q3TJN4 Q3UKD0 Q3UKF2 Q3V1V1 Q6NS85 Q9WVC6 SGK1_MOUSE Sgk uc007eox.1 uc007eox.2 uc007eox.3 uc007eox.4 This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. This enzyme is activated by protein phosphorylation and degraded via the ubiquitination and proteasome pathway. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene was identified on chromosome 12. [provided by RefSeq, Sep 2009]. Serine/threonine-protein kinase which is involved in the regulation of a wide variety of ion channels, membrane transporters, cellular enzymes, transcription factors, neuronal excitability, cell growth, proliferation, survival, migration and apoptosis. Plays an important role in cellular stress response. Contributes to regulation of renal Na(+) retention, renal K(+) elimination, salt appetite, gastric acid secretion, intestinal Na(+)/H(+) exchange and nutrient transport, insulin-dependent salt sensitivity of blood pressure, salt sensitivity of peripheral glucose uptake, cardiac repolarization and memory consolidation. Up-regulates Na(+) channels: SCNN1A/ENAC, SCN5A and ASIC1/ACCN2, K(+) channels: KCNJ1/ROMK1, KCNA1-5, KCNQ1-5 and KCNE1, epithelial Ca(2+) channels: TRPV5 and TRPV6, chloride channels: BSND, CLCN2 and CFTR, glutamate transporters: SLC1A3/EAAT1, SLC1A2 /EAAT2, SLC1A1/EAAT3, SLC1A6/EAAT4 and SLC1A7/EAAT5, amino acid transporters: SLC1A5/ASCT2, SLC38A1/SN1 and SLC6A19, creatine transporter: SLC6A8, Na(+)/dicarboxylate cotransporter: SLC13A2/NADC1, Na(+)-dependent phosphate cotransporter: SLC34A2/NAPI-2B, glutamate receptor: GRIK2/GLUR6. Up-regulates carriers: SLC9A3/NHE3, SLC12A1/NKCC2, SLC12A3/NCC, SLC5A3/SMIT, SLC2A1/GLUT1, SLC5A1/SGLT1 and SLC15A2/PEPT2. Regulates enzymes: GSK3A/B, PMM2 and Na(+)/K(+) ATPase, and transcription factors: CTNNB1 and nuclear factor NF-kappa-B. Stimulates sodium transport into epithelial cells by enhancing the stability and expression of SCNN1A/ENAC. This is achieved by phosphorylating the NEDD4L ubiquitin E3 ligase, promoting its interaction with 14-3-3 proteins, thereby preventing it from binding to SCNN1A/ENAC and targeting it for degradation. Regulates store-operated Ca(+2) entry (SOCE) by stimulating ORAI1 and STIM1. Regulates KCNJ1/ROMK1 directly via its phosphorylation or indirectly via increased interaction with SLC9A3R2/NHERF2. Phosphorylates MDM2 and activates MDM2-dependent ubiquitination of p53/TP53. Phosphorylates MAPT/TAU and mediates microtubule depolymerization and neurite formation in hippocampal neurons. Phosphorylates SLC2A4/GLUT4 and up- regulates its activity. Phosphorylates APBB1/FE65 and promotes its localization to the nucleus. Phosphorylates MAPK1/ERK2 and activates it by enhancing its interaction with MAP2K1/MEK1 and MAP2K2/MEK2. Phosphorylates FBXW7 and plays an inhibitory role in the NOTCH1 signaling. Phosphorylates FOXO1 resulting in its relocalization from the nucleus to the cytoplasm. Phosphorylates FOXO3, promoting its exit from the nucleus and interference with FOXO3-dependent transcription. Phosphorylates BRAF and MAP3K3/MEKK3 and inhibits their activity. Phosphorylates SLC9A3/NHE3 in response to dexamethasone, resulting in its activation and increased localization at the cell membrane. Phosphorylates CREB1. Necessary for vascular remodeling during angiogenesis. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Two specific sites, one in the kinase domain (Thr- 256) and the other in the C-terminal regulatory region (Ser-422), need to be phosphorylated for its full activation (By similarity). Phosphorylation at Ser-397 and Ser-401 are also essential for its activity (By similarity). Activated by WNK1, WNK2, WNK3 and WNK4; which promote phosphorylation by mTORC2 (PubMed:20525693). Homodimer; disulfide-linked. Interacts with MAPK3/ERK1, MAPK1/ERK2, MAP2K1/MEK1, MAP2K2/MEK2, NEDD4, NEDD4L, MAPT/TAU, MAPK7, CREB1, SLC9A3R2/NHERF2 and KCNJ1/ROMK1 (By similarity). Forms a trimeric complex with FBXW7 and NOTCH1 Associates with the mammalian target of rapamycin complex 2 (mTORC2) via an interaction with MAPKAP1/SIN1. Q9WVC6; Q99N57: Raf1; NbExp=2; IntAct=EBI-15591730, EBI-397757; Q9WVC6; Q9Z2S7-3: Tsc22d3; NbExp=2; IntAct=EBI-15591730, EBI-15771036; Cytoplasm Nucleus Endoplasmic reticulum membrane Cell membrane Mitochondrion Note=The subcellular localization is controlled by the cell cycle, as well as by exposure to specific hormones and environmental stress stimuli. In proliferating cells, it shuttles between the nucleus and cytoplasm in synchrony with the cell cycle, and in serum/growth factor-stimulated cells it resides in the nucleus. In contrast, after exposure to environmental stress or treatment with glucocorticoids, it is detected in the cytoplasm and with certain stress conditions is associated with the mitochondria. In osmoregulation through the epithelial sodium channel, it can be localized to the cytoplasmic surface of the cell membrane. Nuclear, upon phosphorylation (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9WVC6-1; Sequence=Displayed; Name=2; IsoId=Q9WVC6-2; Sequence=VSP_037788; Name=3; IsoId=Q9WVC6-3; Sequence=VSP_037789; Up-regulated by tumor suppressor p53 in mammary epithelial tumor cells. Regulated by phosphorylation. Activated by phosphorylation on Ser- 422 by mTORC2, transforming it into a substrate for PDPK1 which phosphorylates it on Thr-256. Phosphorylation on Ser-397 and Ser-401 are also essential for its activity. Phosphorylation on Ser-78 by MAPK7 is required for growth factor-induced cell cycle progression (By similarity). Ubiquitinated by NEDD4L; which promotes proteasomal degradation. Ubiquitinated by SYVN1 at the endoplasmic reticulum; which promotes rapid proteasomal degradation and maintains a high turnover rate in resting cells (By similarity). Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Sequence=AAH70401.1; Type=Erroneous initiation; Evidence=; nucleotide binding protein kinase activity protein serine/threonine kinase activity protein serine/threonine/tyrosine kinase activity protein binding ATP binding nucleus cytoplasm mitochondrion endoplasmic reticulum endoplasmic reticulum membrane cytosol plasma membrane protein phosphorylation cellular sodium ion homeostasis apoptotic process cellular response to DNA damage stimulus microtubule depolymerization long-term memory visual learning positive regulation of sodium ion transport potassium channel regulator activity membrane kinase activity phosphorylation nuclear speck transferase activity peptidyl-serine phosphorylation positive regulation of cell growth negative regulation of microtubule polymerization cellular response to insulin stimulus regulation of protein localization intracellular signal transduction neuron projection negative regulation of apoptotic process glucocorticoid mediated signaling pathway 3-phosphoinositide-dependent protein kinase binding cofactor binding tau protein binding perinuclear region of cytoplasm neuron projection morphogenesis positive regulation of dendrite morphogenesis regulation of cell cycle uc007eox.1 uc007eox.2 uc007eox.3 uc007eox.4 
ENSMUST00000020149.6 Ikbip ENSMUST00000020149.6 IKBKB interacting protein, transcript variant 1 (from RefSeq NM_026166.2) E9QMH7 E9QMH7_MOUSE ENSMUST00000020149.1 ENSMUST00000020149.2 ENSMUST00000020149.3 ENSMUST00000020149.4 ENSMUST00000020149.5 Ikbip NM_026166 uc007gtl.1 uc007gtl.2 uc007gtl.3 endoplasmic reticulum uc007gtl.1 uc007gtl.2 uc007gtl.3 
ENSMUST00000020157.13 Apaf1 ENSMUST00000020157.13 apoptotic peptidase activating factor 1, transcript variant 1 (from RefSeq NM_001042558.1) A2RRK8 APAF_MOUSE ENSMUST00000020157.1 ENSMUST00000020157.10 ENSMUST00000020157.11 ENSMUST00000020157.12 ENSMUST00000020157.2 ENSMUST00000020157.3 ENSMUST00000020157.4 ENSMUST00000020157.5 ENSMUST00000020157.6 ENSMUST00000020157.7 ENSMUST00000020157.8 ENSMUST00000020157.9 NM_001042558 O88879 uc007gtg.1 uc007gtg.2 uc007gtg.3 Oligomeric Apaf-1 mediates the cytochrome c-dependent autocatalytic activation of pro-caspase-9 (Apaf-3), leading to the activation of caspase-3 and apoptosis. This activation requires ATP (By similarity). Monomer. Oligomerizes to a heptameric ring, known as the apoptosome, upon binding of cytochrome c and dATP. Oligomeric Apaf-1 and pro-caspase-9 bind to each other via their respective NH2-terminal CARD domains and consecutively mature caspase-9 is released from the complex (By similarity). Interacts with UACA. It may also interact with Bcl-XL. Interacts with APIP. Interacts (via CARD and NACHT domains) with NAIP/BIRC1 (via NACHT domain) (By similarity). Interacts with CIAO2A (By similarity). Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Apaf-1L; IsoId=O88879-1; Sequence=Displayed; Name=2; IsoId=O88879-2; Sequence=VSP_006763; Highly expressed in lung and spleen, weakly in brain and kidney and not detectable in liver. High levels in embryonic brain and liver from 11.5 dpc to 17.5 dpc. The CARD domain mediates interaction with APIP. The monomeric form is autoinhibited in a closed conformation through a bound ADP at the nucleotide binding site. Exchange of ADP for ATP and binding of cytochrome c trigger a large conformational change where the first WD repeat region swings out, allowing the NB-ARC domain to rotate and expose the contact areas for oligomerization. Physiological concentrations of calcium ions negatively affect the assembly of apoptosome by inhibiting nucleotide exchange in the monomeric form. [Isoform 1]: Major isoform. nucleotide binding response to hypoxia kidney development neural tube closure ATP binding nucleus cytoplasm cytosol apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process multicellular organism development brain development aging response to nutrient activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c cysteine-type endopeptidase activator activity involved in apoptotic process cardiac muscle cell apoptotic process cell differentiation forebrain development heat shock protein binding macromolecular complex identical protein binding regulation of apoptotic process apoptosome ADP binding protein homooligomerization neuron apoptotic process intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress cellular response to transforming growth factor beta stimulus apoptotic signaling pathway regulation of apoptotic DNA fragmentation positive regulation of apoptotic signaling pathway uc007gtg.1 uc007gtg.2 uc007gtg.3 
ENSMUST00000020158.9 Myb ENSMUST00000020158.9 myeloblastosis oncogene, transcript variant 2 (from RefSeq NM_010848.3) E9QMG8 ENSMUST00000020158.1 ENSMUST00000020158.2 ENSMUST00000020158.3 ENSMUST00000020158.4 ENSMUST00000020158.5 ENSMUST00000020158.6 ENSMUST00000020158.7 ENSMUST00000020158.8 MYB_MOUSE NM_010848 P06876 Q61929 uc007eog.1 uc007eog.2 uc007eog.3 Transcriptional activator; DNA-binding protein that specifically recognize the sequence 5'-YAAC[GT]G-3'. Plays an important role in the control of proliferation and differentiation of hematopoietic progenitor cells. Binds to HIPK1 (By similarity). Interacts with HIPK2, MAF, MYBBP1A and NLK. P06876; Q9QZR5: Hipk2; NbExp=2; IntAct=EBI-366934, EBI-366905; P06876; P38531: HSF3; Xeno; NbExp=2; IntAct=EBI-366934, EBI-16212976; Nucleus Comprised of 3 domains; an N-terminal DNA-binding domain, a centrally located transcriptional activation domain and a C-terminal domain involved in transcriptional repression. C-terminal truncated mutants display increased transactivation. SUMOylated by TRAF7; leading to MYB transcriptional activity inhibition. Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation. Phosphorylated by NLK on multiple sites, which induces proteasomal degradation. Phosphorylated by HIPK1. This phosphorylation reduces MYB transcription factor activity but not MYB protein levels (By similarity). G1/S transition of mitotic cell cycle negative regulation of transcription from RNA polymerase II promoter mitotic cell cycle RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding in utero embryonic development DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytosol chromatin remodeling regulation of transcription, DNA-templated calcium ion transport regulation of gene expression stem cell division myeloid cell differentiation B cell differentiation positive regulation of T-helper cell differentiation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter spleen development thymus development embryonic digestive tract development homeostasis of number of cells positive regulation of histone H3-K4 methylation positive regulation of histone H3-K9 methylation cellular response to interleukin-6 WD40-repeat domain binding cellular response to leukemia inhibitory factor uc007eog.1 uc007eog.2 uc007eog.3 
ENSMUST00000020159.15 Med23 ENSMUST00000020159.15 mediator complex subunit 23, transcript variant 2 (from RefSeq NM_027347.4) Crsp3 ENSMUST00000020159.1 ENSMUST00000020159.10 ENSMUST00000020159.11 ENSMUST00000020159.12 ENSMUST00000020159.13 ENSMUST00000020159.14 ENSMUST00000020159.2 ENSMUST00000020159.3 ENSMUST00000020159.4 ENSMUST00000020159.5 ENSMUST00000020159.6 ENSMUST00000020159.7 ENSMUST00000020159.8 ENSMUST00000020159.9 Kiaa1216 MED23_MOUSE NM_027347 Q6ZPV7 Q80YQ2 Q8CEC3 Q8K587 Q9CXY8 Sur2 uc007erf.1 uc007erf.2 uc007erf.3 uc007erf.4 Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional pre-initiation complex with RNA polymerase II and the general transcription factors (By similarity). Also required for transcriptional activation subsequent to the assembly of the pre- initiation complex. Required for transcriptional activation by adenovirus E1A protein. Required for ELK1-dependent transcriptional activation in response to activated Ras signaling. Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP. Interacts with CEBPB (when not methylated), CTNNB1, and GLI3. Interacts with CDK8 and ELK1. Nucleus Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q80YQ2-1; Sequence=Displayed; Name=2; IsoId=Q80YQ2-2; Sequence=VSP_028382; Name=3; IsoId=Q80YQ2-3; Sequence=VSP_041583, VSP_041584; [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Belongs to the Mediator complex subunit 23 family. Sequence=AAM28897.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=BAB29019.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAC26001.1; Type=Erroneous translation; Note=Wrong choice of CDS.; Evidence=; Sequence=BAC98122.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; ubiquitin ligase complex nucleus nucleoplasm transcription factor complex regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter positive regulation of gene expression protein ubiquitination mediator complex positive regulation of T cell extravasation ubiquitin protein ligase activity uc007erf.1 uc007erf.2 uc007erf.3 uc007erf.4 
ENSMUST00000020161.10 Arg1 ENSMUST00000020161.10 arginase, liver (from RefSeq NM_007482.3) ARGI1_MOUSE ENSMUST00000020161.1 ENSMUST00000020161.2 ENSMUST00000020161.3 ENSMUST00000020161.4 ENSMUST00000020161.5 ENSMUST00000020161.6 ENSMUST00000020161.7 ENSMUST00000020161.8 ENSMUST00000020161.9 NM_007482 Q3TB74 Q3UEL0 Q4FK78 Q61176 Q80VI4 uc007erg.1 uc007erg.2 uc007erg.3 uc007erg.4 Key element of the urea cycle converting L-arginine to urea and L-ornithine, which is further metabolized into metabolites proline and polyamides that drive collagen synthesis and bioenergetic pathways critical for cell proliferation, respectively; the urea cycle takes place primarily in the liver and, to a lesser extent, in the kidneys. Functions in L-arginine homeostasis in nonhepatic tissues characterized by the competition between nitric oxide synthase (NOS) and arginase for the available intracellular substrate arginine. Arginine metabolism is a critical regulator of innate and adaptive immune responses. Involved in an antimicrobial effector pathway in polymorphonuclear granulocytes (PMN). Upon PMN cell death is liberated from the phagolysosome and depletes arginine in the microenvironment leading to suppressed T cell and natural killer (NK) cell proliferation and cytokine secretion (By similarity). In group 2 innate lymphoid cells (ILC2s) promotes acute type 2 inflammation in the lung and is involved in optimal ILC2 proliferation but not survival (PubMed:27043409). Plays a role in the immune response of alternatively activated or M2 macrophages in processes such as wound healing and tissue regeneration, immune defense against multicellular pathogens and parasites, and immune suppression and allergic inflammation; the regulatory outcome seems to be organ specific (PubMed:7537672, PubMed:19360123, PubMed:20483789, PubMed:23552798, PubMed:23637937). In tumor-infiltrating dendritic cells (DCs) and myeloid-derived suppressor cells (MDSCs) plays a role in suppression of T cell-mediated antitumor immunity (PubMed:19414774, PubMed:23248265). Reaction=H2O + L-arginine = L-ornithine + urea; Xref=Rhea:RHEA:20569, ChEBI:CHEBI:15377, ChEBI:CHEBI:16199, ChEBI:CHEBI:32682, ChEBI:CHEBI:46911; EC=3.5.3.1; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 manganese ions per subunit. Nitrogen metabolism; urea cycle; L-ornithine and urea from L- arginine: step 1/1. Homotrimer (By similarity). Interacts with CMTM6 (By similarity). Cytoplasm Cytoplasmic granule Expressed in macrophages (PubMed:7537672, PubMed:12193690, PubMed:19360123). Expressed in precursor and mature group 2 innate lymphoid cells (ILC2s) (PubMed:27043409). Expressed in lung tumor-associated myeloid cells (PubMed:15313928). Expressed in lung tumor-infiltrating dendritic cells (PubMed:19414774). By T helper 2 (Th2) cytokines such as IL-4, IL-13 and IL-10. In tumor-infiltrating dendritic cells by prostaglandin E2. Belongs to the arginase family. Sequence=BAE28901.1; Type=Erroneous initiation; Evidence=; urea cycle liver development positive regulation of endothelial cell proliferation adaptive immune response immune system process arginase activity extracellular space cytoplasm mitochondrial outer membrane cytosol arginine metabolic process female pregnancy aging response to wounding response to herbicide response to manganese ion response to zinc ion response to selenium ion regulation of L-arginine import response to amine hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines arginine catabolic process to ornithine manganese ion binding lung development response to lipopolysaccharide collagen biosynthetic process response to vitamin A response to vitamin E negative regulation of T cell proliferation response to drug defense response to protozoan neuron projection neuronal cell body response to amino acid response to peptide hormone innate immune response negative regulation of activated T cell proliferation response to cadmium ion metal ion binding response to steroid hormone response to axon injury response to methylmercury mammary gland involution maternal process involved in female pregnancy negative regulation of interferon-gamma-mediated signaling pathway protein homotrimerization cellular response to hydrogen peroxide positive regulation of neutrophil mediated killing of fungus cellular response to lipopolysaccharide cellular response to interleukin-4 cellular response to glucagon stimulus cellular response to dexamethasone stimulus cellular response to transforming growth factor beta stimulus negative regulation of T-helper 2 cell cytokine production uc007erg.1 uc007erg.2 uc007erg.3 uc007erg.4 
ENSMUST00000020163.7 Nedd1 ENSMUST00000020163.7 neural precursor cell expressed, developmentally down-regulated gene 1 (from RefSeq NM_008682.2) ENSMUST00000020163.1 ENSMUST00000020163.2 ENSMUST00000020163.3 ENSMUST00000020163.4 ENSMUST00000020163.5 ENSMUST00000020163.6 NEDD1_MOUSE NM_008682 Nedd-1 P33215 Q6NXV3 Q8BN12 Q8BN86 Q8BQL9 Q9CWK2 uc007gud.1 uc007gud.2 uc007gud.3 uc007gud.4 Required for mitosis progression. Promotes the nucleation of microtubules from the spindle (By similarity). May play an important role during the embryonic development and differentiation of the central nervous system (PubMed:1378265). Interacts with FAM29A. Interacts with HSPA1A and HSPA1B. Interacts with gamma-tubulin in a HSPA1A/B-dependent manner. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P33215-1; Sequence=Displayed; Name=2; IsoId=P33215-2; Sequence=VSP_016263, VSP_016264; Down-regulated during the development of brain. During mitosis, prior phosphorylation on Thr-550 by CDK1 promotes subsequent phosphorylation by PLK1 on Ser-397, Ser-426 and Ser-637. Phosphorylated NEDD1 can interact with gamma-tubulin for targeting the gamma-tubulin ring complex (gTuRC) to the centrosome, an important step for spindle formation. [Isoform 2]: May be due to intron retention. pericentriolar material spindle pole gamma-tubulin ring complex, centrosomal cytoplasm centrosome centriole microtubule organizing center cytoskeleton microtubule depolymerization cell cycle microtubule polymerization or depolymerization ciliary basal body apical part of cell cell division regulation of establishment of protein localization protein localization to centrosome uc007gud.1 uc007gud.2 uc007gud.3 uc007gud.4 
ENSMUST00000020165.14 Pde7b ENSMUST00000020165.14 phosphodiesterase 7B, transcript variant 2 (from RefSeq NM_013875.6) A1L3T2 ENSMUST00000020165.1 ENSMUST00000020165.10 ENSMUST00000020165.11 ENSMUST00000020165.12 ENSMUST00000020165.13 ENSMUST00000020165.2 ENSMUST00000020165.3 ENSMUST00000020165.4 ENSMUST00000020165.5 ENSMUST00000020165.6 ENSMUST00000020165.7 ENSMUST00000020165.8 ENSMUST00000020165.9 NM_013875 PDE7B_MOUSE Pde7b Q9QXQ1 uc007eob.1 uc007eob.2 uc007eob.3 uc007eob.4 Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes (PubMed:10872825). May be involved in the control of cAMP-mediated neural activity and cAMP metabolism in the brain (By similarity). Reaction=3',5'-cyclic AMP + H2O = AMP + H(+); Xref=Rhea:RHEA:25277, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:58165, ChEBI:CHEBI:456215; EC=3.1.4.53; Evidence=; Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240; Evidence=; Note=Binds 2 divalent metal cations per subunit (By similarity). Site 1 may preferentially bind zinc ions, while site 2 has a preference for magnesium and/or manganese ions (By similarity). ; Inhibited by dipyridamole, IBMX and SCH 51866. Insensitive to zaprinast, rolipram, and milrinone. Kinetic parameters: KM=0.1 uM for 3',5'-cyclic AMP ; Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1. Highly expressed in brain. Composed of a C-terminal catalytic domain containing two putative divalent metal sites and an N-terminal regulatory domain. Belongs to the cyclic nucleotide phosphodiesterase family. PDE7 subfamily. 3',5'-cyclic-nucleotide phosphodiesterase activity 3',5'-cyclic-AMP phosphodiesterase activity cAMP catabolic process signal transduction phosphoric diester hydrolase activity hydrolase activity metal ion binding uc007eob.1 uc007eob.2 uc007eob.3 uc007eob.4 
ENSMUST00000020169.9 Enpp3 ENSMUST00000020169.9 ectonucleotide pyrophosphatase/phosphodiesterase 3 (from RefSeq NM_134005.2) E9QMU8 ENPP3_MOUSE ENSMUST00000020169.1 ENSMUST00000020169.2 ENSMUST00000020169.3 ENSMUST00000020169.4 ENSMUST00000020169.5 ENSMUST00000020169.6 ENSMUST00000020169.7 ENSMUST00000020169.8 NM_134005 Q6DYE8 uc007era.1 uc007era.2 uc007era.3 Hydrolase that metabolizes extracellular nucleotides, including ATP, GTP, UTP and CTP (By similarity). Limits mast cell and basophil responses during inflammation and during the chronic phases of allergic responses by eliminating the extracellular ATP that functions as signaling molecule and activates basophils and mast cells and induces the release of inflammatory cytokines (PubMed:25692702). Metabolizes extracellular ATP in the lumen of the small intestine, and thereby prevents ATP-induced apoptosis of intestinal plasmacytoid dendritic cells (PubMed:28225814). Has also alkaline phosphodiesterase activity (By similarity). Reaction=Hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of 3'-hydroxy-terminated oligonucleotides.; EC=3.1.4.1; Evidence=; Reaction=a ribonucleoside 5'-triphosphate + H2O = a ribonucleoside 5'- phosphate + diphosphate + H(+); Xref=Rhea:RHEA:23996, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:58043, ChEBI:CHEBI:61557; EC=3.6.1.9; Evidence=; Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + H2O = a 2'- deoxyribonucleoside 5'-phosphate + diphosphate + H(+); Xref=Rhea:RHEA:44644, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:65317; EC=3.6.1.9; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 zinc ions per subunit. ; Monomer and homodimer. Cell membrane ; Single-pass type II membrane protein Apical cell membrane ; Single-pass type II membrane protein Secreted Note=Detected at the cell surface of basophils (PubMed:25692702). Detected at the apical plasma membrane of bile duct cells. Located to the apical surface in intestinal and kidney epithelial cells. Secreted in serum, and in lumen of epithelial cells (By similarity). Detected at the tip of villi in the small intestine (PubMed:28225814). Detected on basophils and mast cells (at protein level) (PubMed:25692702). Detected in the epithelial layer of the small intestine; expression is higher in the proximal part and lower in the distal part of the small intestine (PubMed:28225814). In bone marrow-derived mast cells and basophils, induced by activation of the high affinity immunoglobulin epsilon receptor 1 (Fc epsilon RI). N-glycosylated. N-glycosylation is necessary for normal transport to the cell membrane, but is not the apical targeting signal. Mice appear healthy, and have normal numbers of peripheral lymphocytes, eosinophils and neutrophils. Basophil numbers are normal in bone marrow, but are markedly increased in peripheral blood and spleen. Likewise, mutant mice have an increased number of mast cells in the small and large intestine. Both mast cells and basophils show increased proliferation in response to extracellular ATP. Mutant mice display normal immediate reaction to allergens, but strongly increased chronic allergic inflammation in skin, intestine and lung that lead to severe tissue damage. Extracellular ATP levels are normal in the absence of allergen, and strongly increased after exposure to allergen, due to impaired clearance of extracellular ATP (PubMed:25692702). Mutant mice display increased levels of extracellular ATP in the lumen of the small intestine. They have decreased numbers of plasmacytoid dendritic cells in the small intestine lamia propria and in Peyer patches; the decrease is due to increased ATP levels that cause increased apoptosis of plasmacytoid dendritic cells (PubMed:28225814). basophil activation involved in immune response nucleic acid binding catalytic activity phosphodiesterase I activity nucleotide diphosphatase activity scavenger receptor activity calcium ion binding extracellular region plasma membrane pyrimidine nucleotide metabolic process phosphate-containing compound metabolic process endocytosis immune response metabolic process zinc ion binding nucleoside triphosphate catabolic process external side of plasma membrane membrane integral component of membrane apical plasma membrane hydrolase activity polysaccharide binding negative regulation of mast cell activation involved in immune response NADH pyrophosphatase activity ATP metabolic process metal ion binding nucleoside-triphosphate diphosphatase activity perinuclear region of cytoplasm negative regulation of inflammatory response negative regulation of mast cell proliferation nucleic acid phosphodiester bond hydrolysis uc007era.1 uc007era.2 uc007era.3 
ENSMUST00000020171.12 Ccn2 ENSMUST00000020171.12 cellular communication network factor 2 (from RefSeq NM_010217.2) CCN2_MOUSE Ccn2 Ctgf ENSMUST00000020171.1 ENSMUST00000020171.10 ENSMUST00000020171.11 ENSMUST00000020171.2 ENSMUST00000020171.3 ENSMUST00000020171.4 ENSMUST00000020171.5 ENSMUST00000020171.6 ENSMUST00000020171.7 ENSMUST00000020171.8 ENSMUST00000020171.9 Fisp-12 Fisp12 G5E830 Hcs24 NM_010217 P29268 Q922U0 betaIG-M2 uc011xbr.1 uc011xbr.2 uc011xbr.3 uc011xbr.4 Major connective tissue mitoattractant secreted by vascular endothelial cells. Promotes proliferation and differentiation of chondrocytes (By similarity). Mediates heparin- and divalent cation- dependent cell adhesion in many cell types including fibroblasts, myofibroblasts, endothelial and epithelial cells (By similarity). Enhances fibroblast growth factor-induced DNA synthesis (By similarity). Monomer (By similarity). Interacts with TSKU (PubMed:30232710). Secreted, extracellular space, extracellular matrix Secreted Testis, spleen, kidney, lung, heart, and brain (lowest level in testis and highest in lung). By growth factors. Belongs to the CCN family. cartilage condensation ossification angiogenesis tissue homeostasis positive regulation of protein phosphorylation fibronectin binding integrin binding insulin-like growth factor binding extracellular region extracellular space cis-Golgi network cytosol cell cortex cell adhesion cell-matrix adhesion integrin-mediated signaling pathway aging protein C-terminus binding growth factor activity heparin binding positive regulation of cell proliferation fibroblast growth factor receptor signaling pathway response to glucose positive regulation of gene expression negative regulation of gene expression positive regulation of cell death response to organic cyclic compound cell migration cell differentiation lung development extracellular matrix regulation of chondrocyte differentiation response to estradiol positive regulation of collagen biosynthetic process response to anoxia intracellular signal transduction chondrocyte proliferation response to amino acid positive regulation of cysteine-type endopeptidase activity involved in apoptotic process response to peptide hormone positive regulation of cell differentiation positive regulation of JNK cascade perinuclear region of cytoplasm positive regulation of cell activation response to mineralocorticoid positive regulation of stress fiber assembly cytosolic calcium ion transport positive regulation of cardiac muscle contraction negative regulation of cell death connective tissue development extracellular matrix constituent secretion positive regulation of G0 to G1 transition positive regulation of ERK1 and ERK2 cascade response to fatty acid DNA biosynthetic process reactive oxygen species metabolic process uc011xbr.1 uc011xbr.2 uc011xbr.3 uc011xbr.4 
ENSMUST00000020182.16 Pex7 ENSMUST00000020182.16 peroxisomal biogenesis factor 7, transcript variant 1 (from RefSeq NM_008822.2) A2RSR2 ENSMUST00000020182.1 ENSMUST00000020182.10 ENSMUST00000020182.11 ENSMUST00000020182.12 ENSMUST00000020182.13 ENSMUST00000020182.14 ENSMUST00000020182.15 ENSMUST00000020182.2 ENSMUST00000020182.3 ENSMUST00000020182.4 ENSMUST00000020182.5 ENSMUST00000020182.6 ENSMUST00000020182.7 ENSMUST00000020182.8 ENSMUST00000020182.9 NM_008822 P97865 PEX7_MOUSE Pex7 uc007enl.1 uc007enl.2 uc007enl.3 uc007enl.4 Receptor required for the peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal (PubMed:9090381, PubMed:12915479). Specifically binds to cargo proteins containing a PTS2 peroxisomal targeting signal in the cytosol (By similarity). Cargo protein-binding triggers interaction with PEX5 and formation of a ternary complex composed of PEX5 and PEX7 along with PTS2-containing cargo proteins, which is tranlocated into peroxisomes by passing through the PEX13-PEX14 docking complex (By similarity). Interacts with PEX5; interaction only takes place when PEX7 is associated with cargo proteins (By similarity). Interacts with VWA8 (By similarity). Cytoplasm, cytosol Peroxisome matrix Note=Translocated into the peroxisome matrix together with PTS2-containing cargo proteins and PEX5. Mice were born alive, but display a variable degree of dwarfism and hypotonia with decreased motility, hampering their feeding (PubMed:12915479). Perinatal lethality is frequent, although some mice survive beyond 18 months (PubMed:12915479). In the intermediate zone of the developing cerebral cortex, increased neuronal density is observed (PubMed:12915479). Increased neuronal density is caused by defects in neuronal migration (PubMed:12915479). Mice also show defects in ossification of distal bone elements of the limbs as well as parts of the skull and vertebrae (PubMed:12915479). Cells display normal peroxisome assembly, but show impaired peroxisomal import of proteins containing a C-terminal PTS2-type peroxisomal targeting signal (PubMed:12915479). Biochemically, cells show severe depletion of plasmalogens, impaired alpha-oxidation of phytanic acid and impaired beta-oxidation of very-long-chain fatty acids (PubMed:12915479). Belongs to the WD repeat peroxin-7 family. neuron migration endochondral ossification peroxisome matrix targeting signal-2 binding cytoplasm peroxisome peroxisomal matrix cytosol protein targeting to peroxisome fatty acid beta-oxidation peroxisome organization ether lipid biosynthetic process protein transport protein import into peroxisome matrix enzyme binding protein homodimerization activity uc007enl.1 uc007enl.2 uc007enl.3 uc007enl.4 
ENSMUST00000020185.5 Il20ra ENSMUST00000020185.5 interleukin 20 receptor, alpha (from RefSeq NM_172786.2) ENSMUST00000020185.1 ENSMUST00000020185.2 ENSMUST00000020185.3 ENSMUST00000020185.4 I20RA_MOUSE NM_172786 Q6PHB0 Q8BW64 uc007eni.1 uc007eni.2 uc007eni.3 The IL20RA/IL20RB dimer is a receptor for IL19, IL20 and IL24. The IL20RA/IL10RB dimer is a receptor for IL26 (By similarity). Heterodimer with IL20RB and heterodimer with IL10RB. Membrane ; Single-pass type I membrane protein Belongs to the type II cytokine receptor family. cytokine receptor activity plasma membrane membrane integral component of membrane cytokine-mediated signaling pathway interleukin-20 binding regulation of bone resorption positive regulation of intrinsic apoptotic signaling pathway uc007eni.1 uc007eni.2 uc007eni.3 
ENSMUST00000020188.13 Ifngr1 ENSMUST00000020188.13 interferon gamma receptor 1 (from RefSeq NM_010511.3) ENSMUST00000020188.1 ENSMUST00000020188.10 ENSMUST00000020188.11 ENSMUST00000020188.12 ENSMUST00000020188.2 ENSMUST00000020188.3 ENSMUST00000020188.4 ENSMUST00000020188.5 ENSMUST00000020188.6 ENSMUST00000020188.7 ENSMUST00000020188.8 ENSMUST00000020188.9 INGR1_MOUSE Ifngr Ifngr1 NM_010511 P15261 Q91Y85 uc007eng.1 uc007eng.2 uc007eng.3 Receptor subunit for interferon gamma/INFG that plays crucial roles in antimicrobial, antiviral, and antitumor responses by activating effector immune cells and enhancing antigen presentation (, PubMed:20926559, PubMed:27286456). Associates with transmembrane accessory factor IFNGR2 to form a functional receptor (PubMed:2530582, PubMed:2532365, PubMed:2137461, PubMed:2531896, PubMed:2530216). Upon ligand binding, the intracellular domain of IFNGR1 opens out to allow association of downstream signaling components JAK1 and JAK2. In turn, activated JAK1 phosphorylates IFNGR1 to form a docking site for STAT1. Subsequent phosphorylation of STAT1 leads to its dimerization, translocation to the nucleus, and stimulation of target gene transcription (PubMed:19889125). STAT3 can also be activated in a similar manner although activation seems weaker (PubMed:15284232). IFNGR1 intracellular domain phosphorylation also provides a docking site for SOCS1 that regulates the JAK-STAT pathway by competing with STAT1 binding to IFNGR1 (PubMed:15522878). Monomer. Heterodimer with IFNGR2, to form the IFNG receptor complex. Interacts with JAK1. Interacts (when phosphorylated) with STAT1 (By similarity). Interacts with SOCS1 (PubMed:15522878). Cell membrane ingle-pass type I membrane protein Phosphorylated at Ser/Thr residues. Phosphorylation of Tyr-445 is required for IFNG receptor signal transduction. Influenza virus infection leads to phosphorylation in a CSNK1A1-dependent manner. Ubiquitinated after phosphorylation in a CSNK1A1-dependent manner, leading to the lysosome-dependent degradation. Proteasomally degraded through 'Lys-48'-mediated ubiquitination. Ubiquitination is necessary for efficient IFNGR1 signaling. Deletion mutants show shortened lifespan and enhanced intestinal tumorigenesis. These tumors exhibit increased inflammation (PubMed:27286456). Loss of STAT1 signaling pathway activation is also observed (PubMed:19889125). After viral infection such as junin virus, mice develop disseminated infection and severe disease (PubMed:20926559). Belongs to the type II cytokine receptor family. Sequence=AAA37895.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; microglial cell activation cytokine receptor activity endoplasmic reticulum plasma membrane positive regulation of gene expression postsynaptic density membrane integral component of membrane cytokine-mediated signaling pathway cytokine binding dendrite vesicle astrocyte activation defense response to virus negative regulation of beta-amyloid clearance positive regulation of beta-amyloid formation positive regulation of tumor necrosis factor secretion positive regulation of NMDA glutamate receptor activity uc007eng.1 uc007eng.2 uc007eng.3 
ENSMUST00000020190.8 Vnn3 ENSMUST00000020190.8 vanin 3 (from RefSeq NM_011979.2) E9QMT9 ENSMUST00000020190.1 ENSMUST00000020190.2 ENSMUST00000020190.3 ENSMUST00000020190.4 ENSMUST00000020190.5 ENSMUST00000020190.6 ENSMUST00000020190.7 NM_011979 Q9QZ25 VNN3_MOUSE uc007eqb.1 uc007eqb.2 uc007eqb.3 Cell membrane ; Lipid-anchor, GPI- anchor Note=According to PubMed:11491533, secreted. Ubiquitous with higher expression in liver. Belongs to the carbon-nitrogen hydrolase superfamily. BTD/VNN family. Sequence=CAB59323.1; Type=Erroneous initiation; Evidence=; extracellular space plasma membrane nitrogen compound metabolic process pantothenate metabolic process membrane hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides pantetheine hydrolase activity anchored component of membrane uc007eqb.1 uc007eqb.2 uc007eqb.3 
ENSMUST00000020203.7 Snrpf ENSMUST00000020203.7 small nuclear ribonucleoprotein polypeptide F (from RefSeq NM_027246.1) ENSMUST00000020203.1 ENSMUST00000020203.2 ENSMUST00000020203.3 ENSMUST00000020203.4 ENSMUST00000020203.5 ENSMUST00000020203.6 NM_027246 Q497K3 Q497K3_MOUSE Snrpf uc007guw.1 uc007guw.2 uc007guw.3 uc007guw.4 Nucleus Belongs to the snRNP Sm proteins family. SmF/LSm6 subfamily. spliceosomal snRNP assembly mRNA splicing, via spliceosome RNA binding nucleus spliceosomal complex U7 snRNP U1 snRNP U4 snRNP U12-type spliceosomal complex small nucleolar ribonucleoprotein complex cytosol mRNA processing RNA splicing small nuclear ribonucleoprotein complex methylosome pICln-Sm protein complex SMN-Sm protein complex U4/U6 x U5 tri-snRNP complex U2-type precatalytic spliceosome U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome uc007guw.1 uc007guw.2 uc007guw.3 uc007guw.4 
ENSMUST00000020204.5 Ntn4 ENSMUST00000020204.5 netrin 4 (from RefSeq NM_021320.3) E9QMT3 ENSMUST00000020204.1 ENSMUST00000020204.2 ENSMUST00000020204.3 ENSMUST00000020204.4 NET4_MOUSE NM_021320 Q9JI33 uc007gux.1 uc007gux.2 uc007gux.3 uc007gux.4 May play an important role in neural, kidney and vascular development. Promotes neurite elongation from olfactory bulb explants. May form a homodimer. Q9JI33; P02468: Lamc1; NbExp=2; IntAct=EBI-15755373, EBI-7059830; Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component. Expressed in kidney, liver, heart, ovary, testis, retina, brain, olfactory bulb, and widely expressed in embryo. protein binding extracellular region basement membrane plasma membrane animal organ morphogenesis tissue development neuron remodeling cell migration substrate adhesion-dependent cell spreading laminin-1 binding laminin complex regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling basement membrane assembly uc007gux.1 uc007gux.2 uc007gux.3 uc007gux.4 
ENSMUST00000020208.5 Fgd6 ENSMUST00000020208.5 FYVE, RhoGEF and PH domain containing 6 (from RefSeq NM_053072.3) ENSMUST00000020208.1 ENSMUST00000020208.2 ENSMUST00000020208.3 ENSMUST00000020208.4 FGD6_MOUSE Kiaa1362 NM_053072 Q69ZL1 Q8C8W5 Q8K3B0 Q9D3Y7 uc011xlz.1 uc011xlz.2 May activate CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. May play a role in regulating the actin cytoskeleton and cell shape (By similarity). Cytoplasm Cytoplasm, cytoskeleton Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q69ZL1-1; Sequence=Displayed; Name=2; IsoId=Q69ZL1-2; Sequence=VSP_013093; Sequence=BAD32435.1; Type=Erroneous initiation; Evidence=; molecular_function guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity cellular_component cytoplasm cytoskeleton biological_process regulation of Rho protein signal transduction regulation of GTPase activity metal ion binding uc011xlz.1 uc011xlz.2 
ENSMUST00000020209.16 Ndufa12 ENSMUST00000020209.16 NADH:ubiquinone oxidoreductase subunit A12, transcript variant 1 (from RefSeq NM_025551.4) ENSMUST00000020209.1 ENSMUST00000020209.10 ENSMUST00000020209.11 ENSMUST00000020209.12 ENSMUST00000020209.13 ENSMUST00000020209.14 ENSMUST00000020209.15 ENSMUST00000020209.2 ENSMUST00000020209.3 ENSMUST00000020209.4 ENSMUST00000020209.5 ENSMUST00000020209.6 ENSMUST00000020209.7 ENSMUST00000020209.8 ENSMUST00000020209.9 NDUAC_MOUSE NM_025551 Q3TIA0 Q7TMF3 uc007gvq.1 uc007gvq.2 uc007gvq.3 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Complex I is composed of 45 different subunits. Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side Belongs to the complex I NDUFA12 subunit family. Sequence=BAB26955.2; Type=Erroneous initiation; Evidence=; molecular_function mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I cytosol response to oxidative stress NADH dehydrogenase (ubiquinone) activity electron carrier activity membrane mitochondrial ATP synthesis coupled electron transport oxidation-reduction process respiratory chain uc007gvq.1 uc007gvq.2 uc007gvq.3 
ENSMUST00000020212.6 Cep83 ENSMUST00000020212.6 centrosomal protein 83 (from RefSeq NM_029852.2) CEP83_MOUSE Ccdc41 ENSMUST00000020212.1 ENSMUST00000020212.2 ENSMUST00000020212.3 ENSMUST00000020212.4 ENSMUST00000020212.5 NM_029852 Q3U7X7 Q3UX57 Q80VF0 Q9D5R3 uc007gvx.1 uc007gvx.2 uc007gvx.3 Component of the distal appendage region of the centriole involved in the initiation of primary cilium assembly. May collaborate with IFT20 in the trafficking of ciliary membrane proteins from the Golgi complex to the cilium during the initiation of primary cilium assembly. Interacts with CEP164 and IFT20. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole Note=Localizes specifically to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane. Localizes to centrioles at all stages of the cell cycle, including mitosis. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9D5R3-1; Sequence=Displayed; Name=2; IsoId=Q9D5R3-2; Sequence=VSP_018333; Belongs to the CEP83 family. molecular_function cytoplasm Golgi apparatus centriole cytoskeleton cell projection organization vesicle docking establishment of centrosome localization cilium assembly protein localization to centrosome ciliary transition fiber uc007gvx.1 uc007gvx.2 uc007gvx.3 
ENSMUST00000020215.16 Socs2 ENSMUST00000020215.16 suppressor of cytokine signaling 2, transcript variant 1 (from RefSeq NM_007706.4) Cish2 ENSMUST00000020215.1 ENSMUST00000020215.10 ENSMUST00000020215.11 ENSMUST00000020215.12 ENSMUST00000020215.13 ENSMUST00000020215.14 ENSMUST00000020215.15 ENSMUST00000020215.2 ENSMUST00000020215.3 ENSMUST00000020215.4 ENSMUST00000020215.5 ENSMUST00000020215.6 ENSMUST00000020215.7 ENSMUST00000020215.8 ENSMUST00000020215.9 NM_007706 Q548Q7 Q548Q7_MOUSE Socs2 uc007gwg.1 uc007gwg.2 uc007gwg.3 Protein modification; protein ubiquitination. regulation of cell growth insulin-like growth factor receptor binding cytoplasm JAK pathway signal transduction adaptor activity protein ubiquitination response to estradiol cellular response to hormone stimulus intracellular signal transduction negative regulation of JAK-STAT cascade growth hormone receptor signaling pathway uc007gwg.1 uc007gwg.2 uc007gwg.3 
ENSMUST00000020217.7 Nudt4 ENSMUST00000020217.7 nudix hydrolase 4, transcript variant 2 (from RefSeq NM_027722.5) Dipp2 ENSMUST00000020217.1 ENSMUST00000020217.2 ENSMUST00000020217.3 ENSMUST00000020217.4 ENSMUST00000020217.5 ENSMUST00000020217.6 NM_027722 NUDT4_MOUSE Nudt4 Q8BXB9 Q8R2U6 Q9D3T6 uc007gwp.1 uc007gwp.2 uc007gwp.3 uc007gwp.4 Cleaves a beta-phosphate from the diphosphate groups in PP- InsP5 (diphosphoinositol pentakisphosphate), PP-InsP4 and [PP]2-InsP4 (bisdiphosphoinositol tetrakisphosphate), suggesting that it may play a role in signal transduction (By similarity). Can also catalyze the hydrolysis of diadenosine 5',5'''-P1,P6-hexaphosphate (Ap6A) but not diadenosine 5',5'''-P1,P5-pentaphosphate (Ap5A) and the major reaction products are ADP and p4a from Ap6A (By similarity). Also able to hydrolyze 5-phosphoribose 1-diphosphate (By similarity). Does not play a role in U8 snoRNA decapping activity (PubMed:16141072). Binds U8 snoRNA (PubMed:16141072). Reaction=diphospho-myo-inositol polyphosphate + H2O = myo-inositol polyphosphate + phosphate.; EC=3.6.1.52; Evidence=; Reaction=5-diphospho-1D-myo-inositol 1,2,3,4,6-pentakisphosphate + H2O = 1D-myo-inositol hexakisphosphate + H(+) + phosphate; Xref=Rhea:RHEA:22384, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:43474, ChEBI:CHEBI:58130, ChEBI:CHEBI:58628; EC=3.6.1.52; Evidence=; Reaction=3,5-bis(diphospho)-1D-myo-inositol 1,2,4,6-tetrakisphosphate + H2O = 3-diphospho-1D-myo-inositol 1,2,4,5,6-pentakisphosphate + 2 H(+) + phosphate; Xref=Rhea:RHEA:56312, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:43474, ChEBI:CHEBI:140372, ChEBI:CHEBI:140374; EC=3.6.1.52; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 3 Mg(2+) or Mn(2+) ions per subunit. ; Cytoplasm Belongs to the Nudix hydrolase family. DIPP subfamily. endopolyphosphatase activity RNA binding nucleus cytoplasm cytosol diphosphoinositol-polyphosphate diphosphatase activity hydrolase activity snoRNA binding bis(5'-adenosyl)-hexaphosphatase activity bis(5'-adenosyl)-pentaphosphatase activity metal ion binding m7G(5')pppN diphosphatase activity inositol diphosphate tetrakisphosphate diphosphatase activity inositol diphosphate pentakisphosphate diphosphatase activity diphosphoinositol polyphosphate metabolic process diadenosine pentaphosphate catabolic process diadenosine hexaphosphate catabolic process adenosine 5'-(hexahydrogen pentaphosphate) catabolic process uc007gwp.1 uc007gwp.2 uc007gwp.3 uc007gwp.4 
ENSMUST00000020220.15 Nuak1 ENSMUST00000020220.15 NUAK family, SNF1-like kinase, 1 (from RefSeq NM_001004363.2) ENSMUST00000020220.1 ENSMUST00000020220.10 ENSMUST00000020220.11 ENSMUST00000020220.12 ENSMUST00000020220.13 ENSMUST00000020220.14 ENSMUST00000020220.2 ENSMUST00000020220.3 ENSMUST00000020220.4 ENSMUST00000020220.5 ENSMUST00000020220.6 ENSMUST00000020220.7 ENSMUST00000020220.8 ENSMUST00000020220.9 Kiaa0537 NM_001004363 NUAK1_MOUSE Omphk1 Q641K5 Q6I6D6 Q8CGE1 uc007gko.1 uc007gko.2 uc007gko.3 uc007gko.4 Serine/threonine-protein kinase involved in various processes such as cell adhesion, regulation of cell ploidy and senescence, cell proliferation and tumor progression. Phosphorylates ATM, CASP6, LATS1, PPP1R12A and p53/TP53. Acts as a regulator of cellular senescence and cellular ploidy by mediating phosphorylation of 'Ser-464' of LATS1, thereby controlling its stability. Controls cell adhesion by regulating activity of the myosin protein phosphatase 1 (PP1) complex. Acts by mediating phosphorylation of PPP1R12A subunit of myosin PP1: phosphorylated PPP1R12A then interacts with 14-3-3, leading to reduced dephosphorylation of myosin MLC2 by myosin PP1. May be involved in DNA damage response: phosphorylates p53/TP53 at 'Ser-15' and 'Ser-392' and is recruited to the CDKN1A/WAF1 promoter to participate in transcription activation by p53/TP53. May also act as a tumor malignancy-associated factor by promoting tumor invasion and metastasis under regulation and phosphorylation by AKT1. Suppresses Fas-induced apoptosis by mediating phosphorylation of CASP6, thereby suppressing the activation of the caspase and the subsequent cleavage of CFLAR. Regulates UV radiation-induced DNA damage response mediated by CDKN1A. In association with STK11, phosphorylates CDKN1A in response to UV radiation and contributes to its degradation which is necessary for optimal DNA repair. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Activated by phosphorylation on Thr-212. Activated by phosphorylation at Ser-601 AKT1 during glucose starvation; the relevance of such activation in normal cells is however unsure (By similarity). Interacts (via GILK motif) with PPP1CB; the interaction is direct and bridges NUAK1 and PPP1R12A. Interacts with CDKN1A. Nucleus Cytoplasm Expressed in the developing central nervous system, in epidermis, and some other tissues. At 7.5 dpc, expressed in allantois and anterior visceral endoderm. In the embryonic part, present in mesoderm migrating laterally but not in the primitive streak; the expression is not apparent in ectoderm or endoderm at this stage. At 8.5 dpc, no expression is found in mesodermal tissues, while it is expressed in midbrain and isthmic regions of the neuroectoderm; it is also found in the pharyngeal region of the foregut. At 9.5 dpc, the expression is found throughout the undifferentiated neuroectoderm, except the telencephalic region. The expression is also ubiquitous in the epidermis; it is especially apparent in the ventral body wall. Also expressed in dorsal root ganglia of neural crest origin. The expression persists in the anterior gut and is also found in bulb arteriosus, kidney, and several connective tissues. At 12.5 dpc, the expression is greatly reduced in most of the neuroectoderm, but some expression remains in pons, anterior tectum, tegmentum, pretectum, prethalamus, mammillary region and hypothalamus. In telencephalon, expression is present in the differentiating preplate of the cortex. The expression is sustained in the epidermis of the whole body. In 14.5 and 18.5 dpc brain, expressed in differentiated fields of the cortex; no significant expression is found in other parts of brain or in the spinal cord. The expression is also present in a variety of connective tissues and in the epidermis of the whole body. The GILK motif mediates interaction with PPP1CB. Phosphorylated at Thr-212 by STK11/LKB1 in complex with STE20- related adapter-alpha (STRADA) pseudo kinase and CAB39. Not dephosphorylated by the myosin PP1 complex when regulating its activity, due to the presence of PPP1R12A, which prevents myosin PP1 from dephosphorylating NUAK1. Phosphorylated by STK38L upon stimulation with IGF1 (By similarity). Ubiquitinated with 'Lys-29'- and 'Lys-33'-linked polyubiquitins which appear to impede LKB1-mediated phosphorylation. Deubiquitinated by USP9X (By similarity). Lethal during development, no live-born. At 18.5 dpc, homozygous mutants suffer from omphalocele with a failure in closure of the secondary body wall leading to organs outside of the abdomen. Omphalocele are apparent at 14.5 dpc when the physiological hernia is almost rectified in wild-type embryos. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. SNF1 subfamily. nucleotide binding fibrillar center p53 binding protein kinase activity protein serine/threonine kinase activity ATP binding nucleus cytoplasm protein phosphorylation cellular response to DNA damage stimulus cell adhesion microtubule cytoskeleton kinase activity phosphorylation transferase activity regulation of cell adhesion regulation of myosin-light-chain-phosphatase activity intracellular signal transduction regulation of cellular senescence uc007gko.1 uc007gko.2 uc007gko.3 uc007gko.4 
ENSMUST00000020223.8 Tcp11l2 ENSMUST00000020223.8 t-complex 11 (mouse) like 2 (from RefSeq NM_146008.2) ENSMUST00000020223.1 ENSMUST00000020223.2 ENSMUST00000020223.3 ENSMUST00000020223.4 ENSMUST00000020223.5 ENSMUST00000020223.6 ENSMUST00000020223.7 NM_146008 Q8C2D5 Q8K1H7 T11L2_MOUSE Tcp11l2 uc007gks.1 uc007gks.2 uc007gks.3 Promotes the migration of muscle-derived satellite cells (MDSCs) during differentiation throught interaction with FMNL2 and therefore may participate in microfilament assembly. Interacts with FMNL2; this interaction promotes muscle-derived satellite cell (MDSC) migration and differentiation. Cytoplasm, cytoskeleton Note=Accumulates around the actin complex before the formation of microfilament bundles and microtubule extension. Belongs to the TCP11 family. Sequence=BAC40581.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; molecular_function cellular_component biological_process uc007gks.1 uc007gks.2 uc007gks.3 
ENSMUST00000020227.11 Cry1 ENSMUST00000020227.11 cryptochrome circadian regulator 1 (from RefSeq NM_007771.3) CRY1_MOUSE ENSMUST00000020227.1 ENSMUST00000020227.10 ENSMUST00000020227.2 ENSMUST00000020227.3 ENSMUST00000020227.4 ENSMUST00000020227.5 ENSMUST00000020227.6 ENSMUST00000020227.7 ENSMUST00000020227.8 ENSMUST00000020227.9 NM_007771 P97784 uc007gle.1 uc007gle.2 uc007gle.3 This gene encodes a flavin adenine dinucleotide-binding protein that is a key component of the circadian core oscillator complex, which regulates the circadian clock. This gene is upregulated by Clock/Arntl heterodimers but then represses this upregulation in a feedback loop using Per/Cry heterodimers to interact with Clock/Arntl. Polymorphisms in this gene have been associated with altered sleep patterns. The encoded protein is widely conserved across plants and animals. Loss of this gene results in a shortened circadian cycle in complete darkness. [provided by RefSeq, Feb 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC085499.1, AK133818.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post- translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and BMAL1 or BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-BMAL1|BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress BMAL1 transcription, respectively. CRY1 and CRY2 have redundant functions but also differential and selective contributions at least in defining the pace of the SCN circadian clock and its circadian transcriptional outputs. More potent transcriptional repressor in cerebellum and liver than CRY2, though more effective in lengthening the period of the SCN oscillator. On its side, CRY2 seems to play a critical role in tuning SCN circadian period by opposing the action of CRY1. With CRY2, is dispensable for circadian rhythm generation but necessary for the development of intercellular networks for rhythm synchrony. Capable of translocating circadian clock core proteins such as PER proteins to the nucleus. Interacts with CLOCK-BMAL1 independently of PER proteins and is found at CLOCK-BMAL1-bound sites, suggesting that CRY may act as a molecular gatekeeper to maintain CLOCK-BMAL1 in a poised and repressed state until the proper time for transcriptional activation. Represses the CLOCK-BMAL1 induced transcription of BHLHE40/DEC1, ATF4, MTA1, KLF10 and NAMPT. May repress circadian target genes expression in collaboration with HDAC1 and HDAC2 through histone deacetylation. Mediates the clock-control activation of ATR and modulates ATR-mediated DNA damage checkpoint. In liver, mediates circadian regulation of cAMP signaling and gluconeogenesis by binding to membrane-coupled G proteins and blocking glucagon-mediated increases in intracellular cAMP concentrations and CREB1 phosphorylation. Inhibits hepatic gluconeogenesis by decreasing nuclear FOXO1 levels that down-regulates gluconeogenic gene expression. Besides its role in the maintenance of the circadian clock, is also involved in the regulation of other processes. Represses glucocorticoid receptor NR3C1/GR-induced transcriptional activity by binding to glucocorticoid response elements (GREs). Plays a key role in glucose and lipid metabolism modulation, in part, through the transcriptional regulation of genes involved in these pathways, such as LEP or ACSL4. Represses PPARD and its target genes in the skeletal muscle and limits exercise capacity (PubMed:28683290). Plays an essential role in the generation of circadian rhythms in the retina (PubMed:29561690). Represses the transcriptional activity of NR1I2 (PubMed:28751364). Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Note=Binds 1 FAD per subunit. Only a minority of the protein molecules contain bound FAD. Contrary to the situation in photolyases, the FAD is bound in a shallow, surface-exposed pocket. ; Name=(6R)-5,10-methylene-5,6,7,8-tetrahydrofolate; Xref=ChEBI:CHEBI:15636; Evidence=; Note=Binds 1 5,10-methenyltetrahydrofolate (MTHF) non-covalently per subunit. ; KL001 (N-[3-(9H-carbazol-9-yl)-2-hydroxypropyl]-N- (2-furanylmethyl)-methanesulfonamide) binds to CRY1 and stabilizes it by inhibiting FBXL3- and ubiquitin-dependent degradation of CRY1 resulting in lengthening of the circadian periods. KL001-mediated CRY1 stabilization can inhibit glucagon-induced gluconeogenesis in primary hepatocytes. Component of the circadian core oscillator, which includes the CRY proteins, CLOCK or NPAS2, BMAL1 or BMAL2, CSNK1D and/or CSNK1E, TIMELESS, and the PER proteins (PubMed:11779462). Interacts directly with TIMELESS (PubMed:10428031, PubMed:24489120, PubMed:23418588). Interacts directly with PER1 and PER2; interaction with PER2 inhibits its ubiquitination and vice versa (PubMed:10428031, PubMed:11889036, PubMed:11875063, PubMed:14701732, PubMed:16478995, PubMed:23746849, PubMed:23418588, PubMed:21613214, PubMed:20159955). Interacts with PER3 (PubMed:10428031, PubMed:14701732). Interacts with FBXL21 (PubMed:18953409, PubMed:23452855, PubMed:23452856). Interacts with FBXL3 (PubMed:17462724, PubMed:23746849, PubMed:23452855, PubMed:23452856, PubMed:30500822). Interacts with PPP5C (via TPR repeats) (By similarity). Interacts with CLOCK-BMAL1 independently of PER2 and DNA (PubMed:21613214). Interacts with HDAC1, HDAC2 and SIN3B (PubMed:15226430). Interacts with nuclear receptors AR, NR1D1, NR3C1/GR, RORA and RORC; the interaction with at least NR3C1/GR is ligand dependent (PubMed:22170608, PubMed:28751364). Interacts with PRKDC (PubMed:24158435). Interacts with the G protein subunit alpha GNAS; the interaction may block GPCR-mediated regulation of cAMP concentrations (By similarity). Interacts with PRMT5 (PubMed:23133559). Interacts with EZH2 (PubMed:16717091). Interacts with MYBBP1A, DOCK7, HNRNPU, RPL7A, RPL8 and RPS3 (PubMed:19129230). Interacts with MAP1LC3B (PubMed:29937374). Interacts with CLOCK (PubMed:16717091, PubMed:19917250). Interacts with BMAL1 (PubMed:26776516, PubMed:16717091, PubMed:19917250, PubMed:23746849). Interacts weakly with HDAC3; this interaction is enhanced in the presence of FBXL3 (PubMed:26776516). Interacts with TRIM28, KCTD5 and DDB1 (PubMed:27123980). Interacts with DTL (By similarity). Interacts with DDB1-CUL4A complex (PubMed:26431207). Interacts with FOXO1 (PubMed:28790135). Interacts with PSMD2 in a KDM8-dependent manner (PubMed:30500822). Interacts with KDM8 in a FBXL3-dependent manner (PubMed:30500822). Interacts with PPARA (PubMed:28683290). Interacts with PPARG in a ligand-dependent manner (PubMed:28683290). Interacts with PPARD (via domain NR LBD) in a ligand-dependent manner (PubMed:28683290, PubMed:28751364). Interacts with NR1I2 (via domain NR LBD) in a ligand-dependent manner (PubMed:28751364). Interacts with NR1I3, VDR and HNF4A (PubMed:28751364). P97784; Q9WTL8: Bmal1; NbExp=23; IntAct=EBI-1266607, EBI-644534; P97784; Q9WTL8-2: Bmal1; NbExp=4; IntAct=EBI-1266607, EBI-644559; P97784; Q9WTL8-4: Bmal1; NbExp=4; IntAct=EBI-1266607, EBI-644568; P97784; Q2VPD4: Bmal2; NbExp=3; IntAct=EBI-1266607, EBI-9696862; P97784; O08785: Clock; NbExp=10; IntAct=EBI-1266607, EBI-79859; P97784; P67871: Csnk2b; NbExp=4; IntAct=EBI-1266607, EBI-348179; P97784; Q8BFZ4: Fbxl21; NbExp=10; IntAct=EBI-1266607, EBI-6898235; P97784; Q8C4V4: Fbxl3; NbExp=12; IntAct=EBI-1266607, EBI-1266589; P97784; P06537-1: Nr3c1; NbExp=3; IntAct=EBI-1266607, EBI-15959147; P97784; O35973: Per1; NbExp=3; IntAct=EBI-1266607, EBI-1266764; P97784; O54943: Per2; NbExp=22; IntAct=EBI-1266607, EBI-1266779; P97784; Q8CIG8: Prmt5; NbExp=2; IntAct=EBI-1266607, EBI-2527009; P97784; P67870: CSNK2B; Xeno; NbExp=2; IntAct=EBI-1266607, EBI-348169; Cytoplasm Nucleus Note=Transloctaed to the nucleus through interaction with other clock proteins such as PER2 or BMAL1. Expressed in cones, amacrine cells, and retinal ganglion cells of the retina (at protein level) (PubMed:29561690). Expressed in all tissues examined including heart, brain, spleen, lung, liver, skeletal muscle, kidney and testis. Higher levels in brain, liver and testis. In the retina, highly expressed in the ganglion cell layer (GCL) and in the inner nuclear layer (INL). Evenly distributed in central and peripheral retina. In the brain, highly expressed in the suprachiasmatic nucleus (SCN). High levels in cerebral cortical layers particularly in the pyramidial cell layer of the hippocampus, the granular cell layer of the dentate gyrus (DG) and the pyramidal cell layer of the piriform cortex (PFC). Oscillates diurnally, rhythmic expression in the early night is critical for clock function (at protein level). In SCN, exhibits circadian rhythm expression with highest levels during the light phase at CT10. No detectable expression after 8 hours in the dark. Circadian oscillations also observed in liver, skeletal muscle and cerebellum, but not in testis. The LIR motifs (LC3-interacting region) 3 and 5 are required for its interaction with MAP1LC3B and for its autophagy-mediated degradation. Phosphorylation on Ser-247 by MAPK is important for the inhibition of CLOCK-BMAL1-mediated transcriptional activity. Phosphorylation by CSNK1E requires interaction with PER1 or PER2. Phosphorylation at Ser- 71 and Ser-280 by AMPK decreases protein stability. Phosphorylation at Ser-588 exhibits a robust circadian rhythm with a peak at CT8, increases protein stability, prevents SCF(FBXL3)-mediated degradation and is antagonized by interaction with PRKDC. Ubiquitinated by the SCF(FBXL3) and SCF(FBXL21) complexes, regulating the balance between degradation and stabilization. The SCF(FBXL3) complex is mainly nuclear and mediates ubiquitination and subsequent degradation of CRY1. In contrast, cytoplasmic SCF(FBXL21) complex-mediated ubiquitination leads to stabilize CRY1 and counteract the activity of the SCF(FBXL3) complex. The SCF(FBXL3) and SCF(FBXL21) complexes probably mediate ubiquitination at different Lys residues. Ubiquitination at Lys-11 and Lys-107 are specifically ubiquitinated by the SCF(FBXL21) complex but not by the SCF(FBXL3) complex. Ubiquitination may be inhibited by PER2. Deubiquitinated by USP7 (PubMed:27123980). Undergoes autophagy-mediated degradation in the liver in a time- dependent manner. Autophagic degradation of CRY1 (an inhibitor of gluconeogenesis) occurs during periods of reduced feeding allowing induction of gluconeogenesis and maintenance of blood glucose levels. Mice show an advanced phase shift (around 4 hours) in the expression of DBP, NR1D1 and PER1 genes in the liver. Double knockouts of CRY1 and CRY2 show slightly decrease body weight and lose the cycling rhythmicity of feeding behavior, energy expenditure and glucocorticoids expression. Glucose homeostasis is severely disrupted and animals exhibit elevated blood glucose in response to acute feeding after an overnight fast as well as severely impaired glucose clearance in a glucose tolerance test. When challenged with high-fat diet, animals rapidly gain weight and surpass that of wild-type mice, despite displaying hypophagia. They exhibit hyperinsulinemia and selective insulin resistance in the liver and muscle but show high insulin sensitivity in adipose tissue and consequent increased lipid uptake. Mice display enlarged gonadal, subcutaneous and perirenal fat deposits with adipocyte hypertrophy and increased lipied accumulation in liver. Mice show loss of circadian rhythms in photopic ERG b-wave amplitudes, visual contrast sensitivity and pupillary light responses, with reduced robustness and stability of bioluminescent rhythms (PubMed:29561690). Both single CRY1 knockout and double CRY1 and CRY2 knockout mice show increased exercise performance and increased mitochondrial reserve capacity in primary myotubes (PubMed:28683290). Belongs to the DNA photolyase class-1 family. negative regulation of transcription from RNA polymerase II promoter nucleotide binding double-stranded DNA binding protein binding nucleus nucleoplasm cytoplasm mitochondrion cytosol gluconeogenesis DNA damage induced protein phosphorylation circadian rhythm transcription factor binding response to light stimulus photoreceptor activity response to activity protein-chromophore linkage kinase binding protein kinase binding phosphatase binding lipid storage negative regulation of protein ubiquitination positive regulation of protein ubiquitination response to insulin circadian regulation of gene expression response to glucagon nuclear hormone receptor binding glucose homeostasis regulation of circadian rhythm negative regulation of circadian rhythm histone deacetylase binding entrainment of circadian clock by photoperiod negative regulation of gluconeogenesis negative regulation of G-protein coupled receptor protein signaling pathway negative regulation of transcription, DNA-templated rhythmic process response to stimulus E-box binding regulation of DNA damage checkpoint negative regulation of glucocorticoid receptor signaling pathway negative regulation of glucocorticoid secretion uc007gle.1 uc007gle.2 uc007gle.3 
ENSMUST00000020234.14 Timp3 ENSMUST00000020234.14 tissue inhibitor of metalloproteinase 3 (from RefSeq NM_011595.2) ENSMUST00000020234.1 ENSMUST00000020234.10 ENSMUST00000020234.11 ENSMUST00000020234.12 ENSMUST00000020234.13 ENSMUST00000020234.2 ENSMUST00000020234.3 ENSMUST00000020234.4 ENSMUST00000020234.5 ENSMUST00000020234.6 ENSMUST00000020234.7 ENSMUST00000020234.8 ENSMUST00000020234.9 NM_011595 Q54AE5 Q54AE5_MOUSE Timp3 uc007gnr.1 uc007gnr.2 uc007gnr.3 Interacts with EFEMP1. Secreted, extracellular space, extracellular matrix Belongs to the protease inhibitor I35 (TIMP) family. extracellular region metalloendopeptidase inhibitor activity negative regulation of endopeptidase activity negative regulation of membrane protein ectodomain proteolysis negative regulation of ERK1 and ERK2 cascade positive regulation of TRAIL-activated apoptotic signaling pathway uc007gnr.1 uc007gnr.2 uc007gnr.3 
ENSMUST00000020238.14 Hsp90b1 ENSMUST00000020238.14 heat shock protein 90, beta (Grp94), member 1 (from RefSeq NM_011631.1) ENSMUST00000020238.1 ENSMUST00000020238.10 ENSMUST00000020238.11 ENSMUST00000020238.12 ENSMUST00000020238.13 ENSMUST00000020238.2 ENSMUST00000020238.3 ENSMUST00000020238.4 ENSMUST00000020238.5 ENSMUST00000020238.6 ENSMUST00000020238.7 ENSMUST00000020238.8 ENSMUST00000020238.9 Hsp90b1 NM_011631 Q3UAD6 Q3UAD6_MOUSE Tra1 uc007gqi.1 uc007gqi.2 uc007gqi.3 Endoplasmic reticulum lumen Melanosome Sarcoplasmic reticulum lumen Belongs to the heat shock protein 90 family. response to hypoxia RNA binding ATP binding endoplasmic reticulum endoplasmic reticulum lumen endoplasmic reticulum membrane cytosol protein folding protein phosphatase binding ER-associated ubiquitin-dependent protein catabolic process midbody retrograde protein transport, ER to cytosol actin rod assembly macromolecular complex negative regulation of apoptotic process regulation of phosphoprotein phosphatase activity perinuclear region of cytoplasm low-density lipoprotein particle receptor binding unfolded protein binding cellular response to ATP uc007gqi.1 uc007gqi.2 uc007gqi.3 
ENSMUST00000020241.17 Pah ENSMUST00000020241.17 phenylalanine hydroxylase (from RefSeq NM_008777.3) ENSMUST00000020241.1 ENSMUST00000020241.10 ENSMUST00000020241.11 ENSMUST00000020241.12 ENSMUST00000020241.13 ENSMUST00000020241.14 ENSMUST00000020241.15 ENSMUST00000020241.16 ENSMUST00000020241.2 ENSMUST00000020241.3 ENSMUST00000020241.4 ENSMUST00000020241.5 ENSMUST00000020241.6 ENSMUST00000020241.7 ENSMUST00000020241.8 ENSMUST00000020241.9 NM_008777 P16331 PH4H_MOUSE Q91WV1 uc007gqt.1 uc007gqt.2 uc007gqt.3 uc007gqt.4 Catalyzes the hydroxylation of L-phenylalanine to L-tyrosine. Reaction=(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin + L-phenylalanine + O2 = (4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin + L- tyrosine; Xref=Rhea:RHEA:20273, ChEBI:CHEBI:15379, ChEBI:CHEBI:15642, ChEBI:CHEBI:58095, ChEBI:CHEBI:58315, ChEBI:CHEBI:59560; EC=1.14.16.1; Evidence=; Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; N-terminal region of PAH is thought to contain allosteric binding sites for phenylalanine and to constitute an 'inhibitory' domain that regulates the activity of a catalytic domain in the C-terminal portion of the molecule. Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 1/6. Homodimer and homotetramer. Phosphorylation at Ser-16 increases basal activity and facilitates activation by the substrate phenylalanine. Belongs to the biopterin-dependent aromatic amino acid hydroxylase family. catalytic activity monooxygenase activity phenylalanine 4-monooxygenase activity iron ion binding L-phenylalanine metabolic process L-phenylalanine catabolic process tyrosine biosynthetic process metabolic process aromatic amino acid family metabolic process oxidoreductase activity amino acid binding oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen protein hydroxylation pteridine-containing compound metabolic process protein homodimerization activity tetrahydrobiopterin metabolic process metal ion binding cofactor binding oxidation-reduction process uc007gqt.1 uc007gqt.2 uc007gqt.3 uc007gqt.4 
ENSMUST00000020243.10 Ascl1 ENSMUST00000020243.10 achaete-scute family bHLH transcription factor 1 (from RefSeq NM_008553.5) ASCL1_MOUSE Ascl1 Ash1 ENSMUST00000020243.1 ENSMUST00000020243.2 ENSMUST00000020243.3 ENSMUST00000020243.4 ENSMUST00000020243.5 ENSMUST00000020243.6 ENSMUST00000020243.7 ENSMUST00000020243.8 ENSMUST00000020243.9 Mash-1 Mash1 NM_008553 Q02067 Q7TNT5 uc007gqs.1 uc007gqs.2 uc007gqs.3 Transcription factor that plays a key role in neuronal differentiation: acts as a pioneer transcription factor, accessing closed chromatin to allow other factors to bind and activate neural pathways (PubMed:24243019). Directly binds the E box motif (5'-CANNTG- 3') on promoters and promotes transcription of neuronal genes (PubMed:20107439, PubMed:24243019, PubMed:27281220). The combination of three transcription factors, ASCL1, POU3F2/BRN2 and MYT1L, is sufficient to reprogram fibroblasts and other somatic cells into induced neuronal (iN) cells in vitro (PubMed:20107439, PubMed:24243019, PubMed:27281220). Plays a role at early stages of development of specific neural lineages in most regions of the CNS, and of several lineages in the PNS (PubMed:8217843). Essential for the generation of olfactory and autonomic neurons (PubMed:8221886). Acts synergistically with FOXN4 to specify the identity of V2b neurons rather than V2a from bipotential p2 progenitors during spinal cord neurogenesis, probably through DLL4-NOTCH signaling activation (PubMed:16020526, PubMed:17728344). Involved in the regulation of neuroendocrine cell development in the glandular stomach (PubMed:18173746). Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with TCF3. Nucleus Developing CNS and PNS at embryonic and postnatal stages. Expressed in the epithelium of glandular stomach (PubMed:18173746). Between 8.5 dpc and 10.5 dpc it is found in the neuroepithelium of the midbrain and ventral forebrain, as well as in the spinal cord. Between 10.5 dpc and 12.5 dpc its expression pattern changes from a restricted to a widespread zone, it is then found at variable levels in the ventricular zone in all regions of the brain, where is expressed in a subset of p2 progenitors that can give rise to either V2a or V2b interneuron subtypes. From 12.5 dpc to postnatal stages it is also expressed in cells outside of the ventricular zone through the brain, and in addition it is also expressed during development of the olfactory epithelium and neural retina. At 12.5 dpc, it is highly expressed by differentiating enteric neurons in the mesenchyme of the stomach. At 14.5 and 16.5 dpc, it is also expressed in the epithelium of the glandular stomach (PubMed:18173746). Lethality at birth caused by severe defects in neurogenesis. While the brain and spinal cord of the mutants appear normal, their olfactory epithelium and sympathetic, parasympathetic and enteric ganglia are severely affected. In the olfactory epithelium, neuronal progenitors die at an early stage, whereas the non-neuronal supporting cells are present. In sympathetic ganglia, the development of neuronal precursors is arrested, preventing the generation of sympathetic neurons, without affecting glial precursor cells. Homozygous MASH1-null mice have smaller stomachs than the control, and neuroendocrine cells are mostly missing, while chief, parietal and pit cells are formed. However, the wall of the glandular stomach is much thicker, has a deeper fold structure, and the forestomach epithelium is villous compared to controls (PubMed:18173746). negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding neuron migration noradrenergic neuron development noradrenergic neuron fate commitment DNA binding chromatin binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription from RNA polymerase II promoter Notch signaling pathway multicellular organism development regulation of mitotic cell cycle pattern specification process nervous system development neuroblast fate determination neuroblast proliferation sensory organ development heart development transcription factor binding regulation of Notch signaling pathway glial cell differentiation response to lithium ion regulation of gene expression oligodendrocyte development spinal cord association neuron differentiation spinal cord oligodendrocyte cell differentiation spinal cord oligodendrocyte cell fate specification vestibular nucleus development oligodendrocyte cell fate commitment forebrain neuron differentiation cerebral cortex GABAergic interneuron differentiation commitment of neuronal cell to specific neuron type in forebrain central nervous system neuron development cerebral cortex development neurogenesis cell differentiation neuron differentiation regulation of epithelial cell differentiation response to retinoic acid regulation of cell proliferation protein homodimerization activity neuronal cell body negative regulation of apoptotic process bHLH transcription factor binding positive regulation of neuron apoptotic process sequence-specific DNA binding negative regulation of neuron differentiation positive regulation of neuron differentiation positive regulation of Notch signaling pathway positive regulation of cell cycle negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein dimerization activity cell maturation enteric nervous system development sympathetic nervous system development parasympathetic nervous system development neuron fate commitment neuron fate specification neuron development generation of neurons oligodendrocyte differentiation regulation of neurogenesis positive regulation of neurogenesis musculoskeletal movement, spinal reflex action response to folic acid subpallium neuron fate commitment regulation of timing of subpallium neuron differentiation olfactory pit development ventral spinal cord interneuron fate commitment lung neuroendocrine cell differentiation stomach neuroendocrine cell differentiation carotid body glomus cell differentiation adrenal chromaffin cell differentiation sympathetic ganglion development response to epidermal growth factor E-box binding cellular response to magnetism RNA polymerase II transcription factor complex positive regulation of neural precursor cell proliferation uc007gqs.1 uc007gqs.2 uc007gqs.3 
ENSMUST00000020248.16 Washc3 ENSMUST00000020248.16 WASH complex subunit 3, transcript variant 1 (from RefSeq NM_026070.3) Ccdc53 ENSMUST00000020248.1 ENSMUST00000020248.10 ENSMUST00000020248.11 ENSMUST00000020248.12 ENSMUST00000020248.13 ENSMUST00000020248.14 ENSMUST00000020248.15 ENSMUST00000020248.2 ENSMUST00000020248.3 ENSMUST00000020248.4 ENSMUST00000020248.5 ENSMUST00000020248.6 ENSMUST00000020248.7 ENSMUST00000020248.8 ENSMUST00000020248.9 NM_026070 Q8K2X5 Q9CR27 Q9D0Y7 WASC3_MOUSE Washc3 uc007grh.1 uc007grh.2 uc007grh.3 uc007grh.4 Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sortingg. Component of the WASH core complex also described as WASH regulatory complex (SHRC) composed of WASHC1, WASHC2, WASHC3, WASHC4 and WASHC5. The WASH core complex associates via WASHC2 with the F- actin-capping protein dimer (formed by CAPZA1, CAPZA2 or CAPZA3 and CAPZB) in a transient or substoichiometric manner which was initially described as WASH complex. Early endosome Belongs to the CCDC53 family. molecular_function endosome early endosome exocytosis protein transport actin filament polymerization WASH complex uc007grh.1 uc007grh.2 uc007grh.3 uc007grh.4 
ENSMUST00000020249.2 Dram1 ENSMUST00000020249.2 DNA-damage regulated autophagy modulator 1, transcript variant 3 (from RefSeq NR_184639.1) DRAM1_MOUSE Dram ENSMUST00000020249.1 NR_184639 Q78J26 Q9DC58 uc007grj.1 uc007grj.2 Lysosomal modulator of autophagy that plays a central role in p53/TP53-mediated apoptosis. Not involved in p73/TP73-mediated autophagy (By similarity). Lysosome membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9DC58-1; Sequence=Displayed; Name=2; IsoId=Q9DC58-2; Sequence=VSP_025461; Belongs to the DRAM/TMEM150 family. molecular_function cytoplasm lysosome lysosomal membrane autophagy apoptotic process regulation of autophagy membrane integral component of membrane uc007grj.1 uc007grj.2 
ENSMUST00000020251.10 Gnptab ENSMUST00000020251.10 N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits, transcript variant 5 (from RefSeq NM_001421319.1) ENSMUST00000020251.1 ENSMUST00000020251.2 ENSMUST00000020251.3 ENSMUST00000020251.4 ENSMUST00000020251.5 ENSMUST00000020251.6 ENSMUST00000020251.7 ENSMUST00000020251.8 ENSMUST00000020251.9 GNPTA_MOUSE Gnpta Kiaa1208 NM_001421319 Q3U3K6 Q3US34 Q69ZN6 uc007grl.1 uc007grl.2 uc007grl.3 Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes to the endosomal/prelysosomal compartment. Reaction=N(4)-[alpha-D-mannosyl-(1->2)-alpha-D-mannosyl-(glycan)]-L- asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = H(+) + N(4)-[6-(N-acetyl-alpha-D-glucosaminyl-1-phospho)-alpha-D-mannosyl- (1->2)-alpha-D-mannosyl-(glycan)]-L-asparaginyl-[protein] + UMP; Xref=Rhea:RHEA:13581, Rhea:RHEA-COMP:14507, Rhea:RHEA-COMP:14508, ChEBI:CHEBI:15378, ChEBI:CHEBI:57705, ChEBI:CHEBI:57865, ChEBI:CHEBI:140357, ChEBI:CHEBI:140369; EC=2.7.8.17; Evidence=; Hexamer of two alpha, two beta and two gamma (GNPTG) subunits; disulfide-linked. The alpha and/or the beta subunits of the enzyme constitute the catalytic subunits. Interacts with LYSET; facilitates proper localization of GNPTAB. [N-acetylglucosamine-1-phosphotransferase subunit alpha]: Golgi apparatus membrane ; Single-pass type I membrane protein [N-acetylglucosamine-1-phosphotransferase subunit beta]: Golgi apparatus membrane ; Single- pass type II membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q69ZN6-1; Sequence=Displayed; Name=2; IsoId=Q69ZN6-2; Sequence=VSP_017340, VSP_017341; The DMAP1-binding domain mediates substrate recognition. It specifically recognizes a conformation-dependent protein determinant present in acid hydrolases. The alpha- and beta-subunits are generated by a proteolytic cleavage by MBTPS1 protease at the Lys-907-Asp-908 bond. Severe retinal degeneration, growth retardation and secretory cell lesions. Mice are smaller with a reduced mean body weight and length, along with a reduction in total tissue mass and lean body mass. They show elevated levels of serum lysosomal enzymes, cartilage defects, and display cytoplasmic alterations in secretory cells of several exocrine glands. Stealth proteins are part of a protein family that is conserved from bacteria to higher eukaryotes. Family members were first identified in microbes as proteins that help pathogens to elude the host innate immune system. Microbial stealth proteins are most likely involved in the biosynthesis of exopolysaccharides. Stealth proteins are predicted to function as hexose-1-phosphoryltransferases. Belongs to the stealth family. Sequence=BAD32410.1; Type=Erroneous initiation; Evidence=; Sequence=BAE32779.1; Type=Erroneous initiation; Evidence=; Golgi membrane UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity calcium ion binding Golgi apparatus lysosome organization protein secretion membrane integral component of membrane N-glycan processing to lysosome transferase activity transferase activity, transferring phosphorus-containing groups secretion of lysosomal enzymes carbohydrate phosphorylation metal ion binding uc007grl.1 uc007grl.2 uc007grl.3 
ENSMUST00000020252.10 Sycp3 ENSMUST00000020252.10 synaptonemal complex protein 3 (from RefSeq NM_011517.2) A2RSE7 A2RSE7_MOUSE ENSMUST00000020252.1 ENSMUST00000020252.2 ENSMUST00000020252.3 ENSMUST00000020252.4 ENSMUST00000020252.5 ENSMUST00000020252.6 ENSMUST00000020252.7 ENSMUST00000020252.8 ENSMUST00000020252.9 NM_011517 Sycp3 uc007grm.1 uc007grm.2 uc007grm.3 uc007grm.4 Belongs to the XLR/SYCP3 family. lateral element uc007grm.1 uc007grm.2 uc007grm.3 uc007grm.4 
ENSMUST00000020255.8 Slc5a8 ENSMUST00000020255.8 solute carrier family 5 (iodide transporter), member 8 (from RefSeq NM_145423.2) ENSMUST00000020255.1 ENSMUST00000020255.2 ENSMUST00000020255.3 ENSMUST00000020255.4 ENSMUST00000020255.5 ENSMUST00000020255.6 ENSMUST00000020255.7 NM_145423 Q8BYF6 Q8VD01 SC5A8_MOUSE Slc5a8 Smct Smct1 uc007grz.1 uc007grz.2 Acts as an electrogenic sodium (Na(+)) and chloride (Cl-)- dependent sodium-coupled solute transporter, including transport of monocarboxylates (short-chain fatty acids including L-lactate, D- lactate, pyruvate, acetate, propionate, valerate and butyrate), mocarboxylate drugs (nicotinate, benzoate, salicylate and 5- aminosalicylate) and ketone bodies (beta-D-hydroxybutyrate, acetoacetate and alpha-ketoisocaproate), with a Na(+):substrate stoichiometry of between 4:1 and 2:1 (PubMed:15322102, PubMed:15651982, PubMed:20211600). Catalyzes passive carrier mediated diffusion of iodide (By similarity). Mediates iodide transport from the thyrocyte into the colloid lumen through the apical membrane (By similarity). May be responsible for the absorption of D-lactate and monocarboxylate drugs from the intestinal tract (By similarity). May play a critical role in the entry of L-lactate and ketone bodies into neurons by a process driven by an electrochemical Na(+) gradient and hence contribute to the maintenance of the energy status and function of neurons (By similarity). Mediates sodium-coupled electrogenic transport of pyroglutamate (5-oxo-L-proline) (PubMed:20211600). Can mediate the transport of chloride, bromide, iodide and nitrate ions when external concentration of sodium ions is reduced (By similarity). Reaction=(S)-lactate(out) + 2 Na(+)(out) = (S)-lactate(in) + 2 Na(+)(in); Xref=Rhea:RHEA:72935, ChEBI:CHEBI:16651, ChEBI:CHEBI:29101; Evidence=; Reaction=2 Na(+)(out) + propanoate(out) = 2 Na(+)(in) + propanoate(in); Xref=Rhea:RHEA:72939, ChEBI:CHEBI:17272, ChEBI:CHEBI:29101; Evidence=; Reaction=2 Na(+)(out) + pyruvate(out) = 2 Na(+)(in) + pyruvate(in); Xref=Rhea:RHEA:72943, ChEBI:CHEBI:15361, ChEBI:CHEBI:29101; Evidence=; Reaction=acetate(out) + 2 Na(+)(out) = acetate(in) + 2 Na(+)(in); Xref=Rhea:RHEA:72947, ChEBI:CHEBI:29101, ChEBI:CHEBI:30089; Evidence=; Reaction=butanoate(out) + 2 Na(+)(out) = butanoate(in) + 2 Na(+)(in); Xref=Rhea:RHEA:72951, ChEBI:CHEBI:17968, ChEBI:CHEBI:29101; Evidence=; Reaction=2 Na(+)(out) + nicotinate(out) = 2 Na(+)(in) + nicotinate(in); Xref=Rhea:RHEA:72955, ChEBI:CHEBI:29101, ChEBI:CHEBI:32544; Evidence=; Reaction=(R)-3-hydroxybutanoate(out) + 2 Na(+)(out) = (R)-3- hydroxybutanoate(in) + 2 Na(+)(in); Xref=Rhea:RHEA:72959, ChEBI:CHEBI:10983, ChEBI:CHEBI:29101; Evidence=; Reaction=acetoacetate(out) + 2 Na(+)(out) = acetoacetate(in) + 2 Na(+)(in); Xref=Rhea:RHEA:72963, ChEBI:CHEBI:13705, ChEBI:CHEBI:29101; Evidence=; Reaction=4-methyl-2-oxopentanoate(out) + 2 Na(+)(out) = 4-methyl-2- oxopentanoate(in) + 2 Na(+)(in); Xref=Rhea:RHEA:72967, ChEBI:CHEBI:17865, ChEBI:CHEBI:29101; Evidence=; Reaction=5-oxo-L-proline(out) + 2 Na(+)(out) = 5-oxo-L-proline(in) + 2 Na(+)(in); Xref=Rhea:RHEA:72971, ChEBI:CHEBI:29101, ChEBI:CHEBI:58402; Evidence=; Reaction=iodide(out) = iodide(in); Xref=Rhea:RHEA:66324, ChEBI:CHEBI:16382; Evidence=; Reaction=chloride(in) = chloride(out); Xref=Rhea:RHEA:29823, ChEBI:CHEBI:17996; Evidence=; Reaction=nitrate(in) = nitrate(out); Xref=Rhea:RHEA:34923, ChEBI:CHEBI:17632; Evidence=; Reaction=bromide(in) = bromide(out); Xref=Rhea:RHEA:75383, ChEBI:CHEBI:15858; Evidence=; Transport of D-lactate and pyruvate stimulated by alpha-cyano-4-hydroxycinnamic acid, but inhibited by the short-chain fatty acids acetate, propionate and butyrate. Kinetic parameters: KM=296 uM for nicotinate ; Interacts (via PDZ-binding motif) with PDZK1 (via PDZ domains 1 and 3); interaction increases nicotinate transport activity of SLC5A8. Apical cell membrane ulti-pass membrane protein Note=Restricted to the apical cell membrane of enterocytes. Expressed in brain, colon, kidney and in the ileum and jejunum of small intestine. In the kidney, expression occurred in the proximal tubule and the loop of Henle, being restricted to tubular epithelial cells in both the cortex and the medulla. In the colon, predominantly expressed in the distal half of the large bowel and in the most terminal ileum. Localized selectively in the luminal surface of crypts in the large intestine and to the brush border in the middle parts of crypts in the cecum. In the brain, expression was seen throughout, exclusively in neurons, including the cortex, hippocampus, cerebellum and pituitary gland (at protein level). Expression is reduced in oligodendrogliomas. Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. Sequence=AAH17691.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; organic acid:sodium symporter activity plasma membrane ion transport sodium ion transport apoptotic process lactate transmembrane transporter activity symporter activity propionate transmembrane transporter activity short-chain fatty acid uptake transporter activity monocarboxylic acid transport propanoate transport short-chain fatty acid import membrane integral component of membrane apical plasma membrane transmembrane transporter activity brush border membrane lactate transmembrane transport transmembrane transport organic acid transmembrane transport uc007grz.1 uc007grz.2 
ENSMUST00000020258.10 Herc4 ENSMUST00000020258.10 hect domain and RLD 4, transcript variant 2 (from RefSeq NM_026101.4) ENSMUST00000020258.1 ENSMUST00000020258.2 ENSMUST00000020258.3 ENSMUST00000020258.4 ENSMUST00000020258.5 ENSMUST00000020258.6 ENSMUST00000020258.7 ENSMUST00000020258.8 ENSMUST00000020258.9 HERC4_MOUSE NM_026101 Q3UL34 Q3UPX2 Q6PAV2 Q810A0 Q811C9 Q8R315 Q9D797 uc007fkc.1 uc007fkc.2 uc007fkc.3 uc007fkc.4 Probable E3 ubiquitin-protein ligase involved in either protein trafficking or in the distribution of cellular structures. Required for spermatozoon maturation and fertility, and for the removal of the cytoplasmic droplet of the spermatozoon. E3 ubiquitin-protein ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer it to targeted substrates. Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.26; Protein modification; protein ubiquitination. Cytoplasm, cytosol Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6PAV2-1; Sequence=Displayed; Name=2; IsoId=Q6PAV2-2; Sequence=VSP_023182; Name=3; IsoId=Q6PAV2-3; Sequence=VSP_023180, VSP_023181; Ubiquitously expressed, highest expression is found in testis during spermiogenesis. It is specifically found in spermatogonia, spermatocytes, and spermatids with little or no expression detectable in the spermatozoa, or interstitial cells. Highly expressed in testis during spermiogenesis. Expression was almost undetectable in testes at postnatal day 14 (P14). However, by P23, a strong increase in mRNA levels was observed with expression persisting to P40 when spermatozoa were first observed. Up- regulated in the uterine luminal epithelium at the time of embryo implantation. Disruption causes defects in spermatozoon maturation and impaired fertility in males; females display normal fertility. Males produce litter sizes some 50% smaller, as well 50% of mature spermatozoa have reduced mobility. T.wilfordii induces abnormal expression of spermiogenesis genes including Herc4, the spermatogenic cells in the convoluted seminiferous tubules decrease and the lumen is obstructed by large deciduous spermatogenic cells. T.wilfordii has apparent antifertility effects. fibrillar center ubiquitin-protein transferase activity cytoplasm cytosol spermatogenesis protein ubiquitination transferase activity cell differentiation ubiquitin protein ligase activity uc007fkc.1 uc007fkc.2 uc007fkc.3 uc007fkc.4 
ENSMUST00000020262.5 Pbld2 ENSMUST00000020262.5 phenazine biosynthesis-like protein domain containing 2, transcript variant 6 (from RefSeq NR_175966.1) ENSMUST00000020262.1 ENSMUST00000020262.2 ENSMUST00000020262.3 ENSMUST00000020262.4 Mawbp1 NR_175966 PBLD2_MOUSE Q9CXN7 Q9D2W4 uc007fjr.1 uc007fjr.2 uc007fjr.3 Belongs to the PhzF family. molecular_function catalytic activity biological_process biosynthetic process isomerase activity uc007fjr.1 uc007fjr.2 uc007fjr.3 
ENSMUST00000020263.14 Hnrnph3 ENSMUST00000020263.14 heterogeneous nuclear ribonucleoprotein H3, transcript variant 4 (from RefSeq NM_001359261.1) D3Z3N4 D3Z3N4_MOUSE ENSMUST00000020263.1 ENSMUST00000020263.10 ENSMUST00000020263.11 ENSMUST00000020263.12 ENSMUST00000020263.13 ENSMUST00000020263.2 ENSMUST00000020263.3 ENSMUST00000020263.4 ENSMUST00000020263.5 ENSMUST00000020263.6 ENSMUST00000020263.7 ENSMUST00000020263.8 ENSMUST00000020263.9 Hnrnph3 NM_001359261 uc007fjo.1 uc007fjo.2 uc007fjo.3 nucleic acid binding RNA binding nucleus nucleoplasm biological_process epithelial cell differentiation uc007fjo.1 uc007fjo.2 uc007fjo.3 
ENSMUST00000020268.7 Ccar1 ENSMUST00000020268.7 Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator. May thus play an important role in transcriptional regulation. May be involved in apoptosis signaling in the presence of the retinoid CD437. Apoptosis induction involves sequestration of 14-3-3 protein(s) and mediated altered expression of multiple cell cycle regulatory genes including MYC, CCNB1 and CDKN1A. Plays a role in cell cycle progression and/or cell proliferation (By similarity). In association with CALCOCO1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). Can act as a both a coactivator and corepressor of AR-mediated transcription. Contributes to chromatin looping and AR transcription complex assembly by stabilizing AR-GATA2 association on chromatin and facilitating MED1 and RNA polymerase II recruitment to AR-binding sites. May play an important role in the growth and tumorigenesis of prostate cancer cells (PubMed:23887938). (from UniProt Q8CH18) BC079652 CCAR1_MOUSE Carp1 ENSMUST00000020268.1 ENSMUST00000020268.2 ENSMUST00000020268.3 ENSMUST00000020268.4 ENSMUST00000020268.5 ENSMUST00000020268.6 Q05BR1 Q05DK6 Q6AXC9 Q6PAR2 Q80XE4 Q8BJY0 Q8BVN2 Q8CGG1 Q8CH18 Q9CSR5 uc007fjb.1 uc007fjb.2 uc007fjb.3 Associates with components of the Mediator and p160 coactivator complexes that play a role as intermediaries transducing regulatory signals from upstream transcriptional activator proteins to basal transcription machinery at the core promoter. Recruited to endogenous nuclear receptor target genes in response to the appropriate hormone. Also functions as a p53 coactivator. May thus play an important role in transcriptional regulation. May be involved in apoptosis signaling in the presence of the retinoid CD437. Apoptosis induction involves sequestration of 14-3-3 protein(s) and mediated altered expression of multiple cell cycle regulatory genes including MYC, CCNB1 and CDKN1A. Plays a role in cell cycle progression and/or cell proliferation (By similarity). In association with CALCOCO1 enhances GATA1- and MED1-mediated transcriptional activation from the gamma-globin promoter during erythroid differentiation of K562 erythroleukemia cells (PubMed:24245781). Can act as a both a coactivator and corepressor of AR-mediated transcription. Contributes to chromatin looping and AR transcription complex assembly by stabilizing AR-GATA2 association on chromatin and facilitating MED1 and RNA polymerase II recruitment to AR-binding sites. May play an important role in the growth and tumorigenesis of prostate cancer cells (PubMed:23887938). Directly interacts with ESR1, NR3C1 and p53/TP53. Interacts (via N-terminus) with CALCOCO1. Interacts with MED1 and GATA1. Interacts with AR and GATA2 (By similarity). Cytoplasm, perinuclear region Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8CH18-1; Sequence=Displayed; Name=2; IsoId=Q8CH18-2; Sequence=VSP_018054, VSP_018055; Name=3; IsoId=Q8CH18-3; Sequence=VSP_037737; Sequence=AAH10199.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; Sequence=AAH34174.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; Sequence=AAH39939.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; Sequence=AAH51052.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; Sequence=AAH60130.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; Sequence=AAH79652.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; RNA polymerase II distal enhancer sequence-specific DNA binding transcription coactivator activity transcription corepressor activity protein binding nucleus nuclear envelope lumen cytoplasm regulation of transcription, DNA-templated apoptotic process cell cycle positive regulation of cell proliferation positive regulation of cell migration ligand-dependent nuclear receptor transcription coactivator activity positive regulation of apoptotic process perinuclear region of cytoplasm negative regulation of nucleic acid-templated transcription positive regulation of nucleic acid-templated transcription uc007fjb.1 uc007fjb.2 uc007fjb.3 
ENSMUST00000020270.6 Ddx50 ENSMUST00000020270.6 DExD box helicase 50, transcript variant 1 (from RefSeq NM_053183.3) DDX50_MOUSE ENSMUST00000020270.1 ENSMUST00000020270.2 ENSMUST00000020270.3 ENSMUST00000020270.4 ENSMUST00000020270.5 NM_053183 Q99MJ9 uc007fhp.1 uc007fhp.2 uc007fhp.3 Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Interacts with C1QBP. Nucleus, nucleolus Belongs to the DEAD box helicase family. DDX21/DDX50 subfamily. nucleotide binding nucleic acid binding RNA binding RNA helicase activity helicase activity ATP binding nucleus nucleolus plasma membrane hydrolase activity uc007fhp.1 uc007fhp.2 uc007fhp.3 
ENSMUST00000020273.16 Supv3l1 ENSMUST00000020273.16 suppressor of var1, 3-like 1 (S. cerevisiae), transcript variant 1 (from RefSeq NM_181423.3) ENSMUST00000020273.1 ENSMUST00000020273.10 ENSMUST00000020273.11 ENSMUST00000020273.12 ENSMUST00000020273.13 ENSMUST00000020273.14 ENSMUST00000020273.15 ENSMUST00000020273.2 ENSMUST00000020273.3 ENSMUST00000020273.4 ENSMUST00000020273.5 ENSMUST00000020273.6 ENSMUST00000020273.7 ENSMUST00000020273.8 ENSMUST00000020273.9 NM_181423 Q50HX5 Q80YD1 SUV3_MOUSE Suv3l1 uc007fhd.1 uc007fhd.2 uc007fhd.3 Major helicase player in mitochondrial RNA metabolism. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Involved in the degradation of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (By similarity). ATPase and ATP-dependent multisubstrate helicase, able to unwind double-stranded (ds) DNA and RNA, and RNA/DNA heteroduplexes in the 5'-to-3' direction. Plays a role in the RNA surveillance system in mitochondria; regulates the stability of mature mRNAs, the removal of aberrantly formed mRNAs and the rapid degradation of non coding processing intermediates. Also implicated in recombination and chromatin maintenance pathways. May protect cells from apoptosis. Associates with mitochondrial DNA. Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Helicase activity toward DNA substrate is inhibited by micromolar concentrations of 5,6-dichloro-1-(beta-D- ribofuranosyl)benzotriazole (DRBT) and 4,5,6,7-tetrabromobenzotriazole (TBBT). Helicase activity toward RNA substrate is inhibited by elevated concentrations of TBBT. Inhibited by some ring-expanded nucleoside analogs. Homodimer; in free form. Component of the mitochondrial degradosome (mtEXO) complex which is a heteropentamer containing 2 copies of SUPV3L1 and 3 copies of PNPT1. As part of mitochondrial degradosome complex, interacts with GRSF1 in a RNA-dependent manner; the interaction enhances the activity of the complex. Interacts with LAMTOR5/HBXIP, WRN and BLM. Nucleus Mitochondrion matrix Mitochondrion matrix, mitochondrion nucleoid Die in utero before midgestation. Show elevated sister chromatid exchange (SCE). Belongs to the helicase family. nucleotide binding mitochondrial mRNA catabolic process positive regulation of mitochondrial RNA catabolic process mitochondrial RNA 3'-end processing DNA binding DNA helicase activity RNA helicase activity double-stranded RNA binding helicase activity ATP binding nucleus mitochondrion mitochondrial matrix DNA recombination RNA catabolic process hydrolase activity hydrolase activity, acting on acid anhydrides positive regulation of cell growth DNA duplex unwinding 3'-5' RNA helicase activity mitochondrial ncRNA surveillance mitochondrial mRNA surveillance mitochondrial nucleoid protein homodimerization activity negative regulation of apoptotic process mitochondrial degradosome mitochondrion morphogenesis chromatin maintenance mitochondrial RNA surveillance uc007fhd.1 uc007fhd.2 uc007fhd.3 
ENSMUST00000020277.9 Hkdc1 ENSMUST00000020277.9 hexokinase domain containing 1 (from RefSeq NM_145419.1) ENSMUST00000020277.1 ENSMUST00000020277.2 ENSMUST00000020277.3 ENSMUST00000020277.4 ENSMUST00000020277.5 ENSMUST00000020277.6 ENSMUST00000020277.7 ENSMUST00000020277.8 HKDC1_MOUSE Hkdc1 NM_145419 Q3UKJ9 Q91W97 uc007fhc.1 uc007fhc.2 uc007fhc.3 Catalyzes the phosphorylation of hexose to hexose 6- phosphate, although at very low level compared to other hexokinases (By similarity). Has low glucose phosphorylating activity compared to other hexokinases (By similarity). Involved in glucose homeostasis and hepatic lipid accumulation (PubMed:30543855). Required to maintain whole-body glucose homeostasis during pregnancy; however additional evidences are required to confirm this role (PubMed:25648650, PubMed:27459389). Reaction=ATP + D-hexose = ADP + D-hexose 6-phosphate + H(+); Xref=Rhea:RHEA:22740, ChEBI:CHEBI:4194, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:61567, ChEBI:CHEBI:456216; EC=2.7.1.1; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22741; Evidence=; Reaction=ATP + D-glucose = ADP + D-glucose 6-phosphate + H(+); Xref=Rhea:RHEA:17825, ChEBI:CHEBI:4167, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:61548, ChEBI:CHEBI:456216; EC=2.7.1.1; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:17826; Evidence=; Carbohydrate metabolism; hexose metabolism. Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 1/4. Cytoplasm Mitochondrion membrane ; Peripheral membrane protein Photoreceptor inner segment Note=The mitochondrial-binding peptide (MBP) region promotes association with the mitochondrion. Widely expressed. Detected in retina, brain, cerebellum, liver, lung, kidney, spleen, pancreas and intestine (PubMed:30085091). Embryonic lethality. Belongs to the hexokinase family. nucleotide binding cellular glucose homeostasis glucokinase activity hexokinase activity ATP binding glucose binding mitochondrion cytosol carbohydrate metabolic process glycolytic process fructokinase activity membrane kinase activity phosphorylation transferase activity phosphotransferase activity, alcohol group as acceptor mannokinase activity hexose metabolic process mitochondrial membrane carbohydrate phosphorylation glucose 6-phosphate metabolic process uc007fhc.1 uc007fhc.2 uc007fhc.3 
ENSMUST00000020278.6 Tacr2 ENSMUST00000020278.6 tachykinin receptor 2 (from RefSeq NM_009314.4) ENSMUST00000020278.1 ENSMUST00000020278.2 ENSMUST00000020278.3 ENSMUST00000020278.4 ENSMUST00000020278.5 NM_009314 Q3KP20 Q3KP20_MOUSE Tacr2 uc007fgx.1 uc007fgx.2 uc007fgx.3 Cell membrane ; Multi-pass membrane protein Membrane ; Multi-pass membrane protein Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity tachykinin receptor activity plasma membrane signal transduction G-protein coupled receptor signaling pathway tachykinin receptor signaling pathway positive regulation of acetylcholine secretion, neurotransmission intestine smooth muscle contraction membrane integral component of membrane substance K receptor activity negative regulation of luteinizing hormone secretion operant conditioning sperm flagellum positive regulation of vascular permeability positive regulation of ion transport response to electrical stimulus prolactin secretion positive regulation of uterine smooth muscle contraction sperm midpiece positive regulation of flagellated sperm motility uc007fgx.1 uc007fgx.2 uc007fgx.3 
ENSMUST00000020283.5 Macroh2a2 ENSMUST00000020283.5 macroH2A.2 histone (from RefSeq NM_207000.2) A0JP36 ENSMUST00000020283.1 ENSMUST00000020283.2 ENSMUST00000020283.3 ENSMUST00000020283.4 H2AW_MOUSE H2afy2 H2afy3 Macroh2a2 NM_207000 Q3TNT4 Q8CCK0 Q925I6 uc007fgm.1 uc007fgm.2 uc007fgm.3 Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and may participate in stable X chromosome inactivation. [provided by RefSeq, Nov 2015]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. ##Evidence-Data-START## Transcript exon combination :: AF336305.1, AK032636.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein replication-independent histone :: PMID: 25731851 ##RefSeq-Attributes-END## Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. May be involved in stable X chromosome inactivation. The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in one H3-H4 heterotetramer and two H2A-H2B heterodimers. Nucleus Chromosome Note=Enriched in inactive X chromosome chromatin and in senescence-associated heterochromatin. Present in liver, kidney and adrenal gland (at protein level). In the liver, present in cells of the bile ducts and parenchymal cells, but not in hepatocytes. In the kidney, present in proximal and distal convoluted tubules and in glomeruli. Present at highest levels in the parietal layer of Bowman capsule. In the adrenal gland, present in the outer cells of the capsule. negative regulation of transcription from RNA polymerase II promoter chromatin nucleosome nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding Barr body DNA binding nucleus nucleoplasm chromosome chromatin organization nucleosome assembly brain development dosage compensation chromatin DNA binding transcription regulatory region DNA binding positive regulation of keratinocyte differentiation negative regulation of gene expression, epigenetic protein heterodimerization activity establishment of protein localization to chromatin negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter uc007fgm.1 uc007fgm.2 uc007fgm.3 
ENSMUST00000020284.5 Tysnd1 ENSMUST00000020284.5 trypsin domain containing 1, transcript variant 1 (from RefSeq NM_027912.1) ENSMUST00000020284.1 ENSMUST00000020284.2 ENSMUST00000020284.3 ENSMUST00000020284.4 NM_027912 Q0VE90 Q9DBA6 TYSD1_MOUSE uc007fgh.1 uc007fgh.2 uc007fgh.3 This gene encodes a protease that removes the N-terminal peroxisomal targeting signal (PTS2) from proteins produced in the cytosol, thereby facilitating their import into the peroxisome. The encoded protein is also capable of removing the C-terminal peroxisomal targeting signal (PTS1) from proteins in the peroxisomal matrix. The full-length protein undergoes self-cleavage to produce shorter, potentially inactive, peptides. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013]. Peroxisomal protease that mediates both the removal of the leader peptide from proteins containing a PTS2 target sequence and processes several PTS1-containing proteins. Catalyzes the processing of PTS1-proteins involved in the peroxisomal beta-oxidation of fatty acids (By similarity). Inhibited by N-ethylmaleimide (NEM). Not affected by leupeptin or trans-epoxysuccinyl-l-leucylamido-(4-gianidino) butane (E64). Homodimer. Forms a heterodimer with the C-terminal cleavage product (49 kDa form). Forms a heterodimer with the N-terminal cleavage product (10 kDa form). Interacts with PEX5. Interacts with LONP2. Peroxisome By the proliferator-activated receptor alpha agonist bezafibrate. Self-cleavage gives rise to an N-terminal 10-kDa fragment and C- terminal 49-kDa fragment upon import into the peroxisomes. The full- lengh TYSND1 is the active the proteolytic processing of PTS1- and PTS2-proteins and in self-cleavage, and intermolecular self-cleavage of TYSND1 down-regulates its protease activity. Belongs to the peptidase S1B family. protease binding serine-type endopeptidase activity peroxisome peroxisomal matrix proteolysis peptidase activity serine-type peptidase activity protein processing hydrolase activity regulation of fatty acid beta-oxidation identical protein binding protein homooligomerization uc007fgh.1 uc007fgh.2 uc007fgh.3 
ENSMUST00000020285.10 Sar1a ENSMUST00000020285.10 secretion associated Ras related GTPase 1A, transcript variant 1 (from RefSeq NM_009120.4) ENSMUST00000020285.1 ENSMUST00000020285.2 ENSMUST00000020285.3 ENSMUST00000020285.4 ENSMUST00000020285.5 ENSMUST00000020285.6 ENSMUST00000020285.7 ENSMUST00000020285.8 ENSMUST00000020285.9 NM_009120 Q99JZ4 Q99JZ4_MOUSE Sar1a Sara1 uc007fgg.1 uc007fgg.2 uc007fgg.3 Interacts with B3GAT1. Belongs to the small GTPase superfamily. SAR1 family. Golgi membrane nucleotide binding GTP binding endoplasmic reticulum Golgi apparatus intracellular protein transport protein transport vesicle-mediated transport COPII vesicle coat cargo loading into COPII-coated vesicle uc007fgg.1 uc007fgg.2 uc007fgg.3 
ENSMUST00000020286.7 Ppa1 ENSMUST00000020286.7 pyrophosphatase (inorganic) 1 (from RefSeq NM_026438.4) ENSMUST00000020286.1 ENSMUST00000020286.2 ENSMUST00000020286.3 ENSMUST00000020286.4 ENSMUST00000020286.5 ENSMUST00000020286.6 IPYR_MOUSE NM_026438 Pp Pyp Q9D819 uc007fge.1 uc007fge.2 uc007fge.3 Reaction=diphosphate + H2O = H(+) + 2 phosphate; Xref=Rhea:RHEA:24576, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:43474; EC=3.6.1.1; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Homodimer. Cytoplasm Belongs to the PPase family. magnesium ion binding inorganic diphosphatase activity cytoplasm phosphate-containing compound metabolic process pyrophosphatase activity hydrolase activity metal ion binding uc007fge.1 uc007fge.2 uc007fge.3 
ENSMUST00000020287.8 Npffr1 ENSMUST00000020287.8 neuropeptide FF receptor 1 (from RefSeq NM_001177511.2) E9Q468 E9Q468_MOUSE ENSMUST00000020287.1 ENSMUST00000020287.2 ENSMUST00000020287.3 ENSMUST00000020287.4 ENSMUST00000020287.5 ENSMUST00000020287.6 ENSMUST00000020287.7 NM_001177511 Npffr1 uc007fgd.1 uc007fgd.2 uc007fgd.3 uc007fgd.4 Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Cell membrane ; Multi-pass membrane protein Membrane ; Multi-pass membrane protein Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity integral component of plasma membrane cilium signal transduction G-protein coupled receptor signaling pathway neuropeptide signaling pathway neuropeptide receptor activity membrane integral component of membrane cellular response to hormone stimulus uc007fgd.1 uc007fgd.2 uc007fgd.3 uc007fgd.4 
ENSMUST00000020288.15 Eif4ebp2 ENSMUST00000020288.15 eukaryotic translation initiation factor 4E binding protein 2 (from RefSeq NM_010124.2) ENSMUST00000020288.1 ENSMUST00000020288.10 ENSMUST00000020288.11 ENSMUST00000020288.12 ENSMUST00000020288.13 ENSMUST00000020288.14 ENSMUST00000020288.2 ENSMUST00000020288.3 ENSMUST00000020288.4 ENSMUST00000020288.5 ENSMUST00000020288.6 ENSMUST00000020288.7 ENSMUST00000020288.8 ENSMUST00000020288.9 Eif4ebp2 NM_010124 Q3UFP6 Q3UFP6_MOUSE uc007fga.1 uc007fga.2 uc007fga.3 Belongs to the eIF4E-binding protein family. eukaryotic initiation factor 4E binding negative regulation of translational initiation postsynapse uc007fga.1 uc007fga.2 uc007fga.3 
ENSMUST00000020289.10 Pald1 ENSMUST00000020289.10 phosphatase domain containing, paladin 1, transcript variant 1 (from RefSeq NM_013753.2) A0A0R4J007 A0A0R4J007_MOUSE ENSMUST00000020289.1 ENSMUST00000020289.2 ENSMUST00000020289.3 ENSMUST00000020289.4 ENSMUST00000020289.5 ENSMUST00000020289.6 ENSMUST00000020289.7 ENSMUST00000020289.8 ENSMUST00000020289.9 NM_013753 Pald1 uc007ffx.1 uc007ffx.2 uc007ffx.3 uc007ffx.4 Cytoplasm, cytosol Belongs to the paladin family. cytosol uc007ffx.1 uc007ffx.2 uc007ffx.3 uc007ffx.4 
ENSMUST00000020298.8 Pcbd1 ENSMUST00000020298.8 pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1 (from RefSeq NM_025273.4) Dcoh ENSMUST00000020298.1 ENSMUST00000020298.2 ENSMUST00000020298.3 ENSMUST00000020298.4 ENSMUST00000020298.5 ENSMUST00000020298.6 ENSMUST00000020298.7 NM_025273 P61458 P70519 P80095 PHS_MOUSE Pcbd Q9D930 uc007ffj.1 uc007ffj.2 uc007ffj.3 uc007ffj.4 uc007ffj.5 This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. [provided by RefSeq, Apr 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK007401.1, BY707492.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## multifunctional gene product(s) :: PMID: 12011081 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity (By similarity). Also acts as a coactivator for HNF1B-dependent transcription (By similarity). Reaction=(4aS,6R)-4a-hydroxy-L-erythro-5,6,7,8-tetrahydrobiopterin = (6R)-L-erythro-6,7-dihydrobiopterin + H2O; Xref=Rhea:RHEA:11920, ChEBI:CHEBI:15377, ChEBI:CHEBI:15642, ChEBI:CHEBI:43120; EC=4.2.1.96; Evidence=; Homotetramer and homodimer. Heterotetramer with HNF1A; formed by a dimer of dimers (By similarity). Interacts with HNF1B (via HNF-p1 domain); the interaction increases HNF1B transactivation activity (By similarity). Cytoplasm Nucleus Note=Recruited to the nucleus through the interaction with HNF1B. Mainly expressed in the liver, in pancreatic cells, and in the kidney, especially in the distal convoluted tubule, in the cortical thick ascending limb of Henle's loop and in the connecting tubule. Up-regulated by a low magnesium-containing diet. Belongs to the pterin-4-alpha-carbinolamine dehydratase family. transcription coactivator activity phenylalanine 4-monooxygenase activity protein binding nucleus nucleoplasm cytoplasm cytosol L-phenylalanine metabolic process tetrahydrobiopterin biosynthetic process 4-alpha-hydroxytetrahydrobiopterin dehydratase activity lyase activity identical protein binding regulation of protein binding regulation of protein homodimerization activity positive regulation of transcription, DNA-templated oxidation-reduction process uc007ffj.1 uc007ffj.2 uc007ffj.3 uc007ffj.4 uc007ffj.5 
ENSMUST00000020301.14 Vsir ENSMUST00000020301.14 V-set immunoregulatory receptor, transcript variant 1 (from RefSeq NM_028732.4) A0A171EBK7 A0A171EBK7_MOUSE ENSMUST00000020301.1 ENSMUST00000020301.10 ENSMUST00000020301.11 ENSMUST00000020301.12 ENSMUST00000020301.13 ENSMUST00000020301.2 ENSMUST00000020301.3 ENSMUST00000020301.4 ENSMUST00000020301.5 ENSMUST00000020301.6 ENSMUST00000020301.7 ENSMUST00000020301.8 ENSMUST00000020301.9 NM_028732 Vsir uc007few.1 uc007few.2 uc007few.3 plasma membrane positive regulation of gene expression positive regulation of endopeptidase activity membrane integral component of membrane enzyme binding positive regulation of cell migration zymogen activation negative regulation of interferon-gamma production negative regulation of interleukin-10 production negative regulation of interleukin-17 production negative regulation of tumor necrosis factor production identical protein binding positive regulation of regulatory T cell differentiation regulation of immune response endopeptidase activator activity negative regulation of CD4-positive, alpha-beta T cell proliferation negative regulation of CD8-positive, alpha-beta T cell proliferation uc007few.1 uc007few.2 uc007few.3 
ENSMUST00000020308.5 Ddit4 ENSMUST00000020308.5 DNA-damage-inducible transcript 4 (from RefSeq NM_029083.2) DDIT4_MOUSE Dig2 ENSMUST00000020308.1 ENSMUST00000020308.2 ENSMUST00000020308.3 ENSMUST00000020308.4 NM_029083 Q9D3F7 Redd1 Rtp801 uc007fee.1 uc007fee.2 uc007fee.3 Regulates cell growth, proliferation and survival via inhibition of the activity of the mammalian target of rapamycin complex 1 (mTORC1). Inhibition of mTORC1 is mediated by a pathway that involves DDIT4/REDD1, AKT1, the TSC1-TSC2 complex and the GTPase RHEB. Plays an important role in responses to cellular energy levels and cellular stress, including responses to hypoxia and DNA damage. Regulates p53/TP53-mediated apoptosis in response to DNA damage via its effect on mTORC1 activity. Its role in the response to hypoxia depends on the cell type; it mediates mTORC1 inhibition in fibroblasts and thymocytes, but not in hepatocytes. Inhibits neuronal differentiation and neurite outgrowth mediated by NGF via its effect on mTORC1 activity. Required for normal neuron migration during embryonic brain development. Plays a role in neuronal cell death. Required for mTORC1-mediated defense against viral protein synthesis and virus replication. Monomer. Interacts with BTRC. Identified in a complex with CUL4A, DDB1 and BTRC. Interacts with TXNIP; this inhibits the proteasomal degradation of DDIT4 (By similarity). Mitochondrion Cytoplasm, cytosol Ubiquitously expressed. Expressed at 7 dpc. At 11 dpc, expressed in the apical ectodermal ridge. At 13.5 dpc, expressed in the whisker pad, eyelid, breast primordia and developing limb. At 14.5 dpc, expressed in supraorbital and suborbital follicles, whisker pad, limbs and patches of developing epidermis. By dexamethasone, heat-shock or osmotic stress. Up-regulated by hypoxia, in a HIF1A-dependent but TP53-independent mechanism. Up- regulated upon energy stress. Up-regulated in brain from MPTP- intoxicated mice, a model for Parkinson disease (at protein level). Up- regulated by hypoxia in bowel, liver, spleen, heart, lung, brain and kidney. Phosphorylated by GSK3B; this promotes proteasomal degradation. Polyubiquitinated by a DCX (DDB1-CUL4A-RBX1) E3 ubiquitin-protein ligase complex with BTRC as substrate-recognition component, leading to its proteasomal degradation. No visible phenotype. Mice are normal and less sensitive to oxygen-induced retinopathy. Mitochondria show increased production of reactive oxygen species. Newborn mice show increased radiation-induced apoptosis in brain and thymus, due to increased levels of TP53 and increased TP53 activity. Likewise, cultured embryonic fibroblasts are highly sensitive to DNA damage caused by UV irradiation or doxomycin and display increased levels of TP53 and increased TP53 activity, leading to increased apoptosis. Cultured embryonic fibroblasts are more susceptible to cell death caused by influenza virus infection and produce about 200 times more virus particles than wild-type. Belongs to the DDIT4 family. response to hypoxia neuron migration cytoplasm mitochondrion cytosol apoptotic process brain development cell proliferation negative regulation of signal transduction negative regulation of peptidyl-threonine phosphorylation neuron differentiation regulation of TOR signaling negative regulation of TOR signaling macromolecular complex disassembly negative regulation of peptidyl-serine phosphorylation intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator negative regulation of glycolytic process neurotrophin TRK receptor signaling pathway defense response to virus cellular response to dexamethasone stimulus 14-3-3 protein binding reactive oxygen species metabolic process positive regulation of neuron death negative regulation of intracellular signal transduction uc007fee.1 uc007fee.2 uc007fee.3 
ENSMUST00000020312.13 Mcu ENSMUST00000020312.13 mitochondrial calcium uniporter (from RefSeq NM_001033259.4) B2RTD1 ENSMUST00000020312.1 ENSMUST00000020312.10 ENSMUST00000020312.11 ENSMUST00000020312.12 ENSMUST00000020312.2 ENSMUST00000020312.3 ENSMUST00000020312.4 ENSMUST00000020312.5 ENSMUST00000020312.6 ENSMUST00000020312.7 ENSMUST00000020312.8 ENSMUST00000020312.9 MCU_MOUSE Mcu NM_001033259 Q3TTK3 Q3UMR5 uc007fdt.1 uc007fdt.2 uc007fdt.3 uc007fdt.4 Mitochondrial inner membrane calcium uniporter that mediates calcium uptake into mitochondria (PubMed:21685886, PubMed:23900286, PubMed:24212091). Constitutes the pore-forming and calcium-conducting subunit of the uniporter complex (uniplex) (By similarity). Activity is regulated by MICU1 and MICU2 (By similarity). At low Ca(2+) levels MCU activity is down-regulated by MICU1 and MICU2; at higher Ca(2+) levels MICU1 increases MCU activity (By similarity). Mitochondrial calcium homeostasis plays key roles in cellular physiology and regulates cell bioenergetics, cytoplasmic calcium signals and activation of cell death pathways (By similarity). Involved in buffering the amplitude of systolic calcium rises in cardiomyocytes (By similarity). While dispensable for baseline homeostatic cardiac function, acts as a key regulator of short-term mitochondrial calcium loading underlying a 'fight-or-flight' response during acute stress: acts by mediating a rapid increase of mitochondrial calcium in pacemaker cells (PubMed:26119742, PubMed:26119731, PubMed:25603276). Participates in mitochondrial permeability transition during ischemia-reperfusion injury (PubMed:26119731). Regulates glucose-dependent insulin secretion in pancreatic beta-cells by regulating mitochondrial calcium uptake (By similarity). Mitochondrial calcium uptake in skeletal muscle cells is involved in muscle size in adults (PubMed:25732818). Regulates synaptic vesicle endocytosis kinetics in central nerve terminal (PubMed:26644474). Involved in antigen processing and presentation (PubMed:25251370). Inhibited by ruthenium red or its derivative Ru360. Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1 (By similarity). Heterooligomer with CCDC109B/MCUB; this inhibits channel activity (PubMed:23900286). Homooligomer. Homotetramer (PubMed:23900286). Interacts with MICU1; MICU1 acts as an essential regulator for MCU. Interacts with MCUR1. Interactions with MICU1 and MCUR1 are mutually exclusive. Interacts with MICU2 (By similarity). Interacts with SLC25A23 (By similarity). Q3UMR5; Q810S1: Mcub; NbExp=3; IntAct=EBI-776370, EBI-8847756; Mitochondrion inner membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q3UMR5-1; Sequence=Displayed; Name=2; IsoId=Q3UMR5-2; Sequence=VSP_024264, VSP_024265; Detected in heart muscle (at protein level) (PubMed:26057074). Expressed in skeletal muscle, heart, kidney, liver, brain, lung, white fat and spleen. The N-terminal domain is required for efficient Ca(2+) uptake and for interaction with MCUR1. It is not required for targeting to the mitochondria, oligomerization, interaction with MICU1 and MICU2, or assembly of the uniplex complex. Forms a well-packed pentamer with an overall cylindrical shape. The inner core of the pentamer is formed with the second transmembrane region and the second coiled-coil region: while the transmembrane regions pack into a five-helix bundle having a largely polar pore across the membrane, the coiled-coil outside the membrane forms a pentamer with a hydrophobic core. The inner core is wrapped by the first transmembrane region through contacts between the first and the second transmembrane regions. The second transmembrane is followed by the inner juxtamembrane region (IJMH) that orients at a wide angle relative to the second transmembrane. The two core domains are held together on the periphery by the outer juxtamembrane helix (OJMH). The critical DXXE motif connecting the transmembrane regions forms a pentameric barrel that constitutes the mouth of the pore. Inside the barrel, two acidic residues are in position to form two carboxylate rings. In absence of SMDT1/EMRE regulator, the calcium ions cannot exit the channel, suggesting that SMDT1/EMRE-binding induces conformational rearrangements to allow calcium to exit. Phosphorylation by CaMK2 in heart leads to increased MCU current. The regulation of MCU by CaMK2 is however subject to discussion: another group was unable to reproduce these results. Phosphorylated on tyrosines by PTK2B/PYK2, promoting oligomerization. No visible phenotype (PubMed:24212091, PubMed:26057074). Although slightly smaller, mice are grossly normal. Only minor alterations in basal energetics are observed. Cells show a strong reduction, but not a complete absence, of mitochondrial matrix calcium. The skeletal muscles exhibit alterations in the phosphorylation and activity of pyruvate dehydrogenase and mice show defects in ability to perform strenuous work. Mitochondria lack evidence for calcium-induced permeability transition pore (PTP) opening (PubMed:24212091). Mitochondria from mutant mouse heart muscle have impaired Ca(2+) uptake and reduced Ca(2+) levels in the mitochondrial matrix; still, mutant mice have apparently normal heart function and display no cardiac defects (PubMed:26057074). Conditional mutant mice with cardiomyocyte-specific deletion of Mcu in adults display no overt baseline phenotype and are protected against mitochondrial calcium overload by preventing the activation of the mitochondrial permeability transition pore (PubMed:26119742, PubMed:26119731). Mice however lack contractile responsiveness to acute stress and 'fight-or-flight' response: they produce mitochondria refractory to acute calcium uptake, with impaired ATP production and inhibited mitochondrial permeability transition pore opening upon acute calcium challenge (PubMed:26119742, PubMed:26119731). Belongs to the MCU (TC 1.A.77) family. calcium channel activity protein binding mitochondrion mitochondrial inner membrane ion transport calcium ion transport mitochondrial calcium ion transport uniporter activity membrane integral component of membrane calcium-mediated signaling integral component of mitochondrial inner membrane positive regulation of insulin secretion calcium channel complex mitochondrial calcium uptake glucose homeostasis identical protein binding protein oligomerization mitochondrial calcium ion homeostasis positive regulation of mitochondrial calcium ion concentration calcium ion transmembrane transport uniplex complex uc007fdt.1 uc007fdt.2 uc007fdt.3 uc007fdt.4 
ENSMUST00000020315.13 Cand1 ENSMUST00000020315.13 cullin associated and neddylation disassociated 1 (from RefSeq NM_027994.1) CAND1_MOUSE D10Ertd516e ENSMUST00000020315.1 ENSMUST00000020315.10 ENSMUST00000020315.11 ENSMUST00000020315.12 ENSMUST00000020315.2 ENSMUST00000020315.3 ENSMUST00000020315.4 ENSMUST00000020315.5 ENSMUST00000020315.6 ENSMUST00000020315.7 ENSMUST00000020315.8 ENSMUST00000020315.9 Kiaa0829 NM_027994 Q6PFR0 Q6ZQ38 Q9CV45 uc007hec.1 uc007hec.2 uc007hec.3 uc007hec.4 Key assembly factor of SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complexes that promotes the exchange of the substrate- recognition F-box subunit in SCF complexes, thereby playing a key role in the cellular repertoire of SCF complexes. Acts as a F-box protein exchange factor. The exchange activity of CAND1 is coupled with cycles of neddylation conjugation: in the deneddylated state, cullin-binding CAND1 binds CUL1-RBX1, increasing dissociation of the SCF complex and promoting exchange of the F-box protein. Probably plays a similar role in other cullin-RING E3 ubiquitin ligase complexes (By similarity). Interacts with TBP (By similarity). Part of a complex that contains CUL1 and RBX1. Interacts with unneddylated cullins: interacts with CUL1, CUL2, CUL3, CUL4A, CUL4B and CUL5. Does not bind neddylated CUL1. Interaction with cullins is abolished in presence of COMMD1, which antagonizes with CAND1 for interacting with cullins. Interacts with ERCC6 (By similarity). Interacts with DCUN1D1, DCUN1D2, DCUN1D3, DCUN1D4 and DCUN1D5; these interactions are bridged by cullins and strongly inhibits the neddylation of cullins (By similarity). Cytoplasm Nucleus Note=Predominantly cytoplasmic. Belongs to the CAND family. Sequence=AAH57457.1; Type=Erroneous initiation; Evidence=; Sequence=BAB26438.1; Type=Erroneous initiation; Evidence=; Sequence=BAC98035.1; Type=Erroneous initiation; Evidence=; ubiquitin ligase complex protein binding nucleus nucleoplasm cytoplasm Golgi apparatus cytosol SCF complex assembly protein ubiquitination TBP-class protein binding cell differentiation cullin-RING ubiquitin ligase complex negative regulation of catalytic activity positive regulation of transcription, DNA-templated positive regulation of RNA polymerase II transcriptional preinitiation complex assembly uc007hec.1 uc007hec.2 uc007hec.3 uc007hec.4 
ENSMUST00000020316.4 Tbk1 ENSMUST00000020316.4 TANK-binding kinase 1 (from RefSeq NM_019786.4) ENSMUST00000020316.1 ENSMUST00000020316.2 ENSMUST00000020316.3 NM_019786 Q9CT90 Q9DC03 Q9WUN2 TBK1_MOUSE Tbk1 uc007hft.1 uc007hft.2 uc007hft.3 uc007hft.4 uc007hft.5 uc007hft.6 Serine/threonine kinase that plays an essential role in regulating inflammatory responses to foreign agents (PubMed:10581243, PubMed:15210742, PubMed:15661922). Following activation of toll-like receptors by viral or bacterial components, associates with TRAF3 and TANK and phosphorylates interferon regulatory factors (IRFs) IRF3 and IRF7 as well as DDX3X (By similarity). This activity allows subsequent homodimerization and nuclear translocation of the IRFs leading to transcriptional activation of pro-inflammatory and antiviral genes including IFNA and IFNB (By similarity). In order to establish such an antiviral state, TBK1 form several different complexes whose composition depends on the type of cell and cellular stimuli (By similarity). Thus, several scaffolding molecules including FADD, TRADD, MAVS, AZI2, TANK or TBKBP1/SINTBAD can be recruited to the TBK1- containing-complexes (By similarity). Plays a key role in IRF3 activation: acts by first phosphorylating innate adapter proteins MAVS, STING1 and TICAM1 on their pLxIS motif, leading to recruitment of IRF3, thereby licensing IRF3 for phosphorylation by TBK1 (By similarity). Under particular conditions, functions as a NF-kappa-B effector by phosphorylating NF-kappa-B inhibitor alpha/NFKBIA, IKBKB or RELA to translocate NF-Kappa-B to the nucleus (By similarity). Restricts bacterial proliferation by phosphorylating the autophagy receptor OPTN/Optineurin on 'Ser-177', thus enhancing LC3 binding affinity and antibacterial autophagy (By similarity). Phosphorylates SMCR8 component of the C9orf72-SMCR8 complex, promoting autophagosome maturation (By similarity). Phosphorylates ATG8 proteins MAP1LC3C and GABARAPL2, thereby preventing their delipidation and premature removal from nascent autophagosomes (By similarity). Phosphorylates and activates AKT1 (By similarity). Seems to play a role in energy balance regulation by sustaining a state of chronic, low-grade inflammation in obesity, wich leads to a negative impact on insulin sensitivity (PubMed:23396211). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Kinase activity is inhibited competitively by amlexanox. Homodimer (PubMed:23746807). Interacts with DDX3X, TIRAP and TRAF2 (By similarity). Part of a ternary complex consisting of TANK, TRAF2 and TBK1 (By similarity). Interacts with AZI2, TANK and TBKBP1; these interactions are mutually exclusive and mediate TBK1 activation (By similarity). Interacts with GSK3B; this interaction promotes TBK1 self-association and autophosphorylation (By similarity). Interacts with SIKE1; SIKE1 is associated with TBK1 under physiological condition and dissociated from TBK1 upon viral infection or TLR3 stimulation (By similarity). Interacts with IRF3, leading to IRF3 phosphorylation (By similarity). Interacts with RIGI (By similarity). Interacts with CYLD (By similarity). Interacts with OPTN and TRAF3 (By similarity). Interacts with SRC (By similarity). Interacts with the exocyst complex subunit SEC5/EXOC2; this interaction is sufficient to trigger TBK1 activity (By similarity). Interacts with STING1, leading to STING1 phosphorylation (By similarity). Interacts with IFIT3 (via N-terminus) (By similarity). Interacts with MAVS; interaction only takes place in the presence of IFIT3 and leads to MAVS phosphorylation (By similarity). Interacts (via protein kinase domain) with TTLL12 (via TTL domain); the interaction prevents MAVS binding to TBK1 (By similarity). Interacts with TICAM1; this interaction is enhanced in the presence of WDFY1 and leads to TICAM1 phosphorylation (By similarity). Interacts with TRIM26 (By similarity). Interacts with TRIM23 (By similarity). Interacts with TTC4 and IKBKE (By similarity). Interacts with HNRNPA2B1 (PubMed:31320558). Interacts with DDX3X (By similarity). Interacts with TRIM14 (By similarity). Interacts with CEP170; efficient complex formation may be dependent on the presence of CCDC61 (By similarity). Interacts with TRAF3IP3 (By similarity). Interacts with HSP90AA1; the interaction mediates TBK1 association with TOMM70 (By similarity). Interacts with TAX1BP1 (By similarity). Q9WUN2; Q3TBT3: Sting1; NbExp=3; IntAct=EBI-764193, EBI-3862093; Q9WUN2; P70347: Tank; NbExp=7; IntAct=EBI-764193, EBI-646116; Q9WUN2; Q9WUN2: Tbk1; NbExp=5; IntAct=EBI-764193, EBI-764193; Q9WUN2; A2A9T0: Tbkbp1; NbExp=2; IntAct=EBI-764193, EBI-7987134; Q9WUN2; Q80UF7: Ticam1; NbExp=2; IntAct=EBI-764193, EBI-3649271; Q9WUN2; O41932: GAMMAHV.ORF11; Xeno; NbExp=3; IntAct=EBI-764193, EBI-9544132; Cytoplasm Note=Upon mitogen stimulation or triggering of the immune system, TBK1 is recruited to the exocyst by EXOC2. Comprises A N-terminal kinase domain, a ubiquitin-like domain and a C-terminal coiled-coil region mediating homodimerization. Autophosphorylation at Ser-172 activates the kinase, and is an essential step for virus-triggered signaling. Phosphorylated by IKBKB/IKKB at Ser-172. Phosphorylation requires homodimerization and ubiquitination at Lys-30 and Lys-401. Dephosphorylated at Ser-172 by PPM1B and this negatively regulates its role in mediating antiviral response. 'Lys-63'-linked polyubiquitination by MIB1 after RNA virus infection, or by NRDP1 after LPS stimulation at Lys-30 and Lys-401, participates in kinase activation. 'Lys-48'-linked polyubiquitination at Lys-670 by DTX4 leads to proteasomal degradation. 'Lys-48'-linked polyubiquitination by TRAIP also leads to proteasomal degradation. 'Lys-48'-linked polyubiquitination by TRAF7; leading to proteasomal degradation. 'Lys-63'-linked polyubiquitination by RNF128 at Lys-30 and Lys-401 leads to the activation of antiviral responses. 'Lys-48'-linked polyubiquitination after 'lys-33'-linked deubiquitination by USP38 promotes TBK1 degradation. Mice display embryonic lethality at 14.5 dpc due to massive liver degeneration and apoptosis. Embryonic fibroblasts from mice lacking Tbk1 exhibit dramatically reduced transcription of NF- kappa-B, as well as marked defects in interferon alpha and beta, and RANTES gene expression after infection with Sendai or Newcastle disease virus. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. I-kappa-B kinase subfamily. nucleotide binding activation of innate immune response immune system process nucleic acid binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleoplasm cytoplasm cytosol protein phosphorylation regulation of gene expression negative regulation of gene expression aggresome positive regulation of macroautophagy kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation protein phosphatase binding regulation of cellular metabolic process regulation of type I interferon production positive regulation of interferon-alpha production positive regulation of interferon-beta production identical protein binding positive regulation of I-kappaB kinase/NF-kappaB signaling dendritic cell proliferation innate immune response positive regulation of interferon-beta biosynthetic process positive regulation of transcription from RNA polymerase II promoter defense response to Gram-positive bacterium phosphoprotein binding defense response to virus positive regulation of type I interferon-mediated signaling pathway positive regulation of xenophagy uc007hft.1 uc007hft.2 uc007hft.3 uc007hft.4 uc007hft.5 uc007hft.6 
ENSMUST00000020317.8 Pno1 ENSMUST00000020317.8 partner of NOB1 homolog (from RefSeq NM_025443.2) ENSMUST00000020317.1 ENSMUST00000020317.2 ENSMUST00000020317.3 ENSMUST00000020317.4 ENSMUST00000020317.5 ENSMUST00000020317.6 ENSMUST00000020317.7 NM_025443 PNO1_MOUSE Q9CPS7 uc007icc.1 uc007icc.2 uc007icc.3 uc007icc.4 Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre- rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre- ribosomal RNA by the RNA exosome. Positively regulates dimethylation of two adjacent adenosines in the loop of a conserved hairpin near the 3'- end of 18S rRNA. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3. Nucleus, nucleolus Belongs to the PNO1 family. nucleic acid binding RNA binding nucleus nucleolus biological_process uc007icc.1 uc007icc.2 uc007icc.3 uc007icc.4 
ENSMUST00000020322.12 Srgap1 ENSMUST00000020322.12 SLIT-ROBO Rho GTPase activating protein 1, transcript variant 2 (from RefSeq NM_001242411.1) Arhgap13 ENSMUST00000020322.1 ENSMUST00000020322.10 ENSMUST00000020322.11 ENSMUST00000020322.2 ENSMUST00000020322.3 ENSMUST00000020322.4 ENSMUST00000020322.5 ENSMUST00000020322.6 ENSMUST00000020322.7 ENSMUST00000020322.8 ENSMUST00000020322.9 NM_001242411 Q08E84 Q91Z69 SRGP1_MOUSE uc007hgc.1 uc007hgc.2 uc007hgc.3 uc007hgc.4 GTPase-activating protein for RhoA and Cdc42 small GTPases. Together with CDC42 seems to be involved in the pathway mediating the repulsive signaling of Robo and Slit proteins in neuronal migration. SLIT2, probably through interaction with ROBO1, increases the interaction of SRGAP1 with ROBO1 and inactivates CDC42 (By similarity). Homodimer (Probable). Forms a heterooligomer with SRGAP2 and SRGAP3 through its F-BAR domain. Interacts with CDC42 and RHOA. Interacts with FASLG (By similarity). Interacts (via SH3 domain) with ROBO1. The F-BAR domain mediates oligomerization, binds membranes, and constrains plasma membrane protrusions. Sequence=AAL27030.1; Type=Erroneous initiation; Evidence=; GTPase activator activity protein binding cytoplasm signal transduction Rho protein signal transduction cell migration Rho GTPase binding negative regulation of cell migration positive regulation of GTPase activity Rac GTPase binding uc007hgc.1 uc007hgc.2 uc007hgc.3 uc007hgc.4 
ENSMUST00000020323.7 Avpr1a ENSMUST00000020323.7 arginine vasopressin receptor 1A (from RefSeq NM_016847.2) ENSMUST00000020323.1 ENSMUST00000020323.2 ENSMUST00000020323.3 ENSMUST00000020323.4 ENSMUST00000020323.5 ENSMUST00000020323.6 NM_016847 Q62463 Q62464 Q9QYH2 V1AR_MOUSE uc007hge.1 uc007hge.2 uc007hge.3 This gene encodes a receptor for arginine vasopressin, a neurohypophyseal hormone involved in diuresis inhibition, smooth muscle contraction, liver glycogenolysis stimulation and regulation of adrenocorticotropic hormone release from the pituitary. This receptor represents one of three G protein-coupled arginine vasopressin receptors which functions through a phosphotidylinositol-calcium second messenger system in vascular and hepatic tissues [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: D49730.1, BC024149.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl- inositol-calcium second messenger system. Involved in social memory formation. Cell membrane; Multi-pass membrane protein. Knockout mice display deficits in individual discrimination. Male mice lacking functional AVPR1A (V1aRKO) exhibit markedly reduced anxiety-like behavior and a profound impairment in social recognition. V1aRKO performed normally on spatial and non-social olfactory learning and memory tasks. Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily. regulation of systemic arterial blood pressure by vasopressin maternal aggressive behavior positive regulation of systemic arterial blood pressure G-protein coupled receptor activity vasopressin receptor activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration negative regulation of female receptivity grooming behavior positive regulation of cell proliferation response to organic substance response to inorganic substance positive regulation of heart rate positive regulation of glutamate secretion myotube differentiation membrane integral component of membrane peptide hormone binding calcium-mediated signaling telencephalon development positive regulation of cell growth positive regulation of prostaglandin biosynthetic process cytoplasmic vesicle V1A vasopressin receptor binding positive regulation of cellular pH reduction cellular response to hormone stimulus social behavior positive regulation of renal sodium excretion cellular response to water deprivation maternal behavior sperm ejaculation penile erection positive regulation of blood pressure positive regulation of vasoconstriction response to corticosterone negative regulation of transmission of nerve impulse uc007hge.1 uc007hge.2 uc007hge.3 
ENSMUST00000020329.13 Egfr ENSMUST00000020329.13 epidermal growth factor receptor, transcript variant 1 (from RefSeq NM_207655.2) EGFR_MOUSE ENSMUST00000020329.1 ENSMUST00000020329.10 ENSMUST00000020329.11 ENSMUST00000020329.12 ENSMUST00000020329.2 ENSMUST00000020329.3 ENSMUST00000020329.4 ENSMUST00000020329.5 ENSMUST00000020329.6 ENSMUST00000020329.7 ENSMUST00000020329.8 ENSMUST00000020329.9 Egfr NM_207655 Q01279 uc007ibo.1 uc007ibo.2 uc007ibo.3 Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:8404850). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF. Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates at least 4 major downstream signaling cascades including the RAS-RAF-MEK-ERK, PI3 kinase-AKT, PLCgamma-PKC and STATs modules. May also activate the NF-kappa-B signaling cascade. Also directly phosphorylates other proteins like RGS16, activating its GTPase activity and probably coupling the EGF receptor signaling to the G protein-coupled receptor signaling. Also phosphorylates MUC1 and increases its interaction with SRC and CTNNB1/beta-catenin (By similarity). Positively regulates cell migration via interaction with CCDC88A/GIV which retains EGFR at the cell membrane following ligand stimulation, promoting EGFR signaling which triggers cell migration (By similarity). Plays a role in enhancing learning and memory performance (PubMed:20639532). Plays a role in mammalian pain signaling (long- lasting hypersensitivity) (PubMed:35131940). Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence=; Endocytosis and inhibition of the activated EGFR by phosphatases like PTPRJ and PTPRK constitute immediate regulatory mechanisms. Upon EGF-binding phosphorylates EPS15 that regulates EGFR endocytosis and activity. Moreover, inducible feedback inhibitors including LRIG1, SOCS4, SOCS5 and ERRFI1 constitute alternative regulatory mechanisms for the EGFR signaling. Binding of the ligand triggers homo- and/or heterodimerization of the receptor triggering its autophosphorylation. Heterodimer with ERBB2. Forms a complex with CCDC88A/GIV (via SH2-like region) and GNAI3 which leads to enhanced EGFR signaling and triggering of cell migration; binding of CCDC88A requires autophosphorylation of the EGFR C-terminal region, and ligand stimulation is required for recruitment of GNAI3 to the complex (By similarity). Interacts with ERRFI1; inhibits dimerization of the kinase domain and autophosphorylation. Part of a complex with ERBB2 and either PIK3C2A or PIK3C2B. Interacts with GRB2; an adapter protein coupling the receptor to downstream signaling pathways. Interacts with GAB2; involved in signaling downstream of EGFR. Interacts with STAT3; mediates EGFR downstream signaling in cell proliferation. Interacts with RIPK1; involved in NF- kappa-B activation. Interacts (autophosphorylated) with CBL, CBLB and CBLC; involved in EGFR ubiquitination and regulation; interaction with CBL is reduced in the presence of tensin TNS4. Interacts with SOCS5; regulates EGFR degradation through ELOC- and ELOB-mediated ubiquitination and proteasomal degradation. Interacts with PRMT5; methylates EGFR and enhances interaction with PTPN6. Interacts (phosphorylated) with PTPN6; inhibits EGFR-dependent activation of MAPK/ERK. Interacts with COPG1; essential for regulation of EGF- dependent nuclear transport of EGFR by retrograde trafficking from the Golgi to the ER. Interacts with TNK2; this interaction is dependent on EGF stimulation and kinase activity of EGFR. Interacts with PCNA; positively regulates PCNA. Interacts with PELP1. Interacts with MUC1. Interacts with AP2M1. Interacts with FER. Interacts (via SH2 domains) with GRB2, NCK1 and NCK2. Interacts with EPS8; mediates EPS8 phosphorylation. Interacts with ATXN2. Interacts with GAREM1. Interacts (ubiquitinated) with ANKRD13A/B/D; the interaction is direct and may regulate EGFR internalization after EGF stimulation. Interacts with GPER1; the interaction occurs in an estrogen-dependent manner. Interacts (via C-terminal cytoplasmic kinase domain) with ZPR1 (via zinc fingers). Interacts with RNF115 and RNF126. Interacts with GPRC5A (via its transmembrane domain) (PubMed:25744720). Interacts with FAM83B; positively regulates EGFR inducing its autophosphorylation in absence of stimulation by EGF (By similarity). Interacts with LAPTM4B; positively correlates with EGFR activation (By similarity). Interacts with STX19 (PubMed:16420529). Interacts with CD44 (By similarity). Interacts with PGRMC1; the interaction requires PGRMC1 homodimerization (By similarity). Interacts with PIKFYVE (PubMed:17909029). Interacts with NEU3. Interacts with TRAF4. Interacts with the ant venom OMEGA- myrmeciitoxin(02)-Mg1a (PubMed:35131940). Q01279; P22682: Cbl; NbExp=2; IntAct=EBI-6296235, EBI-640919; Q01279; P32883: Kras; NbExp=3; IntAct=EBI-6296235, EBI-644267; Q01279; Q15109: AGER; Xeno; NbExp=2; IntAct=EBI-6296235, EBI-1646426; Q01279; P01133: EGF; Xeno; NbExp=3; IntAct=EBI-6296235, EBI-640857; Cell membrane ; Single-pass type I membrane protein Endoplasmic reticulum membrane ; Single- pass type I membrane protein Golgi apparatus membrane ; Single-pass type I membrane protein Nucleus membrane ; Single-pass type I membrane protein Endosome Endosome membrane Nucleus Note=In response to EGF, translocated from the cell membrane to the nucleus via Golgi and ER. Endocytosed upon activation by ligand. Colocalized with GPER1 in the nucleus of estrogen agonist-induced cancer-associated fibroblasts (CAF). Monoubiquitinated and polyubiquitinated upon EGF stimulation; which does not affect tyrosine kinase activity or signaling capacity but may play a role in lysosomal targeting. Polyubiquitin linkage is mainly through 'Lys-63', but linkage through 'Lys-48', 'Lys-11' and 'Lys-29' also occurs. Deubiquitinated by OTUD7B, preventing degradation (By similarity). Ubiquitinated by RNF115 and RNF126. Ubiquitinated by ZNRF1 or CBL at different lysines in response to EGF stimulation; leading to recruitment of the ESCRT machinery and subsequent degradation in the lysosomes (By similarity). Deubiquitinated by UCHL1 leading to the inhibition of its degradation (PubMed:32494592). Phosphorylated on Tyr residues in response to EGF. Phosphorylation at Ser-697 is partial and occurs only if Thr-695 is phosphorylated. Phosphorylation at Thr-680 and Thr-695 by PRKD1 inhibits EGF-induced MAPK8/JNK1 activation. Dephosphorylation by PTPRJ prevents endocytosis and stabilizes the receptor at the plasma membrane. Autophosphorylation at Tyr-1199 is stimulated by methylation at Arg-1199 and enhances interaction with PTPN6. Autophosphorylation at Tyr-1092 and/or Tyr-1110 recruits STAT3. Dephosphorylated by PTPN1 and PTPN2. Palmitoylated on Cys residues by ZDHHC20. Palmitoylation inhibits internalization after ligand binding, and increases the persistence of tyrosine-phosphorylated EGFR at the cell membrane. Palmitoylation increases the amplitude and duration of EGFR signaling. Methylated. Methylation at Arg-1199 by PRMT5 stimulates phosphorylation at Tyr-1197. Mice are growth retarded and die at different stages of development depending on their genetic background. Embryonic death is due to placental defects. Mice surviving until birth or later display brain, bone, heart and various epithelial development defects in several organs, including skin, lung and gastrointestinal tract. Belongs to the protein kinase superfamily. Tyr protein kinase family. EGF receptor subfamily. Golgi membrane nucleotide binding activation of MAPKK activity cell morphogenesis liver development embryonic placenta development positive regulation of protein phosphorylation hair follicle development chromatin binding protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity transmembrane signaling receptor activity epidermal growth factor-activated receptor activity receptor binding integrin binding protein binding calmodulin binding ATP binding nucleus cytoplasm endosome endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus plasma membrane integral component of plasma membrane translation protein phosphorylation response to osmotic stress response to oxidative stress signal transduction cell surface receptor signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway epidermal growth factor receptor signaling pathway multicellular organism development salivary gland morphogenesis midgut development learning or memory circadian rhythm cell proliferation positive regulation of cell proliferation epidermis development basal plasma membrane cell surface endosome membrane positive regulation of nitric oxide mediated signal transduction magnesium ion homeostasis regulation of phosphatidylinositol 3-kinase signaling response to organic cyclic compound membrane integral component of membrane diterpenoid metabolic process kinase activity phosphorylation basolateral plasma membrane apical plasma membrane transferase activity peptidyl-tyrosine phosphorylation enzyme binding protein kinase binding protein phosphatase binding cerebral cortex cell migration endocytic vesicle cell differentiation nitric-oxide synthase regulator activity positive regulation of cell growth lung development positive regulation of cell migration ubiquitin protein ligase binding early endosome membrane nuclear membrane response to estradiol positive regulation of superoxide anion generation macromolecular complex positive regulation of peptidyl-serine phosphorylation response to cobalamin response to hydroxyisoflavone response to lipid cellular response to reactive oxygen species intracellular signal transduction cellular response to drug peptidyl-tyrosine autophosphorylation wound healing regulation of cell proliferation negative regulation of protein catabolic process positive regulation of phosphorylation ovulation cycle hydrogen peroxide metabolic process identical protein binding negative regulation of apoptotic process receptor complex positive regulation of MAP kinase activity tongue development membrane raft synapse positive regulation of cyclin-dependent protein serine/threonine kinase activity positive regulation of DNA repair positive regulation of DNA replication positive regulation of bone resorption positive regulation of transcription, DNA-templated positive regulation of vasoconstriction negative regulation of mitotic cell cycle positive regulation of transcription from RNA polymerase II promoter regulation of JNK cascade protein autophosphorylation protein heterodimerization activity astrocyte activation positive regulation of fibroblast proliferation epidermal growth factor binding perinuclear region of cytoplasm digestive tract morphogenesis positive regulation of smooth muscle cell proliferation neuron projection morphogenesis positive regulation of epithelial cell proliferation positive regulation of inflammatory response regulation of peptidyl-tyrosine phosphorylation regulation of nitric-oxide synthase activity actin filament binding response to calcium ion positive regulation of protein kinase B signaling positive regulation of synaptic transmission, glutamatergic morphogenesis of an epithelial fold eyelid development in camera-type eye response to UV-A regulation of ERK1 and ERK2 cascade positive regulation of ERK1 and ERK2 cascade cellular response to amino acid stimulus cellular response to mechanical stimulus cellular response to cadmium ion cellular response to growth factor stimulus cellular response to epidermal growth factor stimulus cellular response to estradiol stimulus cellular response to dexamethasone stimulus positive regulation of canonical Wnt signaling pathway liver regeneration multivesicular body, internal vesicle lumen cell-cell adhesion positive regulation of protein kinase C activity positive regulation of G1/S transition of mitotic cell cycle positive regulation of NIK/NF-kappaB signaling positive regulation of prolactin secretion positive regulation of protein localization to early endosome positive regulation of protein localization to plasma membrane positive regulation of production of miRNAs involved in gene silencing by miRNA negative regulation of cardiocyte differentiation uc007ibo.1 uc007ibo.2 uc007ibo.3 
ENSMUST00000020339.10 Tbc1d15 ENSMUST00000020339.10 TBC1 domain family, member 15, transcript variant 2 (from RefSeq NM_025706.4) ENSMUST00000020339.1 ENSMUST00000020339.2 ENSMUST00000020339.3 ENSMUST00000020339.4 ENSMUST00000020339.5 ENSMUST00000020339.6 ENSMUST00000020339.7 ENSMUST00000020339.8 ENSMUST00000020339.9 NM_025706 Q3UI41 Q9CXF4 TBC15_MOUSE uc007hax.1 uc007hax.2 uc007hax.3 uc007hax.4 Acts as a GTPase activating protein for RAB7A. Does not act on RAB4, RAB5 or RAB6. Interacts with non-phosphorylated form of RAB8A; phosphorylation of RAB8A at 'Thr-72' disrupts this interaction (By similarity). Interacts with ARMC12 (By similarity). Cytoplasm Ubiquitous, with highest expression in heart, liver and testis and lower expression in brain, spleen, lung, kidney and skeletal muscle. PubMed:16055087 showns that TBC1D15 can also functions as GTPase activating for RAB11 at a lower extent than for RAB7A, however this function is not confirmed by PubMed:20363736. GTPase activator activity extracellular region cytoplasm mitochondrion intracellular protein transport Rab GTPase binding regulation of GTPase activity activation of GTPase activity uc007hax.1 uc007hax.2 uc007hax.3 uc007hax.4 
ENSMUST00000020340.15 Pcsk4 ENSMUST00000020340.15 proprotein convertase subtilisin/kexin type 4 (from RefSeq NM_008793.2) ENSMUST00000020340.1 ENSMUST00000020340.10 ENSMUST00000020340.11 ENSMUST00000020340.12 ENSMUST00000020340.13 ENSMUST00000020340.14 ENSMUST00000020340.2 ENSMUST00000020340.3 ENSMUST00000020340.4 ENSMUST00000020340.5 ENSMUST00000020340.6 ENSMUST00000020340.7 ENSMUST00000020340.8 ENSMUST00000020340.9 NM_008793 Nec-3 Nec3 P29121 PCSK4_MOUSE Q62094 uc007gcs.1 uc007gcs.2 uc007gcs.3 uc007gcs.4 Proprotein convertase involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. In males, important for ADAM2 processing as well as other acrosomal proteins with roles in fertilization and critical for normal fertilization events such as sperm capacitation, acrosome reaction and binding of sperm to zona pellucida (PubMed:9192653, PubMed:16371590, PubMed:19342015, PubMed:21302280). Also plays a role in female fertility, involved in the regulation of trophoblast migration and placental development, may be through the proteolytical processing and activation of proteins such as IGF2 (By similarity). May also participate in folliculogenesis in the ovaries (PubMed:11164898). The proPCSK4 form interacts with HSPA5; the interaction takes place at the endoplasmic reticulum. Cytoplasmic vesicle, secretory vesicle, acrosome membrane Event=Alternative splicing; Named isoforms=8; Name=1; Synonyms=mPC4-A; IsoId=P29121-1; Sequence=Displayed; Name=2; IsoId=P29121-2; Sequence=VSP_011268; Name=3; Synonyms=mPC4-B; IsoId=P29121-3; Sequence=VSP_011271; Name=4; Synonyms=mPC4-C; IsoId=P29121-4; Sequence=VSP_011272; Name=5; Synonyms=E; IsoId=P29121-5; Sequence=VSP_011266; Name=6; Synonyms=D; IsoId=P29121-6; Sequence=VSP_011267; Name=7; Synonyms=B; IsoId=P29121-7; Sequence=VSP_011269; Name=8; Synonyms=C; IsoId=P29121-8; Sequence=VSP_011270; Expressed abundantly in the testis since postnatal Day 16 (PubMed:1372895, PubMed:16371590, PubMed:21302280). In testis, strongly detected in round and elongated spermatids as well as spermatocytes. Also observed in residual bodies engulfed by Sertoli cells at spermatogenic stages VIII and IX (PubMed:16371590). In ovaries, expressed in macrophage-like cells of the ovarian theca, interstitium and corpora lutea (PubMed:11164898). Detected only after the 20th day of postnatal development. Mainly expressed in the round spermatids. Expressed mainly in the early stages of spermiogenesis. N-glycosylated. Synthesized in the endoplasmic reticulum as a zymogen, is matured by autocatalytic cleavage between the prodomain and the catalytic domain. Knockout males show impaired fertility (PubMed:9192653). Sperm from mutants exhibit accelerated capacitation, precocious acrosome reaction, reduced binding to egg zona pellucida, and impaired fertilizing ability (PubMed:16371590). They have abnormal acrosome formation during spermatogenesis (PubMed:22357636). Sperm proteins are hyper-tyrosine phosphorylated during capacitation (PubMed:19342015). In females, the percent of successful mating is comparable to that of their PCSK4 +/- female littermates, however the average litter size of the former is half that of the latter. Knockout ovaries treated with gonatropin are generally smaller, less hyperemic and with fewer corpora lutea than wild type. This difference is associated with a 20-fold lower level of circulating progesterone (PubMed:9192653). Belongs to the peptidase S8 family. Furin subfamily. acrosomal vesicle acrosomal membrane serine-type endopeptidase activity endoplasmic reticulum lumen trans-Golgi network proteolysis binding of sperm to zona pellucida acrosome reaction peptidase activity serine-type peptidase activity fertilization membrane protein processing peptide hormone processing hydrolase activity reproductive process integral component of Golgi membrane cytoplasmic vesicle sperm capacitation uc007gcs.1 uc007gcs.2 uc007gcs.3 uc007gcs.4 
ENSMUST00000020341.9 2310011J03Rik ENSMUST00000020341.9 RIKEN cDNA 2310011J03 gene (from RefSeq NM_025521.3) CS025_MOUSE ENSMUST00000020341.1 ENSMUST00000020341.2 ENSMUST00000020341.3 ENSMUST00000020341.4 ENSMUST00000020341.5 ENSMUST00000020341.6 ENSMUST00000020341.7 ENSMUST00000020341.8 NM_025521 Q9D7E4 uc007gcq.1 uc007gcq.2 uc007gcq.3 Belongs to the UPF0449 family. molecular_function cellular_component biological_process uc007gcq.1 uc007gcq.2 uc007gcq.3 
ENSMUST00000020343.9 Rab21 ENSMUST00000020343.9 RAB21, member RAS oncogene family (from RefSeq NM_024454.1) ENSMUST00000020343.1 ENSMUST00000020343.2 ENSMUST00000020343.3 ENSMUST00000020343.4 ENSMUST00000020343.5 ENSMUST00000020343.6 ENSMUST00000020343.7 ENSMUST00000020343.8 NM_024454 Q0PD35 Q0PD35_MOUSE Rab21 uc007haz.1 uc007haz.2 uc007haz.3 Belongs to the small GTPase superfamily. Rab family. nucleotide binding GTPase activity GTP binding endosome trans-Golgi network signal transduction anterograde axonal transport cytoplasmic side of plasma membrane vesicle membrane membrane regulation of exocytosis GDP binding regulation of axon extension Rab protein signal transduction Golgi cisterna membrane neuron projection synapse positive regulation of receptor-mediated endocytosis cytoplasmic side of early endosome membrane axon cytoplasm positive regulation of early endosome to late endosome transport uc007haz.1 uc007haz.2 uc007haz.3 
ENSMUST00000020350.15 Lgr5 ENSMUST00000020350.15 leucine rich repeat containing G protein coupled receptor 5 (from RefSeq NM_010195.2) ENSMUST00000020350.1 ENSMUST00000020350.10 ENSMUST00000020350.11 ENSMUST00000020350.12 ENSMUST00000020350.13 ENSMUST00000020350.14 ENSMUST00000020350.2 ENSMUST00000020350.3 ENSMUST00000020350.4 ENSMUST00000020350.5 ENSMUST00000020350.6 ENSMUST00000020350.7 ENSMUST00000020350.8 ENSMUST00000020350.9 Fex Gpr49 LGR5_MOUSE NM_010195 Q3V1L2 Q9Z1P4 uc007hbi.1 uc007hbi.2 uc007hbi.3 The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK132387.1, AF110818.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for R-spondins that potentiates the canonical Wnt signaling pathway and acts as a stem cell marker of the intestinal epithelium and the hair follicle. Upon binding to R-spondins (RSPO1, RSPO2, RSPO3 or RSPO4), associates with phosphorylated LRP6 and frizzled receptors that are activated by extracellular Wnt receptors, triggering the canonical Wnt signaling pathway to increase expression of target genes. In contrast to classical G-protein coupled receptors, does not activate heterotrimeric G-proteins to transduce the signal. Involved in the development and/or maintenance of the adult intestinal stem cells during postembryonic development. Identified in a complex composed of RNF43, LGR5 and RSPO1 (By similarity). Also interacts with other R-spondin ligands, including RSPO2, RSPO3 and RSPO4 (By similarity). Cell membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network membrane ; Multi-pass membrane protein Note=Rapidly and constitutively internalized to the trans-Golgi network at steady state. Expressed in the intestinal epithelium (at protein level) (PubMed:22510880). Expressed in the gonads, the adrenal gland, and in the brain. In the central nervous system expression is restricted to the olfactory bulb. In the adrenal gland detected only in the neural-crest derived chromaffin cells of the medulla, but not in the cells of the adrenal cortex. In the gonads, the expression is high in Graafian follicle, but absent from primary and secondary follicles. In the intestine, exclusively expressed in cycling crypt base columnar cells. Expressed in the lower bulge and secondary germ area of telogen hair follicles and in the lower outer root sheath of anagen hair follicle. First expressed at 8.5 dpc in a few cells of the ectoplacental cone and, at 9.5 dpc, in a greater number of cells in the labyrinthine region of the forming placenta. In the embryo per se, expression starts at 9.5 dpc. At 10.5 dpc, detected in the facial area in the tissue overlaying the mandibular cleft and in the optic cup. In the central nervous system, expressed in the neuroepithelium at the roof of the mesencephalon and in the spinal cord. At 11.5 dpc, in the central nervous system, expressed in the neuroepithelium at the border between mes- and metencephalon and that lining the fourth ventricle and the retina, as well as in the spinal cord. Outside the nervous system, at 11.5 dpc, expressed in the mesenchyme over-laying the mandibular cleft, in the distal limb buds, especially the hind limb buds, as well as in the perichordal mesenchyme in the rostral region of the embryo. At 12.5 dpc, in the central nervous system, highly expressed in the rhombencephalic isthmus. In the facial area, expressed in the mesenchyme surrounding the olfactory epithelium and the forming vibrissae. Expression in the hind and front limb buds increases and spreads to more proximal directions, but is restricted to the area were the digits develop. At 13.5 dpc, the expression in the brain becomes restricted to the border between mes- and diencephalon. Also detected in the pituitary. Strongly expressed in the mesenchyme adjacent to the mandibular cleft, as well as in the most lateral aspects of the tongue and the teeth anlagen. Weak expression in the body wall and mesenchyme surrounding internal organs. At 14.5 dpc, becomes hardly detectable in the nervous system. In the body, expressed in the perichondrium, but levels decrease with ongoing age (PubMed:9920770). In the limbs, at 14.5 dpc, expressed in the mesenchyme, but not in the overlying ectoderm of the limb bud. In developing lungs, at 14.5 dpc, expressed at low levels in both the epithelium and mesenchyme lineages (PubMed:29769720). Mice exhibit malformation of the tongue and of lower jam causing newborns to swallow air leading to 100% neonatal lethality. Conditional knockout of both Lgr4 and Lgr5 in the gut results in Wnt signaling inhibition and results in the rapid demise of intestinal crypts (PubMed:21727895). Simultaneous knockdown of LGR4, LGR5 and LGR6 results in developmental phenotypes, such as cleft palate and ankyloglossia, but not in tetra-amelia with lung agenesis (PubMed:29769720). LGR5 is used as a marker of adult tissue stem cells in the intestine, stomach, hair follicle, and mammary epithelium. Belongs to the G-protein coupled receptor 1 family. hair follicle development transmembrane signaling receptor activity Golgi apparatus plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway activation of adenylate cyclase activity G-protein coupled peptide receptor activity hormone-mediated signaling pathway oocyte differentiation membrane integral component of membrane protein-hormone receptor activity trans-Golgi network membrane regulation of cell proliferation inner ear development positive regulation of canonical Wnt signaling pathway epithelial cell proliferation involved in renal tubule morphogenesis G-protein coupled receptor activity uc007hbi.1 uc007hbi.2 uc007hbi.3 
ENSMUST00000020362.3 Kcnmb1 ENSMUST00000020362.3 potassium large conductance calcium-activated channel, subfamily M, beta member 1 (from RefSeq NM_031169.4) ENSMUST00000020362.1 ENSMUST00000020362.2 Kcnmb1 NM_031169 Q5SQK1 Q5SQK1_MOUSE uc007iks.1 uc007iks.2 uc007iks.3 uc007iks.4 Regulatory subunit of the calcium activated potassium KCNMA1 (maxiK) channel. Modulates the calcium sensitivity and gating kinetics of KCNMA1, thereby contributing to KCNMA1 channel diversity. Increases the apparent Ca(2+)/voltage sensitivity of the KCNMA1 channel. It also modifies KCNMA1 channel kinetics and alters its pharmacological properties. It slows down the activation and the deactivation kinetics of the channel. Acts as a negative regulator of smooth muscle contraction by enhancing the calcium sensitivity to KCNMA1. Its presence is also a requirement for internal binding of the KCNMA1 channel opener dehydrosoyasaponin I (DHS-1) triterpene glycoside and for external binding of the agonist hormone 17-beta-estradiol (E2). Increases the binding activity of charybdotoxin (CTX) toxin to KCNMA1 peptide blocker by increasing the CTX association rate and decreasing the dissociation rate. Interacts with KCNMA1 tetramer. There are probably 4 molecules of KCMNB per KCNMA1 tetramer. Interacts with KCNMA1 tetramer. There are probably 4 molecules of KCMNB1 per KCNMA1 tetramer. Membrane ulti-pass membrane protein N-glycosylated. Belongs to the KCNMB (TC 8.A.14.1) family. KCNMB1 subfamily. potassium ion transport aging calcium-activated potassium channel activity potassium channel regulator activity membrane integral component of membrane response to calcium ion cellular response to ethanol cellular response to hypoxia potassium ion transmembrane transport positive regulation of potassium ion transmembrane transport cellular response to bile acid uc007iks.1 uc007iks.2 uc007iks.3 uc007iks.4 
ENSMUST00000020365.15 Pwwp3a ENSMUST00000020365.15 PWWP domain containing 3A, DNA repair factor (from RefSeq NM_023431.6) ENSMUST00000020365.1 ENSMUST00000020365.10 ENSMUST00000020365.11 ENSMUST00000020365.12 ENSMUST00000020365.13 ENSMUST00000020365.14 ENSMUST00000020365.2 ENSMUST00000020365.3 ENSMUST00000020365.4 ENSMUST00000020365.5 ENSMUST00000020365.6 ENSMUST00000020365.7 ENSMUST00000020365.8 ENSMUST00000020365.9 Mum1 NM_023431 PWP3A_MOUSE Q3TCZ4 Q6DID5 Q6NST9 Q8C5E3 Q8R1V6 Q9R1R7 uc007gch.1 uc007gch.2 uc007gch.3 Involved in the DNA damage response pathway by contributing to the maintenance of chromatin architecture. Recruited to the vicinity of DNA breaks by TP53BP1 and plays an accessory role to facilitate damage-induced chromatin changes and promoting chromatin relaxation. Required for efficient DNA repair and cell survival following DNA damage (By similarity). Interacts with TP53BP1 (via BRCT domain); the interaction is not dependent on its phosphorylation status. Binds nucleosomes. Interacts with trimethylated 'Lys-36' of histone H3 (H3K36me3) (in vitro) (By similarity). Nucleus Note=Recruited to DNA damage sites via its interaction with the BRCT domain of TP53BP1. The PWWP domain mediates the interaction with nucleosomes. Belongs to the PWWP3A family. Sequence=AAH23031.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAA82658.1; Type=Frameshift; Evidence=; Sequence=BAC37397.1; Type=Miscellaneous discrepancy; Note=Intron retention. This sequence is incomplete at the 5'-end.; Evidence=; nucleus cytosol DNA repair chromatin organization cellular response to DNA damage stimulus nucleosome binding uc007gch.1 uc007gch.2 uc007gch.3 
ENSMUST00000020366.8 Gabrp ENSMUST00000020366.8 gamma-aminobutyric acid type A receptor subunit pi (from RefSeq NM_146017.3) ENSMUST00000020366.1 ENSMUST00000020366.2 ENSMUST00000020366.3 ENSMUST00000020366.4 ENSMUST00000020366.5 ENSMUST00000020366.6 ENSMUST00000020366.7 GBRP_MOUSE NM_146017 Q3TUT6 Q8QZW7 uc007ikm.1 uc007ikm.2 GABA, the major inhibitory neurotransmitter in the vertebrate brain, mediates neuronal inhibition by binding to the GABA/benzodiazepine receptor and opening an integral chloride channel. In the uterus, the function of the receptor appears to be related to tissue contractility. The binding of this pI subunit with other GABA(A) receptor subunits alters the sensitivity of recombinant receptors to modulatory agents such as pregnanolone (By similarity). Generally pentameric. There are five types of GABA(A) receptor chains: alpha, beta, gamma, delta, and epsilon. A sixth class of subunit: Rho form homomeric GABA receptors that do not appear to coexist with GABA(A) receptor subunits but with GABA(C) receptor subunits. Subunit Pi can also bind this complex (By similarity). Postsynaptic cell membrane ; Multi- pass membrane protein Cell membrane ; Multi-pass membrane protein Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRP sub- subfamily. transmembrane signaling receptor activity GABA-A receptor activity ion channel activity extracellular ligand-gated ion channel activity chloride channel activity plasma membrane integral component of plasma membrane ion transport chloride transport signal transduction chemical synaptic transmission membrane integral component of membrane cell junction ion transmembrane transport chloride channel complex regulation of membrane potential neuron projection synapse postsynaptic membrane neurological system process chloride transmembrane transport uc007ikm.1 uc007ikm.2 
ENSMUST00000020372.6 Uqcr11 ENSMUST00000020372.6 ubiquinol-cytochrome c reductase, complex III subunit XI (from RefSeq NM_025650.2) ENSMUST00000020372.1 ENSMUST00000020372.2 ENSMUST00000020372.3 ENSMUST00000020372.4 ENSMUST00000020372.5 NM_025650 Q3TFX1 Q9CPX8 QCR10_MOUSE Uqcr uc007gde.1 uc007gde.2 uc007gde.3 Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to transfer electrons derived from NADH and succinate to molecular oxygen, creating an electrochemical gradient over the inner membrane that drives transmembrane transport and the ATP synthase. The cytochrome b-c1 complex catalyzes electron transfer from ubiquinol to cytochrome c, linking this redox reaction to translocation of protons across the mitochondrial inner membrane, with protons being carried across the membrane as hydrogens on the quinol. In the process called Q cycle, 2 protons are consumed from the matrix, 4 protons are released into the intermembrane space and 2 electrons are passed to cytochrome c. QCR10 has a role in CIII assembly and RIP1 stability. Component of the ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III, CIII), a multisubunit enzyme composed of 11 subunits. The complex is composed of 3 respiratory subunits cytochrome b, cytochrome c1 and Rieske protein UQCRFS1, 2 core protein subunits UQCRC1/QCR1 and UQCRC2/QCR2, and 6 low-molecular weight protein subunits UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and subunit 9, the cleavage product of Rieske protein UQCRFS1 (By similarity). The complex exists as an obligatory dimer and forms supercomplexes (SCs) in the inner mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I, CI) and cytochrome c oxidase (complex IV, CIV), resulting in different assemblies (supercomplex SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:19026783). Mitochondrion inner membrane ; Single-pass membrane protein Belongs to the UQCR11/QCR10 family. mitochondrion mitochondrial inner membrane ubiquinol-cytochrome-c reductase activity electron carrier activity membrane integral component of membrane electron transport chain oxidation-reduction process respiratory chain uc007gde.1 uc007gde.2 uc007gde.3 
ENSMUST00000020378.5 Best3 ENSMUST00000020378.5 bestrophin 3 (from RefSeq NM_001007583.1) BEST3_MOUSE ENSMUST00000020378.1 ENSMUST00000020378.2 ENSMUST00000020378.3 ENSMUST00000020378.4 NM_001007583 Q6H1V1 Vmd2l3 uc007hcp.1 uc007hcp.2 Forms calcium-sensitive chloride channels. Permeable to bicarbonate (By similarity). Cell membrane; Multi-pass membrane protein. Belongs to the anion channel-forming bestrophin (TC 1.A.46) family. Calcium-sensitive chloride channel subfamily. chloride channel activity plasma membrane ion transport chloride transport inorganic anion transport membrane integral component of membrane chloride channel complex negative regulation of ion transport chloride transmembrane transport uc007hcp.1 uc007hcp.2 
ENSMUST00000020381.5 Frs2 ENSMUST00000020381.5 fibroblast growth factor receptor substrate 2, transcript variant 1 (from RefSeq NM_177798.4) ENSMUST00000020381.1 ENSMUST00000020381.2 ENSMUST00000020381.3 ENSMUST00000020381.4 FRS2_MOUSE Frs2a NM_177798 Q8C180 uc007hct.1 uc007hct.2 uc007hct.3 Adapter protein that links activated FGR and NGF receptors to downstream signaling pathways. Plays an important role in the activation of MAP kinases and in the phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1. Modulates signaling via SHC1 by competing for a common binding site on NTRK1. Part of a complex containing FRS2, GRB2, GAB1, PIK3R1 and SOS1. Part of a complex containing GRB2 and CBL. Binds ALK, CKS2, FGFR1, RET, MAPK1/ERK2, MAPK3/ERK1 and SRC. The tyrosine-phosphorylated protein binds the SH2 domains of GRB2 and PTPN11. Interacts with NTRK1, NTRK2 and NTRK3 (phosphorylated upon ligand-binding) (By similarity). Identified in a complex containing FGFR4, NCAM1, CDH2, PLCG1, FRS2, SRC, SHC1, GAP43 and CTTN. Q8C180; Q60631: Grb2; NbExp=5; IntAct=EBI-6880000, EBI-1688; Membrane ; Lipid- anchor Ubiquitous. Expression is highest in brain, kidney, lung and testis. Phosphorylated on tyrosine residues upon stimulation by FGF2 or NGFB. Phosphorylated by ULK2 (in vitro). Phosphorylated on tyrosine residues by activated ALK and FGFR1. Phosphorylated on tyrosine residues upon activation of FGFR2 and FGFR3. Phosphorylated on threonine residues by MAP kinases; this inhibits tyrosine phosphorylation, and thereby down-regulates FRS2-mediated activation of MAP kinases. Ubiquitinated when tyrosine phosphorylated and in a complex with GRB2. The unphosphorylated form is not subject to ubiquitination. activation of MAPK activity gastrulation with mouth forming second organ induction lens development in camera-type eye ventricular septum development transmembrane receptor protein tyrosine kinase adaptor activity fibroblast growth factor receptor binding neurotrophin TRKA receptor binding protein binding cytoplasm cytosol plasma membrane cell-cell junction cell-cell adherens junction transmembrane receptor protein tyrosine kinase signaling pathway neuroblast proliferation fibroblast growth factor receptor signaling pathway anterior/posterior axis specification, embryo membrane forebrain development regulation of apoptotic process cellular response to fibroblast growth factor stimulus optic placode formation involved in camera-type eye formation regulation of epithelial cell proliferation prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis lens fiber cell development regulation of ERK1 and ERK2 cascade positive regulation of vascular smooth muscle cell proliferation negative regulation of cardiac muscle cell differentiation uc007hct.1 uc007hct.2 uc007hct.3 
ENSMUST00000020382.8 Yeats4 ENSMUST00000020382.8 YEATS domain containing 4 (from RefSeq NM_026570.4) ENSMUST00000020382.1 ENSMUST00000020382.2 ENSMUST00000020382.3 ENSMUST00000020382.4 ENSMUST00000020382.5 ENSMUST00000020382.6 ENSMUST00000020382.7 Gas41 NM_026570 Q9CR11 Q9CW86 YETS4_MOUSE Yeats4 uc007hcx.1 uc007hcx.2 uc007hcx.3 uc007hcx.4 Chromatin reader component of the NuA4 histone acetyltransferase (HAT) complex, a complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A (By similarity). Specifically recognizes and binds acylated histone H3, with a preference for histone H3 diacetylated at 'Lys-18' and 'Lys-27' (H3K18ac and H3K27ac) or histone H3 diacetylated at 'Lys-14' and 'Lys-27' (H3K14ac and H3K27ac) (By similarity). Also able to recognize and bind crotonylated histone H3 (By similarity). May also recognize and bind histone H3 succinylated at 'Lys-122' (H3K122succ); additional evidences are however required to confirm this result in vivo (By similarity). Plays a key role in histone variant H2AZ1/H2A.Z deposition into specific chromatin regions: recognizes and binds H3K14ac and H3K27ac on the promoters of actively transcribed genes and recruits NuA4-related complex to deposit H2AZ1/H2A.Z (By similarity). H2AZ1/H2A.Z deposition is required for maintenance of embryonic stem cell (PubMed:29900004). Component of numerous complexes with chromatin remodeling and histone acetyltransferase activity. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. The NuA4 complex interacts with MYC and the adenovirus E1A protein. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. Interacts with MLLT10/AF10. Also interacts with the SWI/SNF component SMARCB1/BAF47, TACC1 and TACC2, and the nuclear matrix protein NUMA1. Nucleus The YEATS domain specifically recognizes and binds acylated histones, with a preference for histone H3 diacetylated at 'Lys-14' and 'Lys-27' (H3K14ac and H3K27ac). protein binding nucleus nucleoplasm chromatin organization regulation of transcription, DNA-templated protein C-terminus binding nuclear membrane NuA4 histone acetyltransferase complex regulation of growth histone H4 acetylation histone H2A acetylation uc007hcx.1 uc007hcx.2 uc007hcx.3 uc007hcx.4 
ENSMUST00000020383.6 Atp8b3 ENSMUST00000020383.6 ATPase, class I, type 8B, member 3 (from RefSeq NM_026094.3) AT8B3_MOUSE Atp8b3 ENSMUST00000020383.1 ENSMUST00000020383.2 ENSMUST00000020383.3 ENSMUST00000020383.4 ENSMUST00000020383.5 NM_026094 Q6UQ17 uc007gdo.1 uc007gdo.2 uc007gdo.3 P4-ATPase flippase which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids from the outer to the inner leaflet of various membranes and ensures the maintenance of asymmetric distribution of phospholipids (PubMed:14975727, PubMed:19017724). Phospholipid translocation seems also to be implicated in vesicle formation and in uptake of lipid signaling molecules (PubMed:14975727). May be responsible for the maintenance of asymmetric distribution of phosphatidylserine (PS) in spermatozoa membranes (PubMed:14975727). Involved in acrosome reactions and binding of spermatozoa to zona pellucida (PubMed:19017724). Reaction=ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.; EC=7.6.2.1; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out) + ATP + H2O = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) + ADP + H(+) + phosphate; Xref=Rhea:RHEA:38567, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57262, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38568; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Cytoplasmic vesicle, secretory vesicle, acrosome membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein Expressed in testis, specifically in spermatids within seminiferous tubules (at protein level). Developmentally regulated in testis. Expression is first detected at 17 days after birth and is later up-regulated up to adulthood amd maintained thereafter. Disrupted normal fertilization by sperm; sensitivity to sperm concentration and the time required to fertilize an egg is increased; the number of spermatozoa bound to zona pellucida is decreased. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IV subfamily. nucleotide binding magnesium ion binding acrosomal vesicle acrosomal membrane ATP binding endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus plasma membrane lipid transport Golgi organization binding of sperm to zona pellucida phospholipid transport membrane integral component of membrane cytoplasmic vesicle phospholipid translocation metal ion binding uc007gdo.1 uc007gdo.2 uc007gdo.3 
ENSMUST00000020397.11 Snrpd3 ENSMUST00000020397.11 small nuclear ribonucleoprotein D3 (from RefSeq NM_026095.5) ENSMUST00000020397.1 ENSMUST00000020397.10 ENSMUST00000020397.2 ENSMUST00000020397.3 ENSMUST00000020397.4 ENSMUST00000020397.5 ENSMUST00000020397.6 ENSMUST00000020397.7 ENSMUST00000020397.8 ENSMUST00000020397.9 NM_026095 P43331 P62320 Q3TV81 SMD3_MOUSE uc007fqm.1 uc007fqm.2 uc007fqm.3 Plays a role in pre-mRNA splicing as a core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (By similarity). As part of the U7 snRNP it is involved in histone pre-mRNA 3'-end processing (PubMed:19470752). Core component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome. Most spliceosomal snRNPs contain a common set of Sm proteins, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP. Component of the U1 snRNP. The U1 snRNP is composed of the U1 snRNA and the 7 core Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG, and at least three U1 snRNP-specific proteins SNRNP70/U1-70K, SNRPA/U1-A and SNRPC/U1-C. Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF, SNRPG, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39, plus LSM2, LSM3, LSM4, LSM5, LSM6, LSM7 and LSM8 (By similarity). Component of the U7 snRNP complex, or U7 Sm protein core complex, that is composed of the U7 snRNA and at least LSM10, LSM11, SNRPB, SNRPD3, SNRPE, SNRPF and SNRPG; the complex does not contain SNRPD1 and SNRPD2 (PubMed:19470752). Component of the minor spliceosome, which splices U12-type introns. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG; catalyzes core snRNPs assembly. Forms a 6S pICln-Sm complex composed of CLNS1A/pICln, SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG; ring-like structure where CLNS1A/pICln mimics additional Sm proteins and which is unable to assemble into the core snRNP. Interacts (via C-terminus) with SMN1 (via Tudor domain); the interaction is direct (By similarity). Cytoplasm, cytosol Nucleus Note=SMN-mediated assembly into core snRNPs occurs in the cytosol before SMN-mediated transport to the nucleus to be included in spliceosomes. Methylated on arginine residues by PRMT5 and PRMT7; probable asymmetric dimethylation which is required for assembly and biogenesis of snRNPs. Belongs to the snRNP core protein family. commitment complex spliceosomal snRNP assembly mRNA splicing, via spliceosome RNA binding nucleus nucleoplasm spliceosomal complex U5 snRNP U7 snRNP U1 snRNP U2 snRNP U4 snRNP U12-type spliceosomal complex telomerase holoenzyme complex cytoplasm cytosol RNA processing mRNA processing protein methylation RNA splicing nuclear body enzyme binding methylosome pICln-Sm protein complex SMN-Sm protein complex U4/U6 x U5 tri-snRNP complex telomerase RNA binding U2-type precatalytic spliceosome U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome histone pre-mRNA DCP binding U7 snRNA binding U1 snRNP binding uc007fqm.1 uc007fqm.2 uc007fqm.3 
ENSMUST00000020399.6 Cpm ENSMUST00000020399.6 carboxypeptidase M (from RefSeq NM_027468.1) CBPM_MOUSE ENSMUST00000020399.1 ENSMUST00000020399.2 ENSMUST00000020399.3 ENSMUST00000020399.4 ENSMUST00000020399.5 NM_027468 Q497S5 Q80V42 Q9CYH8 uc007hdi.1 uc007hdi.2 uc007hdi.3 Specifically removes C-terminal basic residues (Arg or Lys) from peptides and proteins. It is believed to play important roles in the control of peptide hormone and growth factor activity at the cell surface, and in the membrane-localized degradation of extracellular proteins (By similarity). Reaction=Cleavage of C-terminal arginine or lysine residues from polypeptides.; EC=3.4.17.12; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Cell membrane ; Lipid-anchor, GPI- anchor Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q80V42-1; Sequence=Displayed; Name=2; IsoId=Q80V42-2; Sequence=VSP_014606, VSP_014607; Belongs to the peptidase M14 family. Sequence=AAH47389.1; Type=Erroneous initiation; Evidence=; carboxypeptidase activity metallocarboxypeptidase activity extracellular space plasma membrane proteolysis peptide metabolic process peptidase activity metallopeptidase activity zinc ion binding membrane protein processing hydrolase activity anchored component of membrane metal ion binding uc007hdi.1 uc007hdi.2 uc007hdi.3 
ENSMUST00000020403.7 Csrp2 ENSMUST00000020403.7 cysteine and glycine-rich protein 2 (from RefSeq NM_007792.4) CSRP2_MOUSE Dlp1 ENSMUST00000020403.1 ENSMUST00000020403.2 ENSMUST00000020403.3 ENSMUST00000020403.4 ENSMUST00000020403.5 ENSMUST00000020403.6 NM_007792 P97314 Q9CZG5 uc007gzs.1 uc007gzs.2 uc007gzs.3 uc007gzs.4 Drastically down-regulated in response to PDGF-BB or cell injury, that promote smooth muscle cell proliferation and dedifferentiation. Seems to play a role in the development of the embryonic vascular system (By similarity). Interacts with KAT14. The LIM domain 1 is necessary and sufficient for this interaction (By similarity). Interacts with GLRX3. Nucleus protein binding nucleus cytoplasm multicellular organism development actin cytoskeleton organization cell differentiation metal ion binding uc007gzs.1 uc007gzs.2 uc007gzs.3 uc007gzs.4 
ENSMUST00000020408.16 Mdm2 ENSMUST00000020408.16 transformed mouse 3T3 cell double minute 2, transcript variant 1 (from RefSeq NM_010786.4) ENSMUST00000020408.1 ENSMUST00000020408.10 ENSMUST00000020408.11 ENSMUST00000020408.12 ENSMUST00000020408.13 ENSMUST00000020408.14 ENSMUST00000020408.15 ENSMUST00000020408.2 ENSMUST00000020408.3 ENSMUST00000020408.4 ENSMUST00000020408.5 ENSMUST00000020408.6 ENSMUST00000020408.7 ENSMUST00000020408.8 ENSMUST00000020408.9 MDM2_MOUSE NM_010786 P23804 Q61040 Q64330 Q91XK7 uc007hdm.1 uc007hdm.2 uc007hdm.3 E3 ubiquitin-protein ligase that mediates ubiquitination of p53/TP53, leading to its degradation by the proteasome (PubMed:15195100, PubMed:21804542). Inhibits p53/TP53- and p73/TP73- mediated cell cycle arrest and apoptosis by binding its transcriptional activation domain (By similarity). Also acts as a ubiquitin ligase E3 toward itself, ARRB1 and ARBB2 (PubMed:11588219). Permits the nuclear export of p53/TP53 (By similarity). Promotes proteasome-dependent ubiquitin-independent degradation of retinoblastoma RB1 protein (By similarity). Inhibits DAXX-mediated apoptosis by inducing its ubiquitination and degradation (By similarity). Component of the TRIM28/KAP1-MDM2-p53/TP53 complex involved in stabilizing p53/TP53 (By similarity). Also a component of the TRIM28/KAP1-ERBB4-MDM2 complex which links growth factor and DNA damage response pathways (By similarity). Mediates ubiquitination and subsequent proteasome degradation of DYRK2 in nucleus (By similarity). Ubiquitinates IGF1R and SNAI1 and promotes them to proteasomal degradation (By similarity). Ubiquitinates DCX, leading to DCX degradation and reduction of the dendritic spine density of olfactory bulb granule cells (PubMed:25088421). Ubiquitinates DLG4, leading to proteasomal degradation of DLG4 which is required for AMPA receptor endocytosis (PubMed:14642282). Negatively regulates NDUFS1, leading to decreased mitochondrial respiration, marked oxidative stress, and commitment to the mitochondrial pathway of apoptosis (PubMed:30879903). Binds NDUFS1 leading to its cytosolic retention rather than mitochondrial localization resulting in decreased supercomplex assembly (interactions between complex I and complex III), decreased complex I activity, ROS production, and apoptosis (PubMed:30879903). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Interacts with p53/TP53, TP73/p73, RBL5 and RP11. Binds specifically to RNA. Can interact with RB1, E1A-associated protein EP300 and the E2F1 transcription factor. Forms a ternary complex with p53/TP53 and WWOX. Interacts with CDKN2AIP, RFWD3, USP7, PYHIN1 and RBBP6. Interacts with ARRB1 and ARRB2. Interacts with PSMA3. Found in a trimeric complex with MDM2, MDM4 and USP2. Interacts with USP2 (via N- terminus and C-terminus). Interacts with MDM4. Part of a complex with MDM2, DAXX, RASSF1 and USP7. Part of a complex with DAXX, MDM2 and USP7. Interacts directly with DAXX and USP7. Interacts (via C-terminus) with RASSF1 isoform A (via N-terminus); the interaction is independent of TP53. Interacts with APEX1; leading to its ubiquitination and degradation. Interacts with RYBP; this inhibits ubiquitination of TP53. Identified in a complex with RYBP and p53/TP53. Also a component of the TRIM28/KAP1-MDM2-p53/TP53 complex involved in regulating p53/TP53 stabilization and activity. Binds directly both p53/TP53 and TRIM28. Component of the TRIM28/KAP1-ERBB4-MDM2 complex involved in connecting growth factor responses with DNA damage. Interacts directly with both TRIM28 and ERBB4 in the complex. Interacts with DYRK2. Interacts with IGF1R. Interacts with TRIM13; the interaction ubiquitinates MDM2 leading to its proteasomal degradation. Interacts with SNAI1; this interaction promotes SNAI1 ubiquitination. Interacts with NOTCH1 (via intracellular domain). Interacts with FHIT. Interacts with RFFL and RNF34; the interaction stabilizes MDM2. Interacts with CDK5RAP3 and CDKN2A/ARF; form a ternary complex involved in regulation of p53/TP53. Interacts with MTA1 (By similarity). Interacts with AARB2 (PubMed:11588219). Interacts with MTBP (PubMed:10906133). Interacts with PML (PubMed:15195100). Interacts with TBRG1 (PubMed:17110379). Interacts with the 5S RNP which is composed of the 5S RNA, RPL5 and RPL11; the interaction is direct occurs in the nucleoplasm and negatively regulates MDM2-mediated TP53 ubiquitination and degradation (PubMed:15195100, PubMed:21804542). Interacts with ADGRB1; the interaction results in inhibition of MDM2-mediated ubiquitination and degradation of DLG4/PSD95, promoting DLG4 stability and regulating synaptic plasticity (PubMed:25751059). Interacts with RPL23A; this interaction may promote p53/TP53 polyubiquitination (By similarity). Interacts with NDUFS1 (PubMed:30879903). Interacts with MORN3; the interaction enhances the ubiquitination of p53/TP53 (By similarity). P23804; Q8BWG8: Arrb1; NbExp=4; IntAct=EBI-641788, EBI-641778; P23804; Q62108: Dlg4; NbExp=3; IntAct=EBI-641788, EBI-300895; P23804; O88904: Hipk1; NbExp=3; IntAct=EBI-641788, EBI-692945; P23804; Q5EBH1: Rassf5; NbExp=3; IntAct=EBI-641788, EBI-960530; P23804; Q9CXW4: Rpl11; NbExp=4; IntAct=EBI-641788, EBI-1548890; P23804; P62830: Rpl23; NbExp=2; IntAct=EBI-641788, EBI-2365752; P23804; P47962: Rpl5; NbExp=3; IntAct=EBI-641788, EBI-773940; P23804; Q8BSK8: Rps6kb1; NbExp=2; IntAct=EBI-641788, EBI-646423; P23804; P02340: Tp53; NbExp=9; IntAct=EBI-641788, EBI-474016; P23804; P62991: Ubc; NbExp=2; IntAct=EBI-641788, EBI-413074; P23804; P53350: PLK1; Xeno; NbExp=2; IntAct=EBI-641788, EBI-476768; P23804-1; O35618: Mdm4; NbExp=2; IntAct=EBI-3386476, EBI-2603376; P23804-1; P02340: Tp53; NbExp=2; IntAct=EBI-3386476, EBI-474016; P23804-2; O35618: Mdm4; NbExp=2; IntAct=EBI-3386480, EBI-2603376; Nucleus, nucleoplasm Cytoplasm Nucleus, nucleolus Nucleus Note=Colocalizes with RASSF1 isoform A in the nucleus (By similarity). Expressed predominantly in the nucleoplasm. Interaction with ARF(P14) results in the localization of both proteins to the nucleolus. The nucleolar localization signals in both ARF(P14) and MDM2 may be necessary to allow efficient nucleolar localization of both proteins. Event=Alternative splicing, Alternative initiation; Named isoforms=2; Name=Mdm2-p90; IsoId=P23804-1; Sequence=Displayed; Name=Mdm2-p76; IsoId=P23804-2; Sequence=VSP_003215; Ubiquitously expressed at low-level throughout embryo development and in adult tissues. MDM2-p90 is much more abundant than MDM2-p76 in testis, brain, heart, and kidney, but in the thymus, spleen, and intestine, the levels of the MDM2 proteins are roughly equivalent. By UV light (PubMed:10075719). Down-regulated by NPAS4 (PubMed:25088421). Region I is sufficient for binding p53 and inhibiting its G1 arrest and apoptosis functions. It also binds p73 and E2F1. Region II contains most of a central acidic region required for interaction with ribosomal protein L5 and a putative C4-type zinc finger. The RING finger domain which coordinates two molecules of zinc interacts specifically with RNA whether or not zinc is present and mediates the heterooligomerization with MDM4. It is also essential for its ubiquitin ligase E3 activity toward p53 and itself. Phosphorylation on Ser-163 by SGK1 activates ubiquitination of p53/TP53. Phosphorylated at multiple sites near the RING domain by ATM upon DNA damage; this prevents oligomerization and E3 ligase processivity and impedes constitutive p53/TP53 degradation (By similarity). Autoubiquitination leads to proteasomal degradation; resulting in p53/TP53 activation it may be regulated by SFN. Also ubiquitinated by TRIM13. Deubiquitinated by USP2 leads to its accumulation and increases deubiquitination and degradation of p53/TP53. Deubiquitinated by USP7 leading to its stabilization (By similarity). Loss of Dlg4 ubiquitination. [Isoform Mdm2-p76]: Does not bind to p53. Can be produced by alternative initiation at Met-50 of isoform Mdm2-p90, but is produced more efficiently by alternative splicing. Belongs to the MDM2/MDM4 family. negative regulation of transcription from RNA polymerase II promoter blood vessel development blood vessel remodeling regulation of heart rate p53 binding heart valve development atrioventricular valve morphogenesis endocardial cushion morphogenesis ventricular septum development atrial septum development ubiquitin-protein transferase activity protein binding nucleus nucleoplasm nucleolus cytoplasm cytosol plasma membrane ubiquitin-dependent protein catabolic process DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest traversing start control point of mitotic cell cycle heart development 5S rRNA binding zinc ion binding response to toxic substance response to iron ion regulation of gene expression positive regulation of gene expression negative regulation of gene expression negative regulation of protein processing negative regulation of neuron projection development protein ubiquitination nuclear body transferase activity ligase activity protein sumoylation peptidyl-lysine modification SUMO transferase activity enzyme binding protein domain specific binding ubiquitin protein ligase binding protein destabilization response to magnesium ion positive regulation of proteasomal ubiquitin-dependent protein catabolic process macromolecular complex receptor serine/threonine kinase binding protein localization to nucleus regulation of protein catabolic process response to cocaine response to drug identical protein binding peroxisome proliferator activated receptor binding ribonucleoprotein complex binding negative regulation of apoptotic process ubiquitin binding negative regulation of cysteine-type endopeptidase activity involved in apoptotic process response to morphine negative regulation of DNA damage response, signal transduction by p53 class mediator establishment of protein localization synapse response to ether positive regulation of cell cycle negative regulation of transcription, DNA-templated positive regulation of mitotic cell cycle response to antibiotic positive regulation of protein export from nucleus metal ion binding protein N-terminus binding response to steroid hormone proteolysis involved in cellular protein catabolic process protein autoubiquitination cardiac septum morphogenesis ubiquitin protein ligase activity NEDD8 ligase activity macromolecular complex assembly cellular response to hydrogen peroxide negative regulation of cell cycle arrest cellular response to antibiotic cellular response to vitamin B1 cellular response to organic substance cellular response to alkaloid cellular response to growth factor stimulus cellular response to peptide hormone stimulus cellular response to estrogen stimulus cellular response to organic cyclic compound cellular response to hypoxia cellular response to gamma radiation cellular response to UV-C cellular response to actinomycin D scaffold protein binding disordered domain specific binding negative regulation of signal transduction by p53 class mediator negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator response to formaldehyde positive regulation of vascular smooth muscle cell proliferation positive regulation of vascular associated smooth muscle cell migration amyloid fibril formation response to water-immersion restraint stress uc007hdm.1 uc007hdm.2 uc007hdm.3 
ENSMUST00000020413.4 Zpbp ENSMUST00000020413.4 zona pellucida binding protein, transcript variant 1 (from RefSeq NM_015785.2) ENSMUST00000020413.1 ENSMUST00000020413.2 ENSMUST00000020413.3 NM_015785 Q5NC84 Q5NC84_MOUSE Zpbp uc007iae.1 uc007iae.2 uc007iae.3 uc007iae.4 Cytoplasmic vesicle, secretory vesicle, acrosome Secreted Belongs to the zona pellucida-binding protein Sp38 family. extracellular region binding of sperm to zona pellucida uc007iae.1 uc007iae.2 uc007iae.3 uc007iae.4 
ENSMUST00000020420.9 Ap3d1 ENSMUST00000020420.9 adaptor-related protein complex 3, delta 1 subunit (from RefSeq NM_007460.2) AP3D1_MOUSE Ap3d ENSMUST00000020420.1 ENSMUST00000020420.2 ENSMUST00000020420.3 ENSMUST00000020420.4 ENSMUST00000020420.5 ENSMUST00000020420.6 ENSMUST00000020420.7 ENSMUST00000020420.8 NM_007460 O54774 uc007gek.1 uc007gek.2 uc007gek.3 Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes (By similarity). Involved in process of CD8+ T-cell and NK cell degranulation (By similarity). In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals (PubMed:21998198). Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2) (By similarity). AP- 3 associates with the BLOC-1 complex. Interacts with SLC30A2. Interacts with CLN3 (via dileucine motif); this interaction facilitates lysosomal targeting (By similarity). Cytoplasm Golgi apparatus membrane ; Peripheral membrane protein ; Cytoplasmic side Belongs to the adaptor complexes large subunit family. Golgi membrane cytoplasm Golgi apparatus trans-Golgi network protein targeting to vacuole zinc II ion transport intracellular protein transport Golgi to vacuole transport anterograde axonal transport endosome membrane protein transport membrane synaptic vesicle budding from endosome vesicle-mediated transport antigen processing and presentation membrane coat AP-3 adaptor complex axon protein localization to organelle endosome to melanosome transport terminal bouton antigen processing and presentation, exogenous lipid antigen via MHC class Ib anterograde synaptic vesicle transport synaptic vesicle membrane organization positive regulation of NK T cell differentiation regulation of sequestering of zinc ion protein localization to membrane presynapse postsynapse presynaptic endosome neurotransmitter receptor transport, postsynaptic endosome to lysosome glutamatergic synapse vesicle-mediated transport in synapse axon cytoplasm uc007gek.1 uc007gek.2 uc007gek.3 
ENSMUST00000020434.4 Glipr1l2 ENSMUST00000020434.4 GLI pathogenesis-related 1 like 2, transcript variant 1 (from RefSeq NM_026223.2) ENSMUST00000020434.1 ENSMUST00000020434.2 ENSMUST00000020434.3 GRPL2_MOUSE NM_026223 Q148R1 Q3TTM5 Q9CQ35 uc007hal.1 uc007hal.2 Membrane ; Single-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CQ35-1; Sequence=Displayed; Name=2; IsoId=Q9CQ35-2; Sequence=VSP_032247, VSP_032248; Belongs to the CRISP family. Sequence=BAE36300.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; molecular_function extracellular space biological_process membrane integral component of membrane uc007hal.1 uc007hal.2 
ENSMUST00000020439.11 Wif1 ENSMUST00000020439.11 Wnt inhibitory factor 1 (from RefSeq NM_011915.2) ENSMUST00000020439.1 ENSMUST00000020439.10 ENSMUST00000020439.2 ENSMUST00000020439.3 ENSMUST00000020439.4 ENSMUST00000020439.5 ENSMUST00000020439.6 ENSMUST00000020439.7 ENSMUST00000020439.8 ENSMUST00000020439.9 NM_011915 Q9WUA1 WIF1_MOUSE uc007hfj.1 uc007hfj.2 uc007hfj.3 uc007hfj.4 Binds to WNT proteins and inhibits their activities. May be involved in mesoderm segmentation. Interacts with MYOC. Secreted. Expression highest in heart and lung. Lower in brain and eye. receptor binding extracellular region multicellular organism development cell surface Wnt signaling pathway Wnt-protein binding negative regulation of Wnt signaling pathway positive regulation of fat cell differentiation anatomical structure development uc007hfj.1 uc007hfj.2 uc007hfj.3 uc007hfj.4 
ENSMUST00000020440.7 Timm13 ENSMUST00000020440.7 translocase of inner mitochondrial membrane 13 (from RefSeq NM_013895.4) ENSMUST00000020440.1 ENSMUST00000020440.2 ENSMUST00000020440.3 ENSMUST00000020440.4 ENSMUST00000020440.5 ENSMUST00000020440.6 NM_013895 P62075 Q91VM6 Q9DC89 Q9UHL8 Q9WTL1 TIM13_MOUSE Tim13a Timm13a uc007gfi.1 uc007gfi.2 uc007gfi.3 Mitochondrial intermembrane chaperone that participates in the import and insertion of some multi-pass transmembrane proteins into the mitochondrial inner membrane. Also required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space. The TIMM8- TIMM13 complex mediates the import of proteins such as TIMM23, SLC25A12/ARALAR1 and SLC25A13/ARALAR2, while the predominant TIMM9- TIMM10 70 kDa complex mediates the import of much more proteins (By similarity). Heterohexamer; composed of 3 copies of TIMM8 (TIMM8A or TIMM8B) and 3 copies of TIMM13, named soluble 70 kDa complex. Associates with the TIM22 complex, whose core is composed of TIMM22 (By similarity). Mitochondrion inner membrane ; Peripheral membrane protein ; Intermembrane side Present at high level in liver and brain, and at lower level in muscle and heart. In CNS sections, it is predominantly present in the soma and the dendritic portion of the Purkinje cells of the cerebellum, but not in the glial cells. Scattered expression also is also detected in the brain stem, olfactory bulb, substantia nigra, hippocampus and striatum (at protein level). The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM13 from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (By similarity). Belongs to the small Tim family. fibrillar center mitochondrion mitochondrial inner membrane mitochondrial intermembrane space protein transport membrane mitochondrial intermembrane space protein transporter complex protein import into mitochondrial inner membrane metal ion binding chaperone-mediated protein transport uc007gfi.1 uc007gfi.2 uc007gfi.3 
ENSMUST00000020441.13 Vps13d ENSMUST00000020441.13 Belongs to the VPS13 family. (from UniProt B1ART1) AK172952 B1ART1 B1ART1_MOUSE ENSMUST00000020441.1 ENSMUST00000020441.10 ENSMUST00000020441.11 ENSMUST00000020441.12 ENSMUST00000020441.2 ENSMUST00000020441.3 ENSMUST00000020441.4 ENSMUST00000020441.5 ENSMUST00000020441.6 ENSMUST00000020441.7 ENSMUST00000020441.8 ENSMUST00000020441.9 Vps13d uc290roi.1 uc290roi.2 Belongs to the VPS13 family. molecular_function cell protein targeting to vacuole mitochondrion organization extrinsic component of membrane protein retention in Golgi apparatus positive regulation of macromitophagy uc290roi.1 uc290roi.2 
ENSMUST00000020444.16 Llph ENSMUST00000020444.16 LLP homolog, long-term synaptic facilitation (Aplysia), transcript variant 1 (from RefSeq NM_025431.3) ENSMUST00000020444.1 ENSMUST00000020444.10 ENSMUST00000020444.11 ENSMUST00000020444.12 ENSMUST00000020444.13 ENSMUST00000020444.14 ENSMUST00000020444.15 ENSMUST00000020444.2 ENSMUST00000020444.3 ENSMUST00000020444.4 ENSMUST00000020444.5 ENSMUST00000020444.6 ENSMUST00000020444.7 ENSMUST00000020444.8 ENSMUST00000020444.9 LLPH_MOUSE NM_025431 Q3KQP9 Q9D945 uc007hfa.1 uc007hfa.2 uc007hfa.3 In hippocampal neurons, regulates dendritic and spine growth and synaptic transmission. Interacts with CTCF, MYO1C and with the transcriptional machinery, including RNA polymerase II and TBP. Nucleus, nucleolus Chromosome Note=Cell-permeable protein. 22 hours after injection in the hippocampal area CA1, internalized by most cells at the injection site (PubMed:26961175). Localizes at the chromosome periphery during mitosis (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9D945-1; Sequence=Displayed; Name=2; IsoId=Q9D945-2; Sequence=VSP_022719; Widely expressed, with high levels in testis and spleen and low levels in heart. In the brain, expressed in the cortex and hippocampus, and at very low levels in the cerebellum. Strongly expressed in the brain in early developmental stages. Expression gradually decreases during development, from very high levels at 13 dpc down to hardly detectable in the adult at day 20 postnatal and later on (at protein level). In the hippocampal neurons, down-regulated by sustained activity induced by increased extracellular potassium concentration for a prolonged time (2 - 5 hours) (at protein level). Belongs to the learning-associated protein family. basal RNA polymerase II transcription machinery binding protein binding nucleus chromosome nucleolus positive regulation of dendritic spine development dendrite extension uc007hfa.1 uc007hfa.2 uc007hfa.3 
ENSMUST00000020446.11 Tmbim4 ENSMUST00000020446.11 transmembrane BAX inhibitor motif containing 4 (from RefSeq NM_026617.3) ENSMUST00000020446.1 ENSMUST00000020446.10 ENSMUST00000020446.2 ENSMUST00000020446.3 ENSMUST00000020446.4 ENSMUST00000020446.5 ENSMUST00000020446.6 ENSMUST00000020446.7 ENSMUST00000020446.8 ENSMUST00000020446.9 LFG4_MOUSE Lfg4 NM_026617 Q9DA39 uc007hey.1 uc007hey.2 uc007hey.3 Anti-apoptotic protein which can inhibit apoptosis induced by intrinsic and extrinsic apoptotic stimuli. Can modulate both capacitative Ca2+ entry and inositol 1,4,5-trisphosphate (IP3)-mediated Ca2+ release (By similarity). Interacts with ITPR3. Golgi apparatus membrane; Multi-pass membrane protein. Belongs to the BI1 family. LFG subfamily. Golgi membrane molecular_function Golgi apparatus Golgi stack apoptotic process membrane integral component of membrane negative regulation of apoptotic process regulation of calcium-mediated signaling uc007hey.1 uc007hey.2 uc007hey.3 
ENSMUST00000020448.11 Irak3 ENSMUST00000020448.11 interleukin-1 receptor-associated kinase 3, transcript variant 3 (from RefSeq NR_152856.1) ENSMUST00000020448.1 ENSMUST00000020448.10 ENSMUST00000020448.2 ENSMUST00000020448.3 ENSMUST00000020448.4 ENSMUST00000020448.5 ENSMUST00000020448.6 ENSMUST00000020448.7 ENSMUST00000020448.8 ENSMUST00000020448.9 IRAK3_MOUSE Irak3 NR_152856 Q8C7U8 Q8CE40 Q8K1S8 Q8K4B2 uc007het.1 uc007het.2 uc007het.3 Putative inactive protein kinase which regulates signaling downstream of immune receptors including IL1R and Toll-like receptors (PubMed:12150927, PubMed:12054681, PubMed:29686383). Inhibits dissociation of IRAK1 and IRAK4 from the Toll-like receptor signaling complex by either inhibiting the phosphorylation of IRAK1 and IRAK4 or stabilizing the receptor complex (PubMed:12150927, PubMed:12054681). Upon IL33-induced lung inflammation, positively regulates expression of IL6, CSF3, CXCL2 and CCL5 mRNAs in dendritic cells (PubMed:29686383). Monomer (By similarity). Homodimer (By similarity). May interact with IRAK4 (when phosphorylated) (By similarity). Interacts (when phosphorylated at Thr-110) with PIN1 (via WW domain) in response to IL33-mediated (but not TLR4 ligand LPS) dendritic cell stimulation (PubMed:29686383). Q8K4B2; Q8R4K2: Irak4; NbExp=7; IntAct=EBI-646179, EBI-3842721; Q8K4B2; P70196: Traf6; NbExp=3; IntAct=EBI-646179, EBI-448028; Q8K4B2; Q9NWZ3: IRAK4; Xeno; NbExp=4; IntAct=EBI-646179, EBI-448378; Cytoplasm Nucleus Note=In dendritic cells, translocates into the nucleus upon IL33 stimulation. Expressed in inflamed lung macrophages (at protein level) (PubMed:29686383). Expressed in dendritic cells (at protein level) (PubMed:29686383). Highly expressed in liver and thymus and at lower levels in heart, brain, spleen and kidney (PubMed:12054681). The nucleotide binding domain binds ATP with low affinity. In response to intranasal administration of IL33, lung inflammation is reduced compared to wild-type and is associated with low infiltration by inflammatory cells, especially granulocytes, a severe reduction in Th2-type cytokine secretion, including Il4, Il5 and Il13 in bronchial alveolar fluids, and reduced up-regulation of Il6, Csf3, Cxcl2 and Ccl5 mRNAs. Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. Pelle subfamily. Asn-306 is present instead of the conserved Asp which is expected to be an active site residue. Low level autophosphorylation activity has been reported in PubMed:12054681, while other authors describe this as an inactive kinase. nucleotide binding magnesium ion binding negative regulation of cytokine-mediated signaling pathway MyD88-dependent toll-like receptor signaling pathway protein kinase activity protein serine/threonine kinase activity protein binding ATP binding nucleus cytoplasm protein phosphorylation apoptotic process signal transduction response to virus positive regulation of macrophage tolerance induction negative regulation of macrophage cytokine production kinase activity phosphorylation transferase activity cytokine-mediated signaling pathway negative regulation of NF-kappaB transcription factor activity response to peptidoglycan response to lipopolysaccharide negative regulation of interleukin-12 production negative regulation of interleukin-6 production negative regulation of tumor necrosis factor production negative regulation of toll-like receptor signaling pathway intracellular signal transduction negative regulation of protein catabolic process protein homodimerization activity regulation of apoptotic process negative regulation of protein complex disassembly regulation of protein complex disassembly response to exogenous dsRNA negative regulation of MAP kinase activity negative regulation of innate immune response protein autophosphorylation protein heterodimerization activity positive regulation of NF-kappaB transcription factor activity interleukin-1-mediated signaling pathway response to interleukin-1 uc007het.1 uc007het.2 uc007het.3 
ENSMUST00000020449.12 Helb ENSMUST00000020449.12 helicase (DNA) B (from RefSeq NM_080446.2) ENSMUST00000020449.1 ENSMUST00000020449.10 ENSMUST00000020449.11 ENSMUST00000020449.2 ENSMUST00000020449.3 ENSMUST00000020449.4 ENSMUST00000020449.5 ENSMUST00000020449.6 ENSMUST00000020449.7 ENSMUST00000020449.8 ENSMUST00000020449.9 G5E835 HELB_MOUSE Helb NM_080446 Q6KAT5 Q6NVF4 Q8C930 Q9EQT8 uc007hes.1 uc007hes.2 uc007hes.3 uc007hes.4 5'-3' DNA helicase involved in DNA damage response by acting as an inhibitor of DNA end resection (PubMed:26774285). Recruitment to single-stranded DNA (ssDNA) following DNA damage leads to inhibit the nucleases catalyzing resection, such as EXO1, BLM and DNA2, possibly via the 5'-3' ssDNA translocase activity of HELB (PubMed:26774285). As cells approach S phase, DNA end resection is promoted by the nuclear export of HELB following phosphorylation (PubMed:26774285). Acts independently of TP53BP1 (PubMed:26774285). Unwinds duplex DNA with 5'- 3' polarity. Has single-strand DNA-dependent ATPase and DNA helicase activities. Prefers ATP and dATP as substrates. During S phase, may facilitate cellular recovery from replication stress (PubMed:11557815, PubMed:7596831, PubMed:7794903). Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12; Evidence=; Binds to RPA1; this interaction promotes HELB recruitment to chromatin following DNA damage. Interacts with at least two subunits of the DNA polymerase alpha complex. Interacts with CDC45. Interacts with TOPB1. Nucleus Cytoplasm Chromosome Note=Predominantly nuclear. Phosphorylation at Ser-942 by CDK2 during the G1/S transition results in its nuclear export into the cytoplasm as cells approach and progress through S phase. Following DNA damage, recruited to sites of double- strand breaks by the RPA complex. Phosphorylated at Ser-942 by CDK2 during the G1/S transition, resulting in its nuclear export into the cytoplasm. As S phase progresses, its exclusion from the nucleus promotes the activation of long-range resection. Belongs to the RecD family. HELB subfamily. Sequence=BAD21372.1; Type=Erroneous initiation; Evidence=; nucleotide binding DNA helicase activity RNA binding helicase activity ATP binding nucleus DNA replication factor A complex chromosome cytoplasm DNA replication DNA-dependent DNA replication DNA replication, synthesis of RNA primer cellular response to DNA damage stimulus hydrolase activity single-stranded DNA-dependent ATP-dependent DNA helicase activity DNA duplex unwinding site of double-strand break 5'-3' DNA helicase activity macromolecular complex binding regulation of DNA double-strand break processing negative regulation of double-strand break repair via homologous recombination uc007hes.1 uc007hes.2 uc007hes.3 uc007hes.4 
ENSMUST00000020450.4 Slc5a4a ENSMUST00000020450.4 solute carrier family 5, member 4a (from RefSeq NM_133184.2) ENSMUST00000020450.1 ENSMUST00000020450.2 ENSMUST00000020450.3 G5E836 NM_133184 Q8R479 Q9ET37 S5A4A_MOUSE Sglt3a Slc5a4a uc007fty.1 uc007fty.2 Does not function as sodium/D-glucose symporter (PubMed:22301059). Generates D-glucose-induced depolarization in a pH- dependent manner, with activity in acidic conditions (pH 5) but not neutral conditions (PubMed:22301059). Not inhibited by phlorizin. Cell membrane ; Multi-pass membrane protein Expressed in small intestine (PubMed:22301059). Expressed in kidney (PubMed:12969150). Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family. glucose:sodium symporter activity plasma membrane sodium ion transport hydrogen ion transmembrane transporter activity membrane integral component of membrane transmembrane transporter activity transmembrane transport hydrogen ion transmembrane transport glucose transmembrane transport uc007fty.1 uc007fty.2 
ENSMUST00000020456.5 Tektip1 ENSMUST00000020456.5 tektin bundle interacting protein 1 (from RefSeq NM_001014836.3) A6H6Q4 B9EI87 ENSMUST00000020456.1 ENSMUST00000020456.2 ENSMUST00000020456.3 ENSMUST00000020456.4 NM_001014836 Q9D5N6 TKTI1_MOUSE Tektip1 uc007ghq.1 uc007ghq.2 uc007ghq.3 uc007ghq.4 Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating. Located at the center of the tektin bundle where may function to recruit tektins or stabilize the bundle. Cytoplasm, cytoskeleton, cilium axoneme molecular_function cellular_component biological_process uc007ghq.1 uc007ghq.2 uc007ghq.3 uc007ghq.4 
ENSMUST00000020461.15 Nfic ENSMUST00000020461.15 nuclear factor I/C, transcript variant 1 (from RefSeq NM_008688.3) ENSMUST00000020461.1 ENSMUST00000020461.10 ENSMUST00000020461.11 ENSMUST00000020461.12 ENSMUST00000020461.13 ENSMUST00000020461.14 ENSMUST00000020461.2 ENSMUST00000020461.3 ENSMUST00000020461.4 ENSMUST00000020461.5 ENSMUST00000020461.6 ENSMUST00000020461.7 ENSMUST00000020461.8 ENSMUST00000020461.9 NFIC_MOUSE NM_008688 O09072 P70255 P70256 Q3U2I9 Q99MA3 Q99MA4 Q99MA5 Q99MA6 Q99MA7 Q99MA8 Q9R1G3 uc007ghy.1 uc007ghy.2 uc007ghy.3 Recognizes and binds the palindromic sequence 5'- TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication. Binds DNA as a homodimer. Nucleus. Event=Alternative splicing; Named isoforms=7; Name=1; Synonyms=C1A, C2; IsoId=P70255-1; Sequence=Displayed; Name=2; Synonyms=C1B; IsoId=P70255-2; Sequence=VSP_003557; Name=3; Synonyms=C5; IsoId=P70255-3; Sequence=VSP_007559; Name=4; Synonyms=C8; IsoId=P70255-4; Sequence=VSP_007557; Name=5; Synonyms=C9; IsoId=P70255-5; Sequence=VSP_007558; Name=6; Synonyms=C10; IsoId=P70255-6; Sequence=VSP_007556; Name=7; Synonyms=C11; IsoId=P70255-7; Sequence=VSP_007556, VSP_007559; Highest levels in skeletal muscle. Lower levels in heart, liver, kidney, lung and brain. Very low levels in testis and spleen. The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. Belongs to the CTF/NF-I family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding fibrillar center DNA binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding nucleus DNA replication regulation of transcription, DNA-templated odontogenesis of dentin-containing tooth negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter uc007ghy.1 uc007ghy.2 uc007ghy.3 
ENSMUST00000020463.14 Ncln ENSMUST00000020463.14 nicalin (from RefSeq NM_134009.3) ENSMUST00000020463.1 ENSMUST00000020463.10 ENSMUST00000020463.11 ENSMUST00000020463.12 ENSMUST00000020463.13 ENSMUST00000020463.2 ENSMUST00000020463.3 ENSMUST00000020463.4 ENSMUST00000020463.5 ENSMUST00000020463.6 ENSMUST00000020463.7 ENSMUST00000020463.8 ENSMUST00000020463.9 NCLN_MOUSE NM_134009 Q8C7Y4 Q8VCM8 Q9CX81 uc007gig.1 uc007gig.2 uc007gig.3 Component of the multi-pass translocon (MPT) complex that mediates insertion of multi-pass membrane proteins into the lipid bilayer of membranes. The MPT complex takes over after the SEC61 complex: following membrane insertion of the first few transmembrane segments of proteins by the SEC61 complex, the MPT complex occludes the lateral gate of the SEC61 complex to promote insertion of subsequent transmembrane regions (By similarity). May antagonize Nodal signaling and subsequent organization of axial structures during mesodermal patterning, via its interaction with NOMO (By similarity). Component of the back of Sec61 (BOS) complex, composed of NCLN/Nicalin, NOMO1 and TMEM147. The BOS complex is part of the multi- pass translocon (MPT) complex, composed of three subcomplexes, the GEL complex (composed of RAB5IF/OPTI and TMCO1), the BOS complex (composed of NCLN/Nicalin, NOMO1 and TMEM147) and the PAT complex (composed of WDR83OS/Asterix and CCDC47). The MPT complex associates with the SEC61 complex. Endoplasmic reticulum membrane ; Single-pass membrane protein Belongs to the nicastrin family. Sequence=BAB31708.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; molecular_function endoplasmic reticulum endoplasmic reticulum membrane regulation of signal transduction membrane integral component of membrane macromolecular complex regulation of protein complex assembly protein stabilization regulation of protein complex stability uc007gig.1 uc007gig.2 uc007gig.3 
ENSMUST00000020478.14 Hcfc2 ENSMUST00000020478.14 host cell factor C2, transcript variant 2 (from RefSeq NM_001368720.1) ENSMUST00000020478.1 ENSMUST00000020478.10 ENSMUST00000020478.11 ENSMUST00000020478.12 ENSMUST00000020478.13 ENSMUST00000020478.2 ENSMUST00000020478.3 ENSMUST00000020478.4 ENSMUST00000020478.5 ENSMUST00000020478.6 ENSMUST00000020478.7 ENSMUST00000020478.8 ENSMUST00000020478.9 G5E837 HCFC2_MOUSE NM_001368720 Q9D968 uc007gjt.1 uc007gjt.2 uc007gjt.3 Binds KMT2A/MLL1. Component of the MLL1/MLL complex, at least composed of KMT2A/MLL1, ASH2L, RBBP5, DPY30, WDR5, MEN1, HCFC1 and HCFC2 (By similarity). Interacts with TASOR (PubMed:31112734). Cytoplasm Nucleus Expressed in the spermatogonia, spermatocytes and ovary. Sequence=BAB24953.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; negative regulation of transcription from RNA polymerase II promoter molecular_function nucleus nucleoplasm cytoplasm cytosol plasma membrane MLL1 complex uc007gjt.1 uc007gjt.2 uc007gjt.3 
ENSMUST00000020484.9 Txnrd1 ENSMUST00000020484.9 thioredoxin reductase 1, transcript variant 2 (from RefSeq NM_015762.2) ENSMUST00000020484.1 ENSMUST00000020484.2 ENSMUST00000020484.3 ENSMUST00000020484.4 ENSMUST00000020484.5 ENSMUST00000020484.6 ENSMUST00000020484.7 ENSMUST00000020484.8 NM_015762 Q3UEB7 Q3UK84 Q8CI31 Q99P49 Q9CSV5 Q9JMH6 TRXR1_MOUSE Trxr1 Txnrd1 uc007gka.1 uc007gka.2 uc007gka.3 The protein encoded by this gene belongs to the pyridine nucleotide-disulfide oxidoreductase family, and is a member of the thioredoxin (Trx) system. Three thioredoxin reductase (TrxR) isozymes are found in mammals. TrxRs are selenocysteine-containing flavoenzymes, which reduce thioredoxins, as well as other substrates, and play a key role in redox homoeostasis. This gene encodes an ubiquitously expressed, cytosolic form of TrxR, which functions as a homodimer containing FAD, and selenocysteine (Sec) at the active site. Sec is encoded by UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Alternative splicing, primarily at the 5' end, results in transcript variants encoding same or different isoforms. [provided by RefSeq, May 2017]. Reduces disulfideprotein thioredoxin (Trx) to its dithiol- containing form. Homodimeric flavoprotein involved in the regulation of cellular redox reactions, growth and differentiation. Contains a selenocysteine residue at the C-terminal active site that is essential for catalysis. Also has reductase activity on hydrogen peroxide (H2O2). Reaction=[thioredoxin]-dithiol + NADP(+) = [thioredoxin]-disulfide + H(+) + NADPH; Xref=Rhea:RHEA:20345, Rhea:RHEA-COMP:10698, Rhea:RHEA- COMP:10700, ChEBI:CHEBI:15378, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.8.1.9; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:20347; Evidence=; Reaction=H(+) + H2O2 + NADPH = 2 H2O + NADP(+); Xref=Rhea:RHEA:15173, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16240, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.11.1.2; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:15174; Evidence=; Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Note=Binds 1 FAD per subunit. ; Homodimer. Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9JMH6-1; Sequence=Displayed; Name=2; IsoId=Q9JMH6-2; Sequence=VSP_031566; ISGylated. The thioredoxin reductase active site is a redox-active disulfide bond. The selenocysteine residue is also essential for catalytic activity. Belongs to the class-I pyridine nucleotide-disulfide oxidoreductase family. Sequence=AAH37643.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; Sequence=BAE26918.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; Sequence=BAE40292.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; fibrillar center mesoderm formation thioredoxin-disulfide reductase activity nucleus nucleoplasm cytoplasm mitochondrion cytosol response to oxidative stress gastrulation cell proliferation electron carrier activity positive regulation of cell death NAD(P)H oxidase activity selenocysteine metabolic process oxidoreductase activity oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor electron transport chain selenate reductase activity benzene-containing compound metabolic process hydrogen peroxide catabolic process protein homodimerization activity neuronal cell body mercury ion binding cell redox homeostasis flavin adenine dinucleotide binding protein tetramerization oxidation-reduction process NADPH oxidation cellular oxidant detoxification uc007gka.1 uc007gka.2 uc007gka.3 
ENSMUST00000020485.11 Glt8d2 ENSMUST00000020485.11 glycosyltransferase 8 domain containing 2 (from RefSeq NM_029102.4) ENSMUST00000020485.1 ENSMUST00000020485.10 ENSMUST00000020485.2 ENSMUST00000020485.3 ENSMUST00000020485.4 ENSMUST00000020485.5 ENSMUST00000020485.6 ENSMUST00000020485.7 ENSMUST00000020485.8 ENSMUST00000020485.9 GL8D2_MOUSE NM_029102 Q640P4 Q9D163 uc007gjs.1 uc007gjs.2 uc007gjs.3 Membrane ; Single-pass type II membrane protein Belongs to the glycosyltransferase 8 family. Golgi apparatus membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups uc007gjs.1 uc007gjs.2 uc007gjs.3 
ENSMUST00000020488.9 Nopchap1 ENSMUST00000020488.9 NOP protein chaperone 1 (from RefSeq NM_026579.3) D10Wsu102e ENSMUST00000020488.1 ENSMUST00000020488.2 ENSMUST00000020488.3 ENSMUST00000020488.4 ENSMUST00000020488.5 ENSMUST00000020488.6 ENSMUST00000020488.7 ENSMUST00000020488.8 NM_026579 NOPC1_MOUSE Nopchap1 Q3TS58 Q3TV68 Q9CX66 uc007gkg.1 uc007gkg.2 uc007gkg.3 uc007gkg.4 Client-loading PAQosome/R2TP complex cofactor that selects NOP58 to promote box C/D small nucleolar ribonucleoprotein (snoRNP) assembly. Acts as a bridge between NOP58 and the R2TP complex via RUVBL1:RUVBL2. Interacts with NOP58, RUVBL1 and RUVBL2; the interactions are direct and NOPCHAP1 bridges the association of NOP58 with RUVBL1:RUVBL2 even in absence of snoRNAs. The interactions with RUVBL1 and RUVBL2 are disrupted upon ATP binding. Nucleus molecular_function cellular_component biological_process uc007gkg.1 uc007gkg.2 uc007gkg.3 uc007gkg.4 
ENSMUST00000020490.13 Wdr82 ENSMUST00000020490.13 WD repeat domain containing 82 (from RefSeq NM_029896.1) Cdw5 ENSMUST00000020490.1 ENSMUST00000020490.10 ENSMUST00000020490.11 ENSMUST00000020490.12 ENSMUST00000020490.2 ENSMUST00000020490.3 ENSMUST00000020490.4 ENSMUST00000020490.5 ENSMUST00000020490.6 ENSMUST00000020490.7 ENSMUST00000020490.8 ENSMUST00000020490.9 NM_029896 Q8BFQ4 Q8K2G5 Q8VEE8 WDR82_MOUSE Wdr82 uc009rjc.1 uc009rjc.2 uc009rjc.3 Regulatory component of the SET1 complex implicated in the tethering of this complex to transcriptional start sites of active genes (By similarity). Facilitates histone H3 'Lys-4' methylation (H3K4me) via recruitment of the SETD1A or SETD1B to the 'Ser-5' phosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A) (By similarity). Component of PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase (By similarity). Together with ZC3H4, but independently of the SET1 complex, part of a transcription termination checkpoint that promotes transcription termination of long non-coding RNAs (lncRNAs) (PubMed:33767452). The transcription termination checkpoint is activated by the inefficiently spliced first exon of lncRNAs and promotes transcription termination of lncRNAs and their subsequent degradation by the exosome (PubMed:33767452). Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30 (By similarity). Component of the PTW/PP1 phosphatase complex, composed of PPP1R10/PNUTS, TOX4, WDR82, and PPP1CA or PPP1CB or PPP1CC (By similarity). Associated with multiple protein complexes including an RNA polymerase II complex, MLL3/MLL4 complex and a chaperonin-containing TCP1 complex (By similarity). Interacts with CUL4B (PubMed:17041588). Interacts with RBBP5 and SETD1B (By similarity). Interacts with SETD1A (via RRM domain) (By similarity). Interacts with POLR2B (By similarity). Interacts with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A) (By similarity). Binds specifically to CTD heptad repeats phosphorylated on 'Ser-5' of each heptad (By similarity). SETD1A enhances its interaction with POLR2A (By similarity). Interacts with PPP1R10/PNUTS (By similarity). Interacts with PPP1CA in the presence of PPP1R10/PNUTS (By similarity). Interacts with ZC3H4; interaction is independent of the SET1 complex and promotes transcription termination of long non-coding RNAs (lncRNAs) (PubMed:33767452). Nucleus Chromosome Note=Associates with chromatin (By similarity). Recruited at sites of high RNA polymerase II occupancy (PubMed:33767452). Belongs to the WD repeat SWD2 family. nuclear chromosome, telomeric region chromatin chromatin binding nucleus nucleolus histone methyltransferase complex histone methyltransferase activity (H3-K4 specific) Set1C/COMPASS complex histone H3-K4 methylation PTW/PP1 phosphatase complex histone H3-K4 trimethylation uc009rjc.1 uc009rjc.2 uc009rjc.3 
ENSMUST00000020493.9 Pofut2 ENSMUST00000020493.9 protein O-fucosyltransferase 2 (from RefSeq NM_030262.3) ENSMUST00000020493.1 ENSMUST00000020493.2 ENSMUST00000020493.3 ENSMUST00000020493.4 ENSMUST00000020493.5 ENSMUST00000020493.6 ENSMUST00000020493.7 ENSMUST00000020493.8 NM_030262 OFUT2_MOUSE Q8VEM2 Q8VHI3 Q9CV66 uc007fvj.1 uc007fvj.2 uc007fvj.3 Catalyzes the reaction that attaches fucose through an O- glycosidic linkage to a conserved serine or threonine residue in the consensus sequence C1-X-X-S/T-C2 of thrombospondin type I repeats (TSRs) where C1 and C2 are the first and second cysteines of the repeat, respectively (PubMed:20637190). O-fucosylates members of several protein families including the ADAMTS, the thrombospondin (TSP) and spondin families (PubMed:20637190). Required for the proper secretion of ADAMTS family members such as ADAMTSL1 and ADAMTS13 (By similarity). The O-fucosylation of TSRs is also required for restricting epithelial to mesenchymal transition (EMT), maintaining the correct patterning of mesoderm and localization of the definite endoderm (PubMed:20637190). Reaction=GDP-beta-L-fucose + L-seryl-[protein] = 3-O-(alpha-L-fucosyl)- L-seryl-[protein] + GDP + H(+); Xref=Rhea:RHEA:63644, Rhea:RHEA- COMP:9863, Rhea:RHEA-COMP:17914, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:57273, ChEBI:CHEBI:58189, ChEBI:CHEBI:189632; EC=2.4.1.221; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:63645; Evidence=; Reaction=GDP-beta-L-fucose + L-threonyl-[protein] = 3-O-(alpha-L- fucosyl)-L-threonyl-[protein] + GDP + H(+); Xref=Rhea:RHEA:70491, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:17915, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:57273, ChEBI:CHEBI:58189, ChEBI:CHEBI:189631; EC=2.4.1.221; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70492; Evidence=; Protein modification; protein glycosylation. Endoplasmic reticulum Golgi apparatus Note=Mainly located in the endoplasmic reticulum. Null mice embryos die before 10.5 dpc. At the onset of gastrulation at 6.5 dpc, embryos are rounder and the embryonic and extra-embryonic ectoderm appears thickened and disorganized. Expression of NODAL and WNT3 is significantly expanded and/or displaced in the primitive streak as is BMP4 in the extra-embryonic ectoderm. By 7.5 dpc, embryos are unusually dense and shorter characterized by a dumb-bell appearance. There is unrestricted epithelial to mesenchymal transition (EMT) producing an abundance of mesenchymal cells. SNAIL1 expression is expanded and E-cadherin expression decreased. There is distal expansion of the proximal visceral endoderm. Belongs to the glycosyltransferase 68 family. Sequence=BC018194; Type=Frameshift; Evidence=; Name=Functional Glycomics Gateway - GTase; Note=Peptide- O-fucosyltransferase 2; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_mou_620"; mesoderm formation endoplasmic reticulum Golgi apparatus carbohydrate metabolic process fucose metabolic process protein glycosylation fucosyltransferase activity regulation of gene expression regulation of epithelial to mesenchymal transition transferase activity transferase activity, transferring glycosyl groups fucosylation protein O-linked fucosylation peptide-O-fucosyltransferase activity regulation of secretion uc007fvj.1 uc007fvj.2 uc007fvj.3 
ENSMUST00000020496.14 Adarb1 ENSMUST00000020496.14 adenosine deaminase, RNA-specific, B1, transcript variant 4 (from RefSeq NR_021486.1) Adar2 C3TTQ1 ENSMUST00000020496.1 ENSMUST00000020496.10 ENSMUST00000020496.11 ENSMUST00000020496.12 ENSMUST00000020496.13 ENSMUST00000020496.2 ENSMUST00000020496.3 ENSMUST00000020496.4 ENSMUST00000020496.5 ENSMUST00000020496.6 ENSMUST00000020496.7 ENSMUST00000020496.8 ENSMUST00000020496.9 NR_021486 Q3UHM7 Q8K3X1 Q91ZS6 Q91ZS7 Q91ZS8 Q91ZS9 Q99MU8 RED1_MOUSE Red1 uc007fvp.1 uc007fvp.2 uc007fvp.3 uc007fvp.4 This gene encodes a double-stranded-RNA-specific adenosine deaminase that is involved in editing pre-mRNAs by site-specific conversion of adenosine (A) to inosine (I). Substrates for this enzyme include ionotropic glutamate receptors (GluR2-6) and serotonin receptor (5HT2C). Studies in rodents have shown that this protein can modify its own pre-mRNA by A->I editing to create a novel acceptor splice site, alternative splicing to which results in down regulation of its protein expression. Additional splicing events result in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]. Catalyzes the hydrolytic deamination of adenosine to inosine in double-stranded RNA (dsRNA) referred to as A-to-I RNA editing. This may affect gene expression and function in a number of ways that include mRNA translation by changing codons and hence the amino acid sequence of proteins; pre-mRNA splicing by altering splice site recognition sequences; RNA stability by changing sequences involved in nuclease recognition; genetic stability in the case of RNA virus genomes by changing sequences during viral RNA replication; and RNA structure-dependent activities such as microRNA production or targeting or protein-RNA interactions. Can edit both viral and cellular RNAs and can edit RNAs at multiple sites (hyper-editing) or at specific sites (site-specific editing). Its cellular RNA substrates include: bladder cancer-associated protein (BLCAP), neurotransmitter receptors for glutamate (GRIA2 and GRIK2) and serotonin (HTR2C), GABA receptor (GABRA3) and potassium voltage-gated channel (KCNA1). Site-specific RNA editing of transcripts encoding these proteins results in amino acid substitutions which consequently alter their functional activities. Edits GRIA2 at both the Q/R and R/G sites efficiently but converts the adenosine in hotspot1 much less efficiently. Can inhibit cell proliferation and migration and can stimulate exocytosis. Reaction=adenosine in double-stranded RNA + H(+) + H2O = inosine in double-stranded RNA + NH4(+); Xref=Rhea:RHEA:10120, Rhea:RHEA- COMP:13885, Rhea:RHEA-COMP:13886, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28938, ChEBI:CHEBI:74411, ChEBI:CHEBI:82852; EC=3.5.4.37; Name=1D-myo-inositol hexakisphosphate; Xref=ChEBI:CHEBI:58130; Evidence=; Note=Binds 1 myo-inositol hexakisphosphate (IP6) per subunit. ; Homodimer. Homodimerization is essential for its catalytic activity. Can form heterodimers with isoform 5 of ADAR/ADAR1 (By similarity). Nucleus Nucleus, nucleolus Note=Shuttles between nucleoli and the nucleoplasm. Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q91ZS8-1; Sequence=Displayed; Name=2; IsoId=Q91ZS8-2; Sequence=VSP_013711; Name=3; IsoId=Q91ZS8-3; Sequence=VSP_013710, VSP_013711; Name=4; IsoId=Q91ZS8-4; Sequence=VSP_013709; Name=5; IsoId=Q91ZS8-5; Sequence=VSP_013709, VSP_013711; Name=6; IsoId=Q91ZS8-6; Sequence=VSP_041423; [Isoform 6]: Likely expressed from an alternative promoter. Contains a region highly similar to the so-called ssRNA- binding R-domain of ADARB2. RNA binding double-stranded RNA binding double-stranded RNA adenosine deaminase activity adenosine deaminase activity nucleus nucleoplasm nucleolus cytoplasm cytosol adenosine to inosine editing RNA processing mRNA processing neuromuscular synaptic transmission tRNA-specific adenosine deaminase activity negative regulation of cell proliferation base conversion or substitution editing mRNA modification hydrolase activity facial nerve morphogenesis hypoglossal nerve morphogenesis spinal cord ventral commissure morphogenesis negative regulation of cell migration multicellular organism growth protein homodimerization activity negative regulation of protein kinase activity by regulation of protein phosphorylation positive regulation of viral genome replication metal ion binding positive regulation of mRNA processing neuromuscular process controlling posture regulation of cell cycle innervation muscle tissue morphogenesis motor behavior motor neuron apoptotic process uc007fvp.1 uc007fvp.2 uc007fvp.3 uc007fvp.4 
ENSMUST00000020497.14 Aldh1l2 ENSMUST00000020497.14 aldehyde dehydrogenase 1 family, member L2 (from RefSeq NM_153543.2) AL1L2_MOUSE Aldh1l2 E9QLV8 ENSMUST00000020497.1 ENSMUST00000020497.10 ENSMUST00000020497.11 ENSMUST00000020497.12 ENSMUST00000020497.13 ENSMUST00000020497.2 ENSMUST00000020497.3 ENSMUST00000020497.4 ENSMUST00000020497.5 ENSMUST00000020497.6 ENSMUST00000020497.7 ENSMUST00000020497.8 ENSMUST00000020497.9 NM_153543 Q8K009 uc007gkh.1 uc007gkh.2 uc007gkh.3 uc007gkh.4 Mitochondrial 10-formyltetrahydrofolate dehydrogenase that catalyzes the NADP(+)-dependent conversion of 10-formyltetrahydrofolate to tetrahydrofolate and carbon dioxide. Reaction=(6R)-10-formyltetrahydrofolate + H2O + NADP(+) = (6S)-5,6,7,8- tetrahydrofolate + CO2 + H(+) + NADPH; Xref=Rhea:RHEA:10180, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57453, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:195366; EC=1.5.1.6; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:10181; Evidence=; Mitochondrion The N-terminal hydrolase domain has an NADP-independent formyltetrahydrofolate hydrolase activity, releasing formate and tetrahydrofolate. The C-terminal aldehyde dehydrogenase domain has an NADP- dependent dehydrogenase activity. It catalyzes the oxidation of formate, released by the hydrolysis of formyltetrahydrofolate, into CO2. The carrier domain is phosphopantetheinylated and uses the 4'- phosphopantetheine/4'-PP swinging arm to transfer the formyl group released by the N-terminal formyltetrahydrofolate hydrolase activity to the C-terminal aldehyde dehydrogenase domain that catalyzes its NADP- dependent oxidation into CO2. The overall NADP-dependent physiological reaction requires the 3 domains (N-terminal hydrolase, C-terminal aldehyde dehydrogenase and carrier domains) to convert formyltetrahydrofolate into tetrahydrofolate and CO2. Phosphopantetheinylation at Ser-375 by AASDHPPT is required for the formyltetrahydrofolate dehydrogenase activity. Homozygous knockout mice lacking Aldh1l2 are viable and fertile and no embryonic lethality is observed (PubMed:33168096). They do not display phenotypic differences in terms of growth, food consumption and development (PubMed:33168096). 10- formyl-THF and dihydrofolate accumulate in the liver of the knockout mice. It is associated with a decrease in levels of NADPH and ATP specifically in the mitochondrion (PubMed:33168096). Male knockout mice accumulate more fats in the liver which is associated with impaired beta-oxidation of fatty acids (PubMed:33168096). In the N-terminal section; belongs to the GART family. In the C-terminal section; belongs to the aldehyde dehydrogenase family. ALDH1L subfamily. catalytic activity aldehyde dehydrogenase (NAD) activity nucleus cytoplasm mitochondrion one-carbon metabolic process biosynthetic process 10-formyltetrahydrofolate catabolic process formyltetrahydrofolate dehydrogenase activity oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor hydroxymethyl-, formyl- and related transferase activity oxidation-reduction process uc007gkh.1 uc007gkh.2 uc007gkh.3 uc007gkh.4 
ENSMUST00000020500.14 Appl2 ENSMUST00000020500.14 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (from RefSeq NM_145220.2) Appl2 DP13B_MOUSE Dip13b Dip3b ENSMUST00000020500.1 ENSMUST00000020500.10 ENSMUST00000020500.11 ENSMUST00000020500.12 ENSMUST00000020500.13 ENSMUST00000020500.2 ENSMUST00000020500.3 ENSMUST00000020500.4 ENSMUST00000020500.5 ENSMUST00000020500.6 ENSMUST00000020500.7 ENSMUST00000020500.8 ENSMUST00000020500.9 NM_145220 Q8K3G9 Q99LT7 uc007gkk.1 uc007gkk.2 uc007gkk.3 uc007gkk.4 Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:25568335, PubMed:27219021, PubMed:25328665, PubMed:19661063, PubMed:29467283). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (By similarity). Plays a role in immune response by modulating phagocytosis, inflammatory and innate immune responses (PubMed:25568335, PubMed:27219021, PubMed:25328665). In macrophages, enhances Fc-gamma receptor-mediated phagocytosis through interaction with RAB31 leading to activation of PI3K/Akt signaling (PubMed:25568335). In response to LPS, modulates inflammatory responses by playing a key role on the regulation of TLR4 signaling and in the nuclear translocation of RELA/NF-kappa-B p65 and the secretion of pro- and anti-inflammatory cytokines (PubMed:27219021). Also functions as a negative regulator of innate immune response via inhibition of AKT1 signaling pathway by forming a complex with APPL1 and PIK3R1 (PubMed:25328665). Plays a role in endosomal trafficking of TGFBR1 from the endosomes to the nucleus (By similarity). Plays a role in cell metabolism by regulating adiponectin and insulin signaling pathways and adaptative thermogenesis (PubMed:19661063, PubMed:29467283) (By similarity). In muscle, negatively regulates adiponectin-simulated glucose uptake and fatty acid oxidation by inhibiting adiponectin signaling pathway through APPL1 sequestration thereby antagonizing APPL1 action (PubMed:19661063). In muscles, negativeliy regulates insulin-induced plasma membrane recruitment of GLUT4 and glucose uptake through interaction with TBC1D1 (By similarity). Plays a role in cold and diet-induced adaptive thermogenesis by activating ventromedial hypothalamus (VMH) neurons throught AMPK inhibition which enhances sympathetic outflow to subcutaneous white adipose tissue (sWAT), sWAT beiging and cold tolerance (PubMed:29467283). Also plays a role in other signaling pathways namely Wnt/beta-catenin, HGF and glucocorticoid receptor signaling (PubMed:28965332, PubMed:29675572, PubMed:26445298). Positive regulator of beta-catenin/TCF-dependent transcription through direct interaction with RUVBL2/reptin resulting in the relief of RUVBL2- mediated repression of beta-catenin/TCF target genes by modulating the interactions within the beta-catenin-reptin-HDAC complex (By similarity). May affect adult neurogenesis in hippocampus and olfactory system via regulating the sensitivity of glucocorticoid receptor (PubMed:28965332, PubMed:29675572). Required for fibroblast migration through HGF cell signaling (PubMed:26445298). Homodimer. Homotetramer (By similarity). Binds RAB5A/Rab5 through an N-terminal domain (PubMed:25568335). This interaction is essential for its recruitment to endosomal membranes as well as its role in cell proliferation. Binds subunits of the NuRD/MeCP1 complex (By similarity). Interacts with FSHR; interaction is independent of follicle stimulating hormone stimulation (By similarity). Interacts with APPL1; the interaction is decreased by adiponectin in a time- dependent manner (PubMed:19661063, PubMed:25328665). Forms a complex comprising APPL1, RUVBL2, CTNNB1, HDAC1 and HDAC2; interaction reduces interaction between CTNNB1, HDAC1, HDAC2 and RUVBL2 leading to the decrease of deacetylase activity of this complex; affects the recruitment of repressive complexes to the Wnt target genes (By similarity). Interacts (via BAR domain) with TBC1D1; interaction is dependent of TBC1D1 phosphorylation at 'Ser-235'; interaction diminishes the phosphorylation of TBC1D1 at 'Thr-596', resulting in inhibition of SLC2A4 translocation and glucose uptake (PubMed:24879834). Interacts with ANXA2; targets APPL2 to endosomes and acting in parallel to RAB5A (By similarity). Interacts with RAB31 (in GTP-bound form); interaction contributes to or enhances recruitment of APPL2 to the phagosomes; interaction enhances Fc-gamma receptor- mediated phagocytosis through PI3K/Akt signaling in macrophages (PubMed:25568335). Interacts with PIK3R1; forms a complex with PIK3R1 and APPL1 (PubMed:25328665). Interacts (via BAR domain) with ADIPOR1; hinders the accessibility of APPL1 to ADIPOR1; negatively regulates adiponectin signaling; ADIPOQ dissociates this interaction and facilitates the recruitment of APPL1 to ADIPOR1 (PubMed:19661063). Interacts (via BAR domain) with ADIPOR2; ADIPOQ dissociates this interaction (PubMed:19661063). Q8K3G9; Q60949: Tbc1d1; NbExp=2; IntAct=EBI-647007, EBI-21012140; Early endosome membrane ; Peripheral membrane protein Nucleus Cell membrane Endosome membrane Cytoplasm toplasmic vesicle, phagosome Cell projection, ruffle Cell projection, ruffle membrane Cell membrane Cytoplasmic vesicle, phagosome membrane Note=Early endosomal membrane-bound and nuclear. Translocated into the nucleus upon release from endosomal membranes following internalization of EGF (By similarity). Associates dynamically with cytoplasmic membrane structures that undergo changes in shape, movement, fusion and fission events. PI(4,5)P2 levels are important for membrane association of APPL2 (By similarity). Absent of endosome in macrophage. Colocalized with RAB31 at early-stage phagosome (PubMed:25568335). Localized on macropinosomes in LPS-activated macrophages. Associated with membrane domains in contact with pathogens and pathogen-derived ligands like LPS. First recruited to the ruffles, and accumulates on macropinosomes (PubMed:27219021). Expressed in insulin-target tissues including skeletal muscle, liver, fat, and brain. Highly expressed in kidney and pancreas (PubMed:19661063). Abundantly expressed in the ventromedial hypothalamus (VMH), barely detectable in the arcuate nucleus (ARC) and paraventricular nucleus (PVN) of the hypothalamus. Also expressed in pancreatic beta-cells (PubMed:29467283). Decreases steadily in response to lipopolysaccharide (LPS). The BAR domain is necessary and sufficient for mediating homotypic and heterotypic interactions; associates with cytoplasmic membrane structures; mediates interaction with TBC1D1 and ADIPOR1 (PubMed:24879834, PubMed:19661063). The PH and PID domains mediate phosphoinositide binding. The PID domain mediates phosphatidylserine binding and allows localization to cytosolic membrane structures and nucleus. The PH domain allows localization to the plasma membrane, cytosolic vesicles and distinct nuclear and perinuclear structures and is sufficient for RUVBL2 interaction (By similarity). Mice have normal food intake, body weight, and fasting glucose and insulin levels (PubMed:24879834). Mice are viable and grow normally to adulthood (PubMed:26445298). Appl1 and Appl2 double knockout mice are viable and grossly normal with regard to reproductive potential and postnatal growth (PubMed:26445298). Reduced survival rate after injection of LPS (PubMed:25328665). Conditional knockout mice Appl2 in pancreatic beta-cells and/or ventromedial hypothalamus (VMH) have no obvious effect on circulating level of insulin, body weight, food intake, respiratory exchange ratio (RER), and locomotor activity, but gradually increased adiposity and diminished energy expenditure. Mice exhibit cold intolerance and impairment of cold-induced thermogenesis, beiging program, and SNS outflow in subcutaneous white adipose tissue (sWAT). Conditional knockout mice Appl2 in ventromedial hypothalamus (VMH) have the same phenotype as above (PubMed:29467283). ruffle phosphatidylserine binding diet induced thermogenesis protein binding nucleus cytoplasm endosome plasma membrane protein import into nucleus cell cycle transforming growth factor beta receptor signaling pathway cell proliferation cold acclimation endosome membrane regulation of fibroblast migration membrane Rab GTPase binding signaling phagocytic vesicle membrane cytoplasmic vesicle early endosome membrane vesicle early phagosome ruffle membrane adiponectin-activated signaling pathway regulation of toll-like receptor 4 signaling pathway phosphatidylinositol binding cellular response to hepatocyte growth factor stimulus early phagosome membrane glucose homeostasis protein homodimerization activity cell projection macropinosome macromolecular complex binding regulation of innate immune response phagocytic vesicle negative regulation of fatty acid oxidation negative regulation of glucose import negative regulation of neurogenesis protein homotetramerization positive regulation of phagocytosis, engulfment negative regulation of cytokine production involved in inflammatory response negative regulation of cellular response to insulin stimulus positive regulation of macropinocytosis positive regulation of Fc-gamma receptor signaling pathway involved in phagocytosis negative regulation of neural precursor cell proliferation uc007gkk.1 uc007gkk.2 uc007gkk.3 uc007gkk.4 
ENSMUST00000020501.15 Sumo3 ENSMUST00000020501.15 small ubiquitin-like modifier 3, transcript variant 5 (from RefSeq NR_125904.1) ENSMUST00000020501.1 ENSMUST00000020501.10 ENSMUST00000020501.11 ENSMUST00000020501.12 ENSMUST00000020501.13 ENSMUST00000020501.14 ENSMUST00000020501.2 ENSMUST00000020501.3 ENSMUST00000020501.4 ENSMUST00000020501.5 ENSMUST00000020501.6 ENSMUST00000020501.7 ENSMUST00000020501.8 ENSMUST00000020501.9 NR_125904 Q14C17 Q3TBL9 Q3UDI5 Q9Z172 SUMO3_MOUSE Smt3a Smt3h1 Sumo3 uc007fvy.1 uc007fvy.2 uc007fvy.3 This gene encodes a member of the small ubiquitin-like modifier family. The encoded protein may regulate a variety of proteins in many pathways via a post-translational modification, known as SUMOylation. This activity may play a role in a wide variety of cellular processes, including nuclear transport, DNA replication and repair, mitosis, transcriptional regulation, and signal transduction. Disruption of some of these processes has been associated with cerebral ischemia, neural dysfunction, and heart disease. A pseudogene of this gene has been defined on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]. Ubiquitin-like protein which can be covalently attached to target lysines either as a monomer or as a lysine-linked polymer. Does not seem to be involved in protein degradation and may function as an antagonist of ubiquitin in the degradation process. Plays a role in a number of cellular processes such as nuclear transport, DNA replication and repair, mitosis and signal transduction. Covalent attachment to its substrates requires prior activation by the E1 complex SAE1-SAE2 and linkage to the E2 enzyme UBE2I, and can be promoted by an E3 ligase such as PIAS1-4, RANBP2 or CBX4. Plays a role in the regulation of sumoylation status of SETX (By similarity). Interacts with SAE2 and UBE2I. Covalently attached to a number of proteins. Interacts with USP25 (via ts SIM domain); the interaction sumoylates USP25 and inhibits its ubiquitin hydrolyzing activity (By similarity). Interacts with BMAL1. Cytoplasm Nucleus Nucleus, PML body Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Z172-1; Sequence=Displayed; Name=2; IsoId=Q9Z172-2; Sequence=VSP_021948; Polymeric chains can be formed through Lys-11 cross-linking. Cleavage of precursor form by SENP1, SENP2 or SENP5 is necessary for function. Belongs to the ubiquitin family. SUMO subfamily. nucleus nucleoplasm cytoplasm nuclear body PML body protein sumoylation SUMO transferase activity enzyme binding protein localization to nucleus negative regulation of DNA binding positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process uc007fvy.1 uc007fvy.2 uc007fvy.3 
ENSMUST00000020502.9 Slc36a3 ENSMUST00000020502.9 solute carrier family 36 (proton/amino acid symporter), member 3, transcript variant 1 (from RefSeq NM_172258.4) ENSMUST00000020502.1 ENSMUST00000020502.2 ENSMUST00000020502.3 ENSMUST00000020502.4 ENSMUST00000020502.5 ENSMUST00000020502.6 ENSMUST00000020502.7 ENSMUST00000020502.8 NM_172258 Pat3 Q811P0 Q8CH37 S36A3_MOUSE Tramd2 uc007iyx.1 uc007iyx.2 uc007iyx.3 Membrane ; Multi-pass membrane protein Specifically expressed in testis. Belongs to the amino acid/polyamine transporter 2 family. amino acid transmembrane transport hydrogen:amino acid symporter activity hydrogen ion transmembrane transporter activity amino acid transmembrane transporter activity L-alanine transmembrane transporter activity glycine transmembrane transporter activity L-proline transmembrane transporter activity L-alanine transport glycine transport membrane integral component of membrane proline transmembrane transport hydrogen ion transmembrane transport uc007iyx.1 uc007iyx.2 uc007iyx.3 
ENSMUST00000020504.6 Hint1 ENSMUST00000020504.6 histidine triad nucleotide binding protein 1 (from RefSeq NM_008248.3) ENSMUST00000020504.1 ENSMUST00000020504.2 ENSMUST00000020504.3 ENSMUST00000020504.4 ENSMUST00000020504.5 HINT1_MOUSE Hint NM_008248 P70349 Pkci Pkci1 Prkcnh1 uc007iyj.1 uc007iyj.2 uc007iyj.3 Exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2 (By similarity). Hydrolyzes adenosine 5'monophosphomorpholidate (AMP-morpholidate) and guanosine 5'monophosphomorpholidate (GMP- morpholidate) (By similarity). Hydrolyzes lysyl-AMP (AMP-N-epsilon-(N- alpha-acetyl lysine methyl ester)) generated by lysine tRNA ligase, as well as Met-AMP, His-AMP and Asp-AMP, lysyl-GMP (GMP-N-epsilon-(N- alpha-acetyl lysine methyl ester)) and AMP-N-alanine methyl ester (By similarity). Can also convert adenosine 5'-O-phosphorothioate and guanosine 5'-O-phosphorothioate to the corresponding nucleoside 5'-O- phosphates with concomitant release of hydrogen sulfide (By similarity). In addition, functions as a scaffolding protein that modulates transcriptional activation by the LEF1/TCF1-CTNNB1 complex and by the complex formed with MITF and CTNNB1 (By similarity). Modulates p53/TP53 levels and p53/TP53-mediated apoptosis. Modulates proteasomal degradation of target proteins by the SCF (SKP2-CUL1-F-box protein) E3 ubiquitin-protein ligase complex (By similarity). Also exhibits SUMO-specific isopeptidase activity, deconjugating SUMO1 from RANGAP1 and RGS17 (PubMed:31088288). Reaction=adenosine 5'-phosphoramidate + H2O = AMP + NH4(+); Xref=Rhea:RHEA:67916, ChEBI:CHEBI:15377, ChEBI:CHEBI:28938, ChEBI:CHEBI:57890, ChEBI:CHEBI:456215; Evidence=; Desumoylase activity is inhibited by zinc ions, and inhibition is released by nitric oxide or calcium-activated calmodulin. Homodimer (By similarity). Interacts with CDK7 (By similarity). Interacts with RUVBL1 and RUVBL2 and is associated with the LEF1/TCF1-CTNNB1 complex and with a KAT5 histone acetyltransferase complex (By similarity). Identified in a complex with MITF and CTNNB1 (By similarity). Interacts with CDC34 and RBX1, and is part of a SCF (SKP2-CUL1-F-box protein) E3 ubiquitin-protein ligase complex (By similarity). Interacts with SUMO1, SUMO2 and RGS17 (PubMed:31088288). Interacts with the Ten-1 ICD form of TENM1 (PubMed:31088288). Interacts with CALM1; interaction increases in the presence of calcium ions (PubMed:31088288). Cytoplasm Nucleus No visible phenotype. Mice display increased susceptibility to carcinogens. Belongs to the HINT family. Was originally thought to be a protein kinase C inhibitor and to bind zinc in solution. Both seem to be incorrect. histone deacetylase complex nucleotide binding catalytic activity nucleus cytoplasm cytosol plasma membrane regulation of transcription, DNA-templated apoptotic process purine ribonucleotide catabolic process hydrolase activity positive regulation of calcium-mediated signaling intrinsic apoptotic signaling pathway by p53 class mediator uc007iyj.1 uc007iyj.2 uc007iyj.3 
ENSMUST00000020507.8 Fgf18 ENSMUST00000020507.8 fibroblast growth factor 18, transcript variant 2 (from RefSeq NR_102395.1) ENSMUST00000020507.1 ENSMUST00000020507.2 ENSMUST00000020507.3 ENSMUST00000020507.4 ENSMUST00000020507.5 ENSMUST00000020507.6 ENSMUST00000020507.7 FGF18_MOUSE NR_102395 O89101 uc007ikc.1 uc007ikc.2 uc007ikc.3 uc007ikc.4 uc007ikc.5 Plays an important role in the regulation of cell proliferation, cell differentiation and cell migration. Required for normal ossification and bone development. Stimulates hepatic and intestinal proliferation (By similarity). Interacts with FGFR3 and FGFR4. Secreted Belongs to the heparin-binding growth factors family. ossification angiogenesis intramembranous ossification endochondral ossification chondrocyte development fibroblast growth factor receptor binding type 1 fibroblast growth factor receptor binding type 2 fibroblast growth factor receptor binding extracellular region nucleus nucleolus cytoplasm signal transduction nervous system development growth factor activity cell proliferation positive regulation of cell proliferation fibroblast growth factor receptor signaling pathway lung development positive regulation of vascular endothelial growth factor receptor signaling pathway positive regulation of chondrocyte differentiation positive regulation of MAP kinase activity positive regulation of blood vessel endothelial cell migration positive regulation of angiogenesis positive regulation of ERK1 and ERK2 cascade positive regulation of endothelial cell chemotaxis to fibroblast growth factor uc007ikc.1 uc007ikc.2 uc007ikc.3 uc007ikc.4 uc007ikc.5 
ENSMUST00000020508.4 Smim23 ENSMUST00000020508.4 small integral membrane protein 23 (from RefSeq NM_027050.1) ENSMUST00000020508.1 ENSMUST00000020508.2 ENSMUST00000020508.3 NM_027050 Q9DAL0 SIM23_MOUSE uc007ikb.1 uc007ikb.2 uc007ikb.3 uc007ikb.4 Membrane ; Single-pass membrane protein molecular_function cellular_component biological_process membrane integral component of membrane uc007ikb.1 uc007ikb.2 uc007ikb.3 uc007ikb.4 
ENSMUST00000020513.10 Papolg ENSMUST00000020513.10 poly(A) polymerase gamma (from RefSeq NM_172555.2) ENSMUST00000020513.1 ENSMUST00000020513.2 ENSMUST00000020513.3 ENSMUST00000020513.4 ENSMUST00000020513.5 ENSMUST00000020513.6 ENSMUST00000020513.7 ENSMUST00000020513.8 ENSMUST00000020513.9 NM_172555 PAPOG_MOUSE Q6PCL9 Q8BZC9 uc007ifp.1 uc007ifp.2 uc007ifp.3 uc007ifp.4 Responsible for the post-transcriptional adenylation of the 3'-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA. Reaction=ATP + RNA(n) = diphosphate + RNA(n)-3'-adenine ribonucleotide; Xref=Rhea:RHEA:11332, Rhea:RHEA-COMP:14527, Rhea:RHEA-COMP:17347, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:140395, ChEBI:CHEBI:173115; EC=2.7.7.19; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 magnesium ions. Also active with manganese. ; Nucleus Belongs to the poly(A) polymerase family. nucleotide binding RNA binding polynucleotide adenylyltransferase activity ATP binding nucleus nucleoplasm cytosol mRNA polyadenylation mRNA processing nuclear body transferase activity nucleotidyltransferase activity RNA 3'-end processing RNA polyadenylation metal ion binding uc007ifp.1 uc007ifp.2 uc007ifp.3 uc007ifp.4 
ENSMUST00000020522.9 Pfkl ENSMUST00000020522.9 phosphofructokinase, liver, B-type, transcript variant 1 (from RefSeq NM_008826.5) ENSMUST00000020522.1 ENSMUST00000020522.2 ENSMUST00000020522.3 ENSMUST00000020522.4 ENSMUST00000020522.5 ENSMUST00000020522.6 ENSMUST00000020522.7 ENSMUST00000020522.8 NM_008826 P12382 PFKAL_MOUSE Pfk-l Pfkb Pfkl Q8VDX7 uc007fwo.1 uc007fwo.2 uc007fwo.3 uc007fwo.4 uc007fwo.5 Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis (By similarity). Negatively regulates the phagocyte oxidative burst in response to bacterial infection by controlling cellular NADPH biosynthesis and NADPH oxidase-derived reactive oxygen species. Upon macrophage activation, drives the metabolic switch toward glycolysis, thus preventing glucose turnover that produces NADPH via pentose phosphate pathway (PubMed:26194095). Reaction=ATP + beta-D-fructose 6-phosphate = ADP + beta-D-fructose 1,6- bisphosphate + H(+); Xref=Rhea:RHEA:16109, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:32966, ChEBI:CHEBI:57634, ChEBI:CHEBI:456216; EC=2.7.1.11; Evidence= Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Allosterically activated by ADP, AMP, or fructose 2,6-bisphosphate, and allosterically inhibited by ATP or citrate. GlcNAcylation by OGT overcomes allosteric regulation (By similarity). Carbohydrate degradation; glycolysis; D-glyceraldehyde 3- phosphate and glycerone phosphate from D-glucose: step 3/4. Homo- and heterotetramers (By similarity). Phosphofructokinase (PFK) enzyme functions as a tetramer composed of different combinations of 3 types of subunits, called PFKM (M), PFKL (L) and PFKP (P). The composition of the PFK tetramer differs according to the tissue type it is present in. The kinetic and regulatory properties of the tetrameric enzyme are dependent on the subunit composition, hence can vary across tissues (Probable). Cytoplasm GlcNAcylation at Ser-529 by OGT decreases enzyme activity, leading to redirect glucose flux through the oxidative pentose phosphate pathway. Glycosylation is stimulated by both hypoxia and glucose deprivation (By similarity). Belongs to the phosphofructokinase type A (PFKA) family. ATP-dependent PFK group I subfamily. Eukaryotic two domain clade 'E' sub-subfamily. nucleotide binding catalytic activity 6-phosphofructokinase activity ATP binding cytoplasm cytosol 6-phosphofructokinase complex carbohydrate metabolic process fructose 6-phosphate metabolic process glucose catabolic process glycolytic process metabolic process response to glucose membrane AMP binding kinase activity phosphorylation transferase activity kinase binding fructose 1,6-bisphosphate metabolic process identical protein binding negative regulation of insulin secretion metal ion binding monosaccharide binding protein oligomerization protein homotetramerization glycolytic process through fructose-6-phosphate canonical glycolysis fructose binding fructose-6-phosphate binding uc007fwo.1 uc007fwo.2 uc007fwo.3 uc007fwo.4 uc007fwo.5 
ENSMUST00000020523.4 Pex13 ENSMUST00000020523.4 peroxisomal biogenesis factor 13, transcript variant 1 (from RefSeq NM_023651.5) ENSMUST00000020523.1 ENSMUST00000020523.2 ENSMUST00000020523.3 NM_023651 PEX13_MOUSE Pex13 Q3U5T1 Q8CCJ5 Q8CCW5 Q99MM2 Q9D0K1 Q9EPK1 uc007ifj.1 uc007ifj.2 uc007ifj.3 Component of the PEX13-PEX14 docking complex, a translocon channel that specifically mediates the import of peroxisomal cargo proteins bound to PEX5 receptor (By similarity). The PEX13-PEX14 docking complex forms a large import pore which can be opened to a diameter of about 9 nm (By similarity). Mechanistically, PEX5 receptor along with cargo proteins associates with the PEX14 subunit of the PEX13-PEX14 docking complex in the cytosol, leading to the insertion of the receptor into the organelle membrane with the concomitant translocation of the cargo into the peroxisome matrix. Involved in the import of PTS1- and PTS2-type containing proteins (By similarity). Interacts (via SH3 domain) with PEX14 (via SH3-binding motif); forming the PEX13-PEX14 docking complex. Interacts with PEX19. Peroxisome membrane ; Multi-pass membrane protein Belongs to the peroxin-13 family. peroxisome targeting sequence binding fatty acid alpha-oxidation neuron migration suckling behavior peroxisome peroxisomal membrane integral component of peroxisomal membrane locomotory behavior protein transport membrane integral component of membrane protein import into peroxisome matrix, docking cerebral cortex cell migration intracellular membrane-bounded organelle microtubule-based peroxisome localization peroxisomal importomer complex uc007ifj.1 uc007ifj.2 uc007ifj.3 
ENSMUST00000020524.15 Rhbdf1 ENSMUST00000020524.15 rhomboid 5 homolog 1, transcript variant 1 (from RefSeq NM_010117.2) A2AVE2 Dist1 ENSMUST00000020524.1 ENSMUST00000020524.10 ENSMUST00000020524.11 ENSMUST00000020524.12 ENSMUST00000020524.13 ENSMUST00000020524.14 ENSMUST00000020524.2 ENSMUST00000020524.3 ENSMUST00000020524.4 ENSMUST00000020524.5 ENSMUST00000020524.6 ENSMUST00000020524.7 ENSMUST00000020524.8 ENSMUST00000020524.9 Irhom1 Kiaa4242 NM_010117 Q04843 Q5DTF4 Q6PIX5 Q6PJ49 Q8VIK0 RHDF1_MOUSE uc007ijb.1 uc007ijb.2 uc007ijb.3 uc007ijb.4 Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own. Homodimer, or homooligomer. Interacts with TGFA and HBEGF (By similarity). Interacts with EGF; may retain EGF in the endoplasmic reticulum and regulates its degradation through the endoplasmic reticulum-associated degradation (ERAD) (PubMed:21439629). Interacts (via cytoplasmic N-terminus) with FRMD8/iTAP; this interaction leads to mutual protein stabilization (By similarity). Interacts with ADAM17/TACE (By similarity). Endoplasmic reticulum membrane ; Multi-pass membrane protein Golgi apparatus membrane ; Multi-pass membrane protein Note=Predominantly localized in the endoplasmic reticulum membrane. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6PIX5-1; Sequence=Displayed; Name=2; IsoId=Q6PIX5-2; Sequence=VSP_034190, VSP_034191; Expressed in the duodenum, as well as in fetal liver and head. Belongs to the peptidase S54 family. Sequence=AAA02574.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=AAL32367.1; Type=Erroneous gene model prediction; Evidence=; Sequence=BAD90543.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Golgi membrane endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus proteolysis cell proliferation membrane integral component of membrane cell migration regulation of epidermal growth factor receptor signaling pathway regulation of protein secretion negative regulation of protein secretion regulation of proteasomal protein catabolic process serine-type endopeptidase activity uc007ijb.1 uc007ijb.2 uc007ijb.3 uc007ijb.4 
ENSMUST00000020527.13 1700093K21Rik ENSMUST00000020527.13 RIKEN cDNA 1700093K21 gene, transcript variant 1 (from RefSeq NM_026105.5) 1700093K21Rik A0A6Q6PKH4 A0A6Q6PKH4_MOUSE ENSMUST00000020527.1 ENSMUST00000020527.10 ENSMUST00000020527.11 ENSMUST00000020527.12 ENSMUST00000020527.2 ENSMUST00000020527.3 ENSMUST00000020527.4 ENSMUST00000020527.5 ENSMUST00000020527.6 ENSMUST00000020527.7 ENSMUST00000020527.8 ENSMUST00000020527.9 NM_026105 uc007ife.1 uc007ife.2 uc007ife.3 uc007ife.1 uc007ife.2 uc007ife.3 
ENSMUST00000020528.14 Mpg ENSMUST00000020528.14 N-methylpurine-DNA glycosylase (from RefSeq NM_010822.3) 3MG_MOUSE A2AVE7 ENSMUST00000020528.1 ENSMUST00000020528.10 ENSMUST00000020528.11 ENSMUST00000020528.12 ENSMUST00000020528.13 ENSMUST00000020528.2 ENSMUST00000020528.3 ENSMUST00000020528.4 ENSMUST00000020528.5 ENSMUST00000020528.6 ENSMUST00000020528.7 ENSMUST00000020528.8 ENSMUST00000020528.9 Mid1 NM_010822 Q04841 Q64182 uc007ijd.1 uc007ijd.2 uc007ijd.3 uc007ijd.4 Hydrolysis of the deoxyribose N-glycosidic bond to excise 3- methyladenine, and 7-methylguanine from the damaged DNA polymer formed by alkylation lesions. Reaction=Hydrolysis of alkylated DNA, releasing 3-methyladenine, 3- methylguanine, 7-methylguanine and 7-methyladenine.; EC=3.2.2.21; Binding to SSBP1 in mitochondria inhibits glycosylase activity in the context of a single-stranded DNA (ssDNA), but not a double-stranded DNA (dsDNA) substrates. Binds MBD1. Binds SSBP1. Cytoplasm Mitochondrion matrix, mitochondrion nucleoid Nucleus Belongs to the DNA glycosylase MPG family. DNA binding catalytic activity alkylbase DNA N-glycosylase activity nucleus cytoplasm mitochondrion DNA repair base-excision repair cellular response to DNA damage stimulus DNA-3-methyladenine glycosylase activity hydrolase activity mitochondrial nucleoid DNA-7-methylguanine glycosylase activity DNA-7-methyladenine glycosylase activity DNA-3-methylguanine glycosylase activity uc007ijd.1 uc007ijd.2 uc007ijd.3 uc007ijd.4 
ENSMUST00000020529.13 Ahsa2 ENSMUST00000020529.13 AHA1, activator of heat shock protein ATPase 2, transcript variant 1 (from RefSeq NM_172391.4) AHSA2_MOUSE ENSMUST00000020529.1 ENSMUST00000020529.10 ENSMUST00000020529.11 ENSMUST00000020529.12 ENSMUST00000020529.2 ENSMUST00000020529.3 ENSMUST00000020529.4 ENSMUST00000020529.5 ENSMUST00000020529.6 ENSMUST00000020529.7 ENSMUST00000020529.8 ENSMUST00000020529.9 NM_172391 Q0P626 Q6P3F2 Q7TMW7 Q8CBI4 Q8N9S3 uc007ifb.1 uc007ifb.2 uc007ifb.3 uc007ifb.4 Co-chaperone that stimulates HSP90 ATPase activity. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8N9S3-1; Sequence=Displayed; Name=2; IsoId=Q8N9S3-2; Sequence=VSP_030572; Name=3; IsoId=Q8N9S3-3; Sequence=VSP_030573; Belongs to the AHA1 family. Sequence=AAH38397.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; ATPase activator activity molecular_function cellular_component biological_process positive regulation of ATPase activity chaperone binding Hsp90 protein binding uc007ifb.1 uc007ifb.2 uc007ifb.3 uc007ifb.4 
ENSMUST00000020530.12 Nprl3 ENSMUST00000020530.12 nitrogen permease regulator-like 3, transcript variant 2 (from RefSeq NM_181569.3) ENSMUST00000020530.1 ENSMUST00000020530.10 ENSMUST00000020530.11 ENSMUST00000020530.2 ENSMUST00000020530.3 ENSMUST00000020530.4 ENSMUST00000020530.5 ENSMUST00000020530.6 ENSMUST00000020530.7 ENSMUST00000020530.8 ENSMUST00000020530.9 Mare NM_181569 NPRL3_MOUSE Nprl3 Q8VIJ8 uc007ijf.1 uc007ijf.2 uc007ijf.3 As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the mTORC1 pathway. In response to amino acid depletion, the GATOR1 complex has GTPase activating protein (GAP) activity and strongly increases GTP hydrolysis by RagA/RRAGA (or RagB/RRAGB) within heterodimeric Rag complexes, thereby turning them into their inactive GDP-bound form, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. In the presence of abundant amino acids, the GATOR1 complex is negatively regulated by GATOR2, the other GATOR subcomplex, in this amino acid- sensing branch of the TORC1 pathway. Within the GATOR complex, component of the GATOR1 subcomplex, made of DEPDC5, NPRL2 and NPRL3. GATOR1 mediates the strong interaction of the GATOR complex with small GTPases Rag (RagA/RRAGA, RagB/RRAGB, RagC/RRAGC and/or RagD/RRAGD) heterodimers. GATOR1 interacts with GPR155/LYCHOS; interaction takes place in presence of cholesterol and prevents interaction between GATOR1 and KICSTOR. Lysosome membrane Note=Localization to lysosomes is mediated by the KICSTOR complex and is amino acid-independent. Lethality towards the end of gestation caused by a range of cardiac defects, including outflow tract abnormalities and ventricular-septal defects. Belongs to the NPR3 family. ventricular septum development GTPase activator activity lysosome lysosomal membrane membrane negative regulation of TOR signaling cellular response to amino acid starvation aorta morphogenesis TORC1 signaling positive regulation of GTPase activity cardiac muscle tissue development palate development Iml1 complex regulation of autophagosome assembly uc007ijf.1 uc007ijf.2 uc007ijf.3 
ENSMUST00000020531.9 Hba-x ENSMUST00000020531.9 hemoglobin X, alpha-like embryonic chain in Hba complex (from RefSeq NM_010405.4) ENSMUST00000020531.1 ENSMUST00000020531.2 ENSMUST00000020531.3 ENSMUST00000020531.4 ENSMUST00000020531.5 ENSMUST00000020531.6 ENSMUST00000020531.7 ENSMUST00000020531.8 Glne1 Hba-x NM_010405 Q78PA4 Q78PA4_MOUSE haemaglobin zeta chain uc007ijj.1 uc007ijj.2 uc007ijj.3 uc007ijj.4 uc007ijj.5 The zeta chain is an alpha-type chain of mammalian embryonic hemoglobin. Belongs to the globin family. oxygen transporter activity iron ion binding hemoglobin complex oxygen transport oxygen binding heme binding metal ion binding uc007ijj.1 uc007ijj.2 uc007ijj.3 uc007ijj.4 uc007ijj.5 
ENSMUST00000020535.2 Hbq1a ENSMUST00000020535.2 hemoglobin, theta 1A (from RefSeq NM_175000.2) ENSMUST00000020535.1 Glnd2 Hbq1 Hbq1a NM_175000 Q8BYM1 Q8BYM1_MOUSE uc007ijn.1 uc007ijn.2 This gene is one of two mouse theta-globin genes found in the alpha-globin gene cluster on chromosome 11. This gene represents the T2 (or 3') theta-globin gene described in PMIDs 18245844 and 11157800, respectively. [provided by RefSeq, Apr 2009]. ##Evidence-Data-START## Transcript exon combination :: AK039049.1, BB632867.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849387, SAMN00849388 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Belongs to the globin family. oxygen transporter activity hemoglobin complex oxygen transport oxygen binding heme binding haptoglobin-hemoglobin complex hydrogen peroxide catabolic process organic acid binding metal ion binding cellular oxidant detoxification peroxidase activity haptoglobin binding uc007ijn.1 uc007ijn.2 
ENSMUST00000020537.9 Nsg2 ENSMUST00000020537.9 neuron specific gene family member 2, transcript variant 1 (from RefSeq NM_008741.4) ENSMUST00000020537.1 ENSMUST00000020537.2 ENSMUST00000020537.3 ENSMUST00000020537.4 ENSMUST00000020537.5 ENSMUST00000020537.6 ENSMUST00000020537.7 ENSMUST00000020537.8 NM_008741 Nsg2 Q5SS02 Q5SS02_MOUSE uc007iiw.1 uc007iiw.2 uc007iiw.3 uc007iiw.4 Belongs to the NSG family. endosome early endosome late endosome Golgi apparatus dopamine receptor signaling pathway membrane integral component of membrane dendrite clathrin light chain binding trans-Golgi network membrane lysosomal lumen clathrin coat assembly uc007iiw.1 uc007iiw.2 uc007iiw.3 uc007iiw.4 
ENSMUST00000020546.3 Stc2 ENSMUST00000020546.3 stanniocalcin 2 (from RefSeq NM_011491.3) ENSMUST00000020546.1 ENSMUST00000020546.2 NM_011491 Q5SS12 Q5SS12_MOUSE Stc2 uc007iik.1 uc007iik.2 uc007iik.3 Has an anti-hypocalcemic action on calcium and phosphate homeostasis. Homodimer; disulfide-linked. Secreted Belongs to the stanniocalcin family. hormone activity extracellular region endoplasmic reticulum cellular calcium ion homeostasis signal transduction embryo implantation negative regulation of gene expression enzyme binding heme binding response to vitamin D protein homodimerization activity response to peptide hormone decidualization regulation of hormone biosynthetic process perinuclear region of cytoplasm cellular response to hypoxia uc007iik.1 uc007iik.2 uc007iik.3 
ENSMUST00000020547.10 Vmn2r81 ENSMUST00000020547.10 vomeronasal 2, receptor 81 (from RefSeq NM_175936.2) AJ543404 EC1-V2R ENSMUST00000020547.1 ENSMUST00000020547.2 ENSMUST00000020547.3 ENSMUST00000020547.4 ENSMUST00000020547.5 ENSMUST00000020547.6 ENSMUST00000020547.7 ENSMUST00000020547.8 ENSMUST00000020547.9 NM_175936 Q80Z09 Q80Z09_MOUSE Vmn2r81 uc007fyp.1 uc007fyp.2 uc007fyp.3 Cell membrane ; Multi-pass membrane protein Membrane ; Multi-pass membrane protein G-protein coupled receptor activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway membrane integral component of membrane neuron differentiation G-protein coupled olfactory receptor activity signaling receptor activity detection of chemical stimulus involved in sensory perception of smell positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway uc007fyp.1 uc007fyp.2 uc007fyp.3 
ENSMUST00000020549.4 Gzmm ENSMUST00000020549.4 granzyme M (lymphocyte met-ase 1), transcript variant 4 (from RefSeq NR_126325.1) ENSMUST00000020549.1 ENSMUST00000020549.2 ENSMUST00000020549.3 Gzmm LMet-1 MMET-1 NR_126325 O08643 O08643_MOUSE uc007fzj.1 uc007fzj.2 uc007fzj.3 The protein encoded by this gene is a member of a family of cytotoxic lymphocyte serine proteases called granzymes, which are expressed by cytotoxic T lymphocytes and natural killer cells. This protein belongs to a subfamily of granzymes that cleave after methionine residues. Natural killer cell development, homeostasis and cytotoxicity are normal in mice deficient for this gene, but they demonstrate increased susceptibility to murine cytomegalovirus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. T cell mediated cytotoxicity endopeptidase activity serine-type endopeptidase activity protein binding proteolysis cell death peptidase activity serine-type peptidase activity hydrolase activity uc007fzj.1 uc007fzj.2 uc007fzj.3 
ENSMUST00000020550.13 Cdc34 ENSMUST00000020550.13 cell division cycle 34, transcript variant 1 (from RefSeq NM_177613.2) ENSMUST00000020550.1 ENSMUST00000020550.10 ENSMUST00000020550.11 ENSMUST00000020550.12 ENSMUST00000020550.2 ENSMUST00000020550.3 ENSMUST00000020550.4 ENSMUST00000020550.5 ENSMUST00000020550.6 ENSMUST00000020550.7 ENSMUST00000020550.8 ENSMUST00000020550.9 NM_177613 Q505K8 Q8CFI2 UB2R1_MOUSE Ubch3 Ube2r1 uc007fzi.1 uc007fzi.2 Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro catalyzes 'Lys-48'- linked polyubiquitination. Cooperates with the E2 UBCH5C and the SCF(FBXW11) E3 ligase complex for the polyubiquitination of NFKBIA leading to its subsequent proteasomal degradation. Performs ubiquitin chain elongation building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin. UBE2D3 acts as an initiator E2, priming the phosphorylated NFKBIA target at positions 'Lys-21' and/or 'Lys-22' with a monoubiquitin. Cooperates with the SCF(SKP2) E3 ligase complex to regulate cell proliferation through ubiquitination and degradation of MYBL2 and KIP1. Involved in ubiquitin conjugation and degradation of CREM isoform ICERIIgamma and ATF15 resulting in abrogation of ICERIIgamma- and ATF5-mediated repression of cAMP-induced transcription during both meiotic and mitotic cell cycles. Involved in the regulation of the cell cycle G2/M phase through its targeting of the WEE1 kinase for ubiquitination and degradation. Also involved in the degradation of beta-catenin. Reaction=S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin- activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin- conjugating enzyme]-L-cysteine.; EC=2.3.2.23; Evidence= Reaction=S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E1 ubiquitin-activating enzyme]-L- cysteine + N(6)-monoubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.24; Evidence=; CDC34-catalyzed polyubiquitin chain assembly activity is stimulated by the conjugation of NEDD8 to the CUL1 SCF E3 ligase complex subunit. Protein modification; protein ubiquitination. Interacts with SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex. Identified in a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex together with HINT1 and RBX1. When cullin is neddylated, the interaction between the E2 and the SCF complex is strengthened (By similarity). When phosphorylated, interacts with beta- TrCP (BTRC) (By similarity). Interacts with casein kinase subunit CSNK2B. Interacts with CNTD1; this interaction regulates the cell-cycle progression (PubMed:32640224). Cytoplasm Nucleus Note=The phosphorylation of the C- terminal tail plays an important role in mediating nuclear localization. Colocalizes with beta-tubulin on mitotic spindles in anaphase. The C-terminal acidic tail is required for nuclear localization and is involved in the binding to SCF E3 ligase complexes, and more specifically with the CUL1 subunit. Phosphorylated by CK2. Phosphorylation of the C-terminal tail by CK2 controls the nuclear localization. Belongs to the ubiquitin-conjugating enzyme family. nucleotide binding protein polyubiquitination ubiquitin-protein transferase activity ATP binding nucleus cytoplasm cytosol protein monoubiquitination cell cycle protein ubiquitination nuclear speck transferase activity cellular response to interferon-beta proteasome-mediated ubiquitin-dependent protein catabolic process positive regulation of neuron apoptotic process negative regulation of cAMP-mediated signaling ubiquitin conjugating enzyme activity protein K48-linked ubiquitination positive regulation of inclusion body assembly uc007fzi.1 uc007fzi.2 
ENSMUST00000020551.13 Asb3 ENSMUST00000020551.13 ankyrin repeat and SOCS box-containing 3 (from RefSeq NM_023906.3) ASB3_MOUSE ENSMUST00000020551.1 ENSMUST00000020551.10 ENSMUST00000020551.11 ENSMUST00000020551.12 ENSMUST00000020551.2 ENSMUST00000020551.3 ENSMUST00000020551.4 ENSMUST00000020551.5 ENSMUST00000020551.6 ENSMUST00000020551.7 ENSMUST00000020551.8 ENSMUST00000020551.9 NM_023906 Q5SSV5 Q9WV72 uc007iif.1 uc007iif.2 uc007iif.3 Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes TNFRSF1B (By similarity). Protein modification; protein ubiquitination. Interacts with ELOB and TNFRSF1B. Widely expressed; highest expression in testis and spleen. The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes. Belongs to the ankyrin SOCS box (ASB) family. biological_process protein ubiquitination intracellular signal transduction uc007iif.1 uc007iif.2 uc007iif.3 
ENSMUST00000020554.8 Madcam1 ENSMUST00000020554.8 mucosal vascular addressin cell adhesion molecule 1, transcript variant 1 (from RefSeq NM_013591.3) ENSMUST00000020554.1 ENSMUST00000020554.2 ENSMUST00000020554.3 ENSMUST00000020554.4 ENSMUST00000020554.5 ENSMUST00000020554.6 ENSMUST00000020554.7 G5E838 G5E838_MOUSE Madcam1 NM_013591 uc007fzf.1 uc007fzf.2 uc007fzf.3 positive regulation of leukocyte migration cell adhesion cell-matrix adhesion integrin-mediated signaling pathway aging membrane integral component of membrane integrin binding involved in cell-matrix adhesion positive regulation of lymphocyte migration uc007fzf.1 uc007fzf.2 uc007fzf.3 
ENSMUST00000020564.7 Shc2 ENSMUST00000020564.7 SHC (Src homology 2 domain containing) transforming protein 2 (from RefSeq NM_001024539.1) ENSMUST00000020564.1 ENSMUST00000020564.2 ENSMUST00000020564.3 ENSMUST00000020564.4 ENSMUST00000020564.5 ENSMUST00000020564.6 NM_001024539 Q8BMC3 SHC2_MOUSE Sck ShcB uc007fzd.1 uc007fzd.2 uc007fzd.3 uc007fzd.4 uc007fzd.5 Signaling adapter that couples activated growth factor receptors to signaling pathway in neurons. Involved in the signal transduction pathways of neurotrophin-activated Trk receptors in cortical neurons. Interacts with the Trk receptors in a phosphotyrosine- dependent manner and MEGF12. Once activated, binds to GRB2 (By similarity). Expressed in brain. Expressed at high level in the hypothalamus and at low level in the caudate nucleus. The PID domain mediates binding to the TrkA receptor. Phosphorylated on tyrosine by the Trk receptors. activation of MAPK activity plasma membrane protein kinase binding receptor tyrosine kinase binding intracellular signal transduction uc007fzd.1 uc007fzd.2 uc007fzd.3 uc007fzd.4 uc007fzd.5 
ENSMUST00000020566.7 Spmap2 ENSMUST00000020566.7 sperm microtubule associated protein 2, transcript variant 1 (from RefSeq NM_011583.3) ENSMUST00000020566.1 ENSMUST00000020566.2 ENSMUST00000020566.3 ENSMUST00000020566.4 ENSMUST00000020566.5 ENSMUST00000020566.6 NM_011583 Q6P8H9 Q9JMB1 Q9QZ27 SPMA2_MOUSE Spmap2 Theg uc007fyz.1 uc007fyz.2 uc007fyz.3 May be involved (but not essential) in spermatogenesis. Interacts with CCT5. Q9JMB1; P80316: Cct5; NbExp=2; IntAct=EBI-1390549, EBI-772379; Nucleus te=Localized predominantly in the nucleus of haploid round spermatid. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Theg major, Theg 1a; IsoId=Q9JMB1-1; Sequence=Displayed; Name=2; Synonyms=Theg minor, Theg 1b; IsoId=Q9JMB1-2; Sequence=VSP_028447; Testis specific (at protein level). Specifically expressed in spermatids; Sertoli cells maintain the level of expression in spermatids. If isolated spermatids are cultivated for 16 hours alone, the expression of THEG is down-regulated. May require signals from Sertoli cells to initiate changes in its gene expression through spermatogenesis. Expression in testis detected after stage P20, when haploid germ cells appeared in testis. According to PubMed:10747865, mice lacking Theg (mutant kisimo) have virtually no spermatozoa in the lumina of seminiferous and epididymal tubules. Spermatids in the vicinity of the lumina of seminiferous tubules showed vacuolation and were occasionally phagocytosed by Sertoli cells. Elongated spermatids have abnormal or completely nonexistent flagella. No difference is seen between wild type and null mutants in the number of spermatogonia or spermatocytes. According to PubMed:12748127 null mutants appear phenotypically normal and were fertile. However, a minor but significant reduction in testes weight was observed. Morphological appearance of sperm was normal. 'Kisimo' is a Japanese word for goddess of easy delivery. protein binding nucleus cytoplasm multicellular organism development spermatogenesis cell differentiation uc007fyz.1 uc007fyz.2 uc007fyz.3 
ENSMUST00000020568.10 Wdpcp ENSMUST00000020568.10 WD repeat containing planar cell polarity effector, transcript variant 1 (from RefSeq NM_145425.3) ENSMUST00000020568.1 ENSMUST00000020568.2 ENSMUST00000020568.3 ENSMUST00000020568.4 ENSMUST00000020568.5 ENSMUST00000020568.6 ENSMUST00000020568.7 ENSMUST00000020568.8 ENSMUST00000020568.9 FRITZ_MOUSE NM_145425 Q8BRR5 Q8C456 Q91ZJ2 uc007idx.1 uc007idx.2 uc007idx.3 Probable effector of the planar cell polarity signaling pathway which regulates the septin cytoskeleton in both ciliogenesis and collective cell movements. Together with FUZ and WDPCP proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (PubMed:27158779). Interacts with CPLANE1. Interacts with INTU and FUZ; FUZ, INTU and WDPCP probably form the core CPLANE (ciliogenesis and planar polarity effectors) complex. Cell membrane Cytoplasm, cytoskeleton, cilium axoneme Cytoplasm, cytoskeleton, cilium basal body Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8C456-1; Sequence=Displayed; Name=2; IsoId=Q8C456-2; Sequence=VSP_032411; Y-shaped metacarpals and defects in palate and tongue morphology characteristic for a PFD syndrome phenotype. Belongs to the WD repeat fritz family. kidney development auditory receptor cell morphogenesis protein binding cytoplasm cytoskeleton plasma membrane cilium axoneme smoothened signaling pathway nervous system development regulation of fibroblast migration membrane regulation of embryonic cell shape cell projection organization septin cytoskeleton organization regulation of protein localization embryonic digit morphogenesis cell projection camera-type eye development cilium organization establishment of protein localization embryonic organ development regulation of focal adhesion assembly digestive system development palate development cilium assembly respiratory system development cardiovascular system development glomerular visceral epithelial cell migration axonemal basal plate regulation of ruffle assembly regulation of establishment of cell polarity cell cortex apical plasma membrane uc007idx.1 uc007idx.2 uc007idx.3 
ENSMUST00000020575.5 Fstl3 ENSMUST00000020575.5 follistatin-like 3 (from RefSeq NM_031380.2) ENSMUST00000020575.1 ENSMUST00000020575.2 ENSMUST00000020575.3 ENSMUST00000020575.4 FSTL3_MOUSE Flrg NM_031380 Q9EQC7 uc007fzs.1 uc007fzs.2 uc007fzs.3 uc007fzs.4 The secreted form is a binding and antagonizing protein for members of the TGF-beta family, such us activin, BMP2 and MSTN. Inhibits activin A-, activin B-, BMP2- and MSDT-induced cellular signaling; more effective on activin A than on activin B. Involved in bone formation; inhibits osteoclast differentiation. Involved in hematopoiesis; involved in differentiation of hemopoietic progenitor cells, increases hematopoietic cell adhesion to fibronectin and seems to contribute to the adhesion of hematopoietic precursor cells to the bone marrow stroma. The nuclear form is probably involved in transcriptional regulation via interaction with MLLT10 (By similarity). Interacts with INHBA and INHBB. Interacts with FN1. Interacts with ADAM12. Interacts with MLLT10; the interaction enhances MLLT10 in vitro transcriptional activity and self-association. Interacts with MSTN (By similarity). Secreted Nucleus Abundantly expressed in heart, lung, kidney and testis. Continuously expressed in embryonic heart. ossification kidney development fibronectin binding hematopoietic progenitor cell differentiation extracellular region extracellular space nucleus nucleoplasm Golgi apparatus regulation of transcription from RNA polymerase II promoter multicellular organism development spermatogenesis male gonad development positive regulation of cell-cell adhesion secretory granule cell differentiation lung development adrenal gland development regulation of BMP signaling pathway negative regulation of BMP signaling pathway negative regulation of activin receptor signaling pathway neuron projection terminus negative regulation of osteoclast differentiation positive regulation of transcription from RNA polymerase II promoter activin binding cellular response to metal ion negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway uc007fzs.1 uc007fzs.2 uc007fzs.3 uc007fzs.4 
ENSMUST00000020576.8 Ccng1 ENSMUST00000020576.8 cyclin G1, transcript variant 2 (from RefSeq NR_184448.1) Ccng1 ENSMUST00000020576.1 ENSMUST00000020576.2 ENSMUST00000020576.3 ENSMUST00000020576.4 ENSMUST00000020576.5 ENSMUST00000020576.6 ENSMUST00000020576.7 NR_184448 Q5NC86 Q5NC86_MOUSE uc007ilz.1 uc007ilz.2 uc007ilz.3 May play a role in growth regulation. Is associated with G2/M phase arrest in response to DNA damage. May be an intermediate by which p53 mediates its role as an inhibitor of cellular proliferation. Nucleus Belongs to the cyclin family. Cyclin G subfamily. regulation of cell cycle uc007ilz.1 uc007ilz.2 uc007ilz.3 
ENSMUST00000020578.11 Nudcd2 ENSMUST00000020578.11 NudC domain containing 2, transcript variant 1 (from RefSeq NM_026023.6) D11Ertd603e ENSMUST00000020578.1 ENSMUST00000020578.10 ENSMUST00000020578.2 ENSMUST00000020578.3 ENSMUST00000020578.4 ENSMUST00000020578.5 ENSMUST00000020578.6 ENSMUST00000020578.7 ENSMUST00000020578.8 ENSMUST00000020578.9 NM_026023 NUDC2_MOUSE Q8CD03 Q9CQ48 Q9CY63 Q9D0V4 uc007ily.1 uc007ily.2 uc007ily.3 uc007ily.4 uc007ily.5 May regulate the LIS1/dynein pathway by stabilizing LIS1 with Hsp90 chaperone. Interacts with LIS1. Chromosome, centromere, kinetochore Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle pole Note=Associates with centrosomes in interphase and to spindle poles and kinetochores during mitosis. chromosome, centromeric region kinetochore condensed chromosome kinetochore spindle pole chromosome cytoplasm microtubule organizing center cytoskeleton protein folding developmental process unfolded protein binding uc007ily.1 uc007ily.2 uc007ily.3 uc007ily.4 uc007ily.5 
ENSMUST00000020579.9 Hmmr ENSMUST00000020579.9 hyaluronan mediated motility receptor (RHAMM) (from RefSeq NM_013552.2) ENSMUST00000020579.1 ENSMUST00000020579.2 ENSMUST00000020579.3 ENSMUST00000020579.4 ENSMUST00000020579.5 ENSMUST00000020579.6 ENSMUST00000020579.7 ENSMUST00000020579.8 HMMR_MOUSE Ihabp NM_013552 Q00547 Q5NC88 Rhamm uc007ilt.1 uc007ilt.2 uc007ilt.3 uc007ilt.4 Receptor for hyaluronic acid (HA) (PubMed:1376732). Involved in cell motility (PubMed:1376732). When hyaluronan binds to HMMR, the phosphorylation of a number of proteins, including the PTK2/FAK1 occurs. May also be involved in cellular transformation and metastasis formation, and in regulating extracellular-regulated kinase (ERK) activity. May act as a regulator of adipogenesis (PubMed:22666460). Interacts with ANKRD26 (By similarity). Interacts with DYNLL1 (By similarity). Interacts with FAM83D/CHICA (By similarity). Cell surface toplasm toplasm, cytoskeleton, spindle Event=Alternative splicing; Named isoforms=2; Name=RHAMM1V4; IsoId=Q00547-1; Sequence=Displayed; Name=RHAMM1; IsoId=Q00547-2; Sequence=VSP_004287; Ubiquitously expressed. hyaluronic acid binding cytoplasm centrosome cytosol cell surface microtubule cytoskeleton uc007ilt.1 uc007ilt.2 uc007ilt.3 uc007ilt.4 
ENSMUST00000020580.13 Polrmt ENSMUST00000020580.13 polymerase (RNA) mitochondrial (DNA directed), transcript variant 10 (from RefSeq NR_176423.1) ENSMUST00000020580.1 ENSMUST00000020580.10 ENSMUST00000020580.11 ENSMUST00000020580.12 ENSMUST00000020580.2 ENSMUST00000020580.3 ENSMUST00000020580.4 ENSMUST00000020580.5 ENSMUST00000020580.6 ENSMUST00000020580.7 ENSMUST00000020580.8 ENSMUST00000020580.9 NR_176423 Polrmt Q8BJE0 Q8BKF1 RPOM_MOUSE uc007fzo.1 uc007fzo.2 uc007fzo.3 uc007fzo.4 DNA-dependent RNA polymerase catalyzes the transcription of mitochondrial DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA. In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand. Has DNA primase activity. Catalyzes the synthesis of short RNA primers that are necessary for the initiation of lagging- strand DNA synthesis from the origin of light-strand DNA replication (OriL). Reaction=a ribonucleoside 5'-triphosphate + RNA(n) = diphosphate + RNA(n+1); Xref=Rhea:RHEA:21248, Rhea:RHEA-COMP:14527, Rhea:RHEA- COMP:17342, ChEBI:CHEBI:33019, ChEBI:CHEBI:61557, ChEBI:CHEBI:140395; EC=2.7.7.6; Evidence= Homodimer. Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT. In this complex TFAM recruits POLRMT to the promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (By similarity). Upon metabolic stress, forms a complex composed of FOXO3, SIRT3 and mitochondrial RNA polymerase POLRMT; the complex is recruited to mtDNA in a SIRT3- dependent manner (PubMed:23283301). Also forms a complex composed of FOXO3, SIRT3, TFAM and POLRMT. Interacts with TFB1M and TFB2M, leading to the stimulation of transcription. Interacts with TEFM. Interacts with MTRES1 (By similarity). Mitochondrion Belongs to the phage and mitochondrial RNA polymerase family. mitochondrial RNA polymerase regulatory region DNA binding DNA binding DNA-directed 5'-3' RNA polymerase activity protein binding mitochondrion mitochondrial matrix transcription, DNA-templated transcription from mitochondrial promoter transferase activity nucleotidyltransferase activity macromolecular complex mitochondrial DNA-directed RNA polymerase complex mitochondrial nucleoid sequence-specific DNA binding uc007fzo.1 uc007fzo.2 uc007fzo.3 uc007fzo.4 
ENSMUST00000020586.7 Slc22a4 ENSMUST00000020586.7 solute carrier family 22 (organic cation transporter), member 4, transcript variant 1 (from RefSeq NM_019687.4) ENSMUST00000020586.1 ENSMUST00000020586.2 ENSMUST00000020586.3 ENSMUST00000020586.4 ENSMUST00000020586.5 ENSMUST00000020586.6 NM_019687 Octn1 Q9Z306 S22A4_MOUSE Slc22a4 uc007ixe.1 uc007ixe.2 uc007ixe.3 Transporter that mediates the transport of endogenous and microbial zwitterions and organic cations (PubMed:11010964, PubMed:20601551, PubMed:20224991). Functions as a Na(+)-dependent and pH-dependent high affinity microbial symporter of potent food-derived antioxidant ergothioeine (By similarity). Transports one sodium ion with one ergothioeine molecule (By similarity). Involved in the absorption of ergothioneine from the luminal/apical side of the small intestine and renal tubular cells, and into non-parenchymal liver cells, thereby contributing to maintain steady-state ergothioneine level in the body (PubMed:20601551, PubMed:20224991). Also mediates the bidirectional transport of acetycholine, although the exact transport mechanism has not been fully identified yet (By similarity). Most likely exports anti-inflammatory acetylcholine in non-neuronal tissues, thereby contributing to the non-neuronal cholinergic system (By similarity). Displays a general physiological role linked to better survival by controlling inflammation and oxidative stress, which may be related to ergothioneine and acetycholine transports (PubMed:20224991). May also function as a low-affinity Na(+)-dependent transporter of L- carnitine through the mitochondrial membrane, thereby maintaining intracellular carnitine homeostasis (PubMed:11010964, PubMed:16729965). May contribute to regulate the transport of cationic compounds in testis across the blood-testis-barrier (By similarity). Reaction=ergothioneine(out) + Na(+)(out) = ergothioneine(in) + Na(+)(in); Xref=Rhea:RHEA:75843, ChEBI:CHEBI:29101, ChEBI:CHEBI:134344; Evidence= Reaction=acetylcholine(in) = acetylcholine(out); Xref=Rhea:RHEA:74663, ChEBI:CHEBI:15355; Evidence=; Reaction=(R)-carnitine(out) + Na(+)(out) = (R)-carnitine(in) + Na(+)(in); Xref=Rhea:RHEA:72091, ChEBI:CHEBI:16347, ChEBI:CHEBI:29101; Evidence=; Reaction=glycine betaine(out) + Na(+)(out) = glycine betaine(in) + Na(+)(in); Xref=Rhea:RHEA:72115, ChEBI:CHEBI:17750, ChEBI:CHEBI:29101; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:72116; Evidence=; Allosterically activated by intracellular ATP. Kinetic parameters: KM=4.68 uM for ergothioneine (at pH 7.4) ; Vmax=531 pmol/min/mg enzyme for ergothioneine uptake (at pH 7.4) ; Interacts with PDZK1. Apical cell membrane ; Multi-pass membrane protein Mitochondrion membrane ; Multi-pass membrane protein Basal cell membrane ; Multi-pass membrane protein Note=Localized to the apical membrane of small intestines (PubMed:20601551). Localized to the apical membrane of cortical proximal tubular epithelial cells in kidney (PubMed:15832501). Expressed in kidney (PubMed:11010964, PubMed:15832501). Expressed in small intestines (PubMed:20601551). Expressed in liver in non-parenchymal liver tissue such as sinusoidal vessels (PubMed:11010964, PubMed:20601551). Weakly expressed in lung and brain (PubMed:11010964). Expressed in testis and spleen (PubMed:11010964). Expressed in heart (PubMed:16729965). Knockout mice developed normally and did not display any gross phenotypic abnormalities. Knockout mice show a complete deficiency of ergothioneine in heart, liver, small intestine, kidney and erythrocytes. Impaired intestinal absorption and renal reabsorption of ergothioneine (PubMed:20224991, PubMed:20601551). Lower tolerance to intestinal oxidative stress (PubMed:20224991). Mediates the Na(+)-independent and pH-dependent bidirectional transport of exogenous prototype organic cation tetraethylammonium (TEA). Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family. It is unclear whether it transports carnitine in vivo. nucleotide binding ATP binding mitochondrion triglyceride metabolic process ion transport sodium ion transport carnitine metabolic process organic cation transmembrane transporter activity carnitine transmembrane transporter activity symporter activity cation:cation antiporter activity quaternary ammonium group transmembrane transporter activity quaternary ammonium group transport carnitine transport membrane integral component of membrane apical plasma membrane transmembrane transporter activity PDZ domain binding transmembrane transport cation transmembrane transport carnitine transmembrane transport uc007ixe.1 uc007ixe.2 uc007ixe.3 
ENSMUST00000020608.3 Ppp2ca ENSMUST00000020608.3 protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform (from RefSeq NM_019411.4) ENSMUST00000020608.1 ENSMUST00000020608.2 NM_019411 O88591 P13353 P63330 PP2AA_MOUSE Q5SNY5 uc007ivb.1 uc007ivb.2 uc007ivb.3 PP2A is the major phosphatase for microtubule-associated proteins (MAPs) (By similarity). PP2A can modulate the activity of phosphorylase B kinase casein kinase 2, mitogen-stimulated S6 kinase, and MAP-2 kinase (By similarity). Cooperates with SGO2 to protect centromeric cohesin from separase-mediated cleavage in oocytes specifically during meiosis I (PubMed:18084284). Can dephosphorylate p53/TP53 (By similarity). Activates RAF1 by dephosphorylating it at 'Ser-259' (By similarity). Mediates dephosphorylation of WEE1, preventing its ubiquitin-mediated proteolysis, increasing WEE1 protein levels, and promoting the G2/M checkpoint (By similarity). Mediates dephosphorylation of MYC; promoting its ubiquitin-mediated proteolysis: interaction with AMBRA1 enhances interaction between PPP2CA and MYC (PubMed:25438055). Mediates dephosphorylation of FOXO3; promoting its stabilization: interaction with AMBRA1 enhances interaction between PPP2CA and FOXO3 (By similarity). Catalyzes dephosphorylation of the pyrin domain of NLRP3, promoting assembly of the NLRP3 inflammasome (PubMed:28465465). Together with RACK1 adapter, mediates dephosphorylation of AKT1 at 'Ser-473', preventing AKT1 activation and AKT-mTOR signaling pathway (PubMed:26974206, PubMed:33505023). Dephosphorylation of AKT1 is essential for regulatory T-cells (Treg) homeostasis and stability (PubMed:33505023). Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:20630; Evidence=; Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA- COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47005; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 manganese ions per subunit. ; PP2A consists of a common heterodimeric core enzyme, composed of PPP2CA a 36 kDa catalytic subunit (subunit C) and PPP2R1A a 65 kDa constant regulatory subunit (PR65 or subunit A), that associates with a variety of regulatory subunitst (By similarity). Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell signaling molecules (By similarity). Interacts with NXN; the interaction is direct (By similarity). Interacts with KCTD20 (PubMed:24156551). Interacts with BTBD10 (PubMed:18160256). Interacts with SGO1 and SGO2 (By similarity). Interacts with TP53 (By similarity). Interacts with AXIN1; the interaction dephosphorylates AXIN1 (By similarity). Interacts with PIM3; this interaction promotes dephosphorylation, ubiquitination and proteasomal degradation of PIM3 (By similarity). Interacts with RAF1 (By similarity). Interaction with IGBP1 protects unassembled PPP2CA from degradative ubiquitination (By similarity). Interacts with GSK3B (via C2 domain) (By similarity). Interacts with MFHAS1; retains PPP2CA into the cytoplasm and excludes it from the nucleus (By similarity). Interacts with PABIR1/FAM122A (By similarity). Interacts with ADCY8; interaction is phosphatase activity- dependent; antagonizes interaction between ADCY8 and calmodulin (PubMed:16258073). Interacts with CRTC3 (when phosphorylated at 'Ser- 391') (PubMed:30611118). Interacts with SPRY2; the interaction is inhibited by TESK1 interaction with SPRY2, possibly by vesicular sequestration of SPRY2 (By similarity). Interacts with TRAF3IP3 (By similarity). Interacts with AMBRA1 (via PxP motifs); enhancing interaction between PPP2CA and MYC or FOXO3 (PubMed:25438055). Forms a complex with AMBRA1 and BECN1; AMBRA1 and BECN1 components of the complex regulate MYC stability via different pathways (By similarity). P63330; Q61249: Igbp1; NbExp=2; IntAct=EBI-397144, EBI-7002233; P63330; Q76MZ3: Ppp2r1a; NbExp=3; IntAct=EBI-397144, EBI-400413; Cytoplasm Nucleus Chromosome, centromere Cytoplasm, cytoskeleton, spindle pole Note=In prometaphase cells, but not in anaphase cells, localizes at centromeres (By similarity). During mitosis, also found at spindle poles (By similarity). Centromeric localization requires the presence of SGO2 (PubMed:18084284). Reversibly methyl esterified on Leu-309 by leucine carboxyl methyltransferase 1 (Lcmt1) and protein phosphatase methylesterase 1 (Ppme1). Carboxyl methylation influences the affinity of the catalytic subunit for the different regulatory subunits, thereby modulating the PP2A holoenzyme's substrate specificity, enzyme activity and cellular localization. Phosphorylation of either threonine (by autophosphorylation- activated protein kinase) or tyrosine results in inactivation of the phosphatase. Auto-dephosphorylation has been suggested as a mechanism for reactivation. Polyubiquitinated, leading to its degradation by the proteasome (By similarity). May be monoubiquitinated by NOSIP (PubMed:25546391). Double mutation Phe-307 and Gln-309 results in association of the PP2A C subunit with alpha-4 protein. Belongs to the PPP phosphatase family. PP-1 subfamily. negative regulation of transcription from RNA polymerase II promoter protein phosphatase type 2A complex chromosome, centromeric region spindle pole regulation of protein phosphorylation negative regulation of protein phosphorylation phosphoprotein phosphatase activity protein serine/threonine phosphatase activity protein binding nucleus chromosome cytoplasm cytosol cytoskeleton plasma membrane protein dephosphorylation mesoderm development protein C-terminus binding response to lead ion regulation of receptor activity negative regulation of epithelial to mesenchymal transition postsynaptic density hydrolase activity enzyme binding protein kinase binding protein phosphatase binding protein domain specific binding beta-2 adrenergic receptor binding regulation of protein autophosphorylation positive regulation of phosphoprotein phosphatase activity positive regulation of protein dephosphorylation peptidyl-threonine dephosphorylation regulation of protein catabolic process negative regulation of protein import into nucleus identical protein binding neuron projection positive regulation of apoptotic process terminal bouton positive regulation of cysteine-type endopeptidase activity involved in apoptotic process protein kinase B binding ion channel binding macromolecular complex binding membrane raft synapse metal ion binding protein heterodimerization activity tau protein binding GABA receptor binding meiotic cell cycle protein phosphatase 2A binding regulation of cell cycle cellular response to glucose stimulus positive regulation of protein serine/threonine kinase activity negative regulation of calcium ion transmembrane transporter activity positive regulation of microtubule binding protein antigen binding uc007ivb.1 uc007ivb.2 uc007ivb.3 
ENSMUST00000020617.3 Flt4 ENSMUST00000020617.3 FMS-like tyrosine kinase 4 (from RefSeq NM_008029.3) ENSMUST00000020617.1 ENSMUST00000020617.2 Flt4 NM_008029 Q5SU94 Q5SU94_MOUSE uc007iqu.1 uc007iqu.2 uc007iqu.3 uc007iqu.4 Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence=; Cell membrane ; Single-pass type I membrane protein Membrane ingle-pass type I membrane protein Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily. nucleotide binding positive regulation of protein phosphorylation positive regulation of endothelial cell proliferation lymphangiogenesis protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity vascular endothelial growth factor-activated receptor activity ATP binding nucleoplasm plasma membrane integral component of plasma membrane protein phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway positive regulation of cell proliferation positive regulation of vascular endothelial growth factor production positive regulation of endothelial cell migration membrane integral component of membrane kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation growth factor binding protein phosphatase binding cellular response to vascular endothelial growth factor stimulus VEGF-C-activated receptor activity vascular endothelial growth factor signaling pathway protein homodimerization activity negative regulation of apoptotic process receptor complex positive regulation of MAPK cascade positive regulation of JNK cascade protein autophosphorylation vascular endothelial growth factor receptor signaling pathway positive regulation of ERK1 and ERK2 cascade positive regulation of protein kinase C signaling uc007iqu.1 uc007iqu.2 uc007iqu.3 uc007iqu.4 
ENSMUST00000020629.5 Gfpt2 ENSMUST00000020629.5 glutamine fructose-6-phosphate transaminase 2 (from RefSeq NM_013529.3) ENSMUST00000020629.1 ENSMUST00000020629.2 ENSMUST00000020629.3 ENSMUST00000020629.4 GFPT2_MOUSE NM_013529 Q5NCL2 Q9Z2Z9 uc011xud.1 uc011xud.2 uc011xud.3 Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the availability of precursors for N- and O-linked glycosylation of proteins. Reaction=D-fructose 6-phosphate + L-glutamine = D-glucosamine 6- phosphate + L-glutamate; Xref=Rhea:RHEA:13237, ChEBI:CHEBI:29985, ChEBI:CHEBI:58359, ChEBI:CHEBI:58725, ChEBI:CHEBI:61527; EC=2.6.1.16; Evidence=; Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D- glucosamine biosynthesis; alpha-D-glucosamine 6-phosphate from D- fructose 6-phosphate: step 1/1. glutamine-fructose-6-phosphate transaminase (isomerizing) activity fructose 6-phosphate metabolic process UDP-N-acetylglucosamine metabolic process UDP-N-acetylglucosamine biosynthetic process protein N-linked glycosylation glutamine metabolic process transaminase activity transferase activity carbohydrate derivative binding carbohydrate derivative metabolic process carbohydrate derivative biosynthetic process cellular response to leukemia inhibitory factor uc011xud.1 uc011xud.2 uc011xud.3 
ENSMUST00000020630.8 Hspa4 ENSMUST00000020630.8 heat shock protein 4 (from RefSeq NM_008300.3) ENSMUST00000020630.1 ENSMUST00000020630.2 ENSMUST00000020630.3 ENSMUST00000020630.4 ENSMUST00000020630.5 ENSMUST00000020630.6 ENSMUST00000020630.7 Hspa4 NM_008300 Q3U2G2 Q3U2G2_MOUSE uc007ivq.1 uc007ivq.2 uc007ivq.3 Interacts with TJP1/ZO-1. Cytoplasm Belongs to the heat shock protein 70 family. nucleotide binding ATP binding cytosol protein import into mitochondrial outer membrane chaperone-mediated protein complex assembly extracellular exosome uc007ivq.1 uc007ivq.2 uc007ivq.3 
ENSMUST00000020634.14 Mapk9 ENSMUST00000020634.14 mitogen-activated protein kinase 9, transcript variant alpha2 (from RefSeq NM_207692.2) ENSMUST00000020634.1 ENSMUST00000020634.10 ENSMUST00000020634.11 ENSMUST00000020634.12 ENSMUST00000020634.13 ENSMUST00000020634.2 ENSMUST00000020634.3 ENSMUST00000020634.4 ENSMUST00000020634.5 ENSMUST00000020634.6 ENSMUST00000020634.7 ENSMUST00000020634.8 ENSMUST00000020634.9 Jnk2 MK09_MOUSE NM_207692 Prkm9 Q5NCK9 Q5NCL5 Q8C097 Q8VDD2 Q9WTU4 Q9WTU5 Q9WTU6 uc007irg.1 uc007irg.2 uc007irg.3 uc007irg.4 Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as pro- inflammatory cytokines or physical stress stimulate the stress- activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK9/JNK2. In turn, MAPK9/JNK2 phosphorylates a number of transcription factors, primarily components of AP-1 such as JUN and ATF2 and thus regulates AP-1 transcriptional activity. In response to oxidative or ribotoxic stresses, inhibits rRNA synthesis by phosphorylating and inactivating the RNA polymerase 1- specific transcription initiation factor RRN3. Promotes stressed cell apoptosis by phosphorylating key regulatory factors including TP53 and YAP1. In T-cells, MAPK8 and MAPK9 are required for polarized differentiation of T-helper cells into Th1 cells. Upon T-cell receptor (TCR) stimulation, is activated by CARMA1, BCL10, MAP2K7 and MAP3K7/TAK1 to regulate JUN protein levels. Plays an important role in the osmotic stress-induced epithelial tight-junctions disruption. When activated, promotes beta-catenin/CTNNB1 degradation and inhibits the canonical Wnt signaling pathway. Participates also in neurite growth in spiral ganglion neurons. Phosphorylates the CLOCK-BMAL1 heterodimer and plays a role in the regulation of the circadian clock (PubMed:22441692). Phosphorylates POU5F1, which results in the inhibition of POU5F1's transcriptional activity and enhances its proteasomal degradation (PubMed:29153991). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.24; Evidence= Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.24; Evidence= Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Activated by threonine and tyrosine phosphorylation by either of two dual specificity kinases, MAP2K4 and MAP2K7. MAP2K4 shows a strong preference for Tyr-185 while MAP2K7 phosphorylates Tyr-183 preferentially. Inhibited by dual specificity phosphatases, such as DUSP1. Interacts with MECOM (By similarity). Binds to at least four scaffolding proteins, MAPK8IP1/JIP-1, MAPK8IP2/JIP-2, MAPK8IP3/JIP- 3/JSAP1 and SPAG9/MAPK8IP4/JIP-4. These proteins also bind other components of the JNK signaling pathway (PubMed:11562351). Interacts with NFATC4 (By similarity). Interacts with ATF7; the interaction does not phosphorylate ATF7 but acts as a docking site for ATF7-associated partners such as JUN (By similarity). Interacts with BCL10 (By similarity). Interacts with CTNNB1 and GSK3B (By similarity). Interacts with DCLK2 (PubMed:16628014). Interacts with MAPKBP1 (By similarity). Interacts with POU5F1; phosphorylates POU5F1 at 'Ser-347' (PubMed:29153991). Found in a complex with SH3RF1, RAC2, MAP3K7/TAK1, MAP2K7/MKK7, MAPK8IP1/JIP1 and MAPK8/JNK1 (PubMed:27084103). Cytoplasm Nucleus Note=Colocalizes with POU5F1 in the nucleus. Event=Alternative splicing; Named isoforms=4; Name=Alpha-2; IsoId=Q9WTU6-1; Sequence=Displayed; Name=Alpha-1; IsoId=Q9WTU6-2; Sequence=VSP_004837; Name=Beta-1; IsoId=Q9WTU6-3; Sequence=VSP_004836, VSP_004837; Name=Beta-2; IsoId=Q9WTU6-4; Sequence=VSP_004836; All four isoforms are widely distributed in brain. Isoforms alpha-1 and alpha-2 are predominantly expressed in hippocampus, cerebral cortex, caudate-putamen, amygdala and the granule layer of the cerebellum. Alpha-1 is more abundant than alpha-2 in the periaqueductal region and the substantia nigra. In T-cells, following T-cell receptor (TCR) activation. Levels peak 48 hours after TCR and CD-28 costimulation. The TXY motif contains the threonine and tyrosine residues whose phosphorylation activates the MAP kinases. Dually phosphorylated on Thr-183 and Tyr-185 by MAP2K7 and MAP2K4, which activates the enzyme. Autophosphorylated in vitro. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. nucleotide binding release of cytochrome c from mitochondria positive regulation of protein phosphorylation protein kinase activity protein serine/threonine kinase activity JUN kinase activity MAP kinase activity protein serine/threonine/tyrosine kinase activity protein binding ATP binding nucleus cytoplasm mitochondrion cytosol protein phosphorylation activation of cysteine-type endopeptidase activity involved in apoptotic process JNK cascade JUN phosphorylation transcription factor binding cysteine-type endopeptidase activator activity involved in apoptotic process regulation of gene expression positive regulation of gene expression positive regulation of macrophage derived foam cell differentiation positive regulation of cell morphogenesis involved in differentiation kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation neuron projection development positive regulation of prostaglandin biosynthetic process regulation of protein ubiquitination positive regulation of protein ubiquitination mitogen-activated protein kinase kinase kinase binding positive regulation of prostaglandin secretion positive regulation of chemokine production cellular response to reactive oxygen species cellular response to UV intracellular signal transduction response to drug regulation of circadian rhythm neuron projection positive regulation of apoptotic process perikaryon positive regulation of cysteine-type endopeptidase activity involved in apoptotic process positive regulation of nitric oxide biosynthetic process positive regulation of transcription, DNA-templated regulation of JNK cascade response to cadmium ion rhythmic process positive regulation of nitric-oxide synthase biosynthetic process cellular response to cadmium ion positive regulation of podosome assembly positive regulation of transcription factor catabolic process positive regulation of apoptotic signaling pathway uc007irg.1 uc007irg.2 uc007irg.3 uc007irg.4 
ENSMUST00000020640.8 Rack1 ENSMUST00000020640.8 receptor for activated C kinase 1 (from RefSeq NM_008143.3) ENSMUST00000020640.1 ENSMUST00000020640.2 ENSMUST00000020640.3 ENSMUST00000020640.4 ENSMUST00000020640.5 ENSMUST00000020640.6 ENSMUST00000020640.7 Gnb2-rs1 Gnb2l1 NM_008143 P25388 P68040 P99049 Q3THP0 Q3THY7 Q3TKQ0 Q3TW88 Q5NCC5 Q5NCC6 Q9CSQ0 Q9ERM6 RACK1_MOUSE Rack1 uc007ipa.1 uc007ipa.2 uc007ipa.3 Scaffolding protein involved in the recruitment, assembly and/or regulation of a variety of signaling molecules (PubMed:7968370, PubMed:18258429, PubMed:20093473, PubMed:21262816, PubMed:33505023, PubMed:36517592). Interacts with a wide variety of proteins and plays a role in many cellular processes (PubMed:7968370, PubMed:18258429, PubMed:20093473, PubMed:21262816, PubMed:36517592). Component of the 40S ribosomal subunit involved in translational repression (PubMed:36517592). Involved in the initiation of the ribosome quality control (RQC), a pathway that takes place when a ribosome has stalled during translation, by promoting ubiquitination of a subset of 40S ribosomal subunits (By similarity). Binds to and stabilizes activated protein kinase C (PKC), increasing PKC-mediated phosphorylation (By similarity). May recruit activated PKC to the ribosome, leading to phosphorylation of EIF6 (By similarity). Inhibits the activity of SRC kinases including SRC, LCK and YES1 (By similarity). Inhibits cell growth by prolonging the G0/G1 phase of the cell cycle (By similarity). Enhances phosphorylation of BMAL1 by PRKCA and inhibits transcriptional activity of the BMAL1-CLOCK heterodimer (PubMed:20093473). Facilitates ligand-independent nuclear translocation of AR following PKC activation, represses AR transactivation activity and is required for phosphorylation of AR by SRC (By similarity). Modulates IGF1R-dependent integrin signaling and promotes cell spreading and contact with the extracellular matrix (By similarity). Involved in PKC-dependent translocation of ADAM12 to the cell membrane (By similarity). Promotes the ubiquitination and proteasome-mediated degradation of proteins such as CLEC1B and HIF1A (By similarity). Required for VANGL2 membrane localization, inhibits Wnt signaling, and regulates cellular polarization and oriented cell division during gastrulation (PubMed:21262816). Required for PTK2/FAK1 phosphorylation and dephosphorylation (By similarity). Regulates internalization of the muscarinic receptor CHRM2 (By similarity). Promotes apoptosis by increasing oligomerization of BAX and disrupting the interaction of BAX with the anti-apoptotic factor BCL2L (By similarity). Inhibits TRPM6 channel activity (PubMed:18258429). Regulates cell surface expression of some GPCRs such as TBXA2R (By similarity). Plays a role in regulation of FLT1-mediated cell migration (By similarity). Involved in the transport of ABCB4 from the Golgi to the apical bile canalicular membrane (By similarity). Acts as an adapter for the dephosphorylation and inactivation of AKT1 by promoting recruitment of PP2A phosphatase to AKT1 (PubMed:33505023). Monomer; also forms homodimers and homooligomers (By similarity). Interacts with CPNE3 (By similarity). May interact with ABCB4 (By similarity). Component of the small (40S) ribosomal subunit (PubMed:36517592). Interacts with LARP4B. Interacts with LARP4. Interacts with PKD2L1 (By similarity). Binds NHERF1 (By similarity). Forms a ternary complex with TRIM63 and PRKCE (By similarity). Interacts with HABP4, KRT1 and OTUB1 (By similarity). Interacts with SRC (via SH2 domain); the interaction is enhanced by tyrosine phosphorylation of RACK1 (By similarity). Recruited in a circadian manner into a nuclear complex which also includes BMAL1 and PRKCA (PubMed:20093473). Interacts with AR (By similarity). Interacts with IGF1R but not with INSR (By similarity). Interacts with ADAM12 (By similarity). Interacts with CLEC1B (via N-terminal region) and with HIF1A; the interaction promotes their degradation (By similarity). Interacts with RHOA; this enhances RHOA activation and promotes cell migration (By similarity). Interacts with CHRM2; the interaction regulates CHRM2 internalization (By similarity). Interacts with TRPM6 (via kinase domain) (PubMed:18258429). Interacts with PTK2/FAK1; required for PTK2/FAK1 phosphorylation and dephosphorylation (By similarity). Interacts with FLT1 (By similarity). Interacts with HRAS (By similarity). Interacts with SLC9A5; this interaction regulates SLC9A5 cell-surface targeting and SLC9A5 activity (By similarity). Interacts with SLC9A6; this interaction regulates the distribution of SLC9A6 between endosomes and the plasma membrane (By similarity). Interacts with AIM2; promoting association with PP2A phosphatase and dephosphorylation of AKT1 (PubMed:33505023). P68040; O88351: Ikbkb; NbExp=4; IntAct=EBI-296749, EBI-447960; Cell membrane ; Peripheral membrane protein Cytoplasm Cytoplasm, perinuclear region Nucleus Perikaryon Cell projection, dendrite Note=Recruited to the plasma membrane through interaction with KRT1 which binds to membrane-bound ITGB1. PKC activation induces translocation from the perinuclear region to the cell periphery (By similarity). In the brain, detected mainly in cell bodies and dendrites with little expression in axonal fibers or nuclei (PubMed:16414032). Strongly and ubiquitously expressed in the embryonic and early postnatal brain. At 11.5 dpc, expressed in a high- dorsal to low-ventral gradient throughout the brain. At 13.5 dpc, most abundant in the telecephalon. At 18.5 dpc, expressed most abundantly in layers 1-4 of the cortex, striatum, hippocampus, dentate gyrus, and specific thalamic nuclei. This expression decreases during postnatal development and is localized in the dentate gyrus, habenula, piriform cortex, paraventricular nucleus of the hypothalamus and supraoptic nucleus of the adult brain. Expressed throughout embryonic brain development with high levels detected at 11.5 dpc, 13.5 dpc and 18.5 dpc. Also detected at high levels in the adult brain. The 7 WD repeats mediate protein-protein interactions with binding partners. Phosphorylated on Tyr-228 and/or Tyr-246 by SRC. This is required for binding to SRC (By similarity). Belongs to the WD repeat G protein beta family. Ribosomal protein RACK1 subfamily. Sequence=AAG29506.1; Type=Frameshift; Evidence=; phagocytic cup positive regulation of protein phosphorylation protein kinase C binding protein binding nucleus nucleoplasm cytoplasm mitochondrion cytosol ribosome plasma membrane translation regulation of translation apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process cell cycle multicellular organism development gastrulation protein localization ion channel inhibitor activity cysteine-type endopeptidase activator activity involved in apoptotic process negative regulation of gene expression small ribosomal subunit membrane protein ubiquitination negative regulation of translation enzyme binding protein phosphatase binding cytosolic small ribosomal subunit negative regulation of Wnt signaling pathway protein tyrosine kinase inhibitor activity negative regulation of cell growth cyclin binding positive regulation of cell migration dendrite midbody receptor tyrosine kinase binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process positive regulation of protein homooligomerization regulation of protein localization negative regulation of peptidyl-serine phosphorylation intracellular signal transduction signaling adaptor activity signaling receptor activity regulation of growth SH2 domain binding protein homodimerization activity cell projection positive regulation of Golgi to plasma membrane protein transport neuron projection ribosome binding neuronal cell body positive regulation of apoptotic process perikaryon pigmentation positive regulation of GTPase activity cell body perinuclear region of cytoplasm rhythmic process negative regulation of phagocytosis regulation of cell division positive regulation of cyclic-nucleotide phosphodiesterase activity regulation of cell cycle negative regulation of protein kinase B signaling positive regulation of mitochondrial depolarization negative regulation of protein tyrosine kinase activity cellular response to glucose stimulus cellular response to growth factor stimulus rescue of stalled ribosome regulation of protein localization to plasma membrane negative regulation of hydrogen peroxide-induced neuron death IRE1-RACK1-PP2A complex regulation of establishment of cell polarity positive regulation of gastrulation positive regulation of intrinsic apoptotic signaling pathway uc007ipa.1 uc007ipa.2 uc007ipa.3 
ENSMUST00000020643.4 Rufy1 ENSMUST00000020643.4 RUN and FYVE domain containing 1 (from RefSeq NM_172557.3) ENSMUST00000020643.1 ENSMUST00000020643.2 ENSMUST00000020643.3 NM_172557 Q8BIJ7 Q8BKQ4 Q8BL21 Q9EPM6 RUFY1_MOUSE Rabip4 uc007isn.1 uc007isn.2 uc007isn.3 Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking. Interacts with BMX. May interact with SSB (By similarity). Interacts with RAB4 and RAB5 that have been activated by GTP-binding. Cytoplasm. Early endosome membrane; Peripheral membrane protein. Broadly expressed. The FYVE-type zinc finger domain mediates interactions with phosphatidylinositol 3-phosphate in membranes of early endosomes and penetrates bilayers. The FYVE domain insertion into PtdIns(3)P-enriched membranes is substantially increased in acidic conditions (By similarity). Phosphorylation on Tyr-393 and/or Tyr-404 is required for interaction with BMX and endosomal targeting. Sequence=CAC17732.1; Type=Erroneous initiation; Evidence=; protein binding nucleus cytoplasm endosome endocytosis small GTPase mediated signal transduction lipid binding protein transport membrane nuclear speck SH3 domain binding regulation of endocytosis early endosome membrane SH2 domain binding intracellular membrane-bounded organelle metal ion binding late endosome cytosol uc007isn.1 uc007isn.2 uc007isn.3 
ENSMUST00000020647.10 Mrnip ENSMUST00000020647.10 MRN complex interacting protein (from RefSeq NM_026543.3) ENSMUST00000020647.1 ENSMUST00000020647.2 ENSMUST00000020647.3 ENSMUST00000020647.4 ENSMUST00000020647.5 ENSMUST00000020647.6 ENSMUST00000020647.7 ENSMUST00000020647.8 ENSMUST00000020647.9 MRNIP_MOUSE Mrnip NM_026543 Q9CX85 Q9D1F5 uc007irv.1 uc007irv.2 uc007irv.3 uc007irv.4 Plays a role in the cellular response to DNA damage and the maintenance of genome stability through its association with the MRN damage-sensing complex. Promotes chromatin loading and activity of the MRN complex to facilitate subsequent ATM-mediated DNA damage response signaling and DNA repair. Associates with the MRE11-RAD50-NBN (MRN) damage-sensing complex; this association is constitutive. Interacts with MRE11. Interacts with NBN. Interacts with RAD50. Nucleus Nucleus, nucleoplasm Note=Recruited to sites of DNA damage. Phosphorylation induces its nuclear localization and promotes genome stability. Phosphorylated; phosphorylation is constitutive and occurs in the absence of any DNA-damaging stimulus. Phosphorylation is necessary for its nuclear retention. Belongs to the MRNIP family. molecular_function chromatin binding cellular_component nucleus nucleoplasm DNA repair cellular response to DNA damage stimulus mitotic G2 DNA damage checkpoint biological_process response to ionizing radiation Mre11 complex positive regulation of protein kinase activity protein localization to chromatin positive regulation of double-strand break repair via homologous recombination regulation of double-strand break repair via nonhomologous end joining uc007irv.1 uc007irv.2 uc007irv.3 uc007irv.4 
ENSMUST00000020649.14 Rad50 ENSMUST00000020649.14 RAD50 double strand break repair protein (from RefSeq NM_009012.2) ENSMUST00000020649.1 ENSMUST00000020649.10 ENSMUST00000020649.11 ENSMUST00000020649.12 ENSMUST00000020649.13 ENSMUST00000020649.2 ENSMUST00000020649.3 ENSMUST00000020649.4 ENSMUST00000020649.5 ENSMUST00000020649.6 ENSMUST00000020649.7 ENSMUST00000020649.8 ENSMUST00000020649.9 NM_009012 Q5SV02 Q5SV02_MOUSE Rad50 uc007iwt.1 uc007iwt.2 Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Chromosome, telomere Belongs to the SMC family. RAD50 subfamily. telomere maintenance nucleus DNA repair ATPase activity Mre11 complex metal ion binding uc007iwt.1 uc007iwt.2 
ENSMUST00000020650.2 Il13 ENSMUST00000020650.2 interleukin 13 (from RefSeq NM_008355.3) ENSMUST00000020650.1 IL13_MOUSE Il-13 NM_008355 P20109 uc007iwr.1 uc007iwr.2 uc007iwr.3 uc007iwr.4 Cytokine that plays important roles in allergic inflammation and immune response to parasite infection (PubMed:15361238). Synergizes with IL2 in regulating interferon-gamma synthesis. Stimulates B-cell proliferation, and activation of eosinophils, basophils, and mast cells (By similarity). Plays an important role in controlling IL33 activity by modulating the production of transmembrane and soluble forms of interleukin-1 receptor-like 1/IL1RL1 (PubMed:34789557). Displays the capacity to antagonize Th1-driven proinflammatory immune response and downregulates synthesis of many proinflammatory cytokines including IL1, IL6, IL10, IL12 and TNF-alpha through a mechanism that partially involves suppression of NF-kappa-B (By similarity). Functions also on nonhematopoietic cells, including endothelial cells where it induces vascular cell adhesion protein 1/VCAM1, which is important in the recruitment of eosinophils. Exerts its biological effects through its receptors which comprises the IL4R chain and the IL13RA1 chain, to activate JAK1 and TYK2, leading to the activation of STAT6 (PubMed:8871614, PubMed:34795444). Aside from IL13RA1, another receptor IL13RA2 acts as a high affinity decoy for IL13 and mediates internalization and depletion of extracellular IL13 (PubMed:29305434). Interacts with IL13RA2. P20109; O88786: Il13ra2; NbExp=4; IntAct=EBI-20559598, EBI-20260800; Secreted. Deletion mice have increased eosinophilic inflammation and splenomegaly (PubMed:29305434). In addition, mice show exacerbated effects of IL33 administration, including increased immune cell infiltration in the peritoneum with expanded eosinophil and ILC2 populations, and reduced circulating and peritoneal sST2 (PubMed:34789557). Belongs to the IL-4/IL-13 family. microglial cell activation positive regulation of immunoglobulin production cytokine activity cytokine receptor binding interleukin-13 receptor binding protein binding extracellular region extracellular space cytoplasm inflammatory response immune response signal transduction external side of plasma membrane regulation of proton transport positive regulation of gene expression positive regulation of B cell proliferation positive regulation of connective tissue growth factor production negative regulation of NAD(P)H oxidase activity response to nicotine positive regulation of tyrosine phosphorylation of STAT protein positive regulation of macrophage activation positive regulation of ion transport positive regulation of mast cell degranulation positive regulation of smooth muscle cell proliferation positive regulation of protein secretion positive regulation of release of sequestered calcium ion into cytosol cellular response to cytokine stimulus negative regulation of transforming growth factor beta production negative regulation of neuron death negative regulation of complement-dependent cytotoxicity positive regulation of pancreatic stellate cell proliferation negative regulation of endothelial cell apoptotic process uc007iwr.1 uc007iwr.2 uc007iwr.3 uc007iwr.4 
ENSMUST00000020653.6 Sar1b ENSMUST00000020653.6 secretion associated Ras related GTPase 1B (from RefSeq NM_025535.2) ENSMUST00000020653.1 ENSMUST00000020653.2 ENSMUST00000020653.3 ENSMUST00000020653.4 ENSMUST00000020653.5 NM_025535 Q3UBL6 Q9CQC9 SAR1B_MOUSE Sar1b Sara1b Sara2 uc007iup.1 uc007iup.2 uc007iup.3 uc007iup.4 GTP-binding protein involved in transport from the endoplasmic reticulum to the Golgi apparatus. Activated by the guanine nucleotide exchange factor PREB. Involved in the selection of the protein cargo and the assembly of the COPII coat complex (By similarity). Synergizes with the cargo receptor SURF4 to mediate the export of lipoproteins from the endoplasmic reticulum, thereby regulating lipoprotein delivery and the maintenance of lipid homeostasis (By similarity). Homodimer (By similarity). Binds PREB (PubMed:11422940). Part of the COPII coat complex. Binds to the cytoplasmic tails of target proteins in the endoplasmic reticulum (By similarity). Interacts with SURF4 (By similarity). Endoplasmic reticulum membrane ; Peripheral membrane protein Golgi apparatus, Golgi stack membrane ; Peripheral membrane protein Note=Associated with the endoplasmic reticulum and Golgi stacks, in particular in the juxta-nuclear Golgi region. Embryonic lethality during late-gestation (PubMed:33964306). Mice display gastrointestinal abnormalities associated with chylomicron retention disease: they show lower plasma levels of triglycerides, total cholesterol, and HDL-cholesterol, along with reduced chylomicron secretion following gastric lipid gavage (PubMed:33964306). Conditional deletion in the liver depletes plasma lipids (PubMed:33186557). Belongs to the small GTPase superfamily. SAR1 family. nucleotide binding regulation of COPII vesicle coating GTPase activity protein binding GTP binding endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus intracellular protein transport ER to Golgi vesicle-mediated transport protein transport membrane vesicle organization vesicle-mediated transport COPII vesicle coat Golgi cisterna membrane metal ion binding membrane organization positive regulation of protein exit from endoplasmic reticulum endoplasmic reticulum exit site uc007iup.1 uc007iup.2 uc007iup.3 uc007iup.4 
ENSMUST00000020655.14 Jade2 ENSMUST00000020655.14 jade family PHD finger 2, transcript variant 2 (from RefSeq NM_199299.5) ENSMUST00000020655.1 ENSMUST00000020655.10 ENSMUST00000020655.11 ENSMUST00000020655.12 ENSMUST00000020655.13 ENSMUST00000020655.2 ENSMUST00000020655.3 ENSMUST00000020655.4 ENSMUST00000020655.5 ENSMUST00000020655.6 ENSMUST00000020655.7 ENSMUST00000020655.8 ENSMUST00000020655.9 JADE2_MOUSE Kiaa0239 NM_199299 Phf15 Q3UHD5 Q6IE83 Q6ZQF7 uc007iuq.1 uc007iuq.2 uc007iuq.3 Scaffold subunit of some HBO1 complexes, which have a histone H4 acetyltransferase activity (By similarity). Acts as a E3 ubiquitin- protein ligase mediating the ubiquitination and subsequent proteasomal degradation of target protein histone demethylase KDM1A (PubMed:25018020). Also acts as a ubiquitin ligase E3 toward itself (PubMed:25018020). Positive regulator of neurogenesis (PubMed:25018020). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Protein modification; protein ubiquitination. Component of the HBO1 complex composed at least of ING4 or ING5, MYST2/HBO1, MEAF6, and one of JADE1, JADE2 and JADE3 (By similarity). Interacts (via C-terminus) with KDM1A (via AOD/Tower domain) (PubMed:25018020). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6ZQF7-1; Sequence=Displayed; Name=2; IsoId=Q6ZQF7-2; Sequence=VSP_021052, VSP_021053; The first PHD domain is essential for its E3 ubiquitin ligase activity. Strongly decreased level of KDM1A polyubiquitination resulting in increased level of KDM1A protein. Decelerated emergence of neural progenitors and mature neurons. Embryonic stem cells grow in aggregates with smoother-edged, rounder- shaped cell clones and fail to organize in rosettes with surrounding cells exhibiting neuronal morphology with extensive arborization. Decreased expression of neural markers. Belongs to the JADE family. Sequence=BAC97907.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; histone acetyltransferase complex protein polyubiquitination protein binding nucleoplasm protein ubiquitination transferase activity histone H3 acetylation histone H4-K5 acetylation histone H4-K8 acetylation histone H4-K12 acetylation metal ion binding regulation of neurogenesis positive regulation of neurogenesis protein autoubiquitination SMAD protein signal transduction ubiquitin protein ligase activity neuron projection extension histone H4-K16 acetylation uc007iuq.1 uc007iuq.2 uc007iuq.3 
ENSMUST00000020657.13 Ube2b ENSMUST00000020657.13 ubiquitin-conjugating enzyme E2B, transcript variant 2 (from RefSeq NM_009458.5) ENSMUST00000020657.1 ENSMUST00000020657.10 ENSMUST00000020657.11 ENSMUST00000020657.12 ENSMUST00000020657.2 ENSMUST00000020657.3 ENSMUST00000020657.4 ENSMUST00000020657.5 ENSMUST00000020657.6 ENSMUST00000020657.7 ENSMUST00000020657.8 ENSMUST00000020657.9 NM_009458 P23567 P63147 Q3UGS2 Q9D0J6 Rad6b UBE2B_MOUSE Ube2b uc007iut.1 uc007iut.2 uc007iut.3 uc007iut.4 Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys- 120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes 'Lys-11'-, as well as 'Lys-48'- and 'Lys-63'-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA. Associates to the E3 ligase RAD18 to form the UBE2B-RAD18 ubiquitin ligase complex involved in mono-ubiquitination of DNA- associated PCNA on 'Lys-164'. May be involved in neurite outgrowth. May play a role in DNA repair (By similarity). Reaction=S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin- activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin- conjugating enzyme]-L-cysteine.; EC=2.3.2.23; Evidence= Protein modification; protein ubiquitination. Interacts with RAD18, UBR2 and WAC. Cell membrane Nucleus Note=In peripheral neurons, expressed both at the plasma membrane and in nuclei. Belongs to the ubiquitin-conjugating enzyme family. nucleotide binding protein polyubiquitination chromatin nuclear chromatin in utero embryonic development XY body ubiquitin-protein transferase activity protein binding ATP binding nucleus replication fork cytoplasm plasma membrane DNA repair postreplication repair maintenance of chromatin silencing ubiquitin-dependent protein catabolic process protein monoubiquitination cellular response to DNA damage stimulus spermatogenesis sperm axoneme assembly response to UV positive regulation of reciprocal meiotic recombination membrane protein ubiquitination transferase activity regulation of histone modification ubiquitin protein ligase binding negative regulation of histone phosphorylation HULC complex histone H2A ubiquitination response to drug negative regulation of apoptotic process proteasome-mediated ubiquitin-dependent protein catabolic process negative regulation of cAMP-mediated signaling meiotic telomere clustering protein stabilization chiasma assembly protein autoubiquitination ubiquitin conjugating enzyme activity histone lysine demethylation synaptonemal complex organization protein K63-linked ubiquitination protein K48-linked ubiquitination protein K11-linked ubiquitination positive regulation of canonical Wnt signaling pathway uc007iut.1 uc007iut.2 uc007iut.3 uc007iut.4 
ENSMUST00000020662.15 Kremen1 ENSMUST00000020662.15 kringle containing transmembrane protein 1 (from RefSeq NM_032396.3) ENSMUST00000020662.1 ENSMUST00000020662.10 ENSMUST00000020662.11 ENSMUST00000020662.12 ENSMUST00000020662.13 ENSMUST00000020662.14 ENSMUST00000020662.2 ENSMUST00000020662.3 ENSMUST00000020662.4 ENSMUST00000020662.5 ENSMUST00000020662.6 ENSMUST00000020662.7 ENSMUST00000020662.8 ENSMUST00000020662.9 KREM1_MOUSE Kremen NM_032396 Q640Q6 Q99N43 uc007hwh.1 uc007hwh.2 uc007hwh.3 uc007hwh.4 Receptor for Dickkopf proteins. Cooperates with DKK1/2 to inhibit Wnt/beta-catenin signaling by promoting the endocytosis of Wnt receptors LRP5 and LRP6 (PubMed:12050670). In the absence of DKK1, potentiates Wnt-beta-catenin signaling by maintaining LRP5 or LRP6 at the cell membrane (By similarity). Can trigger apoptosis in a Wnt- independent manner and this apoptotic activity is inhibited upon binding of the ligand DKK1 (PubMed:26206087). Plays a role in limb development; attenuates Wnt signaling in the developing limb to allow normal limb patterning and can also negatively regulate bone formation (PubMed:18505822). Modulates cell fate decisions in the developing cochlea with an inhibitory role in hair cell fate specification (PubMed:27550540). Forms a ternary complex with DKK1 and LRP6 (PubMed:12050670). Interacts with LRP6 in a DKK1-dependent manner. Interacts with DKK1 and RSPO1 (via FU repeats) (By similarity). Cell membrane ; Single-pass type I membrane protein In the adult, widely expressed with high levels in heart, lung, kidney, skeletal muscle and testis. Expressed in the developing cochlea. Expressed first in the prosensory domain and the expression is restricted to supporting cells as development proceeds (at protein level). In the embryo, expression is first detected on day 9 and increases up to day 18. Lower levels are found in adult. At 9.5 dpc, expression is localized to the apical ectodermal ridge (AER) of the developing fore- and hindlimb buds, the telencephalon and the first brachial arch. At 10.5 dpc, expression is also observed in the myotome and in sensory tissues such as the nasal pit and optic vesicle. Expressed in the developing brain and developing limb buds. Animals with a double knockout of KREM1 and KREM2 exhibit enhanced Wnt signaling accompanied by ectopic postaxial forelimb digits and expanded apical ectodermal ridges. They also exhibit increased bone volume and bone formation rates. Triple knockout mice KREM1/KREM2/DKK1 exhibit enhanced growth of ectopic digits. molecular_function plasma membrane apoptotic process membrane integral component of membrane Wnt signaling pathway negative regulation of ossification neuronal cell body negative regulation of axon regeneration limb development negative regulation of canonical Wnt signaling pathway uc007hwh.1 uc007hwh.2 uc007hwh.3 uc007hwh.4 
ENSMUST00000020668.15 Havcr2 ENSMUST00000020668.15 hepatitis A virus cellular receptor 2 (from RefSeq NM_134250.2) ENSMUST00000020668.1 ENSMUST00000020668.10 ENSMUST00000020668.11 ENSMUST00000020668.12 ENSMUST00000020668.13 ENSMUST00000020668.14 ENSMUST00000020668.2 ENSMUST00000020668.3 ENSMUST00000020668.4 ENSMUST00000020668.5 ENSMUST00000020668.6 ENSMUST00000020668.7 ENSMUST00000020668.8 ENSMUST00000020668.9 HAVR2_MOUSE NM_134250 Q8VIM0 Tim3 Timd3 uc011xtp.1 uc011xtp.2 uc011xtp.3 uc011xtp.4 Cell surface receptor implicated in modulating innate and adaptive immune responses. Generally accepted to have an inhibiting function. Reports on stimulating functions suggest that the activity may be influenced by the cellular context and/or the respective ligand (PubMed:18006747). Regulates macrophage activation (PubMed:11823861). Inhibits T-helper type 1 lymphocyte (Th1)-mediated auto- and alloimmune responses and promotes immunological tolerance (PubMed:14556006, PubMed:18006747). In CD8+ cells attenuates TCR-induced signaling, specifically by blocking NF-kappaB and NFAT promoter activities resulting in the loss of IL-2 secretion. The function may implicate its association with LCK proposed to impair phosphorylation of TCR subunits (By similarity). In contrast, shown to activate TCR-induced signaling in T-cells probably implicating ZAP70, LCP2, LCK and FYN (PubMed:21807895). Expressed on Treg cells can inhibit Th17 cell responses (By similarity). Receptor for LGALS9. Binding to LGALS9 is believed to result in suppression of T-cell responses; the resulting apoptosis of antigen-specific cells may implicate HAVCR2 phosphorylation and disruption of its association with BAG6 (PubMed:22863785). Binding to LGALS9 is proposed to be involved in innate immune response to intracellular pathogens. Expressed on Th1 cells interacts with LGALS9 expressed on Mycobacterium tuberculosis- infected macrophages to stimulate antibactericidal activity including IL-1 beta secretion and to restrict intracellular bacterial growth (PubMed:20937702). However, the function as receptor for LGALS9 has been challenged (By similarity). Also reported to enhance CD8+ T-cell responses to an acute infection such as by Listeria monocytogenes (PubMed:24567532). Receptor for phosphatidylserine (PtSer); PtSer- binding is calcium-dependent (PubMed:20083673). May recognize PtSer on apoptotic cells leading to their phagocytosis. Mediates the engulfment of apoptotic cells by dendritic cells (PubMed:19224762). Expressed on T-cells, promotes conjugation but not engulfment of apoptotic cells (PubMed:20083673). Expressed on dendritic cells (DCs) positively regulates innate immune response and in synergy with Toll-like receptors promotes secretion of TNF-alpha (PubMed:18006747). In tumor- imfiltrating DCs suppresses nucleic acid-mediated innate immune repsonse by interaction with HMGB1 and interfering with nucleic acid- sensing and trafficking of nucleid acids to endosomes (PubMed:22842346). Can enhance mast cell production of Th2 cytokines Il-4, IL-6 and IL-13 (PubMed:17620455). Expressed on natural killer (NK) cells acts as a coreceptor to enhance IFN-gamma production in response to LGALS9. In contrast, shown to suppress NK cell-mediated cytotoxicity (By similarity). Negatively regulates NK cell function in LPS-induced endotoxic shock (PubMed:25337993). Interacts with HMGB1; impairs HMGB1 binding to B-DNA and likely HMGB1-mediated innate immune response (PubMed:22842346). Interacts with BAG6 (PubMed:22863785). Interacts (phosphorylated) with PIK3R1 and PIK3R2. Interacts (not dependent on its phosphorylation status) with FYN (PubMed:21807895). Interacts (in basal state T-cells) with VAV1; AKT1/2, LCP2, ZAP70, SYK, PIK3R1, FYN, SH3BP2 and SH2D2A. Interacts (in activated T-cells) with LCK and PLCG (By similarity). Interacts with ILF3; this interaction promotes ILF3 ubiquitination and degradation (By similarity). Q8VIM0; P63158: Hmgb1; NbExp=4; IntAct=EBI-6665112, EBI-6665811; Q8VIM0; O08573-2: Lgals9; NbExp=4; IntAct=EBI-6665112, EBI-11316797; [Isoform 1]: Membrane ; Single-pass type I membrane protein Cell junction Note=Localizes to the immunological synapse between CD8+ T-cells and target cells. [Isoform 2]: Secreted Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Tim-3L, flTim-3; IsoId=Q8VIM0-1; Sequence=Displayed; Name=2; Synonyms=sTim-3; IsoId=Q8VIM0-2; Sequence=VSP_058116; Expressed in T-helper type 1 lymphocytes. Not expressed by naive T-cells but up-regulated as they differentiate into T-helper-1 cells. Also expressed by differentiated type 1 CD8+ cytotoxic T-cells. Expressed on peritoneal exudate macrophages, monocytes, and splenic dendritic cells (DCs). Expression on natural killer (NK) cells is inversely associated with IFN-gamma production during the initial 24 hours of LPS-induced endotoxic shock. Expressed on mast cells. The Ig-like V-type (immunoglobulin-like) domain mediates binding to PtSer involving a Ca(2+) ion. Phosphorylated on tyrosine residues; modestly increased after TCR/CD28 stimulation. Can be phosphorylated in the cytoplasmatic domain by FYN (PubMed:21807895). Phosphorylation at Tyr-256 is increased by stimulation with ligand LGALS9 (By similarity). N-glycosylated. Polymorphic differences between BALB/c and HBA alleles in the Ig-like V-type domain are the reason for distinct binding affinities for PtSer. The HBA2 allele binds PtSer approximately 50% less than BALB/c. Belongs to the T-cell and airway phenotype regulator (Tapr) locus, a single chromosomal region that confers reduced T-helper type 2 responsiveness and protects against airway hyperactivity (AHR), the hallmark of human asthma. In vivo administration of antibody to HAVCR2 enhances the clinical and pathological severity of experimental autoimmune encephalomyelitis (EAE), a Th1-dependent autoimmune disease and increases the number and activation level of macrophages. Endogenous expression on dendritic cells is proposed to act as a negative regulator of chemotherapy-induced antitumor responses. Belongs to the immunoglobulin superfamily. TIM family. Experimental results based on the injection of HAVCR2/TIM-3 antibodies or use of HAVCR2/TIM-3-Fc fusion proteins can reflect changes in the activity of several cell types and pathways as HAVCR2/TIM-3 is expressed by multiple immune cell types. Name=Functional Glycomics Gateway - Glycan Binding; Note=TIMD-3; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_mou_other_382"; immunological synapse positive regulation of cytokine production adaptive immune response macrophage activation involved in immune response immune system process natural killer cell tolerance induction regulation of tolerance induction dependent upon immune response negative regulation of T-helper 1 type immune response negative regulation of immune response to tumor cell negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target protein binding extracellular region early endosome plasma membrane regulation of transcription from RNA polymerase II promoter inflammatory response cell surface negative regulation of gene expression membrane integral component of membrane mediator complex cell junction negative regulation of myeloid dendritic cell activation negative regulation of NF-kappaB transcription factor activity negative regulation of type I interferon production negative regulation of interferon-alpha production negative regulation of interferon-gamma production negative regulation of interleukin-2 production negative regulation of interleukin-3 production negative regulation of interleukin-6 production negative regulation of tumor necrosis factor production positive regulation of chemokine production positive regulation of interferon-gamma production positive regulation of interleukin-1 production positive regulation of interleukin-4 production negative regulation of natural killer cell activation toll-like receptor 3 signaling pathway toll-like receptor 7 signaling pathway toll-like receptor 9 signaling pathway positive regulation of T cell proliferation negative regulation of T cell proliferation positive regulation of macrophage activation innate immune response positive regulation of innate immune response negative regulation of innate immune response metal ion binding defense response to Gram-positive bacterium maternal process involved in female pregnancy positive regulation of ERK1 and ERK2 cascade cellular response to lipopolysaccharide negative regulation of granulocyte colony-stimulating factor production negative regulation of defense response to bacterium positive regulation of defense response to bacterium positive regulation of NIK/NF-kappaB signaling positive regulation of tumor necrosis factor secretion negative regulation of immunological synapse formation negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell uc011xtp.1 uc011xtp.2 uc011xtp.3 uc011xtp.4 
ENSMUST00000020672.5 Fabp6 ENSMUST00000020672.5 fatty acid binding protein 6 (from RefSeq NM_008375.2) ENSMUST00000020672.1 ENSMUST00000020672.2 ENSMUST00000020672.3 ENSMUST00000020672.4 FABP6_MOUSE Illbp NM_008375 P51162 Q5SRT9 uc007imt.1 uc007imt.2 uc007imt.3 uc007imt.4 The protein encoded by this gene is part of the fatty acid binding protein family (FABP). FABPs are a family of small, highly conserved, cytoplasmic proteins that bind long-chain fatty acids and other hydrophobic ligands and participate in fatty acid uptake, transport, and metabolism. This protein functions within the ileum, the distal 25-30% of the small intestine, and plays a role in enterohepatic circulation of bile acids and cholesterol homeostasis. In humans, it has been reported that polymorphisms in FABP6 confer a protective effect in obese individuals from developing type 2 diabetes. In mice deficiency of this gene affects bile acid metabolism in a gender-specific manner and was reported to be required for efficient apical to basolateral transport of conjugated bile acids. [provided by RefSeq, Jan 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: CJ043022.1, BX633352.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN00849389 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds to bile acids and is involved in enterohepatic bile acid metabolism. Required for efficient apical to basolateral transport of conjugated bile acids in ileal enterocytes (PubMed:23251388). Stimulates gastric acid and pepsinogen secretion (By similarity). Cytoplasm Membrane; Peripheral membrane protein ; Cytoplasmic side Expressed in ovary granulosa and luteal cells. Forms a beta-barrel structure that accommodates hydrophobic ligands in its interior. Can bind at least two ligands per molecule, however, the stoichiometry is debated. Belongs to the calycin superfamily. Fatty-acid binding protein (FABP) family. fatty acid binding cytoplasm cytosol lipid transport bile acid metabolic process lipid binding membrane uc007imt.1 uc007imt.2 uc007imt.3 uc007imt.4 
ENSMUST00000020679.3 Nipal4 ENSMUST00000020679.3 NIPA-like domain containing 4 (from RefSeq NM_172524.3) A4QPF8 ENSMUST00000020679.1 ENSMUST00000020679.2 Ichn NIPA4_MOUSE NM_172524 Nipa4 Q8BZF2 uc007ioa.1 uc007ioa.2 uc007ioa.3 Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Ba(2+), Sr(2+) and Fe(2+) but to a much less extent than Mg(2+) (PubMed:18667602). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway (By similarity). Reaction=Mg(2+)(in) = Mg(2+)(out); Xref=Rhea:RHEA:29827, ChEBI:CHEBI:18420; Evidence=; Kinetic parameters: KM=0.36 mM for magnesium ions ; Cell membrane ; Multi-pass membrane protein Up-regulated by low magnesium ion levels. Belongs to the NIPA family. molecular_function ion transport magnesium ion transmembrane transporter activity magnesium ion transport membrane integral component of membrane magnesium ion transmembrane transport uc007ioa.1 uc007ioa.2 uc007ioa.3 
ENSMUST00000020681.10 Slu7 ENSMUST00000020681.10 SLU7 splicing factor homolog (S. cerevisiae), transcript variant 2 (from RefSeq NM_198936.1) D11Ertd730e ENSMUST00000020681.1 ENSMUST00000020681.2 ENSMUST00000020681.3 ENSMUST00000020681.4 ENSMUST00000020681.5 ENSMUST00000020681.6 ENSMUST00000020681.7 ENSMUST00000020681.8 ENSMUST00000020681.9 NM_198936 Q3KQQ3 Q5SRU1 Q63ZX3 Q6P923 Q8BHJ9 Q8BL59 Q8BXD5 Q8R5C1 Q91YV6 SLU7_MOUSE uc007imq.1 uc007imq.2 uc007imq.3 Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. Required for pre-mRNA splicing as component of the spliceosome. Participates in the second catalytic step of pre-mRNA splicing, when the free hydroxyl group of exon I attacks the 3'-splice site to generate spliced mRNA and the excised lariat intron. Required for holding exon 1 properly in the spliceosome and for correct AG identification when more than one possible AG exists in 3'-splicing site region. May be involved in the activation of proximal AG. Probably also involved in alternative splicing regulation. Component of pre-catalytic, catalytic and post-catalytic spliceosomes. Associates with the spliceosome prior to recognition of the 3'-splice site for step II, probably during catalysis of step I. Nucleus Nucleus speckle Cytoplasm Note=Predominantly nuclear. Shuttling between the nucleus and the cytoplasm is regulated by the CCHC-type zinc finger. Upon UV-C stress stimulus, the nuclear concentration of the protein decreases, affecting alternative splicing. Translocates from the nucleus to the cytoplasm after heat shock cell treatment. Accumulates in cytoplasmic vesicle-like organelles after heat shock treatment, which may represent stress granules. The CCHC-type zinc finger is required to retain the protein within the nucleus and prevent its shuttle back to the cytoplasm via the CRM1 pathway. Belongs to the SLU7 family. Sequence=AAH13810.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=CAI24831.1; Type=Erroneous gene model prediction; Evidence=; RNA splicing, via transesterification reactions alternative mRNA splicing, via spliceosome second spliceosomal transesterification activity mRNA 3'-splice site recognition mRNA splicing, via spliceosome nucleus nucleoplasm spliceosomal complex cytoplasm cytosol mRNA processing intracellular protein transport zinc ion binding RNA splicing nuclear speck small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding cellular response to heat intracellular membrane-bounded organelle metal ion binding catalytic step 2 spliceosome uc007imq.1 uc007imq.2 uc007imq.3 
ENSMUST00000020683.10 Hus1 ENSMUST00000020683.10 HUS1 checkpoint clamp component, transcript variant 4 (from RefSeq NR_130178.1) ENSMUST00000020683.1 ENSMUST00000020683.2 ENSMUST00000020683.3 ENSMUST00000020683.4 ENSMUST00000020683.5 ENSMUST00000020683.6 ENSMUST00000020683.7 ENSMUST00000020683.8 ENSMUST00000020683.9 HUS1_MOUSE NR_130178 O70543 Q6P8H5 Q8BQY8 uc007hzq.1 uc007hzq.2 uc007hzq.3 This gene encodes a component of a cell cycle checkpoint complex that causes cell cycle arrest in response to bulky DNA lesions and DNA replication blockage. Together with the proteins Rad9 and Rad1, the encoded protein forms a heterotrimeric complex known as the 9-1-1 complex. Mice lacking the encoded protein develop spontaneous chromosomal abnormalities resulting in embryonic lethality. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]. Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths; and DNA ligase I (LIG1) on long-patch base excision repair substrates. The 9-1-1 complex is necessary for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase. Component of the toroidal 9-1-1 (RAD9-RAD1-HUS1) complex, composed of RAD9A, RAD1 and HUS1. The 9-1-1 complex associates with LIG1, POLB, FEN1, RAD17, HDAC1, RPA1 and RPA2. The 9-1-1 complex associates with the RAD17-RFC complex. HUS1 interacts with POLB, HDAC1, FEN1, PCNA and RAD9B. HUS1 does not interact with RAD17. Interacts with DNAJC7. Nucleus Cytoplasm, cytosol Note=In discrete nuclear foci upon DNA damage. DNA damage induces its nuclear translocation. Shuttles between the nucleus and the cytoplasm. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8BQY8-1; Sequence=Displayed; Name=2; IsoId=Q8BQY8-2; Sequence=VSP_017332; Name=3; IsoId=Q8BQY8-3; Sequence=VSP_017332, VSP_017333; Ubiquitous. Belongs to the HUS1 family. DNA damage checkpoint telomere maintenance double-strand break repair via homologous recombination regulation of protein phosphorylation nucleus nucleolus cytoplasm nucleotide-excision repair protein phosphorylation cellular response to DNA damage stimulus mitotic cell cycle checkpoint negative regulation of DNA replication response to UV embryo development ending in birth or egg hatching checkpoint clamp complex intra-S DNA damage checkpoint mitotic DNA replication checkpoint site of double-strand break meiotic DNA integrity checkpoint cellular response to ionizing radiation uc007hzq.1 uc007hzq.2 uc007hzq.3 
ENSMUST00000020687.15 Pttg1 ENSMUST00000020687.15 pituitary tumor-transforming gene 1, transcript variant 19 (from RefSeq NM_001425553.1) ENSMUST00000020687.1 ENSMUST00000020687.10 ENSMUST00000020687.11 ENSMUST00000020687.12 ENSMUST00000020687.13 ENSMUST00000020687.14 ENSMUST00000020687.2 ENSMUST00000020687.3 ENSMUST00000020687.4 ENSMUST00000020687.5 ENSMUST00000020687.6 ENSMUST00000020687.7 ENSMUST00000020687.8 ENSMUST00000020687.9 NM_001425553 O88887 PTTG1_MOUSE Pttg Q9CQJ7 Q9Z2E6 uc011xth.1 uc011xth.2 uc011xth.3 Regulatory protein, which plays a central role in chromosome stability, in the p53/TP53 pathway, and DNA repair. Probably acts by blocking the action of key proteins. During the mitosis, it blocks Separase/ESPL1 function, preventing the proteolysis of the cohesin complex and the subsequent segregation of the chromosomes. At the onset of anaphase, it is ubiquitinated, conducting to its destruction and to the liberation of ESPL1. Its function is however not limited to a blocking activity, since it is required to activate ESPL1. Negatively regulates the transcriptional activity and related apoptosis activity of p53/TP53. The negative regulation of p53/TP53 may explain the strong transforming capability of the protein when it is overexpressed. May also play a role in DNA repair via its interaction with Ku, possibly by connecting DNA damage-response pathways with sister chromatid separation (By similarity). Interacts with RPS10 and DNAJA1. Interacts with the caspase- like ESPL1, and prevents its protease activity probably by covering its active site. Interacts with p53/TP53 and blocks its activity probably by blocking its binding to DNA. Interacts with the Ku 70 kDa subunit of ds-DNA kinase. Interacts with PTTG1IP (By similarity). Cytoplasm Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CQJ7-1; Sequence=Displayed; Name=2; IsoId=Q9CQJ7-2; Sequence=VSP_006998, VSP_006999; During the stages 11.5-13.5 dpc it is expressed in most tissues of the embryo. Within the telencephalon, it is exclusively expressed inside of the ventricular zone (VZ). The expression reaches its peak by 15.5 dpc and starts to decrease by 18.5 dpc, and is not detectable in the adult brains. Most of the cells expressing it were found in the lower part of the ventricular zone. The N-terminal destruction box (D-box) acts as a recognition signal for degradation via the ubiquitin-proteasome pathway. The TEK-boxes are required for 'Lys-11'-linked ubiquitination and facilitate the transfer of the first ubiquitin and ubiquitin chain nucleation. TEK-boxes may direct a catalytically competent orientation of the UBE2C/UBCH10-ubiquitin thioester with the acceptor lysine residue (By similarity). Phosphorylated at Ser-162 by CDC2 during mitosis. Phosphorylated in vitro by ds-DNA kinase. Ubiquitinated through 'Lys-11' linkage of ubiquitin moieties by the anaphase promoting complex (APC) at the onset of anaphase, conducting to its degradation. 'Lys-11'-linked ubiquitination is mediated by the E2 ligase UBE2C/UBCH10 (By similarity). Belongs to the securin family. RNA polymerase II transcription factor activity, sequence-specific DNA binding regulation of cell growth cysteine-type endopeptidase inhibitor activity nucleus cytoplasm cytosol DNA repair regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter cellular response to DNA damage stimulus cell cycle chromosome segregation mitotic sister chromatid cohesion negative regulation of cell proliferation cellular process negative regulation of endopeptidase activity SH3 domain binding heat shock protein binding ribosome binding homologous chromosome segregation chromosome organization cell division negative regulation of mitotic sister chromatid separation uc011xth.1 uc011xth.2 uc011xth.3 
ENSMUST00000020692.7 Btg2 ENSMUST00000020692.7 BTG anti-proliferation factor 2 (from RefSeq NM_007570.2) Btg2 ENSMUST00000020692.1 ENSMUST00000020692.2 ENSMUST00000020692.3 ENSMUST00000020692.4 ENSMUST00000020692.5 ENSMUST00000020692.6 NM_007570 Q3TF68 Q3TF68_MOUSE uc007cre.1 uc007cre.2 uc007cre.3 Belongs to the BTG family. negative regulation of transcription from RNA polymerase II promoter transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding cellular response to DNA damage stimulus negative regulation of cell proliferation response to mechanical stimulus response to organic substance response to organonitrogen compound response to organic cyclic compound negative regulation of translation neuron differentiation neuron projection development negative regulation of apoptotic process response to peptide hormone negative regulation of neuron apoptotic process response to electrical stimulus positive regulation of nuclear-transcribed mRNA poly(A) tail shortening uc007cre.1 uc007cre.2 uc007cre.3 
ENSMUST00000020699.4 Castor1 ENSMUST00000020699.4 cytosolic arginine sensor for mTORC1 subunit 1 (from RefSeq NM_028022.2) CAST1_MOUSE Castor1 ENSMUST00000020699.1 ENSMUST00000020699.2 ENSMUST00000020699.3 Gatsl3 NM_028022 Q29R56 Q9CWQ8 uc007hur.1 uc007hur.2 uc007hur.3 Functions as an intracellular arginine sensor within the amino acid-sensing branch of the TORC1 signaling pathway. As a homodimer or a heterodimer with CASTOR2, binds and inhibits the GATOR subcomplex GATOR2 and thereby mTORC1. Binding of arginine to CASTOR1 allosterically disrupts the interaction of CASTOR1-containing dimers with GATOR2 which can in turn activate mTORC1 and the TORC1 signaling pathway. Forms homodimers and heterodimers with CASTOR2 (By similarity). Interacts with the GATOR2 complex which is composed of MIOS, SEC13, SEH1L, WDR24 and WDR59; the interaction is negatively regulated by arginine (By similarity). Interacts with TM4SF5; the interaction is positively regulated by leucine and is negatively regulated by arginine (By similarity). Cytoplasm, cytosol Based on x-ray crystallography data, the protein would be constituted of 4 tandem ACT domains instead of the 2 predicted from the sequence. Phosphorylation at Ser-14 by AKT1, promoting the interaction between CASTOR1 and RNF167. Ubiquitinated by RNF167 via 'Lys-29'-polyubiquitination, leading to its degradation, releasing the GATOR2 complex. Ubiquitination by RNF167 is promoted by phosphorylation at Ser-14 by AKT1. Belongs to the GATS family. cytoplasm cytosol arginine binding identical protein binding GATOR2 complex regulation of intracellular signal transduction regulation of TORC1 signaling cellular response to L-arginine negative regulation of TORC1 signaling uc007hur.1 uc007hur.2 uc007hur.3 
ENSMUST00000020702.11 Igfbp3 ENSMUST00000020702.11 insulin-like growth factor binding protein 3 (from RefSeq NM_008343.2) ENSMUST00000020702.1 ENSMUST00000020702.10 ENSMUST00000020702.2 ENSMUST00000020702.3 ENSMUST00000020702.4 ENSMUST00000020702.5 ENSMUST00000020702.6 ENSMUST00000020702.7 ENSMUST00000020702.8 ENSMUST00000020702.9 IBP3_MOUSE Igfbp-3 NM_008343 P47878 Q6PE62 uc007hzi.1 uc007hzi.2 uc007hzi.3 uc007hzi.4 uc007hzi.5 IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Also exhibits IGF-independent antiproliferative and apoptotic effects mediated by its receptor TMEM219/IGFBP-3R. Promotes testicular germ cell apoptosis. Interacts with XLKD1. Binds IGF2 more than IGF1. Forms a ternary complex of about 140 to 150 kDa with IGF1 or IGF2 and a 85 kDa glycoprotein (ALS). Interacts with TMEM219 (By similarity). Secreted. Phosphorylated by FAM20C in the extracellular medium. No effect on baseline apoptosis in the testis but germ cell apoptosis is dramatically reduced following treatment with a gonadotropin-releasing hormone antagonist. regulation of cell growth osteoblast differentiation negative regulation of protein phosphorylation fibronectin binding insulin-like growth factor binding extracellular region extracellular space nucleus nuclear heterochromatin protein phosphorylation protein tyrosine phosphatase activator activity negative regulation of cell proliferation positive regulation of cardiac muscle cell apoptotic process regulation of glucose metabolic process negative regulation of smooth muscle cell migration growth factor binding platelet alpha granule insulin-like growth factor I binding insulin-like growth factor II binding regulation of growth insulin-like growth factor ternary complex insulin-like growth factor binary complex positive regulation of apoptotic process positive regulation of MAPK cascade regulation of insulin-like growth factor receptor signaling pathway positive regulation of insulin-like growth factor receptor signaling pathway regulation of phosphoprotein phosphatase activity type B pancreatic cell proliferation positive regulation of myoblast differentiation negative regulation of smooth muscle cell proliferation positive regulation of apoptotic DNA fragmentation negative regulation of testosterone secretion uc007hzi.1 uc007hzi.2 uc007hzi.3 uc007hzi.4 uc007hzi.5 
ENSMUST00000020704.8 Igfbp1 ENSMUST00000020704.8 insulin-like growth factor binding protein 1 (from RefSeq NM_008341.4) ENSMUST00000020704.1 ENSMUST00000020704.2 ENSMUST00000020704.3 ENSMUST00000020704.4 ENSMUST00000020704.5 ENSMUST00000020704.6 ENSMUST00000020704.7 IBP1_MOUSE Igfbp-1 NM_008341 P47876 Q5SVY8 Q61732 uc007hzh.1 uc007hzh.2 uc007hzh.3 uc007hzh.4 IGF-binding proteins prolong the half-life of the IGFs and have been shown to either inhibit or stimulate the growth promoting effects of the IGFs on cell culture. They alter the interaction of IGFs with their cell surface receptors. Promotes cell migration (By similarity). Binds equally well IGF1 and IGF2. Secreted. insulin-like growth factor binding extracellular region extracellular space Golgi apparatus aging insulin receptor signaling pathway growth factor binding positive regulation of cell growth insulin-like growth factor I binding insulin-like growth factor II binding tissue regeneration regulation of insulin-like growth factor receptor signaling pathway uc007hzh.1 uc007hzh.2 uc007hzh.3 uc007hzh.4 
ENSMUST00000020705.5 Pes1 ENSMUST00000020705.5 pescadillo ribosomal biogenesis factor 1 (from RefSeq NM_022889.3) ENSMUST00000020705.1 ENSMUST00000020705.2 ENSMUST00000020705.3 ENSMUST00000020705.4 NM_022889 PESC_MOUSE Pes Q542F0 Q9EQ61 uc007hua.1 uc007hua.2 Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome. Component of the PeBoW complex, composed of BOP1, PES1 and WDR12 (PubMed:15225545). The complex is held together by BOP1, which interacts with PES1 via its N-terminal domain and with WDR12 via a high-affinity interaction between the seven-bladed beta-propeller domains of the 2 proteins. The PeBoW complex associates with the 66S pre-ribosome (By similarity). The PeBoW complex also associates with DDX27, PES1 interacts directly with DDX27 (By similarity). Interacts with IRS1 and UBTF (PubMed:15169904). May interact with MAP1B (PubMed:17308336). Nucleus, nucleolus. Nucleus, nucleoplasm. Chromosome. Note=Appears to localize to the periphery of metaphase chromosomes during mitosis and to the prenucleolar bodies that form in mitotic cells prior to the actual nucleoli. Ubiquitous. Highest levels appear to be found in tissues that contain a population of proliferating cells, such as ovary and testis. Also appears to be highly expressed in kidney and liver. In the brain expression is restricted to neural progenitor cells and postmitotic neurons. Highly expressed in malignant astrocytes. In 2-cell and 4-cell stage interphase blastomeres expression is restricted to a sub-nuclear band that encircles one or more large vacuoles within the nucleus. These vacuoles may give rise to the mature nucleolus. Later in embryogenesis high levels are detected in developing liver. Is also widely and highly expressed throughout the developing brain and spinal cord at embryonic day 13. Induced in malignant astrocytes following the loss of p53. Induced in hepatocytes following partial hepatectomy. Sumoylated. Embryos die during preimplantation stages of development, with blastomeres failing to progress past morula stages. Within blastocysts the nucleoli fail to form correctly and the number of ribosomes appears dramatically reduced. Belongs to the pescadillo family. maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) condensed chromosome protein binding nucleus nucleoplasm chromosome nucleolus cytosol rRNA processing nucleolus organization cell proliferation preribosome, large subunit precursor protein localization to organelle ribosome biogenesis ribosomal large subunit biogenesis ribonucleoprotein complex binding regulation of cell cycle PeBoW complex uc007hua.1 uc007hua.2 
ENSMUST00000020706.5 Adcy1 ENSMUST00000020706.5 adenylate cyclase 1 (from RefSeq NM_009622.2) ADCY1_MOUSE ENSMUST00000020706.1 ENSMUST00000020706.2 ENSMUST00000020706.3 ENSMUST00000020706.4 NM_009622 O88444 Q5SS89 uc007hzf.1 uc007hzf.2 uc007hzf.3 Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Mediates responses to increased cellular Ca(2+)/calmodulin levels (PubMed:9662407, PubMed:7816821). May be involved in regulatory processes in the central nervous system (PubMed:9662407). May play a role in memory and learning (PubMed:7816821). Plays a role in the regulation of the circadian rhythm of daytime contrast sensitivity probably by modulating the rhythmic synthesis of cyclic AMP in the retina (PubMed:24048828). Reaction=ATP = 3',5'-cyclic AMP + diphosphate; Xref=Rhea:RHEA:15389, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58165; EC=4.6.1.1; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 magnesium ions per subunit. Is also active with manganese (in vitro). ; Activated by calcium/calmodulin (PubMed:9662407). Activated by forskolin. Activated by the G protein alpha subunit GNAS. Inhibited by the G protein beta and gamma subunit complex. Inhibited by the ATP analogs adenosine, 2'-deoxyadenosine and 2'-deoxy-3'-AMP. Interacts with CALM. Membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein Cytoplasm Membrane raft Note=Expressed in the cytoplasm of supporting cells and hair cells of the cochlea vestibule, as well as to the cochlear hair cell nuclei and stereocilia|. Expressed throughout inner ear development. Expression in the retina oscillates in a circadian manner. The protein contains two modules with six transmembrane helices each; both are required for catalytic activity. Isolated N-terminal or C-terminal modules have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two modules. N-glycosylated. Mice appear grossly normal and healthy, but have decreased levels of calmodulin-sensitive adenylyl cyclase activity in the brain (PubMed:7816821). They show impaired spatial memory (PubMed:7816821). Mice show a significant reduction in daytime contrast sensitivity (PubMed:24048828). Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. nucleotide binding adenylate cyclase activity calmodulin binding ATP binding nucleus cytoplasm plasma membrane integral component of plasma membrane cAMP biosynthetic process adenylate cyclase-activating G-protein coupled receptor signaling pathway activation of adenylate cyclase activity axonogenesis brain development long-term memory circadian rhythm calcium- and calmodulin-responsive adenylate cyclase activity cyclic nucleotide biosynthetic process response to lithium ion postsynaptic density membrane integral component of membrane lyase activity phosphorus-oxygen lyase activity cAMP-mediated signaling positive regulation of CREB transcription factor activity intracellular signal transduction response to drug regulation of circadian rhythm membrane raft metal ion binding rhythmic process modulation of synaptic transmission cellular response to calcium ion glutamatergic synapse integral component of postsynaptic density membrane positive regulation of long-term synaptic potentiation cellular response to forskolin regulation of synaptic vesicle exocytosis uc007hzf.1 uc007hzf.2 uc007hzf.3 
ENSMUST00000020707.12 Gabra1 ENSMUST00000020707.12 gamma-aminobutyric acid type A receptor subunit alpha 1, transcript variant 1 (from RefSeq NM_010250.5) ENSMUST00000020707.1 ENSMUST00000020707.10 ENSMUST00000020707.11 ENSMUST00000020707.2 ENSMUST00000020707.3 ENSMUST00000020707.4 ENSMUST00000020707.5 ENSMUST00000020707.6 ENSMUST00000020707.7 ENSMUST00000020707.8 ENSMUST00000020707.9 Gabra1 NM_010250 Q544F7 Q544F7_MOUSE uc007imf.1 uc007imf.2 uc007imf.3 uc007imf.4 Cell membrane ; Multi-pass membrane protein Cytoplasmic vesicle membrane Membrane ; Multi-pass membrane protein Postsynaptic cell membrane ; Multi-pass membrane protein Synaptic cell membrane ; Multi-pass membrane protein Belongs to the ligand-gated ion channel (TC 1.A.9) family. Gamma-aminobutyric acid receptor (TC 1.A.9.5) subfamily. GABRA1 sub- subfamily. transmembrane signaling receptor activity GABA-A receptor activity ion channel activity extracellular ligand-gated ion channel activity plasma membrane integral component of plasma membrane ion transport chloride transport gamma-aminobutyric acid signaling pathway drug binding membrane integral component of membrane GABA receptor activity GABA-gated chloride ion channel activity ion transmembrane transport synaptic transmission, GABAergic cellular response to histamine GABA-ergic synapse integral component of postsynaptic specialization membrane chloride transmembrane transport GABA receptor complex GABA-A receptor complex inhibitory synapse assembly uc007imf.1 uc007imf.2 uc007imf.3 uc007imf.4 
ENSMUST00000020712.5 4921536K21Rik ENSMUST00000020712.5 RIKEN cDNA 4921536K21 gene (from RefSeq NM_026150.3) CE052_MOUSE ENSMUST00000020712.1 ENSMUST00000020712.2 ENSMUST00000020712.3 ENSMUST00000020712.4 NM_026150 Q3TSB3 Q9CR34 uc007hts.1 uc007hts.2 uc007hts.3 uc007hts.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CR34-1; Sequence=Displayed; Name=2; IsoId=Q9CR34-2; Sequence=VSP_034220; Sequence=BAE36762.1; Type=Erroneous initiation; Evidence=; molecular_function cellular_component biological_process uc007hts.1 uc007hts.2 uc007hts.3 uc007hts.4 
ENSMUST00000020717.12 Arf5 ENSMUST00000020717.12 ADP-ribosylation factor 5 (from RefSeq NM_007480.2) A2RTC5 ARF5_MOUSE ENSMUST00000020717.1 ENSMUST00000020717.10 ENSMUST00000020717.11 ENSMUST00000020717.2 ENSMUST00000020717.3 ENSMUST00000020717.4 ENSMUST00000020717.5 ENSMUST00000020717.6 ENSMUST00000020717.7 ENSMUST00000020717.8 ENSMUST00000020717.9 NM_007480 P26437 P84084 uc009bcq.1 uc009bcq.2 uc009bcq.3 GTP-binding protein involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus. Interacts (when activated) with GGA1, GGA2 and GGA3; the interaction is required for proper subcellular location of GGA1, GGA2 and GGA3 (PubMed:11950392). Binds ASAP2 (By similarity). Interacts with NCS1/FREQ at the Golgi complex. Interacts with RAB11FIP3 and RAB11FIP4 (By similarity). P84084; Q8BYR5: Cadps2; NbExp=5; IntAct=EBI-7569461, EBI-7569313; Golgi apparatus. Cytoplasm, perinuclear region Membrane ; Lipid-anchor Golgi apparatus, trans-Golgi network membrane ; Lipid-anchor Ubiquitous. Belongs to the small GTPase superfamily. Arf family. nucleotide binding protein binding GTP binding cytoplasm Golgi apparatus plasma membrane intracellular protein transport retrograde vesicle-mediated transport, Golgi to ER protein transport membrane vesicle-mediated transport perinuclear region of cytoplasm uc009bcq.1 uc009bcq.2 uc009bcq.3 
ENSMUST00000020719.7 2310033P09Rik ENSMUST00000020719.7 RIKEN cDNA 2310033P09 gene (from RefSeq NM_024210.2) ENSMUST00000020719.1 ENSMUST00000020719.2 ENSMUST00000020719.3 ENSMUST00000020719.4 ENSMUST00000020719.5 ENSMUST00000020719.6 MMTA2_MOUSE Mmtag2 NM_024210 Q99LX5 Q9CSK6 uc007jdl.1 uc007jdl.2 uc007jdl.3 uc007jdl.4 cellular_component biological_process uc007jdl.1 uc007jdl.2 uc007jdl.3 uc007jdl.4 
ENSMUST00000020741.12 Drg1 ENSMUST00000020741.12 developmentally regulated GTP binding protein 1 (from RefSeq NM_007879.2) Drg1 ENSMUST00000020741.1 ENSMUST00000020741.10 ENSMUST00000020741.11 ENSMUST00000020741.2 ENSMUST00000020741.3 ENSMUST00000020741.4 ENSMUST00000020741.5 ENSMUST00000020741.6 ENSMUST00000020741.7 ENSMUST00000020741.8 ENSMUST00000020741.9 NM_007879 Q5NBZ3 Q5NBZ3_MOUSE uc007hsh.1 uc007hsh.2 uc007hsh.3 GTPase activity GTP binding nucleus cytoplasm cytosol polysome microtubule binding nuclear body potassium ion binding positive regulation of microtubule polymerization identical protein binding regulation of mitotic spindle assembly uc007hsh.1 uc007hsh.2 uc007hsh.3 
ENSMUST00000020749.13 Mtif2 ENSMUST00000020749.13 mitochondrial translational initiation factor 2, transcript variant 3 (from RefSeq NM_001282119.1) ENSMUST00000020749.1 ENSMUST00000020749.10 ENSMUST00000020749.11 ENSMUST00000020749.12 ENSMUST00000020749.2 ENSMUST00000020749.3 ENSMUST00000020749.4 ENSMUST00000020749.5 ENSMUST00000020749.6 ENSMUST00000020749.7 ENSMUST00000020749.8 ENSMUST00000020749.9 IF2M_MOUSE NM_001282119 Q5M6W6 Q91YJ5 uc287xdu.1 uc287xdu.2 One of the essential components for the initiation of protein synthesis. Protects formylmethionyl-tRNA from spontaneous hydrolysis and promotes its binding to the 30S ribosomal subunits. Also involved in the hydrolysis of GTP during the formation of the 70S ribosomal complex (By similarity). Monomer. Mitochondrion Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. IF-2 subfamily. nucleotide binding translation initiation factor activity GTPase activity GTP binding nucleoplasm mitochondrion translation translational initiation translation factor activity, RNA binding ribosome disassembly ribosomal small subunit binding mitochondrial translational initiation uc287xdu.1 uc287xdu.2 
ENSMUST00000020754.10 Cfap36 ENSMUST00000020754.10 cilia and flagella associated protein 36 (from RefSeq NM_025740.3) CFA36_MOUSE Ccdc104 Cfap36 ENSMUST00000020754.1 ENSMUST00000020754.2 ENSMUST00000020754.3 ENSMUST00000020754.4 ENSMUST00000020754.5 ENSMUST00000020754.6 ENSMUST00000020754.7 ENSMUST00000020754.8 ENSMUST00000020754.9 NM_025740 Q8C6E0 Q9CWQ4 uc007igu.1 uc007igu.2 uc007igu.3 May act as an effector for ARL3. Interacts with ARL3. Q8C6E0; Q9WUL7: Arl3; NbExp=5; IntAct=EBI-16180842, EBI-6860857; Nucleus Cytoplasm Cell projection, cilium, flagellum Belongs to the CFAP36 family. protein binding nucleus cytoplasm cilium biological_process motile cilium ciliary transition zone cell projection protein N-terminus binding ciliary base uc007igu.1 uc007igu.2 uc007igu.3 
ENSMUST00000020755.12 Ppp4r3b ENSMUST00000020755.12 protein phosphatase 4 regulatory subunit 3B, transcript variant 7 (from RefSeq NR_156485.1) ENSMUST00000020755.1 ENSMUST00000020755.10 ENSMUST00000020755.11 ENSMUST00000020755.2 ENSMUST00000020755.3 ENSMUST00000020755.4 ENSMUST00000020755.5 ENSMUST00000020755.6 ENSMUST00000020755.7 ENSMUST00000020755.8 ENSMUST00000020755.9 Kiaa1387 NR_156485 P4R3B_MOUSE Pp4r3b Ppp4r3b Q3V0E4 Q5M6V9 Q5RJC0 Q5RJC1 Q6ZPS5 Q8BTK2 Q8BY94 Q8BYY0 Q922R5 Smek2 uc007igs.1 uc007igs.2 uc007igs.3 uc007igs.4 Regulatory subunit of serine/threonine-protein phosphatase 4 (PP4). May regulate the activity of PPP4C at centrosomal microtubule organizing centers (By similarity). Serine/threonine-protein phosphatase 4 (PP4) occurs in different assemblies of the catalytic and one or more regulatory subunits. Component of the PP4 complex PPP4C-PPP4R2-PPP4R3B. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Note=In interphase localized in the cytoplasm and (with higher levels) the nucleus. During metaphase located in pericentriolar regions. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q922R5-1; Sequence=Displayed; Name=2; IsoId=Q922R5-2; Sequence=VSP_021264, VSP_021265; Belongs to the SMEK family. Sequence=BAC98154.1; Type=Erroneous initiation; Evidence=; protein binding nucleus nucleoplasm cytoplasm centrosome microtubule organizing center cytoskeleton protein dephosphorylation nuclear speck regulation of lipid metabolic process protein phosphatase 4 complex positive regulation of gluconeogenesis uc007igs.1 uc007igs.2 uc007igs.3 uc007igs.4 
ENSMUST00000020756.9 Pnpt1 ENSMUST00000020756.9 polyribonucleotide nucleotidyltransferase 1, transcript variant 2 (from RefSeq NR_157297.1) ENSMUST00000020756.1 ENSMUST00000020756.2 ENSMUST00000020756.3 ENSMUST00000020756.4 ENSMUST00000020756.5 ENSMUST00000020756.6 ENSMUST00000020756.7 ENSMUST00000020756.8 NR_157297 PNPT1_MOUSE Pnpase Q3UEP9 Q810U7 Q812B3 Q8K1R3 Q8R2U3 Q9DC52 uc007igp.1 uc007igp.2 uc007igp.3 RNA-binding protein implicated in numerous RNA metabolic processes. Catalyzes the phosphorolysis of single-stranded polyribonucleotides processively in the 3'-to-5' direction. Mitochondrial intermembrane factor with RNA-processing exoribonulease activity. Component of the mitochondrial degradosome (mtEXO) complex, that degrades 3' overhang double-stranded RNA with a 3'-to-5' directionality in an ATP-dependent manner. Involved in the degradation of non-coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (By similarity). Required for correct processing and polyadenylation of mitochondrial mRNAs. Plays a role as a cytoplasmic RNA import factor that mediates the translocation of small RNA components, like the 5S RNA, the RNA subunit of ribonuclease P and the mitochondrial RNA-processing (MRP) RNA, into the mitochondrial matrix. Plays a role in mitochondrial morphogenesis and respiration; regulates the expression of the electron transport chain (ETC) components at the mRNA and protein levels. In the cytoplasm, shows a 3'-to-5' exoribonuclease mediating mRNA degradation activity; degrades c-myc mRNA upon treatment with IFNB1/IFN-beta, resulting in a growth arrest in melanoma cells. Regulates the stability of specific mature miRNAs in melanoma cells; specifically and selectively degrades miR-221, preferentially. Also plays a role in RNA cell surveillance by cleaning up oxidized RNAs. Binds to the RNA subunit of ribonuclease P, MRP RNA and miR-221 microRNA. Reaction=phosphate + RNA(n+1) = a ribonucleoside 5'-diphosphate + RNA(n); Xref=Rhea:RHEA:22096, Rhea:RHEA-COMP:14527, Rhea:RHEA- COMP:17342, ChEBI:CHEBI:43474, ChEBI:CHEBI:57930, ChEBI:CHEBI:140395; EC=2.7.7.8; Homotrimer; in free form. Homooligomer. Component of the mitochondrial degradosome (mtEXO) complex which is a heteropentamer containing 2 copies of SUPV3L1 and 3 copies of PNPT1. As part of the mitochondrial degradosome complex, interacts with GRSF1 in an RNA- dependent manner; the interaction enhances the activity of the complex. Interacts with TCL1A; the interaction has no effect on PNPT1 exonuclease activity. Cytoplasm Mitochondrion matrix Mitochondrion intermembrane space ; Peripheral membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8K1R3-1; Sequence=Displayed; Name=2; IsoId=Q8K1R3-2; Sequence=VSP_013639, VSP_013640; Mice show alteration in the mechanisms of polycistronic mtRNAs processing in mitochondria, resulting in fewer mature mtRNAs and a reduction in electron transport chain (ETC) components formation. Belongs to the polyribonucleotide nucleotidyltransferase family. Sequence=AAO33354.1; Type=Frameshift; Evidence=; 3'-5'-exoribonuclease activity mitochondrial RNA catabolic process mitochondrial mRNA catabolic process positive regulation of mitochondrial RNA catabolic process mitochondrial RNA processing mitochondrial RNA 5'-end processing mitochondrial RNA 3'-end processing nucleic acid binding RNA binding nuclease activity exonuclease activity polyribonucleotide nucleotidyltransferase activity nucleus cytoplasm mitochondrion mitochondrial intermembrane space endoplasmic reticulum membrane cytosol RNA processing mRNA processing RNA catabolic process mRNA catabolic process poly(U) RNA binding membrane transferase activity nucleotidyltransferase activity hydrolase activity poly(G) binding cellular response to oxidative stress miRNA binding cellular response to interferon-beta RNA import into mitochondrion rRNA import into mitochondrion polysomal ribosome regulation of cellular respiration RNA polyadenylation mitochondrial degradosome negative regulation of growth protein homooligomerization response to cAMP response to growth hormone positive regulation of mRNA catabolic process protein homotrimerization mitochondrion morphogenesis nuclear polyadenylation-dependent mRNA catabolic process mitotic cell cycle arrest nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, exonucleolytic mitochondrial mRNA polyadenylation liver regeneration positive regulation of miRNA catabolic process regulation of cellular senescence uc007igp.1 uc007igp.2 uc007igp.3 
ENSMUST00000020759.12 Efemp1 ENSMUST00000020759.12 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 (from RefSeq NM_146015.2) ENSMUST00000020759.1 ENSMUST00000020759.10 ENSMUST00000020759.11 ENSMUST00000020759.2 ENSMUST00000020759.3 ENSMUST00000020759.4 ENSMUST00000020759.5 ENSMUST00000020759.6 ENSMUST00000020759.7 ENSMUST00000020759.8 ENSMUST00000020759.9 FBLN3_MOUSE Fbln3 NM_146015 Q6Y3N6 Q8BPB5 uc007ign.1 uc007ign.2 uc007ign.3 uc007ign.4 Binds EGFR, the EGF receptor, inducing EGFR autophosphorylation and the activation of downstream signaling pathways. May play a role in cell adhesion and migration. May function as a negative regulator of chondrocyte differentiation. In the olfactory epithelium, it may regulate glial cell migration, differentiation and the ability of glial cells to support neuronal neurite outgrowth (By similarity). Interacts with ECM1. Interacts with TIMP3. Secreted, extracellular space Secreted, extracellular space, extracellular matrix Note=Localizes to the lamina propria underneath the olfactory epithelium. Mice are viable and have no overt phenotype at birth. However, they exhibit reduced reproductivity and an early onset of aging-associated phenotypes including reduced lifespan, decreased body mass, lordokyphosis, reduced hair growth and generalized fat, muscle and organ atrophy. They also display multiple hernias associated with a reduction of elastic fibers in facia, the thin layer of connective tissue maintaining and protecting structures throughout the body. However, there is no apparent macular degeneration. Belongs to the fibulin family. epidermal growth factor-activated receptor activity epidermal growth factor receptor binding extracellular matrix structural constituent calcium ion binding extracellular region basement membrane extracellular space cytoplasm regulation of transcription, DNA-templated epidermal growth factor receptor signaling pathway growth factor activity positive regulation of cell proliferation negative regulation of neuron projection development peptidyl-tyrosine phosphorylation positive regulation of cell projection organization negative regulation of chondrocyte differentiation camera-type eye development embryonic eye morphogenesis post-embryonic eye morphogenesis regulation of glial cell migration uc007ign.1 uc007ign.2 uc007ign.3 uc007ign.4 
ENSMUST00000020767.4 Polm ENSMUST00000020767.4 polymerase (DNA directed), mu (from RefSeq NM_017401.2) DPOLM_MOUSE ENSMUST00000020767.1 ENSMUST00000020767.2 ENSMUST00000020767.3 G5E840 NM_017401 Q9JIW4 Q9JJW9 polmu uc007hxf.1 uc007hxf.2 uc007hxf.3 uc007hxf.4 Gap-filling polymerase involved in repair of DNA double- strand breaks by non-homologous end joining (NHEJ). Participates in immunoglobulin (Ig) light chain gene rearrangement in V(D)J recombination. Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1); Xref=Rhea:RHEA:22508, Rhea:RHEA-COMP:17339, Rhea:RHEA-COMP:17340, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:173112; EC=2.7.7.7; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Nucleus DPOLM has a reduced ability to distinguish dNTP and rNTP as substrates, and elongates them on DNA primer strand with a similar efficiency. It is able to polymerize nucleotides on RNA primer strands (By similarity). Belongs to the DNA polymerase type-X family. DNA binding DNA-directed DNA polymerase activity nucleus DNA repair base-excision repair double-strand break repair via nonhomologous end joining DNA recombination cellular response to DNA damage stimulus somatic hypermutation of immunoglobulin genes transferase activity nucleotidyltransferase activity B cell differentiation DNA polymerase activity metal ion binding DNA biosynthetic process uc007hxf.1 uc007hxf.2 uc007hxf.3 uc007hxf.4 
ENSMUST00000020768.4 Pgam2 ENSMUST00000020768.4 phosphoglycerate mutase 2 (from RefSeq NM_018870.3) ENSMUST00000020768.1 ENSMUST00000020768.2 ENSMUST00000020768.3 NM_018870 Pgam2 Q5NCI4 Q5NCI4_MOUSE uc007hxe.1 uc007hxe.2 uc007hxe.3 uc007hxe.4 Reaction=(2R)-2-phosphoglycerate = (2R)-3-phosphoglycerate; Xref=Rhea:RHEA:15901, ChEBI:CHEBI:58272, ChEBI:CHEBI:58289; EC=5.4.2.11; Evidence=; Reaction=(2R)-3-phospho-glyceroyl phosphate = (2R)-2,3- bisphosphoglycerate + H(+); Xref=Rhea:RHEA:17765, ChEBI:CHEBI:15378, ChEBI:CHEBI:57604, ChEBI:CHEBI:58248; EC=5.4.2.4; Evidence= Belongs to the phosphoglycerate mutase family. BPG- dependent PGAM subfamily. catalytic activity bisphosphoglycerate mutase activity phosphoglycerate mutase activity nucleus cytosol gluconeogenesis glycolytic process striated muscle contraction spermatogenesis response to inorganic substance isomerase activity intramolecular transferase activity, phosphotransferases 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity response to mercury ion cofactor binding uc007hxe.1 uc007hxe.2 uc007hxe.3 uc007hxe.4 
ENSMUST00000020775.9 Dynll2 ENSMUST00000020775.9 dynein light chain LC8-type 2, transcript variant 1 (from RefSeq NM_026556.4) A7M7R8 DYL2_MOUSE Dlc2 ENSMUST00000020775.1 ENSMUST00000020775.2 ENSMUST00000020775.3 ENSMUST00000020775.4 ENSMUST00000020775.5 ENSMUST00000020775.6 ENSMUST00000020775.7 ENSMUST00000020775.8 NM_026556 Q3TFB4 Q9D0M5 uc007kva.1 uc007kva.2 uc007kva.3 Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. May play a role in changing or maintaining the spatial distribution of cytoskeletal structures (By similarity). Homodimer (By similarity). The cytoplasmic dynein 1 complex consists of two catalytic heavy chains (HCs) and a number of non- catalytic subunits which present intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs); the composition seems to vary in respect to the IC, LIC and LC composition. The heavy chain homodimer serves as a scaffold for the probable homodimeric assembly of the respective non-catalytic subunits. Dynein ICs and LICs bind directly to the HC dimer and the LCs assemble on the IC dimer (PubMed:11546872). Interacts with DYNC1I1 (PubMed:11148209). Interacts with BMF (PubMed:11546872). Component of the myosin V motor complex (PubMed:11546872). Interacts with BCAS1 (By similarity). Interacts with Basson/BSN (By similarity). Interacts with AMBRA1 (via TQT motifs); tethering AMBRA1 to the cytoskeleton (By similarity). Interacts with IQUB (PubMed:36417862). Cytoplasm, cytoskeleton Belongs to the dynein light chain family. motor activity protein binding cytoplasm centrosome cytoskeleton cytoplasmic dynein complex microtubule microtubule associated complex microtubule-based process postsynaptic density dynein complex myosin V complex protein homodimerization activity dynein intermediate chain binding protein heterodimerization activity dynein light intermediate chain binding scaffold protein binding postsynapse glutamatergic synapse positive regulation of ATP-dependent microtubule motor activity, plus-end-directed ATP-dependent microtubule motor activity, plus-end-directed uc007kva.1 uc007kva.2 uc007kva.3 
ENSMUST00000020776.5 Ccdc117 ENSMUST00000020776.5 coiled-coil domain containing 117 (from RefSeq NM_134033.2) CC117_MOUSE Ccdc117 ENSMUST00000020776.1 ENSMUST00000020776.2 ENSMUST00000020776.3 ENSMUST00000020776.4 NM_134033 Q6PB51 Q8K217 Q99LL1 uc007hwp.1 uc007hwp.2 uc007hwp.3 uc007hwp.4 uc007hwp.5 Facilitates DNA repair, cell cycle progression, and cell proliferation through its interaction with CIAO2B. Interacts with CIAO2B; the interaction is direct. Interacts with MMS19; the interaction is indirect. Cytoplasm, cytoskeleton, spindle Nucleus Note=Mitotic spindle. Firstly detected at 8.5 dpc in pharyngeal arch regions, particularly in the first arch, and in developing outflow tract (OFT) regions. Expression continued through 9.5 dpc in the cardiac outflow tract and atria, and in second heart field (SHF)- containing pharyngeal arch with additional expression in lower craniofacial regions. Also expressed in the developing outflow tract and SHF-associated pharyngeal mesoderm, with additional expression observed in pharyngeal endoderm, outflow tract endocardium and ventral neural tube populations. molecular_function cellular_component biological_process uc007hwp.1 uc007hwp.2 uc007hwp.3 uc007hwp.4 uc007hwp.5 
ENSMUST00000020779.11 Mpo ENSMUST00000020779.11 myeloperoxidase (from RefSeq NM_010824.2) ENSMUST00000020779.1 ENSMUST00000020779.10 ENSMUST00000020779.2 ENSMUST00000020779.3 ENSMUST00000020779.4 ENSMUST00000020779.5 ENSMUST00000020779.6 ENSMUST00000020779.7 ENSMUST00000020779.8 ENSMUST00000020779.9 NM_010824 P11247 PERM_MOUSE Q5NCP1 uc011ycc.1 uc011ycc.2 uc011ycc.3 Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids, primarily hypochlorous acid in physiologic situations, and other toxic intermediates that greatly enhance PMN microbicidal activity (PubMed:11593004). Mediates the proteolytic cleavage of alpha-1-microglobulin to form t-alpha-1-microglobulin, which potently inhibits oxidation of low density lipoprotein particles and limits vascular damage (By similarity). Reaction=chloride + H(+) + H2O2 = H2O + hypochlorous acid; Xref=Rhea:RHEA:28218, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16240, ChEBI:CHEBI:17996, ChEBI:CHEBI:24757; EC=1.11.2.2; Evidence=; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Note=Binds 1 Ca(2+) ion per monomer. ; Name=heme b; Xref=ChEBI:CHEBI:60344; Evidence=; Note=Binds 1 heme b (iron(II)-protoporphyrin IX) group covalently per monomer. ; Homodimer; disulfide-linked. Each monomer consists of a light and a heavy chain (By similarity). Lysosome. Belongs to the peroxidase family. XPO subfamily. response to yeast hypochlorous acid biosynthetic process respiratory burst involved in defense response peroxidase activity extracellular space nucleus cytoplasm mitochondrion lysosome defense response response to oxidative stress aging heparin binding response to mechanical stimulus oxidoreductase activity removal of superoxide radicals heme binding secretory granule response to food response to lipopolysaccharide low-density lipoprotein particle remodeling azurophil granule defense response to bacterium hydrogen peroxide catabolic process intracellular membrane-bounded organelle metal ion binding defense response to fungus oxidation-reduction process response to gold nanoparticle uc011ycc.1 uc011ycc.2 uc011ycc.3 
ENSMUST00000020794.6 Ska2 ENSMUST00000020794.6 spindle and kinetochore associated complex subunit 2 (from RefSeq NM_025377.3) B2KGY1 ENSMUST00000020794.1 ENSMUST00000020794.2 ENSMUST00000020794.3 ENSMUST00000020794.4 ENSMUST00000020794.5 Fam33a NM_025377 Q9CR46 SKA2_MOUSE uc007ktk.1 uc007ktk.2 uc007ktk.3 Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation. Required for timely anaphase onset during mitosis, when chromosomes undergo bipolar attachment on spindle microtubules leading to silencing of the spindle checkpoint. The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies. The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner. In the complex, it is required for SKA1 localization. Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules. Component of the SKA1 complex, composed of SKA1, SKA2 and SKA3. Forms a heterodimer with SKA1; the heterodimer interacting with SKA3. The core SKA1 complex is composed of 2 SKA1-SKA2 heterodimers, each heterodimer interacting with a molecule of the SKA3 homodimer. The core SKA1 complex associates with microtubules and forms oligomeric assemblies. Interacts directly with SKA1. Binds directly to microtubules; but with a much lower affinity than SKA1 in vivo (By similarity). Cytoplasm, cytoskeleton, spindle Chromosome, centromere, kinetochore Note=Localizes to the outer kinetochore and spindle microtubules during mitosis in a NDC80 complex-dependent manner. Localizes to both the mitotic spindle and kinetochore- associated proteins. Belongs to the SKA2 family. mitotic cell cycle chromosome, centromeric region kinetochore condensed chromosome kinetochore condensed chromosome outer kinetochore chromosome cytoplasm spindle cytoskeleton microtubule spindle microtubule cell cycle chromosome segregation microtubule binding regulation of microtubule polymerization or depolymerization cell division uc007ktk.1 uc007ktk.2 uc007ktk.3 
ENSMUST00000020801.14 Smg8 ENSMUST00000020801.14 SMG8 nonsense mediated mRNA decay factor (from RefSeq NM_024262.1) B2KGQ4 ENSMUST00000020801.1 ENSMUST00000020801.10 ENSMUST00000020801.11 ENSMUST00000020801.12 ENSMUST00000020801.13 ENSMUST00000020801.2 ENSMUST00000020801.3 ENSMUST00000020801.4 ENSMUST00000020801.5 ENSMUST00000020801.6 ENSMUST00000020801.7 ENSMUST00000020801.8 ENSMUST00000020801.9 NM_024262 Q8BS62 Q8BSP7 Q8VE18 Q9DBW6 SMG8_MOUSE uc007ktg.1 uc007ktg.2 uc007ktg.3 Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG9 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required to mediate the recruitment of SMG1 to the ribosome:SURF complex and to suppress SMG1 kinase activity until the ribosome:SURF complex locates the exon junction complex (EJC). Acts as a regulator of kinase activity (By similarity). Component of the SMG1C complex composed of SMG1, SMG8 and SMG9; the recruitment of SMG8 to SMG1 N-terminus induces a large conformational change in the SMG1 C-terminal head domain containing the catalytic domain. Forms heterodimers with SMG9; this assembly form may represent a SMG1C intermediate form (By similarity). Phosphorylated by SMG1. Belongs to the SMG8 family. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay molecular_function cellular_component regulation of protein kinase activity uc007ktg.1 uc007ktg.2 uc007ktg.3 
ENSMUST00000020804.8 Gdpd1 ENSMUST00000020804.8 glycerophosphodiester phosphodiesterase domain containing 1 (from RefSeq NM_025638.2) ENSMUST00000020804.1 ENSMUST00000020804.2 ENSMUST00000020804.3 ENSMUST00000020804.4 ENSMUST00000020804.5 ENSMUST00000020804.6 ENSMUST00000020804.7 GDPD1_MOUSE Gde4 Gdpd1 NM_025638 Q9CRY7 Q9CT14 Q9D4X7 uc007kte.1 uc007kte.2 uc007kte.3 uc007kte.4 Hydrolyzes lysoglycerophospholipids to produce lysophosphatidic acid (LPA) and the corresponding amines (PubMed:25528375, PubMed:25596343, PubMed:27637550). Shows a preference for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF), lysophosphatidylethanolamine (lyso-PE) and lysophosphatidylcholine (lyso-PC) (PubMed:25528375, PubMed:25596343, PubMed:27637550). May be involved in bioactive N-acylethanolamine biosynthesis from both N-acyl- lysoplasmenylethanolamin (N-acyl-lysoPlsEt) and N-acyl- lysophosphatidylethanolamin (N-acyl-lysoPE) (PubMed:25596343, PubMed:27637550). In addition, hydrolyzes glycerophospho-N- acylethanolamine to N-acylethanolamine (PubMed:25596343, PubMed:27637550). Does not display glycerophosphodiester phosphodiesterase activity, since it cannot hydrolyze either glycerophosphoinositol or glycerophosphocholine (PubMed:25528375). Reaction=1-hexadecanoyl-sn-glycero-3-phosphocholine + H2O = 1- hexadecanoyl-sn-glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:38975, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57518, ChEBI:CHEBI:72998; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38976; Evidence=; Reaction=1-hexadecanoyl-sn-glycero-3-phosphoethanolamine + H2O = 1- hexadecanoyl-sn-glycero-3-phosphate + ethanolamine + H(+); Xref=Rhea:RHEA:53172, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57518, ChEBI:CHEBI:57603, ChEBI:CHEBI:73004; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:53173; Evidence=; Reaction=H2O + N-hexadecanoyl-sn-glycero-3-phosphoethanolamine = H(+) + N-hexadecanoylethanolamine + sn-glycerol 3-phosphate; Xref=Rhea:RHEA:45436, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57597, ChEBI:CHEBI:71464, ChEBI:CHEBI:85226; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45437; Evidence=; Reaction=H2O + N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-1-(9Z-octadecenoyl)- sn-glycero-3-phosphoethanolamine = 1-(9Z-octadecenoyl)-sn-glycero-3- phosphate + H(+) + N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-ethanolamine; Xref=Rhea:RHEA:45544, ChEBI:CHEBI:2700, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:74544, ChEBI:CHEBI:85223; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45545; Evidence=; Reaction=H2O + N,1-di-(9Z-octadecenoyl)-sn-glycero-3- phosphoethanolamine = 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H(+) + N-(9Z-octadecenoyl) ethanolamine; Xref=Rhea:RHEA:56460, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:71466, ChEBI:CHEBI:74544, ChEBI:CHEBI:85222; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:56461; Evidence=; Reaction=H2O + N-hexadecanoyl-1-(9Z-octadecenoyl)-sn-glycero-3- phosphoethanolamine = 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H(+) + N-hexadecanoylethanolamine; Xref=Rhea:RHEA:53168, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:71464, ChEBI:CHEBI:74544, ChEBI:CHEBI:85217; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:53169; Evidence=; Reaction=1-O-alkyl-sn-glycero-3-phosphocholine + H2O = 1-O-alkyl-sn- glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:39927, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30909, ChEBI:CHEBI:58014; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39928; Evidence=; Reaction=1-O-hexadecyl-sn-glycero-3-phosphocholine + H2O = 1-O- hexadecyl-sn-glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:41143, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:64496, ChEBI:CHEBI:77580; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41144; Evidence=; Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = 1-(9Z- octadecenoyl)-sn-glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:38915, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28610, ChEBI:CHEBI:74544; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38916; Evidence=; Reaction=H2O + N,1-dihexadecanoyl-sn-glycero-3-phosphoethanolamine = 1- hexadecanoyl-sn-glycero-3-phosphate + H(+) + N- hexadecanoylethanolamine; Xref=Rhea:RHEA:45592, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57518, ChEBI:CHEBI:71464, ChEBI:CHEBI:85335; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45593; Evidence=; Reaction=1-O-(1Z-octadecenyl)-sn-glycero-3-phospho-(N-5Z,8Z,11Z,14Z- eicosatetraenoyl)-ethanolamine + H2O = 1-O-(1Z-octadecenyl)-sn- glycero-3-phosphate + H(+) + N-(5Z,8Z,11Z,14Z-eicosatetraenoyl)- ethanolamine; Xref=Rhea:RHEA:53192, ChEBI:CHEBI:2700, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:137016, ChEBI:CHEBI:137017; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:53193; Evidence=; Reaction=1-O-(1Z-octadecenyl)-sn-glycero-3-phospho-(N-9Z-octadecenoyl)- ethanolamine + H2O = 1-O-(1Z-octadecenyl)-sn-glycero-3-phosphate + H(+) + N-(9Z-octadecenoyl) ethanolamine; Xref=Rhea:RHEA:53188, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:71466, ChEBI:CHEBI:137010, ChEBI:CHEBI:137017; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:53189; Evidence=; Reaction=1-O-(1Z-octadecenyl)-sn-glycero-3-phospho-N-hexadecanoyl- ethanolamine + H2O = 1-O-(1Z-octadecenyl)-sn-glycero-3-phosphate + H(+) + N-hexadecanoylethanolamine; Xref=Rhea:RHEA:53184, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:71464, ChEBI:CHEBI:137009, ChEBI:CHEBI:137017; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:53185; Evidence=; Lysophospholipase D activity is increased by magnesium and manganese and inhibited by calcium in a concentration dependent manner (By similarity). Loss of lysophospholipase D activity by addition of EDTA (PubMed:25596343). Kinetic parameters: KM=1.0 mM for lysophosphatidylcholine (lyso-PC) ; KM=0.32 mM for 1-O-alkyl-sn-glycero-3-phosphocholine (lyso-PAF) ; Note=kcat is 0.032 sec(-1) with lysophosphatidylcholine as substrate. kcat is 0.077 sec(-1) with 1-O-alkyl-sn-glycero-3-phosphocholine as substrate. ; pH dependence: Optimum pH is 7.4. ; Cytoplasm Membrane ; Multi-pass membrane protein Cytoplasm, perinuclear region Endoplasmic reticulum Note=Concentrated at the perinuclear region and the cell periphery. Widely expressed (PubMed:25528375, PubMed:25596343). Up-regulated in white adipose tissue of obese mice. Belongs to the glycerophosphoryl diester phosphodiesterase family. Sequence=BAB27650.1; Type=Frameshift; Evidence=; lysophospholipase activity cytoplasm endoplasmic reticulum membrane lipid metabolic process phospholipid metabolic process phosphoric diester hydrolase activity membrane integral component of membrane hydrolase activity glycerophospholipid catabolic process metal ion binding alkylglycerophosphoethanolamine phosphodiesterase activity perinuclear region of cytoplasm N-acylethanolamine metabolic process uc007kte.1 uc007kte.2 uc007kte.3 uc007kte.4 
ENSMUST00000020820.2 Mrpl22 ENSMUST00000020820.2 mitochondrial ribosomal protein L22, transcript variant 2 (from RefSeq NR_166467.1) ENSMUST00000020820.1 NR_166467 Q8BK04 Q8BU88 RM22_MOUSE uc007jap.1 uc007jap.2 uc007jap.3 uc007jap.4 uc007jap.5 uc007jap.6 Component of the mitochondrial ribosome large subunit (39S) which comprises a 16S rRNA and about 50 distinct proteins. Mitochondrion Belongs to the universal ribosomal protein uL22 family. structural constituent of ribosome mitochondrion mitochondrial large ribosomal subunit ribosome translation large ribosomal subunit ribosome assembly uc007jap.1 uc007jap.2 uc007jap.3 uc007jap.4 uc007jap.5 uc007jap.6 
ENSMUST00000020822.12 Cnot8 ENSMUST00000020822.12 CCR4-NOT transcription complex, subunit 8, transcript variant 1 (from RefSeq NM_026949.5) CNOT8_MOUSE ENSMUST00000020822.1 ENSMUST00000020822.10 ENSMUST00000020822.11 ENSMUST00000020822.2 ENSMUST00000020822.3 ENSMUST00000020822.4 ENSMUST00000020822.5 ENSMUST00000020822.6 ENSMUST00000020822.7 ENSMUST00000020822.8 ENSMUST00000020822.9 NM_026949 Q3U532 Q9D8X5 uc007jaj.1 uc007jaj.2 Has 3'-5' poly(A) exoribonuclease activity for synthetic poly(A) RNA substrate. Its function seems to be partially redundant with that of CNOT7. Catalytic component of the CCR4-NOT complex which is linked to various cellular processes including bulk mRNA degradation, miRNA-mediated repression, translational repression during translational initiation and general transcription regulation. During miRNA-mediated repression the complex seems also to act as translational repressor during translational initiation. Additional complex functions may be a consequence of its influence on mRNA expression. Associates with members of the BTG family such as TOB1 and BTG2 and is required for their anti-proliferative activity. Reaction=Exonucleolytic cleavage of poly(A) to 5'-AMP.; EC=3.1.13.4; Component of the CCR4-NOT complex; distinct complexes seem to exist that differ in the participation of probably mutually exclusive catalytic subunits; the complex contains two deadenylase subunits, CNOT6 or CNOT6L, and CNOT7 or CNOT8. In the complex interacts directly with CNOT1. Interacts with BTG1, BTG2 and TOB1 (By similarity). Interacts with BTG4 (PubMed:27065194). Q9D8X5; Q04211: Btg2; NbExp=3; IntAct=EBI-16204625, EBI-7847081; Cytoplasm Nucleus Expressed in embryonic stem (ES) cells. Belongs to the CAF1 family. 3'-5'-exoribonuclease activity P-body nucleic acid binding RNA binding nuclease activity exonuclease activity poly(A)-specific ribonuclease activity nucleus cytoplasm transcription, DNA-templated regulation of translation positive regulation of cell proliferation hydrolase activity negative regulation of translation CCR4-NOT complex CCR4-NOT core complex gene silencing by RNA exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay metal ion binding positive regulation of mRNA catabolic process nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, exonucleolytic uc007jaj.1 uc007jaj.2 
ENSMUST00000020826.6 Sap30l ENSMUST00000020826.6 SAP30-like, transcript variant 1 (from RefSeq NM_001081168.2) ENSMUST00000020826.1 ENSMUST00000020826.2 ENSMUST00000020826.3 ENSMUST00000020826.4 ENSMUST00000020826.5 NM_001081168 Q504M9 Q5SQF8 Q9CUZ7 SP30L_MOUSE uc007jae.1 uc007jae.2 uc007jae.3 Functions as a transcription repressor, probably via its interaction with histone deacetylase complexes. Involved in the functional recruitment of the class 1 Sin3-histone deacetylase complex (HDAC) to the nucleolus. Binds DNA, apparently without sequence- specificity, and bends bound double-stranded DNA. Binds phosphoinositol phosphates (phosphoinositol 3-phosphate, phosphoinositol 4-phosphate and phosphoinositol 5-phosphate) via the same basic sequence motif that mediates DNA binding and nuclear import. Interacts with components of the histone deacetylase complex SIN3A, HDAC1 and HDAC2. Binds histones and nucleosomes. Interacts with FEZ1. Nucleus, nucleolus The zinc-finger domain mediates direct interaction with DNA and phosphoinositol phosphates (phosphoinositol 3-phosphate, phosphoinositol 4-phosphate and phosphoinositol 5-phosphate). In vitro oxydation causes reversible disulfide bond formation between Cys residues in the zinc-finger domain and reversible loss of zinc ion binding. Belongs to the SAP30 family. Sequence=AAH94930.1; Type=Erroneous initiation; Evidence=; histone deacetylase complex negative regulation of transcription from RNA polymerase II promoter DNA binding histone deacetylase activity nucleus nucleolus regulation of transcription, DNA-templated zinc ion binding lipid binding phosphatidylinositol-5-phosphate binding histone deacetylation nucleosome binding phosphatidylinositol-3-phosphate binding histone binding non-sequence-specific DNA binding, bending metal ion binding phosphatidylinositol-4-phosphate binding uc007jae.1 uc007jae.2 uc007jae.3 
ENSMUST00000020827.7 Rnft1 ENSMUST00000020827.7 ring finger protein, transmembrane 1 (from RefSeq NM_029788.5) ENSMUST00000020827.1 ENSMUST00000020827.2 ENSMUST00000020827.3 ENSMUST00000020827.4 ENSMUST00000020827.5 ENSMUST00000020827.6 NM_029788 Q3U649 Q80X62 Q9DCN7 RNFT1_MOUSE uc007ksl.1 uc007ksl.2 uc007ksl.3 E3 ubiquitin-protein ligase that acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation. Protects cells from ER stress-induced apoptosis. Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Protein modification; protein ubiquitination. Early endosome membrane ; Multi-pass membrane protein Predominantly expressed in testis. Expression in testis already detected at postnatal day 1 (P1), progressively increases with adult levels reached at P20. endosome endoplasmic reticulum membrane integral component of membrane protein ubiquitination transferase activity early endosome membrane ubiquitin binding metal ion binding protein autoubiquitination ubiquitin protein ligase activity positive regulation of ERAD pathway uc007ksl.1 uc007ksl.2 uc007ksl.3 
ENSMUST00000020831.13 Fam114a2 ENSMUST00000020831.13 family with sequence similarity 114, member A2, transcript variant 2 (from RefSeq NM_026342.3) ENSMUST00000020831.1 ENSMUST00000020831.10 ENSMUST00000020831.11 ENSMUST00000020831.12 ENSMUST00000020831.2 ENSMUST00000020831.3 ENSMUST00000020831.4 ENSMUST00000020831.5 ENSMUST00000020831.6 ENSMUST00000020831.7 ENSMUST00000020831.8 ENSMUST00000020831.9 F1142_MOUSE NM_026342 Q3UE42 Q5QNR1 Q8VE88 Q9D310 uc007izv.1 uc007izv.2 uc007izv.3 uc007izv.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8VE88-1; Sequence=Displayed; Name=2; IsoId=Q8VE88-2; Sequence=VSP_022796; Belongs to the FAM114 family. molecular_function cellular_component biological_process uc007izv.1 uc007izv.2 uc007izv.3 uc007izv.4 
ENSMUST00000020835.16 Ppm1d ENSMUST00000020835.16 protein phosphatase 1D magnesium-dependent, delta isoform (from RefSeq NM_016910.3) B1B0B0 ENSMUST00000020835.1 ENSMUST00000020835.10 ENSMUST00000020835.11 ENSMUST00000020835.12 ENSMUST00000020835.13 ENSMUST00000020835.14 ENSMUST00000020835.15 ENSMUST00000020835.2 ENSMUST00000020835.3 ENSMUST00000020835.4 ENSMUST00000020835.5 ENSMUST00000020835.6 ENSMUST00000020835.7 ENSMUST00000020835.8 ENSMUST00000020835.9 NM_016910 PPM1D_MOUSE Q9QZ67 Wip1 uc007krl.1 uc007krl.2 uc007krl.3 uc007krl.4 Involved in the negative regulation of p53 expression. Required for the relief of p53-dependent checkpoint mediated cell cycle arrest. Binds to and dephosphorylates 'Ser-15' of TP53 and 'Ser-345' of CHEK1 which contributes to the functional inactivation of these proteins. Mediates MAPK14 dephosphorylation and inactivation (By similarity). Is also an important regulator of global heterochromatin silencing and critical in maintaining genome integrity (PubMed:24135283). Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16; Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA- COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 magnesium or manganese ions per subunit. ; Interacts with CHEK1 and CHEK2; dephosphorylates them. Interacts with MAPK14. Nucleus Cytoplasm, cytosol Ubiquitously expressed. By p53. Knockout mice show defective spermatogenesis. On histological sections, testes display an abnormal architecture and considerably narrower seminiferous tubules than those of wild-type mice, accompanied by changes in heterochromatin structure and globally altered gene expression in germ cells, and depletion of the most differentiated germ cell types. Belongs to the PP2C family. G2/M transition of mitotic cell cycle catalytic activity phosphoprotein phosphatase activity protein serine/threonine phosphatase activity magnesium-dependent protein serine/threonine phosphatase activity nucleus cytoplasm cytosol DNA methylation chromatin silencing protein dephosphorylation cell cycle cellular response to starvation response to bacterium hydrolase activity DNA damage response, signal transduction by p53 class mediator peptidyl-threonine dephosphorylation cation binding negative regulation of gene expression, epigenetic metal ion binding mitogen-activated protein kinase binding uc007krl.1 uc007krl.2 uc007krl.3 uc007krl.4 
ENSMUST00000020846.8 Srebf1 ENSMUST00000020846.8 sterol regulatory element binding transcription factor 1, transcript variant 1 (from RefSeq NM_011480.4) ENSMUST00000020846.1 ENSMUST00000020846.2 ENSMUST00000020846.3 ENSMUST00000020846.4 ENSMUST00000020846.5 ENSMUST00000020846.6 ENSMUST00000020846.7 NM_011480 Q3U458 Q3UDJ3 Q5SRX5 Q8C733 Q99JK7 Q9WTN3 SRBP1_MOUSE Srebf1 Srebp1 uc007jfn.1 uc007jfn.2 uc007jfn.3 uc007jfn.4 This gene encodes a transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a decamer flanking the low density lipoprotein receptor gene and some genes involved in sterol biosynthesis. The protein is synthesized as a precursor that is attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription by binding to the SRE1. Sterols inhibit the cleavage of the precursor, and the mature nuclear form is rapidly catabolized, thereby reducing transcription. The protein is a member of the basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor family. Alternatively spliced transcript variants have been characterized for this gene. [provided by RefSeq, Nov 2017]. [Sterol regulatory element-binding protein 1]: Precursor of the transcription factor form (Processed sterol regulatory element- binding protein 1), which is embedded in the endoplasmic reticulum membrane (PubMed:11782483, PubMed:12855691, PubMed:19244231). Low sterol concentrations promote processing of this form, releasing the transcription factor form that translocates into the nucleus and activates transcription of genes involved in cholesterol biosynthesis and lipid homeostasis (PubMed:11782483, PubMed:12855691, PubMed:16100574, PubMed:19244231). [Processed sterol regulatory element-binding protein 1]: Key transcription factor that regulates expression of genes involved in cholesterol biosynthesis and lipid homeostasis (PubMed:19244231, PubMed:17290224, PubMed:9329978, PubMed:9784493, PubMed:21459323). Binds to the sterol regulatory element 1 (SRE-1) (5'-ATCACCCCAC-3') (By similarity). Has dual sequence specificity binding to both an E-box motif (5'-ATCACGTGA-3') and to SRE-1 (5'-ATCACCCCAC-3') (By similarity). Regulates the promoters of genes involved in cholesterol biosynthesis and the LDL receptor (LDLR) pathway of sterol regulation (PubMed:19244231, PubMed:17290224, PubMed:9329978, PubMed:9784493, PubMed:21459323). [Isoform SREBP-1A]: Isoform expressed only in select tissues, which has higher transcriptional activity compared to SREBP-1C (PubMed:12855691, PubMed:21531336). Able to stimulate both lipogenic and cholesterogenic gene expression (PubMed:8833906). Has a role in the nutritional regulation of fatty acids and triglycerides in lipogenic organs such as the liver (PubMed:9062341, PubMed:12855691). Required for innate immune response in macrophages by regulating lipid metabolism (PubMed:21531336). [Isoform SREBP-1C]: Predominant isoform expressed in most tissues, which has weaker transcriptional activity compared to isoform SREBP-1A (PubMed:12855691, PubMed:21531336). Primarily controls expression of lipogenic gene (PubMed:8833906, PubMed:9062341). Strongly activates global lipid synthesis in rapidly growing cells (PubMed:8833906, PubMed:9062341). Activation by cleavage is down-regulated upon activation of SIRT3-dependent PRKAA1/AMPK-alpha signaling cascade which leads to inhibition of ATP-consuming lipogenesis to restore cellular energy balance. [Sterol regulatory element-binding protein 1]: Forms a tight complex with SCAP, the SCAP-SREBP complex, in the endoplasmic reticulum membrane. [Processed sterol regulatory element-binding protein 1]: Efficient DNA binding of the soluble transcription factor fragment requires dimerization with another bHLH protein (By similarity). Interacts with CEBPA, the interaction produces a transcriptional synergy (PubMed:17290224). Interacts with LMNA (PubMed:11929849). Q9WTN3; Q923E4: Sirt1; NbExp=2; IntAct=EBI-5273743, EBI-1802585; [Sterol regulatory element-binding protein 1]: Endoplasmic reticulum membrane ; Multi- pass membrane protein Golgi apparatus membrane ; Multi-pass membrane protein Cytoplasmic vesicle, COPII-coated vesicle membrane ; Multi-pass membrane protein Note=At high sterol concentrations, the SCAP-SREBP is retained in the endoplasmic reticulum (PubMed:21459323). Low sterol concentrations promote recruitment into COPII-coated vesicles and transport of the SCAP-SREBP to the Golgi, where it is processed (PubMed:21459323). [Processed sterol regulatory element-binding protein 1]: Nucleus Event=Alternative splicing; Named isoforms=4; Comment=Additional isoforms seem to exist.; Name=SREBP-1A IsoId=Q9WTN3-1; Sequence=Displayed; Name=SREBP-1A-W42; IsoId=Q9WTN3-2; Sequence=VSP_002152; Name=SREBP-1C ; IsoId=Q9WTN3-3; Sequence=VSP_002151; Name=SREBP-1C-W42; IsoId=Q9WTN3-4; Sequence=VSP_002151, VSP_002152; [Isoform SREBP-1C]: Predominant isoform expressed in most tissues (PubMed:21531336). Predominates in liver, adrenal gland, brain and adipose tissue (PubMed:9062340). Also found in kidney, thymus, testis, muscle, jejunum, and ileum (PubMed:9062340). [Isoform SREBP-1A]: Expressed only in select tissues, such as intestinal epithelial, heart, macrophage and bone marrow dendritic cells (PubMed:9062340, PubMed:21531336). Also found in kidney, thymus, testis, muscle, jejunum, and ileum (PubMed:9062340). [Isoform SREBP-1C]: Expressed in a circadian manner in the liver with a peak at ZT16 (PubMed:19786558). Up-regulated by endocannabinoid anandamide/AEA. The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors. [Sterol regulatory element-binding protein 1]: Processed in the Golgi apparatus, releasing the protein from the membrane. At low cholesterol the SCAP-SREBP complex is recruited into COPII vesicles for export from the endoplasmic reticulum. In the Golgi, complex SREBPs are cleaved sequentially by site-1 (MBTPS1, S1P) and site-2 (MBTPS2, S2P) proteases (By similarity). The first cleavage by site-1 protease occurs within the luminal loop, the second cleavage by site-2 protease occurs within the first transmembrane domain, releasing the transcription factor from the Golgi membrane (By similarity). Phosphorylated by AMPK, leading to suppress protein processing and nuclear translocation, and repress target gene expression. Phosphorylation at Ser-389 by SIK1 represses activity possibly by inhibiting DNA-binding. [Processed sterol regulatory element-binding protein 1]: Ubiquitinated; the nuclear form has a rapid turnover and is rapidly ubiquitinated and degraded by the proteasome in the nucleus. Mice show high embryonic lethality around day 11 dpc (PubMed:9329978). Surviving mice show a 2-3-fold increase in processed Srebpf2 protein in liver nuclei, 3-fold increase in cholesterol synthesis and 50% increase in cholesterol content of the liver (PubMed:9329978). [Isoform SREBP-1A]: Mice lacking isoform SREBP-1A are resistant to pro-inflammatory toxic shock (PubMed:21531336). Macrophages challenged with bacterial lipopolysaccharide fail to activate lipogenesis as well as hallmarks of inflammasome functions, activation of caspase-1 and secretion of IL1B (PubMed:21531336). [Isoform SREBP-1C]: Mice lacking isoform SREBP-1C show a lack of up-regulation of several lipogenic enzymes in response to high insulin or LXR activation. Belongs to the SREBP family. negative regulation of transcription from RNA polymerase II promoter Golgi membrane RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding regulation of heart rate by chemical signal DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus regulation of transcription, DNA-templated lipid metabolic process aging circadian rhythm steroid metabolic process cholesterol metabolic process insulin receptor signaling pathway lipid biosynthetic process cellular response to starvation response to glucose positive regulation of triglyceride biosynthetic process ER to Golgi transport vesicle membrane response to organic cyclic compound membrane integral component of membrane regulation of fatty acid metabolic process protein kinase binding lung development intracellular receptor signaling pathway positive regulation of histone deacetylation cytoplasmic vesicle regulation of protein stability response to food response to retinoic acid response to progesterone sterol response element binding cellular response to insulin stimulus macromolecular complex response to glucagon response to lipid response to drug mRNA transcription from RNA polymerase II promoter intracellular membrane-bounded organelle response to peptide hormone sequence-specific DNA binding transcription regulatory region DNA binding macromolecular complex binding fat cell differentiation positive regulation of cholesterol biosynthetic process positive regulation of fatty acid biosynthetic process positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter negative regulation of insulin secretion protein dimerization activity regulation of insulin secretion response to cAMP response to fatty acid cellular response to fatty acid positive regulation of pri-miRNA transcription from RNA polymerase II promoter regulation of mitophagy regulation of protein targeting to mitochondrion uc007jfn.1 uc007jfn.2 uc007jfn.3 uc007jfn.4 
ENSMUST00000020849.9 Tom1l1 ENSMUST00000020849.9 target of myb1-like 1 (chicken), transcript variant 1 (from RefSeq NM_001357543.1) B0QZV4 ENSMUST00000020849.1 ENSMUST00000020849.2 ENSMUST00000020849.3 ENSMUST00000020849.4 ENSMUST00000020849.5 ENSMUST00000020849.6 ENSMUST00000020849.7 ENSMUST00000020849.8 NM_001357543 Q5SRC7 Q5SRC9 Q923U0 Q99KE0 Q9D6Y5 Srcasm TM1L1_MOUSE uc007kxc.1 uc007kxc.2 uc007kxc.3 Probable adapter protein involved in signaling pathways. Interacts with the SH2 and SH3 domains of various signaling proteins when it is phosphorylated. May promote FYN activation, possibly by disrupting intramolecular SH3-dependent interactions. Interacts with LYN (By similarity). Interacts with the SH2 and SH3 domains of FYN when phosphorylated. Also interacts with GRB2 and PIK3R1 when phosphorylated. Golgi apparatus, Golgi stack. Endosome membrane Cytoplasm Membrane ; Peripheral membrane protein ; Cytoplasmic side Note=A small proportion is membrane-associated. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q923U0-1; Sequence=Displayed; Name=2; IsoId=Q923U0-2; Sequence=VSP_003996; Name=3; IsoId=Q923U0-3; Sequence=VSP_003997; Strongly expressed in brain and kidney, expressed at intermediate levels skin and heart, and weakly expressed in thymus. Not expressed in liver and spleen. Phosphorylated on tyrosines by LYN (By similarity). Phosphorylated on tyrosines by FYN. Belongs to the TOM1 family. protein binding cytoplasm endosome Golgi apparatus Golgi stack cytosol intracellular protein transport signal transduction transmembrane receptor protein tyrosine kinase signaling pathway endosome membrane protein transport membrane SH3 domain binding protein kinase binding clathrin binding protein kinase activator activity positive regulation of protein autophosphorylation activation of protein kinase activity negative regulation of mitotic nuclear division uc007kxc.1 uc007kxc.2 uc007kxc.3 
ENSMUST00000020851.15 Cox11 ENSMUST00000020851.15 cytochrome c oxidase assembly protein 11, copper chaperone (from RefSeq NM_199008.2) COX11_MOUSE ENSMUST00000020851.1 ENSMUST00000020851.10 ENSMUST00000020851.11 ENSMUST00000020851.12 ENSMUST00000020851.13 ENSMUST00000020851.14 ENSMUST00000020851.2 ENSMUST00000020851.3 ENSMUST00000020851.4 ENSMUST00000020851.5 ENSMUST00000020851.6 ENSMUST00000020851.7 ENSMUST00000020851.8 ENSMUST00000020851.9 NM_199008 Q3UNX9 Q6P8I6 uc007kwz.1 uc007kwz.2 uc007kwz.3 Exerts its effect at some terminal stage of cytochrome c oxidase synthesis, probably by being involved in the insertion of the copper B into subunit I. Interacts with CNNM4/ACDP4. Interacts with RANBP2. Mitochondrion inner membrane ; Single-pass membrane protein ; Intermembrane side Belongs to the COX11/CtaG family. copper ion binding protein binding mitochondrion mitochondrial inner membrane membrane integral component of membrane integral component of mitochondrial inner membrane macromolecular complex negative regulation of glucokinase activity metal ion homeostasis uc007kwz.1 uc007kwz.2 uc007kwz.3 
ENSMUST00000020856.6 Bzw2 ENSMUST00000020856.6 basic leucine zipper and W2 domains 2 (from RefSeq NM_025840.3) 5MP1_MOUSE 5mp1 ENSMUST00000020856.1 ENSMUST00000020856.2 ENSMUST00000020856.3 ENSMUST00000020856.4 ENSMUST00000020856.5 NM_025840 Q91VK1 Q9D0N4 uc007njp.1 uc007njp.2 uc007njp.3 Translation initiation regulator which represses non-AUG initiated translation and repeat-associated non-AUG (RAN) initiated translation by acting as a competitive inhibitor of eukaryotic translation initiation factor 5 (EIF5) function (By similarity). Increases the accuracy of translation initiation by impeding EIF5- dependent translation from non-AUG codons by competing with it for interaction with EIF2S2 within the 43S pre-initiation complex (PIC) in an EIF3C-binding dependent manner (By similarity). Interacts with EIF3E, EIF2S2 and EIF3C. Cytoplasm Belongs to the BZW family. cytoplasm multicellular organism development nervous system development cell differentiation uc007njp.1 uc007njp.2 uc007njp.3 
ENSMUST00000020864.9 Pctp ENSMUST00000020864.9 phosphatidylcholine transfer protein, transcript variant 1 (from RefSeq NM_008796.3) ENSMUST00000020864.1 ENSMUST00000020864.2 ENSMUST00000020864.3 ENSMUST00000020864.4 ENSMUST00000020864.5 ENSMUST00000020864.6 ENSMUST00000020864.7 ENSMUST00000020864.8 NM_008796 Pctp Q5SV41 Q5SV41_MOUSE uc007kwl.1 uc007kwl.2 uc007kwl.3 uc007kwl.4 lipid binding uc007kwl.1 uc007kwl.2 uc007kwl.3 uc007kwl.4 
ENSMUST00000020877.9 Polr1f ENSMUST00000020877.9 RNA polymerase I subunit F (from RefSeq NM_172253.2) ENSMUST00000020877.1 ENSMUST00000020877.2 ENSMUST00000020877.3 ENSMUST00000020877.4 ENSMUST00000020877.5 ENSMUST00000020877.6 ENSMUST00000020877.7 ENSMUST00000020877.8 NM_172253 Polr1f Q3U6L1 Q78WZ7 Q8CEP7 Q9CS60 RPA43_MOUSE Twistnb uc007niu.1 uc007niu.2 uc007niu.3 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Through its association with RRN3/TIF-IA may be involved in recruitment of Pol I to rDNA promoters. Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits (By similarity). Interacts with RRN3/TIF-IA. Nucleus, nucleolus Widely expressed. Belongs to the eukaryotic RPA43 RNA polymerase subunit family. Sequence=BAC25502.1; Type=Frameshift; Evidence=; DNA-directed 5'-3' RNA polymerase activity nucleus nucleolus DNA-directed RNA polymerase I complex transcription, DNA-templated transcription from RNA polymerase I promoter cellular response to leukemia inhibitory factor RNA polymerase I activity uc007niu.1 uc007niu.2 uc007niu.3 
ENSMUST00000020878.8 Efcab10 ENSMUST00000020878.8 EF-hand calcium binding domain 10 (from RefSeq NM_029152.1) EFC10_MOUSE ENSMUST00000020878.1 ENSMUST00000020878.2 ENSMUST00000020878.3 ENSMUST00000020878.4 ENSMUST00000020878.5 ENSMUST00000020878.6 ENSMUST00000020878.7 NM_029152 Q9D581 uc007nit.1 uc007nit.2 uc007nit.3 uc007nit.4 molecular_function calcium ion binding cellular_component biological_process uc007nit.1 uc007nit.2 uc007nit.3 uc007nit.4 
ENSMUST00000020885.13 Sypl1 ENSMUST00000020885.13 synaptophysin like 1, transcript variant 2 (from RefSeq NM_198710.3) ENSMUST00000020885.1 ENSMUST00000020885.10 ENSMUST00000020885.11 ENSMUST00000020885.12 ENSMUST00000020885.2 ENSMUST00000020885.3 ENSMUST00000020885.4 ENSMUST00000020885.5 ENSMUST00000020885.6 ENSMUST00000020885.7 ENSMUST00000020885.8 ENSMUST00000020885.9 NM_198710 Q3TVX7 Q3TVX7_MOUSE Sypl Sypl1 uc007nii.1 uc007nii.2 uc007nii.3 uc007nii.4 Membrane ; Multi- pass membrane protein Belongs to the synaptophysin/synaptobrevin family. synaptic vesicle membrane integral component of membrane uc007nii.1 uc007nii.2 uc007nii.3 uc007nii.4 
ENSMUST00000020886.9 Nampt ENSMUST00000020886.9 nicotinamide phosphoribosyltransferase (from RefSeq NM_021524.2) ENSMUST00000020886.1 ENSMUST00000020886.2 ENSMUST00000020886.3 ENSMUST00000020886.4 ENSMUST00000020886.5 ENSMUST00000020886.6 ENSMUST00000020886.7 ENSMUST00000020886.8 NAMPT_MOUSE NM_021524 Pbef1 Q8C3B5 Q99KQ4 Q9JKM0 uc007nif.1 uc007nif.2 uc007nif.3 uc007nif.4 The secreted form behaves both as a cytokine with immunomodulating properties and an adipokine with anti-diabetic properties, it has no enzymatic activity, partly because of lack of activation by ATP, which has a low level in extracellular space and plasma (By similarity). Catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, an intermediate in the biosynthesis of NAD. It is the rate limiting component in the mammalian NAD biosynthesis pathway. Plays a role in the modulation of circadian clock function. NAMPT-dependent oscillatory production of NAD regulates oscillation of clock target gene expression by releasing the core clock component: CLOCK-BMAL1 heterodimer from NAD-dependent SIRT1-mediated suppression. Reaction=beta-nicotinamide D-ribonucleotide + diphosphate = 5-phospho- alpha-D-ribose 1-diphosphate + H(+) + nicotinamide; Xref=Rhea:RHEA:16149, ChEBI:CHEBI:14649, ChEBI:CHEBI:15378, ChEBI:CHEBI:17154, ChEBI:CHEBI:33019, ChEBI:CHEBI:58017; EC=2.4.2.12; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:16151; Evidence=; Kinetic parameters: KM=0.92 uM for nicotinamide Vmax=0.021 umol/min/mg enzyme Cofactor biosynthesis; NAD(+) biosynthesis; nicotinamide D- ribonucleotide from 5-phospho-alpha-D-ribose 1-diphosphate and nicotinamide: step 1/1. Homodimer. Q99KQ4; Q99KQ4: Nampt; NbExp=4; IntAct=EBI-8316571, EBI-8316571; Nucleus Cytoplasm Secreted Note=Under non-inflammatory conditions, visfatin predominantly exhibits a granular pattern within the nucleus. Secreted by endothelial cells upon IL-1beta stimulation. Abundantly secreted in milk, reaching 100- fold higher concentrations compared to maternal serum. Ubiquitously expressed in lymphoid and non-lymphoid tissues. Expression shows a diurnal pattern of oscillation across the 24-hour light-dark cycle in liver, with a reduction in levels before the onset of the dark period (at protein level). Expression shows a diurnal pattern of oscillation in white adipose tissue (WAT), peaking at the beginning of the dark period. Up-regulated during polyclonal immune responses. Belongs to the NAPRTase family. microglial cell activation catalytic activity nicotinate-nucleotide diphosphorylase (carboxylating) activity cytokine activity extracellular region extracellular space nucleus cytoplasm cytosol plasma membrane signal transduction female pregnancy aging circadian rhythm drug binding NAD biosynthetic process negative regulation of autophagy response to organic cyclic compound regulation of lung blood pressure nuclear speck transferase activity transferase activity, transferring glycosyl groups pyridine nucleotide biosynthetic process cell junction circadian regulation of gene expression identical protein binding protein homodimerization activity positive regulation of transcription from RNA polymerase II promoter nicotinamide phosphoribosyltransferase activity rhythmic process positive regulation of smooth muscle cell proliferation positive regulation of nitric-oxide synthase biosynthetic process neuron death cellular response to ionizing radiation cellular response to oxygen-glucose deprivation cellular response to beta-amyloid response to D-galactose negative regulation of cellular senescence uc007nif.1 uc007nif.2 uc007nif.3 uc007nif.4 
ENSMUST00000020896.17 Tspan13 ENSMUST00000020896.17 tetraspanin 13 (from RefSeq NM_025359.3) A7NSH9 ENSMUST00000020896.1 ENSMUST00000020896.10 ENSMUST00000020896.11 ENSMUST00000020896.12 ENSMUST00000020896.13 ENSMUST00000020896.14 ENSMUST00000020896.15 ENSMUST00000020896.16 ENSMUST00000020896.2 ENSMUST00000020896.3 ENSMUST00000020896.4 ENSMUST00000020896.5 ENSMUST00000020896.6 ENSMUST00000020896.7 ENSMUST00000020896.8 ENSMUST00000020896.9 NM_025359 Q3TMS0 Q8BTH3 Q9D8C2 TSN13_MOUSE Tm4sf13 uc007njn.1 uc007njn.2 uc007njn.3 Membrane ; Multi-pass membrane protein Belongs to the tetraspanin (TM4SF) family. calcium channel regulator activity protein binding plasma membrane membrane integral component of membrane regulation of calcium ion transmembrane transport uc007njn.1 uc007njn.2 uc007njn.3 
ENSMUST00000020898.12 Agr2 ENSMUST00000020898.12 anterior gradient 2 (from RefSeq NM_011783.2) A2CGA2 AGR2_MOUSE ENSMUST00000020898.1 ENSMUST00000020898.10 ENSMUST00000020898.11 ENSMUST00000020898.2 ENSMUST00000020898.3 ENSMUST00000020898.4 ENSMUST00000020898.5 ENSMUST00000020898.6 ENSMUST00000020898.7 ENSMUST00000020898.8 ENSMUST00000020898.9 Gob4 NM_011783 O88312 uc007njm.1 uc007njm.2 uc007njm.3 Required for MUC2 post-transcriptional synthesis and secretion. May play a role in the production of mucus by intestinal cells. Proto-oncogene that may play a role in cell migration, cell differentiation and cell growth (By similarity). Promotes cell adhesion (By similarity). Monomer and homodimer. Interacts with LYPD3 and DAG1 (alphaDAG1). Interacts with MUC2; disulfide-linked. Secreted Endoplasmic reticulum Expressed in lung, skeletal muscle, testis, liver, stomach, colon, small intestine, the goblet cells of the intestine and the mucuous neck cells of the stomach. Expressed in embryo at 15 dpc onwards. Mice are viable but display altered production of mucus with loss of production of MUC2 despite expression of its mRNA. They also display an increase in mast cells in the intestine, an increased expression of inflammation-specific genes, and frequent rectal prolapse. This is associated with a higher susceptibility to colitis. Belongs to the AGR family. dystroglycan binding epidermal growth factor receptor binding extracellular region extracellular space mitochondrion endoplasmic reticulum positive regulation of gene expression positive regulation of cell-substrate adhesion protein homodimerization activity positive regulation of epidermal growth factor receptor signaling pathway digestive tract morphogenesis positive regulation of developmental growth lung goblet cell differentiation negative regulation of cell death mucus secretion positive regulation of protein localization to plasma membrane positive regulation of IRE1-mediated unfolded protein response positive regulation of PERK-mediated unfolded protein response uc007njm.1 uc007njm.2 uc007njm.3 
ENSMUST00000020899.5 Matn3 ENSMUST00000020899.5 matrilin 3 (from RefSeq NM_010770.4) ENSMUST00000020899.1 ENSMUST00000020899.2 ENSMUST00000020899.3 ENSMUST00000020899.4 MATN3_MOUSE NM_010770 O35701 Q543Q2 Q9JHM0 uc007nag.1 uc007nag.2 uc007nag.3 Major component of the extracellular matrix of cartilage and may play a role in the formation of extracellular filamentous networks. Can form homooligomers (monomers, dimers, trimers and tetramers) and heterooligomers with matrilin-1. Interacts with COMP (By similarity). Component of a complex containing at least CRELD2, MANF, MATN3 and PDIA4 (PubMed:23956175). Secreted Strongly expressed in growing skeletal tissue such as epiphyseal growth plate or in bone undergoing growth and remodeling. In the bone, actively synthesized in osteoblasts and osteocytes. Expressed in cartilage of sternum, femur, vertebrae, trachea, articular and epiphyseal cartilage, cartilage of developing bones and bones. The earliest expression could be detected in a 12.5 dpc embryo in the cartilage anlage of the developing bones. At 14.5 dpc the primordial skeleton shows a strong expression. At birth present in the developing occipital bones, bones of the nasal cavity, manubrium and corpus of sternum as well as in the cartilage plates of trachea. At no stage of development detected in extraskeletal tissues. growth plate cartilage chondrocyte morphogenesis calcium ion binding extracellular region extracellular space extracellular matrix cartilage development uc007nag.1 uc007nag.2 uc007nag.3 
ENSMUST00000020904.8 Rock2 ENSMUST00000020904.8 Rho-associated coiled-coil containing protein kinase 2 (from RefSeq NM_009072.2) ENSMUST00000020904.1 ENSMUST00000020904.2 ENSMUST00000020904.3 ENSMUST00000020904.4 ENSMUST00000020904.5 ENSMUST00000020904.6 ENSMUST00000020904.7 F8VPK5 F8VPK5_MOUSE NM_009072 Rock2 uc007nch.1 uc007nch.2 uc007nch.3 Protein kinase which is a key regulator of actin cytoskeleton and cell polarity. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence= Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence= Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence= Activated by RHOA binding. Inhibited by Y-27632. Homodimer. Cell membrane ; Peripheral membrane protein Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Membrane ; Peripheral membrane protein Nucleus Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. nucleotide binding positive regulation of protein phosphorylation protein kinase activity protein serine/threonine kinase activity ATP binding centrosome cytosol cytoskeleton protein phosphorylation smooth muscle contraction I-kappaB kinase/NF-kappaB signaling Rho protein signal transduction positive regulation of endothelial cell migration positive regulation of gene expression positive regulation of centrosome duplication kinase activity phosphorylation negative regulation of angiogenesis transferase activity Rho GTPase binding peptidyl-serine phosphorylation peptidyl-threonine phosphorylation actin cytoskeleton organization positive regulation of cell migration cortical actin cytoskeleton organization regulation of actin cytoskeleton organization negative regulation of myosin-light-chain-phosphatase activity intracellular signal transduction cytoplasmic ribonucleoprotein granule viral RNA genome replication negative regulation of nitric oxide biosynthetic process regulation of keratinocyte differentiation metal ion binding centrosome duplication positive regulation of stress fiber assembly cellular response to testosterone stimulus Rho-dependent protein serine/threonine kinase activity protein localization to plasma membrane positive regulation of beta-amyloid formation positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process positive regulation of protein localization to early endosome positive regulation of amyloid precursor protein catabolic process regulation of establishment of endothelial barrier negative regulation of bicellular tight junction assembly uc007nch.1 uc007nch.2 uc007nch.3 
ENSMUST00000020908.9 E2f6 ENSMUST00000020908.9 E2F transcription factor 6, transcript variant 1 (from RefSeq NM_033270.2) E2F6_MOUSE E2f6 ENSMUST00000020908.1 ENSMUST00000020908.2 ENSMUST00000020908.3 ENSMUST00000020908.4 ENSMUST00000020908.5 ENSMUST00000020908.6 ENSMUST00000020908.7 ENSMUST00000020908.8 NM_033270 O54917 Q8K456 uc007nce.1 uc007nce.2 uc007nce.3 uc007nce.4 Inhibitor of E2F-dependent transcription (PubMed:9403682). Binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' (PubMed:9403682, PubMed:18667754). Has a preference for the 5'-TTTCCCGC-3' E2F recognition site (PubMed:9403682). E2F6 lacks the transcriptional activation and pocket protein binding domains (PubMed:9403682). Appears to regulate a subset of E2F-dependent genes whose products are required for entry into the cell cycle but not for normal cell cycle progression (By similarity). Represses expression of some meiosis-specific genes, including SLC25A31/ANT4 (PubMed:18667754). May silence expression via the recruitment of a chromatin remodeling complex containing histone H3-K9 methyltransferase activity. Overexpression delays the exit of cells from the S-phase (By similarity). Forms heterodimers with DP family members TFDP1 or TFDP2. Component of the DRTF1/E2F transcription factor complex. Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, L3MBTL2 and YAF2. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Nucleus Belongs to the E2F/DP family. regulation of transcription involved in G1/S transition of mitotic cell cycle negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm DNA replication factor A complex transcription factor complex regulation of transcription, DNA-templated cell cycle transcription factor binding sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter protein dimerization activity regulation of cell cycle MLL1 complex RNA polymerase II transcription factor complex uc007nce.1 uc007nce.2 uc007nce.3 uc007nce.4 
ENSMUST00000020909.5 Laptm4a ENSMUST00000020909.5 lysosomal-associated protein transmembrane 4A (from RefSeq NM_008640.3) E9QLR3 ENSMUST00000020909.1 ENSMUST00000020909.2 ENSMUST00000020909.3 ENSMUST00000020909.4 Laptm4a NM_008640 Q8BG66 Q8BG66_MOUSE uc007naf.1 uc007naf.2 uc007naf.3 uc007naf.4 uc007naf.5 May function in the transport of nucleosides and/or nucleoside derivatives between the cytosol and the lumen of an intracellular membrane-bound compartment. Endomembrane system ; Multi-pass membrane protein Belongs to the LAPTM4/LAPTM5 transporter family. membrane integral component of membrane uc007naf.1 uc007naf.2 uc007naf.3 uc007naf.4 uc007naf.5 
ENSMUST00000020911.14 Sdc1 ENSMUST00000020911.14 syndecan 1 (from RefSeq NM_011519.2) ENSMUST00000020911.1 ENSMUST00000020911.10 ENSMUST00000020911.11 ENSMUST00000020911.12 ENSMUST00000020911.13 ENSMUST00000020911.2 ENSMUST00000020911.3 ENSMUST00000020911.4 ENSMUST00000020911.5 ENSMUST00000020911.6 ENSMUST00000020911.7 ENSMUST00000020911.8 ENSMUST00000020911.9 NM_011519 Q3V1F2 Q3V1F2_MOUSE Sdc1 uc007nac.1 uc007nac.2 uc007nac.3 uc007nac.4 Cell surface proteoglycan. Membrane ingle-pass type I membrane protein Secreted, extracellular exosome Belongs to the syndecan proteoglycan family. ureteric bud development inflammatory response protein C-terminus binding response to toxic substance cell surface response to organic substance membrane integral component of membrane macromolecular complex wound healing odontogenesis response to hydrogen peroxide identical protein binding response to glucocorticoid response to cAMP response to calcium ion striated muscle cell development Sertoli cell development positive regulation of exosomal secretion positive regulation of extracellular exosome assembly uc007nac.1 uc007nac.2 uc007nac.3 uc007nac.4 
ENSMUST00000020920.10 Rgs9 ENSMUST00000020920.10 regulator of G-protein signaling 9, transcript variant 1 (from RefSeq NM_011268.2) A1L352 ENSMUST00000020920.1 ENSMUST00000020920.2 ENSMUST00000020920.3 ENSMUST00000020920.4 ENSMUST00000020920.5 ENSMUST00000020920.6 ENSMUST00000020920.7 ENSMUST00000020920.8 ENSMUST00000020920.9 NM_011268 O54828 Q9Z0S0 RGS9_MOUSE uc007mbx.1 uc007mbx.2 uc007mbx.3 Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to GNAT1. Involved in phototransduction; key element in the recovery phase of visual transduction. Heterodimer with GNB5. Interacts with RGS7BP, leading to regulate the subcellular location of the heterodimer formed with GNB5 (PubMed:15632198, PubMed:15897264). Component of the RGS9-1-Gbeta5 complex composed of RGS9 (RGS9-1), Gbeta5 (GNB5) and RGS9BP (PubMed:12119397, PubMed:12499365, PubMed:14614075, PubMed:16908407). Interacts with PDE6G and GNAT1 (By similarity). [Isoform 1]: Membrane; Peripheral membrane protein. Note=Isoform 1 is targeted to the membrane via its interaction with RGS9BP. Event=Alternative splicing; Named isoforms=2; Name=2; Synonyms=RGS9-2; IsoId=O54828-1; Sequence=Displayed; Name=1; Synonyms=RGS9-1; IsoId=O54828-2; Sequence=VSP_005678, VSP_005679; Isoform 1 is expressed in photoreceptor outer segments. Isoform 2 is expressed in brain striatum. Retinal isoform 1 is light-dependent phosphorylated at 'Ser-475'. Phosphorylation is decreased by light exposition. Interaction with RGS9BP is decreased when isoform 1 is phosphorylated at 'Ser-475'. photoreceptor outer segment photoreceptor inner segment response to amphetamine GTPase activator activity protein binding nucleus cytoplasm G-protein coupled receptor signaling pathway dopamine receptor signaling pathway nervous system development visual perception regulation of G-protein coupled receptor protein signaling pathway negative regulation of signal transduction membrane response to estradiol intracellular signal transduction positive regulation of GTPase activity response to stimulus postsynaptic density membrane glutamatergic synapse positive regulation of NMDA glutamate receptor activity uc007mbx.1 uc007mbx.2 uc007mbx.3 
ENSMUST00000020922.8 Trib2 ENSMUST00000020922.8 tribbles pseudokinase 2, transcript variant 1 (from RefSeq NM_144551.6) ENSMUST00000020922.1 ENSMUST00000020922.2 ENSMUST00000020922.3 ENSMUST00000020922.4 ENSMUST00000020922.5 ENSMUST00000020922.6 ENSMUST00000020922.7 NM_144551 Q8K017 Q8K4K3 Q8R2V8 TRIB2_MOUSE Trib2 uc007nbq.1 uc007nbq.2 Interacts with MAPK kinases and regulates activation of MAP kinases. Does not display kinase activity (By similarity). Cytoplasm Cytoplasm, cytoskeleton Note=May associate with the cytoskeleton. The protein kinase domain is predicted to be catalytically inactive. Belongs to the protein kinase superfamily. CAMK Ser/Thr protein kinase family. Tribbles subfamily. protein kinase inhibitor activity nucleus cytoplasm cytoskeleton protein phosphorylation negative regulation of protein kinase activity transcription factor binding mitogen-activated protein kinase kinase binding ubiquitin protein ligase binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process regulation of MAP kinase activity negative regulation of sequence-specific DNA binding transcription factor activity negative regulation of interleukin-10 biosynthetic process negative regulation of fat cell differentiation positive regulation of ubiquitin-protein transferase activity ubiquitin-protein transferase regulator activity nucleotide binding protein kinase activity uc007nbq.1 uc007nbq.2 
ENSMUST00000020926.8 Lratd1 ENSMUST00000020926.8 LRAT domain containing 1 (from RefSeq NM_029007.2) A0A0R4J012 A0A0R4J012_MOUSE ENSMUST00000020926.1 ENSMUST00000020926.2 ENSMUST00000020926.3 ENSMUST00000020926.4 ENSMUST00000020926.5 ENSMUST00000020926.6 ENSMUST00000020926.7 Fam84a Lratd1 NM_029007 uc007nbn.1 uc007nbn.2 uc007nbn.3 cell morphogenesis cell motility uc007nbn.1 uc007nbn.2 uc007nbn.3 
ENSMUST00000020927.10 Hs1bp3 ENSMUST00000020927.10 HCLS1 binding protein 3 (from RefSeq NM_021429.3) E9QLQ4 ENSMUST00000020927.1 ENSMUST00000020927.2 ENSMUST00000020927.3 ENSMUST00000020927.4 ENSMUST00000020927.5 ENSMUST00000020927.6 ENSMUST00000020927.7 ENSMUST00000020927.8 ENSMUST00000020927.9 H1BP3_MOUSE NM_021429 Q3TC93 Q9Z1K1 uc007mzo.1 uc007mzo.2 uc007mzo.3 uc007mzo.4 May be a modulator of IL-2 signaling. Binds HCLS1. Interacts with the SH3 domain of HCLS1 in vitro. Ubiquitously expressed. protein binding mitochondrion endoplasmic reticulum cell surface receptor signaling pathway T cell differentiation phosphatidylinositol binding regulation of apoptotic process uc007mzo.1 uc007mzo.2 uc007mzo.3 uc007mzo.4 
ENSMUST00000020928.13 Arsg ENSMUST00000020928.13 arylsulfatase G, transcript variant 1 (from RefSeq NM_028710.3) ARSG_MOUSE B1AT67 B1AT68 ENSMUST00000020928.1 ENSMUST00000020928.10 ENSMUST00000020928.11 ENSMUST00000020928.12 ENSMUST00000020928.2 ENSMUST00000020928.3 ENSMUST00000020928.4 ENSMUST00000020928.5 ENSMUST00000020928.6 ENSMUST00000020928.7 ENSMUST00000020928.8 ENSMUST00000020928.9 Kiaa1001 NM_028710 Q3TYD4 Q5XFU5 Q69ZT6 Q8CHS3 Q8VBZ5 Q9D3B4 uc007mcn.1 uc007mcn.2 uc007mcn.3 uc007mcn.4 Displays arylsulfatase activity at acidic pH towards the artificial substrate p-nitrocatechol sulfate (PubMed:25135642). Catalyzes the hydrolysis of the 3-sulfate groups of the N-sulfo-D- glucosamine 3-O-sulfate units of heparin (PubMed:22689975). Reaction=an aryl sulfate + H2O = a phenol + H(+) + sulfate; Xref=Rhea:RHEA:17261, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16189, ChEBI:CHEBI:33853, ChEBI:CHEBI:140317; EC=3.1.6.1; Evidence=; Reaction=Hydrolysis of the 3-sulfate groups of the N-sulfo-D- glucosamine 3-O-sulfate units of heparin.; EC=3.1.6.15; Evidence=; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Note=Binds 1 Ca(2+) ion per subunit. ; Lysosome Note=The 63-kDa precursor protein localizes to pre-lysosomal compartments and tightly associates with organelle membranes, most likely the endoplasmic reticulum. In contrast, proteolytically processed fragments of 34-, 18- and 10-kDa are found in lysosomal fractions and lose their membrane association. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q3TYD4-1; Sequence=Displayed; Name=2; IsoId=Q3TYD4-2; Sequence=VSP_018628, VSP_018629; Highly expressed in the spleen, kidney, liver, brain, and testis (at protein level). N-glycosylated with both high mannose and complex type sugars. The conversion to 3-oxoalanine (also known as C-formylglycine, FGly), of a serine or cysteine residue in prokaryotes and of a cysteine residue in eukaryotes, is critical for catalytic activity. The 63-kDa precursor undergoes proteolytic processing in two steps, yielding two fragments in the first step (apparent molecular masses of 44 and 18 kDa). In the second step, the 44-kDa fragment is processed further to the 34- and 10-kDa chains. The 10-kDa chain is a cleavage product of the 44-kDa fragment but linked to the 18-kDa chain through a disulfide bridge. Mice accumulate heparan sulfate in visceral organs and the central nervous system and develop neuronal cell death and behavioral deficits (PubMed:22689975). This accumulated heparan sulfate exhibits unique non-reducing end structures with terminal N- sulfoglucosamine-3-O-sulfate residues (PubMed:22689975). Belongs to the sulfatase family. catalytic activity arylsulfatase activity extracellular space lysosome endoplasmic reticulum sulfur compound metabolic process sulfuric ester hydrolase activity hydrolase activity metal ion binding uc007mcn.1 uc007mcn.2 uc007mcn.3 uc007mcn.4 
ENSMUST00000020930.14 Gna13 ENSMUST00000020930.14 guanine nucleotide binding protein, alpha 13, transcript variant 1 (from RefSeq NM_010303.3) ENSMUST00000020930.1 ENSMUST00000020930.10 ENSMUST00000020930.11 ENSMUST00000020930.12 ENSMUST00000020930.13 ENSMUST00000020930.2 ENSMUST00000020930.3 ENSMUST00000020930.4 ENSMUST00000020930.5 ENSMUST00000020930.6 ENSMUST00000020930.7 ENSMUST00000020930.8 ENSMUST00000020930.9 GNA13_MOUSE Gna-13 NM_010303 P27601 Q6PF99 uc007mce.1 uc007mce.2 uc007mce.3 Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:21212405, PubMed:19151758, PubMed:16388592). Activates effector molecule RhoA by binding and activating RhoGEFs (ARHGEF1/p115RhoGEF, ARHGEF11/PDZ-RhoGEF and ARHGEF12/LARG) (PubMed:16388592). GNA13- dependent Rho signaling subsequently regulates transcription factor AP- 1 (activating protein-1) (PubMed:19151758, PubMed:21212405). Promotes tumor cell invasion and metastasis by activating Rho/ROCK signaling pathway (By similarity). Inhibits CDH1-mediated cell adhesion in process independent from Rho activation (By similarity). G proteins are composed of 3 units; alpha, beta and gamma (PubMed:16388592). The alpha chain contains the guanine nucleotide binding site (PubMed:16388592). Interacts with UBXD5 (By similarity). Interacts with HAX1 (By similarity). Interacts (in GTP-bound form) with PPP5C (via TPR repeats); activates PPP5C phosphatase activity and translocates PPP5C to the cell membrane (By similarity). Interacts with RGS22 (By similarity). Interacts (in GTP-bound form) with ARHGEF1 (PubMed:16388592). Interacts (in GTP-bound form) with ARHGEF11 (via RGS domain) (PubMed:18940608). Interacts (in GTP-bound form) with ARHGEF12 (via RGS domain) (PubMed:16388592). Interacts with CTNND1 (PubMed:15240885). Interacts with GAS2L2 (PubMed:23994616). Interacts with GPR35 (By similarity). Interacts with GPR174 (PubMed:31875850). P27601; O08915: Aip; NbExp=3; IntAct=EBI-2255627, EBI-6935014; P27601; Q9ES67: Arhgef11; Xeno; NbExp=3; IntAct=EBI-2255627, EBI-15735216; Membrane ; Lipid- anchor Melanosome Cytoplasm Nucleus Note=Cytoplasmic in adult somatic cells, but mainly nuclear in spermatids in the testes. Translocates from the cytoplasm to the nucleus during spermatogenesis, hence predominantly observed in the cytoplasm of round spermatids but localized in the nuclei of elongating or elongated spermatids and testicular spermatozoa. Expressed in brain and testis, as well as in kidney and sperm (at protein level). Phosphorylation on Thr-203 destabilizes the heterotrimer of alpha, beta and gamma, and inhibits Rho activation. Belongs to the G-alpha family. G(12) subfamily. nucleotide binding angiogenesis branching involved in blood vessel morphogenesis G-protein coupled receptor binding in utero embryonic development GTPase activity protein binding GTP binding nucleus cytoplasm cytosol heterotrimeric G-protein complex plasma membrane signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-modulating G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration Rho protein signal transduction regulation of cell shape membrane guanyl nucleotide binding cell differentiation platelet activation regulation of cell migration brush border membrane activation of phospholipase D activity G-protein beta/gamma-subunit complex binding D5 dopamine receptor binding intracellular signal transduction melanosome metal ion binding uc007mce.1 uc007mce.2 uc007mce.3 
ENSMUST00000020931.6 Smc6 ENSMUST00000020931.6 structural maintenance of chromosomes 6, transcript variant 1 (from RefSeq NM_025695.4) ENSMUST00000020931.1 ENSMUST00000020931.2 ENSMUST00000020931.3 ENSMUST00000020931.4 ENSMUST00000020931.5 Kiaa4103 NM_025695 Q3UFI5 Q3UX54 Q499E1 Q5DTN2 Q8BFU9 Q8R0T4 Q924W5 Q9CSK7 Q9CV94 Q9CZZ5 Q9D169 Q9D6B2 SMC6_MOUSE Smc6l1 uc007nay.1 uc007nay.2 Core component of the SMC5-SMC6 complex, a complex involved in repair of DNA double-strand breaks by homologous recombination. The complex may promote sister chromatid homologous recombination by recruiting the SMC1-SMC3 cohesin complex to double-strand breaks. The complex is required for telomere maintenance via recombination and mediates sumoylation of shelterin complex (telosome) components (By similarity). Forms a heterodimer with SMC5. Component of the SMC5-SMC6 complex which consists at least of SMC5, SMC6, NSMCE2, NSMCE1, NSMCE4A or EID3 and NSMCE3. Interacts with NSMCE1. Interacts with NSMCE2. Interacts with SLF1. Interacts with SLF2. Interacts with RAD18. Interacts with SIMC1. Nucleus Nucleus speckle Chromosome Nucleus, PML body Chromosome, telomere Note=Localizes to PML nuclear bodies in ALT cell lines. Associates with chromatin. Accumulates with RAD18 and the SLF1-SLF2 complex at replication-coupled DNA interstrand repair and DNA double-strand breaks (DSBs) sites on chromatin in a ubiquitin- dependent manner. Localizes in interchromatin granule clusters (By similarity). Colocalizes with SMC5 on the X-Y chromosome pair within the sex vesicle during late pachytene/diplotene (PubMed:11408570). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q924W5-1; Sequence=Displayed; Name=2; IsoId=Q924W5-2; Sequence=VSP_022254, VSP_022255; The flexible hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC5, forming a V-shaped heterodimer. Phosphorylated. Sumoylated by NSMCE2/MMS21. Ubiquitinated. Belongs to the SMC family. SMC6 subfamily. Sequence=BAB23051.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; nucleotide binding telomere maintenance via recombination chromosome, telomeric region sex chromosome ATP binding nucleus nucleoplasm chromosome DNA repair DNA recombination cellular response to DNA damage stimulus PML body nuclear speck Smc5-Smc6 complex ubiquitin protein ligase binding interchromatin granule site of double-strand break positive regulation of chromosome segregation cellular senescence uc007nay.1 uc007nay.2 
ENSMUST00000020938.8 Fam20a ENSMUST00000020938.8 FAM20A, golgi associated secretory pathway pseudokinase (from RefSeq NM_153782.2) ENSMUST00000020938.1 ENSMUST00000020938.2 ENSMUST00000020938.3 ENSMUST00000020938.4 ENSMUST00000020938.5 ENSMUST00000020938.6 ENSMUST00000020938.7 FA20A_MOUSE Fam20a NM_153782 Q8CID3 uc007mcw.1 uc007mcw.2 uc007mcw.3 Pseudokinase that acts as an allosteric activator of the Golgi serine/threonine protein kinase FAM20C and is involved in biomineralization of teeth. Forms a complex with FAM20C and increases the ability of FAM20C to phosphorylate the proteins that form the 'matrix' that guides the deposition of the enamel minerals. Interacts with FAM20C; probably forming a heterotetramer of 2 subunits of FAM20A and 2 subunits of FAM20C. Secreted Golgi apparatus Endoplasmic reticulum In the mammary gland, expressed at higher levels in lactating mice than in virgin mice (PubMed:29858230). Observed throughout the tissues of the mandibular incisor, including the secretory and maturation stage ameloblasts, the suprabasal layers of the gingival epithelium and the odontoblasts. Weak expression in the enamel matrix. In EML and MPRO cell lines, low levels in undifferentiated cells. Induced during maturation to promyelocyte stage of neutrophil differentiation. Decreased during neutrophil terminal differentiation. By all-trans retinoic acid (atRA) and IL3 in EML cell line. N-glycosylated. Mice survive to adulthood and show biomineralization defects such as severe amelogenesis imperfecta (AI). In addition, mice develop disseminated calcifications of muscular arteries and intrapulmonary calcifications, similar to those of fetuin- A (Ahsg) deficient mice, although they are normocalcemic and normophosphatemic, with normal dentin and bone. Belongs to the FAM20 family. positive regulation of protein phosphorylation extracellular region extracellular space cell endoplasmic reticulum Golgi apparatus protein phosphorylation response to bacterium biomineral tissue development protein serine/threonine kinase activator activity tooth eruption calcium ion homeostasis enamel mineralization positive regulation of protein serine/threonine kinase activity protein serine/threonine kinase activity phosphotransferase activity, alcohol group as acceptor uc007mcw.1 uc007mcw.2 uc007mcw.3 
ENSMUST00000020941.11 1700012B07Rik ENSMUST00000020941.11 RIKEN cDNA 1700012B07 gene, transcript variant 2 (from RefSeq NM_027038.1) 1700012B07Rik ENSMUST00000020941.1 ENSMUST00000020941.10 ENSMUST00000020941.2 ENSMUST00000020941.3 ENSMUST00000020941.4 ENSMUST00000020941.5 ENSMUST00000020941.6 ENSMUST00000020941.7 ENSMUST00000020941.8 ENSMUST00000020941.9 NM_027038 Q9DAE9 Q9DAE9_MOUSE uc007mcy.1 uc007mcy.2 uc007mcy.3 uc007mcy.4 molecular_function cellular_component biological_process uc007mcy.1 uc007mcy.2 uc007mcy.3 uc007mcy.4 
ENSMUST00000020947.7 Rdh14 ENSMUST00000020947.7 retinol dehydrogenase 14 (all-trans and 9-cis) (from RefSeq NM_023697.2) ENSMUST00000020947.1 ENSMUST00000020947.2 ENSMUST00000020947.3 ENSMUST00000020947.4 ENSMUST00000020947.5 ENSMUST00000020947.6 NM_023697 Pan2 Q9ERI6 RDH14_MOUSE uc007nar.1 uc007nar.2 uc007nar.3 uc007nar.4 Retinol dehydrogenase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinol. Shows a very weak activity towards 13-cis-retinol. Has no activity towards steroids. Reaction=all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH; Xref=Rhea:RHEA:25033, ChEBI:CHEBI:15378, ChEBI:CHEBI:17336, ChEBI:CHEBI:17898, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.300; Evidence=; Reaction=11-cis-retinol + NADP(+) = 11-cis-retinal + H(+) + NADPH; Xref=Rhea:RHEA:54912, ChEBI:CHEBI:15378, ChEBI:CHEBI:16066, ChEBI:CHEBI:16302, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=; Reaction=9-cis-retinol + NADP(+) = 9-cis-retinal + H(+) + NADPH; Xref=Rhea:RHEA:54916, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:78272, ChEBI:CHEBI:78273; Evidence=; Shows clear specificity for the pro-S hydrogen on C4 of NADPH and the pro-R hydrogen on C15 of retinols. Belongs to the short-chain dehydrogenases/reductases (SDR) family. mitochondrion endoplasmic reticulum alcohol dehydrogenase (NADP+) activity oxidoreductase activity retinol metabolic process NADP-retinol dehydrogenase activity oxidation-reduction process steroid dehydrogenase activity uc007nar.1 uc007nar.2 uc007nar.3 uc007nar.4 
ENSMUST00000020948.15 Abca8b ENSMUST00000020948.15 ATP-binding cassette, sub-family A member 8b, transcript variant 1 (from RefSeq NM_013851.4) A2AM55 ABC8B_MOUSE Abca8 Abca8b ENSMUST00000020948.1 ENSMUST00000020948.10 ENSMUST00000020948.11 ENSMUST00000020948.12 ENSMUST00000020948.13 ENSMUST00000020948.14 ENSMUST00000020948.2 ENSMUST00000020948.3 ENSMUST00000020948.4 ENSMUST00000020948.5 ENSMUST00000020948.6 ENSMUST00000020948.7 ENSMUST00000020948.8 ENSMUST00000020948.9 Kiaa0822 NM_013851 Q69ZY4 Q8BRQ1 Q8K440 Q9JL38 uc007mdb.1 uc007mdb.2 uc007mdb.3 uc007mdb.4 Mediates cholesterol and taurocholate efflux (PubMed:28882873). Through the interaction with ABCA1 potentiates the cholesterol efflux to lipid-free APOA1, in turn regulates high-density lipoprotein cholesterol levels (By similarity). Reaction=ATP + H2O + taurocholate(in) = ADP + H(+) + phosphate + taurocholate(out); Xref=Rhea:RHEA:50052, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:36257, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50053; Evidence=; Reaction=ATP + cholesterol(in) + H2O = ADP + cholesterol(out) + H(+) + phosphate; Xref=Rhea:RHEA:39051, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16113, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39052; Evidence=; Cholesterol efflux is increased by extracellularly applied taurocholate. Cell membrane ; Multi-pass membrane protein Basolateral cell membrane Note=Predominantly expressed on the sinusoidal plasma membrane in hepatocytes. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8K440-1; Sequence=Displayed; Name=2; IsoId=Q8K440-2; Sequence=VSP_020704; Expressed in heart, brain, lung, liver and skeletal muscle (PubMed:12532264). Highly expressed in the liver, and is also abundant in heart and skeletal muscle (PubMed:28882873). Highly expressed in liver (PubMed:29300488). Expressed during embryogenesis. Down-regulated by digoxin. Belongs to the ABC transporter superfamily. ABCA family. Sequence=BAD32312.1; Type=Erroneous initiation; Evidence=; nucleotide binding lipid transporter activity ATP binding mitochondrial inner membrane plasma membrane lipid transport membrane integral component of membrane ATPase activity ATPase activity, coupled to transmembrane movement of substances intracellular membrane-bounded organelle transmembrane transport uc007mdb.1 uc007mdb.2 uc007mdb.3 uc007mdb.4 
ENSMUST00000020949.12 Map2k6 ENSMUST00000020949.12 mitogen-activated protein kinase kinase 6, transcript variant 1 (from RefSeq NM_011943.3) ENSMUST00000020949.1 ENSMUST00000020949.10 ENSMUST00000020949.11 ENSMUST00000020949.2 ENSMUST00000020949.3 ENSMUST00000020949.4 ENSMUST00000020949.5 ENSMUST00000020949.6 ENSMUST00000020949.7 ENSMUST00000020949.8 ENSMUST00000020949.9 Map2k6 NM_011943 Q543Z5 Q543Z5_MOUSE uc007mdr.1 uc007mdr.2 uc007mdr.3 Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.12.2; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.12.2; Evidence=; Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.12.2; Evidence=; Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. MAPK cascade nucleotide binding activation of MAPK activity positive regulation of protein phosphorylation response to ischemia protein kinase activity protein serine/threonine kinase activity MAP kinase kinase activity ATP binding nucleus cytosol protein phosphorylation apoptotic process protein kinase binding ovulation cycle process positive regulation of prostaglandin secretion response to drug positive regulation of apoptotic process positive regulation of nitric-oxide synthase biosynthetic process cellular response to sorbitol uc007mdr.1 uc007mdr.2 uc007mdr.3 
ENSMUST00000020957.13 Adi1 ENSMUST00000020957.13 acireductone dioxygenase 1 (from RefSeq NM_134052.2) ENSMUST00000020957.1 ENSMUST00000020957.10 ENSMUST00000020957.11 ENSMUST00000020957.12 ENSMUST00000020957.2 ENSMUST00000020957.3 ENSMUST00000020957.4 ENSMUST00000020957.5 ENSMUST00000020957.6 ENSMUST00000020957.7 ENSMUST00000020957.8 ENSMUST00000020957.9 MTND_MOUSE Mtcbp1 NM_134052 Q99JT9 uc007nfv.1 uc007nfv.2 uc007nfv.3 uc007nfv.4 Catalyzes 2 different reactions between oxygen and the acireductone 1,2-dihydroxy-3-keto-5-methylthiopentene (DHK-MTPene) depending upon the metal bound in the active site (PubMed:26858196). Fe-containing acireductone dioxygenase (Fe-ARD) produces formate and 2- keto-4-methylthiobutyrate (KMTB), the alpha-ketoacid precursor of methionine in the methionine recycle pathway (PubMed:26858196). Ni- containing acireductone dioxygenase (Ni-ARD) produces methylthiopropionate, carbon monoxide and formate, and does not lie on the methionine recycle pathway (PubMed:26858196). Also down-regulates cell migration mediated by MMP14 (By similarity). Reaction=1,2-dihydroxy-5-(methylsulfanyl)pent-1-en-3-one + O2 = 4- methylsulfanyl-2-oxobutanoate + formate + 2 H(+); Xref=Rhea:RHEA:24504, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:15740, ChEBI:CHEBI:16723, ChEBI:CHEBI:49252; EC=1.13.11.54; Evidence=; Reaction=1,2-dihydroxy-5-(methylsulfanyl)pent-1-en-3-one + O2 = 3- (methylsulfanyl)propanoate + CO + formate + 2 H(+); Xref=Rhea:RHEA:14161, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:15740, ChEBI:CHEBI:17245, ChEBI:CHEBI:49016, ChEBI:CHEBI:49252; EC=1.13.11.53; Evidence=; Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; Name=Ni(2+); Xref=ChEBI:CHEBI:49786; Evidence=; Note=Binds either 1 Fe or Ni cation per monomer (PubMed:26858196). Iron-binding promotes an acireductone dioxygenase reaction producing 2- keto-4-methylthiobutyrate, while nickel-binding promotes an acireductone dioxygenase reaction producing 3- (methylsulfanyl)propanoate (PubMed:26858196). ; Kinetic parameters: KM=0.123 mM for 1,2-dihydroxy-5-(methylsulfanyl)pent-1-en-3-one (using iron as cofactor) ; KM=0.44 mM for 1,2-dihydroxy-5-(methylsulfanyl)pent-1-en-3-one (using cobalt as cofactor) ; KM=0.302 mM for 1,2-dihydroxy-5-(methylsulfanyl)pent-1-en-3-one (using nickel as cofactor) ; Note=kcat is 114.3 sec(-1) with 1,2-dihydroxy-5-(methylsulfanyl)pent- 1-en-3-one as substrate (using iron as cofactor) (PubMed:26858196). kcat is 7.55 sec(-1) with 1,2-dihydroxy-5-(methylsulfanyl)pent-1-en- 3-one as substrate (using cobalt as cofactor) (PubMed:26858196). kcat is 17.7 sec(-1) with 1,2-dihydroxy-5-(methylsulfanyl)pent-1-en-3-one as substrate (using nickel as cofactor) (PubMed:26858196). ; Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 5/6. Monomer. Interacts with MMP14. Cytoplasm Nucleus Cell membrane ; Peripheral membrane protein ; Cytoplasmic side te=Localizes to the plasma membrane when complexed to MMP14. Belongs to the acireductone dioxygenase (ARD) family. iron ion binding nucleus cytoplasm plasma membrane methionine metabolic process cellular amino acid biosynthetic process methionine biosynthetic process acireductone dioxygenase [iron(II)-requiring] activity membrane oxidoreductase activity L-methionine biosynthetic process from methylthioadenosine metal ion binding dioxygenase activity oxidation-reduction process uc007nfv.1 uc007nfv.2 uc007nfv.3 uc007nfv.4 
ENSMUST00000020958.9 Klhl29 ENSMUST00000020958.9 kelch-like 29 (from RefSeq NM_001164493.1) A6H646 ENSMUST00000020958.1 ENSMUST00000020958.2 ENSMUST00000020958.3 ENSMUST00000020958.4 ENSMUST00000020958.5 ENSMUST00000020958.6 ENSMUST00000020958.7 ENSMUST00000020958.8 KLH29_MOUSE Kbtbd9 Kiaa1921 NM_001164493 Q80T74 uc007myw.1 uc007myw.2 uc007myw.3 uc007myw.4 uc007myw.5 uc007myw.6 Although the complete sequence is not known with certainty, sequence shown here appears to be the most probable in accordance with human sequence ortholog. Sequence=AAI38284.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=AAI45749.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAC65854.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; uc007myw.1 uc007myw.2 uc007myw.3 uc007myw.4 uc007myw.5 uc007myw.6 
ENSMUST00000020959.9 Rnaseh1 ENSMUST00000020959.9 ribonuclease H1, transcript variant 3 (from RefSeq NR_186048.1) E9QLN8 E9QLN8_MOUSE ENSMUST00000020959.1 ENSMUST00000020959.2 ENSMUST00000020959.3 ENSMUST00000020959.4 ENSMUST00000020959.5 ENSMUST00000020959.6 ENSMUST00000020959.7 ENSMUST00000020959.8 NR_186048 Rnaseh1 uc007nft.1 uc007nft.2 uc007nft.3 uc007nft.4 Endonuclease that specifically degrades the RNA of RNA-DNA hybrids. Reaction=Endonucleolytic cleavage to 5'-phosphomonoester.; EC=3.1.26.4; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence= Belongs to the RNase H family. magnesium ion binding nucleic acid binding nuclease activity endonuclease activity RNA-DNA hybrid ribonuclease activity hydrolase activity metal ion binding RNA phosphodiester bond hydrolysis, endonucleolytic uc007nft.1 uc007nft.2 uc007nft.3 uc007nft.4 
ENSMUST00000020962.12 Ubxn2a ENSMUST00000020962.12 UBX domain protein 2A (from RefSeq NM_145441.4) ENSMUST00000020962.1 ENSMUST00000020962.10 ENSMUST00000020962.11 ENSMUST00000020962.2 ENSMUST00000020962.3 ENSMUST00000020962.4 ENSMUST00000020962.5 ENSMUST00000020962.6 ENSMUST00000020962.7 ENSMUST00000020962.8 ENSMUST00000020962.9 NM_145441 Q99KJ0 UBX2A_MOUSE Ubxd4 Ubxn2a uc007myr.1 uc007myr.2 uc007myr.3 Acts to repress the ubiquitination and subsequent endoplasmic reticulum-associated degradation of CHRNA3 by the STUB1-VCP-UBXN2A complex in cortical neurons (PubMed:19474315). Also acts to promote the translocation of CHRNA3 to the plasma membrane and subsequently increases plasma membrane acetylcholine-gated ion-channel activation (PubMed:19474315). Plays a role in the inhibition of STUB1-mediated TP53 degradation, via its interaction with HSPA9 which acts to inhibit TP53 binding to HSPA9 (By similarity). Positively mediates the ubiquitination and proteosomal degradation of RICTOR, may thereby act as a negative regulator of the mTORC2 pathway (By similarity). Part of a complex composed of STUB1/CHIP, VCP/p97, CHRNA3, and UBXN2A that modulates the ubiquitination and endoplasmic reticulum- associated degradation (ERAD) of CHRNA3 (By similarity). Within the complex UBXN2A acts as a scaffold protein required for the interaction of CHRNA3 with VCP/p97, this interaction also inhibits CHRNA3 ubiquitination by STUB1/CHIP and subsequently ERAD (PubMed:19474315). Interacts (via SEP domain) with CHRNA3 and interacts (via UBX domain) with VCP/P97; these interactions are required for the interaction of CHRNA3 with the STUB1-VCP-UBXN2A complex (PubMed:19474315). Interacts with HSPA9/MOT-2 (via SBD domain); the interaction inhibits HSPA9/MOT-2 interaction with and degradation of p53, thereby promotes p53 translocation to the nucleus (By similarity). Interacts with RICTOR (By similarity). Golgi apparatus Endoplasmic reticulum Perikaryon Cell projection, dendrite Nucleus Cytoplasm Note=Expressed at the axon initial segment. Expressed in the prefrontal cortex (at protein level) (PubMed:19474315, PubMed:26265139). Expressed in the habenula and hippocampus (at protein level) (PubMed:19474315). Expressed in peripheral ganglia (PubMed:19474315). Ubiquitinated. Knockout mice are embryonically lethal. autophagosome assembly endoplasmic reticulum cis-Golgi network cytosol Golgi organization regulation of gene expression regulation of protein ubiquitination nuclear envelope reassembly acetylcholine receptor binding regulation of protein catabolic process ubiquitin binding proteasome-mediated ubiquitin-dependent protein catabolic process membrane fusion cellular response to leukemia inhibitory factor uc007myr.1 uc007myr.2 uc007myr.3 
ENSMUST00000020964.7 Fkbp1b ENSMUST00000020964.7 FK506 binding protein 1b, transcript variant 5 (from RefSeq NR_166125.1) ENSMUST00000020964.1 ENSMUST00000020964.2 ENSMUST00000020964.3 ENSMUST00000020964.4 ENSMUST00000020964.5 ENSMUST00000020964.6 FKB1B_MOUSE NR_166125 Q9Z2I2 uc007myj.1 uc007myj.2 uc007myj.3 Has the potential to contribute to the immunosuppressive and toxic effects of FK506 and rapamycin. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity). Reaction=[protein]-peptidylproline (omega=180) = [protein]- peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA- COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8; Inhibited by both FK506 and rapamycin. Identified in a complex composed of RYR2, FKBP1B, PKA catalytic subunit, PRKAR2A, AKAP6, and the protein phosphatases PP2A and PP1. Interacts directly with RYR2 (By similarity). Q9Z2I2; E9Q401: Ryr2; NbExp=3; IntAct=EBI-6379859, EBI-643628; Cytoplasm Sarcoplasmic reticulum Belongs to the FKBP-type PPIase family. FKBP1 subfamily. protein peptidyl-prolyl isomerization regulation of heart rate peptidyl-prolyl cis-trans isomerase activity receptor binding protein binding FK506 binding cytoplasm smooth muscle contraction positive regulation of cytosolic calcium ion concentration response to glucose response to organic substance negative regulation of heart rate regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion membrane sarcoplasmic reticulum isomerase activity neuronal action potential propagation calcium channel inhibitor activity Z disc insulin secretion cyclic nucleotide binding negative regulation of phosphoprotein phosphatase activity sarcoplasmic reticulum membrane response to vitamin E calcium channel complex T cell proliferation response to hydrogen peroxide intracellular membrane-bounded organelle ion channel binding positive regulation of axon regeneration release of sequestered calcium ion into cytosol negative regulation of release of sequestered calcium ion into cytosol positive regulation of sequestering of calcium ion regulation of cytosolic calcium ion concentration response to redox state regulation of ryanodine-sensitive calcium-release channel activity negative regulation of ryanodine-sensitive calcium-release channel activity chaperone-mediated protein folding negative regulation of insulin secretion involved in cellular response to glucose stimulus uc007myj.1 uc007myj.2 uc007myj.3 
ENSMUST00000020965.14 Allc ENSMUST00000020965.14 allantoicase, transcript variant 1 (from RefSeq NM_053156.3) ALLC_MOUSE Allc E9QL21 ENSMUST00000020965.1 ENSMUST00000020965.10 ENSMUST00000020965.11 ENSMUST00000020965.12 ENSMUST00000020965.13 ENSMUST00000020965.2 ENSMUST00000020965.3 ENSMUST00000020965.4 ENSMUST00000020965.5 ENSMUST00000020965.6 ENSMUST00000020965.7 ENSMUST00000020965.8 ENSMUST00000020965.9 NM_053156 Q9JHX6 uc007nfp.1 uc007nfp.2 uc007nfp.3 uc007nfp.4 uc007nfp.5 uc007nfp.6 The function of this enzyme is unclear as allantoicase activity is not known to exist in mammals. Belongs to the allantoicase family. allantoin metabolic process allantoin catabolic process allantoicase activity cellular_component hydrolase activity uc007nfp.1 uc007nfp.2 uc007nfp.3 uc007nfp.4 uc007nfp.5 uc007nfp.6 
ENSMUST00000020969.5 Cmpk2 ENSMUST00000020969.5 cytidine/uridine monophosphate kinase 2 (from RefSeq NM_020557.4) CMPK2_MOUSE ENSMUST00000020969.1 ENSMUST00000020969.2 ENSMUST00000020969.3 ENSMUST00000020969.4 NM_020557 Q3U5Q7 Q3UCI7 Q5XKG5 Q62316 Q6PFG7 Q9DC34 Tyki uc007nfj.1 uc007nfj.2 uc007nfj.3 Mitochondrial nucleotide monophosphate kinase needed for salvage dNTP synthesis that mediates immunomodulatory and antiviral activities through IFN-dependent and IFN-independent pathways. Restricts the replication of multiple viruses including flaviviruses or coronaviruses. Together with viperin/RSAD2 and ddhCTP, suppresses the replication of several coronaviruses through inhibition of the viral RNA-dependent RNA polymerase activities (By similarity). Concerning flaviviruses, restricts RNA translation when localized to the mitochondria independently of its kinase activity (By similarity). Is able to phosphorylate dUMP, dCMP, CMP, UMP and monophosphates of the pyrimidine nucleoside analogs ddC, dFdC, araC, BVDU and FdUrd with ATP as phosphate donor. Efficacy is highest for dUMP followed by dCMP while CMP and UMP are poor substrates. Controls therefore mitochondrial DNA synthesis by supplying required deoxyribonucleotides (PubMed:36443312). CMPK2-dependent mitochondrial DNA synthesis is necessary for the production of oxidized mitochondrial DNA fragments after exposure to NLRP3 activators (PubMed:30046112). In turn, cytosolic oxidized mtDNA associates with the NLRP3 inflammasome complex and is required for its activation (PubMed:30046112). Reaction=ATP + CMP = ADP + CDP; Xref=Rhea:RHEA:11600, ChEBI:CHEBI:30616, ChEBI:CHEBI:58069, ChEBI:CHEBI:60377, ChEBI:CHEBI:456216; EC=2.7.4.14; Reaction=ATP + dCMP = ADP + dCDP; Xref=Rhea:RHEA:25094, ChEBI:CHEBI:30616, ChEBI:CHEBI:57566, ChEBI:CHEBI:58593, ChEBI:CHEBI:456216; EC=2.7.4.14; Reaction=a 2'-deoxyribonucleoside 5'-diphosphate + ATP = a 2'- deoxyribonucleoside 5'-triphosphate + ADP; Xref=Rhea:RHEA:44640, ChEBI:CHEBI:30616, ChEBI:CHEBI:61560, ChEBI:CHEBI:73316, ChEBI:CHEBI:456216; EC=2.7.4.6; Reaction=a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'- triphosphate + ADP; Xref=Rhea:RHEA:18113, ChEBI:CHEBI:30616, ChEBI:CHEBI:57930, ChEBI:CHEBI:61557, ChEBI:CHEBI:456216; EC=2.7.4.6; Mitochondrion Strongly expressed in the brain. By lipopolysaccharides in macrophages and in primary microglia. Deletion mutant mice display calcification deposits in the brain. Neurons show reduced mitochondrial DNA copy number and impaired phosphorus and energy homeostasis, suggesting that dysregulation of mitochondrial function may promote the initiation and progressive development of brain calcification. Belongs to the thymidylate kinase family. Sequence=AAA58770.1; Type=Miscellaneous discrepancy; Note=Sequence differs due to frameshifts, sequencing errors and other discrepancies.; Evidence=; Sequence=AAH27329.1; Type=Erroneous initiation; Evidence=; Sequence=AAH57565.1; Type=Erroneous initiation; Evidence=; Sequence=BAB23396.1; Type=Frameshift; Evidence=; Sequence=BAE29625.1; Type=Erroneous initiation; Evidence=; Sequence=BAE29646.1; Type=Erroneous initiation; Evidence=; Sequence=BAE29803.1; Type=Erroneous initiation; Evidence=; Sequence=BAE29932.1; Type=Erroneous initiation; Evidence=; Sequence=BAE31987.1; Type=Erroneous initiation; Evidence=; nucleotide binding cytidylate kinase activity nucleoside diphosphate kinase activity thymidylate kinase activity ATP binding cytoplasm mitochondrion nucleoside diphosphate phosphorylation pyrimidine nucleotide biosynthetic process dUDP biosynthetic process dTDP biosynthetic process dTTP biosynthetic process uridylate kinase activity nucleoside triphosphate biosynthetic process kinase activity phosphorylation transferase activity UMP kinase activity nucleoside monophosphate phosphorylation nucleoside phosphate kinase activity cellular response to lipopolysaccharide uc007nfj.1 uc007nfj.2 uc007nfj.3 
ENSMUST00000020970.10 Rsad2 ENSMUST00000020970.10 radical S-adenosyl methionine domain containing 2 (from RefSeq NM_021384.4) ENSMUST00000020970.1 ENSMUST00000020970.2 ENSMUST00000020970.3 ENSMUST00000020970.4 ENSMUST00000020970.5 ENSMUST00000020970.6 ENSMUST00000020970.7 ENSMUST00000020970.8 ENSMUST00000020970.9 NM_021384 Q3U5I6 Q3U5T4 Q3U622 Q3U627 Q3U7I6 Q3U7M1 Q3U8F4 Q3U8U7 Q3U941 Q3U977 Q3U9E1 Q3U9J0 Q3U9J3 Q3UBW6 Q3UC07 Q3UDI0 Q6PEU4 Q8CBB9 Q8VHM2 Q9JHD4 RSAD2_MOUSE Rsad2 Vig1 uc007nfh.1 uc007nfh.2 uc007nfh.3 uc007nfh.4 Interferon-inducible antiviral protein which plays a major role in the cell antiviral state induced by type I and type II interferon. Catalyzes the conversion of cytidine triphosphate (CTP) to 3'-deoxy-3',4'-didehydro-CTP (ddhCTP) via a SAM-dependent radical mechanism. In turn, ddhCTP acts as a chain terminator for the RNA- dependent RNA polymerases from multiple viruses and directly inhibits viral replication. Therefore, inhibits a wide range of DNA and RNA viruses (By similarity). Promotes also TLR7 and TLR9-dependent production of IFN-beta production in plasmacytoid dendritic cells (pDCs) by facilitating 'Lys-63'-linked ubiquitination of IRAK1 by TRAF6. Plays a role in CD4+ T-cells activation and differentiation. Facilitates T-cell receptor (TCR)-mediated GATA3 activation and optimal T-helper 2 (Th2) cytokine production by modulating NFKB1 and JUNB activities. Can inhibit secretion of soluble proteins (By similarity) (PubMed:17686841, PubMed:19047684, PubMed:21435586, PubMed:21880757). Reaction=AH2 + CTP + S-adenosyl-L-methionine = 3'-deoxy-3',4'- didehydro-CTP + 5'-deoxyadenosine + A + H(+) + H2O + L-methionine; Xref=Rhea:RHEA:65944, ChEBI:CHEBI:13193, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17319, ChEBI:CHEBI:17499, ChEBI:CHEBI:37563, ChEBI:CHEBI:57844, ChEBI:CHEBI:59789, ChEBI:CHEBI:166821; Evidence=; Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Evidence= Note=Binds 1 [4Fe-4S] cluster. The cluster is coordinated with 3 cysteines and an exchangeable S-adenosyl-L-methionine. IRAK1 and TRAF6 synergistically activate RSAD2 increasing its activity with CTP as substrate about 10-fold. Homodimer. Interacts with IRAK1 and TRAF6 (PubMed:21435586). Interacts with FPPS. Interacts with HADHB. Interacts (via C-terminus) with VAPA/VAP33 (via C-terminus) (By similarity). Endoplasmic reticulum membrane ; Peripheral membrane protein ; Cytoplasmic side Golgi apparatus Endoplasmic reticulum Lipid droplet Mitochondrion Mitochondrion inner membrane Mitochondrion outer membrane Expressed at higher levels in atherosclerotic arteries than in normal arteries. By interferon type I, type II and LPS. Induced by infection with Vesicular stomatitis virus and pseudorabies virus in dendritic cells, presumably through type I interferon pathway. The N-terminal region (1-43) is necessary for its localization to the endoplasmic reticulum membrane and lipid droplet. Acetylated by HAT1. HAT1-mediated acetylation of Lys-198 in turn recruits UBE4A that stimulates RSAD2 polyubiquitination leading to proteasomal degradation. 'Lys-6'-linked polyubiquitination at Lys-207 leads to RSAD2 protein degradation. Belongs to the radical SAM superfamily. RSAD2 family. Sequence=BAE29281.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; ossification fibrillar center immune system process molecular_function catalytic activity protein binding mitochondrion mitochondrial outer membrane mitochondrial inner membrane endoplasmic reticulum endoplasmic reticulum membrane lipid particle response to virus membrane regulation of ossification positive regulation of toll-like receptor 7 signaling pathway positive regulation of toll-like receptor 9 signaling pathway CD4-positive, alpha-beta T cell activation CD4-positive, alpha-beta T cell differentiation protein self-association negative regulation of viral genome replication innate immune response metal ion binding negative regulation of protein secretion iron-sulfur cluster binding 4 iron, 4 sulfur cluster binding defense response to virus positive regulation of T-helper 2 cell cytokine production uc007nfh.1 uc007nfh.2 uc007nfh.3 uc007nfh.4 
ENSMUST00000020971.14 Rnf144a ENSMUST00000020971.14 ring finger protein 144A, transcript variant 9 (from RefSeq NM_001413486.1) ENSMUST00000020971.1 ENSMUST00000020971.10 ENSMUST00000020971.11 ENSMUST00000020971.12 ENSMUST00000020971.13 ENSMUST00000020971.2 ENSMUST00000020971.3 ENSMUST00000020971.4 ENSMUST00000020971.5 ENSMUST00000020971.6 ENSMUST00000020971.7 ENSMUST00000020971.8 ENSMUST00000020971.9 Kiaa0161 NM_001413486 Q3UZZ0 Q6A0B4 Q925F3 R144A_MOUSE Rnf144 Ubce7ip4 Uip4 uc007nff.1 uc007nff.2 uc007nff.3 uc007nff.4 E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates the ubiquitination and degradation of the DNA damage kinase PRKDC. Reaction=[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + [acceptor protein]-N(6)-ubiquitinyl-L-lysine.; EC=2.3.2.31; Evidence=; Protein modification; protein ubiquitination. Interacts with UBE2L3. Cell membrane ; Single-pass membrane protein Cytoplasmic vesicle membrane Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT- type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain. Autoubiquitinated. Belongs to the RBR family. RNF144 subfamily. Lacks the His residue in the RING-type domain 2 that is one of the conserved features of the family. Sequence=BAD32182.1; Type=Erroneous initiation; Evidence=; ubiquitin ligase complex protein polyubiquitination ubiquitin-protein transferase activity cytoplasm Golgi apparatus plasma membrane ubiquitin-dependent protein catabolic process membrane integral component of membrane protein ubiquitination transferase activity cytoplasmic vesicle membrane cytoplasmic vesicle ubiquitin conjugating enzyme binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process intracellular membrane-bounded organelle metal ion binding ubiquitin protein ligase activity uc007nff.1 uc007nff.2 uc007nff.3 uc007nff.4 
ENSMUST00000020977.4 Dus4l ENSMUST00000020977.4 dihydrouridine synthase 4 like, transcript variant 7 (from RefSeq NR_184679.1) A0A0R4J016 A0A0R4J016_MOUSE Dus4l ENSMUST00000020977.1 ENSMUST00000020977.2 ENSMUST00000020977.3 NR_184679 uc007nhr.1 uc007nhr.2 uc007nhr.3 Catalyzes the synthesis of dihydrouridine, a modified base found in the D-loop of most tRNAs. Name=FMN; Xref=ChEBI:CHEBI:58210; Evidence= Belongs to the dus family. tRNA dihydrouridine synthesis catalytic activity tRNA processing oxidoreductase activity tRNA dihydrouridine synthase activity flavin adenine dinucleotide binding oxidation-reduction process uc007nhr.1 uc007nhr.2 uc007nhr.3 
ENSMUST00000020980.12 Rrm2 ENSMUST00000020980.12 ribonucleotide reductase M2 (from RefSeq NM_009104.2) ENSMUST00000020980.1 ENSMUST00000020980.10 ENSMUST00000020980.11 ENSMUST00000020980.2 ENSMUST00000020980.3 ENSMUST00000020980.4 ENSMUST00000020980.5 ENSMUST00000020980.6 ENSMUST00000020980.7 ENSMUST00000020980.8 ENSMUST00000020980.9 NM_009104 P11157 Q3UI23 Q542E2 RIR2_MOUSE uc007ner.1 uc007ner.2 uc007ner.3 uc007ner.4 Provides the precursors necessary for DNA synthesis. Catalyzes the biosynthesis of deoxyribonucleotides from the corresponding ribonucleotides. Inhibits Wnt signaling (By similarity). Reaction=[thioredoxin]-disulfide + a 2'-deoxyribonucleoside 5'- diphosphate + H2O = [thioredoxin]-dithiol + a ribonucleoside 5'- diphosphate; Xref=Rhea:RHEA:23252, Rhea:RHEA-COMP:10698, Rhea:RHEA- COMP:10700, ChEBI:CHEBI:15377, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57930, ChEBI:CHEBI:73316; EC=1.17.4.1; Evidence=; Name=Fe cation; Xref=ChEBI:CHEBI:24875; Note=Binds 2 iron ions per subunit.; Heterodimer of a large and a small subunit. Interacts (via Cy motif and when phosphorylated at Thr-33) with CCNF; the interaction occurs exclusively in G2 and early M (By similarity). Cytoplasm Nucleus Note=Localized to the cytoplasm in S phase cells. May localize to the nucleus in G2 phase cells. Phosphorylation on Ser-20 relieves the inhibitory effect on Wnt signaling (By similarity). Phosphorylated on Thr-33 by CDK1 and CDK2; predominantly in G2 and M phase (By similarity). Ubiquitinated by the SCF(CCNF) E3 ubiquitin-protein ligase complex; leading to its degradation by the proteasome. Two distinct regulatory sites have been defined: the specificity site, which controls substrate specificity, and the activity site which regulates overall catalytic activity. A substrate- binding catalytic site, located on M1, is formed only in the presence of the second subunit M2. Belongs to the ribonucleoside diphosphate reductase small chain family. ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor protein binding nuclear envelope cytoplasm cytosol ribonucleoside-diphosphate reductase complex DNA replication ferric iron binding deoxyribonucleotide metabolic process deoxyribonucleotide biosynthetic process oxidoreductase activity protein homodimerization activity metal ion binding protein heterotetramerization oxidation-reduction process uc007ner.1 uc007ner.2 uc007ner.3 uc007ner.4 
ENSMUST00000020982.7 Klf11 ENSMUST00000020982.7 Kruppel-like transcription factor 11 (from RefSeq NM_178357.3) ENSMUST00000020982.1 ENSMUST00000020982.2 ENSMUST00000020982.3 ENSMUST00000020982.4 ENSMUST00000020982.5 ENSMUST00000020982.6 KLF11_MOUSE Klf11 NM_178357 Q8BHJ1 Q8BI37 Q8BI70 Q8K1S5 Tieg2b Tieg3 uc007neo.1 uc007neo.2 uc007neo.3 uc007neo.4 Transcription factor. Activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta-globin gene and represses promoters containing SP1-like binding sites inhibiting cell growth (By similarity). Represses transcription of SMAD7 which enhances TGF-beta signaling. Induces apoptosis. Interacts with SIN3A. Nucleus By TGF-beta. Expressed in a circadian manner in the kidney and epididymal fat tissue. Mice breed normally and are fertile. Hematopoiesis at all stages of development is normal and there is no effect on globin gene expression or longevity. Belongs to the Sp1 C2H2-type zinc-finger protein family. Sequence=BAC34099.1; Type=Frameshift; Evidence=; regulation of transcription involved in G1/S transition of mitotic cell cycle negative regulation of transcription from RNA polymerase II promoter RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm cytosol focal adhesion regulation of transcription from RNA polymerase II promoter apoptotic process negative regulation of cell proliferation nuclear body positive regulation of apoptotic process transcription regulatory region DNA binding negative regulation of transcription, DNA-templated metal ion binding cellular response to peptide hemopoiesis uc007neo.1 uc007neo.2 uc007neo.3 uc007neo.4 
ENSMUST00000020986.15 Dnajc27 ENSMUST00000020986.15 DnaJ heat shock protein family (Hsp40) member C27 (from RefSeq NM_153082.4) DJC27_MOUSE ENSMUST00000020986.1 ENSMUST00000020986.10 ENSMUST00000020986.11 ENSMUST00000020986.12 ENSMUST00000020986.13 ENSMUST00000020986.14 ENSMUST00000020986.2 ENSMUST00000020986.3 ENSMUST00000020986.4 ENSMUST00000020986.5 ENSMUST00000020986.6 ENSMUST00000020986.7 ENSMUST00000020986.8 ENSMUST00000020986.9 NM_153082 Q8BX00 Q8CFP6 Q923I0 Rabj Rbj uc007mxj.1 uc007mxj.2 uc007mxj.3 uc007mxj.4 GTPase which can activate the MEK/ERK pathway and induce cell transformation when overexpressed. May act as a nuclear scaffold for MAPK1, probably by association with MAPK1 nuclear export signal leading to enhanced ERK1/ERK2 signaling. Interacts directly with MAPK1 (wild-type and kinase-deficient forms). Interacts directly (in GTP-bound form) with MAP2K1 (wild-type and kinase-deficient forms). Q8CFP6; P31938: Map2k1; NbExp=3; IntAct=EBI-9548773, EBI-298860; Nucleus Belongs to the small GTPase superfamily. Rab family. nucleotide binding GTPase activity protein binding GTP binding nucleus mitochondrion intracellular protein transport Rab protein signal transduction positive regulation of MAPK cascade positive regulation of ERK1 and ERK2 cascade regulation of MAPK export from nucleus uc007mxj.1 uc007mxj.2 uc007mxj.3 uc007mxj.4 
ENSMUST00000020990.7 Pomc ENSMUST00000020990.7 pro-opiomelanocortin-alpha, transcript variant 4 (from RefSeq NM_008895.4) COLI_MOUSE ENSMUST00000020990.1 ENSMUST00000020990.2 ENSMUST00000020990.3 ENSMUST00000020990.4 ENSMUST00000020990.5 ENSMUST00000020990.6 NM_008895 P01193 P01200 Pomc1 Q544U4 uc007mxe.1 uc007mxe.2 uc007mxe.3 uc007mxe.4 This gene encodes a polypeptide hormone precursor that undergoes extensive, tissue-specific, post-translational processing. Processing yields several biologically active peptides, which are involved in diverse cellular functions, such as energy homeostasis, steroidogenesis, and increased melanin production in melanocytes. In mouse deficiency of this gene is associated with obesity, defects in adrenal development, and altered pigmentation. A pseudogene of this gene is located on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]. [Corticotropin]: Stimulates the adrenal glands to release cortisol. [Melanocyte-stimulating hormone alpha]: Anorexigenic peptide. Increases the pigmentation of skin by increasing melanin production in melanocytes. [Melanocyte-stimulating hormone beta]: Increases the pigmentation of skin by increasing melanin production in melanocytes. [Beta-endorphin]: Endogenous orexigenic opiate. [Met-enkephalin]: Endogenous opiate. Secreted Note=Melanocyte-stimulating hormone alpha and beta-endorphin are stored in separate granules in hypothalamic POMC neurons, suggesting that secretion may be under the control of different regulatory mechanisms. ACTH and MSH are produced by the pituitary gland. [Beta-endorphin]: In hypothalamic paraventricular nucleus (PVN), up-regulated by cannabinoids, including the CNR1/CB1R agonist arachidonyl-29-chloroethylamide (ACEA) (at protein level). Specific enzymatic cleavages at paired basic residues yield the different active peptides. Belongs to the POMC family. G-protein coupled receptor binding receptor binding hormone activity protein binding extracellular region extracellular space cytoplasm peroxisomal matrix generation of precursor metabolites and energy signal transduction neuropeptide signaling pathway cell-cell signaling regulation of blood pressure secretory granule killing of cells of other organism type 3 melanocortin receptor binding type 4 melanocortin receptor binding regulation of appetite negative regulation of tumor necrosis factor production cellular pigmentation modification of morphology or physiology of other organism glucose homeostasis positive regulation of transcription from RNA polymerase II promoter regulation of glycogen metabolic process positive regulation of neutrophil mediated killing of fungus type 1 melanocortin receptor binding regulation of corticosterone secretion uc007mxe.1 uc007mxe.2 uc007mxe.3 uc007mxe.4 
ENSMUST00000020991.15 Dnmt3a ENSMUST00000020991.15 DNA methyltransferase 3A, transcript variant 1 (from RefSeq NM_007872.5) DNM3A_MOUSE Dnmt3a ENSMUST00000020991.1 ENSMUST00000020991.10 ENSMUST00000020991.11 ENSMUST00000020991.12 ENSMUST00000020991.13 ENSMUST00000020991.14 ENSMUST00000020991.2 ENSMUST00000020991.3 ENSMUST00000020991.4 ENSMUST00000020991.5 ENSMUST00000020991.6 ENSMUST00000020991.7 ENSMUST00000020991.8 ENSMUST00000020991.9 NM_007872 O88508 Q3TZK8 Q3UH24 Q8CJ60 Q922J0 Q9CSE1 uc007mxb.1 uc007mxb.2 uc007mxb.3 This is one of two related genes encoding de novo DNA methyltransferases, which are responsible for the establishment of DNA methylation patterns in embryos. Loss of function of this gene causes developmental defects in multiple different organ systems. There is a pseudogene for this gene located on chromosome 3. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Nov 2012]. Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development (PubMed:9662389, PubMed:11399089, PubMed:10555141, PubMed:11919202, PubMed:16567415, PubMed:17713477). DNA methylation is coordinated with methylation of histones (PubMed:9662389, PubMed:11399089, PubMed:10555141, PubMed:11919202, PubMed:16567415, PubMed:17713477). It modifies DNA in a non-processive manner and also methylates non-CpG sites (PubMed:9662389, PubMed:11399089, PubMed:10555141, PubMed:11919202, PubMed:16567415, PubMed:17713477). May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1 (PubMed:18823905). Plays a role in paternal and maternal imprinting (PubMed:15215868). Required for methylation of most imprinted loci in germ cells (PubMed:15215868). Acts as a transcriptional corepressor for ZBTB18 (PubMed:11350943). Recruited to trimethylated 'Lys-36' of histone H3 (H3K36me3) sites (PubMed:20547484). Can actively repress transcription through the recruitment of HDAC activity (PubMed:11350943). Also has weak auto- methylation activity on Cys-706 in absence of DNA (PubMed:21481189). Reaction=a 2'-deoxycytidine in DNA + S-adenosyl-L-methionine = a 5- methyl-2'-deoxycytidine in DNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:13681, Rhea:RHEA-COMP:11369, Rhea:RHEA-COMP:11370, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:85452, ChEBI:CHEBI:85454; EC=2.1.1.37; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:13682; Evidence=; Reaction=L-cysteinyl-[protein] + S-adenosyl-L-methionine = H(+) + S- adenosyl-L-homocysteine + S-methyl-L-cysteinyl-[protein]; Xref=Rhea:RHEA:66544, Rhea:RHEA-COMP:10131, Rhea:RHEA-COMP:10132, ChEBI:CHEBI:15378, ChEBI:CHEBI:29950, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:82612; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:66545; Evidence=; Activated by binding to the regulatory factor DNMT3L (PubMed:15671018, PubMed:17713477, PubMed:21481189). Auto- methylation at Cys-706 in absence of DNA inactivates the DNA methyltransferase activity (PubMed:21481189). Heterotetramer composed of 1 DNMT3A homodimer and 2 DNMT3L subunits (DNMT3L-DNMT3A-DNMT3A-DNMT3L) (By similarity). Interacts with DNMT1 and DNMT3B (By similarity). Interacts with MPHOSPH8 (By similarity). Interacts with histone H3 that is not methylated at 'Lys- 4' (H3K4) (By similarity). Binds the ZBTB18 transcriptional repressor (PubMed:11350943). Interacts with SETDB1 (By similarity). Associates with HDAC1 through its ADD domain (PubMed:11350943, PubMed:12616525). Interacts with UHRF1 (PubMed:19798101). Interacts with the PRC2/EED- EZH2 complex (PubMed:16357870). Interacts with UBC9, PIAS1 and PIAS2 (PubMed:14752048). Interacts with SPOCD1 (PubMed:32674113). Interacts with ZNF263; recruited to the SIX3 promoter along with other proteins involved in chromatin modification and transcriptional corepression where it contributes to transcriptional repression (By similarity). O88508; Q9CWR8: Dnmt3l; NbExp=6; IntAct=EBI-995154, EBI-3043871; O88508; Q60848: Hells; NbExp=4; IntAct=EBI-995154, EBI-3043887; O88508; P51608-1: MECP2; Xeno; NbExp=10; IntAct=EBI-995154, EBI-26687319; O88508-1; Q9CWR8: Dnmt3l; NbExp=6; IntAct=EBI-15650457, EBI-3043871; O88508-1; Q9Z148-2: Ehmt2; NbExp=3; IntAct=EBI-15650457, EBI-15737169; Nucleus romosome Cytoplasm Note=Accumulates in the major satellite repeats at pericentric heterochromatin. Event=Alternative promoter usage; Named isoforms=2; Name=1; IsoId=O88508-1; Sequence=Displayed; Name=2; IsoId=O88508-2; Sequence=VSP_009423; Isoform 1 is expressed ubiquitously at low levels. Expression of isoform 2 is restricted to tissues containing cells which are undergoing active de novo methylation, including spleen, testis and thymus. At 7.5 dpc, the protein is moderately expressed in embryonic ectoderm and weakly in mesodermal cells. At 8.5 dpc and 9.5 dpc, the expression become ubiquitous with an increase in the somites and in the ventral part of the embryo. The PWWP domain is essential for targeting to pericentric heterochromatin. It specifically recognizes and binds trimethylated 'Lys-36' of histone H3 (H3K36me3) (PubMed:20547484). Auto-methylated at Cys-706: auto-methylation takes place in absence of DNA substrate and inactivates the DNA methyltransferase activity (PubMed:21481189). Inactivation by auto-methylation may be used to inactivate unused DNA methyltransferases in the cell (PubMed:21481189). Sumoylated; sumoylation disrupts the ability to interact with histone deacetylases (HDAC1 and HDAC2) and repress transcription. Belongs to the class I-like SAM-binding methyltransferase superfamily. C5-methyltransferase family. Sequence=BAB28644.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; negative regulation of transcription from RNA polymerase II promoter mitotic cell cycle chromosome, centromeric region euchromatin heterochromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding XY body DNA binding chromatin binding DNA (cytosine-5-)-methyltransferase activity protein binding nucleus nucleoplasm nuclear heterochromatin cytoplasm DNA methylation chromatin organization methylation-dependent chromatin silencing regulation of gene expression by genetic imprinting spermatogenesis aging transcription factor binding methyltransferase activity DNA-methyltransferase activity response to toxic substance response to ionizing radiation maintenance of DNA methylation response to lead ion regulation of gene expression positive regulation of cell death nuclear matrix transferase activity neuron differentiation response to nutrient levels methylation response to estradiol DNA methylation on cytosine response to vitamin A response to cocaine response to drug identical protein binding DNA methylation involved in embryo development DNA methylation involved in gamete generation hypermethylation of CpG island response to ethanol metal ion binding DNA (cytosine-5-)-methyltransferase activity, acting on CpN substrates cellular response to amino acid stimulus cellular response to ethanol cellular response to hypoxia C-5 methylation of cytosine hepatocyte apoptotic process uc007mxb.1 uc007mxb.2 uc007mxb.3 
ENSMUST00000020997.15 Sh3yl1 ENSMUST00000020997.15 Sh3 domain YSC-like 1, transcript variant 4 (from RefSeq NR_186254.1) ENSMUST00000020997.1 ENSMUST00000020997.10 ENSMUST00000020997.11 ENSMUST00000020997.12 ENSMUST00000020997.13 ENSMUST00000020997.14 ENSMUST00000020997.2 ENSMUST00000020997.3 ENSMUST00000020997.4 ENSMUST00000020997.5 ENSMUST00000020997.6 ENSMUST00000020997.7 ENSMUST00000020997.8 ENSMUST00000020997.9 NR_186254 O08641 Q6P7V3 Q6PDR3 SH3Y1_MOUSE uc007ngz.1 uc007ngz.2 uc007ngz.3 uc007ngz.4 Interacts with SH3D19. O08641; Q91X43: Sh3d19; NbExp=3; IntAct=EBI-2024519, EBI-2024543; Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O08641-1; Sequence=Displayed; Name=2; IsoId=O08641-2; Sequence=VSP_034336; Name=3; IsoId=O08641-3; Sequence=VSP_034337; Expressed in skin, kidney, stomach, small intestine and colon. Highly expressed in the anagen hair follicle. In hair, it is expressed predominantly in the hair bulb, the hair shaft, inner root sheath, and outer root sheath in the lower half of the follicle. In skin, expression follows hair-growth cycle, increasing significantly during mid and late anagen phases, and decreases during catagen, telogen and early anagen phases. Belongs to the SH3YL1 family. protein binding phosphatidylinositol biosynthetic process phosphatase binding ruffle membrane phosphatidylinositol binding regulation of ruffle assembly uc007ngz.1 uc007ngz.2 uc007ngz.3 uc007ngz.4 
ENSMUST00000020999.7 Kif3c ENSMUST00000020999.7 kinesin family member 3C (from RefSeq NM_008445.2) ENSMUST00000020999.1 ENSMUST00000020999.2 ENSMUST00000020999.3 ENSMUST00000020999.4 ENSMUST00000020999.5 ENSMUST00000020999.6 KIF3C_MOUSE NM_008445 O35066 O35229 Q3UH55 uc007mwm.1 uc007mwm.2 uc007mwm.3 Microtubule-based anterograde translocator for membranous organelles. Heterodimer of KIF3A and KIF3C. Cytoplasm, cytoskeleton Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Kinesin II subfamily. nucleotide binding microtubule motor activity protein binding ATP binding cytoplasm cytosol cytoskeleton kinesin complex microtubule microtubule-based movement microtubule binding synaptic vesicle positive regulation of neuron projection development membrane ATPase activity kinesin binding axon dendrite growth cone microtubule plus-end neuronal cell body neuronal ribonucleoprotein granule organelle transport along microtubule uc007mwm.1 uc007mwm.2 uc007mwm.3 
ENSMUST00000021001.10 Rab10 ENSMUST00000021001.10 RAB10, member RAS oncogene family (from RefSeq NM_016676.5) ENSMUST00000021001.1 ENSMUST00000021001.2 ENSMUST00000021001.3 ENSMUST00000021001.4 ENSMUST00000021001.5 ENSMUST00000021001.6 ENSMUST00000021001.7 ENSMUST00000021001.8 ENSMUST00000021001.9 NM_016676 Q4FJL0 Q4FJL0_MOUSE Rab10 uc007mwl.1 uc007mwl.2 uc007mwl.3 Cytoplasmic vesicle, phagosome membrane Golgi apparatus, trans-Golgi network membrane Membrane ; Lipid-anchor ; Cytoplasmic side Recycling endosome membrane Belongs to the small GTPase superfamily. Rab family. GTPase activity GTP binding endosome endoplasmic reticulum membrane Golgi apparatus plasma membrane cilium endosomal transport GDP binding antigen processing and presentation myosin V binding insulin-responsive compartment regulated exocytosis recycling endosome exocytic vesicle endoplasmic reticulum tubular network endoplasmic reticulum tubular network organization establishment of protein localization to membrane establishment of protein localization to endoplasmic reticulum membrane uc007mwl.1 uc007mwl.2 uc007mwl.3 
ENSMUST00000021004.14 Sntg2 ENSMUST00000021004.14 syntrophin, gamma 2, transcript variant 5 (from RefSeq NR_136915.1) B2RSQ0 ENSMUST00000021004.1 ENSMUST00000021004.10 ENSMUST00000021004.11 ENSMUST00000021004.12 ENSMUST00000021004.13 ENSMUST00000021004.2 ENSMUST00000021004.3 ENSMUST00000021004.4 ENSMUST00000021004.5 ENSMUST00000021004.6 ENSMUST00000021004.7 ENSMUST00000021004.8 ENSMUST00000021004.9 NR_136915 Q925E0 SNTG2_MOUSE uc007ngr.1 uc007ngr.2 uc007ngr.3 uc007ngr.4 uc007ngr.5 Adapter protein that binds to and probably organizes the subcellular localization of a variety of proteins. May link various receptors to the actin cytoskeleton and the dystrophin glycoprotein complex (By similarity). Interacts with the dystrophin protein DMD and related proteins DTNA and DTNB. Q925E0; P25100: ADRA1D; Xeno; NbExp=2; IntAct=EBI-8521556, EBI-489993; Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane. The association with dystrophin or related proteins probably leaves the PDZ domain available to recruit proteins to the membrane. Belongs to the syntrophin family. actin binding structural molecule activity protein binding cytoplasm cytoskeleton plasma membrane dystrophin-associated glycoprotein complex membrane PDZ domain binding sarcolemma neuroligin family protein binding uc007ngr.1 uc007ngr.2 uc007ngr.3 uc007ngr.4 uc007ngr.5 
ENSMUST00000021005.15 Tpo ENSMUST00000021005.15 thyroid peroxidase (from RefSeq NM_009417.3) ENSMUST00000021005.1 ENSMUST00000021005.10 ENSMUST00000021005.11 ENSMUST00000021005.12 ENSMUST00000021005.13 ENSMUST00000021005.14 ENSMUST00000021005.2 ENSMUST00000021005.3 ENSMUST00000021005.4 ENSMUST00000021005.5 ENSMUST00000021005.6 ENSMUST00000021005.7 ENSMUST00000021005.8 ENSMUST00000021005.9 NM_009417 P35419 PERT_MOUSE Q8C8B1 uc007ngo.1 uc007ngo.2 uc007ngo.3 uc007ngo.4 This gene encodes a membrane-bound glycoprotein. The encoded enzyme plays a central role in thyroid gland function. The enzyme functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mice with homozygous missense mutations in this gene exhibit hypothyroid dwarfism and hearing impairment. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: X60703.1, AK047843.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4). Reaction=2 H(+) + H2O2 + 2 iodide = diiodine + 2 H2O; Xref=Rhea:RHEA:23336, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16240, ChEBI:CHEBI:16382, ChEBI:CHEBI:17606; EC=1.11.1.8; Evidence=; Reaction=[thyroglobulin]-L-tyrosine + H(+) + H2O2 + iodide = [thyroglobulin]-3-iodo-L-tyrosine + 2 H2O; Xref=Rhea:RHEA:48956, Rhea:RHEA-COMP:12274, Rhea:RHEA-COMP:12275, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16240, ChEBI:CHEBI:16382, ChEBI:CHEBI:46858, ChEBI:CHEBI:90870; EC=1.11.1.8; Evidence=; Reaction=[thyroglobulin]-3-iodo-L-tyrosine + H(+) + H2O2 + iodide = [thyroglobulin]-3,5-diiodo-L-tyrosine + 2 H2O; Xref=Rhea:RHEA:48960, Rhea:RHEA-COMP:12275, Rhea:RHEA-COMP:12276, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16240, ChEBI:CHEBI:16382, ChEBI:CHEBI:90870, ChEBI:CHEBI:90871; EC=1.11.1.8; Evidence=; Reaction=2 [thyroglobulin]-3,5-diiodo-L-tyrosine + H2O2 = [thyroglobulin]-dehydroalanine + [thyroglobulin]-L-thyroxine + 2 H2O; Xref=Rhea:RHEA:48964, Rhea:RHEA-COMP:12276, Rhea:RHEA-COMP:12277, Rhea:RHEA-COMP:12278, ChEBI:CHEBI:15377, ChEBI:CHEBI:16240, ChEBI:CHEBI:90871, ChEBI:CHEBI:90872, ChEBI:CHEBI:90873; EC=1.11.1.8; Evidence=; Reaction=[thyroglobulin]-3,5-diiodo-L-tyrosine + [thyroglobulin]-3- iodo-L-tyrosine + H2O2 = [thyroglobulin]-3,3',5-triiodo-L-thyronine + [thyroglobulin]-dehydroalanine + 2 H2O; Xref=Rhea:RHEA:48968, Rhea:RHEA-COMP:12275, Rhea:RHEA-COMP:12276, Rhea:RHEA-COMP:12278, Rhea:RHEA-COMP:12279, ChEBI:CHEBI:15377, ChEBI:CHEBI:16240, ChEBI:CHEBI:90870, ChEBI:CHEBI:90871, ChEBI:CHEBI:90873, ChEBI:CHEBI:90874; EC=1.11.1.8; Evidence=; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Note=Binds 1 Ca(2+) ion per heterodimer. Name=heme b; Xref=ChEBI:CHEBI:60344; Evidence=; Note=Binds 1 heme b (iron(II)-protoporphyrin IX) group covalently per heterodimer. ; Hormone biosynthesis; thyroid hormone biosynthesis. Interacts with DUOX1, DUOX2 and CYBA. Membrane ; Single-pass type I membrane protein Heme is covalently bound through a H(2)O(2)-dependent autocatalytic process. Heme insertion is important for the delivery of protein at the cell surface (By similarity). Cleaved in its N-terminal part. Belongs to the peroxidase family. XPO subfamily. iodide peroxidase activity peroxidase activity calcium ion binding extracellular space mitochondrion plasma membrane thyroid hormone generation response to oxidative stress cell surface membrane integral component of membrane oxidoreductase activity heme binding embryonic hemopoiesis hormone biosynthetic process hydrogen peroxide catabolic process metal ion binding oxidation-reduction process cellular oxidant detoxification uc007ngo.1 uc007ngo.2 uc007ngo.3 uc007ngo.4 
ENSMUST00000021011.3 Ccl7 ENSMUST00000021011.3 C-C motif chemokine ligand 7 (from RefSeq NM_013654.3) CCL7_MOUSE ENSMUST00000021011.1 ENSMUST00000021011.2 Fic Mcp3 NM_013654 Q03366 Scya7 uc007kmq.1 uc007kmq.2 uc007kmq.3 uc007kmq.4 Chemotactic factor that attracts monocytes and eosinophils, but not neutrophils. Augments monocyte anti-tumor activity (By similarity). Monomer. Interacts with TNFAIP6 (via Link domain). Secreted. Belongs to the intercrine beta (chemokine CC) family. monocyte chemotaxis cytokine activity extracellular region extracellular space chemotaxis inflammatory response immune response cytoskeleton organization G-protein coupled receptor signaling pathway chemokine activity heparin binding regulation of cell shape response to gamma radiation positive regulation of cell migration neutrophil chemotaxis CCR1 chemokine receptor binding CCR2 chemokine receptor binding positive regulation of GTPase activity CCR chemokine receptor binding eosinophil chemotaxis lymphocyte chemotaxis chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor cellular response to ethanol positive regulation of natural killer cell chemotaxis uc007kmq.1 uc007kmq.2 uc007kmq.3 uc007kmq.4 
ENSMUST00000021018.11 Taf15 ENSMUST00000021018.11 TATA-box binding protein associated factor 15 (from RefSeq NM_027427.3) ENSMUST00000021018.1 ENSMUST00000021018.10 ENSMUST00000021018.2 ENSMUST00000021018.3 ENSMUST00000021018.4 ENSMUST00000021018.5 ENSMUST00000021018.6 ENSMUST00000021018.7 ENSMUST00000021018.8 ENSMUST00000021018.9 NM_027427 Q8BQ46 Q8BQ46_MOUSE Taf15 uc007kpf.1 uc007kpf.2 uc007kpf.3 Nucleus Belongs to the RRM TET family. nucleic acid binding RNA binding mRNA 3'-UTR binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated RNA splicing gene expression metal ion binding mRNA stabilization uc007kpf.1 uc007kpf.2 uc007kpf.3 
ENSMUST00000021028.5 Itgb3 ENSMUST00000021028.5 integrin beta 3 (from RefSeq NM_016780.2) ENSMUST00000021028.1 ENSMUST00000021028.2 ENSMUST00000021028.3 ENSMUST00000021028.4 ITB3_MOUSE Itgb3 NM_016780 O54890 Q3TZC6 uc011ygd.1 uc011ygd.2 uc011ygd.3 uc011ygd.4 Integrin alpha-V/beta-3 (ITGAV:ITGB3) is a receptor for cytotactin, fibronectin, laminin, matrix metalloproteinase-2, osteopontin, osteomodulin, prothrombin, thrombospondin, vitronectin and von Willebrand factor. Integrin alpha-IIB/beta-3 (ITGA2B:ITGB3) is a receptor for fibronectin, fibrinogen, plasminogen, prothrombin, thrombospondin and vitronectin. Integrins alpha-IIB/beta-3 and alpha- V/beta-3 recognize the sequence R-G-D in a wide array of ligands. Integrin alpha-IIB/beta-3 recognizes the sequence H-H-L-G-G-G-A-K-Q-A- G-D-V in fibrinogen gamma chain. Following activation integrin alpha- IIB/beta-3 brings about platelet/platelet interaction through binding of soluble fibrinogen. This step leads to rapid platelet aggregation which physically plugs ruptured endothelial surfaces. Fibrinogen binding enhances SELP expression in activated platelets (PubMed:19332769). ITGAV:ITGB3 binds to fractalkine (CX3CL1) and acts as its coreceptor in CX3CR1-dependent fractalkine signaling. ITGAV:ITGB3 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling. ITGAV:ITGB3 binds to FGF1 and this binding is essential for FGF1 signaling. ITGAV:ITGB3 binds to FGF2 and this binding is essential for FGF2 signaling (By similarity). ITGAV:ITGB3 binds to IGF1 and this binding is essential for IGF1 signaling (By similarity). ITGAV:ITGB3 binds to IGF2 and this binding is essential for IGF2 signaling (By similarity). ITGAV:ITGB3 binds to IL1B and this binding is essential for IL1B signaling (By similarity). ITGAV:ITGB3 binds to PLA2G2A via a site (site 2) which is distinct from the classical ligand-binding site (site 1) and this induces integrin conformational changes and enhanced ligand binding to site 1 (By similarity). ITGAV:ITGB3 acts as a receptor for fibrillin-1 (FBN1) and mediates R-G-D-dependent cell adhesion to FBN1 (By similarity). ITGAV:ITGB3 binds to the Lilrb4a/Gp49b receptor and enhances the Lilrb4a-mediated inhibition of mast cell activation (PubMed:11323698). ITGAV:ITGB3 also suppresses marginal zone B cell antibody production through its interaction with Lilrb4a (PubMed:24935931). In brain, plays a role in synaptic transmission and plasticity (PubMed:29038237, PubMed:18549786). Involved in the regulation of the serotonin neurotransmission, is required to localize to specific compartments within the synapse the serotonin receptor SLC6A4 and for an appropriate reuptake of serotonin (PubMed:29038237). Controls excitatory synaptic strength by regulating GRIA2-containing AMPAR endocytosis, which affects AMPAR abundance and composition (PubMed:18549786). ITGAV:ITGB3 act as a receptor for CD40LG (By similarity). Heterodimer of an alpha and a beta subunit (By similarity). Beta-3 (ITGB3) associates with either alpha-IIB (ITGA2B) or alpha-V (ITGAV). Interacts with FLNB and COMP (By similarity). Interacts with PDIA6 following platelet stimulation (By similarity). Interacts with SYK; upon activation by ITGB3 promotes platelet adhesion (By similarity). Interacts with MYO10 (By similarity). Interacts with DAB2 (PubMed:12606711). Interacts with FERMT2 (PubMed:18483218). Integrin ITGAV:ITGB3 interacts with FBLN5 (via N-terminus) (PubMed:11805835). Interacts with EMP2; regulates the levels of the heterodimer ITGA5:ITGB3 integrin expression on the plasma membrane (By similarity). ITGAV:ITGB3 interacts with CCN3 (By similarity). ITGAV:ITGB3 interacts with AGRA2 (By similarity). ITGAV:ITGB3 is found in a ternary complex with CX3CR1 and CX3CL1. ITGAV:ITGB3 is found in a ternary complex with NRG1 and ERBB3. ITGAV:ITGB3 is found in a ternary complex with FGF1 and FGFR1. ITGAV:ITGB3 interacts with FGF2; it is likely that FGF2 can simultaneously bind ITGAV:ITGB3 and FGF receptors (By similarity). ITGAV:ITGB3 binds to IL1B (By similarity). ITGAV:ITGB3 is found in a ternary complex with IGF1 and IGF1R (By similarity). ITGAV:ITGB3 interacts with IGF2 (By similarity). ITGAV:ITGB3 interacts with FBN1 (By similarity). ITGAV:ITGB3 interacts with CD9, CD81 and CD151 (via second extracellular domain) (By similarity). Interacts (via the allosteric site (site 2)) with CXCL12 in a CXCR4-independent manner (By similarity). Interacts with MXRA8/DICAM; the interaction inhibits ITGAV:ITGB3 heterodimer formation (PubMed:22492581). ITGAV:ITGB3 interacts with PTN. Forms a complex with PTPRZ1 and PTN that stimulates endothelial cell migration through ITGB3 Tyr-772 phosphorylation (By similarity). ITGAV:ITGB3 interacts with SLC6A4. Interacts with SLC6A4 (via C-terminus); this interaction regulates SLC6A4 trafficking (PubMed:29038237) (By similarity). ITGA2B:ITGB3 interacts with PPIA/CYPA; the interaction is ROS and PPIase activity-dependent and is increased in the presence of thrombin (PubMed:24429998). Interacts with tensin TNS3; TNS3 also interacts with PEAK1, thus acting as an adapter molecule to bridge the association of PEAK1 with ITGB3 (PubMed:35687021). Cell membrane ; Single-pass type I membrane protein Cell projection, lamellipodium membrane Cell junction, focal adhesion Postsynaptic cell membrane ; Single-pass type I membrane protein Synapse The VWFA domain (or beta I domain) contains three cation- binding sites: the ligand-associated metal ion-binding site (LIMBS or SyMBS), the metal ion-dependent adhesion site (MIDAS), and the adjacent MIDAS site (ADMIDAS). This domain is also part of the ligand-binding site. Phosphorylated on tyrosine residues in response to thrombin- induced platelet aggregation. Probably involved in outside-in signaling. Animals are viable and fertile. Belongs to the integrin beta chain family. positive regulation of endothelial cell proliferation positive regulation of cell-matrix adhesion fibronectin binding protease binding positive regulation of leukocyte migration protein disulfide isomerase activity protein kinase C binding integrin binding protein binding nucleus plasma membrane cell-cell junction focal adhesion cell-substrate junction assembly cell adhesion cell-matrix adhesion integrin-mediated signaling pathway embryo implantation regulation of G-protein coupled receptor protein signaling pathway integrin complex response to radiation external side of plasma membrane cell surface positive regulation of endothelial cell migration positive regulation of gene expression negative regulation of macrophage derived foam cell differentiation positive regulation of fibroblast migration negative regulation of lipid storage response to activity smooth muscle cell migration positive regulation of smooth muscle cell migration membrane integral component of membrane apical plasma membrane cell migration enzyme binding cell junction platelet activation regulation of cell migration positive regulation of cell migration lamellipodium membrane filopodium membrane microvillus membrane cell-substrate adhesion activation of protein kinase activity negative regulation of lipid transport ruffle membrane regulation of protein localization regulation of actin cytoskeleton organization macromolecular complex cell adhesion mediated by integrin positive regulation of cell adhesion mediated by integrin positive regulation of osteoblast proliferation heterotypic cell-cell adhesion substrate adhesion-dependent cell spreading integrin alpha9-beta1 complex integrin alphav-beta3 complex cellular response to drug alphav-beta3 integrin-PKCalpha complex alphav-beta3 integrin-IGF-1-IGF1R complex alphav-beta3 integrin-HMGB1 complex response to platelet-derived growth factor cellular response to platelet-derived growth factor stimulus apolipoprotein A-I-mediated signaling pathway melanosome identical protein binding cell projection vascular endothelial growth factor receptor 2 binding receptor complex apoptotic cell clearance synapse postsynaptic membrane positive regulation of osteoclast differentiation negative regulation of low-density lipoprotein particle receptor biosynthetic process positive regulation of angiogenesis positive regulation of bone resorption viral entry into host cell platelet-derived growth factor receptor signaling pathway positive regulation of fibroblast proliferation positive regulation of smooth muscle cell proliferation cell projection morphogenesis positive regulation of peptidyl-tyrosine phosphorylation negative regulation of lipoprotein metabolic process cell adhesion molecule binding extracellular matrix binding negative chemotaxis regulation of release of sequestered calcium ion into cytosol regulation of serotonin uptake negative regulation of cell death regulation of protein tyrosine kinase activity fibrinogen binding positive regulation of ERK1 and ERK2 cascade platelet aggregation alpha9-beta1 integrin-ADAM8 complex cellular response to mechanical stimulus positive regulation of glomerular mesangial cell proliferation glutamatergic synapse positive regulation of substrate adhesion-dependent cell spreading positive regulation of adenylate cyclase-inhibiting opioid receptor signaling pathway regulation of extracellular matrix organization cellular response to insulin-like growth factor stimulus positive regulation of T cell migration fibroblast growth factor binding C-X3-C chemokine binding insulin-like growth factor I binding neuregulin binding uc011ygd.1 uc011ygd.2 uc011ygd.3 uc011ygd.4 
ENSMUST00000021030.8 Mettl2 ENSMUST00000021030.8 methyltransferase 2, methylcytidine (from RefSeq NM_172567.3) D11Ertd768e ENSMUST00000021030.1 ENSMUST00000021030.2 ENSMUST00000021030.3 ENSMUST00000021030.4 ENSMUST00000021030.5 ENSMUST00000021030.6 ENSMUST00000021030.7 METL2_MOUSE Mettl2 NM_172567 Q3U5T7 Q5EBH8 Q8BMK1 Q8BXC2 uc007lxa.1 uc007lxa.2 uc007lxa.3 uc007lxa.4 S-adenosyl-L-methionine-dependent methyltransferase that mediates N(3)-methylcytidine modification of residue 32 of the tRNA anticodon loop of tRNA(Thr)(UGU) and tRNA(Arg)(CCU) (PubMed:28655767). N(3)-methylcytidine methylation by METTL2 requires the N6- threonylcarbamoylation of tRNA (t6A37) by the EKC/KEOPS complex as prerequisite (By similarity). Reaction=cytidine(32) in tRNA(Thr) + S-adenosyl-L-methionine = H(+) + N(3)-methylcytidine(32) in tRNA(Thr) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:50960, Rhea:RHEA-COMP:12850, Rhea:RHEA-COMP:12852, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74894, ChEBI:CHEBI:82748; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50961; Evidence=; Reaction=cytidine(32) in tRNA(Arg)(CCU) + S-adenosyl-L-methionine = H(+) + N(3)-methylcytidine(32) in tRNA(Arg)(CCU) + S-adenosyl-L- homocysteine; Xref=Rhea:RHEA:60912, Rhea:RHEA-COMP:15710, Rhea:RHEA- COMP:15712, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74894, ChEBI:CHEBI:82748; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60913; Evidence=; Monomer. Interacts with DALRD3. Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BMK1-1; Sequence=Displayed; Name=2; IsoId=Q8BMK1-2; Sequence=VSP_008479; Mice were born with normal Mendelian ratio without developmental defects (PubMed:28655767). Cells show reduced N(3)-methylcytidine modification in tRNA fractions (PubMed:28655767). Belongs to the methyltransferase superfamily. METL family. tRNA C5-cytosine methylation cellular_component methyltransferase activity tRNA (cytosine) methyltransferase activity tRNA (cytosine-5-)-methyltransferase activity transferase activity tRNA methylation methylation tRNA (cytosine-3-)-methyltransferase activity uc007lxa.1 uc007lxa.2 uc007lxa.3 uc007lxa.4 
ENSMUST00000021040.10 Cct6b ENSMUST00000021040.10 chaperonin containing TCP1 subunit 6B, transcript variant 1 (from RefSeq NM_009839.3) ENSMUST00000021040.1 ENSMUST00000021040.2 ENSMUST00000021040.3 ENSMUST00000021040.4 ENSMUST00000021040.5 ENSMUST00000021040.6 ENSMUST00000021040.7 ENSMUST00000021040.8 ENSMUST00000021040.9 NM_009839 Q61390 Q9R1U2 TCPW_MOUSE uc007kmx.1 uc007kmx.2 uc007kmx.3 uc007kmx.4 uc007kmx.5 Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. Component of the chaperonin-containing T-complex (TRiC), a heterooligomeric complex of about 850 to 900 kDa that forms two stacked rings, 12 to 16 nm in diameter. Cytoplasm Testis specific. Belongs to the TCP-1 chaperonin family. nucleotide binding ATP binding cytoplasm cytosol chaperonin-containing T-complex protein folding unfolded protein binding toxin transport uc007kmx.1 uc007kmx.2 uc007kmx.3 uc007kmx.4 uc007kmx.5 
ENSMUST00000021044.4 5530401A14Rik ENSMUST00000021044.4 RIKEN cDNA 5530401A14 gene (from RefSeq NR_038010.1) ENSMUST00000021044.1 ENSMUST00000021044.2 ENSMUST00000021044.3 NR_038010 uc288atp.1 uc288atp.2 uc288atp.1 uc288atp.2 
ENSMUST00000021046.6 Ddx42 ENSMUST00000021046.6 DEAD box helicase 42, transcript variant 1 (from RefSeq NM_028074.4) DDX42_MOUSE ENSMUST00000021046.1 ENSMUST00000021046.2 ENSMUST00000021046.3 ENSMUST00000021046.4 ENSMUST00000021046.5 NM_028074 Q3TAN3 Q3TE60 Q810A7 Q8BWZ7 Q9D8Q2 uc007lyk.1 uc007lyk.2 uc007lyk.3 uc007lyk.4 ATP-dependent RNA helicase that binds to partially double- stranded RNAs (dsRNAs) in order to unwind RNA secondary structures. Unwinding is promoted in the presence of single-strand binding proteins. Mediates also RNA duplex formation thereby displacing the single-strand RNA binding protein. ATP and ADP modulate its activity: ATP binding and hydrolysis by DDX42 triggers RNA strand separation, whereas the ADP-bound form of the protein triggers annealing of complementary RNA strands. Required for assembly of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs: DDX42 associates transiently with the SF3B subcomplex of the 17S U2 SnRNP complex and is released after fulfilling its role in the assembly of 17S U2 SnRNP. Involved in the survival of cells by interacting with TP53BP2 and thereby counteracting the apoptosis-stimulating activity of TP53BP2. Relocalizes TP53BP2 to the cytoplasm. Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Evidence=; Transient component of the SF3B subcomplex of the 17S U2 SnRNP complex. Interacts (via the C-terminus) with TP53BP2; the interaction is not inhibitied by TP53BP2 ubiquitination and is independent of p53/TP53. Cytoplasm Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q810A7-1; Sequence=Displayed; Name=2; IsoId=Q810A7-2; Sequence=VSP_023519; Belongs to the DEAD box helicase family. DDX42 subfamily. Sequence=AAH43036.4; Type=Erroneous initiation; Evidence=; nucleotide binding nucleic acid binding RNA binding RNA helicase activity helicase activity ATP binding nucleus cytoplasm cytosol protein localization Cajal body nuclear speck hydrolase activity regulation of apoptotic process uc007lyk.1 uc007lyk.2 uc007lyk.3 uc007lyk.4 
ENSMUST00000021048.7 Ftsj3 ENSMUST00000021048.7 FtsJ RNA 2'-O-methyltransferase 3 (from RefSeq NM_025310.3) ENSMUST00000021048.1 ENSMUST00000021048.2 ENSMUST00000021048.3 ENSMUST00000021048.4 ENSMUST00000021048.5 ENSMUST00000021048.6 NM_025310 Q3ULI1 Q921I7 Q9DBE9 SPB1_MOUSE uc007lym.1 uc007lym.2 uc007lym.3 RNA 2'-O-methyltransferase involved in the processing of the 34S pre-rRNA to 18S rRNA and in 40S ribosomal subunit formation. Reaction=a ribonucleotide in rRNA + S-adenosyl-L-methionine = a 2'-O- methylribonucleotide in rRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:48628, Rhea:RHEA-COMP:12164, Rhea:RHEA-COMP:12165, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:90675, ChEBI:CHEBI:90676; Evidence= Interacts with NIP7. Nucleus, nucleolus Citrullinated by PADI4. Belongs to the class I-like SAM-binding methyltransferase superfamily. RNA methyltransferase RlmE family. SPB1 subfamily. enzyme-directed rRNA 2'-O-methylation maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) RNA methylation nucleus nucleolus rRNA processing methyltransferase activity rRNA methyltransferase activity rRNA (uridine-2'-O-)-methyltransferase activity rRNA (guanine) methyltransferase activity transferase activity preribosome, large subunit precursor preribosome, small subunit precursor rRNA methylation methylation ribosome biogenesis uc007lym.1 uc007lym.2 uc007lym.3 
ENSMUST00000021049.9 Psmc5 ENSMUST00000021049.9 protease (prosome, macropain) 26S subunit, ATPase 5 (from RefSeq NM_008950.1) ENSMUST00000021049.1 ENSMUST00000021049.2 ENSMUST00000021049.3 ENSMUST00000021049.4 ENSMUST00000021049.5 ENSMUST00000021049.6 ENSMUST00000021049.7 ENSMUST00000021049.8 NM_008950 O35051 P47210 P52915 P52916 P62196 PRS8_MOUSE Q3UL51 Q9CWN5 Sug1 uc007lyn.1 uc007lyn.2 uc007lyn.3 Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. PSMC5 belongs to the heterohexameric ring of AAA (ATPases associated with diverse cellular activities) proteins that unfolds ubiquitinated target proteins that are concurrently translocated into a proteolytic chamber and degraded into peptides. Component of the 19S proteasome regulatory particle complex. The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP) (By similarity). The regulatory particle is made of a lid composed of 9 subunits, a base containing 6 ATPases including PSMC5 and few additional components (By similarity). Component of a complex with USP49 and RUVBL1 (By similarity). Interacts with PRPF19 (PubMed:17349974). Interacts with TRIM5 (By similarity). Interacts with NDC80 (By similarity). Interacts with PAAF1 (By similarity). Interacts, in vitro, with the thyroid hormone receptor (in a thyroid hormone T3-dependent manner) and with retinoid X receptor (RXR) (PubMed:8598193). Interacts with ERCC6 (By similarity). P62196; P19447: ERCC3; Xeno; NbExp=6; IntAct=EBI-357713, EBI-1183307; Cytoplasm Nucleus Belongs to the AAA ATPase family. nucleotide binding proteasome complex receptor binding protein binding ATP binding nucleus holo TFIIH complex cytoplasm proteasome regulatory particle regulation of transcription from RNA polymerase II promoter transcription factor binding proteasome regulatory particle, base subcomplex inclusion body hydrolase activity ATPase activity TBP-class protein binding proteasome accessory complex protein catabolic process cytoplasmic vesicle thyrotropin-releasing hormone receptor binding nuclear proteasome complex cytosolic proteasome complex proteasome-mediated ubiquitin-dependent protein catabolic process negative regulation of transcription, DNA-templated positive regulation of RNA polymerase II transcriptional preinitiation complex assembly modulation of synaptic transmission positive regulation of inclusion body assembly postsynapse uc007lyn.1 uc007lyn.2 uc007lyn.3 
ENSMUST00000021050.14 Adap2 ENSMUST00000021050.14 ArfGAP with dual PH domains 2 (from RefSeq NM_172133.1) ADAP2_MOUSE Centa2 ENSMUST00000021050.1 ENSMUST00000021050.10 ENSMUST00000021050.11 ENSMUST00000021050.12 ENSMUST00000021050.13 ENSMUST00000021050.2 ENSMUST00000021050.3 ENSMUST00000021050.4 ENSMUST00000021050.5 ENSMUST00000021050.6 ENSMUST00000021050.7 ENSMUST00000021050.8 ENSMUST00000021050.9 NM_172133 Q8R2V5 uc007klk.1 uc007klk.2 uc007klk.3 GTPase-activating protein for the ADP ribosylation factor family (Potential). Binds phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). Possesses a stoichiometry of two binding sites for InsP4 with identical affinity (By similarity). Cytoplasm Cell membrane Note=Constitutively associated with the plasma membrane. Excluded from the nucleus (By similarity). GTPase activator activity 1-phosphatidylinositol binding phosphatidylinositol-4,5-bisphosphate binding phosphatidylinositol-3,4,5-trisphosphate binding cytoplasm mitochondrial envelope plasma membrane heart development membrane phosphatidylinositol-3,4-bisphosphate binding inositol 1,3,4,5 tetrakisphosphate binding positive regulation of GTPase activity metal ion binding inositol lipid-mediated signaling phosphatidylinositol bisphosphate binding uc007klk.1 uc007klk.2 uc007klk.3 
ENSMUST00000021052.16 Smarcd2 ENSMUST00000021052.16 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2, transcript variant 1 (from RefSeq NM_001130187.1) B1ARI7 B1ARJ6 Baf60b ENSMUST00000021052.1 ENSMUST00000021052.10 ENSMUST00000021052.11 ENSMUST00000021052.12 ENSMUST00000021052.13 ENSMUST00000021052.14 ENSMUST00000021052.15 ENSMUST00000021052.2 ENSMUST00000021052.3 ENSMUST00000021052.4 ENSMUST00000021052.5 ENSMUST00000021052.6 ENSMUST00000021052.7 ENSMUST00000021052.8 ENSMUST00000021052.9 NM_001130187 Q99JR8 SMRD2_MOUSE uc007lyp.1 uc007lyp.2 uc007lyp.3 uc007lyp.4 Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Critical regulator of myeloid differentiation, controlling granulocytopoiesis and the expression of genes involved in neutrophil granule formation. Component of the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF), SWI/SNF-B (PBAF) and related complexes. The canonical complex contains a catalytic subunit (either SMARCA4/BRG1/BAF190A or SMARCA2/BRM/BAF190B), and at least SMARCE1, ACTL6A/BAF53, SMARCC1/BAF155, SMARCC2/BAF170, and SMARCB1/SNF5/BAF47. Other subunits specific to each of the complexes may also be present permitting several possible combinations developmentally and tissue specific. Component of the BAF complex, which includes at least actin (ACTB), ARID1A/BAF250A, ARID1B/BAF250B, SMARCA2/BRM, SMARCA4/BRG1, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155, SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In muscle cells, the BAF complex also contains DPF3. Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin (ACTB). Interacts with UNKL. Interacts with CEBPE. Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99JR8-1; Sequence=Displayed; Name=2; IsoId=Q99JR8-2; Sequence=VSP_040533; Ubiquitinated through a signaling process involving RAC1 and the RING finger protein UNKL. Belongs to the SMARCD family. Sequence=AAH05732.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; nucleus nucleoplasm chromatin organization nucleosome disassembly chromatin remodeling SWI/SNF complex ATP-dependent chromatin remodeling uc007lyp.1 uc007lyp.2 uc007lyp.3 uc007lyp.4 
ENSMUST00000021056.8 Scn4a ENSMUST00000021056.8 sodium channel, voltage-gated, type IV, alpha, transcript variant 1 (from RefSeq NM_133199.3) ENSMUST00000021056.1 ENSMUST00000021056.2 ENSMUST00000021056.3 ENSMUST00000021056.4 ENSMUST00000021056.5 ENSMUST00000021056.6 ENSMUST00000021056.7 G3X8T7 G3X8T7_MOUSE NM_133199 Scn4a uc007lyu.1 uc007lyu.2 uc007lyu.3 Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Cell membrane ulti-pass membrane protein Membrane ; Multi-pass membrane protein Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.4/SCN4A subfamily. Lacks conserved residue(s) required for the propagation of feature annotation. voltage-gated sodium channel complex ion channel activity voltage-gated ion channel activity voltage-gated sodium channel activity sodium channel activity plasma membrane integral component of plasma membrane ion transport sodium ion transport membrane integral component of membrane regulation of ion transmembrane transport sodium ion transmembrane transport transmembrane transport regulation of skeletal muscle contraction by action potential uc007lyu.1 uc007lyu.2 uc007lyu.3 
ENSMUST00000021060.6 Polg2 ENSMUST00000021060.6 polymerase (DNA directed), gamma 2, accessory subunit, transcript variant 2 (from RefSeq NR_027785.2) B1ARB5 DPOG2_MOUSE ENSMUST00000021060.1 ENSMUST00000021060.2 ENSMUST00000021060.3 ENSMUST00000021060.4 ENSMUST00000021060.5 Mtpolb NR_027785 O35614 Q9QZM2 uc007lzm.1 uc007lzm.2 uc007lzm.3 uc007lzm.4 Mitochondrial polymerase processivity subunit. It regulates the polymerase and exonuclease activities promoting processive DNA synthesis. Binds to ss-DNA. Heterotrimer composed of a catalytic subunit and a homodimer of accessory subunits. Q9QZM2; Q9QZM2: Polg2; NbExp=2; IntAct=EBI-853043, EBI-853043; Mitochondrion. in utero embryonic development DNA binding DNA-directed DNA polymerase activity cytoplasm mitochondrion DNA replication mitochondrial DNA replication DNA repair transferase activity nucleotidyltransferase activity respiratory electron transport chain mitochondrial DNA metabolic process mitochondrial nucleoid identical protein binding mitochondrion morphogenesis DNA biosynthetic process uc007lzm.1 uc007lzm.2 uc007lzm.3 uc007lzm.4 
ENSMUST00000021062.12 Ddx5 ENSMUST00000021062.12 DEAD box helicase 5 (from RefSeq NM_007840.3) Ddx5 ENSMUST00000021062.1 ENSMUST00000021062.10 ENSMUST00000021062.11 ENSMUST00000021062.2 ENSMUST00000021062.3 ENSMUST00000021062.4 ENSMUST00000021062.5 ENSMUST00000021062.6 ENSMUST00000021062.7 ENSMUST00000021062.8 ENSMUST00000021062.9 NM_007840 Q6P5F8 Q8BTS0 Q8BTS0_MOUSE uc007lzq.1 uc007lzq.2 uc007lzq.3 Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Evidence=; Belongs to the DEAD box helicase family. negative regulation of transcription from RNA polymerase II promoter nucleotide binding alternative mRNA splicing, via spliceosome regulation of alternative mRNA splicing, via spliceosome nuclear-transcribed mRNA catabolic process epithelial to mesenchymal transition nucleic acid binding RNA helicase activity mRNA 3'-UTR binding helicase activity calmodulin binding ATP binding nucleus nucleolus regulation of transcription from RNA polymerase II promoter mRNA transcription hydrolase activity enzyme binding BMP signaling pathway intracellular estrogen receptor signaling pathway androgen receptor signaling pathway MH2 domain binding pre-mRNA binding ribonucleoprotein complex binding positive regulation of DNA damage response, signal transduction by p53 class mediator regulation of viral genome replication SMAD binding calcium-dependent protein binding androgen receptor binding regulation of androgen receptor signaling pathway R-SMAD binding primary miRNA binding catalytic step 2 spliceosome intrinsic apoptotic signaling pathway by p53 class mediator positive regulation of production of miRNAs involved in gene silencing by miRNA ribonucleoprotein complex uc007lzq.1 uc007lzq.2 uc007lzq.3 
ENSMUST00000021063.13 Psmd12 ENSMUST00000021063.13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 (from RefSeq NM_025894.2) ENSMUST00000021063.1 ENSMUST00000021063.10 ENSMUST00000021063.11 ENSMUST00000021063.12 ENSMUST00000021063.2 ENSMUST00000021063.3 ENSMUST00000021063.4 ENSMUST00000021063.5 ENSMUST00000021063.6 ENSMUST00000021063.7 ENSMUST00000021063.8 ENSMUST00000021063.9 NM_025894 PSD12_MOUSE Q9CQT4 Q9CYB3 Q9D8W5 uc007mar.1 uc007mar.2 uc007mar.3 Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Component of the 19S proteasome regulatory particle complex (PubMed:16857966). The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP) (By similarity). The regulatory particle is made of a lid composed of 9 subunits including PSMD12, a base containing 6 ATPases and few additional components (By similarity). Interacts with ERCC6 (By similarity). Belongs to the proteasome subunit p55 family. proteasome complex molecular_function cytoplasm proteasome regulatory particle proteasome regulatory particle, lid subcomplex proteasome accessory complex nuclear proteasome complex proteasome-mediated ubiquitin-dependent protein catabolic process uc007mar.1 uc007mar.2 uc007mar.3 
ENSMUST00000021065.6 Cacng1 ENSMUST00000021065.6 calcium channel, voltage-dependent, gamma subunit 1 (from RefSeq NM_007582.2) Cacng1 ENSMUST00000021065.1 ENSMUST00000021065.2 ENSMUST00000021065.3 ENSMUST00000021065.4 ENSMUST00000021065.5 NM_007582 Q4KL26 Q4KL26_MOUSE uc007may.1 uc007may.2 uc007may.3 Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Regulates channel inactivation kinetics. Component of a calcium channel complex consisting of a pore- forming alpha subunit (CACNA1S) and the ancillary subunits CACNB1 or CACNB2, CACNG1 and CACNA2D1. The channel complex contains alpha, beta, gamma and delta subunits in a 1:1:1:1 ratio, i.e. it contains either CACNB1 or CACNB2. Cell membrane, sarcolemma ; Multi-pass membrane protein Membrane ; Multi-pass membrane protein Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. voltage-gated ion channel activity voltage-gated calcium channel activity calcium channel activity voltage-gated calcium channel complex ion transport calcium ion transport membrane integral component of membrane regulation of ion transmembrane transport calcium ion transmembrane transport uc007may.1 uc007may.2 uc007may.3 
ENSMUST00000021066.4 Cacng4 ENSMUST00000021066.4 calcium channel, voltage-dependent, gamma subunit 4 (from RefSeq NM_019431.4) CCG4_MOUSE ENSMUST00000021066.1 ENSMUST00000021066.2 ENSMUST00000021066.3 NM_019431 Q9JJV4 uc007maz.1 uc007maz.2 uc007maz.3 Regulates the activity of L-type calcium channels that contain CACNA1C as pore-forming subunit (By similarity). Regulates the trafficking and gating properties of AMPA-selective glutamate receptors (AMPARs), including GRIA1 and GRIA4. Promotes their targeting to the cell membrane and synapses and modulates their gating properties by slowing their rates of activation, deactivation and desensitization and by mediating their resensitization (PubMed:17880894). Interacts with CACNA1C. Identified in a complex with the L- type calcium channel subunits CACNA1C, CACNA2D1 and either CACNB1 or CACNB2 (By similarity). Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Interacts with GRIA1 (By similarity). Cell membrane ; Multi-pass membrane protein Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. voltage-gated ion channel activity voltage-gated calcium channel activity calcium channel regulator activity calcium channel activity plasma membrane voltage-gated calcium channel complex ion transport calcium ion transport cell surface postsynaptic density membrane integral component of membrane transmission of nerve impulse AMPA glutamate receptor complex regulation of ion transmembrane transport ionotropic glutamate receptor binding somatodendritic compartment response to cocaine cell body calcium ion transmembrane transport postsynaptic density membrane neurotransmitter receptor transport, postsynaptic endosome to lysosome regulation of postsynaptic neurotransmitter receptor activity postsynaptic neurotransmitter receptor diffusion trapping glutamatergic synapse integral component of postsynaptic density membrane neurotransmitter receptor internalization L-type voltage-gated calcium channel complex regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity uc007maz.1 uc007maz.2 uc007maz.3 
ENSMUST00000021076.6 Rab37 ENSMUST00000021076.6 RAB37, member RAS oncogene family, transcript variant 1 (from RefSeq NM_021411.4) ENSMUST00000021076.1 ENSMUST00000021076.2 ENSMUST00000021076.3 ENSMUST00000021076.4 ENSMUST00000021076.5 NM_021411 Q544E8 Q544E8_MOUSE Rab37 uc007mgo.1 uc007mgo.2 uc007mgo.3 uc007mgo.4 Belongs to the small GTPase superfamily. Rab family. GTPase activity GTP binding endoplasmic reticulum-Golgi intermediate compartment uc007mgo.1 uc007mgo.2 uc007mgo.3 uc007mgo.4 
ENSMUST00000021077.4 Nherf1 ENSMUST00000021077.4 NHERF family PDZ scaffold protein 1 (from RefSeq NM_012030.2) ENSMUST00000021077.1 ENSMUST00000021077.2 ENSMUST00000021077.3 NM_012030 Nherf1 Q3TG37 Q3TG37_MOUSE Slc9a3r1 uc007mgp.1 uc007mgp.2 uc007mgp.3 Scaffold protein that connects plasma membrane proteins with members of the ezrin/moesin/radixin family and thereby helps to link them to the actin cytoskeleton and to regulate their surface expression. Cell membrane Cell projection, filopodium Cell projection, microvillus Cell projection, ruffle Endomembrane system ; Peripheral membrane protein receptor binding cytoplasm plasma membrane microvillus nuclear migration beta-catenin binding negative regulation of cell proliferation regulation of cell shape regulation of cell size endomembrane system membrane apical plasma membrane chloride channel regulator activity phosphatase binding protein domain specific binding gland morphogenesis microvillus assembly PDZ domain binding microvillus membrane beta-2 adrenergic receptor binding positive regulation of ion transmembrane transport protein self-association macromolecular complex binding membrane raft myosin II binding establishment of epithelial cell apical/basal polarity negative regulation of mitotic cell cycle protein N-terminus binding perinuclear region of cytoplasm establishment of Golgi localization negative regulation of protein kinase B signaling binding, bridging negative regulation of ERK1 and ERK2 cascade growth factor receptor binding cell periphery protein localization to plasma membrane negative regulation of canonical Wnt signaling pathway renal phosphate ion absorption positive regulation of intrinsic apoptotic signaling pathway uc007mgp.1 uc007mgp.2 uc007mgp.3 
ENSMUST00000021078.3 Fdxr ENSMUST00000021078.3 ferredoxin reductase (from RefSeq NM_007997.1) ADRO_MOUSE ENSMUST00000021078.1 ENSMUST00000021078.2 NM_007997 Q61578 uc007mgy.1 uc007mgy.2 uc007mgy.3 Serves as the first electron transfer protein in all the mitochondrial P450 systems including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C- 27 hydroxylation in the liver. Reaction=H(+) + NADP(+) + 2 reduced [adrenodoxin] = NADPH + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:42312, Rhea:RHEA-COMP:9998, Rhea:RHEA- COMP:9999, ChEBI:CHEBI:15378, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.18.1.6; Evidence=; Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Steroid metabolism; cholesterol metabolism. Monomer. Interacts directly with FDX1. Mitochondrion inner membrane ; Peripheral membrane protein Expressed in the adrenal, testis and ovary and to a lesser extent in the liver and kidney. Belongs to the ferredoxin--NADP reductase type 1 family. mitochondrion mitochondrial inner membrane lipid metabolic process ubiquinone biosynthetic process steroid metabolic process cholesterol metabolic process NADPH-adrenodoxin reductase activity membrane oxidoreductase activity oxidation-reduction process NADPH binding NADPH oxidation uc007mgy.1 uc007mgy.2 uc007mgy.3 
ENSMUST00000021082.7 Nt5c ENSMUST00000021082.7 5',3'-nucleotidase, cytosolic, transcript variant 5 (from RefSeq NR_184550.1) Dnt1 ENSMUST00000021082.1 ENSMUST00000021082.2 ENSMUST00000021082.3 ENSMUST00000021082.4 ENSMUST00000021082.5 ENSMUST00000021082.6 NR_184550 NT5C_MOUSE Q9JM14 uc007mhu.1 uc007mhu.2 uc007mhu.3 uc007mhu.4 Dephosphorylates the 5' and 2'(3')-phosphates of deoxyribonucleotides, with a preference for dUMP and dTMP, intermediate activity towards dGMP, and low activity towards dCMP and dAMP. Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Kinetic parameters: KM=0.42 mM for dUMP-5' ; KM=1.25 mM for dTMP-5' ; KM=1.2 mM for dGMP-5' ; KM=1.0 mM for dAMP-5' ; KM=3.6 mM for dCMP-5' ; KM=0.4 mM for UMP-3 ; Homodimer. Cytoplasm Belongs to the 5'(3')-deoxyribonucleotidase family. nucleotide binding nucleus cytoplasm mitochondrion cytosol nucleotidase activity 5'-nucleotidase activity nucleotide metabolic process pyrimidine deoxyribonucleotide catabolic process deoxyribonucleotide catabolic process dephosphorylation hydrolase activity phosphatase activity pyrimidine nucleotide binding metal ion binding uc007mhu.1 uc007mhu.2 uc007mhu.3 uc007mhu.4 
ENSMUST00000021083.7 Jpt1 ENSMUST00000021083.7 Jupiter microtubule associated homolog 1 (from RefSeq NM_008258.2) ENSMUST00000021083.1 ENSMUST00000021083.2 ENSMUST00000021083.3 ENSMUST00000021083.4 ENSMUST00000021083.5 ENSMUST00000021083.6 Hn1 JUPI1_MOUSE Jpt1 NM_008258 P97825 uc007mhv.1 uc007mhv.2 uc007mhv.3 Modulates negatively AKT-mediated GSK3B signaling. Induces CTNNB1 'Ser-33' phosphorylation and degradation through the suppression of the inhibitory 'Ser-9' phosphorylation of GSK3B, which represses the function of the APC:CTNNB1:GSK3B complex and the interaction with CDH1/E-cadherin in adherent junctions (By similarity). Plays a role in the regulation of cell cycle and cell adhesion (PubMed:25450365). Has an inhibitory role on AR-signaling pathway through the induction of receptor proteasomal degradation (By similarity). Interacts with the complex composed, at least, of APC, CTNNB1 and GSK3B; the interaction takes place with the inactive form of GSK3B (phosphorylated at 'Ser-9'). Nucleus Cytoplasm Expressed in yolk sac, fetal brain, brain, spleen and bone marrow. Negatively regulated by the microRNA miR-132. Belongs to the JUPITER family. molecular_function nucleus nucleolus cytoplasm biological_process nuclear membrane uc007mhv.1 uc007mhv.2 uc007mhv.3 
ENSMUST00000021085.11 Nup85 ENSMUST00000021085.11 nucleoporin 85 (from RefSeq NM_001002929.4) A2A9W9 A2A9X0 ENSMUST00000021085.1 ENSMUST00000021085.10 ENSMUST00000021085.2 ENSMUST00000021085.3 ENSMUST00000021085.4 ENSMUST00000021085.5 ENSMUST00000021085.6 ENSMUST00000021085.7 ENSMUST00000021085.8 ENSMUST00000021085.9 NM_001002929 NUP85_MOUSE Pcnt1 Q8R480 Q9CYI9 uc007mhx.1 uc007mhx.2 uc007mhx.3 uc007mhx.4 Essential component of the nuclear pore complex (NPC) that seems to be required for NPC assembly and maintenance. As part of the NPC Nup107-160 subcomplex plays a role in RNA export and in tethering NUP96/Nup98 and NUP153 to the nucleus. The Nup107-160 complex seems to be required for spindle assembly during mitosis. NUP85 is required for membrane clustering of CCL2-activated CCR2. Seems to be involved in CCR2-mediated chemotaxis of monocytes and may link activated CCR2 to the phosphatidyl-inositol 3-kinase-Rac-lammellipodium protrusion cascade. Involved in nephrogenesis. Component of the nuclear pore complex (NPC). Component of the NPC Nup107-160 subcomplex, consisting of at least NUP107, NUP98/Nup96, NUP160, NUP133, NUP85, NUP37, NUP43 and SEC13. Interacts with NUP160, NUP133 and SEC13 (PubMed:12718872). Interacts with NUP37, NUP107 and NUP43. Interacts with CCR2. Nucleus, nuclear pore complex Chromosome, centromere, kinetochore Cytoplasm, cytoskeleton, spindle Cytoplasm Nucleus membrane Note=During mitosis, localizes to the kinetochores and spindle poles. Upon CCl2 stimulation translocates from the cytoplasm to the membrane and colocalizes with CCR2 at the front of migrating cells. Belongs to the nucleoporin Nup85 family. Sequence=CAM23011.1; Type=Erroneous gene model prediction; Evidence=; Sequence=CAM23012.1; Type=Erroneous gene model prediction; Evidence=; chromosome, centromeric region kinetochore condensed chromosome kinetochore nucleus nuclear pore chromosome cytoplasm spindle cytosol cytoskeleton plasma membrane mRNA export from nucleus protein import into nucleus chemotaxis protein transport membrane structural constituent of nuclear pore cytokine-mediated signaling pathway lamellipodium assembly nuclear pore outer ring CCR2 chemokine receptor binding nuclear membrane positive regulation of transcription, DNA-templated macrophage chemotaxis mRNA transport nephron development uc007mhx.1 uc007mhx.2 uc007mhx.3 uc007mhx.4 
ENSMUST00000021087.14 Mif4gd ENSMUST00000021087.14 MIF4G domain containing, transcript variant 2 (from RefSeq NM_001243584.1) ENSMUST00000021087.1 ENSMUST00000021087.10 ENSMUST00000021087.11 ENSMUST00000021087.12 ENSMUST00000021087.13 ENSMUST00000021087.2 ENSMUST00000021087.3 ENSMUST00000021087.4 ENSMUST00000021087.5 ENSMUST00000021087.6 ENSMUST00000021087.7 ENSMUST00000021087.8 ENSMUST00000021087.9 MI4GD_MOUSE NM_001243584 Q05CE9 Q3UBZ5 Q7TMH3 Q8R333 uc007mid.1 uc007mid.2 uc007mid.3 uc007mid.4 uc007mid.5 Functions in replication-dependent translation of histone mRNAs which differ from other eukaryotic mRNAs in that they do not end with a poly-A tail but a stem-loop. May participate in circularizing those mRNAs specifically enhancing their translation (By similarity). Interacts with EIF4G1, EIF4G2 and SLBP; probably tethered by SLBP to the 3'-end of mRNAs ending with the histone stem-loop, it also interacts with EIF4G1 which is bound to their 5'-end. Cytoplasm Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q3UBZ5-1; Sequence=Displayed; Name=2; IsoId=Q3UBZ5-2; Sequence=VSP_033878, VSP_033879; Belongs to the MIF4GD family. RNA binding nucleus nucleolus cytoplasm cytosol regulation of translation regulation of translational initiation protein C-terminus binding translation activator activity identical protein binding positive regulation of translation uc007mid.1 uc007mid.2 uc007mid.3 uc007mid.4 uc007mid.5 
ENSMUST00000021090.14 Grb2 ENSMUST00000021090.14 growth factor receptor bound protein 2, transcript variant 1 (from RefSeq NM_008163.4) ENSMUST00000021090.1 ENSMUST00000021090.10 ENSMUST00000021090.11 ENSMUST00000021090.12 ENSMUST00000021090.13 ENSMUST00000021090.2 ENSMUST00000021090.3 ENSMUST00000021090.4 ENSMUST00000021090.5 ENSMUST00000021090.6 ENSMUST00000021090.7 ENSMUST00000021090.8 ENSMUST00000021090.9 GRB2_MOUSE NM_008163 Q60631 Q61240 uc007mik.1 uc007mik.2 uc007mik.3 The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Three alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2015]. Adapter protein that provides a critical link between cell surface growth factor receptors and the Ras signaling pathway. [Isoform 2]: Does not bind to phosphorylated epidermal growth factor receptor (EGFR) but inhibits EGF-induced transactivation of a RAS-responsive element. Acts as a dominant negative protein over GRB2 and by suppressing proliferative signals, may trigger active programmed cell death. Associates (via SH2 domain) with activated EGF and PDGF receptors (tyrosine phosphorylated) (By similarity). Interacts with PDGFRA (tyrosine phosphorylated); the interaction may be indirect (PubMed:8943348). Interacts with IRS4 (when Tyr-phosphorylated) (PubMed:11113178). Also associates to other cellular Tyr-phosphorylated proteins such as SIT1, IRS1, SHC and LNK; probably via the concerted action of both its SH2 and SH3 domains (By similarity). It also seems to interact with RAS in the signaling pathway leading to DNA synthesis. Interacts with SOS1 (By similarity). Forms a complex with MUC1 and SOS1, through interaction of the SH3 domains with SOS1 and the SH2 domain with phosphorylated MUC1 (By similarity). Interacts with phosphorylated MET (By similarity). Interacts with phosphorylated TOM1L1 (PubMed:11711534). Interacts with the phosphorylated C-terminus of SH2B2 (By similarity). Interacts with phosphorylated SIT1, LAX1, LAT, LAT2 and LIME1 upon TCR and/or BCR activation (By similarity) (PubMed:16249387, PubMed:14610044, PubMed:15477350, PubMed:15477348, PubMed:22561606). Interacts with NISCH, PTPNS1 and REPS2 (By similarity). Interacts with syntrophin SNTA1 (PubMed:11551227). Interacts (via SH3 domains) with REPS1 (PubMed:9395447). Interacts (via SH3 domains) with PIK3C2B (By similarity). Interacts with CBL and CBLB (By similarity). Interacts with AJUBA and CLNK (PubMed:10330178, PubMed:11463797). Interacts (via SH2 domain) with TEK/TIE2 (tyrosine phosphorylated) (PubMed:10521483). Interacts with SHB, INPP5D/SHIP1, SKAP1 and SKAP2 (By similarity). Interacts with PTPN11 (PubMed:8943348). Interacts with PRNP (PubMed:11571277). Interacts with RALGPS1 (By similarity). Interacts also with HCST (PubMed:16582911). Interacts with KDR (PubMed:16966330). Interacts with FLT1 (tyrosine- phosphorylated) (PubMed:9722576). Interacts with GAPT and PTPRE (By similarity). Interacts (via SH2 domain) with KIF26A (By similarity). Interacts (via SH3 2) with GAB2 (PubMed:10068651). Interacts with ADAM15 (By similarity). Interacts with THEMIS2 (PubMed:20644716). Interacts (via SH2 domain) with AXL (phosphorylated) (By similarity). Interacts (via SH2 domain) with KIT (phosphorylated) (PubMed:10377264). Interacts with PTPRJ and BCR (By similarity). Interacts with PTPN23 (By similarity). Interacts with FLT4 (tyrosine phosphorylated) (By similarity). Interacts with EPHB1 and SHC1; activates the MAPK/ERK cascade to regulate cell migration (PubMed:12925710). Part of a complex including TNK2, GRB2 and one receptor tyrosine kinase (RTK) such as AXL and PDGFRL, in which GRB2 promotes RTK recruitment by TNK2 (By similarity). Interacts (via SH2 domain) with CSF1R (tyrosine phosphorylated) (PubMed:9312046). Interacts with ERBB4 (By similarity). Interacts with NTRK1 (phosphorylated upon ligand-binding) (By similarity). Interacts with PTK2/FAK1 (tyrosine phosphorylated) (PubMed:7997267). Interacts with PTK2B/PYK2 (tyrosine phosphorylated) (By similarity). Interacts (via SH2-domain) with SCIMP; this interaction is dependent on phosphorylation of SCIMP 'Tyr-58' (PubMed:21930792, PubMed:28098138, PubMed:28290451). Interacts (via SH3 domains) with GAREM1 (via proline-rich domain and tyrosine phosphorylated); the interaction occurs upon EGF stimulation (By similarity). Interacts with DAB2 (PubMed:9569023). Interacts with TESPA1 (By similarity). Interacts with THEMIS (PubMed:19597498, PubMed:19597497, PubMed:19805304, PubMed:22561606). Interacts with PLCG1, LAT and THEMIS upon TCR activation in thymocytes; the association is weaker in the absence of TESPA1 (PubMed:22561606). Interacts with CD28 (By similarity). Interacts with RAB13; may recruit RAB13 to the leading edge of migrating endothelial cells where it can activate RHOA (PubMed:21543326). Interacts with ASAP3 (phosphorylated form) (By similarity). Interacts (via SH2 domain) with PTPRH (phosphorylated form) (PubMed:20398064). Interacts with PTPRO (phosphorylated form) (PubMed:20398064). Interacts with PTPRB (phosphorylated form) (PubMed:20398064). Interacts (via SH3 domain 2) with PRR14 (via proline-rich region) (By similarity). Interacts with DENND2B (By similarity). Interacts with SPRY2 (By similarity). Interacts with LRRC8A (PubMed:32930093). Interacts with PEAK1 (By similarity). Q60631; O54737: Blnk; NbExp=4; IntAct=EBI-1688, EBI-641814; Q60631; P35991: Btk; NbExp=4; IntAct=EBI-1688, EBI-625119; Q60631; B9EKI5: Cblb; NbExp=3; IntAct=EBI-1688, EBI-682463; Q60631; P35329: Cd22; NbExp=4; IntAct=EBI-1688, EBI-300059; Q60631; P98078: Dab2; NbExp=4; IntAct=EBI-1688, EBI-1391846; Q60631; Q99JZ7: Errfi1; NbExp=3; IntAct=EBI-1688, EBI-643375; Q60631; Q8C180: Frs2; NbExp=5; IntAct=EBI-1688, EBI-6880000; Q60631; Q9QYY0: Gab1; NbExp=8; IntAct=EBI-1688, EBI-644784; Q60631; Q60749: Khdrbs1; NbExp=2; IntAct=EBI-1688, EBI-519077; Q60631; Q52KG5: Kif26a; NbExp=2; IntAct=EBI-1688, EBI-2480646; Q60631; O54957: Lat; NbExp=5; IntAct=EBI-1688, EBI-6390034; Q60631; Q62077: Plcg1; NbExp=2; IntAct=EBI-1688, EBI-300133; Q60631; P04925: Prnp; NbExp=7; IntAct=EBI-1688, EBI-768613; Q60631; P35235: Ptpn11; NbExp=3; IntAct=EBI-1688, EBI-397236; Q60631; P18052: Ptpra; NbExp=4; IntAct=EBI-1688, EBI-6597520; Q60631; Q91ZZ2: Rapgef1; NbExp=3; IntAct=EBI-1688, EBI-644719; Q60631; P98083: Shc1; NbExp=8; IntAct=EBI-1688, EBI-300201; Q60631; Q61234: Snta1; NbExp=3; IntAct=EBI-1688, EBI-295952; Q60631; Q62245: Sos1; NbExp=7; IntAct=EBI-1688, EBI-1693; Q60631; Q02384: Sos2; NbExp=5; IntAct=EBI-1688, EBI-395573; Q60631; Q02858: Tek; NbExp=3; IntAct=EBI-1688, EBI-7099626; Q60631; Q99PM9: Uck2; NbExp=3; IntAct=EBI-1688, EBI-644712; Q60631-1; Q8BGW0-1: Themis; NbExp=3; IntAct=EBI-15532571, EBI-15806957; Nucleus Cytoplasm Endosome Golgi apparatus Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q60631-1; Sequence=Displayed; Name=2; Synonyms=GRB3-3; IsoId=Q60631-2; Sequence=VSP_001841; Expressed in macrophages. The SH3 domains mediate interaction with RALGPS1 and SHB. Belongs to the GRB2/sem-5/DRK family. Name=Wikipedia; Note=Grb2 entry; URL="https://en.wikipedia.org/wiki/Grb2"; phosphotyrosine binding SH3/SH2 adaptor activity epidermal growth factor receptor binding neurotrophin TRKA receptor binding protein binding nucleus nucleoplasm nucleolus cytoplasm endosome Golgi apparatus cytosol plasma membrane cell-cell junction Ras protein signal transduction aging COP9 signalosome insulin receptor signaling pathway positive regulation of signal transduction vesicle membrane membrane SH3 domain binding enzyme binding protein kinase binding protein phosphatase binding protein domain specific binding cell differentiation positive regulation of actin filament polymerization receptor internalization macromolecular complex signal transduction in response to DNA damage identical protein binding regulation of MAPK cascade insulin receptor substrate binding ephrin receptor binding anatomical structure formation involved in morphogenesis phosphoprotein binding protein heterooligomerization branching involved in labyrinthine layer morphogenesis Grb2-EGFR complex cellular response to ionizing radiation positive regulation of reactive oxygen species metabolic process uc007mik.1 uc007mik.2 uc007mik.3 
ENSMUST00000021091.15 Pafah1b1 ENSMUST00000021091.15 platelet-activating factor acetylhydrolase, isoform 1b, subunit 1, transcript variant 1 (from RefSeq NM_013625.4) ENSMUST00000021091.1 ENSMUST00000021091.10 ENSMUST00000021091.11 ENSMUST00000021091.12 ENSMUST00000021091.13 ENSMUST00000021091.14 ENSMUST00000021091.2 ENSMUST00000021091.3 ENSMUST00000021091.4 ENSMUST00000021091.5 ENSMUST00000021091.6 ENSMUST00000021091.7 ENSMUST00000021091.8 ENSMUST00000021091.9 LIS1 NM_013625 PAFAH1B1 Pafah1b1 Q5SW18 Q5SW18_MOUSE uc011xyy.1 uc011xyy.2 uc011xyy.3 Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. Also required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing. Non-catalytic subunit of an acetylhydrolase complex which inactivates platelet-activating factor (PAF) by removing the acetyl group at the SN-2 position. Can self-associate. Interacts with DCX, dynein, dynactin, IQGAP1, KATNB1, NDE1, NDEL1, NUDC and RSN. Interacts with DISC1, and this interaction is enhanced by NDEL1. Interacts with DAB1 when DAB1 is phosphorylated in response to RELN/reelin signaling. Component of cytosolic PAF-AH IB, which is composed of PAFAH1B1 (alpha), PAFAH1B2 (beta) and PAFAH1B3 (gamma) subunits. Trimer formation is not essential for the catalytic activity of the enzyme which is contributed solely by the PAFAH1B2 (beta) and PAFAH1B3 (gamma) subunits. Cytoplasm, cytoskeleton toplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle Nucleus membrane Note=Localizes to the plus end of microtubules and to the centrosome. May localize to the nuclear membrane. Redistributes to axons during neuronal development. Also localizes to the microtubules of the manchette in elongating spermatids and to the meiotic spindle in spermatocytes. Dimerization mediated by the LisH domain may be required to activate dynein. Belongs to the WD repeat LIS1/nudF family. establishment of mitotic spindle orientation astral microtubule kinetochore neuron migration nucleus nuclear envelope cytoplasm centrosome microtubule organizing center spindle cytosol cytoskeleton kinesin complex microtubule microtubule associated complex cell cortex lipid metabolic process microtubule-based process cell cycle nuclear migration multicellular organism development nervous system development brain development adult locomotory behavior negative regulation of neuron projection development membrane lipid catabolic process stem cell division corpus callosum morphogenesis cerebral cortex neuron differentiation cerebral cortex development cell differentiation axon growth cone microtubule organizing center organization nuclear membrane vesicle neuron projection neuronal cell body macromolecular complex binding dynein intermediate chain binding positive regulation of axon extension positive regulation of mitotic cell cycle brain morphogenesis neuromuscular process controlling balance microtubule sliding cell division establishment of centrosome localization dynein complex binding central region of growth cone uc011xyy.1 uc011xyy.2 uc011xyy.3 
ENSMUST00000021097.10 Recql5 ENSMUST00000021097.10 RecQ protein-like 5 (from RefSeq NM_130454.2) ENSMUST00000021097.1 ENSMUST00000021097.2 ENSMUST00000021097.3 ENSMUST00000021097.4 ENSMUST00000021097.5 ENSMUST00000021097.6 ENSMUST00000021097.7 ENSMUST00000021097.8 ENSMUST00000021097.9 NM_130454 Q8BQD7 Q8C7T6 Q8VID3 Q8VID5 RECQ5_MOUSE uc007mix.1 uc007mix.2 uc007mix.3 uc007mix.4 DNA helicase that plays an important role in DNA replication, transcription and repair. Binds to the RNA polymerase II subunit POLR2A during transcription elongation and suppresses transcription-associated genomic instability. Associates also with POLR1A and enforces the stability of ribosomal DNA arrays. Plays an important role in mitotic chromosome separation after cross-over events and cell cycle progress. Mechanistically, removes RAD51 filaments protecting stalled replication forks at common fragile sites and stimulates MUS81-EME1 endonuclease leading to mitotic DNA synthesis. Required for efficient DNA repair, including repair of inter-strand cross-links. Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination. Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12; Evidence=; Monomer. Interacts with TOP2A, TOP3A and TOP3B. Interacts with RNA polymerase II subunit POLR2A. Identified in a complex with the RNA polymerase II core bound to DNA. Interacts with RAD51 (By similarity). Interacts with WRN; this interaction stimulates WRN helicase activity on DNA fork duplexes (By similarity). Interacts with MUS1; this interaction promotes MUS81-dependent mitotic DNA synthesis (By similarity). Nucleus, nucleoplasm Note=Recruited to sites of DNA damage, such as single-strand breaks and inter-strand cross-links, and at stalled replication forks. Phosphorylated by CDK1 at Ser-728; this phosphorylation is required for RECQL5-mediated disruption of RAD51 filaments on stalled replication forks. Belongs to the helicase family. RecQ subfamily. nucleotide binding mitotic cell cycle double-strand break repair via homologous recombination RNA polymerase II core binding nucleic acid binding DNA helicase activity helicase activity ATP binding nucleus nucleoplasm chromosome cytoplasm cytosol DNA replication DNA unwinding involved in DNA replication DNA repair DNA recombination cellular response to DNA damage stimulus cell cycle four-way junction helicase activity DNA-directed RNA polymerase II, holoenzyme hydrolase activity DNA duplex unwinding negative regulation of transcription elongation from RNA polymerase II promoter cellular response to drug identical protein binding cell division chromosome separation cellular response to camptothecin replication-born double-strand break repair via sister chromatid exchange negative regulation of double-strand break repair via homologous recombination uc007mix.1 uc007mix.2 uc007mix.3 uc007mix.4 
ENSMUST00000021114.5 Galk1 ENSMUST00000021114.5 galactokinase 1 (from RefSeq NM_016905.2) ENSMUST00000021114.1 ENSMUST00000021114.2 ENSMUST00000021114.3 ENSMUST00000021114.4 GALK1_MOUSE Galk Glk NM_016905 Q9JIA6 Q9R0N0 uc007mjn.1 uc007mjn.2 uc007mjn.3 Catalyzes the transfer of a phosphate from ATP to alpha-D- galactose and participates in the first committed step in the catabolism of galactose. Reaction=alpha-D-galactose + ATP = ADP + alpha-D-galactose 1-phosphate + H(+); Xref=Rhea:RHEA:13553, ChEBI:CHEBI:15378, ChEBI:CHEBI:28061, ChEBI:CHEBI:30616, ChEBI:CHEBI:58336, ChEBI:CHEBI:456216; EC=2.7.1.6; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:13554; Evidence=; Carbohydrate metabolism; galactose metabolism. Homodimer. Belongs to the GHMP kinase family. GalK subfamily. nucleotide binding galactokinase activity protein binding ATP binding galactose binding cytoplasm cytosol carbohydrate metabolic process galactose metabolic process kinase activity phosphorylation transferase activity phosphotransferase activity, alcohol group as acceptor galactitol metabolic process galactose catabolic process via UDP-galactose carbohydrate phosphorylation glycolytic process from galactose uc007mjn.1 uc007mjn.2 uc007mjn.3 
ENSMUST00000021116.12 Unk ENSMUST00000021116.12 unkempt family zinc finger, transcript variant 1 (from RefSeq NM_172569.4) A2A853 ENSMUST00000021116.1 ENSMUST00000021116.10 ENSMUST00000021116.11 ENSMUST00000021116.2 ENSMUST00000021116.3 ENSMUST00000021116.4 ENSMUST00000021116.5 ENSMUST00000021116.6 ENSMUST00000021116.7 ENSMUST00000021116.8 ENSMUST00000021116.9 Kiaa1753 NM_172569 Q8BL48 Q8BVI6 Q99JZ8 Q99LL9 UNK_MOUSE Zc3h5 Zc3hdc5 uc007mjp.1 uc007mjp.2 uc007mjp.3 uc007mjp.4 Sequence-specific RNA-binding protein which plays an important role in the establishment and maintenance of the early morphology of cortical neurons during embryonic development. Acts as a translation repressor and controls a translationally regulated cell morphology program to ensure proper structuring of the nervous system. Translational control depends on recognition of its binding element within target mRNAs which consists of a mandatory UAG trimer upstream of a U/A-rich motif. Associated with polysomes (PubMed:25737280). Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BL48-1; Sequence=Displayed; Name=2; IsoId=Q8BL48-2; Sequence=VSP_010274; First expressed at 12 dpc and then expression declines postnatally. Highly expressed in the developing CNS (at protein level). Belongs to the unkempt family. Sequence=BAC98248.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; in utero embryonic development neuron migration RNA binding cytoplasm polysome regulation of translation metal ion binding cell morphogenesis involved in neuron differentiation polysome binding mRNA CDS binding negative regulation of cytoplasmic translation uc007mjp.1 uc007mjp.2 uc007mjp.3 uc007mjp.4 
ENSMUST00000021120.6 Trim47 ENSMUST00000021120.6 tripartite motif-containing 47, transcript variant 1 (from RefSeq NM_001205081.1) A2A862 ENSMUST00000021120.1 ENSMUST00000021120.2 ENSMUST00000021120.3 ENSMUST00000021120.4 ENSMUST00000021120.5 NM_001205081 Q6P249 Q811J7 Q8BVZ8 Q8C0E3 Q8R1K0 Q8R3Y1 TRI47_MOUSE Trim47 uc007mjy.1 uc007mjy.2 uc007mjy.3 uc007mjy.4 E3 ubiquitin-protein ligase that mediates the ubiquitination and proteasomal degradation of CYLD. Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Protein modification; protein ubiquitination. Cytoplasm Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8C0E3-1; Sequence=Displayed; Name=2; IsoId=Q8C0E3-2; Sequence=VSP_011988; Expressed in hepatocytes, expression is increased in fatty livers. Belongs to the TRIM/RBCC family. Sequence=BAC27457.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAC35997.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; ubiquitin-protein transferase activity nucleus cytoplasm cytosol zinc ion binding protein ubiquitination transferase activity metal ion binding uc007mjy.1 uc007mjy.2 uc007mjy.3 uc007mjy.4 
ENSMUST00000021130.7 Ten1 ENSMUST00000021130.7 TEN1 telomerase capping complex subunit (from RefSeq NM_027107.1) ENSMUST00000021130.1 ENSMUST00000021130.2 ENSMUST00000021130.3 ENSMUST00000021130.4 ENSMUST00000021130.5 ENSMUST00000021130.6 NM_027107 Q9D7K2 TEN1L_MOUSE uc007mkn.1 uc007mkn.2 uc007mkn.3 Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3' overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha. The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (By similarity). Component of the CST complex, composed of TEN1, CTC1 and STN1; in the complex interacts directly with STN1. Nucleus Chromosome, telomere Belongs to the TEN1 family. chromosome, telomeric region nuclear chromosome, telomeric region DNA binding single-stranded DNA binding nucleus chromosome telomerase inhibitor activity negative regulation of telomere maintenance via telomerase telomeric DNA binding negative regulation of telomerase activity CST complex uc007mkn.1 uc007mkn.2 uc007mkn.3 
ENSMUST00000021133.16 Srp68 ENSMUST00000021133.16 signal recognition particle 68 (from RefSeq NM_146032.3) A2AAN1 ENSMUST00000021133.1 ENSMUST00000021133.10 ENSMUST00000021133.11 ENSMUST00000021133.12 ENSMUST00000021133.13 ENSMUST00000021133.14 ENSMUST00000021133.15 ENSMUST00000021133.2 ENSMUST00000021133.3 ENSMUST00000021133.4 ENSMUST00000021133.5 ENSMUST00000021133.6 ENSMUST00000021133.7 ENSMUST00000021133.8 ENSMUST00000021133.9 NM_146032 Q6NS76 Q8BMA6 SRP68_MOUSE uc007mkq.1 uc007mkq.2 Component of the signal recognition particle (SRP) complex, a ribonucleoprotein complex that mediates the cotranslational targeting of secretory and membrane proteins to the endoplasmic reticulum (ER) (By similarity). The SRP complex interacts with the signal sequence in nascent secretory and membrane proteins and directs them to the membrane of the ER (By similarity). The SRP complex targets the ribosome-nascent chain complex to the SRP receptor (SR), which is anchored in the ER, where SR compaction and GTPase rearrangement drive cotranslational protein translocation into the ER (By similarity). Binds the signal recognition particle RNA (7SL RNA), SRP72 binds to this complex subsequently (By similarity). The SRP complex possibly participates in the elongation arrest function (By similarity). Heterodimer with SRP72 (By similarity). SRP68/SRP72 heterodimer formation is stabilized by the presence of 7SL RNA (By similarity). Component of a signal recognition particle (SRP) complex that consists of a 7SL RNA molecule of 300 nucleotides and six protein subunits: SRP72, SRP68, SRP54, SRP19, SRP14 and SRP9 (By similarity). Within the SRP complex, interacts (via C-terminus) with SRP72 (via N- terminus) (By similarity). Cytoplasm Nucleus, nucleolus Endoplasmic reticulum The N-terminus is required for RNA-binding. Belongs to the SRP68 family. RNA binding signal recognition particle binding nucleus nucleolus cytoplasm signal recognition particle, endoplasmic reticulum targeting cytosol focal adhesion SRP-dependent cotranslational protein targeting to membrane 7S RNA binding protein domain specific binding endoplasmic reticulum signal peptide binding response to drug ribosome binding signal recognition particle uc007mkq.1 uc007mkq.2 
ENSMUST00000021134.10 Tsen54 ENSMUST00000021134.10 tRNA splicing endonuclease subunit 54 (from RefSeq NM_029557.1) B1ATA4 B1ATA5 ENSMUST00000021134.1 ENSMUST00000021134.2 ENSMUST00000021134.3 ENSMUST00000021134.4 ENSMUST00000021134.5 ENSMUST00000021134.6 ENSMUST00000021134.7 ENSMUST00000021134.8 ENSMUST00000021134.9 NM_029557 Q8C2A2 Q9DCI5 SEN54_MOUSE Sen54 uc007mir.1 uc007mir.2 uc007mir.3 Non-catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5' and 3' splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3' cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events (By similarity). tRNA splicing endonuclease is a heterotetramer composed of TSEN2, TSEN15, TSEN34/LENG5 and TSEN54. tRNA splicing endonuclease complex also contains proteins of the pre-mRNA 3'-end processing machinery such as CLP1, CPSF1, CPSF4 and CSTF2 (By similarity). Nucleus Nucleus, nucleolus Note=May be transiently localized in the nucleolus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8C2A2-1; Sequence=Displayed; Name=2; IsoId=Q8C2A2-2; Sequence=VSP_010990; Belongs to the SEN54 family. tRNA-intron endonuclease complex tRNA-type intron splice site recognition and cleavage nucleus nucleolus tRNA splicing, via endonucleolytic cleavage and ligation mRNA processing tRNA processing RNA phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic tRNA-intron endonuclease activity uc007mir.1 uc007mir.2 uc007mir.3 
ENSMUST00000021135.5 Ncbp3 ENSMUST00000021135.5 nuclear cap binding subunit 3 (from RefSeq NM_025818.3) ENSMUST00000021135.1 ENSMUST00000021135.2 ENSMUST00000021135.3 ENSMUST00000021135.4 NCBP3_MOUSE NM_025818 Ncbp3 Q3TNF4 Q3TQ96 Q4G0C3 Q8BMB1 Q8BZR9 Q9CRM6 Q9CS93 Q9D0G9 Q9DBT0 uc007jzv.1 uc007jzv.2 uc007jzv.3 uc007jzv.4 Associates with NCBP1/CBP80 to form an alternative cap- binding complex (CBC) which plays a key role in mRNA export. NCBP3 serves as adapter protein linking the capped RNAs (m7GpppG-capped RNA) to NCBP1/CBP80. Unlike the conventional CBC with NCBP2 which binds both small nuclear RNA (snRNA) and messenger (mRNA) and is involved in their export from the nucleus, the alternative CBC with NCBP3 does not bind snRNA and associates only with mRNA thereby playing a role in only mRNA export. The alternative CBC is particularly important in cellular stress situations such as virus infections and the NCBP3 activity is critical to inhibit virus growth (PubMed:26382858). Component of an alternative cap-binding complex (CBC) composed of NCBP1/CBP80 and NCBP3. Interacts with SRRT, KPNA3, THOC5 and EIF4A3. Nucleus Cytoplasm Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8BZR9-1; Sequence=Displayed; Name=2; IsoId=Q8BZR9-2; Sequence=VSP_029001, VSP_029002; Name=3; IsoId=Q8BZR9-3; Sequence=VSP_029000, VSP_029003; Belongs to the NCBP3 family. Sequence=BAB27625.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=BAC28111.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; RNA cap binding RNA 7-methylguanosine cap binding RNA binding mRNA binding nucleus cytoplasm 7-methylguanosine mRNA capping mRNA processing nuclear speck mRNA transport defense response to virus uc007jzv.1 uc007jzv.2 uc007jzv.3 uc007jzv.4 
ENSMUST00000021141.14 P2rx1 ENSMUST00000021141.14 purinergic receptor P2X, ligand-gated ion channel, 1 (from RefSeq NM_008771.3) ENSMUST00000021141.1 ENSMUST00000021141.10 ENSMUST00000021141.11 ENSMUST00000021141.12 ENSMUST00000021141.13 ENSMUST00000021141.2 ENSMUST00000021141.3 ENSMUST00000021141.4 ENSMUST00000021141.5 ENSMUST00000021141.6 ENSMUST00000021141.7 ENSMUST00000021141.8 ENSMUST00000021141.9 NM_008771 P2RX1_MOUSE P51576 Q5SRU4 uc007jzq.1 uc007jzq.2 uc007jzq.3 uc007jzq.4 Ligand-gated ion channel with relatively high calcium permeability. Binding to ATP mediates synaptic transmission between neurons and from neurons to smooth muscle. Seems to be linked to apoptosis, by increasing the intracellular concentration of calcium in the presence of ATP, leading to programmed cell death (By similarity). Homo- or heteropolymers. Membrane; Multi-pass membrane protein. Belongs to the P2X receptor family. purinergic nucleotide receptor activity serotonin secretion by platelet regulation of vascular smooth muscle contraction extracellular ATP-gated cation channel activity ion channel activity cation channel activity ATP binding integral component of nuclear inner membrane plasma membrane integral component of plasma membrane ion transport apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process regulation of smooth muscle contraction insemination drug binding regulation of blood pressure zinc ion binding external side of plasma membrane response to organic substance membrane integral component of membrane neuronal action potential regulation of vasoconstriction platelet activation macromolecular complex response to ATP ion transmembrane transport synaptic transmission, glutamatergic purinergic nucleotide receptor signaling pathway neuron projection positive regulation of ion transport membrane raft postsynaptic membrane ceramide biosynthetic process protein homooligomerization protein heterooligomerization regulation of calcium ion transport excitatory postsynaptic potential cation transmembrane transport glutamatergic synapse integral component of postsynaptic membrane integral component of presynaptic active zone membrane regulation of presynaptic cytosolic calcium ion concentration regulation of synaptic vesicle exocytosis uc007jzq.1 uc007jzq.2 uc007jzq.3 uc007jzq.4 
ENSMUST00000021148.13 Ube2g1 ENSMUST00000021148.13 ubiquitin-conjugating enzyme E2G 1 (from RefSeq NM_025985.4) ENSMUST00000021148.1 ENSMUST00000021148.10 ENSMUST00000021148.11 ENSMUST00000021148.12 ENSMUST00000021148.2 ENSMUST00000021148.3 ENSMUST00000021148.4 ENSMUST00000021148.5 ENSMUST00000021148.6 ENSMUST00000021148.7 ENSMUST00000021148.8 ENSMUST00000021148.9 NM_025985 Q5F239 Q5F239_MOUSE Ube2g1 uc007jzd.1 uc007jzd.2 uc007jzd.3 Reaction=S-ubiquitinyl-[E1 ubiquitin-activating enzyme]-L-cysteine + [E2 ubiquitin-conjugating enzyme]-L-cysteine = [E1 ubiquitin- activating enzyme]-L-cysteine + S-ubiquitinyl-[E2 ubiquitin- conjugating enzyme]-L-cysteine.; EC=2.3.2.23; Evidence=; Protein modification; protein ubiquitination. Belongs to the ubiquitin-conjugating enzyme family. nucleotide binding ubiquitin-protein transferase activity ATP binding transferase activity ubiquitin protein ligase binding cellular protein catabolic process ubiquitin conjugating enzyme activity protein K63-linked ubiquitination protein K48-linked ubiquitination uc007jzd.1 uc007jzd.2 uc007jzd.3 
ENSMUST00000021155.4 Tekt1 ENSMUST00000021155.4 tektin 1, transcript variant 1 (from RefSeq NM_001282006.1) ENSMUST00000021155.1 ENSMUST00000021155.2 ENSMUST00000021155.3 NM_001282006 Q9DAJ2 TEKT1_MOUSE uc033fxt.1 uc033fxt.2 uc033fxt.3 Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia and flagellar axoneme. Forms filamentous polymers in the walls of ciliary and flagellar microtubules. Interacts with TEKT3. Cytoplasm, cytoskeleton, cilium axoneme Cytoplasm, cytoskeleton, flagellum axoneme Belongs to the tektin family. microtubule microtubule cytoskeleton cilium assembly cilium movement involved in cell motility uc033fxt.1 uc033fxt.2 uc033fxt.3 
ENSMUST00000021157.9 Med31 ENSMUST00000021157.9 mediator complex subunit 31 (from RefSeq NM_026068.2) ENSMUST00000021157.1 ENSMUST00000021157.2 ENSMUST00000021157.3 ENSMUST00000021157.4 ENSMUST00000021157.5 ENSMUST00000021157.6 ENSMUST00000021157.7 ENSMUST00000021157.8 MED31_MOUSE NM_026068 Q9CXU1 Q9DAP5 Soh1 uc007jyk.1 uc007jyk.2 Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP (By similarity). Q9CXU1; Q8C1S0: Med19; NbExp=2; IntAct=EBI-309355, EBI-398761; Nucleus Belongs to the Mediator complex subunit 31 family. ubiquitin ligase complex transcription cofactor activity transcription coactivator activity protein binding nucleus nucleoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter protein ubiquitination mediator complex negative regulation of fibroblast proliferation limb development ubiquitin protein ligase activity core mediator complex positive regulation of nucleic acid-templated transcription uc007jyk.1 uc007jyk.2 
ENSMUST00000021158.4 Txndc17 ENSMUST00000021158.4 thioredoxin domain containing 17 (from RefSeq NM_026559.3) ENSMUST00000021158.1 ENSMUST00000021158.2 ENSMUST00000021158.3 NM_026559 Q3TE14 Q921A9 Q9CQM5 Q9D0Y4 TXD17_MOUSE Txnl5 uc007jyj.1 uc007jyj.2 uc007jyj.3 Disulfide reductase. May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. Modulates TNF-alpha signaling and NF-kappa-B activation. Has peroxidase activity and may contribute to the elimination of cellular hydrogen peroxide (By similarity). Interacts with TRXR1 and DYNLL1/DNCL1. Cytoplasm The oxidized protein is reduced by TRXR1. Belongs to the thioredoxin family. peroxidase activity cytoplasm cytosol tumor necrosis factor-mediated signaling pathway protein-disulfide reductase activity oxidation-reduction process cellular oxidant detoxification uc007jyj.1 uc007jyj.2 uc007jyj.3 
ENSMUST00000021161.14 Slc13a5 ENSMUST00000021161.14 solute carrier family 13 (sodium-dependent citrate transporter), member 5, transcript variant 3 (from RefSeq NM_001372403.1) ENSMUST00000021161.1 ENSMUST00000021161.10 ENSMUST00000021161.11 ENSMUST00000021161.12 ENSMUST00000021161.13 ENSMUST00000021161.2 ENSMUST00000021161.3 ENSMUST00000021161.4 ENSMUST00000021161.5 ENSMUST00000021161.6 ENSMUST00000021161.7 ENSMUST00000021161.8 ENSMUST00000021161.9 NM_001372403 Nact Q67BT3 S13A5_MOUSE uc007jym.1 uc007jym.2 uc007jym.3 uc007jym.4 High-affinity sodium/citrate cotransporter that mediates citrate entry into cells, which is a critical participant of biochemical pathways (PubMed:35448538, PubMed:26324167, PubMed:14656221). May function in various metabolic processes in which citrate has a critical role such as energy production (Krebs cycle), fatty acid synthesis, cholesterol synthesis, glycolysis, and gluconeogenesis (PubMed:12826022). Transports citrate into the cell in a Na(+)-dependent manner, recognizing the trivalent form of citrate (physiological pH) rather than the divalent form (PubMed:12826022, PubMed:14656221, PubMed:26324167). Can recognizes succinate as a substrate, but its affinity for succinate is several fold lower than for citrate (PubMed:26324167, PubMed:14656221). The stoichiometry is probably 4 Na(+) for each carboxylate, irrespective of whether the translocated substrate is divalent or trivalent, rendering the process electrogenic (PubMed:26324167, PubMed:14656221). Involved in the regulation of citrate levels in the brain (PubMed:32682952). Reaction=citrate(out) + 4 Na(+)(out) = citrate(in) + 4 Na(+)(in); Xref=Rhea:RHEA:65664, ChEBI:CHEBI:16947, ChEBI:CHEBI:29101; Evidence= Inhibited by Li(+). Kinetic parameters: KM=35.2 uM for citrate ; pH dependence: Optimum pH is 7.0 for citrate. ; Homodimer. Cell membrane ; Multi-pass membrane protein Mice show increased propensity for epileptic seizures, proepileptogenic neuronal excitability changes in the hippocampus, and significant citrate level alterations in the CSF and brain tissue (PubMed:32682952). Null mice show perturbations in fatty acids, bile acids, and energy metabolites in liver, serum, and brain (PubMed:35448538). Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. organic acid:sodium symporter activity plasma membrane ion transport sodium ion transport tricarboxylic acid transport citrate transmembrane transporter activity succinate transmembrane transporter activity tricarboxylic acid transmembrane transporter activity symporter activity succinate transport citrate transport membrane integral component of membrane basolateral plasma membrane sodium:dicarboxylate symporter activity transmembrane transporter activity tricarboxylic acid transmembrane transport transmembrane transport succinate transmembrane transport organic acid transmembrane transport uc007jym.1 uc007jym.2 uc007jym.3 uc007jym.4 
ENSMUST00000021164.4 Pimreg ENSMUST00000021164.4 PICALM interacting mitotic regulator, transcript variant 1 (from RefSeq NM_144526.4) Cats ENSMUST00000021164.1 ENSMUST00000021164.2 ENSMUST00000021164.3 Fam64a NM_144526 PIMRE_MOUSE Pimreg Q8BFY7 Q8K2Z7 Rcs1 uc007jxz.1 uc007jxz.2 uc007jxz.3 During mitosis, may play a role in the metaphase-to-anaphase transition. Interacts with PICALM; this interaction may target PICALM to the nucleus. During mitosis, associates with HDAC2 and MTA2 subunits of the chromatin-remodeling NuRD complex; this association is strongest at prometaphase and decreases as the cell progresses through metaphase and anaphase. Nucleus Nucleus, nucleolus Note=Partially localizes to the nucleolus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BFY7-1; Sequence=Displayed; Name=2; IsoId=Q8BFY7-2; Sequence=VSP_023998; Mainly expressed in thymus and ovary. Expressed in all T-cell subpopulations isolated from the thymus, macrophages, pro- erythrocytes, granulocytes, mast cells and progenitor cells. Widely expressed at 9.5 dpc, including high levels in the neural tube, somites, the posterior region of the midbrain, olfactory placode and the branchial arches. At 10.5 dpc, reduction of the widespread expression and stronger expression in the neural tube, branchial arches, developing limbs, telencephalon, nasal process, lense vesicle, anterior and posterior regions of the mid- and hindbrain. From 11.5 dpc on, strongly expressed in the genital tubercle and hair and vibrissae follicles. From 12.5 dpc onwards, expression decreases, with a complete lack of expression in the cephalic region and the neural tube at 14.5 dpc. Strongly expressed during limb development, with higher levels in hindlimbs compared to forelimbs and expression slightly more marked in the posterior region of the limb buds. At 11.5 and 12.5 dpc, detected at the distal domain and the underlying mesenchyme, but not in the apical ectodermal ridge. Distally, becomes confined to the digits at 13.5 and 14.5 dpc. The N-terminal destruction box 2 (D-box 2) is required for APC/C ubiquitination and proteasomal degradation. Ubiquitinated by the anaphase-promoting complex/cyclosome (APC/C) complex in the presence of FZR1, leading to its degradation by the proteasome during mitotic exit. However, degradation is not essential for normal mitotic progression within a single cell cycle (By similarity). molecular_function nucleus nucleolus cell cycle cell division uc007jxz.1 uc007jxz.2 uc007jxz.3 
ENSMUST00000021166.6 Cygb ENSMUST00000021166.6 cytoglobin, transcript variant 1 (from RefSeq NM_030206.5) CYGB_MOUSE ENSMUST00000021166.1 ENSMUST00000021166.2 ENSMUST00000021166.3 ENSMUST00000021166.4 ENSMUST00000021166.5 NM_030206 Q9CX80 uc007mlv.1 uc007mlv.2 May have a protective function during conditions of oxidative stress. May be involved in intracellular oxygen storage or transfer. Cytoplasm Belongs to the globin family. response to hypoxia catalase activity peroxidase activity oxygen transporter activity iron ion binding cytoplasm response to oxidative stress negative regulation of fibroblast migration oxygen transport nuclear speck fatty acid oxidation oxygen binding heme binding negative regulation of collagen biosynthetic process neuron projection neuronal cell body metal ion binding fatty acid peroxidase activity cellular oxidant detoxification negative regulation of hepatic stellate cell activation uc007mlv.1 uc007mlv.2 
ENSMUST00000021168.14 Wscd1 ENSMUST00000021168.14 WSC domain containing 1, transcript variant 1 (from RefSeq NM_177618.4) ENSMUST00000021168.1 ENSMUST00000021168.10 ENSMUST00000021168.11 ENSMUST00000021168.12 ENSMUST00000021168.13 ENSMUST00000021168.2 ENSMUST00000021168.3 ENSMUST00000021168.4 ENSMUST00000021168.5 ENSMUST00000021168.6 ENSMUST00000021168.7 ENSMUST00000021168.8 ENSMUST00000021168.9 Kiaa0523 NM_177618 Q3TQ40 Q5DU24 Q80XH4 Q8BX34 WSCD1_MOUSE uc007jxv.1 uc007jxv.2 uc007jxv.3 uc007jxv.4 Sialate:O-sulfotransferase which catalyzes 8-O-sulfation at the Sia-glycan level using 3'-phosphoadenosine 5'-phosphosulfate (PAPS) as a donor, forming 8-O-sulfated Sia (Sia8S)-glycans. Golgi apparatus membrane ; Single-pass type II membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q80XH4-1; Sequence=Displayed; Name=2; IsoId=Q80XH4-2; Sequence=VSP_028209, VSP_028210; Belongs to the WSCD family. Sequence=BAD90411.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; molecular_function cellular_component sulfotransferase activity biological_process membrane integral component of membrane uc007jxv.1 uc007jxv.2 uc007jxv.3 uc007jxv.4 
ENSMUST00000021170.9 Mxra7 ENSMUST00000021170.9 matrix-remodelling associated 7, transcript variant 1 (from RefSeq NM_026280.3) A2AA24 B2RVR9 ENSMUST00000021170.1 ENSMUST00000021170.2 ENSMUST00000021170.3 ENSMUST00000021170.4 ENSMUST00000021170.5 ENSMUST00000021170.6 ENSMUST00000021170.7 ENSMUST00000021170.8 MXRA7_MOUSE NM_026280 Q8C6F8 Q9CZH7 uc007mmf.1 uc007mmf.2 uc007mmf.3 uc007mmf.4 Membrane ; Single-pass membrane protein molecular_function cellular_component biological_process membrane integral component of membrane uc007mmf.1 uc007mmf.2 uc007mmf.3 uc007mmf.4 
ENSMUST00000021173.14 Mfsd11 ENSMUST00000021173.14 major facilitator superfamily domain containing 11, transcript variant 1 (from RefSeq NM_178620.4) A2AA30 A2AA32 B2RQK5 ENSMUST00000021173.1 ENSMUST00000021173.10 ENSMUST00000021173.11 ENSMUST00000021173.12 ENSMUST00000021173.13 ENSMUST00000021173.2 ENSMUST00000021173.3 ENSMUST00000021173.4 ENSMUST00000021173.5 ENSMUST00000021173.6 ENSMUST00000021173.7 ENSMUST00000021173.8 ENSMUST00000021173.9 Et MFS11_MOUSE NM_178620 O54844 Q8BJ51 Q8BJ61 uc007mms.1 uc007mms.2 uc007mms.3 uc007mms.4 Membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BJ51-1; Sequence=Displayed; Name=2; IsoId=Q8BJ51-2; Sequence=VSP_028189; Widely expressed. Belongs to the unc-93 family. Despite its name it is related to the unc-93 family and not to the major facilitator superfamily. molecular_function cellular_component biological_process membrane integral component of membrane uc007mms.1 uc007mms.2 uc007mms.3 uc007mms.4 
ENSMUST00000021177.15 Sec14l1 ENSMUST00000021177.15 SEC14-like lipid binding 1, transcript variant 1 (from RefSeq NM_028777.4) A2A9B9 A8Y5H7 ENSMUST00000021177.1 ENSMUST00000021177.10 ENSMUST00000021177.11 ENSMUST00000021177.12 ENSMUST00000021177.13 ENSMUST00000021177.14 ENSMUST00000021177.2 ENSMUST00000021177.3 ENSMUST00000021177.4 ENSMUST00000021177.5 ENSMUST00000021177.6 ENSMUST00000021177.7 ENSMUST00000021177.8 ENSMUST00000021177.9 Kiaa4251 NM_028777 Q6A071 Q99J07 Q9DBQ0 S14L1_MOUSE Sec14l1 uc007mnb.1 uc007mnb.2 uc007mnb.3 uc007mnb.4 May play a role in innate immunity by inhibiting the antiviral RIG-I signaling pathway. In this pathway, functions as a negative regulator of RIGI, the cytoplasmic sensor of viral nucleic acids. Prevents the interaction of RIGI with MAVS/IPS1, an important step in signal propagation. May also regulate the SLC18A3 and SLC5A7 cholinergic transporters. Interacts with RIGI (via tandem CARD domain); the interaction is direct. Interacts (via GOLD domain) with SLC18A3; the interaction is direct. Interacts with SLC5A7 (via GOLD domain); the interaction is direct. Cytoplasm Golgi apparatus Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=A8Y5H7-1; Sequence=Displayed; Name=2; IsoId=A8Y5H7-2; Sequence=VSP_058109; Name=3; IsoId=A8Y5H7-3; Sequence=VSP_058110; immune system process nucleoplasm cytoplasm Golgi apparatus cytosol negative regulation of signal transduction choline transport negative regulation of RIG-I signaling pathway RIG-I binding innate immune response molecular function regulator uc007mnb.1 uc007mnb.2 uc007mnb.3 uc007mnb.4 
ENSMUST00000021179.4 Vmo1 ENSMUST00000021179.4 vitelline membrane outer layer 1 homolog (chicken) (from RefSeq NM_001013607.1) A2CFA5 ENSMUST00000021179.1 ENSMUST00000021179.2 ENSMUST00000021179.3 Gm741 NM_001013607 Q5SXG7 VMO1_MOUSE uc007jvc.1 uc007jvc.2 Secreted Belongs to the VMO1 family. molecular_function extracellular region biological_process uc007jvc.1 uc007jvc.2 
ENSMUST00000021183.4 Eral1 ENSMUST00000021183.4 Era like 12S mitochondrial rRNA chaperone 1 (from RefSeq NM_022313.2) ENSMUST00000021183.1 ENSMUST00000021183.2 ENSMUST00000021183.3 ERAL1_MOUSE Mera NM_022313 Q6NV78 Q8VE60 Q925U1 Q9CZU4 uc007kia.1 uc007kia.2 uc007kia.3 Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly (By similarity). Mitochondrion matrix Mitochondrion inner membrane ; Peripheral membrane protein Note=Localizes on the matrix side on the mitochondrial inner membrane. Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. Era GTPase family. ribosomal small subunit assembly nucleotide binding RNA binding GTP binding mitochondrion mitochondrial inner membrane mitochondrial matrix cytosol membrane rRNA binding ribosome biogenesis ribosomal small subunit binding uc007kia.1 uc007kia.2 uc007kia.3 
ENSMUST00000021187.12 Dhrs13 ENSMUST00000021187.12 dehydrogenase/reductase 13 (from RefSeq NM_183286.2) DHR13_MOUSE Dhrs13 ENSMUST00000021187.1 ENSMUST00000021187.10 ENSMUST00000021187.11 ENSMUST00000021187.2 ENSMUST00000021187.3 ENSMUST00000021187.4 ENSMUST00000021187.5 ENSMUST00000021187.6 ENSMUST00000021187.7 ENSMUST00000021187.8 ENSMUST00000021187.9 NM_183286 Q14BH2 Q5SS80 Q8BMX8 Sdr7c5 uc007khu.1 uc007khu.2 uc007khu.3 Putative oxidoreductase. Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5SS80-1; Sequence=Displayed; Name=2; IsoId=Q5SS80-2; Sequence=VSP_029641; Belongs to the short-chain dehydrogenases/reductases (SDR) family. Sequence=BAC25347.1; Type=Frameshift; Evidence=; extracellular region oxidoreductase activity oxidation-reduction process uc007khu.1 uc007khu.2 uc007khu.3 
ENSMUST00000021190.9 Coro6 ENSMUST00000021190.9 coronin 6, transcript variant E (from RefSeq NR_160865.1) CORO6_MOUSE ENSMUST00000021190.1 ENSMUST00000021190.2 ENSMUST00000021190.3 ENSMUST00000021190.4 ENSMUST00000021190.5 ENSMUST00000021190.6 ENSMUST00000021190.7 ENSMUST00000021190.8 NR_160865 Q3TZ14 Q5F262 Q5F263 Q5F264 Q5F265 Q920M3 Q920M4 Q920M5 uc007kgs.1 uc007kgs.2 Event=Alternative splicing; Named isoforms=4; Name=A; IsoId=Q920M5-1; Sequence=Displayed; Name=B; IsoId=Q920M5-2; Sequence=VSP_011749; Name=C; IsoId=Q920M5-3; Sequence=VSP_011750; Name=D; IsoId=Q920M5-4; Sequence=VSP_011749, VSP_021487; actin filament organization cell migration actin filament binding uc007kgs.1 uc007kgs.2 
ENSMUST00000021197.10 Blmh ENSMUST00000021197.10 bleomycin hydrolase (from RefSeq NM_178645.4) BLMH_MOUSE ENSMUST00000021197.1 ENSMUST00000021197.2 ENSMUST00000021197.3 ENSMUST00000021197.4 ENSMUST00000021197.5 ENSMUST00000021197.6 ENSMUST00000021197.7 ENSMUST00000021197.8 ENSMUST00000021197.9 NM_178645 Q3TJR8 Q8BLZ4 Q8BZH9 Q8C111 Q8CID9 Q8R016 uc007kge.1 uc007kge.2 uc007kge.3 uc007kge.4 The encoded protein is a cytoplasmic cysteine peptidase involved in inactivation of bleomycin, a glycopeptide which is a component of combination chemotherapy regimens for cancer. This encoded enzyme is highly conserved, and it contains the signature active site residues of cysteine protease papain superfamily enzymes. It is postulated that this enzyme has protective effects against bleomycin-induced pulmonary fibrosis and bleomycin tumor resistance. [provided by RefSeq, Jan 2010]. ##Evidence-Data-START## Transcript exon combination :: AK049461.1, BC027403.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## The normal physiological role of BLM hydrolase is unknown, but it catalyzes the inactivation of the antitumor drug BLM (a glycopeptide) by hydrolyzing the carboxamide bond of its B- aminoalaninamide moiety thus protecting normal and malignant cells from BLM toxicity. Reaction=Inactivates bleomycin B2 (a cytotoxic glycometallopeptide) by hydrolysis of a carboxyamide bond of beta-aminoalanine, but also shows general aminopeptidase activity. The specificity varies somewhat with source, but amino acid arylamides of Met, Leu and Ala are preferred.; EC=3.4.22.40; Homohexamer (By similarity). Interacts with NUDT12 (via ANK repeats) (By similarity). Cytoplasm Cytoplasmic granule Note=Co-localizes with NUDT12 in the cytoplasmic granules. Belongs to the peptidase C1 family. cysteine-type endopeptidase activity cytoplasm proteolysis peptidase activity cysteine-type peptidase activity response to toxic substance hydrolase activity response to drug identical protein binding homocysteine catabolic process uc007kge.1 uc007kge.2 uc007kge.3 uc007kge.4 
ENSMUST00000021201.6 Cpd ENSMUST00000021201.6 carboxypeptidase D (from RefSeq NM_007754.2) CBPD_MOUSE ENSMUST00000021201.1 ENSMUST00000021201.2 ENSMUST00000021201.3 ENSMUST00000021201.4 ENSMUST00000021201.5 NM_007754 O89001 Q5SVH8 uc007kga.1 uc007kga.2 uc007kga.3 Reaction=Releases C-terminal Arg and Lys from polypeptides.; EC=3.4.17.22; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) ions per subunit. ; Cell membrane ; Single-pass type I membrane protein There are 3 carboxypeptidase-like domains. Only the first two domains seem to have kept a catalytic activity. Belongs to the peptidase M14 family. carboxypeptidase activity metallocarboxypeptidase activity serine-type carboxypeptidase activity extracellular space nucleus trans-Golgi network plasma membrane proteolysis peptide metabolic process peptidase activity metallopeptidase activity zinc ion binding membrane integral component of membrane protein processing hydrolase activity intracellular membrane-bounded organelle macromolecular complex binding metal ion binding perinuclear region of cytoplasm protein phosphatase 2A binding uc007kga.1 uc007kga.2 uc007kga.3 
ENSMUST00000021203.7 Timm22 ENSMUST00000021203.7 translocase of inner mitochondrial membrane 22, transcript variant 1 (from RefSeq NM_019818.5) ENSMUST00000021203.1 ENSMUST00000021203.2 ENSMUST00000021203.3 ENSMUST00000021203.4 ENSMUST00000021203.5 ENSMUST00000021203.6 NM_019818 Q5SSL1 Q5SSL2 Q8QZU2 Q9CQ85 Q9JKW2 TIM22_MOUSE Tim22 uc007kfq.1 uc007kfq.2 uc007kfq.3 uc007kfq.4 uc007kfq.5 Essential core component of the TIM22 complex, a complex that mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. In the TIM22 complex, it constitutes the voltage-activated and signal-gated channel. Forms a twin-pore translocase that uses the membrane potential as external driving force in 2 voltage-dependent steps (By similarity). Component of the TIM22 complex, whose core is composed of TIMM22, associated with peripheral protein FXC1/TIMM10B and the 70 kDa heterohexamer. In most cases, the 70 kDa complex is composed of TIMM9 and TIMM10 (TIMM10A or TIMM10B). A small fraction of the 70 kDa complex is composed of TIMM8 (TIMM8A/DDP1 or TIMM8B/DDP2) and TIMM13. The TIM22 complex also contains AGK and TIMM29. Interacts directly with TIMM9, TIMM10A and FXC1/TIMM10B. Interacts (when oxidized) with TIMM29; interaction is direct. Mitochondrion inner membrane ; Multi-pass membrane protein Disulfide bonds promote efficient assembly of the TIM22 complex. Belongs to the Tim17/Tim22/Tim23 family. Sequence=CAI25857.1; Type=Erroneous gene model prediction; Evidence=; protein binding mitochondrion mitochondrial inner membrane protein transmembrane transporter activity protein transport membrane integral component of membrane mitochondrion targeting sequence binding mitochondrial inner membrane protein insertion complex protein import into mitochondrial inner membrane protein transmembrane transport uc007kfq.1 uc007kfq.2 uc007kfq.3 uc007kfq.4 uc007kfq.5 
ENSMUST00000021204.4 Nxn ENSMUST00000021204.4 nucleoredoxin (from RefSeq NM_008750.5) ENSMUST00000021204.1 ENSMUST00000021204.2 ENSMUST00000021204.3 Gn25 NM_008750 NXN_MOUSE P97346 Q5H8T6 Q5H8U0 Q99KF3 uc007kfo.1 uc007kfo.2 uc007kfo.3 uc007kfo.4 Functions as a redox-dependent negative regulator of the Wnt signaling pathway, possibly by preventing ubiquitination of DVL3 by the BCR(KLHL12) complex. May also function as a transcriptional regulator act as a regulator of protein phosphatase 2A (PP2A). Reaction=[protein]-dithiol + NAD(+) = [protein]-disulfide + H(+) + NADH; Xref=Rhea:RHEA:18749, Rhea:RHEA-COMP:10593, Rhea:RHEA- COMP:10594, ChEBI:CHEBI:15378, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.8.1.8; Evidence=; Reaction=[protein]-dithiol + NADP(+) = [protein]-disulfide + H(+) + NADPH; Xref=Rhea:RHEA:18753, Rhea:RHEA-COMP:10593, Rhea:RHEA- COMP:10594, ChEBI:CHEBI:15378, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.8.1.8; Evidence=; Associates with the phosphatase 2A holoenzyme. Interacts with PPP2CA; the interaction is direct. Interacts with DVL1 (via PDZ domain); the interaction is direct and regulated by oxidative stress. P97346; P67775: PPP2CA; Xeno; NbExp=2; IntAct=EBI-309684, EBI-712311; P97346; P30153: PPP2R1A; Xeno; NbExp=2; IntAct=EBI-309684, EBI-302388; P97346; Q9UGP8: SEC63; Xeno; NbExp=6; IntAct=EBI-309684, EBI-1045560; Cytoplasm, cytosol Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P97346-1; Sequence=Displayed; Name=2; IsoId=P97346-2; Sequence=VSP_033396, VSP_033397; Widely expressed with higher expression in testis and skin. Specifically expressed form 9.5 dpc to 12.5 dpc in limb buds. Perinatal lethality, possibly due abnormal cardiovascular development. Osteoblasts show an aberrant activation of the Wnt signaling pathway. Belongs to the nucleoredoxin family. in utero embryonic development thioredoxin-disulfide reductase activity protein binding nucleus cytoplasm cytosol multicellular organism development Wnt signaling pathway oxidoreductase activity cell differentiation negative regulation of Wnt signaling pathway negative regulation of protein ubiquitination cell redox homeostasis protein-disulfide reductase activity oxidation-reduction process cardiovascular system development cellular oxidant detoxification uc007kfo.1 uc007kfo.2 uc007kfo.3 uc007kfo.4 
ENSMUST00000021207.7 Rflnb ENSMUST00000021207.7 refilin B (from RefSeq NM_029658.1) Cfm1 ENSMUST00000021207.1 ENSMUST00000021207.2 ENSMUST00000021207.3 ENSMUST00000021207.4 ENSMUST00000021207.5 ENSMUST00000021207.6 Fam101b NM_029658 Q5SVD0 Q9DB69 RFLB_MOUSE Rflnb uc007kez.1 uc007kez.2 uc007kez.3 uc007kez.4 Involved in the regulation of the perinuclear actin network and nuclear shape through interaction with filamins. Plays an essential role in the formation of cartilaginous skeletal elements. Interacts with FLNA and FLNB. Cytoplasm, cytoskeleton Note=Colocalizes with FLNA along actin bundle-like structures. Detected in various tissues, with highest expression in lung, followed by spleen. At 15.5 dpc, expressed in developing ribs and nucleus pulposus in intervertebral disks. At 18.5 dpc, expression is detected in proliferating and prehypertrophic chondrocytes. No visible phenotype; probably due to redundancy with RFLN. RFLNA and RFLNB double mutant mice exhibit severe skeletal malformations, as characterized by scoliosis, kyphosis, intervertebral disks defects, vertebral fusion in the spine and longitudinal bone growth retardation. Chondrocyte maturation is accelerated in double mutant mice. Belongs to the Refilin family. epithelial to mesenchymal transition cytoplasm cytoskeleton actin cytoskeleton actin cytoskeleton organization filamin binding actin filament bundle skeletal system morphogenesis regulation of chondrocyte development negative regulation of chondrocyte development actin filament bundle organization negative regulation of bone mineralization involved in bone maturation uc007kez.1 uc007kez.2 uc007kez.3 uc007kez.4 
ENSMUST00000021209.8 Doc2b ENSMUST00000021209.8 double C2, beta (from RefSeq NM_007873.3) DOC2B_MOUSE ENSMUST00000021209.1 ENSMUST00000021209.2 ENSMUST00000021209.3 ENSMUST00000021209.4 ENSMUST00000021209.5 ENSMUST00000021209.6 ENSMUST00000021209.7 NM_007873 P70169 Q5SS41 Q6NXK3 uc007kev.1 uc007kev.2 uc007kev.3 uc007kev.4 uc007kev.5 The protein encoded by this gene is a calcium sensor involved in glucose-stimulated insulin secretion, spontaneous neurotransmitter release, and enhanced SNARE-dependent vesicle fusion. [provided by RefSeq, Sep 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC067030.1, D85037.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Calcium sensor which positively regulates SNARE-dependent fusion of vesicles with membranes. Binds phospholipids in a calcium- dependent manner and may act at the priming stage of fusion by modifying membrane curvature to stimulate fusion. Involved in calcium- triggered exocytosis in chromaffin cells and calcium-dependent spontaneous release of neurotransmitter in absence of action potentials in neuronal cells. Involved both in glucose-stimulated insulin secretion in pancreatic cells and insulin-dependent GLUT4 transport to the plasma membrane in adipocytes. Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Interacts with cytoplasmic dynein light chain DYNLT1. May interact with UNC13A; the interaction mediates targeting to the plasma membrane (By similarity). Probably interacts with the SNARE (soluble N- ethylmaleimide-sensitive factor attached protein receptor) complex composed of SNAP25, STX1A and VAMP2; the interaction is calcium- dependent and competitive with SYT1. Interacts with STX4; the interaction is calcium-dependent, increased by insulin and glucose, and mediates vesicle fusion with plasma membrane in pancreatic cells and adipocytes. Interacts with STXBP3; the interaction is direct, occurs at the cell membrane and regulates glucose-stimulated insulin secretion. Cytoplasm. Cytoplasmic granule. Cell membrane; Peripheral membrane protein. Note=Translocates to the plasma membrane in a calcium-dependent manner. Widely expressed. Expressed in pancreatic islet cells (at protein level). C2 domain 1 is involved in binding calcium and phospholipids. According to PubMed:19033398, the C2 domain 2 may also play a role in the calcium-dependent targeting to membranes. Mice are viable and fertile without gross abnormalities. calcium ion binding protein binding calcium-dependent phospholipid binding cytoplasm plasma membrane protein localization membrane syntaxin binding positive regulation of vesicle fusion positive regulation of insulin secretion positive regulation of calcium ion-dependent exocytosis calcium ion-regulated exocytosis of neurotransmitter spontaneous neurotransmitter secretion presynapse SNARE complex uc007kev.1 uc007kev.2 uc007kev.3 uc007kev.4 uc007kev.5 
ENSMUST00000021217.11 Nme2 ENSMUST00000021217.11 NME/NM23 nucleoside diphosphate kinase 2, transcript variant 1 (from RefSeq NM_008705.5) ENSMUST00000021217.1 ENSMUST00000021217.10 ENSMUST00000021217.2 ENSMUST00000021217.3 ENSMUST00000021217.4 ENSMUST00000021217.5 ENSMUST00000021217.6 ENSMUST00000021217.7 ENSMUST00000021217.8 ENSMUST00000021217.9 NM_008705 Nme2 Q5NC82 Q5NC82_MOUSE uc007kxt.1 uc007kxt.2 uc007kxt.3 uc007kxt.4 Reaction=ATP + protein L-histidine = ADP + protein N-phospho-L- histidine.; EC=2.7.13.3; Evidence=; Reaction=a 2'-deoxyribonucleoside 5'-diphosphate + ATP = a 2'- deoxyribonucleoside 5'-triphosphate + ADP; Xref=Rhea:RHEA:44640, ChEBI:CHEBI:30616, ChEBI:CHEBI:61560, ChEBI:CHEBI:73316, ChEBI:CHEBI:456216; EC=2.7.4.6; Evidence= Reaction=a ribonucleoside 5'-diphosphate + ATP = a ribonucleoside 5'- triphosphate + ADP; Xref=Rhea:RHEA:18113, ChEBI:CHEBI:30616, ChEBI:CHEBI:57930, ChEBI:CHEBI:61557, ChEBI:CHEBI:456216; EC=2.7.4.6; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Cytoplasm Belongs to the NDK family. nucleotide binding ruffle negative regulation of myeloid leukocyte differentiation DNA binding transcription coactivator activity nucleoside diphosphate kinase activity protein serine/threonine kinase activity fatty acid binding ATP binding cytoplasm intermediate filament nucleoside diphosphate phosphorylation GTP biosynthetic process UTP biosynthetic process CTP biosynthetic process adenylate cyclase-activating G-protein coupled receptor signaling pathway integrin-mediated signaling pathway drug binding nucleoside triphosphate biosynthetic process positive regulation of neuron projection development kinase activity phosphorylation transferase activity GDP binding intermediate filament binding enzyme binding lamellipodium mitochondrial membrane cellular response to oxidative stress negative regulation of apoptotic process positive regulation of keratinocyte differentiation regulation of epidermis development positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein autophosphorylation perinuclear region of cytoplasm positive regulation of epithelial cell proliferation protein oligomerization G-quadruplex DNA binding response to growth hormone cellular response to glucose stimulus cellular response to fatty acid cell periphery uc007kxt.1 uc007kxt.2 uc007kxt.3 uc007kxt.4 
ENSMUST00000021239.7 Lrrc59 ENSMUST00000021239.7 leucine rich repeat containing 59 (from RefSeq NM_133807.2) ENSMUST00000021239.1 ENSMUST00000021239.2 ENSMUST00000021239.3 ENSMUST00000021239.4 ENSMUST00000021239.5 ENSMUST00000021239.6 LRC59_MOUSE NM_133807 Q3TJ35 Q3TLC7 Q3TWT9 Q3TX86 Q922Q8 uc007kze.1 uc007kze.2 uc007kze.3 Required for nuclear import of FGF1, but not that of FGF2. Might regulate nuclear import of exogenous FGF1 by facilitating interaction with the nuclear import machinery and by transporting cytosolic FGF1 to, and possibly through, the nuclear pores (By similarity). Can form homodimers. Interacts with SGO1. Interacts with FGF1. Microsome membrane ; Single-pass type II membrane protein Endoplasmic reticulum membrane ; Single-pass type II membrane protein Nucleus envelope Note=Localization in the nuclear envelope depends upon the nuclear import machinery, including KPNB1. Sequence=AAH06877.1; Type=Erroneous initiation; Evidence=; Sequence=BAE35030.1; Type=Erroneous initiation; Evidence=; Sequence=BAE38865.1; Type=Erroneous initiation; Evidence=; Sequence=BAE39660.1; Type=Erroneous initiation; Evidence=; nucleus nuclear envelope endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane organelle membrane mitochondrial nucleoid intracellular membrane-bounded organelle uc007kze.1 uc007kze.2 uc007kze.3 
ENSMUST00000021240.7 Cdc34b ENSMUST00000021240.7 Belongs to the ubiquitin-conjugating enzyme family. (from UniProt A0A140T8I4) A0A140T8I4 A0A140T8I4_MOUSE Cdc34b ENSMUST00000021240.1 ENSMUST00000021240.2 ENSMUST00000021240.3 ENSMUST00000021240.4 ENSMUST00000021240.5 ENSMUST00000021240.6 LF198789 uc288bmy.1 uc288bmy.2 Belongs to the ubiquitin-conjugating enzyme family. nucleotide binding ATP binding transferase activity uc288bmy.1 uc288bmy.2 
ENSMUST00000021241.8 Dlx4 ENSMUST00000021241.8 distal-less homeobox 4 (from RefSeq NM_007867.4) DLX4_MOUSE Dlx7 ENSMUST00000021241.1 ENSMUST00000021241.2 ENSMUST00000021241.3 ENSMUST00000021241.4 ENSMUST00000021241.5 ENSMUST00000021241.6 ENSMUST00000021241.7 NM_007867 P70436 Q3UM51 Q8R4I3 uc007kzz.1 uc007kzz.2 uc007kzz.3 uc007kzz.4 May play a role in determining the production of hemoglobin S. May act as a repressor. During embryonic development, plays a role in palatogenesis. Nucleus Branchial arches, molar and incisor teeth and limbs. Expressed in the mesenchyme of the anterior palate at 12.5 dpc, prior to the time of palate closure. Expression levels decrease at later time periods after palate closure. Belongs to the distal-less homeobox family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development cell differentiation sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter uc007kzz.1 uc007kzz.2 uc007kzz.3 uc007kzz.4 
ENSMUST00000021242.5 Tac4 ENSMUST00000021242.5 tachykinin 4 (from RefSeq NM_053093.2) ENSMUST00000021242.1 ENSMUST00000021242.2 ENSMUST00000021242.3 ENSMUST00000021242.4 NM_053093 Q99N14 TKN4_MOUSE Tac4 uc007lac.1 uc007lac.2 uc007lac.3 uc007lac.4 Tachykinins are active peptides which excite neurons, evoke behavioral responses, are potent vasodilators and secretagogues, and contract (directly or indirectly) many smooth muscles. Hemokinin induces plasma extravasation, mast cell degranulation, muscle contraction, salivary secretion and scratching behavior. Increases sperm motility. Induces potent analgesic effects and may play a role in pain modulation. Promotes survival of bone marrow B lineage cells and of cultured LPS-stimulated pre-B cells and may act as an autocrine factor required for B-cell survival and proliferation. Lowers systemic arterial pressure following intravenous injection. Induces interferon- gamma production and may play a role in the inflammatory response. Shows potent affinity and specificity for the NK-1 receptor. Secreted Expressed in hematopoietic cells with highest levels in pre- and pro-B cells but not in later developmental stages. Also detected in uterus, skeletal muscle, brain, spleen, stomach, skin and lactating mammary gland and in cells of myeloid lineage including dendritic and microglial cells and macrophages. In uterus, highest expression is observed in non-pregnant diestrus mice and in day 5 pregnant mice. Compared with mice in diestrus, decreases 2.6-fold in uteri from non-pregnant mice in estrus and 10.2-fold in day 17 pregnant mice. Detected at sites of chronic inflammation such as granulomas. Belongs to the tachykinin family. receptor binding extracellular region extracellular space cell inflammatory response positive regulation of cytosolic calcium ion concentration tachykinin receptor signaling pathway regulation of blood pressure substance P receptor binding substance K receptor binding mast cell granule mast cell degranulation positive regulation of saliva secretion receptor agonist activity uc007lac.1 uc007lac.2 uc007lac.3 uc007lac.4 
ENSMUST00000021243.16 Slc35b1 ENSMUST00000021243.16 solute carrier family 35, member B1, transcript variant 1 (from RefSeq NM_016752.4) ENSMUST00000021243.1 ENSMUST00000021243.10 ENSMUST00000021243.11 ENSMUST00000021243.12 ENSMUST00000021243.13 ENSMUST00000021243.14 ENSMUST00000021243.15 ENSMUST00000021243.2 ENSMUST00000021243.3 ENSMUST00000021243.4 ENSMUST00000021243.5 ENSMUST00000021243.6 ENSMUST00000021243.7 ENSMUST00000021243.8 ENSMUST00000021243.9 NM_016752 P97858 Q8CF70 S35B1_MOUSE Ugalt2 uc007lah.1 uc007lah.2 uc007lah.3 ATP:ADP antiporter that catalyzes the exchange of ATP and ADP across the endoplasmic reticulum (ER) membrane. Imports ATP from the cytosol to the ER lumen and exports ADP in the opposite direction. Regulates ER energy metabolism and protein biogenesis. Appears to be part of a calcium-dependent ER to cytosol low energy response axis, where calcium efflux from ER to the cytosol triggers ATP import into the ER lumen to maintain sufficient ATP supply. Provides ATP to ER chaperone HSPA5 that drives protein folding and trafficking in the ER. Can transport dATP, UTP or UDP in exchange for ATP, but the physiological relevance of this process remains to be established. Reaction=ADP(in) + ATP(out) = ADP(out) + ATP(in); Xref=Rhea:RHEA:34999, ChEBI:CHEBI:30616, ChEBI:CHEBI:456216; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:35001; Evidence=; Reaction=ATP(in) + UDP(out) = ATP(out) + UDP(in); Xref=Rhea:RHEA:73707, ChEBI:CHEBI:30616, ChEBI:CHEBI:58223; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:73708; Evidence=; Reaction=ATP(in) + UTP(out) = ATP(out) + UTP(in); Xref=Rhea:RHEA:73711, ChEBI:CHEBI:30616, ChEBI:CHEBI:46398; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:73712; Evidence=; Reaction=ATP(in) + dATP(out) = ATP(out) + dATP(in); Xref=Rhea:RHEA:73715, ChEBI:CHEBI:30616, ChEBI:CHEBI:61404; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:73716; Evidence=; Endoplasmic reticulum membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P97858-1; Sequence=Displayed; Name=2; IsoId=P97858-2; Sequence=VSP_016192; The di-lysine motif confers endoplasmic reticulum localization for type I membrane proteins. Belongs to the nucleotide-sugar transporter family. SLC35B subfamily. UDP-galactose transmembrane transporter activity UDP-glucose transmembrane transporter activity endoplasmic reticulum endoplasmic reticulum membrane carbohydrate transport UDP-glucose transport membrane integral component of membrane transmembrane transporter activity integral component of Golgi membrane integral component of endoplasmic reticulum membrane transmembrane transport UDP-galactose transmembrane transport uc007lah.1 uc007lah.2 uc007lah.3 
ENSMUST00000021246.9 Snx11 ENSMUST00000021246.9 sorting nexin 11 (from RefSeq NM_028965.4) ENSMUST00000021246.1 ENSMUST00000021246.2 ENSMUST00000021246.3 ENSMUST00000021246.4 ENSMUST00000021246.5 ENSMUST00000021246.6 ENSMUST00000021246.7 ENSMUST00000021246.8 NM_028965 Q3V3A6 Q91WL6 SNX11_MOUSE uc007lci.1 uc007lci.2 uc007lci.3 uc007lci.4 Phosphoinositide-binding protein involved in protein sorting and membrane trafficking in endosomes. Monomer. Membrane ; Peripheral membrane protein ; Cytoplasmic side Endosome The PX domain mediates interaction with membranes enriched in phosphatidylinositol 3-phosphate. Belongs to the sorting nexin family. endosome intracellular protein transport lipid binding protein transport membrane vesicle organization phosphatidylinositol binding phosphatidylinositol phosphate binding uc007lci.1 uc007lci.2 uc007lci.3 uc007lci.4 
ENSMUST00000021249.11 Scrn2 ENSMUST00000021249.11 secernin 2 (from RefSeq NM_146027.2) ENSMUST00000021249.1 ENSMUST00000021249.10 ENSMUST00000021249.2 ENSMUST00000021249.3 ENSMUST00000021249.4 ENSMUST00000021249.5 ENSMUST00000021249.6 ENSMUST00000021249.7 ENSMUST00000021249.8 ENSMUST00000021249.9 NM_146027 Q8VCA8 SCRN2_MOUSE uc007ldk.1 uc007ldk.2 uc007ldk.3 uc007ldk.4 Belongs to the peptidase C69 family. Secernin subfamily. molecular_function proteolysis dipeptidase activity uc007ldk.1 uc007ldk.2 uc007ldk.3 uc007ldk.4 
ENSMUST00000021251.7 Lrrc46 ENSMUST00000021251.7 leucine rich repeat containing 46 (from RefSeq NM_027026.2) ENSMUST00000021251.1 ENSMUST00000021251.2 ENSMUST00000021251.3 ENSMUST00000021251.4 ENSMUST00000021251.5 ENSMUST00000021251.6 LRC46_MOUSE NM_027026 Q8R1Z3 Q9DAP0 uc007ldl.1 uc007ldl.2 uc007ldl.3 molecular_function uc007ldl.1 uc007ldl.2 uc007ldl.3 
ENSMUST00000021259.9 Gucy2e ENSMUST00000021259.9 guanylate cyclase 2e (from RefSeq NM_008192.3) B1ASX7 ENSMUST00000021259.1 ENSMUST00000021259.2 ENSMUST00000021259.3 ENSMUST00000021259.4 ENSMUST00000021259.5 ENSMUST00000021259.6 ENSMUST00000021259.7 ENSMUST00000021259.8 GUC2E_MOUSE Guc2e NM_008192 P52785 uc007jpn.1 uc007jpn.2 uc007jpn.3 Catalyzes the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors. Plays an essential role in phototransduction, by mediating cGMP replenishment (PubMed:21598940). May also participate in the trafficking of membrane-asociated proteins to the photoreceptor outer segment membrane (PubMed:17255100). Reaction=GTP = 3',5'-cyclic GMP + diphosphate; Xref=Rhea:RHEA:13665, ChEBI:CHEBI:33019, ChEBI:CHEBI:37565, ChEBI:CHEBI:57746; EC=4.6.1.2; Evidence=; Activated by GUCA1A when free calcium ions concentration is low, and inhibited by GUCA1A when free calcium ions concentration is high (PubMed:21598940). Negatively regulated by RD3; RD3 inhibits the basal and GUCA1A-stimulated guanylate cyclase activity (By similarity). Kinetic parameters: KM=0.64 mM for GTP (in presence of GUCA1A) ; KM=0.7 mM for GTP (in presence of GUCA1B) ; KM=1.55 nM for GTP ; Homodimer; requires homodimerization for guanylyl cyclase activity (By similarity). Interacts (via C-terminus) with RD3 (via C- terminus); promotes the exit of GUCY2E from the endoplasmic reticulum and its trafficking to the photoreceptor outer segments (By similarity). Interaction with RD3 negatively regulates GUCY2E guanylate cyclase activity (By similarity). Photoreceptor outer segment membrane ; Single-pass type I membrane protein Endoplasmic reticulum membrane ; Single-pass type I membrane protein There are 9 conserved cysteine residues in sensory guanylate cyclases, 6 in the extracellular domain, which may be involved in intra- or interchain disulfide bonds. Deficient mice exhibit abnormal retinal cone cell morphology, impaired cone and rod electrophysiology, and severe retinal cone cell degeneration. GUCY2E and GUCY2F double knockout mice does not show any photoresponse, their rods and cones degenerate and the intracellular transport of some phototransduction proteins is impaired. The gene name nomenclature of retinal guanylyl cyclase 1 is confusing; for mouse the gene name is GUCY2E whereas the gene name is GUCY2D for human and rat orthologs. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. nucleotide binding peptide receptor activity guanylate cyclase activity protein kinase activity ATP binding GTP binding plasma membrane cGMP biosynthetic process protein phosphorylation signal transduction receptor guanylyl cyclase signaling pathway visual perception cyclic nucleotide biosynthetic process membrane integral component of membrane lyase activity phosphorus-oxygen lyase activity natriuretic peptide receptor activity peptide hormone binding cGMP-mediated signaling intracellular signal transduction protein homodimerization activity protein heterodimerization activity response to stimulus uc007jpn.1 uc007jpn.2 uc007jpn.3 
ENSMUST00000021262.10 Alox8 ENSMUST00000021262.10 arachidonate 8-lipoxygenase (from RefSeq NM_009661.4) ALOX8_MOUSE Alox15b Alox8 B1ASX5 ENSMUST00000021262.1 ENSMUST00000021262.2 ENSMUST00000021262.3 ENSMUST00000021262.4 ENSMUST00000021262.5 ENSMUST00000021262.6 ENSMUST00000021262.7 ENSMUST00000021262.8 ENSMUST00000021262.9 NM_009661 O35936 uc007jpm.1 uc007jpm.2 uc007jpm.3 uc007jpm.4 This gene belongs to the lipoxygenase (LOX) gene family whose members encode enzymes that catalyze the addition of molecular oxygen to polyunsaturated fatty acids (PUFAs) to yield fatty acid hydroperoxides. The encoded enzyme preferentially metabolizes arachidonic acid to yield 8-hydroxyeicosatetraenoic acid (8-HETE), while metabolizing linoleic acid less efficiently. The gene may also function as a tumor suppressor. This gene is located in a cluster of related genes that spans approximately 75 kilobases on chromosome 11. [provided by RefSeq, Jan 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK028724.1, Y14696.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164136 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators (PubMed:9305900, PubMed:10965849, PubMed:10625675, PubMed:16143298, PubMed:16112079, PubMed:15558016, PubMed:27435673). Catalyzes the peroxidation of arachidonate and linoleate into (8S)-HPETE and (9S)- HPODE respectively (PubMed:9305900, PubMed:10965849, PubMed:10625675, PubMed:16143298, PubMed:16112079, PubMed:15558016, PubMed:27435673). In addition to generate (8S)-HPETE from free arachidonic acid (AA), may produce other HETE isomers from phospholipid-esterified polyunsaturated fatty acids and minor products derived from (8S)-HPETE itself that may include leukotriene A4 and 8,15-diHPETE (PubMed:16143298, PubMed:16112079, PubMed:27435673). With free arachidonate as substrate, has no detectable 15S-lipoxygenase activity and only displays a 8S- lipoxygenase activity (PubMed:10625675, PubMed:16112079, PubMed:16143298, PubMed:15558016, PubMed:10965849, PubMed:9305900). However may have a 15S-lipoxygenase activity with (8S)-HPETE to produce (8S,15S)-diHPETE and when oxidizes directly arachidonic acid esterified to membrane-bound phospholipids to produce a phospholipid-esterified 15-HpETE (PubMed:27435673, PubMed:16112079, PubMed:16143298). May also catalyze (15S)-HPETE peroxidation to produce 8,15-diHPETE (PubMed:16112079). May play a role in keratinocyte differentiation through activation of the peroxisome proliferator activated receptor signaling pathway (PubMed:10965849). Reaction=(9Z,12Z)-octadecadienoate + O2 = (9S)-hydroperoxy-(10E,12Z)- octadecadienoate; Xref=Rhea:RHEA:30291, ChEBI:CHEBI:15379, ChEBI:CHEBI:30245, ChEBI:CHEBI:60955; EC=1.13.11.58; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:30292; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = (8S)-hydroperoxy- (5Z,9E,11Z,14Z)-eicosatetraenoate; Xref=Rhea:RHEA:38675, ChEBI:CHEBI:15379, ChEBI:CHEBI:32395, ChEBI:CHEBI:75322; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38676; Evidence=; Reaction=(15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate + O2 = (8S,15S)-dihydroperoxy-(5Z,9E,11Z,13E)-eicosatetraenoate; Xref=Rhea:RHEA:50972, ChEBI:CHEBI:15379, ChEBI:CHEBI:57446, ChEBI:CHEBI:133899; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50973; Evidence=; Reaction=(8S)-hydroperoxy-(5Z,9E,11Z,14Z)-eicosatetraenoate + O2 = (8S,15S)-dihydroperoxy-(5Z,9E,11Z,13E)-eicosatetraenoate; Xref=Rhea:RHEA:50932, ChEBI:CHEBI:15379, ChEBI:CHEBI:75322, ChEBI:CHEBI:133899; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50933; Evidence=; Reaction=1-octadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero- 3-phosphocholine + O2 = 1-octadecanoyl-2-(15-hydroperoxy- 5Z,8Z,11Z,13E-eicosatetraenoyl)-sn-glycero-3-phosphocholine; Xref=Rhea:RHEA:63264, ChEBI:CHEBI:15379, ChEBI:CHEBI:74965, ChEBI:CHEBI:146283; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:63265; Evidence=; Reaction=a 1-acyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3- phospho-(1D-myo-inositol) + O2 = a 1-acyl-2-(15-hydroperoxy- 5Z,8Z,11Z,13E-eicosatetraenoyl)-sn-glycero-3-phospho-(1D-myo- inositol); Xref=Rhea:RHEA:63276, ChEBI:CHEBI:15379, ChEBI:CHEBI:75243, ChEBI:CHEBI:146285; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:63277; Evidence=; Reaction=a 1-acyl-2-(8Z,11Z,14Z-eicosatrienoyl)-sn-glycero-3-phospho- (1D-myo-inositol) + O2 = a 1-acyl-2-(15-hydroperoxy-8Z,11Z,13E- eicosatrienoyl)-sn-glycero-3-phospho-(1D-myo-inositol); Xref=Rhea:RHEA:63280, ChEBI:CHEBI:15379, ChEBI:CHEBI:146286, ChEBI:CHEBI:146287; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:63281; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = 9-hydroperoxy- (5Z,7E,11Z,14Z)-eicosatetraenoate; Xref=Rhea:RHEA:63288, ChEBI:CHEBI:15379, ChEBI:CHEBI:32395, ChEBI:CHEBI:146289; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:63289; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = 11-hydroperoxy- (5Z,8Z,12E,14Z)-eicosatetraenoate; Xref=Rhea:RHEA:63308, ChEBI:CHEBI:15379, ChEBI:CHEBI:32395, ChEBI:CHEBI:146291; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:63309; Evidence=; Reaction=(8Z,11Z,14Z)-eicosatrienoate + O2 = 15-hydroperoxy- (8Z,11Z,13E)-eicosatrienoate; Xref=Rhea:RHEA:63312, ChEBI:CHEBI:15379, ChEBI:CHEBI:71589, ChEBI:CHEBI:146292; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:63313; Evidence=; Name=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence= Note=Binds 1 Fe cation per subunit. Kinetic parameters: KM=1.2 uM for arachidonate (at pH 7.4 and 25 degrees Celsius) ; KM=2.1 uM for (8S)-HPETE (at pH 7.4 and 25 degrees Celsius) ; KM=5.7 uM for (8S)-HETE (at pH 7.4 and 25 degrees Celsius) ; KM=39 uM for (15S)-HPETE (at pH 7.4 and 25 degrees Celsius) ; KM=15 uM for (15S)-HETE (at pH 7.4 and 25 degrees Celsius) ; KM=2.86 uM for (5Z,8Z,11Z,14Z)-eicosatetraenoate ; KM=0.964 uM for (8Z,11Z,14Z)-eicosatrienoate ; Note=The highest catalytic efficiency is observed with arachidonate followed by (8S)-HPETE and(15S)-HPETE with similar efficiencies (PubMed:16112079). kcat is 0.22 sec(-1) for (5Z,8Z,11Z,14Z)- eicosatetraenoate. kcat is 0.045 sec(-1) for (8Z,11Z,14Z)- eicosatrienoate (PubMed:27435673). Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis. Cytoplasm, cytosol Membrane ; Peripheral membrane protein Note=Predominantly cytosolic; becomes enriched at membranes upon calcium binding. Expressed in epidermis and brain (PubMed:9305900, PubMed:9518531). No expression found in heart, spleen, liver, skeletal muscle, kidney or testis. By phorbol ester. The PLAT domain can bind calcium ions; this promotes association with membranes. Belongs to the lipoxygenase family. iron ion binding calcium ion binding cytoplasm cytosol cytoskeleton plasma membrane lipid metabolic process negative regulation of cell proliferation lipid binding positive regulation of macrophage derived foam cell differentiation membrane linoleate 13S-lipoxygenase activity oxidoreductase activity oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen arachidonic acid metabolic process lipoxygenase pathway extrinsic component of membrane positive regulation of peroxisome proliferator activated receptor signaling pathway arachidonate 8(S)-lipoxygenase activity linoleic acid metabolic process positive regulation of keratinocyte differentiation negative regulation of cell cycle negative regulation of growth metal ion binding arachidonate 15-lipoxygenase activity hepoxilin biosynthetic process dioxygenase activity oxidation-reduction process positive regulation of chemokine secretion uc007jpm.1 uc007jpm.2 uc007jpm.3 uc007jpm.4 
ENSMUST00000021268.9 Aloxe3 ENSMUST00000021268.9 arachidonate lipoxygenase 3 (from RefSeq NM_011786.2) Aloxe3 B1ASX3 ENSMUST00000021268.1 ENSMUST00000021268.2 ENSMUST00000021268.3 ENSMUST00000021268.4 ENSMUST00000021268.5 ENSMUST00000021268.6 ENSMUST00000021268.7 ENSMUST00000021268.8 LOXE3_MOUSE NM_011786 Q9WV07 uc007jpj.1 uc007jpj.2 uc007jpj.3 uc007jpj.4 Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced lipoxygenases activity (PubMed:17045234). The hydroperoxide isomerase activity catalyzes the isomerization of hydroperoxides, derived from arachidonic and linoleic acid by ALOX12B, into hepoxilin- type epoxyalcohols and ketones (PubMed:17045234). In presence of oxygen, oxygenates polyunsaturated fatty acids, including arachidonic acid, to produce fatty acid hydroperoxides. In the skin, acts downstream of ALOX12B on the linoleate moiety of esterified omega- hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins (By similarity). Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss (PubMed:22832496). In parallel, it may have a signaling function in barrier formation through the production of hepoxilins metabolites (By similarity). Also plays a role in adipocyte differentiation through hepoxilin A3 and hepoxilin B3 production which in turn activate PPARG (PubMed:20530198). Through the production of hepoxilins in the spinal cord, it may regulate inflammatory tactile allodynia (By similarity). Reaction=a hydroperoxyeicosatetraenoate = a hydroxy-epoxy- eicosatetraenoate; Xref=Rhea:RHEA:55560, ChEBI:CHEBI:59720, ChEBI:CHEBI:137328; EC=5.4.4.7; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55561; Evidence=; Reaction=(8S)-hydroperoxy-(5Z,9E,11Z,14Z)-eicosatetraenoate = (10R)- hydroxy-(8S,9S)-epoxy-(5Z,11Z,14Z)-eicosatrienoate; Xref=Rhea:RHEA:37931, ChEBI:CHEBI:75322, ChEBI:CHEBI:75327; EC=5.4.4.7; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37932; Evidence=; Reaction=(12R)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate = (8R)- hydroxy-(11R,12R)-epoxy-(5Z,9E,14Z)-eicosatrienoate; Xref=Rhea:RHEA:37939, ChEBI:CHEBI:75230, ChEBI:CHEBI:75232; EC=5.4.4.7; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37940; Evidence=; Reaction=(12S)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate = (8R)- hydroxy-(11S,12S)-epoxy-(5Z,9E,14Z)-eicosatrienoate; Xref=Rhea:RHEA:37955, ChEBI:CHEBI:57444, ChEBI:CHEBI:75233; EC=5.4.4.7; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37956; Evidence=; Reaction=(12S)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate = (10R)- hydroxy-(11S,12S)-epoxy-(5Z,8Z,14Z)-eicosatrienoate; Xref=Rhea:RHEA:37951, ChEBI:CHEBI:57444, ChEBI:CHEBI:75234; EC=5.4.4.7; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37952; Evidence=; Reaction=(15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate = (13R)- hydroxy-(14S,15S)-epoxy-(5Z,8Z,11Z)-eicosatrienoate; Xref=Rhea:RHEA:37959, ChEBI:CHEBI:57446, ChEBI:CHEBI:75235; EC=5.4.4.7; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37960; Evidence=; Reaction=(13S)-hydroperoxy-(9Z,11E)-octadecadienoate = 11-hydroxy- (12S,13S)-epoxy-(9Z)-octadecenoate; Xref=Rhea:RHEA:50212, ChEBI:CHEBI:57466, ChEBI:CHEBI:132064; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50213; Evidence=; Reaction=(5S)-hydroperoxy-(6E,8Z,11Z,14Z)-eicosatetraenoate = 7R- hydroxy-5S,6S-epoxy-(8Z,11Z,14Z)-eicosatrienoate; Xref=Rhea:RHEA:41251, ChEBI:CHEBI:57450, ChEBI:CHEBI:77919; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41252; Evidence=; Reaction=N-[omega-(9R)-hydroperoxy-(10E,12Z)-octadecadienoyloxy]acyl- beta-D-glucosyl-(1<->1)-octadecasphing-4E-enine = N-[omega-(9R,10R)- epoxy-(13R)-hydroxy-(11E)-octadecadienoyloxy]acyl-beta-D-glucosyl- (1<->1)-octadecasphing-4E-enine; Xref=Rhea:RHEA:40503, ChEBI:CHEBI:134624, ChEBI:CHEBI:134626; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40504; Evidence=; Reaction=N-acyl (9R)-hydroperoxy-(10E,12Z)-octadecadienoate octadecasphing-4E-enine = N-acyl-(9R,10R)-epoxy-(13R)-hydroxy-(11E)- octadecenoate (4E)-octadecasphin-4-enine; Xref=Rhea:RHEA:41243, ChEBI:CHEBI:77889, ChEBI:CHEBI:77891; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41244; Evidence=; Reaction=a hydroperoxyeicosatetraenoate = an oxoeicosatetraenoate + H2O; Xref=Rhea:RHEA:55556, ChEBI:CHEBI:15377, ChEBI:CHEBI:59720, ChEBI:CHEBI:131859; EC=4.2.1.152; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55557; Evidence=; Reaction=(8R)-hydroperoxy-(5Z,9E,11Z,14Z)-eicosatetraenoate = 8-oxo- (5Z,9E,11Z,14Z)-eicosatetraenoate + H2O; Xref=Rhea:RHEA:37935, ChEBI:CHEBI:15377, ChEBI:CHEBI:57447, ChEBI:CHEBI:75326; EC=4.2.1.152; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37936; Evidence=; Reaction=(8S)-hydroperoxy-(5Z,9E,11Z,14Z)-eicosatetraenoate = 8-oxo- (5Z,9E,11Z,14Z)-eicosatetraenoate + H2O; Xref=Rhea:RHEA:37927, ChEBI:CHEBI:15377, ChEBI:CHEBI:75322, ChEBI:CHEBI:75326; EC=4.2.1.152; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37928; Evidence=; Reaction=(12R)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate = 12-oxo- (5Z,8Z,10E,14Z)-eicosatetraenoate + H2O; Xref=Rhea:RHEA:37943, ChEBI:CHEBI:15377, ChEBI:CHEBI:75230, ChEBI:CHEBI:75231; EC=4.2.1.152; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37944; Evidence=; Reaction=(12S)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate = 12-oxo- (5Z,8Z,10E,14Z)-eicosatetraenoate + H2O; Xref=Rhea:RHEA:37947, ChEBI:CHEBI:15377, ChEBI:CHEBI:57444, ChEBI:CHEBI:75231; EC=4.2.1.152; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37948; Evidence=; Reaction=(15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate = 15-oxo- (5Z,8Z,11Z,13E)-eicosatetraenoate + H2O; Xref=Rhea:RHEA:48636, ChEBI:CHEBI:15377, ChEBI:CHEBI:57410, ChEBI:CHEBI:57446; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48637; Evidence=; Reaction=(13S)-hydroperoxy-(9Z,11E)-octadecadienoate = 13-oxo-(9Z,11E)- octadecadienoate + H2O; Xref=Rhea:RHEA:48716, ChEBI:CHEBI:15377, ChEBI:CHEBI:57466, ChEBI:CHEBI:90781; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48717; Evidence=; Name=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence=; Note=Binds 1 Fe cation per subunit. Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis. Lipid metabolism; sphingolipid metabolism. Cytoplasm Skin specific. Mice die within 5 to 12 hours after birth due to defective skin barrier function loosing around 2.5% of body weight per hour. Dehydratation through the skin is increased 4 folds. The outside- in barrier acquisition is also affected, the skin remaining permeable at 18.5 dpc while it is impermeable in wild-type mice. The stratum corneum is more tightly packed while other layers are unaffected. Hyperkeratosis of the skin is observed but it is not associated with defects in epidermal differentiation while the ceramide composition of the epidermis is altered with an absence of ester-bound ceramides. Belongs to the lipoxygenase family. catalytic activity iron ion binding cytoplasm lipid metabolic process fatty acid metabolic process sphingolipid metabolic process oxidoreductase activity oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen lyase activity isomerase activity sensory perception of pain arachidonic acid metabolic process lipoxygenase pathway peroxisome proliferator activated receptor signaling pathway linoleic acid metabolic process fat cell differentiation ceramide biosynthetic process metal ion binding hepoxilin A3 synthase activity hepoxilin biosynthetic process dioxygenase activity oxidation-reduction process establishment of skin barrier epidermis development bicellular tight junction assembly uc007jpj.1 uc007jpj.2 uc007jpj.3 uc007jpj.4 
ENSMUST00000021271.14 Per1 ENSMUST00000021271.14 period circadian clock 1, transcript variant 1 (from RefSeq NM_011065.5) B1ASX0 ENSMUST00000021271.1 ENSMUST00000021271.10 ENSMUST00000021271.11 ENSMUST00000021271.12 ENSMUST00000021271.13 ENSMUST00000021271.2 ENSMUST00000021271.3 ENSMUST00000021271.4 ENSMUST00000021271.5 ENSMUST00000021271.6 ENSMUST00000021271.7 ENSMUST00000021271.8 ENSMUST00000021271.9 NM_011065 O35973 PER1_MOUSE Per Rigui uc007jpg.1 uc007jpg.2 uc007jpg.3 uc007jpg.4 uc007jpg.5 This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by Clock/Arntl heterodimers but then represses this upregulation in a feedback loop using Per/Cry heterodimers to interact with Clock/Arntl. Polymorphisms in this gene may increase the risk of getting certain cancers. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2014]. Transcriptional repressor which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots 'circa' (about) and 'diem' (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for 'timegivers'). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, BMAL1, BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post- translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and BMAL1 or BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5'-CACGTG-3') within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK|NPAS2-BMAL1|BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress BMAL1 transcription, respectively. Regulates circadian target genes expression at post-transcriptional levels, but may not be required for the repression at transcriptional level. Controls PER2 protein decay. Represses CRY2 preventing its repression on CLOCK/BMAL1 target genes such as FXYD5 and SCNN1A in kidney and PPARA in liver. Besides its involvement in the maintenance of the circadian clock, has an important function in the regulation of several processes. Participates in the repression of glucocorticoid receptor NR3C1/GR- induced transcriptional activity by reducing the association of NR3C1/GR to glucocorticoid response elements (GREs) by BMAL1:CLOCK. Plays a role in the modulation of the neuroinflammatory state via the regulation of inflammatory mediators release, such as CCL2 and IL6. In spinal astrocytes, negatively regulates the MAPK14/p38 and MAPK8/JNK MAPK cascades as well as the subsequent activation of NFkappaB. Coordinately regulates the expression of multiple genes that are involved in the regulation of renal sodium reabsorption. Can act as gene expression activator in a gene and tissue specific manner, in kidney enhances WNK1 and SLC12A3 expression in collaboration with CLOCK. Modulates hair follicle cycling. Represses the CLOCK-BMAL1 induced transcription of BHLHE40/DEC1. Homodimer (PubMed:22331899). Component of the circadian core oscillator, which includes the CRY proteins, CLOCK or NPAS2, BMAL1 or BMAL2, CSNK1D and/or CSNK1E, TIMELESS, and the PER proteins (PubMed:11779462). Interacts directly with TIMELESS (PubMed:10231394, PubMed:9856465). Interacts directly with PER2, PER3, CRY1 and CRY2 (PubMed:10428031, PubMed:10848614, PubMed:11875063, PubMed:14701732, PubMed:16478995, PubMed:24154698). Interacts with BMAL1 and CLOCK (PubMed:16717091, PubMed:24154698). Interacts with GPRASP1 (By similarity). Interacts (phosphorylated) with BTRC and FBXW11; the interactions trigger proteasomal degradation (By similarity). Interacts with NONO and SFPQ (PubMed:22966205). Interacts with WDR5 (By similarity). Interacts with U2AF1L4 (Isoform 3) (PubMed:24837677). Interacts with USP2 (PubMed:23213472). Interacts with HNF4A (By similarity). O35973; P97784: Cry1; NbExp=3; IntAct=EBI-1266764, EBI-1266607; O35973; Q9R194: Cry2; NbExp=3; IntAct=EBI-1266764, EBI-1266619; O35973; Q9JMK2: Csnk1e; NbExp=2; IntAct=EBI-1266764, EBI-771709; O35973; O54943: Per2; NbExp=5; IntAct=EBI-1266764, EBI-1266779; O35973; Q9R1X4: Timeless; NbExp=3; IntAct=EBI-1266764, EBI-1793117; Nucleus. Cytoplasm. Note=Nucleocytoplasmic shuttling is effected by interaction with other circadian core oscillator proteins and/or by phosphorylation. Retention of PER1 in the cytoplasm occurs through PER1-PER2 heterodimer formation. Translocate to the nucleus after phosphorylation by CSNK1D or CSNK1E. Also translocated to the nucleus by CRY1 or CRY2. In brain, highest expression is observed in the SCN. Highly expressed in the pyramidal cell layer of the piriform cortex, the periventricular part of the caudate-putamen, many thalamic nuclei, and the granular layer of the cerebellar cortex. Weaker expression is detected in most area of the brain, including cortical and non cortical structures. Expression but no oscillations occurs in the glomerular and mitral cell layers of the olfactory bulb, the internal granular layer of the cerebellum, the cornu ammonis and dentate gyrus of the hippocampus, the cerebral and piriform cortices. Expressed in the renal cortex (at protein level). Also found in heart, brain, bladder, lumbar spinal cord, spleen, lung, liver, skeletal muscle and testis. Expressed in the suprachiasmatic nucleus (SCN) during late fetal and early neonatal life. In the suprachiasmatic nucleus (SCN), behaves like a day- type oscillator, with maximum expression during the light period. Oscillations are maintained under constant darkness and are responsive to changes of the light/dark cycles. There is a 4 hour time delay between PER1 and PER2 oscillations. The expression rhythms appear to originate from retina. In liver, peak levels at CT9. In the SCN, levels increase by light exposure during subjective night. Circadian oscillations also observed in skeletal muscle, bladder, lumbar spinal cord and liver but not in testis. Phosphorylated on serine residues by CSNK1D, CSNK1E and probably also by CSNK1G2. Phosphorylation by CSNK1D or CSNK1E promotes nuclear location of PER proteins as well as ubiquitination and subsequent degradation. May be dephosphorylated by PP1. Ubiquitinated; requires phosphorylation by CSNK1E and interaction with BTRC and FBXW11. Deubiquitinated by USP2. Animals show disrupted circadian behavior. The prolongation of light exposure produces larger phase delay of behavioral rhythm compared to wild-types. Double knocknouts for PER2 and PER1 show an abrupt loss of rhythmicity immediately upon transfer to exprosure to constant darkness. Animals have largely affected the water intake (polydipsia) and urine volume (polyuria). negative regulation of transcription from RNA polymerase II promoter transcription regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription corepressor binding regulation of sodium ion transport protein binding nucleus nucleoplasm cytoplasm cytosol circadian rhythm transcription factor binding response to light stimulus posttranscriptional regulation of gene expression kinase binding chromatin DNA binding ubiquitin protein ligase binding circadian regulation of gene expression regulation of hair cycle regulation of circadian rhythm negative regulation of I-kappaB kinase/NF-kappaB signaling entrainment of circadian clock by photoperiod histone H3 acetylation histone H4 acetylation negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter negative regulation of JNK cascade rhythmic process response to cAMP E-box binding histone H3 deacetylation circadian regulation of translation regulation of cytokine production involved in inflammatory response regulation of p38MAPK cascade negative regulation of glucocorticoid receptor signaling pathway uc007jpg.1 uc007jpg.2 uc007jpg.3 uc007jpg.4 uc007jpg.5 
ENSMUST00000021273.13 Vamp2 ENSMUST00000021273.13 vesicle-associated membrane protein 2 (from RefSeq NM_009497.3) ENSMUST00000021273.1 ENSMUST00000021273.10 ENSMUST00000021273.11 ENSMUST00000021273.12 ENSMUST00000021273.2 ENSMUST00000021273.3 ENSMUST00000021273.4 ENSMUST00000021273.5 ENSMUST00000021273.6 ENSMUST00000021273.7 ENSMUST00000021273.8 ENSMUST00000021273.9 NM_009497 Q8CHR4 Q8CHR4_MOUSE Vamp2 uc007jpe.1 uc007jpe.2 uc007jpe.3 Cell membrane Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Single-pass type IV membrane protein Membrane ; Single-pass type IV membrane protein Belongs to the synaptobrevin family. SNARE binding plasma membrane synaptic vesicle protein C-terminus binding voltage-gated potassium channel complex response to glucose protein transport membrane integral component of membrane synaptic vesicle exocytosis vesicle-mediated transport myosin binding syntaxin-1 binding regulation of exocytosis secretory granule integral component of synaptic vesicle membrane synaptic vesicle membrane SNARE complex SNARE complex assembly identical protein binding neuron projection intracellular organelle intracellular membrane-bounded organelle neuron projection terminus ion channel binding macromolecular complex binding calcium-dependent protein binding macromolecular complex assembly synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex synaptobrevin 2-SNAP-25-syntaxin-1a complex exocytic insertion of neurotransmitter receptor to postsynaptic membrane regulation of delayed rectifier potassium channel activity regulation of synaptic vesicle recycling uc007jpe.1 uc007jpe.2 uc007jpe.3 
ENSMUST00000021282.12 Pfas ENSMUST00000021282.12 phosphoribosylformylglycinamidine synthase (FGAR amidotransferase) (from RefSeq NM_001159519.1) A4FUJ6 ENSMUST00000021282.1 ENSMUST00000021282.10 ENSMUST00000021282.11 ENSMUST00000021282.2 ENSMUST00000021282.3 ENSMUST00000021282.4 ENSMUST00000021282.5 ENSMUST00000021282.6 ENSMUST00000021282.7 ENSMUST00000021282.8 ENSMUST00000021282.9 Kiaa0361 NM_001159519 PUR4_MOUSE Q5SUR0 Q6A080 uc011xws.1 uc011xws.2 uc011xws.3 Phosphoribosylformylglycinamidine synthase involved in the purines biosynthetic pathway. Catalyzes the ATP-dependent conversion of formylglycinamide ribonucleotide (FGAR) and glutamine to yield formylglycinamidine ribonucleotide (FGAM) and glutamate (By similarity). Reaction=ATP + H2O + L-glutamine + N(2)-formyl-N(1)-(5-phospho-beta-D- ribosyl)glycinamide = 2-formamido-N(1)-(5-O-phospho-beta-D- ribosyl)acetamidine + ADP + H(+) + L-glutamate + phosphate; Xref=Rhea:RHEA:17129, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58359, ChEBI:CHEBI:147286, ChEBI:CHEBI:147287, ChEBI:CHEBI:456216; EC=6.3.5.3; Purine metabolism; IMP biosynthesis via de novo pathway; 5- amino-1-(5-phospho-D-ribosyl)imidazole from N(2)-formyl-N(1)-(5- phospho-D-ribosyl)glycinamide: step 1/2. Cytoplasm In the N-terminal section; belongs to the FGAMS family. nucleotide binding phosphoribosylformylglycinamidine synthase activity ATP binding cytoplasm purine nucleotide biosynthetic process 'de novo' IMP biosynthetic process glutamine metabolic process ribonucleoside monophosphate biosynthetic process ligase activity response to drug metal ion binding anterior head development uc011xws.1 uc011xws.2 uc011xws.3 
ENSMUST00000021283.8 Pik3r5 ENSMUST00000021283.8 phosphoinositide-3-kinase regulatory subunit 5 (from RefSeq NM_177320.2) ENSMUST00000021283.1 ENSMUST00000021283.2 ENSMUST00000021283.3 ENSMUST00000021283.4 ENSMUST00000021283.5 ENSMUST00000021283.6 ENSMUST00000021283.7 NM_177320 PI3R5_MOUSE Q3TU01 Q3UDZ2 Q5SW28 Q8C215 Q8CGQ7 uc007jno.1 uc007jno.2 uc007jno.3 Regulatory subunit of the PI3K gamma complex. Required for recruitment of the catalytic subunit to the plasma membrane via interaction with beta-gamma G protein dimers. Required for G protein- mediated activation of PIK3CG (By similarity). Greatly activated by G gamma proteins. Heterodimer of a catalytic subunit (PIK3CG/p120) and a regulatory (PIK3R5a/p101) subunit. Interacts with beta-gamma G protein dimers (By similarity). Nucleus Cytoplasm Cell membrane ; Peripheral membrane protein Note=Predominantly localized in the nucleus in absence of PIK3CG/p120. Colocalizes with PIK3CG/p120 in the cytoplasm. Translocated to the plasma membrane in a beta-gamma G protein-dependent manner. The heterodimerization region allows the binding to the catalytic subunit. nucleus cytoplasm microtubule organizing center cytosol plasma membrane phosphatidylinositol 3-kinase complex phosphatidylinositol 3-kinase complex, class IB G-protein coupled receptor signaling pathway phosphatidylinositol 3-kinase signaling membrane G-protein beta/gamma-subunit complex binding positive regulation of MAP kinase activity regulation of phosphatidylinositol 3-kinase activity 1-phosphatidylinositol-3-kinase regulator activity positive regulation of protein kinase B signaling uc007jno.1 uc007jno.2 uc007jno.3 
ENSMUST00000021285.14 Stx8 ENSMUST00000021285.14 syntaxin 8, transcript variant 1 (from RefSeq NM_018768.3) ENSMUST00000021285.1 ENSMUST00000021285.10 ENSMUST00000021285.11 ENSMUST00000021285.12 ENSMUST00000021285.13 ENSMUST00000021285.2 ENSMUST00000021285.3 ENSMUST00000021285.4 ENSMUST00000021285.5 ENSMUST00000021285.6 ENSMUST00000021285.7 ENSMUST00000021285.8 ENSMUST00000021285.9 NM_018768 O88983 STX8_MOUSE uc007jnj.1 uc007jnj.2 uc007jnj.3 Vesicle trafficking protein that functions in the early secretory pathway, possibly by mediating retrograde transport from cis- Golgi membranes to the ER. Forms a SNARE complex with STX7, VTI1B and VAMP8 which functions in the homotypic fusion of late endosomes. Part of the SNARE core complex containing STX7, VAMP8 and VTI1B. Interacts with VAMP8 (By similarity). Interacts with HECTD3. Interacts with TPC1 (PubMed:28855648). Membrane ; Single-pass type IV membrane protein Note=Preferentially associated with the early endosome. To a lesser extent, also present in late endosome, the plasma membrane and coated pits (By similarity). Ubiquitinated by HECTD3. Belongs to the syntaxin family. SNARE binding SNAP receptor activity lysosomal membrane endosome early endosome late endosome trans-Golgi network cytosol intracellular protein transport vesicle fusion endosome to lysosome transport endomembrane system membrane integral component of membrane vesicle-mediated transport chloride channel inhibitor activity syntaxin binding SNARE complex ubiquitin protein ligase binding late endosome membrane vesicle early endosome to late endosome transport phagocytic vesicle vesicle docking perinuclear region of cytoplasm recycling endosome cellular response to interferon-gamma regulation of protein localization to plasma membrane uc007jnj.1 uc007jnj.2 uc007jnj.3 
ENSMUST00000021287.12 Cfap52 ENSMUST00000021287.12 cilia and flagella associated protein 52 (from RefSeq NM_027963.2) CFA52_MOUSE Cfap52 ENSMUST00000021287.1 ENSMUST00000021287.10 ENSMUST00000021287.11 ENSMUST00000021287.2 ENSMUST00000021287.3 ENSMUST00000021287.4 ENSMUST00000021287.5 ENSMUST00000021287.6 ENSMUST00000021287.7 ENSMUST00000021287.8 ENSMUST00000021287.9 NM_027963 Q5F200 Q5F201 Q9D432 Q9DA68 Wdr16 uc007jnf.1 uc007jnf.2 uc007jnf.3 Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme (By similarity). Important for proper ciliary and flagellar beating. May act in cooperation with CFAP45 and axonemal dynein subunit DNAH11. May play a role in cell growth and/or survival (By similarity). Interacts with BRCA2 (By similarity). Interacts with the CCT chaperonin complex (By similarity). Interacts with HSP70 (By similarity). Interacts with AK8 (By similarity). Interacts with CFAP45 (By similarity). Interacts with DNAI1 (By similarity). Interacts with IQDC (By similarity). Cytoplasm Cell projection, cilium, flagellum Cytoplasm, cytoskeleton, cilium axoneme Note=Located in the proximal region of respiratory cilia. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5F201-1; Sequence=Displayed; Name=2; IsoId=Q5F201-2; Sequence=VSP_018069, VSP_018070; Belongs to the CFAP52 family. molecular_function cytoplasm cilium motile cilium cell projection uc007jnf.1 uc007jnf.2 uc007jnf.3 
ENSMUST00000021288.10 Usp43 ENSMUST00000021288.10 ubiquitin specific peptidase 43, transcript variant 1 (from RefSeq NM_173754.4) ENSMUST00000021288.1 ENSMUST00000021288.2 ENSMUST00000021288.3 ENSMUST00000021288.4 ENSMUST00000021288.5 ENSMUST00000021288.6 ENSMUST00000021288.7 ENSMUST00000021288.8 ENSMUST00000021288.9 NM_173754 Q8BUM9 Q8VDP5 UBP43_MOUSE uc007jne.1 uc007jne.2 May recognize and hydrolyze the peptide bond at the C- terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins (By similarity). Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76- residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BUM9-1; Sequence=Displayed; Name=2; IsoId=Q8BUM9-2; Sequence=VSP_020469, VSP_020470; Belongs to the peptidase C19 family. Sequence=AAH21474.1; Type=Erroneous initiation; Evidence=; Sequence=BAC38837.1; Type=Erroneous initiation; Evidence=; proteolysis ubiquitin-dependent protein catabolic process peptidase activity cysteine-type peptidase activity protein deubiquitination hydrolase activity thiol-dependent ubiquitinyl hydrolase activity uc007jne.1 uc007jne.2 
ENSMUST00000021290.2 Rcvrn ENSMUST00000021290.2 recoverin (from RefSeq NM_009038.2) ENSMUST00000021290.1 NM_009038 Q2TB46 Q2TB46_MOUSE Rcvrn uc007jmz.1 uc007jmz.2 uc007jmz.3 uc007jmz.4 Belongs to the recoverin family. calcium ion binding visual perception dendrite uc007jmz.1 uc007jmz.2 uc007jmz.3 uc007jmz.4 
ENSMUST00000021296.7 Tmem101 ENSMUST00000021296.7 transmembrane protein 101 (from RefSeq NM_029649.2) ENSMUST00000021296.1 ENSMUST00000021296.2 ENSMUST00000021296.3 ENSMUST00000021296.4 ENSMUST00000021296.5 ENSMUST00000021296.6 NM_029649 Q91VP7 Q9CZW0 TM101_MOUSE uc007lqr.1 uc007lqr.2 uc007lqr.3 uc007lqr.4 May activate NF-kappa-B signaling pathways. Membrane ; Multi-pass membrane protein cellular_component membrane integral component of membrane uc007lqr.1 uc007lqr.2 uc007lqr.3 uc007lqr.4 
ENSMUST00000021297.6 Lsm12 ENSMUST00000021297.6 LSM12 homolog (from RefSeq NM_172947.3) A2AWS3 ENSMUST00000021297.1 ENSMUST00000021297.2 ENSMUST00000021297.3 ENSMUST00000021297.4 ENSMUST00000021297.5 LSM12_MOUSE NM_172947 Q9D0R8 uc007lqs.1 uc007lqs.2 uc007lqs.3 Nicotinic acid adenine dinucleotide phosphate (NAADP) binding protein. Confers NAADP sensitivity to the two pore channel complex (TPCs) by acting as TPC accessory protein necessary for NAADP-evoked Ca(2+) release. Found in a complex with LSM12, TPCN1 and TPCN2. Interacts with TPCN2. Cytoplasm Note=Colocalizes with TPCN2. Belongs to the LSM12 family. Sequence=CAM16077.1; Type=Erroneous gene model prediction; Evidence=; Sequence=CAM25069.1; Type=Erroneous gene model prediction; Evidence=; molecular_function cellular_component uc007lqs.1 uc007lqs.2 uc007lqs.3 
ENSMUST00000021307.10 Ccdc103 ENSMUST00000021307.10 coiled-coil domain containing 103, transcript variant 1 (from RefSeq NM_028492.3) A2AH86 CC103_MOUSE ENSMUST00000021307.1 ENSMUST00000021307.2 ENSMUST00000021307.3 ENSMUST00000021307.4 ENSMUST00000021307.5 ENSMUST00000021307.6 ENSMUST00000021307.7 ENSMUST00000021307.8 ENSMUST00000021307.9 NM_028492 Q9D9P2 uc007lst.1 uc007lst.2 uc007lst.3 Dynein-attachment factor required for cilia motility. Homodimer. Cytoplasm Cell projection, cilium, flagellum Belongs to the CCDC103/PR46b family. heart looping cilium movement epithelial cilium movement extracellular region cytoplasm cilium determination of left/right symmetry cell projection organization motile cilium outer dynein arm outer dynein arm assembly inner dynein arm assembly protein homodimerization activity cell projection axonemal dynein complex assembly determination of digestive tract left/right asymmetry uc007lst.1 uc007lst.2 uc007lst.3 
ENSMUST00000021311.10 Kif18b ENSMUST00000021311.10 kinesin family member 18B (from RefSeq NM_197959.2) ENSMUST00000021311.1 ENSMUST00000021311.2 ENSMUST00000021311.3 ENSMUST00000021311.4 ENSMUST00000021311.5 ENSMUST00000021311.6 ENSMUST00000021311.7 ENSMUST00000021311.8 ENSMUST00000021311.9 KI18B_MOUSE NM_197959 Q3U0T0 Q6PFD6 Q80V20 uc007lsy.1 uc007lsy.2 uc007lsy.3 uc007lsy.4 uc007lsy.5 In complex with KIF2C, constitutes the major microtubule plus-end depolymerizing activity in mitotic cells. Its major role may be to transport KIF2C and/or MAPRE1 along microtubules (By similarity). Interacts with MAPRE1; this interaction is required for efficient accumulation at microtubule plus ends. Interacts with KIF2C at microtubule tips; this interaction increases the affinity of both partners for microtubule plus ends and is required for robust microtubule depolymerization. KIF2C phosphorylation by AURKA or AURKB strongly reduces KIF18B-binding. Nucleus Cytoplasm Cytoplasm, cytoskeleton Note=Present predominantly in the nucleus and to a lesser extent in the cytoplasm of interphase cells. During mitosis, found to be closely associated with astral microtubule plus ends emanating from the spindle pole during prometaphase and metaphase (By similarity). Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. mitotic sister chromatid segregation nucleotide binding astral microtubule mitotic cell cycle motor activity microtubule motor activity ATP binding nucleus cytoplasm cytosol cytoskeleton kinesin complex microtubule microtubule-based movement microtubule depolymerization cell cycle microtubule binding ATP-dependent microtubule motor activity, plus-end-directed nuclear body ATPase activity kinesin binding microtubule plus-end cell division regulation of cell division mitotic spindle astral microtubule mitotic spindle midzone microtubule end uc007lsy.1 uc007lsy.2 uc007lsy.3 uc007lsy.4 uc007lsy.5 
ENSMUST00000021313.9 Dcakd ENSMUST00000021313.9 dephospho-CoA kinase domain containing, transcript variant 1 (from RefSeq NM_026551.4) DCAKD_MOUSE ENSMUST00000021313.1 ENSMUST00000021313.2 ENSMUST00000021313.3 ENSMUST00000021313.4 ENSMUST00000021313.5 ENSMUST00000021313.6 ENSMUST00000021313.7 ENSMUST00000021313.8 NM_026551 Q8BHC4 uc007ltc.1 uc007ltc.2 uc007ltc.3 Belongs to the CoaE family. nucleotide binding dephospho-CoA kinase activity ATP binding mitochondrion coenzyme A biosynthetic process phosphorylation uc007ltc.1 uc007ltc.2 uc007ltc.3 
ENSMUST00000021314.8 Nmt1 ENSMUST00000021314.8 N-myristoyltransferase 1 (from RefSeq NM_008707.4) ENSMUST00000021314.1 ENSMUST00000021314.2 ENSMUST00000021314.3 ENSMUST00000021314.4 ENSMUST00000021314.5 ENSMUST00000021314.6 ENSMUST00000021314.7 NM_008707 Nmt1 Q3UJC3 Q3UJC3_MOUSE uc007ltd.1 uc007ltd.2 uc007ltd.3 Adds a myristoyl group to the N-terminal glycine residue of certain cellular proteins. Reaction=N-terminal glycyl-L-lysyl-[protein] + tetradecanoyl-CoA = CoA + H(+) + N-terminal glycyl-(N(6)-tetradecanoyl)-L-lysyl-[protein]; Xref=Rhea:RHEA:70671, Rhea:RHEA-COMP:17947, Rhea:RHEA-COMP:17948, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57385, ChEBI:CHEBI:189855, ChEBI:CHEBI:189856; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70672; Evidence=; Reaction=N-terminal glycyl-[protein] + tetradecanoyl-CoA = CoA + H(+) + N-tetradecanoylglycyl-[protein]; Xref=Rhea:RHEA:15521, Rhea:RHEA- COMP:12666, Rhea:RHEA-COMP:12667, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57385, ChEBI:CHEBI:64723, ChEBI:CHEBI:133050; EC=2.3.1.97; Evidence= Cytoplasm, cytosol Membrane ; Peripheral membrane protein Belongs to the NMT family. glycylpeptide N-tetradecanoyltransferase activity cytoplasm cytosol plasma membrane N-terminal protein myristoylation transferase activity transferase activity, transferring acyl groups N-terminal peptidyl-glycine N-myristoylation myristoyltransferase activity extrinsic component of membrane cellular ketone metabolic process uc007ltd.1 uc007ltd.2 uc007ltd.3 
ENSMUST00000021323.11 Efcab15 ENSMUST00000021323.11 EF-hand calcium binding domain 15 (from RefSeq NM_001254724.2) 1700023F06Rik A2AB62 A2AB62_MOUSE ENSMUST00000021323.1 ENSMUST00000021323.10 ENSMUST00000021323.2 ENSMUST00000021323.3 ENSMUST00000021323.4 ENSMUST00000021323.5 ENSMUST00000021323.6 ENSMUST00000021323.7 ENSMUST00000021323.8 ENSMUST00000021323.9 Efcab15 NM_001254724 uc029roi.1 uc029roi.2 uc029roi.3 molecular_function calcium ion binding cellular_component biological_process uc029roi.1 uc029roi.2 uc029roi.3 
ENSMUST00000021324.3 Map3k14 ENSMUST00000021324.3 mitogen-activated protein kinase kinase kinase 14 (from RefSeq NM_016896.3) ENSMUST00000021324.1 ENSMUST00000021324.2 M3K14_MOUSE Map3k14 NM_016896 Nik Q9WUL6 uc007lua.1 uc007lua.2 uc007lua.3 Lymphotoxin beta-activated kinase which seems to be exclusively involved in the activation of NF-kappa-B and its transcriptional activity. Promotes proteolytic processing of NFKB2/P100, which leads to activation of NF-kappa-B via the non- canonical pathway. Could act in a receptor-selective manner. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.25; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.25; Interacts with TRAF2, TRAF3, TRAF5, TRAF6, IKKA and NF-kappa- B2/P100. Interacts with PELI3. Interacts with NIBP; the interaction is direct. Interacts with ARRB1 and ARRB2. Interacts with GRB10. Interacts with ZFP91 (By similarity). Interacts with NLRP12; this interaction promotes proteasomal degradation of MAP3K14. Directly interacts with DDX3X (By similarity). Interacts (via C-terminus and kinase domain) with PPPC3A (via N-terminus) and PPP3CB (PubMed:26029823). Cytoplasm. Phosphorylation at Thr-561 is required to activates its kinase activity and 'Lys-63'-linked polyubiquitination. Phosphorylated by CHUK/IKKA leading to MAP3K14 destabilization (By similarity). Autophosphorylated. Ubiquitinated. Undergoes both 'Lys-48'- and 'Lys-63'-linked polyubiquitination. 'Lys-48'-linked polyubiquitination leads to its degradation by the proteasome, while 'Lys-63'-linked polyubiquitination stabilizes and activates it (By similarity). Mice display the alymphoplasia phenotype (aly), which is characterized by systemic absence of lymph nodes and Peyer patches and disorganized splenic and thymic structures with immunodeficiency. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase kinase subfamily. MAPK cascade nucleotide binding activation of MAPKK activity fibrillar center protein kinase activity protein serine/threonine kinase activity NF-kappaB-inducing kinase activity MAP kinase kinase kinase activity protein binding ATP binding nucleus cytoplasm cytosol protein phosphorylation immune response I-kappaB kinase/NF-kappaB signaling kinase activity phosphorylation transferase activity signal transduction by protein phosphorylation activation of protein kinase activity NIK/NF-kappaB signaling positive regulation of I-kappaB kinase/NF-kappaB signaling intracellular membrane-bounded organelle defense response to virus cellular response to mechanical stimulus uc007lua.1 uc007lua.2 uc007lua.3 
ENSMUST00000021328.8 Lyzl6 ENSMUST00000021328.8 lysozyme-like 6, transcript variant 1 (from RefSeq NM_027083.3) ENSMUST00000021328.1 ENSMUST00000021328.2 ENSMUST00000021328.3 ENSMUST00000021328.4 ENSMUST00000021328.5 ENSMUST00000021328.6 ENSMUST00000021328.7 LYZL6_MOUSE Lyc1 NM_027083 Q9DA11 uc007lvl.1 uc007lvl.2 uc007lvl.3 uc007lvl.4 May be involved sperm-egg plasma membrane adhesion and fusion during fertilization. Exhibits bacteriolytic activity in vitro against Micrococcus luteus and Staphylococcus aureus. Shows weak bacteriolytic activity against Gram-positive bacteria at physiological pH. Bacteriolytic activity is pH-dependent, with a maximum at around pH 5.6 (By similarity). Reaction=Hydrolysis of (1->4)-beta-linkages between N-acetylmuramic acid and N-acetyl-D-glucosamine residues in a peptidoglycan and between N-acetyl-D-glucosamine residues in chitodextrins.; EC=3.2.1.17; Monomer. Secreted Cell surface Cell projection, cilium, flagellum Note=Detected in the postacrosomal area and midpiece of mature spermatozoa (PubMed:24013621). Expressed strongly in testis and epididymis and weakly in seminal vesicle, vas deferens, kidney and spleen (PubMed:24013621). Highly expressed in primary spermatocytes and round spermatids (at protein level) (PubMed:24013621). In testis expressed from day 21 during postnatal development (PubMed:24013621). In the epidydimis, first detected at day 28 and high expression is maintained until day 35. Thereafter, level declines gradually (PubMed:24013621). Belongs to the glycosyl hydrolase 22 family. lysozyme activity catalytic activity extracellular region cilium single fertilization fusion of sperm to egg plasma membrane metabolic process fertilization cell surface hydrolase activity hydrolase activity, acting on glycosyl bonds cytolysis motile cilium defense response to bacterium cell projection defense response to Gram-negative bacterium defense response to Gram-positive bacterium sperm midpiece sperm plasma membrane uc007lvl.1 uc007lvl.2 uc007lvl.3 uc007lvl.4 
ENSMUST00000021329.14 Gosr2 ENSMUST00000021329.14 golgi SNAP receptor complex member 2, transcript variant 1 (from RefSeq NM_019650.4) ENSMUST00000021329.1 ENSMUST00000021329.10 ENSMUST00000021329.11 ENSMUST00000021329.12 ENSMUST00000021329.13 ENSMUST00000021329.2 ENSMUST00000021329.3 ENSMUST00000021329.4 ENSMUST00000021329.5 ENSMUST00000021329.6 ENSMUST00000021329.7 ENSMUST00000021329.8 ENSMUST00000021329.9 GOSR2_MOUSE Gs27 NM_019650 O35166 Q3UDN0 Q9CR77 uc007lvo.1 uc007lvo.2 uc007lvo.3 uc007lvo.4 Involved in transport of proteins from the cis/medial-Golgi to the trans-Golgi network. Part of a unique SNARE complex composed of the Golgi SNAREs GOSR1, STX5 and YKT6. Golgi apparatus, cis-Golgi network membrane ; Single-pass type IV membrane protein Golgi apparatus membrane Endoplasmic reticulum membrane Note=Concentrated most in the intermediate compartment/cis-Golgi network and the cis-Golgi cisternae 1 and 2. Greatly reduced in concentration at the trans end of the Golgi apparatus. Belongs to the GOSR2 family. Golgi membrane SNARE binding SNAP receptor activity endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus cytosol protein targeting to vacuole ER to Golgi vesicle-mediated transport intra-Golgi vesicle-mediated transport Golgi to vacuole transport ER to Golgi transport vesicle membrane protein transport membrane integral component of membrane vesicle-mediated transport SNARE complex late endosome membrane retrograde transport, endosome to Golgi vesicle fusion with Golgi apparatus uc007lvo.1 uc007lvo.2 uc007lvo.3 uc007lvo.4 
ENSMUST00000021332.10 Fkbp3 ENSMUST00000021332.10 FK506 binding protein 3 (from RefSeq NM_013902.4) ENSMUST00000021332.1 ENSMUST00000021332.2 ENSMUST00000021332.3 ENSMUST00000021332.4 ENSMUST00000021332.5 ENSMUST00000021332.6 ENSMUST00000021332.7 ENSMUST00000021332.8 ENSMUST00000021332.9 FKBP3_MOUSE Fkbp25 NM_013902 Q62446 Q9WTJ7 uc007nrb.1 uc007nrb.2 uc007nrb.3 FK506- and rapamycin-binding proteins (FKBPs) constitute a family of receptors for the two immunosuppressants which inhibit T-cell proliferation by arresting two distinct cytoplasmic signal transmission pathways. PPIases accelerate the folding of proteins (By similarity). Reaction=[protein]-peptidylproline (omega=180) = [protein]- peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA- COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8; Inhibited preferentially by rapamycin over FK506. Q62446; Q00987: MDM2; Xeno; NbExp=4; IntAct=EBI-8313562, EBI-389668; Nucleus Belongs to the FKBP-type PPIase family. protein peptidyl-prolyl isomerization peptidyl-prolyl cis-trans isomerase activity protein binding nucleus isomerase activity uc007nrb.1 uc007nrb.2 uc007nrb.3 
ENSMUST00000021335.7 Scfd1 ENSMUST00000021335.7 Sec1 family domain containing 1, transcript variant 3 (from RefSeq NR_157117.1) ENSMUST00000021335.1 ENSMUST00000021335.2 ENSMUST00000021335.3 ENSMUST00000021335.4 ENSMUST00000021335.5 ENSMUST00000021335.6 NR_157117 Q8BRF7 Q8BRZ2 Q8K179 Q9CXR8 SCFD1_MOUSE Stxbp1l2 uc007nmq.1 uc007nmq.2 uc007nmq.3 uc007nmq.4 Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with COG4. Involved in vesicular transport between the endoplasmic reticulum and the Golgi (By similarity). Interacts with STX17. Interacts with STX5A. Interacts with the COG complex via COG4 (By similarity). Cytoplasm Endoplasmic reticulum membrane ; Peripheral membrane protein Golgi apparatus, Golgi stack membrane ; Peripheral membrane protein Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8BRF7-1; Sequence=Displayed; Name=2; IsoId=Q8BRF7-2; Sequence=VSP_011310, VSP_011311; Name=3; IsoId=Q8BRF7-3; Sequence=VSP_011312, VSP_011313; Belongs to the STXBP/unc-18/SEC1 family. Sequence=AAH27793.1; Type=Erroneous initiation; Evidence=; cell morphogenesis response to hypoxia cytoplasm endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus Golgi-associated vesicle cis-Golgi network plasma membrane retrograde vesicle-mediated transport, Golgi to ER post-Golgi vesicle-mediated transport vesicle docking involved in exocytosis response to toxic substance protein transport membrane vesicle-mediated transport syntaxin binding Golgi cisterna membrane macromolecular complex binding protein N-terminus binding regulation of protein transport regulation of ER to Golgi vesicle-mediated transport toxin transport negative regulation of autophagosome assembly uc007nmq.1 uc007nmq.2 uc007nmq.3 uc007nmq.4 
ENSMUST00000021338.10 Ap4s1 ENSMUST00000021338.10 adaptor-related protein complex AP-4, sigma 1, transcript variant 2 (from RefSeq NM_021710.4) AP4S1_MOUSE Ap4s1 ENSMUST00000021338.1 ENSMUST00000021338.2 ENSMUST00000021338.3 ENSMUST00000021338.4 ENSMUST00000021338.5 ENSMUST00000021338.6 ENSMUST00000021338.7 ENSMUST00000021338.8 ENSMUST00000021338.9 NM_021710 Q9WVL1 uc007nmv.1 uc007nmv.2 uc007nmv.3 uc007nmv.4 This gene encodes the sigma subunit of the adaptor-related protein complex 4 which mediates intracellular membrane trafficking along the endocytic and secretory transport pathways. This complex contains four subunits, beta, epsilon, mu, and sigma, and belongs to a family of five adapter protein complexes, including three clathrin-associated complexes and two non clathrin-associated complexes, that localize to different intracellular compartments and mediate membrane vesicle trafficking using distinct pathways. In humans, loss-of-function mutations in this gene have been linked to specific adapter complex 4 deficiency disorders including hereditary spastic paraplegia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]. Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways. AP-4 forms a non clathrin- associated coat on vesicles departing the trans-Golgi network (TGN) and may be involved in the targeting of proteins from the trans-Golgi network (TGN) to the endosomal-lysosomal system. It is also involved in protein sorting to the basolateral membrane in epithelial cells and the proper asymmetric localization of somatodendritic proteins in neurons. AP-4 is involved in the recognition and binding of tyrosine-based sorting signals found in the cytoplasmic part of cargos, but may also recognize other types of sorting signal. Adaptor protein complex 4 (AP-4) is a heterotetramer composed of two large adaptins (epsilon-type subunit AP4E1 and beta-type subunit AP4B1), a medium adaptin (mu-type subunit AP4M1) and a small adaptin (sigma-type AP4S1). Golgi apparatus, trans-Golgi network membrane ; Peripheral membrane protein Belongs to the adaptor complexes small subunit family. Golgi apparatus trans-Golgi network intracellular protein transport protein transport membrane vesicle-mediated transport AP-4 adaptor complex intracellular membrane-bounded organelle uc007nmv.1 uc007nmv.2 uc007nmv.3 uc007nmv.4 
ENSMUST00000021339.8 Dtd2 ENSMUST00000021339.8 D-tyrosyl-tRNA deacylase 2, transcript variant 2 (from RefSeq NM_029545.3) DTD2_MOUSE ENSMUST00000021339.1 ENSMUST00000021339.2 ENSMUST00000021339.3 ENSMUST00000021339.4 ENSMUST00000021339.5 ENSMUST00000021339.6 ENSMUST00000021339.7 NM_029545 Q8BHA3 Q9D363 Q9D4Q5 uc007nne.1 uc007nne.2 Deacylates mischarged D-aminoacyl-tRNAs. Also deacylates mischarged glycyl-tRNA(Ala), protecting cells against glycine mischarging by AlaRS. Probably acts by rejecting L-amino acids from its binding site rather than specific recognition of D-amino acids. Catalyzes the hydrolysis of D-tyrosyl-tRNA(Tyr), has no activity on correctly charged L-tyrosyl-tRNA(Tyr). By recycling D-aminoacyl-tRNA to D-amino acids and free tRNA molecules, this enzyme counteracts the toxicity associated with the formation of D-aminoacyl-tRNA entities in vivo and helps enforce protein L-homochirality. In contrast to DTD1, deacylates L-Ala mischarged on tRNA(Thr)(G4.U69) by alanine-tRNA ligase AARS. Can deacylate L-Ala due to a relaxed specificity for substrate chirality caused by the trans conformation of the Gly-Pro motif in the active site. Also hydrolyzes correctly charged, achiral, glycyl- tRNA(Gly) in vitro, although in vivo EEF1A1/EF-Tu may protect cognate achiral glycyl-tRNA(Gly) from DTD2-mediated deacetylation. Reaction=a D-aminoacyl-tRNA + H2O = a D-alpha-amino acid + a tRNA + H(+); Xref=Rhea:RHEA:13953, Rhea:RHEA-COMP:10123, Rhea:RHEA- COMP:10124, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:59871, ChEBI:CHEBI:78442, ChEBI:CHEBI:79333; EC=3.1.1.96; Evidence=; Reaction=glycyl-tRNA(Ala) + H2O = glycine + H(+) + tRNA(Ala); Xref=Rhea:RHEA:53744, Rhea:RHEA-COMP:9657, Rhea:RHEA-COMP:13640, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57305, ChEBI:CHEBI:78442, ChEBI:CHEBI:78522; EC=3.1.1.96; Evidence=; Reaction=D-tyrosyl-tRNA(Tyr) + H2O = D-tyrosine + tRNA(Tyr); Xref=Rhea:RHEA:25347, Rhea:RHEA-COMP:9707, Rhea:RHEA-COMP:9872, ChEBI:CHEBI:15377, ChEBI:CHEBI:58570, ChEBI:CHEBI:78442, ChEBI:CHEBI:78723; Evidence=; Reaction=H2O + L-alanyl-tRNA(Thr) = H(+) + L-alanine + tRNA(Thr); Xref=Rhea:RHEA:17793, Rhea:RHEA-COMP:9670, Rhea:RHEA-COMP:14576, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57972, ChEBI:CHEBI:78442, ChEBI:CHEBI:78497; Evidence=; Homodimer. Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BHA3-1; Sequence=Displayed; Name=2; IsoId=Q8BHA3-2; Sequence=VSP_021174; A Gly-transPro motif from one monomer fits into the active site of the other monomer to allow specific chiral rejection of most L-amino acids except L-Ala. The trans conformation of the motif is maintained by Arg-151. Belongs to the DTD family. Sequence=BAB31157.1; Type=Frameshift; Evidence=; tRNA binding aminoacyl-tRNA editing activity RNA binding cytoplasm tRNA metabolic process hydrolase activity D-aminoacyl-tRNA deacylase activity D-tyrosyl-tRNA(Tyr) deacylase activity uc007nne.1 uc007nne.2 
ENSMUST00000021345.14 Gtf2a1 ENSMUST00000021345.14 general transcription factor II A, 1, transcript variant 1 (from RefSeq NM_031391.2) ENSMUST00000021345.1 ENSMUST00000021345.10 ENSMUST00000021345.11 ENSMUST00000021345.12 ENSMUST00000021345.13 ENSMUST00000021345.2 ENSMUST00000021345.3 ENSMUST00000021345.4 ENSMUST00000021345.5 ENSMUST00000021345.6 ENSMUST00000021345.7 ENSMUST00000021345.8 ENSMUST00000021345.9 NM_031391 Q8C812 Q99PM3 TF2AA_MOUSE uc007okr.1 uc007okr.2 uc007okr.3 uc007okr.4 TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation. TFIIA in a complex with TBP mediates transcriptional activity (By similarity). TFIIA is a heterodimer of a unprocessed large subunit 1 and a small subunit gamma. It was originally believed to be a heterotrimer of an alpha, a beta and a gamma subunit. TFIIA forms a complex with TBP (By similarity). Nucleus Expressed in pachytene spermatocytes and spermatids. Up-regulated during germ cell differentiation in testis. The alpha and beta subunits are postranslationally produced from the precursor form by TASP1. The cleavage promotes proteasomal degradation (By similarity). Belongs to the TFIIA subunit 1 family. Sequence=BAC33430.1; Type=Erroneous initiation; Evidence=; RNA polymerase II repressing transcription factor binding DNA binding protein binding nucleus nucleoplasm transcription factor TFIID complex transcription factor TFIIA complex cytoplasm cytosol transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter transcription factor binding obsolete general RNA polymerase II transcription factor activity TBP-class protein binding protein heterodimerization activity uc007okr.1 uc007okr.2 uc007okr.3 uc007okr.4 
ENSMUST00000021346.14 Tshr ENSMUST00000021346.14 thyroid stimulating hormone receptor, transcript variant 1 (from RefSeq NM_011648.5) ENSMUST00000021346.1 ENSMUST00000021346.10 ENSMUST00000021346.11 ENSMUST00000021346.12 ENSMUST00000021346.13 ENSMUST00000021346.2 ENSMUST00000021346.3 ENSMUST00000021346.4 ENSMUST00000021346.5 ENSMUST00000021346.6 ENSMUST00000021346.7 ENSMUST00000021346.8 ENSMUST00000021346.9 NM_011648 P47750 Q562E4 Q9D697 TSHR_MOUSE uc007okq.1 uc007okq.2 uc007okq.3 uc007okq.4 Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin. Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Plays a central role in controlling thyroid cell metabolism. Interacts with heterodimer GPHA2:GPHB5; this interaction stimulates cAMP production. Interacts (via the PDZ-binding motif) with SCRIB; regulates TSHR trafficking and function. Cell membrane ; Multi-pass membrane protein Basolateral cell membrane ; Multi-pass membrane protein Glycosylated. Sulfated. Sulfation on Tyr-385 plays a role in thyrotropin receptor binding and activation. Note=Defects in Tshr are the cause of hyt/hyt hypothyroidism, an autosomal recessive, fetal-onset, severe hypothyroidism related to TSH hyporesponsiveness and associated with elevated TSH. Belongs to the G-protein coupled receptor 1 family. FSH/LSH/TSH subfamily. G-protein coupled receptor activity thyroid-stimulating hormone receptor activity plasma membrane integral component of plasma membrane signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway activation of adenylate cyclase activity positive regulation of cell proliferation adult locomotory behavior G-protein coupled peptide receptor activity hormone-mediated signaling pathway membrane integral component of membrane basolateral plasma membrane protein-hormone receptor activity B cell differentiation signaling receptor activity thyroid-stimulating hormone signaling pathway regulation of locomotion positive regulation of multicellular organism growth receptor complex macromolecular complex binding membrane raft inner ear receptor cell development inner ear receptor stereocilium organization dopaminergic neuron differentiation cochlea morphogenesis cellular response to glycoprotein cellular response to thyrotropin-releasing hormone uc007okq.1 uc007okq.2 uc007okq.3 uc007okq.4 
ENSMUST00000021347.12 Sel1l ENSMUST00000021347.12 sel-1 suppressor of lin-12-like (C. elegans), transcript variant 1 (from RefSeq NM_001039089.1) ENSMUST00000021347.1 ENSMUST00000021347.10 ENSMUST00000021347.11 ENSMUST00000021347.2 ENSMUST00000021347.3 ENSMUST00000021347.4 ENSMUST00000021347.5 ENSMUST00000021347.6 ENSMUST00000021347.7 ENSMUST00000021347.8 ENSMUST00000021347.9 NM_001039089 Q9DBD8 Q9Z2G6 SE1L1_MOUSE Sel1h uc007oky.1 uc007oky.2 Plays a role in the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:25066055, PubMed:24453213). Enhances SYVN1 stability (PubMed:24453213). Plays a role in LPL maturation and secretion (PubMed:25066055). Required for normal differentiation of the pancreas epithelium, and for normal exocrine function and survival of pancreatic cells (PubMed:20170518, PubMed:24453213). May play a role in Notch signaling (PubMed:20170518). Homodimer and homooligomer (PubMed:27064360). May form a complex with ERLEC1, HSPA5, OS9, and SYVN1 (By similarity). Interacts with FOXRED2 and EDEM1 (By similarity). Interacts with LPL and LMF1; may stabilize the complex formed by LPL and LMF1 and thereby promote the export of LPL dimers (PubMed:25066055). Component of the HRD1 complex, which comprises at least SYNV1/HRD1, DERL1/2, FAM8A1, HERPUD1/HERP, OS9, SEL1L and UBE2J1 (By similarity). SYNV1 assembles with SEL1L and FAM8A1 through its transmembrane domains, but interaction with its cytoplasmic domain is required to confer stability to FAM8A1 and enhance recruitment of HERPUD1 (By similarity). The interaction with SYNV1/HRD1 is direct (PubMed:25066055, PubMed:27064360). Endoplasmic reticulum membrane ; Single-pass type I membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Z2G6-1; Sequence=Displayed; Name=2; IsoId=Q9Z2G6-2; Sequence=VSP_004384; Highly expressed in pancreas, white adipose tissue, liver and spleen (at protein level) (PubMed:25066055, PubMed:24453213). Detected in heart, brain, spleen, lung, liver, kidney and testis (PubMed:9858735). First detected at 12.5 dpc in a small number of pancreas epithelial cells. Highly expressed in embryonic pancreas epithelium at later stages of embryonic development. N-glycosylated. Taxomifen-inducible gene disruption in adult mice leads to premature death within 3 weeks after the onset of taxomifen treatment. Mice progressively loose weight and become moribund despite increased food intake and normal blood glucose levels, suggesting nutrient maladsorption. After eight days of treatment, the pancreas was diffusely dark red and soft, suggesting severe pancreas atrophy. Still, the endocrine parts of the pancreas were not affected. Pancreas weight was about half of that of wild-type, the size of secretory zymogen granules was reduced and pancreatic lipase and alpha-amylase levels were strongly reduced. Besides, the morphology of the endoplasmic reticulum in pancreas acinar cells was abnormal, with swollen and fragmented cisternae. Likewise, SYVN1 protein levels are decreased, while those of other ERAD markers are increased (PubMed:24453213). Adipocyte-specific gene disruption does not give rise to any obvious phenotype when mice are kept on a low-fat diet. Mutant mice are resistant to diet-induced obesity when kept on a high-fat diet, in spite of normal food intake and physical activity. Mutant mice show dramatically reduced accumulation of fat mass relative to wild-type, while lean mass is not affected. Intriguingly, mutant mice display enlarged livers that develop steatosis and increased triglyceride levels. Mutant mice display increased fasting serum triglyceride and insulin levels. Likewise, mutant mice display hypertriglyceridemia after feeding, especially on a high-fat diet. In spite of increased cellular LPL levels, LPL secretion is reduced by 80 to 90% (PubMed:25066055). Gene disruption after residue 465 and replacement of the C-terminus with a beta-galactosidase-neomycin reporter gene construct leads to complete embryonic lethality; most die before 13.5 dpc. Only 5% of the embryos are viable at 15.5 dpc. Mutant embryos display defects in the differentiation of the pancreas epithelium. The defects in pancreas differentiation can be alleviated by pharmacological inhibition of Notch signaling (in vitro). Belongs to the sel-1 family. Hrd1p ubiquitin ligase ERAD-L complex protein binding endoplasmic reticulum endoplasmic reticulum membrane triglyceride metabolic process Notch signaling pathway protein secretion membrane integral component of membrane protein ubiquitination ER-associated ubiquitin-dependent protein catabolic process retrograde protein transport, ER to cytosol response to endoplasmic reticulum stress ERAD pathway Derlin-1 retrotranslocation complex ubiquitin-protein transferase activity uc007oky.1 uc007oky.2 
ENSMUST00000021356.6 Dnaaf2 ENSMUST00000021356.6 dynein, axonemal assembly factor 2 (from RefSeq NM_027269.4) Dnaaf2 ENSMUST00000021356.1 ENSMUST00000021356.2 ENSMUST00000021356.3 ENSMUST00000021356.4 ENSMUST00000021356.5 KTU_MOUSE Ktu NM_027269 Q3T9I8 Q3U4G5 Q6P5G9 Q8BPI1 Q9CZC7 uc007nrt.1 uc007nrt.2 uc007nrt.3 This gene encodes a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for cilia formation. Mutations in the human gene have been associated with primary ciliary dyskinesia. [provided by RefSeq, Sep 2015]. ##Evidence-Data-START## Transcript exon combination :: BC055807.1, AB455811.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Required for cytoplasmic pre-assembly of axonemal dyneins, thereby playing a central role in motility in cilia and flagella. Involved in pre-assembly of dynein arm complexes in the cytoplasm before intraflagellar transport loads them for the ciliary compartment. Interacts with DNAI2 and HSPA1A (PubMed:19052621). Interacts with CFAP300. Interacts with DNAAF4. Interacts with DNAAF6/PIH1D3 (By similarity). Q8BPI1; A2AC93: Dnai2; NbExp=2; IntAct=EBI-15744709, EBI-15744757; Cytoplasm Dynein axonemal particle Note=Localizes in the apical cytoplasm around the gamma-tubulin-positive pericentriolar region, not in the cilia. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BPI1-1; Sequence=Displayed; Name=2; IsoId=Q8BPI1-2; Sequence=VSP_036538; Expressed in nearly all organs of adult, with higher expression in tissues known to have motile cilia and flagella, such as brain and testis. Belongs to the PIH1 family. Kintoun subfamily. Sequence=AAH58344.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAB28455.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAC35879.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAE32466.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAE43032.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; protein binding cytoplasm cytosol response to organic substance response to retinoic acid ciliary basal body cilium-dependent cell motility axonemal dynein complex assembly uc007nrt.1 uc007nrt.2 uc007nrt.3 
ENSMUST00000021359.7 Pole2 ENSMUST00000021359.7 polymerase (DNA directed), epsilon 2 (p59 subunit) (from RefSeq NM_011133.2) DPOE2_MOUSE ENSMUST00000021359.1 ENSMUST00000021359.2 ENSMUST00000021359.3 ENSMUST00000021359.4 ENSMUST00000021359.5 ENSMUST00000021359.6 NM_011133 O54956 Q6P3Y7 Q8BP72 uc007nrv.1 uc007nrv.2 uc007nrv.3 Accessory component of the DNA polymerase epsilon complex (By similarity). Participates in DNA repair and in chromosomal DNA replication (By similarity). Component of the DNA polymerase epsilon complex consisting of four subunits: the catalytic subunit POLE and the accessory subunits POLE2, POLE3 and POLE4. Nucleus. In eukaryotes there are five DNA polymerases: alpha, beta, gamma, delta, and epsilon which are responsible for different reactions of DNA synthesis. Belongs to the DNA polymerase epsilon subunit B family. DNA binding DNA-directed DNA polymerase activity nucleus nucleoplasm DNA replication DNA-dependent DNA replication epsilon DNA polymerase complex nuclear body transferase activity nucleotidyltransferase activity error-prone translesion synthesis intracellular membrane-bounded organelle uc007nrv.1 uc007nrv.2 uc007nrv.3 
ENSMUST00000021362.5 Klhdc2 ENSMUST00000021362.5 kelch domain containing 2 (from RefSeq NM_027117.3) E9QKN6 ENSMUST00000021362.1 ENSMUST00000021362.2 ENSMUST00000021362.3 ENSMUST00000021362.4 KLDC2_MOUSE Klhdc2 NM_027117 Q4G5Y1 Q99JY2 Q9D784 uc007nsa.1 uc007nsa.2 uc007nsa.3 uc007nsa.4 Substrate-recognition component of a Cul2-RING (CRL2) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation. The C-degron recognized by the DesCEND pathway is usually a motif of less than ten residues and can be present in full-length proteins, truncated proteins or proteolytically cleaved forms. The CRL2(KLHDC2) complex specifically recognizes proteins with a diglycine (Gly-Gly) at the C-terminus, leading to their ubiquitination and degradation. The CRL2(KLHDC2) complex mediates ubiquitination and degradation of truncated SELENOK and SELENOS selenoproteins produced by failed UGA/Sec decoding, which end with a diglycine. The CRL2(KLHDC2) complex also recognizes proteolytically cleaved proteins ending with Gly-Gly, such as the N-terminal fragment of USP1, leading to their degradation. May also act as an indirect repressor of CREB3-mediated transcription by interfering with CREB3-DNA-binding. Protein modification; protein ubiquitination. Component of a CRL2 E3 ubiquitin-protein ligase complex, also named ECS (Elongin BC-CUL2/5-SOCS-box protein) complex, composed of CUL2, Elongin BC (ELOB and ELOC), RBX1 and substrate-specific adapter KLHDC2. Interacts with CREB3; interaction is direct and specific as it does not interact with CREB1, ATF4, ATF6, JUN, FOS, CEBPA or herpes simplex virus transactivator VP16. Nucleus protein binding nucleus biological_process nuclear body nuclear membrane uc007nsa.1 uc007nsa.2 uc007nsa.3 uc007nsa.4 
ENSMUST00000021368.10 Nemf ENSMUST00000021368.10 nuclear export mediator factor (from RefSeq NM_025441.3) ENSMUST00000021368.1 ENSMUST00000021368.2 ENSMUST00000021368.3 ENSMUST00000021368.4 ENSMUST00000021368.5 ENSMUST00000021368.6 ENSMUST00000021368.7 ENSMUST00000021368.8 ENSMUST00000021368.9 NEMF_MOUSE NM_025441 Nemf Q3TAS9 Q3UF46 Q66JX6 Q8C9R6 Q8CA65 Q8CCP0 Q8JZT9 Q8R072 Q9CW30 Q9CYB8 Q9D4A9 uc007nse.1 uc007nse.2 uc007nse.3 uc007nse.4 Key component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates the extraction of incompletely synthesized nascent chains from stalled ribosomes as well as their ubiquitin-mediated proteasomal degradation (PubMed:33406423). Thereby, frees 60S subunit ribosomes from the stalled translation complex and prevents the accumulation of nascent polypeptide chains that are potentially toxic for the cell (PubMed:33406423). Within the RQC complex, NEMF specifically binds stalled 60S ribosomal subunits by recognizing an exposed, nascent chain-conjugated tRNA moiety and promotes the recruitment of LTN1 to stalled 60S subunits (By similarity). Following binding to stalled 60S ribosomal subunits, NEMF mediates CAT tailing by recruiting alanine-charged tRNA to the A-site and directing the elongation of stalled nascent chains independently of mRNA or 40S subunits, leading to non-templated C-terminal alanine extensions (CAT tails) (PubMed:33406423). Mainly recruits alanine- charged tRNAs, but can also other amino acid-charged tRNAs (By similarity). CAT tailing is required to promote ubiquitination of stalled nascent chains by different E3 ubiquitin-protein ligases (By similarity). In the canonical RQC pathway (RQC-L), CAT tailing facilitates LTN1-dependent ubiquitination by exposing lysine residues that would otherwise remain buried in the ribosomal exit tunnel (By similarity). In the alternative RQC pathway (RQC-C) CAT tailing creates an C-degron mainly composed of alanine that is recognized by the CRL2(KLHDC10) and RCHY1/PIRH2 E3 ligases, leading to ubiquitination and degradation of stalled nascent chains (By similarity). NEMF may also indirectly play a role in nuclear export (By similarity). Component of the ribosome quality control complex (RQC), composed of the E3 ubiquitin ligase LTN1, TCF25 and NEMF associated with the 60S ribosomal subunit (By similarity). The complex probably also contains VCP/p97 and its ubiquitin-binding cofactors (By similarity). Interacts (via its N-terminus) with XPO1 (By similarity). Cytoplasm, cytosol Nucleus Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8CCP0-1; Sequence=Displayed; Name=2; IsoId=Q8CCP0-2; Sequence=VSP_008397, VSP_008398; Name=3; IsoId=Q8CCP0-3; Sequence=VSP_010465, VSP_010466; Name=4; IsoId=Q8CCP0-4; Sequence=VSP_010463, VSP_010464; [Isoform 2]: Due to intron retention. Belongs to the NEMF family. Sequence=AAH27272.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=AAH53488.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=AAH53488.2; Type=Frameshift; Evidence=; Sequence=BAB30366.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAB30366.1; Type=Frameshift; Evidence=; Sequence=BAC27849.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAC27849.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence=; tRNA binding nucleus ribosomal large subunit binding nuclear export rescue of stalled ribosome RQC complex ribosome-associated ubiquitin-dependent protein catabolic process uc007nse.1 uc007nse.2 uc007nse.3 uc007nse.4 
ENSMUST00000021370.10 L2hgdh ENSMUST00000021370.10 L-2-hydroxyglutarate dehydrogenase (from RefSeq NM_145443.2) ENSMUST00000021370.1 ENSMUST00000021370.2 ENSMUST00000021370.3 ENSMUST00000021370.4 ENSMUST00000021370.5 ENSMUST00000021370.6 ENSMUST00000021370.7 ENSMUST00000021370.8 ENSMUST00000021370.9 L2HDH_MOUSE NM_145443 Q3TH61 Q3U7Z0 Q3ULY6 Q91YP0 uc011ynb.1 uc011ynb.2 uc011ynb.3 Reaction=(S)-2-hydroxyglutarate + A = 2-oxoglutarate + AH2; Xref=Rhea:RHEA:21252, ChEBI:CHEBI:13193, ChEBI:CHEBI:16782, ChEBI:CHEBI:16810, ChEBI:CHEBI:17499; EC=1.1.99.2; Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Mitochondrion Belongs to the L2HGDH family. (S)-2-hydroxy-acid oxidase activity mitochondrion integral component of membrane oxidoreductase activity cellular protein metabolic process 2-hydroxyglutarate dehydrogenase activity oxidation-reduction process uc011ynb.1 uc011ynb.2 uc011ynb.3 
ENSMUST00000021375.12 Sec23a ENSMUST00000021375.12 SEC23 homolog A, COPII coat complex component, transcript variant 1 (from RefSeq NM_009147.2) ENSMUST00000021375.1 ENSMUST00000021375.10 ENSMUST00000021375.11 ENSMUST00000021375.2 ENSMUST00000021375.3 ENSMUST00000021375.4 ENSMUST00000021375.5 ENSMUST00000021375.6 ENSMUST00000021375.7 ENSMUST00000021375.8 ENSMUST00000021375.9 NM_009147 Q01405 Q8JZL4 SC23A_MOUSE Sec23 Sec23a Sec23r uc007npw.1 uc007npw.2 uc007npw.3 Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (By similarity). Required for the translocation of insulin-induced glucose transporter SLC2A4/GLUT4 to the cell membrane (PubMed:27354378). COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1 (By similarity). Interacts with SEC23IP (PubMed:10400679). Interacts with HTR4 (PubMed:15466885). Interacts with SEC16A (PubMed:17428803). Interacts with SLC6A4 (PubMed:17452640). Interacts (as part of the Sec23/24 complex) with SEC22B; recruits SEC22B into COPII-coated vesicles and allows the transport of this cargo from the endoplasmic reticulum to the Golgi. Interacts (via Gelsolin-like repeat) with MIA2 and MIA3; specifically involved in the transport of large cargos like the collagen COL7A1 (By similarity). Interacts with DDHD1 (PubMed:17428803). Interacts with TMEM39A (By similarity). Interacts with SACM1L; this interaction is reduced in the absence of TMEM39A (By similarity). Interacts with kinase FAM20C; transport of FAM20C from the endoplasmic reticulum to the Golgi is likely to be mediated by COPII vesicles (By similarity). Q01405; Q9NR31: SAR1A; Xeno; NbExp=2; IntAct=EBI-775901, EBI-3920694; Cytoplasmic vesicle, COPII-coated vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side Endoplasmic reticulum membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasm, cytosol Note=Enriched at endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). High levels in brain and fibroblasts. The Gelsolin-like repeat mediates interaction with proteins containing PPP motifs that include MIA2, MIA3 but also SEC31A. These interactions are probably competitive. Belongs to the SEC23/SEC24 family. SEC23 subfamily. Sequence=BAA02209.1; Type=Frameshift; Evidence=; Golgi membrane GTPase activator activity protein binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane cytosol intracellular protein transport ER to Golgi vesicle-mediated transport zinc ion binding ER to Golgi transport vesicle membrane protein transport membrane vesicle-mediated transport extrinsic component of membrane COPII vesicle coat ER to Golgi transport vesicle cytoplasmic vesicle positive regulation of GTPase activity metal ion binding perinuclear region of cytoplasm endoplasmic reticulum exit site protein localization to plasma membrane cargo loading into COPII-coated vesicle COPII-coated vesicle budding uc007npw.1 uc007npw.2 uc007npw.3 
ENSMUST00000021377.5 Cdkl1 ENSMUST00000021377.5 cyclin dependent kinase like 1 (from RefSeq NM_183294.2) CDKL1_MOUSE Cdkl1 ENSMUST00000021377.1 ENSMUST00000021377.2 ENSMUST00000021377.3 ENSMUST00000021377.4 NM_183294 Q8CEQ0 uc007nst.1 uc007nst.2 Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.22; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.22; Cytoplasm Nucleus The [NKR]KIAxRE motif seems to be a cyclin-binding region. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. nucleotide binding protein kinase activity protein serine/threonine kinase activity cyclin-dependent protein serine/threonine kinase activity ATP binding nucleus nucleoplasm cytoplasm protein phosphorylation heart development kinase activity phosphorylation transferase activity ciliary transition zone intracellular membrane-bounded organelle regulation of cell cycle regulation of cilium assembly uc007nst.1 uc007nst.2 
ENSMUST00000021379.8 Gemin2 ENSMUST00000021379.8 gem nuclear organelle associated protein 2 (from RefSeq NM_025656.5) ENSMUST00000021379.1 ENSMUST00000021379.2 ENSMUST00000021379.3 ENSMUST00000021379.4 ENSMUST00000021379.5 ENSMUST00000021379.6 ENSMUST00000021379.7 GEMI2_MOUSE Gemin2 NM_025656 Q9CQQ4 Q9DAD7 Sip1 uc007npx.1 uc007npx.2 uc007npx.3 uc007npx.4 uc007npx.5 This gene encodes one of the proteins found in the survival of motor neuron (SMN) complex, which consists of the SMN protein and several gemin proteins. The SMN complex is localized to a subnuclear compartment called gems (gemini of coiled bodies) and is required for assembly of spliceosomal small nuclear ribonucleoproteins (snRNP) and for pre-mRNA splicing. This protein interacts directly with the SMN protein and it is required for formation of the SMN complex. Disruption of this gene in mouse resulted in impaired snRNP assembly, and motor neuron degeneration. [provided by RefSeq, Sep 2015]. ##Evidence-Data-START## Transcript exon combination :: AK005928.1, AK013414.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## The SMN complex catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome, and thereby plays an important role in the splicing of cellular pre- mRNAs (By similarity). Most spliceosomal snRNPs contain a common set of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG that assemble in a heptameric protein ring on the Sm site of the small nuclear RNA to form the core snRNP (Sm core) (By similarity). In the cytosol, the Sm proteins SNRPD1, SNRPD2, SNRPE, SNRPF and SNRPG (5Sm) are trapped in an inactive 6S pICln-Sm complex by the chaperone CLNS1A that controls the assembly of the core snRNP (By similarity). To assemble core snRNPs, the SMN complex accepts the trapped 5Sm proteins from CLNS1A (By similarity). Binding of snRNA inside 5Sm ultimately triggers eviction of the SMN complex, thereby allowing binding of SNRPD3 and SNRPB to complete assembly of the core snRNP (By similarity). Within the SMN complex, GEMIN2 constrains the conformation of 5Sm, thereby promoting 5Sm binding to snRNA containing the snRNP code (a nonameric Sm site and a 3'-adjacent stem-loop), thus preventing progression of assembly until a cognate substrate is bound (By similarity). Monomer (By similarity). Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Part of the SMN-Sm complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8, STRAP/UNRIP and the Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF and SNRPG (By similarity). Interacts with GEMIN5; the interaction is direct (By similarity). Interacts (via C-terminus) with SMN1; the interaction is direct (By similarity). Interacts with SNRPD1; the interaction is direct (By similarity). Interacts with SNRPD2; the interaction is direct (By similarity). Interacts (via N- terminus) with SNRPF; the interaction is direct (By similarity). Interacts (via N-terminus) with SNRPE; the interaction is direct (By similarity). Interacts (via N-terminus) with SNRPG; the interaction is direct (By similarity). Nucleus, gem Cytoplasm Note=Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs. Also found in the cytoplasm (By similarity). Belongs to the gemin-2 family. spliceosomal complex assembly spliceosomal snRNP assembly nucleus spliceosomal complex nucleolus cytoplasm cytosol mRNA processing RNA splicing nuclear body SMN complex SMN-Sm protein complex Gemini of coiled bodies uc007npx.1 uc007npx.2 uc007npx.3 uc007npx.4 uc007npx.5 
ENSMUST00000021380.10 Trappc6b ENSMUST00000021380.10 trafficking protein particle complex 6B, transcript variant 1 (from RefSeq NM_030057.3) ENSMUST00000021380.1 ENSMUST00000021380.2 ENSMUST00000021380.3 ENSMUST00000021380.4 ENSMUST00000021380.5 ENSMUST00000021380.6 ENSMUST00000021380.7 ENSMUST00000021380.8 ENSMUST00000021380.9 NM_030057 Q9D289 TPC6B_MOUSE Trappc6b uc007npy.1 uc007npy.2 uc007npy.3 uc007npy.4 Component of a transport protein particle (TRAPP) complex that may function in specific stages of inter-organelle traffic (By similarity). Specifically involved in the early development of neural circuitry, likely by controlling the frequency and amplitude of intracellular calcium transients implicated in the regulation of neuron differentiation and survival (By similarity). Homodimer (By similarity). Part of a TRAPP complex. Heterodimer with TRAPPC3 (By similarity). The heterodimer TRAPPC6B- TRAPPC3 interacts with TRAPPC1 likely providing a core for TRAPP complex formation (By similarity). Golgi apparatus, cis-Golgi network Endoplasmic reticulum Widely expressed. Expressed in lung, heart, liver, spleen, brain and kidney. Belongs to the TRAPP small subunits family. BET3 subfamily. molecular_function endoplasmic reticulum Golgi apparatus cis-Golgi network trans-Golgi network ER to Golgi vesicle-mediated transport nervous system development regulation of GTPase activity Golgi vesicle transport uc007npy.1 uc007npy.2 uc007npy.3 uc007npy.4 
ENSMUST00000021381.6 Pnn ENSMUST00000021381.6 pinin (from RefSeq NM_008891.2) ENSMUST00000021381.1 ENSMUST00000021381.2 ENSMUST00000021381.3 ENSMUST00000021381.4 ENSMUST00000021381.5 NM_008891 Pnn Q3TUQ5 Q3TUQ5_MOUSE uc007nqb.1 uc007nqb.2 uc007nqb.3 Found in a mRNA splicing-dependent exon junction complex (EJC). Found in a complex with SR proteins. Found in a mRNP complex with RNPS1. Component of the PSAP complex consisting of RNPS1, SAP18 and PNN. Interacts with PNISR, CTBP1, CTBP2, KRT8, KRT18, KRT19, PS1D/PNO40, PPIG, RNPS1, SFRS4 and SRRM2. Identified in the spliceosome C complex. Cell junction, desmosome Nucleus speckle Belongs to the pinin family. nuclear speck exon-exon junction complex catalytic step 2 spliceosome uc007nqb.1 uc007nqb.2 uc007nqb.3 
ENSMUST00000021390.9 Galc ENSMUST00000021390.9 galactosylceramidase (from RefSeq NM_008079.4) ENSMUST00000021390.1 ENSMUST00000021390.2 ENSMUST00000021390.3 ENSMUST00000021390.4 ENSMUST00000021390.5 ENSMUST00000021390.6 ENSMUST00000021390.7 ENSMUST00000021390.8 GALC_MOUSE Galc NM_008079 O35151 P54818 Q3U3H7 uc007olf.1 uc007olf.2 uc007olf.3 uc007olf.4 This gene encodes galactosylceramidase, the lysosomal hydryolase involved in the catabolism of galactosylceramide. Mutations in this gene result in slow growth, tremors and hind leg weakness, collectively termed as the 'twitcher' phenotype. In humans, deficiency of this gene product causes a lysosomal storage disorder known as Krabbe disease. [provided by RefSeq, Dec 2014]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC086671.1, AK154760.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Hydrolyzes the galactose ester bonds of glycolipids such as galactosylceramide and galactosylsphingosine (PubMed:8769874, PubMed:10861297). Enzyme with very low activity responsible for the lysosomal catabolism of galactosylceramide, a major lipid in myelin, kidney and epithelial cells of small intestine and colon (By similarity). Reaction=a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine + H2O = an N-acylsphing-4-enine + D-galactose; Xref=Rhea:RHEA:14297, ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:18390, ChEBI:CHEBI:52639; EC=3.2.1.46; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:14298; Evidence=; Reaction=a D-galactosylceramide + H2O = an N-acyl-sphingoid base + D- galactose; Xref=Rhea:RHEA:43412, ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:36498, ChEBI:CHEBI:83273; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43413; Evidence=; Reaction=beta-D-galactosyl-(1<->1)-sphing-4-enine + H2O = D-galactose + sphing-4-enine; Xref=Rhea:RHEA:43908, ChEBI:CHEBI:4139, ChEBI:CHEBI:15377, ChEBI:CHEBI:57756, ChEBI:CHEBI:57934; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43909; Evidence=; Lysosome Detected in brain and kidney. Note=Defects in Galc are the cause of the 'twitcher' phenotype; an autosomal recessive leukodystrophy similar to the human disease (Krabbe disease). This deficiency results in the insufficient catabolism of several galactolipids that are important in the production of normal myelin. Belongs to the glycosyl hydrolase 59 family. It is uncertain whether Met-1 or Met-17 is the initiator. Sequence=AAB71823.1; Type=Erroneous initiation; Evidence=; Sequence=AAH86671.1; Type=Erroneous initiation; Evidence=; Sequence=BAA07560.1; Type=Erroneous initiation; Evidence=; catalytic activity galactosylceramidase activity mitochondrion lysosome lipid metabolic process sphingolipid metabolic process galactosylceramide catabolic process metabolic process lipid catabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds myelination uc007olf.1 uc007olf.2 uc007olf.3 uc007olf.4 
ENSMUST00000021405.8 Polr2h ENSMUST00000021405.8 polymerase (RNA) II (DNA directed) polypeptide H, transcript variant 6 (from RefSeq NR_184435.1) ENSMUST00000021405.1 ENSMUST00000021405.2 ENSMUST00000021405.3 ENSMUST00000021405.4 ENSMUST00000021405.5 ENSMUST00000021405.6 ENSMUST00000021405.7 NR_184435 Q3TT30 Q923G2 RPAB3_MOUSE uc007yqz.1 uc007yqz.2 uc007yqz.3 DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I, II and III which synthesize ribosomal RNA precursors, mRNA precursors and many functional non- coding RNAs, and small RNAs, such as 5S rRNA and tRNAs, respectively. Component of the RNA polymerase I (Pol I), RNA polymerase II (Pol II) and RNA polymerase III (Pol III) complexes consisting of at least 13, 12 and 17 subunits, respectively. Directly interacts with POLR2A. The transcriptionally active RNA Pol III complex consists of a ten-subunit horseshoe-shaped catalytic core composed of POLR3A/RPC1, POLR3B/RPC2, POLR1C/RPAC1, POLR1D/RPAC2, POLR3K/RPC10, POLR2E/RPABC1, POLR2F/RPABC2, POLR2H/RPABC3, POLR2K/RPABC4 and POLR2L/RPABC5; a mobile stalk composed of two subunits POLR3H/RPC8 and CRCP/RPC9, protruding from the core and functioning primarily in transcription initiation; and additional subunits homologous to general transcription factors of the RNA polymerase II machinery, POLR3C/RPC3-POLR3F/RPC6-POLR3G/RPC7 heterotrimer required for transcription initiation and POLR3D/RPC4- POLR3E/RPC5 heterodimer involved in both transcription initiation and termination. Nucleus Belongs to the eukaryotic RPB8 RNA polymerase subunit family. DNA binding single-stranded DNA binding DNA-directed 5'-3' RNA polymerase activity nucleus nucleoplasm DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase III complex nucleolus DNA-directed RNA polymerase I complex transcription, DNA-templated transcription from RNA polymerase I promoter transcription from RNA polymerase II promoter transcription from RNA polymerase III promoter protein-DNA complex RNA polymerase I activity RNA polymerase II activity RNA polymerase III activity uc007yqz.1 uc007yqz.2 uc007yqz.3 
ENSMUST00000021406.6 2700097O09Rik ENSMUST00000021406.6 RIKEN cDNA 2700097O09 gene, transcript variant 3 (from RefSeq NR_155260.1) 2700097O09Rik ENSMUST00000021406.1 ENSMUST00000021406.2 ENSMUST00000021406.3 ENSMUST00000021406.4 ENSMUST00000021406.5 NR_155260 Q6PGK3 Q6PGK3_MOUSE uc007nod.1 uc007nod.2 uc007nod.1 uc007nod.2 
ENSMUST00000021410.10 Ppp2r3c ENSMUST00000021410.10 protein phosphatase 2, regulatory subunit B'', gamma, transcript variant 5 (from RefSeq NR_168552.1) B2RR97 ENSMUST00000021410.1 ENSMUST00000021410.2 ENSMUST00000021410.3 ENSMUST00000021410.4 ENSMUST00000021410.5 ENSMUST00000021410.6 ENSMUST00000021410.7 ENSMUST00000021410.8 ENSMUST00000021410.9 G5pr MNCb-1932 NR_168552 P2R3C_MOUSE Q9CSA6 Q9JJD2 Q9JK24 uc007nom.1 uc007nom.2 uc007nom.3 May regulate MCM3AP phosphorylation through phosphatase recruitment (PubMed:12167160). May act as a negative regulator of ABCB1 expression and function through the dephosphorylation of ABCB1 by TFPI2/PPP2R3C complex (By similarity). May play a role in the activation-induced cell death of B-cells (PubMed:16129705, PubMed:16343422). Interacts with MCM3AP/GANP, PPP5C, and the phosphatase 2A core enzyme composed of the PPP2CA catalytic subunit and the constant regulatory subunit PPP2R1A. Finds in a complex with ABCB1, TFPI2 and PPP2R3C; leading to the dephosphorylation of ABCB1. Nucleus Cytoplasm Note=Excluded from the nucleoli. Localization is cell cycle-dependent. Localizes to the cytoplasm during cytokinesis. Expressed in all tissues tested including heart, brain, spleen, thymus, lung, liver, kidney and testis. Detected from 6 to 12 dpc in whole embryos and from 14 to 18 dpc in the heads of the embryos. Expressed in central nervous system, spine, face, pharynx, limbs and viscera at 11 dpc. Up-regulated upon B-cell receptor cross-linking. Mice display a reduction in the number of mature B-cells and an impaired B-cell proliferation upon B-Cell receptor cross-linking probably due to a loss of inhibition of BCR-induced apoptosis. PPP2R3C overexpression protects B-cells from activation- induced cell death. microtubule cytoskeleton organization B cell homeostasis regulation of antimicrobial humoral response protein binding nucleus cytoplasm Golgi apparatus centrosome spindle cytosol cortical cytoskeleton organization activation of protein kinase activity regulation of dephosphorylation T cell homeostasis positive regulation of B cell differentiation metal ion binding spleen development regulation of B cell activation regulation of mitochondrial depolarization uc007nom.1 uc007nom.2 uc007nom.3 
ENSMUST00000021411.15 Prorp ENSMUST00000021411.15 protein only RNase P catalytic subunit (from RefSeq NM_025373.1) ENSMUST00000021411.1 ENSMUST00000021411.10 ENSMUST00000021411.11 ENSMUST00000021411.12 ENSMUST00000021411.13 ENSMUST00000021411.14 ENSMUST00000021411.2 ENSMUST00000021411.3 ENSMUST00000021411.4 ENSMUST00000021411.5 ENSMUST00000021411.6 ENSMUST00000021411.7 ENSMUST00000021411.8 ENSMUST00000021411.9 Kiaa0391 MRPP3_MOUSE Mrpp3 NM_025373 Q6A076 Q8BSN8 Q8JZY4 Q9CTH1 Q9D7W9 uc007nop.1 uc007nop.2 uc007nop.3 uc007nop.4 Catalytic ribonuclease component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP, which cleaves tRNA molecules in their 5'-ends. The presence of TRMT10C/MRPP1, HSD17B10/MRPP2 is required to catalyze tRNA molecules in their 5'-ends. Reaction=Endonucleolytic cleavage of RNA, removing 5'-extranucleotides from tRNA precursor.; EC=3.1.26.5; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 Mg(2+) or Mg(2+) ions per subunit. ; Catalytic component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3. Mitochondrion Detected, after the onset of hearing, in the organ of Corti around the afferent and efferent synapses of the inner hair cells and the efferent synapses of the outer hair cells. Displays a distorted and non-productive active site that probably switches to a fully productive state only upon association with TRMT10C/MRPP1, HSD17B10/MRPP2 and pre-tRNA substrate. Degraded by LONP1 following mitochondrial unfolded protein response, probably leading to inhibit translation in mitochondrion. Belongs to the PPR family. P subfamily. Sequence=BAB25874.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAD32220.1; Type=Miscellaneous discrepancy; Note=Partial sequence.; Evidence=; tRNA 5'-leader removal nuclease activity ribonuclease P activity nucleus mitochondrion tRNA processing hydrolase activity mitochondrial ribonuclease P complex mitochondrial nucleoid metal ion binding nucleic acid phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis RNA phosphodiester bond hydrolysis, endonucleolytic mitochondrial tRNA 5'-end processing uc007nop.1 uc007nop.2 uc007nop.3 uc007nop.4 
ENSMUST00000021412.9 Psma6 ENSMUST00000021412.9 proteasome subunit alpha 6, transcript variant 1 (from RefSeq NM_011968.3) ENSMUST00000021412.1 ENSMUST00000021412.2 ENSMUST00000021412.3 ENSMUST00000021412.4 ENSMUST00000021412.5 ENSMUST00000021412.6 ENSMUST00000021412.7 ENSMUST00000021412.8 NM_011968 PSA6_MOUSE Q0VGS3 Q3TT07 Q3U6Y2 Q9QUM9 uc007noq.1 uc007noq.2 uc007noq.3 uc007noq.4 Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin- independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is a barrel-shaped complex made of 28 subunits that are arranged in four stacked rings. The two outer rings are each formed by seven alpha subunits, and the two inner rings are formed by seven beta subunits. The proteolytic activity is exerted by three beta-subunits PSMB5, PSMB6 and PSMB7 (PubMed:16857966, PubMed:22341445). Interacts with ALKBH4 (By similarity). Cytoplasm Nucleus Note=Translocated from the cytoplasm into the nucleus following interaction with AKIRIN2, which bridges the proteasome with the nuclear import receptor IPO9 (By similarity). Colocalizes with TRIM5 in cytoplasmic bodies (PubMed:22078707). Detected in liver (at protein level). Up-regulated in liver tumor tissues (at protein level). Belongs to the peptidase T1A family. proteasome complex P-body RNA binding endopeptidase activity threonine-type endopeptidase activity nucleus nucleoplasm cytoplasm cytosol proteasome core complex polysome proteolysis ubiquitin-dependent protein catabolic process skeletal muscle tissue development peptidase activity proteasomal protein catabolic process proteasomal ubiquitin-independent protein catabolic process nuclear matrix hydrolase activity proteasome core complex, alpha-subunit complex myofibril sarcomere proteasome-mediated ubiquitin-dependent protein catabolic process NF-kappaB binding positive regulation of NF-kappaB transcription factor activity proteolysis involved in cellular protein catabolic process uc007noq.1 uc007noq.2 uc007noq.3 uc007noq.4 
ENSMUST00000021413.9 Nfkbia ENSMUST00000021413.9 nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha (from RefSeq NM_010907.2) ENSMUST00000021413.1 ENSMUST00000021413.2 ENSMUST00000021413.3 ENSMUST00000021413.4 ENSMUST00000021413.5 ENSMUST00000021413.6 ENSMUST00000021413.7 ENSMUST00000021413.8 IKBA_MOUSE Ikba NM_010907 Q3U9W9 Q3UB40 Q80ZX5 Q9Z1E3 uc007nor.1 uc007nor.2 uc007nor.3 uc007nor.4 Inhibits the activity of dimeric NF-kappa-B/REL complexes by trapping REL (RELA/p65 and NFKB1/p50) dimers in the cytoplasm by masking their nuclear localization signals (PubMed:10097128, PubMed:9990853). On cellular stimulation by immune and pro-inflammatory responses, becomes phosphorylated promoting ubiquitination and degradation, enabling the dimeric RELA to translocate to the nucleus and activate transcription (PubMed:7878466, PubMed:10097128, PubMed:9990853). Interacts with RELA; the interaction requires the nuclear import signal (By similarity). Part of a 70-90 kDa complex at least consisting of CHUK, IKBKB, NFKBIA, RELA, ELP1 and MAP3K14 (By similarity). Interacts with NKIRAS1 and NKIRAS2 (By similarity). Interacts with RWDD3; the interaction enhances sumoylation (By similarity). Interacts with PRMT2 (By similarity). Interacts with PRKACA in platelets; this interaction is disrupted by thrombin and collagen (By similarity). Interacts with MEFV (By similarity). Interacts with DDRGK1; positively regulates NFKBIA phosphorylation and degradation (By similarity). Q9Z1E3; O88895: Hdac3; NbExp=2; IntAct=EBI-644427, EBI-302263; Q9Z1E3; Q04207: Rela; NbExp=9; IntAct=EBI-644427, EBI-644400; Q9Z1E3; Q04863: Relb; NbExp=4; IntAct=EBI-644427, EBI-1209145; Cytoplasm Nucleus Note=Shuttles between the nucleus and the cytoplasm by a nuclear localization signal (NLS) and a CRM1- dependent nuclear export. Highly expressed in lymph node, thymus followed by liver, brain, muscle, kidney, gastrointestinal and reproductive tract. Phosphorylated at Ser-32 and Ser-36 by IKKA/CHUK and IKKB/IKBKB; disables inhibition of NF-kappa-B DNA-binding activity (PubMed:7878466, PubMed:9859996, PubMed:9990853, PubMed:10097128). Phosphorylation at positions 32 and 36 is prerequisite to recognition by the SCF(FBXW11) and SCF(BTRC) complexes, leading to polyubiquitination and subsequent degradation (PubMed:9859996, PubMed:10097128). Polyubiquitinated at Lys-21 and/or Lys-22 following phosphorylation at Ser-32 and Ser-36 (PubMed:9990853). Monoubiquitinated at Lys-21 and/or Lys-22 by UBE2D3 (By similarity). Ubiquitin chain elongation is then performed by CDC34 in cooperation with the SCF(FBXW11) E3 ligase complex, building ubiquitin chains from the UBE2D3-primed NFKBIA-linked ubiquitin (By similarity). The resulting polyubiquitination leads to protein degradation (By similarity). Also ubiquitinated by the SCF(BTRC) complex following stimulus-dependent phosphorylation at Ser-32 and Ser-36 (By similarity). Deubiquitinated by USP38, leading to NF-kappa-B inhibition (By similarity). Sumoylated; sumoylation requires the presence of the nuclear import signal. Sumoylation blocks ubiquitination and proteasome- mediated degradation of the protein thereby increasing the protein stability. Hydroxylated by HIF1AN. Belongs to the NF-kappa-B inhibitor family. protein binding nucleus cytoplasm cytosol plasma membrane protein import into nucleus I-kappaB kinase/NF-kappaB signaling cytoplasmic sequestering of NF-kappaB nuclear localization sequence binding regulation of gene expression negative regulation of macrophage derived foam cell differentiation positive regulation of cholesterol efflux negative regulation of lipid storage enzyme binding heat shock protein binding ubiquitin protein ligase binding lipopolysaccharide-mediated signaling pathway negative regulation of NF-kappaB transcription factor activity positive regulation of cellular protein metabolic process response to muramyl dipeptide response to lipopolysaccharide macromolecular complex tumor necrosis factor-mediated signaling pathway toll-like receptor 4 signaling pathway response to muscle stretch regulation of cell proliferation identical protein binding cytoplasmic sequestering of transcription factor response to exogenous dsRNA macromolecular complex binding negative regulation of myeloid cell differentiation negative regulation of Notch signaling pathway positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of inflammatory response NF-kappaB binding nucleotide-binding oligomerization domain containing 1 signaling pathway nucleotide-binding oligomerization domain containing 2 signaling pathway cellular response to cytokine stimulus cellular response to tumor necrosis factor cellular response to organic cyclic compound uc007nor.1 uc007nor.2 uc007nor.3 uc007nor.4 
ENSMUST00000021416.9 Mbip ENSMUST00000021416.9 MAP3K12 binding inhibitory protein 1 (from RefSeq NM_145442.2) ENSMUST00000021416.1 ENSMUST00000021416.2 ENSMUST00000021416.3 ENSMUST00000021416.4 ENSMUST00000021416.5 ENSMUST00000021416.6 ENSMUST00000021416.7 ENSMUST00000021416.8 MBIP1_MOUSE NM_145442 Q3TBM3 Q99LQ1 uc007npc.1 uc007npc.2 uc007npc.3 uc007npc.4 uc007npc.5 Inhibits the MAP3K12 activity to induce the activation of the JNK/SAPK pathway. Component of the ATAC complex, a complex with histone acetyltransferase activity on histones H3 and H4. Component of the ADA2A-containing complex (ATAC), composed of KAT14, KAT2A, TADA2L, TADA3L, ZZ3, MBIP, WDR5, YEATS2, CCDC101 and DR1. In the complex, it probably interacts directly with KAT2A, KAT14 and WDR5. Nucleus Cytoplasm Note=Shows a cytoplasmic localization when co-expressed with MAP3K12. protein binding nucleus Ada2/Gcn5/Ada3 transcription activator complex nucleolus cytoplasm cytosol molybdopterin synthase activity identical protein binding histone H3 acetylation uc007npc.1 uc007npc.2 uc007npc.3 uc007npc.4 uc007npc.5 
ENSMUST00000021420.14 Ngb ENSMUST00000021420.14 neuroglobin, transcript variant 2 (from RefSeq NM_022414.2) ENSMUST00000021420.1 ENSMUST00000021420.10 ENSMUST00000021420.11 ENSMUST00000021420.12 ENSMUST00000021420.13 ENSMUST00000021420.2 ENSMUST00000021420.3 ENSMUST00000021420.4 ENSMUST00000021420.5 ENSMUST00000021420.6 ENSMUST00000021420.7 ENSMUST00000021420.8 ENSMUST00000021420.9 NGB_MOUSE NM_022414 Q9ER97 uc007oii.1 uc007oii.2 Involved in oxygen transport in the brain. Hexacoordinate globin, displaying competitive binding of oxygen or the distal His residue to the iron atom. Not capable of penetrating cell membranes. The deoxygenated form exhibits nitrite reductase activity inhibiting cellular respiration via NO-binding to cytochrome c oxidase. Involved in neuroprotection during oxidative stress. May exert its anti- apoptotic activity by acting to reset the trigger level of mitochondrial cytochrome c release necessary to commit the cells to apoptosis. Monomer. Homodimer and homotetramer; disulfide-linked (Probable). Interacts with 14-3-3 (By similarity). Perikaryon Cytoplasm Mitochondrion Predominantly expressed in brain. A redox disulfide bond regulates the heme pocket coordination and the rate of nitrite reduction to NO. Phosphorylated in vitro by ERK1, ERK2 and PKA, and in vivo during hypoxia. Phosphorylation increases nitrite reductase activity (By similarity). Belongs to the globin family. oxygen transporter activity protein binding cytoplasm mitochondrion apoptotic process visual perception oxygen transport oxygen binding heme binding neuron projection development neuron projection positive regulation of catalytic activity perikaryon metal ion binding negative regulation of hydrogen peroxide-induced cell death uc007oii.1 uc007oii.2 
ENSMUST00000021424.5 Sptlc2 ENSMUST00000021424.5 serine palmitoyltransferase, long chain base subunit 2 (from RefSeq NM_011479.4) ENSMUST00000021424.1 ENSMUST00000021424.2 ENSMUST00000021424.3 ENSMUST00000021424.4 NM_011479 Q542D6 Q542D6_MOUSE Sptlc2 uc007oiw.1 uc007oiw.2 uc007oiw.3 This gene encodes a long chain base subunit of serine palmitoyltransferase. The enzyme, serine palmitoyltransferase, consists of two different subunits, and is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. A mutant allele of this gene in mice is used as a model for the human disease 'Susceptibilty to Psoriasis 1'. Mutations in the human gene are associated with hereditary sensory neuropathy type I. [provided by RefSeq, Sep 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK044917.1, SRR1660819.51550.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164134, SAMN01164139 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326; Evidence= Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. catalytic activity serine C-palmitoyltransferase activity biosynthetic process transferase activity serine C-palmitoyltransferase complex sphingolipid biosynthetic process pyridoxal phosphate binding ceramide biosynthetic process positive regulation of lipophagy uc007oiw.1 uc007oiw.2 uc007oiw.3 
ENSMUST00000021425.8 Ahsa1 ENSMUST00000021425.8 AHA1, activator of heat shock protein ATPase 1, transcript variant 1 (from RefSeq NM_146036.2) AHSA1_MOUSE ENSMUST00000021425.1 ENSMUST00000021425.2 ENSMUST00000021425.3 ENSMUST00000021425.4 ENSMUST00000021425.5 ENSMUST00000021425.6 ENSMUST00000021425.7 NM_146036 Q8BK64 Q8R3E6 uc007oit.1 uc007oit.2 uc007oit.3 Acts as a co-chaperone of HSP90AA1 (PubMed:29127155). Activates the ATPase activity of HSP90AA1 leading to increase in its chaperone activity (PubMed:29127155). Competes with the inhibitory co- chaperone FNIP1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (By similarity). Competes with the inhibitory co-chaperone TSC1 for binding to HSP90AA1, thereby providing a reciprocal regulatory mechanism for chaperoning of client proteins (PubMed:29127155). Interacts with HSPCA/HSP90 (By similarity). Interacts with HSP90AA1; the interaction activates HSP90AA1 ATPase activity (PubMed:29127155). Interacts with HSP90AB1 (PubMed:22022502). Interacts with GCH1 (By similarity). Interacts with SRPK1 (By similarity). Interacts with FLCN (By similarity). Cytoplasm, cytosol Endoplasmic reticulum Note=May transiently interact with the endoplasmic reticulum. By heat shock and treatment with the HSP90 inhibitor 17- demethoxygeldanamycin (17AAG). Phosphorylation at Tyr-223 enhances binding to chaperone HSP90AA1. Belongs to the AHA1 family. ATPase activator activity protein binding cytoplasm endoplasmic reticulum cytosol protein folding positive regulation of ATPase activity chaperone binding Hsp90 protein binding uc007oit.1 uc007oit.2 uc007oit.3 
ENSMUST00000021428.9 Snw1 ENSMUST00000021428.9 SNW domain containing 1 (from RefSeq NM_025507.2) A0A0B4J1E2 A0A0B4J1E2_MOUSE ENSMUST00000021428.1 ENSMUST00000021428.2 ENSMUST00000021428.3 ENSMUST00000021428.4 ENSMUST00000021428.5 ENSMUST00000021428.6 ENSMUST00000021428.7 ENSMUST00000021428.8 NM_025507 Snw1 uc007ojf.1 uc007ojf.2 uc007ojf.3 Involved in pre-mRNA splicing. Identified in the spliceosome C complex. Nucleus Belongs to the SNW family. mRNA splicing, via spliceosome chromatin nucleoplasm spliceosomal complex cytoplasm Schwann cell proliferation SMAD protein complex uc007ojf.1 uc007ojf.2 uc007ojf.3 
ENSMUST00000021438.8 Nova1 ENSMUST00000021438.8 NOVA alternative splicing regulator 1, transcript variant 1 (from RefSeq NM_021361.2) ENSMUST00000021438.1 ENSMUST00000021438.2 ENSMUST00000021438.3 ENSMUST00000021438.4 ENSMUST00000021438.5 ENSMUST00000021438.6 ENSMUST00000021438.7 NM_021361 NOVA1_MOUSE Nova1 Q8C8B9 Q9JKN6 uc007nmd.1 uc007nmd.2 uc007nmd.3 uc007nmd.4 Functions to regulate alternative splicing in neurons by binding pre-mRNA in a sequence-specific manner to activate exon inclusion or exclusion (PubMed:8558240, PubMed:15933722, PubMed:17065982, PubMed:14615540). It binds specifically to the sequences 5'-YCAY-3' and regulates splicing in only a subset of regulated exons (PubMed:9154818, PubMed:8558240, PubMed:14615540). Binding to an exonic 5'-YCAY-3' cluster changes the protein complexes assembled on pre-mRNA, blocking U1 snRNP binding and exon inclusion, whereas binding to an intronic 5'-YCAY-3' cluster enhances spliceosome assembly and exon inclusion (PubMed:10719891). Binding to 5'-YCAY-3' clusters results in a local and asymmetric action to regulate spliceosome assembly and alternative splicing in neurons. Binding to an exonic 5'-YCAY-3' cluster changed the protein complexes assembled on pre-mRNA, blocking U1 snRNP (small nuclear ribonucleoprotein) binding and exon inclusion, whereas binding to an intronic 5'-YCAY-3' cluster enhanced spliceosome assembly and exon inclusion (PubMed:17065982, PubMed:15933722). With NOVA1, they perform unique biological functions in different brain areas and cell types (PubMed:30638744). Autoregulates its own expression by acting as a splicing repressor (PubMed:15933722). Acts to activate the inclusion of exon E3A in the glycine receptor alpha-2 chain and of exon E9 in gamma-aminobutyric- acid receptor gamma-2 subunit via a distal downstream UCAU-rich intronic splicing enhancer (PubMed:12808107). Acts to regulate a novel glycine receptor alpha-2 chain splice variant (alpha-2N) in developing spinal cord (PubMed:17065982). Interacts with PTBP2; the interaction is direct. Nucleus Expressed in neurons of the cortex, sub-cortex, cerebellum and brainstem (at protein level)(PubMed:10829067). Expressed in motor neurons, but not in glia (PubMed:10829067). The KH domain consists of approximately 70 amino acids and includes a conserved hydrophobic core, an invariant Gly-X-X-Gly motif, and an additional variable segment. The third KH domain (KH3) binds a hairpin RNA loop containing the 5'-UCAY-3' motif on targeted molecules. RNA binding by KH3 requires residues C-terminal to the KH domain. Note=Defects in Nova1 leads to neuronal death in spinal and brainstem neurons. mRNA splicing, via spliceosome nucleic acid binding RNA binding mRNA binding mRNA 3'-UTR binding nucleus nucleolus intracellular membrane-bounded organelle regulation of mRNA processing regulation of RNA metabolic process uc007nmd.1 uc007nmd.2 uc007nmd.3 uc007nmd.4 
ENSMUST00000021443.7 Mthfd1 ENSMUST00000021443.7 methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase (from RefSeq NM_138745.2) C1TC_MOUSE ENSMUST00000021443.1 ENSMUST00000021443.2 ENSMUST00000021443.3 ENSMUST00000021443.4 ENSMUST00000021443.5 ENSMUST00000021443.6 NM_138745 Q8R013 Q922D8 uc007nxz.1 uc007nxz.2 uc007nxz.3 uc007nxz.4 This gene encodes a trifunctional cytoplasmic enzyme. The encoded protein functions as a methylenetetrahydrofolate dehydrogenase, a methenyltetrahydrofolate cyclohydrolase, and a formyltetrahydrofolate synthase. The encoded enzyme functions in de novo synthesis of purines and thymidylate and in regeneration of methionine from homocysteine. [provided by RefSeq, Oct 2009]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK129012.1, SRR1660815.187204.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Trifunctional enzyme that catalyzes the interconversion of three forms of one-carbon-substituted tetrahydrofolate: (6R)-5,10- methylene-5,6,7,8-tetrahydrofolate, 5,10-methenyltetrahydrofolate and (6S)-10-formyltetrahydrofolate. These derivatives of tetrahydrofolate are differentially required in nucleotide and amino acid biosynthesis, (6S)-10-formyltetrahydrofolate being required for purine biosynthesis while (6R)-5,10-methylene-5,6,7,8-tetrahydrofolate is used for serine and methionine biosynthesis for instance. Reaction=(6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + NADP(+) = (6R)- 5,10-methenyltetrahydrofolate + NADPH; Xref=Rhea:RHEA:22812, ChEBI:CHEBI:15636, ChEBI:CHEBI:57455, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.5.1.5; Evidence=; Reaction=(6R)-5,10-methenyltetrahydrofolate + H2O = (6R)-10- formyltetrahydrofolate + H(+); Xref=Rhea:RHEA:23700, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57455, ChEBI:CHEBI:195366; EC=3.5.4.9; Evidence=; Reaction=(6S)-5,6,7,8-tetrahydrofolate + ATP + formate = (6R)-10- formyltetrahydrofolate + ADP + phosphate; Xref=Rhea:RHEA:20221, ChEBI:CHEBI:15740, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57453, ChEBI:CHEBI:195366, ChEBI:CHEBI:456216; EC=6.3.4.3; Evidence=; One-carbon metabolism; tetrahydrofolate interconversion. Homodimer. Cytoplasm The N-terminal methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase (D/C) domain carries both the methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase activities. The larger C-terminal formyltetrahydrofolate synthetase domain carries a third formyltetrahydrofolate synthetase activity. In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family. In the C-terminal section; belongs to the formate-- tetrahydrofolate ligase family. histidine biosynthetic process nucleotide binding neutrophil homeostasis neural tube closure catalytic activity formate-tetrahydrofolate ligase activity methenyltetrahydrofolate cyclohydrolase activity methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity methylenetetrahydrofolate dehydrogenase (NAD+) activity methylenetetrahydrofolate dehydrogenase (NADP+) activity ATP binding cytoplasm mitochondrion cytosol purine nucleotide biosynthetic process methionine metabolic process one-carbon metabolic process heart development metabolic process cellular amino acid biosynthetic process serine family amino acid metabolic process serine family amino acid biosynthetic process methionine biosynthetic process purine nucleobase biosynthetic process 10-formyltetrahydrofolate biosynthetic process oxidoreductase activity hydrolase activity ligase activity transsulfuration tetrahydrofolate interconversion oxidation-reduction process somite development uc007nxz.1 uc007nxz.2 uc007nxz.3 uc007nxz.4 
ENSMUST00000021447.9 Ppp2r5e ENSMUST00000021447.9 protein phosphatase 2, regulatory subunit B', epsilon (from RefSeq NM_012024.3) 2A5E_MOUSE ENSMUST00000021447.1 ENSMUST00000021447.2 ENSMUST00000021447.3 ENSMUST00000021447.4 ENSMUST00000021447.5 ENSMUST00000021447.6 ENSMUST00000021447.7 ENSMUST00000021447.8 Kiaa4006 NM_012024 Q3V1I5 Q571M6 Q61151 Q8C2M2 uc007nxe.1 uc007nxe.2 The B regulatory subunit might modulate substrate selectivity and catalytic activity, and also might direct the localization of the catalytic enzyme to a particular subcellular compartment. Interacts with cyclin G in vitro. PP2A consists of a common heterodimeric core enzyme, composed of a 36 kDa catalytic subunit (subunit C) and a 65 kDa constant regulatory subunit (PR65 or subunit A), that associates with a variety of regulatory subunits. Proteins that associate with the core dimer include three families of regulatory subunits B (the R2/B/PR55/B55, R3/B''/PR72/PR130/PR59 and R5/B'/B56 families), the 48 kDa variable regulatory subunit, viral proteins, and cell signaling molecules. Interacts with SGO1. Found in a complex with at least ARL2, PPP2CB; PPP2R1A, PPP2R2A, PPP2R5E and TBCD (By similarity). Cytoplasm Belongs to the phosphatase 2A regulatory subunit B56 family. Sequence=AAB37234.1; Type=Frameshift; Evidence=; Sequence=BAD90335.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; protein phosphatase type 2A complex nucleus cytoplasm cytosol protein dephosphorylation signal transduction protein phosphatase regulator activity regulation of protein autophosphorylation regulation of phosphoprotein phosphatase activity protein phosphatase activator activity uc007nxe.1 uc007nxe.2 
ENSMUST00000021450.6 Sgpp1 ENSMUST00000021450.6 sphingosine-1-phosphate phosphatase 1 (from RefSeq NM_030750.3) ENSMUST00000021450.1 ENSMUST00000021450.2 ENSMUST00000021450.3 ENSMUST00000021450.4 ENSMUST00000021450.5 NM_030750 Q9JI99 SGPP1_MOUSE Sgpp1 Spp1 Spph1 uc007nxk.1 uc007nxk.2 uc007nxk.3 uc007nxk.4 Specifically dephosphorylates sphingosine 1-phosphate (S1P), dihydro-S1P, and phyto-S1P (PubMed:10859351, PubMed:11756451). Does not act on ceramide 1-phosphate, lysophosphatidic acid or phosphatidic acid. Sphingosine-1-phosphate phosphatase activity is needed for efficient recycling of sphingosine into the sphingolipid synthesis pathway. Regulates the intracellular levels of the bioactive sphingolipid metabolite S1P that regulates diverse biological processes acting both as an extracellular receptor ligand or as an intracellular second messenger (PubMed:10859351, Ref.2). Involved in efficient ceramide synthesis from exogenous sphingoid bases. Converts S1P to sphingosine, which is readily metabolized to ceramide via ceramide synthase (PubMed:12235122, PubMed:17895250). In concert with sphingosine kinase 2 (SphK2), recycles sphingosine into ceramide through a phosphorylation/dephosphorylation cycle (PubMed:17895250). Regulates endoplasmic-to-Golgi trafficking of ceramides, resulting in the regulation of ceramide levels in the endoplasmic reticulum, preferentially long-chain ceramide species, and influences the anterograde membrane transport of both ceramide and proteins from the endoplasmic reticulum to the Golgi apparatus (By similarity). The modulation of intracellular ceramide levels in turn regulates apoptosis (PubMed:12235122). Via S1P levels, modulates resting tone, intracellular Ca(2+) and myogenic vasoconstriction in resistance arteries. Also involved in unfolded protein response (UPR) and ER stress-induced autophagy via regulation of intracellular S1P levels (By similarity). Involved in the regulation of epidermal homeostasis and keratinocyte differentiation (PubMed:23637227). Reaction=H2O + sphinganine 1-phosphate = phosphate + sphinganine; Xref=Rhea:RHEA:27514, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57817, ChEBI:CHEBI:57939; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:27515; Evidence=; Reaction=H2O + sphing-4-enine 1-phosphate = phosphate + sphing-4-enine; Xref=Rhea:RHEA:27518, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57756, ChEBI:CHEBI:60119; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:27519; Evidence=; Inhibited by NaF, sodium orthovanadate, propanolol, and N-ethylmaleimide. Kinetic parameters: KM=38.5 uM for sphingosine 1-phosphate ; Vmax=36.4 nmol/min/mg enzyme for sphingosine 1-phosphate ; pH dependence: Optimum pH is 6-7.5. ; Endoplasmic reticulum membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein Note=Mainly found in intracellular membrane fractions. Highly expressed in liver and kidney. Expressed in epidermis, in the stratum granulosum and the stratum spinosum (PubMed:23637227). Mutants appear normal at birth, but during the first week of life they exhibit stunted growth and suffer desquamation, with most dying before weaning (PubMed:23637227). Their subcorneal layers, including the stratum granulosum, stratum spinosum, and stratum basale, are significantly thicker, whereas the stratum corneum is thinner than in wild-type mic (PubMed:23637227). Belongs to the type 2 lipid phosphate phosphatase family. nucleus nucleoplasm endoplasmic reticulum endoplasmic reticulum membrane plasma membrane sphingolipid metabolic process sphinganine-1-phosphate metabolic process sphingosine metabolic process membrane integral component of membrane dephosphorylation hydrolase activity ER to Golgi ceramide transport sphingosine-1-phosphate phosphatase activity regulation of keratinocyte differentiation regulation of epidermis development extrinsic apoptotic signaling pathway intrinsic apoptotic signaling pathway mitochondrion Golgi apparatus actin cytoskeleton uc007nxk.1 uc007nxk.2 uc007nxk.3 uc007nxk.4 
ENSMUST00000021458.13 Sptb ENSMUST00000021458.13 spectrin beta, erythrocytic (from RefSeq NM_013675.3) ENSMUST00000021458.1 ENSMUST00000021458.10 ENSMUST00000021458.11 ENSMUST00000021458.12 ENSMUST00000021458.2 ENSMUST00000021458.3 ENSMUST00000021458.4 ENSMUST00000021458.5 ENSMUST00000021458.6 ENSMUST00000021458.7 ENSMUST00000021458.8 ENSMUST00000021458.9 NM_013675 Q3UGX2 Q3UGX2_MOUSE Spnb1 Sptb uc007nyo.1 uc007nyo.2 Belongs to the spectrin family. actin binding structural constituent of cytoskeleton phospholipid binding cytoplasm Golgi apparatus cytosol cytoskeleton cytoskeleton organization spectrin spectrin-associated cytoskeleton ankyrin binding macromolecular complex actin filament binding actin filament capping uc007nyo.1 uc007nyo.2 
ENSMUST00000021459.14 Rab15 ENSMUST00000021459.14 RAB15, member RAS oncogene family, transcript variant 1 (from RefSeq NM_134050.5) ENSMUST00000021459.1 ENSMUST00000021459.10 ENSMUST00000021459.11 ENSMUST00000021459.12 ENSMUST00000021459.13 ENSMUST00000021459.2 ENSMUST00000021459.3 ENSMUST00000021459.4 ENSMUST00000021459.5 ENSMUST00000021459.6 ENSMUST00000021459.7 ENSMUST00000021459.8 ENSMUST00000021459.9 NM_134050 Q3TYH2 Q3TYH2_MOUSE Rab15 uc007nyt.1 uc007nyt.2 uc007nyt.3 uc007nyt.4 uc007nyt.5 Membrane ; Lipid- anchor ; Cytoplasmic side Belongs to the small GTPase superfamily. Rab family. GTPase activity GTP binding cytoplasm cilium endosome membrane Rab protein signal transduction perinuclear region of cytoplasm positive regulation of regulated secretory pathway uc007nyt.1 uc007nyt.2 uc007nyt.3 uc007nyt.4 uc007nyt.5 
ENSMUST00000021466.10 Atl1 ENSMUST00000021466.10 atlastin GTPase 1 (from RefSeq NM_178628.5) ATLA1_MOUSE ENSMUST00000021466.1 ENSMUST00000021466.2 ENSMUST00000021466.3 ENSMUST00000021466.4 ENSMUST00000021466.5 ENSMUST00000021466.6 ENSMUST00000021466.7 ENSMUST00000021466.8 ENSMUST00000021466.9 NM_178628 Q8BH66 Q8BJH5 Spg3a uc007nsy.1 uc007nsy.2 uc007nsy.3 uc007nsy.4 This gene encodes a member of the dynamin family of GTPases. The encoded protein interacts with tubule-shaping proteins of the endoplasmic reticulum. Mutations in the homologous human gene can cause hereditary spastic paraplegia. [provided by RefSeq, Feb 2010]. ##Evidence-Data-START## Transcript exon combination :: AK050339.1, SRR1660815.49663.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849380, SAMN00849381 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## GTPase tethering membranes through formation of trans- homooligomers and mediating homotypic fusion of endoplasmic reticulum membranes. Functions in endoplasmic reticulum tubular network biogenesis. May also regulate Golgi biogenesis. May regulate axonal development. Monomer as apoprotein and in the GDP-bound form. Homodimer in the GTP-bound form. Homooligomer. Interacts (via N-terminal region) with MAP4K4 (via CNH regulatory domain). Interacts with SPAST; interaction is direct (By similarity). Interacts with REEP5, RTN3 and probably RTN4 (via the transmembrane region) (PubMed:19665976). Interacts with REEP1. Interacts with CPT1C. Interacts with ARL6IP1 (By similarity). Interacts with ZFYVE27 (PubMed:24668814). Endoplasmic reticulum membrane ; Multi-pass membrane protein Golgi apparatus membrane ; Multi-pass membrane protein Cell projection, axon Note=Localizes to endoplasmic reticulum tubular network. Belongs to the TRAFAC class dynamin-like GTPase superfamily. GB1/RHD3 GTPase family. GB1 subfamily. Golgi cis cisterna Golgi membrane nucleotide binding GTPase activity protein binding GTP binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus endoplasmic reticulum organization axonogenesis membrane integral component of membrane hydrolase activity axon identical protein binding cell projection protein homooligomerization endoplasmic reticulum tubular network endoplasmic reticulum tubular network membrane endoplasmic reticulum tubular network membrane organization uc007nsy.1 uc007nsy.2 uc007nsy.3 uc007nsy.4 
ENSMUST00000021467.8 Sav1 ENSMUST00000021467.8 salvador family WW domain containing 1, transcript variant 1 (from RefSeq NM_022028.3) ENSMUST00000021467.1 ENSMUST00000021467.2 ENSMUST00000021467.3 ENSMUST00000021467.4 ENSMUST00000021467.5 ENSMUST00000021467.6 ENSMUST00000021467.7 NM_022028 Q8VEB2 Q9D9N9 Q9ER46 SAV1_MOUSE Ww45 Wwp3 uc007nte.1 uc007nte.2 uc007nte.3 uc007nte.4 Regulator of STK3/MST2 and STK4/MST1 in the Hippo signaling pathway which plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS1/2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. SAV1 is required for STK3/MST2 and STK4/MST1 activation and promotes cell-cycle exit and terminal differentiation in developing epithelial tissues. Plays a role in centrosome disjunction by regulating the localization of NEK2 to centrosomes, and its ability to phosphorylate CROCC and CEP250. In conjunction with STK3/MST2, activates the transcriptional activity of ESR1 through the modulation of its phosphorylation (By similarity). Homodimer. Stabilized through interaction with STK3/MST2 or STK4/MST1. Interacts (via SARAH domain) with isoform 1 of NEK2. Interacts with ESR1 only in the presence of STK3/MST2. Interacts with WTIP and AJUBA. Nucleus Cytoplasm Ubiquitously expressed in adult tissues with the highest level found in testis. Expression was detected in 7 dpc embryos. Expression levels decreased at day 11 and remained low at days 15 and 17. Phosphorylated by STK3/MST2 and STK4/MST1. Phosphorylation is not required for SAV1 stability and may increase the number of protein binding sites on the scaffold molecule (By similarity). Mice show progressive hepatomegaly with a 2-fold increase in liver mass relative to total body mass at 1 month of age and a 3-fold increase by 3 months of age. Embryos display unchecked proliferation and defects in terminal differentiation of epithelial cells. hair follicle development protein binding nucleus cytoplasm cytosol apoptotic process signal transduction keratinocyte differentiation hippo signaling regulation of cell proliferation identical protein binding positive regulation of apoptotic process positive regulation of fat cell differentiation regulation of organ growth negative regulation of epithelial cell proliferation protein stabilization positive regulation of sequence-specific DNA binding transcription factor activity negative regulation of cardiac muscle cell proliferation binding, bridging ventricular septum morphogenesis lung epithelial cell differentiation intestinal epithelial cell differentiation regulation of stem cell population maintenance uc007nte.1 uc007nte.2 uc007nte.3 uc007nte.4 
ENSMUST00000021471.13 Tmx1 ENSMUST00000021471.13 thioredoxin-related transmembrane protein 1 (from RefSeq NM_028339.1) ENSMUST00000021471.1 ENSMUST00000021471.10 ENSMUST00000021471.11 ENSMUST00000021471.12 ENSMUST00000021471.2 ENSMUST00000021471.3 ENSMUST00000021471.4 ENSMUST00000021471.5 ENSMUST00000021471.6 ENSMUST00000021471.7 ENSMUST00000021471.8 ENSMUST00000021471.9 NM_028339 Q3UCI8 Q8VBT0 Q9CSD5 TMX1_MOUSE Tmx1 Txndc Txndc1 uc007ntu.1 uc007ntu.2 uc007ntu.3 Thiredoxin domain-containing protein that participates in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions (PubMed:26246604). Acts as a key inhibitor of the alternative triglyceride biosynthesis pathway by inhibiting the activity of TMEM68/DIESL at the endoplasmic reticulum, thereby restricting accumulation of triacylglycerol (By similarity). The alternative triglyceride biosynthesis pathway mediates formation of triacylglycerol from diacylglycerol and membrane phospholipids (By similarity). Acts as a protein disulfide isomerase by catalyzing formation or reduction of disulfide bonds (PubMed:26246604). Specifically mediates formation of disulfide bonds of transmembrane proteins at the endoplasmic reticulum membrane (PubMed:26246604). Involved in ER-associated degradation (ERAD) via its protein disulfide isomerase activity by acting on folding-defective polypeptides at the endoplasmic reticulum membrane (By similarity). Acts as a negative regulator of platelet aggregation following secretion in the extracellular space (PubMed:30425049). Acts as a regulator of endoplasmic reticulum-mitochondria contact sites via its ability to regulate redox signals (By similarity). Regulates endoplasmic reticulum-mitochondria Ca(2+) flux (By similarity). Reaction=Catalyzes the rearrangement of -S-S- bonds in proteins.; EC=5.3.4.1; Evidence=; Interacts with ATP2A2. Endoplasmic reticulum membrane ; Single-pass type I membrane protein Mitochondrion membrane ; Single-pass type I membrane protein Secreted Note=Predominantly found in the endoplasmic reticulum. Secreted in the extracellular space following thrombin stimulation. Localizes to mitochondria-associated endoplasmic reticulum membrane (MAM); palmitoylation is required for MAM localization. Palmitoylated; palmitoylation is required for localization to mitochondria-associated endoplasmic reticulum membrane (MAM). Deficiency potentiates platelet function: mice display increased incorporation of platelets into a growing thrombus in an injury model, as well as shortened tail-bleeding times. endoplasmic reticulum endoplasmic reticulum membrane disulfide oxidoreductase activity membrane integral component of membrane response to endoplasmic reticulum stress cell redox homeostasis oxidation-reduction process uc007ntu.1 uc007ntu.2 uc007ntu.3 
ENSMUST00000021479.6 Actr10 ENSMUST00000021479.6 ARP10 actin-related protein 10 (from RefSeq NM_019785.2) ARP10_MOUSE Act11 Actr11 Arp10 Arp11 ENSMUST00000021479.1 ENSMUST00000021479.2 ENSMUST00000021479.3 ENSMUST00000021479.4 ENSMUST00000021479.5 NM_019785 Q3TT18 Q99LU1 Q9QZB7 uc007nty.1 uc007nty.2 uc007nty.3 uc007nty.4 Part of the dynactin complex that activates the molecular motor dynein for ultra-processive transport along microtubules. Subunit of dynactin, a multiprotein complex part of a tripartite complex with dynein and a adapter, such as BICDL1, BICD2 or HOOK3. The dynactin complex is built around ACTR1A/ACTB filament and consists of an actin-related filament composed of a shoulder domain, a pointed end and a barbed end. Its length is defined by its flexible shoulder domain. The soulder is composed of 2 DCTN1 subunits, 4 DCTN2 and 2 DCTN3. The 4 DCNT2 (via N-terminus) bind the ACTR1A filament and act as molecular rulers to determine the length. The pointed end is important for binding dynein-dynactin cargo adapters. Consists of 4 subunits: ACTR10, DCNT4, DCTN5 and DCTN6. The barbed end is composed of a CAPZA1:CAPZB heterodimers, which binds ACTR1A/ACTB filament and dynactin and stabilizes dynactin. Q9QZB7; P42025: ACTR1B; Xeno; NbExp=2; IntAct=EBI-367600, EBI-367493; Cytoplasm, cytoskeleton Belongs to the actin family. establishment of mitotic spindle orientation protein binding cytoplasm centrosome cytoskeleton dynactin complex microtubule-based movement nuclear migration along microtubule retrograde axonal transport of mitochondrion cell cortex region axon cytoplasm uc007nty.1 uc007nty.2 uc007nty.3 uc007nty.4 
ENSMUST00000021482.6 Tomm20l ENSMUST00000021482.6 translocase of outer mitochondrial membrane 20-like (from RefSeq NM_029227.1) ENSMUST00000021482.1 ENSMUST00000021482.2 ENSMUST00000021482.3 ENSMUST00000021482.4 ENSMUST00000021482.5 NM_029227 Q9D4V6 TO20L_MOUSE uc007nug.1 uc007nug.2 uc007nug.3 Mitochondrion outer membrane ; Single-pass membrane protein Belongs to the Tom20 family. mitochondrion mitochondrial outer membrane mitochondrial outer membrane translocase complex protein targeting intracellular protein transport P-P-bond-hydrolysis-driven protein transmembrane transporter activity membrane integral component of membrane tRNA import into mitochondrion protein import into mitochondrial matrix mitochondrion targeting sequence binding integral component of mitochondrial outer membrane mitochondrial outer membrane translocase complex assembly protein transmembrane transporter activity uc007nug.1 uc007nug.2 uc007nug.3 
ENSMUST00000021486.10 Timm9 ENSMUST00000021486.10 translocase of inner mitochondrial membrane 9, transcript variant 3 (from RefSeq NM_001024854.1) ENSMUST00000021486.1 ENSMUST00000021486.2 ENSMUST00000021486.3 ENSMUST00000021486.4 ENSMUST00000021486.5 ENSMUST00000021486.6 ENSMUST00000021486.7 ENSMUST00000021486.8 ENSMUST00000021486.9 NM_001024854 Q9WV98 TIM9_MOUSE Tim9 Tim9a Timm9a uc007nuj.1 uc007nuj.2 uc007nuj.3 Mitochondrial intermembrane chaperone that participates in the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane. May also be required for the transfer of beta-barrel precursors from the TOM complex to the sorting and assembly machinery (SAM complex) of the outer membrane. Acts as a chaperone-like protein that protects the hydrophobic precursors from aggregation and guide them through the mitochondrial intermembrane space (By similarity). Heterohexamer; composed of 3 copies of TIMM9 and 3 copies of TIMM10/TIM10A, named soluble 70 kDa complex. The complex forms a 6- bladed alpha-propeller structure and associates with the TIMM22 component of the TIM22 complex. Interacts with multi-pass transmembrane proteins in transit. Also forms a complex composed of TIMM9, TIMM10/TIM10A and FXC1/TIM10B (By similarity). Mitochondrion inner membrane ; Peripheral membrane protein ; Intermembrane side The twin CX3C motif contains 4 conserved Cys residues that form 2 disulfide bonds in the mitochondrial intermembrane space. However, during the transit of TIMM9 from cytoplasm into mitochondrion, the Cys residues probably coordinate zinc, thereby preventing folding and allowing its transfer across mitochondrial outer membrane (By similarity). Belongs to the small Tim family. mitochondrion mitochondrial inner membrane protein transport membrane mitochondrial intermembrane space protein transporter complex protein homodimerization activity protein import into mitochondrial inner membrane metal ion binding chaperone binding chaperone-mediated protein transport uc007nuj.1 uc007nuj.2 uc007nuj.3 
ENSMUST00000021490.12 Serpina1f ENSMUST00000021490.12 serine (or cysteine) peptidase inhibitor, clade A, member 1F, transcript variant 1 (from RefSeq NM_026687.2) ENSMUST00000021490.1 ENSMUST00000021490.10 ENSMUST00000021490.11 ENSMUST00000021490.2 ENSMUST00000021490.3 ENSMUST00000021490.4 ENSMUST00000021490.5 ENSMUST00000021490.6 ENSMUST00000021490.7 ENSMUST00000021490.8 ENSMUST00000021490.9 G3X9Z5 G3X9Z5_MOUSE NM_026687 Serpina1f uc007owd.1 uc007owd.2 uc007owd.3 uc007owd.4 Belongs to the serpin family. extracellular space uc007owd.1 uc007owd.2 uc007owd.3 uc007owd.4 
ENSMUST00000021494.6 Ccdc175 ENSMUST00000021494.6 coiled-coil domain containing 175 (from RefSeq NM_028687.1) CC175_MOUSE E9PVB3 ENSMUST00000021494.1 ENSMUST00000021494.2 ENSMUST00000021494.3 ENSMUST00000021494.4 ENSMUST00000021494.5 NM_028687 uc007nvh.1 uc007nvh.2 uc007nvh.3 uc007nvh.4 molecular_function cellular_component biological_process uc007nvh.1 uc007nvh.2 uc007nvh.3 uc007nvh.4 
ENSMUST00000021495.4 Serpina5 ENSMUST00000021495.4 serine (or cysteine) peptidase inhibitor, clade A, member 5 (from RefSeq NM_172953.3) ENSMUST00000021495.1 ENSMUST00000021495.2 ENSMUST00000021495.3 IPSP_MOUSE NM_172953 P70458 Pci Q5BKQ8 Q8BU50 uc007ows.1 uc007ows.2 Heparin-dependent serine protease inhibitor acting in body fluids and secretions. Inactivates serine proteases by binding irreversibly to their serine activation site. Involved in the regulation of intravascular and extravascular proteolytic activities. Plays hemostatic roles in the blood plasma. Acts as a procoagulant and pro-inflammatory factor by inhibiting the anticoagulant activated protein C factor as well as the generation of activated protein C factor by the thrombin/thrombomodulin complex. Acts as an anticoagulant factor by inhibiting blood coagulation factors like prothrombin, factor XI, factor Xa, plasma kallikrein and fibrinolytic enzymes such as tissue- and urinary-type plasminogen activators. In seminal plasma, inactivates several serine proteases implicated in the reproductive system. Inhibits the serpin acrosin; indirectly protects component of the male genital tract from being degraded by excessive released acrosin. Inhibits tissue- and urinary-type plasminogen activator, prostate-specific antigen and kallikrein activities; has a control on the sperm motility and fertilization. Inhibits the activated protein C- catalyzed degradation of SEMG1 and SEMG2; regulates the degradation of semenogelin during the process of transfer of spermatozoa from the male reproductive tract into the female tract. In urine, inhibits urinary- type plasminogen activator and kallikrein activities. Inactivates membrane-anchored serine proteases activities such as MPRSS7 and TMPRSS11E. Inhibits urinary-type plasminogen activator-dependent tumor cell invasion and metastasis. May also play a non-inhibitory role in seminal plasma and urine as a hydrophobic hormone carrier by its binding to retinoic acid (By similarity). Its inhibitory activity is greatly enhanced in the presence of glycosaminoglycans, heparin, thrombomodulin and phospholipids vesicles. Forms protease inhibiting heterodimers in extracellular body fluids with serine proteases such as activated protein C/coagulation factor V/F5, acrosin/ACR, chymotrypsinogen B/CTRB1, prothrombin/F2, factor Xa/F10, factor XI/F11, kallikrein/KLKB1, tissue kallikrein, trypsin/PRSS1, prostate specific antigen/KLK3, tissue plasminogen activator/PLAT and urinary plasminogen activator/PLAU. Forms membrane- anchored serine proteases inhibiting heterodimers with TMPRSS7 and TMPRSS11E. Interacts with SEMG2 (By similarity). P70458; Q5S248: Tmprss11e; NbExp=2; IntAct=EBI-490966, EBI-490889; Secreted, extracellular space Note=Localized on the plasma membrane overlying the acrosomal head of spermatozoa of ependymal spermatozoa and ejaculated sperm. Localized at the equatorial segment of acrosome-reacted spermatozoa. Localized in alpha granules in resting platelets and on the external plasma membrane and within the surface-connected cannalicular system in activated platelets (By similarity). Not detected in blood plasma (at protein level). Expressed in testis, epididymis, seminal vesicles, prostate and ovaries. The reactive center loop (RCL) extends out from the body of the protein and directs binding to the target protease. The protease cleaves the serpin at the reactive site within the RCL, establishing a covalent linkage between the carboxyl group of the serpin reactive site and the serine hydroxyl of the protease. The resulting inactive serpin- protease complex is highly stable (By similarity). N-glycosylated; glycans consist of a mixture of sialylated bi- (including sialyl-Lewis X epitopes), tri- and tetra-antennary complex-type chains; affects the maximal heparin- and thrombomodulin- enhanced rates of thrombin inhibition. O-glycosylated; further modified with 2 sialic acid residues. Proteolytically cleaved at the N-terminus; inhibits slightly the heparin- and thrombomodulin-enhanced rates of thrombin inhibition (By similarity). Proteolytically cleaved. Inhibition of proteases is accompanied by formation of a stable enzyme-inhibitor complex and by degradation of the serpin to lower molecular weight derivatives (By similarity). Mice are healthy but males are infertile; spermatozoa are morphologically abnormal, most lacked tails and malformed heads. The lumina of the seminiferous tubules are filled with cells in different stages of spermatogenesis and are sometimes necrotic. The cytoplasm of Sertoli cells contained vacuoles and appeared necrotic. The Sertoli cell barrier appeared disrupted. Belongs to the serpin family. According to PubMed:11120760 it is not detectable in blood plasma. retinoic acid binding protease binding acrosomal membrane serine-type endopeptidase inhibitor activity protein binding extracellular region extracellular space spermatogenesis external side of plasma membrane negative regulation of peptidase activity negative regulation of endopeptidase activity membrane peptidase inhibitor activity platelet alpha granule platelet dense tubular network phosphatidylcholine binding acrosin binding macromolecular complex protein C inhibitor-TMPRSS7 complex protein C inhibitor-TMPRSS11E complex protein C inhibitor-PLAT complex protein C inhibitor-PLAU complex protein C inhibitor-thrombin complex protein C inhibitor-KLK3 complex protein C inhibitor-plasma kallikrein complex negative regulation of proteolysis negative regulation of hydrolase activity extracellular exosome protein C inhibitor-coagulation factor V complex protein C inhibitor-coagulation factor Xa complex protein C inhibitor-coagulation factor XI complex uc007ows.1 uc007ows.2 
ENSMUST00000021497.16 Rtn1 ENSMUST00000021497.16 reticulon 1, transcript variant 2 (from RefSeq NM_001007596.2) ENSMUST00000021497.1 ENSMUST00000021497.10 ENSMUST00000021497.11 ENSMUST00000021497.12 ENSMUST00000021497.13 ENSMUST00000021497.14 ENSMUST00000021497.15 ENSMUST00000021497.2 ENSMUST00000021497.3 ENSMUST00000021497.4 ENSMUST00000021497.5 ENSMUST00000021497.6 ENSMUST00000021497.7 ENSMUST00000021497.8 ENSMUST00000021497.9 NM_001007596 Q7M6W1 Q7M6W1_MOUSE Rtn1 uc007nvj.1 uc007nvj.2 uc007nvj.3 uc007nvj.4 Inhibits amyloid precursor protein processing, probably by blocking BACE1 activity. Endoplasmic reticulum membrane ; Multi- pass membrane protein mbrane ; Multi-pass membrane protein endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane uc007nvj.1 uc007nvj.2 uc007nvj.3 uc007nvj.4 
ENSMUST00000021506.6 Serpina3n ENSMUST00000021506.6 serine (or cysteine) peptidase inhibitor, clade A, member 3N (from RefSeq NM_009252.2) ENSMUST00000021506.1 ENSMUST00000021506.2 ENSMUST00000021506.3 ENSMUST00000021506.4 ENSMUST00000021506.5 G3X8T9 G3X8T9_MOUSE NM_009252 Serpina3n uc007oxg.1 uc007oxg.2 uc007oxg.3 Belongs to the serpin family. extracellular space uc007oxg.1 uc007oxg.2 uc007oxg.3 
ENSMUST00000021512.11 Dhrs7 ENSMUST00000021512.11 dehydrogenase/reductase 7 (from RefSeq NM_025522.5) DHRS7_MOUSE Dhrs7 ENSMUST00000021512.1 ENSMUST00000021512.10 ENSMUST00000021512.2 ENSMUST00000021512.3 ENSMUST00000021512.4 ENSMUST00000021512.5 ENSMUST00000021512.6 ENSMUST00000021512.7 ENSMUST00000021512.8 ENSMUST00000021512.9 NM_025522 Q9CXR1 Retsdr4 uc007nvs.1 uc007nvs.2 uc007nvs.3 uc007nvs.4 NADPH-dependent oxidoreductase which catalyzes the reduction of a variety of compounds bearing carbonyl groups including steroids, retinoids and xenobiotics. Catalyzes the reduction/inactivation of 5alpha-dihydrotestosterone to 3alpha-androstanediol, with a possible role in the modulation of androgen receptor function. Involved in the reduction of all-trans-retinal to all-trans-retinol. Converts cortisone to 20beta-dihydrocortisone in vitro, although the physiological relevance of this activity is questionable. Reduces exogenous compounds such as quinones (1,2-naphtoquinone, 9,10-phenantrenequinone and benzoquinone) and other xenobiotics (alpha-diketones) in vitro, suggesting a role in the biotransformation of xenobiotics with carbonyl group. A dehydrogenase activity has not been detected so far. May play a role as tumor suppressor. Reaction=all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH; Xref=Rhea:RHEA:25033, ChEBI:CHEBI:15378, ChEBI:CHEBI:17336, ChEBI:CHEBI:17898, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:25035; Evidence=; Reaction=5alpha-androstane-3alpha,17beta-diol + NADP(+) = 17beta- hydroxy-5alpha-androstan-3-one + H(+) + NADPH; Xref=Rhea:RHEA:42116, ChEBI:CHEBI:15378, ChEBI:CHEBI:16330, ChEBI:CHEBI:36713, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:42118; Evidence=; Endoplasmic reticulum membrane Note=Bound to the endoplasmic reticulum membrane, possibly through a N-terminus anchor. The main bulk of the polypeptide chain was first reported to be facing toward the lumen of the endoplasmic reticulum. However, it was later shown to be facing the cytosol. Belongs to the short-chain dehydrogenases/reductases (SDR) family. DHRS7 was originally reported to be anchored in the endoplasmic reticulum membrane and facing the lumen (By similarity). However, the catalytic moiety was later shown to be facing the cytosol (By similarity). Sequence=AAH16189.1; Type=Erroneous initiation; Evidence=; Sequence=BAB29156.1; Type=Frameshift; Evidence=; biological_process oxidoreductase activity oxidation-reduction process uc007nvs.1 uc007nvs.2 uc007nvs.3 uc007nvs.4 
ENSMUST00000021513.6 Gsc ENSMUST00000021513.6 goosecoid homeobox (from RefSeq NM_010351.1) ENSMUST00000021513.1 ENSMUST00000021513.2 ENSMUST00000021513.3 ENSMUST00000021513.4 ENSMUST00000021513.5 GSC_MOUSE NM_010351 Q02591 uc007oxh.1 uc007oxh.2 uc007oxh.3 Regulates chordin (CHRD). May play a role in spatial programing within discrete embryonic fields or lineage compartments during organogenesis (By similarity). In concert with NKX3-2, plays a role in defining the structural components of the middle ear; required for the development of the entire tympanic ring. Goosecoid-expressing regions of the gastrulating mouse egg cylinder have organizer-like activity when transplanted into Xenopus embryos. Probably involved in the regulatory networks that define neural crest cell fate specification and determine mesoderm cell lineages in mammals (By similarity). Q02591; O88621: Foxh1; NbExp=2; IntAct=EBI-7457485, EBI-7457430; Q02591; O09106: Hdac1; NbExp=2; IntAct=EBI-7457485, EBI-301912; Nucleus. In early gastrulation, expressed in the dorsal lip. In later stages of development found in head, limbs and body wall. In the embryo, expressed in the postotic cranial neural crest cells, the frontonasal prominence, the first branchial arch and cleft, and specific regions of large joints. By activin. Belongs to the paired homeobox family. Bicoid subfamily. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II transcription factor binding RNA polymerase II repressing transcription factor binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding protein binding nucleus transcription factor complex regulation of transcription, DNA-templated multicellular organism development anatomical structure morphogenesis neural crest cell fate specification nuclear body dorsal/ventral neural tube patterning signal transduction involved in regulation of gene expression negative regulation of Wnt signaling pathway forebrain development middle ear morphogenesis sequence-specific DNA binding ear development muscle organ morphogenesis embryonic skeletal system morphogenesis uc007oxh.1 uc007oxh.2 uc007oxh.3 
ENSMUST00000021514.10 Ppm1a ENSMUST00000021514.10 protein phosphatase 1A, magnesium dependent, alpha isoform (from RefSeq NM_008910.3) ENSMUST00000021514.1 ENSMUST00000021514.2 ENSMUST00000021514.3 ENSMUST00000021514.4 ENSMUST00000021514.5 ENSMUST00000021514.6 ENSMUST00000021514.7 ENSMUST00000021514.8 ENSMUST00000021514.9 NM_008910 P49443 PPM1A_MOUSE Pppm1a uc007nvu.1 uc007nvu.2 uc007nvu.3 uc007nvu.4 Enzyme with a broad specificity. Negatively regulates TGF- beta signaling through dephosphorylating SMAD2 and SMAD3, resulting in their dissociation from SMAD4, nuclear export of the SMADs and termination of the TGF-beta-mediated signaling (By similarity). Dephosphorylates PRKAA1 and PRKAA2. Plays an important role in the termination of TNF-alpha-mediated NF-kappa-B activation through dephosphorylating and inactivating IKBKB/IKKB. Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16; Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA- COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Binds 2 magnesium or manganese ions per subunit.; Monomer (By similarity). Interacts with SMAD2; the interaction dephosphorylates SMAD2 in its C-terminal SXS motif resulting in disruption of the SMAD2/SMAD4 complex, SMAD2 nuclear export and termination of the TGF-beta-mediated signaling. Interacts with SMAD2; the interaction dephosphorylates SMAD2 in its C-terminal SXS motif resulting in disruption of the SMAD2/SMAD4 complex, SMAD2 nuclear export and termination of the TGF-beta-mediated signaling (By similarity). Interacts with the phosphorylated form of IKBKB/IKKB (By similarity). Nucleus Cytoplasm, cytosol mbrane ; Lipid-anchor Note=Weakly associates at the membrane and N-myristoylation mediates the membrane localization. N-myristoylation is essential for the recognition of its substrates for dephosphorylation. Belongs to the PP2C family. magnesium ion binding catalytic activity phosphoprotein phosphatase activity protein serine/threonine phosphatase activity magnesium-dependent protein serine/threonine phosphatase activity nucleus cytoplasm cytosol plasma membrane protein dephosphorylation N-terminal protein myristoylation protein C-terminus binding negative regulation of SMAD protein complex assembly membrane dephosphorylation hydrolase activity manganese ion binding negative regulation of transforming growth factor beta receptor signaling pathway negative regulation of BMP signaling pathway calmodulin-dependent protein phosphatase activity peptidyl-threonine dephosphorylation neuron projection negative regulation of I-kappaB kinase/NF-kappaB signaling cation binding ion channel binding positive regulation of transcription, DNA-templated positive regulation of protein export from nucleus metal ion binding R-SMAD binding cellular response to transforming growth factor beta stimulus positive regulation of canonical Wnt signaling pathway negative regulation of NIK/NF-kappaB signaling uc007nvu.1 uc007nvu.2 uc007nvu.3 uc007nvu.4 
ENSMUST00000021519.7 Six6 ENSMUST00000021519.7 sine oculis-related homeobox 6 (from RefSeq NM_011384.5) ENSMUST00000021519.1 ENSMUST00000021519.2 ENSMUST00000021519.3 ENSMUST00000021519.4 ENSMUST00000021519.5 ENSMUST00000021519.6 NM_011384 O88423 Optx2 Q9QZ28 SIX6_MOUSE Six9 uc007nvy.1 uc007nvy.2 uc007nvy.3 uc007nvy.4 This gene encodes a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 12 and is thought to be involved in eye development. The encoded transcription factor regulates early progenitor cell proliferation during mammalian retinogenesis and pituitary development. Mice lacking this gene exhibit abnormal development of the suprachiasmatic nucleus and circadian rhythms. [provided by RefSeq, Sep 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK029309.1, BC138838.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164138 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May be involved in eye development. Interacts with TLE4 and TLE5. Nucleus In the developing embryo, expressed mainly in the ventral optic stalk, optic chiasma, the neural retina and the primordial tissues that give rise to the pituitary/hypothalamus axis. Not expressed in the lens placode. Expression is first detected in the embryo at 8 dpc. Belongs to the SIX/Sine oculis homeobox family. transcription regulatory region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding eye development DNA binding protein binding nucleus transcription factor complex regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development negative regulation of transcription, DNA-templated anatomical structure development uc007nvy.1 uc007nvy.2 uc007nvy.3 uc007nvy.4 
ENSMUST00000021522.5 Glrx5 ENSMUST00000021522.5 glutaredoxin 5 (from RefSeq NM_028419.3) ENSMUST00000021522.1 ENSMUST00000021522.2 ENSMUST00000021522.3 ENSMUST00000021522.4 GLRX5_MOUSE NM_028419 Q3YML1 Q80Y14 Q9D6E9 uc007oxu.1 uc007oxu.2 uc007oxu.3 uc007oxu.4 This gene encodes a mitochondrial protein, which is evolutionarily conserved. It is involved in the biogenesis of iron-sulfur clusters, which are required for normal iron homeostasis. Mutations in the human gene are associated with autosomal recessive pyridoxine-refractory sideroblastic anemia. [provided by RefSeq, Sep 2015]. ##Evidence-Data-START## Transcript exon combination :: AK013761.1, AK050883.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Monothiol glutaredoxin involved in mitochondrial iron-sulfur (Fe/S) cluster transfer (PubMed:19442627). Receives 2Fe/2S clusters from scaffold protein ISCU and mediates their transfer to apoproteins, to the 4Fe/FS cluster biosynthesis machinery, or export from mitochondrion (By similarity). Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1 (By similarity). Homodimer. Interacts with ISCU. Interacts with BOLA1. Mitochondrion matrix Detected in bone, liver, muscle and kidney. Ubiquitously expressed at 7.5 dpc. At 8.5 dpc, preferential expression in yolk sac blood islands. Progressive down- regulation in maturing primitive red cells between 10.5 and 12.5 dpc. High expression in fetal liver at 12.5 dpc. Belongs to the glutaredoxin family. Monothiol subfamily. Sequence=AAH50937.1; Type=Erroneous initiation; Evidence=; nucleus mitochondrion mitochondrial matrix electron carrier activity protein lipoylation protein disulfide oxidoreductase activity disulfide oxidoreductase activity electron transport chain hemopoiesis dendrite neuronal cell body cell redox homeostasis metal ion binding iron-sulfur cluster binding 2 iron, 2 sulfur cluster binding oxidation-reduction process uc007oxu.1 uc007oxu.2 uc007oxu.3 uc007oxu.4 
ENSMUST00000021523.7 Mnat1 ENSMUST00000021523.7 menage a trois 1 (from RefSeq NM_008612.2) ENSMUST00000021523.1 ENSMUST00000021523.2 ENSMUST00000021523.3 ENSMUST00000021523.4 ENSMUST00000021523.5 ENSMUST00000021523.6 MAT1_MOUSE Mat1 NM_008612 P51949 Q14BS9 Q3TZP0 Q9D8A0 Q9D8D2 uc007nwe.1 uc007nwe.2 Stabilizes the cyclin H-CDK7 complex to form a functional CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. Associates primarily with CDK7 and cyclin H to form the CAK complex. CAK can further associate with the core-TFIIH to form the TFIIH basal transcription factor. Nucleus regulation of cyclin-dependent protein serine/threonine kinase activity G1/S transition of mitotic cell cycle protein binding nucleus nucleoplasm holo TFIIH complex cytosol nucleotide-excision repair regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter protein phosphorylation cell cycle adult heart development DNA-dependent ATPase activity RNA polymerase II carboxy-terminal domain kinase activity cyclin-dependent protein kinase activating kinase holoenzyme complex ventricular system development negative regulation of apoptotic process positive regulation of cyclin-dependent protein serine/threonine kinase activity positive regulation of transcription from RNA polymerase II promoter metal ion binding protein N-terminus binding positive regulation of smooth muscle cell proliferation response to calcium ion cyclin-dependent protein serine/threonine kinase activator activity negative regulation of DNA helicase activity uc007nwe.1 uc007nwe.2 
ENSMUST00000021527.15 Prkch ENSMUST00000021527.15 protein kinase C, eta, transcript variant 1 (from RefSeq NM_008856.4) ENSMUST00000021527.1 ENSMUST00000021527.10 ENSMUST00000021527.11 ENSMUST00000021527.12 ENSMUST00000021527.13 ENSMUST00000021527.14 ENSMUST00000021527.2 ENSMUST00000021527.3 ENSMUST00000021527.4 ENSMUST00000021527.5 ENSMUST00000021527.6 ENSMUST00000021527.7 ENSMUST00000021527.8 ENSMUST00000021527.9 KPCL_MOUSE NM_008856 P23298 Pkch Q8K2K8 uc007nwn.1 uc007nwn.2 uc007nwn.3 uc007nwn.4 uc007nwn.5 Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in the human gene are associated with susceptibility to cerebral infarction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. Calcium-independent, phospholipid- and diacylglycerol (DAG)- dependent serine/threonine-protein kinase that is involved in the regulation of cell differentiation in keratinocytes and pre-B cell receptor, mediates regulation of epithelial tight junction integrity and foam cell formation, and is required for glioblastoma proliferation and apoptosis prevention in MCF-7 cells. In keratinocytes, binds and activates the tyrosine kinase FYN, which in turn blocks epidermal growth factor receptor (EGFR) signaling and leads to keratinocyte growth arrest and differentiation. Associates with the cyclin CCNE1- CDK2-CDKN1B complex and inhibits CDK2 kinase activity, leading to RB1 dephosphorylation and thereby G1 arrest in keratinocytes. In association with RALA activates actin depolymerization, which is necessary for keratinocyte differentiation. In the pre-B cell receptor signaling, functions downstream of BLNK by up-regulating IRF4, which in turn activates L chain gene rearrangement. Regulates epithelial tight junctions (TJs) by phosphorylating occludin (OCLN) on threonine residues, which is necessary for the assembly and maintenance of TJs. In association with PLD2 and via TLR4 signaling, is involved in lipopolysaccharide (LPS)-induced RGS2 down-regulation and foam cell formation. Upon PMA stimulation, mediates glioblastoma cell proliferation by activating the mTOR pathway, the PI3K/AKT pathway and the ERK1-dependent phosphorylation of ELK1. Involved in the protection of glioblastoma cells from irradiation-induced apoptosis by preventing caspase-9 activation. In camptothecin-treated MCF-7 cells, regulates NF-kappa-B upstream signaling by activating IKBKB, and confers protection against DNA damage-induced apoptosis. Promotes oncogenic functions of ATF2 in the nucleus while blocking its apoptotic function at mitochondria. Phosphorylates ATF2 which promotes its nuclear retention and transcriptional activity and negatively regulates its mitochondrial localization. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.13; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.13; Novel PKCs (PRKCD, PRKCE, PRKCH and PRKCQ) are calcium-insensitive, but activated by diacylglycerol (DAG) and phosphatidylserine. Three specific sites; Thr-513 (activation loop of the kinase domain), Thr-656 (turn motif) and Ser-675 (hydrophobic region), need to be phosphorylated for its full activation. Interacts with FYN (PubMed:11106751). Interacts with RALA (PubMed:21346190). Interacts with DGKQ (By similarity). Cytoplasm te=Associates with cell membrane during keratinocytes differentiation. Predominantly expressed in lung and skin. The C1 domain, containing the phorbol ester/DAG-type region 1 (C1A) and 2 (C1B), is the diacylglycerol sensor and the C2 domain is a non-calcium binding domain. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. PKC subfamily. nucleotide binding protein kinase activity protein serine/threonine kinase activity protein kinase C activity calcium-independent protein kinase C activity protein binding ATP binding cytoplasm cytosol plasma membrane cell-cell junction protein phosphorylation positive regulation of macrophage derived foam cell differentiation membrane kinase activity phosphorylation transferase activity Ral GTPase binding peptidyl-serine phosphorylation enzyme binding cell differentiation negative regulation of glial cell apoptotic process intracellular signal transduction positive regulation of keratinocyte differentiation metal ion binding positive regulation of B cell receptor signaling pathway positive regulation of NF-kappaB transcription factor activity positive regulation of glial cell proliferation protein kinase C signaling regulation of bicellular tight junction assembly uc007nwn.1 uc007nwn.2 uc007nwn.3 uc007nwn.4 uc007nwn.5 
ENSMUST00000021530.8 Hif1a ENSMUST00000021530.8 hypoxia inducible factor 1, alpha subunit, transcript variant 2 (from RefSeq NM_010431.3) ENSMUST00000021530.1 ENSMUST00000021530.2 ENSMUST00000021530.3 ENSMUST00000021530.4 ENSMUST00000021530.5 ENSMUST00000021530.6 ENSMUST00000021530.7 HIF1A_MOUSE NM_010431 O08741 O08993 Q61221 Q61664 Q61665 Q8C681 Q8CC19 Q8CCB6 Q8R385 Q9CYA8 uc007nwq.1 uc007nwq.2 uc007nwq.3 uc007nwq.4 uc007nwq.5 This gene encodes the alpha subunit which, along with the beta subunit, forms a heterodimeric transcription factor that regulates the cellular and developmental response to reduced oxygen tension. The transcription factor has been shown to regulate genes involved in several biological processes, including erythropoiesis and angiogenesis which aid in increased delivery of oxygen to hypoxic regions. The transcription factor also plays a role in the induction of genes involved in cell proliferation and survival, energy metabolism, apoptosis, and glucose and iron metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2015]. Functions as a master transcriptional regulator of the adaptive response to hypoxia (PubMed:15225651, PubMed:17981124, PubMed:22009797). Under hypoxic conditions, activates the transcription of over 40 genes, including erythropoietin, glucose transporters, glycolytic enzymes, vascular endothelial growth factor, HILPDA, and other genes whose protein products increase oxygen delivery or facilitate metabolic adaptation to hypoxia (PubMed:15225651, PubMed:17981124, PubMed:22009797). Plays an essential role in embryonic vascularization, tumor angiogenesis and pathophysiology of ischemic disease (PubMed:22009797). Heterodimerizes with ARNT; heterodimer binds to core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (PubMed:26245371). Activation requires recruitment of transcriptional coactivators such as CREBBP and EP300. Activity is enhanced by interaction with NCOA1 and/or NCOA2. Interaction with redox regulatory protein APEX1 seems to activate CTAD and potentiates activation by NCOA1 and CREBBP. Involved in the axonal distribution and transport of mitochondria in neurons during hypoxia (By similarity). Induced by reactive oxygen species (ROS). Interacts with the ARNT; forms a heterodimer that binds core DNA sequence 5'-TACGTG-3' within the hypoxia response element (HRE) of target gene promoters (PubMed:26245371). Interacts with COPS5; the interaction increases the transcriptional activity of HIF1A through increased stability (PubMed:11707426). Interacts with EP300 (via TAZ- type 1 domains); the interaction is stimulated in response to hypoxia and inhibited by CITED2. Interacts with CREBBP (via TAZ-type 1 domains). Interacts with NCOA1, NCOA2, APEX1 and HSP90. Interacts (hydroxylated within the ODD domain) with VHLL (via beta domain); the interaction, leads to polyubiquitination and subsequent HIF1A proteasomal degradation. During hypoxia, sumoylated HIF1A also binds VHL; the interaction promotes the ubiquitination of HIF1A (By similarity). Interacts with SENP1; the interaction desumoylates HIF1A resulting in stabilization and activation of transcription (PubMed:17981124). Interacts (via the ODD domain) with NAA10; the interaction appears not to acetylate HIF1A nor have any affect on protein stability, during hypoxia. Interacts with RWDD3; the interaction enhances HIF1A sumoylation (By similarity). Interacts with TSGA10 (PubMed:16777103). Interacts with HIF3A (PubMed:21546903). Interacts with RORA (via the DNA binding domain); the interaction enhances HIF1A transcription under hypoxia through increasing protein stability. Interaction with PSMA7 inhibits the transactivation activity of HIF1A under both normoxic and hypoxia-mimicking conditions. Interacts with USP20. Interacts with RACK1; promotes HIF1A ubiquitination and proteasome-mediated degradation. Interacts (via N- terminus) with USP19. Interacts with SIRT2. Interacts (deacetylated form) with EGLN1. Interacts with CBFA2T3. Interacts with HSP90AA1 and HSP90AB1. Interacts with DCUN1D1; this interaction increases the interaction between VHL and DCUN1D1. Interacts with HIF1AN (By similarity). Q61221; P35583: Foxa2; NbExp=5; IntAct=EBI-298954, EBI-2893341; Q61221; Q8BIF2: Rbfox3; NbExp=2; IntAct=EBI-298954, EBI-4567146; Q61221; P51450-2: Rorc; NbExp=2; IntAct=EBI-298954, EBI-4422078; Q61221; Q09472: EP300; Xeno; NbExp=2; IntAct=EBI-298954, EBI-447295; Q61221; P40337: VHL; Xeno; NbExp=2; IntAct=EBI-298954, EBI-301246; Q61221-1; P53762: Arnt; NbExp=5; IntAct=EBI-8549331, EBI-78852; Q61221-1; Q6NY15: Tsga10; NbExp=2; IntAct=EBI-8549331, EBI-8549230; Cytoplasm Nucleus Nucleus speckle Note=Colocalizes with HIF3A isoform 2 in the nucleus and speckles (PubMed:21546903). Cytoplasmic in normoxia, nuclear translocation in response to hypoxia (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q61221-1; Sequence=Displayed; Name=2; IsoId=Q61221-2; Sequence=VSP_007739; Ubiquitous. Contains two independent C-terminal transactivation domains, NTAD and CTAD, which function synergistically. Their transcriptional activity is repressed by an intervening inhibitory domain (ID) (By similarity). S-nitrosylation of Cys-810 may be responsible for increased recruitment of p300 coactivator necessary for transcriptional activity of HIF-1 complex. Requires phosphorylation for DNA-binding. Phosphorylation at Ser- 247 by CSNK1D/CK1 represses kinase activity and impairs ARNT binding (By similarity). Phosphorylation by GSK3-beta and PLK3 promote degradation by the proteasome (PubMed:20889502). Sumoylated; with SUMO1 under hypoxia (PubMed:15225651, PubMed:17981124). Sumoylation is enhanced through interaction with RWDD3 (By similarity). Both sumoylation and desumoylation seem to be involved in the regulation of its stability during hypoxia (PubMed:15225651, PubMed:17981124). Sumoylation can promote either its stabilization or its VHL-dependent degradation by promoting hydroxyproline-independent HIF1A-VHL complex binding, thus leading to HIF1A ubiquitination and proteasomal degradation (By similarity). Desumoylation by SENP1 increases its stability amd transcriptional activity (PubMed:17981124). There is a disaccord between various publications on the effect of sumoylation and desumoylation on its stability and transcriptional activity (Probable). Acetylation of Lys-545 by ARD1 increases interaction with VHL and stimulates subsequent proteasomal degradation (By similarity). Deacetylation of Lys-719 by SIRT2 increases its interaction with and hydroxylation by EGLN1 thereby inactivating HIF1A activity by inducing its proteasomal degradation (By similarity). Ubiquitinated; in normoxia, following hydroxylation and interaction with VHL. Lys-545 appears to be the principal site of ubiquitination. Clioquinol, the Cu/Zn-chelator, inhibits ubiquitination through preventing hydroxylation at Asn-813. Ubiquitinated by E3 ligase VHL. Deubiquitinated by UCHL1 (By similarity). The iron and 2-oxoglutarate dependent 3-hydroxylation of asparagine is (S) stereospecific within HIF CTAD domains. In normoxia, is hydroxylated on Pro-402 and Pro-577 in the oxygen- dependent degradation domain (ODD) by EGLN1/PHD2 and EGLN2/PHD1. EGLN3/PHD3 has also been shown to hydroxylate Pro-577. The hydroxylated prolines promote interaction with VHL, initiating rapid ubiquitination and subsequent proteasomal degradation. Deubiquitinated by USP20. Under hypoxia, proline hydroxylation is impaired and ubiquitination is attenuated, resulting in stabilization (By similarity). In normoxia, is hydroxylated on Asn-813 by HIF1AN, thus abrogating interaction with CREBBP and EP300 and preventing transcriptional activation. Repressed by iron ion, via Fe(2+) prolyl hydroxylase (PHD) enzymes-mediated hydroxylation and subsequent proteasomal degradation. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding angiogenesis blood vessel development response to hypoxia neural crest cell migration epithelial to mesenchymal transition embryonic placenta development B-1 B cell homeostasis vasculature development heart looping p53 binding positive regulation of neuroblast proliferation connective tissue replacement involved in inflammatory response wound healing outflow tract morphogenesis cardiac ventricle morphogenesis DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex cytoplasm cytosol lactate metabolic process regulation of glycolytic process regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter cellular iron ion homeostasis signal transduction lactation transcription factor binding positive regulation of cell proliferation visual learning response to iron ion regulation of gene expression positive regulation of autophagy vascular endothelial growth factor production positive regulation of vascular endothelial growth factor production positive regulation of gene expression negative regulation of gene expression positive regulation of epithelial cell migration positive regulation of receptor biosynthetic process response to muscle activity positive regulation of macroautophagy nuclear body nuclear speck axonal transport of mitochondrion enzyme binding protein kinase binding protein domain specific binding neural fold elevation formation cerebral cortex development cell differentiation negative regulation of ossification negative regulation of bone mineralization positive regulation of vascular endothelial growth factor receptor signaling pathway motile cilium ubiquitin protein ligase binding negative regulation of TOR signaling oxygen homeostasis regulation of transforming growth factor beta2 production collagen metabolic process macromolecular complex histone acetyltransferase binding embryonic hemopoiesis nuclear hormone receptor binding positive regulation of insulin secretion involved in cellular response to glucose stimulus regulation of cell proliferation hemoglobin biosynthetic process glucose homeostasis histone deacetylase binding positive regulation of apoptotic process negative regulation of apoptotic process negative regulation of neuron apoptotic process positive regulation of blood vessel endothelial cell migration sequence-specific DNA binding regulation of transcription from RNA polymerase II promoter in response to oxidative stress macromolecular complex binding positive regulation of erythrocyte differentiation positive regulation of gluconeogenesis positive regulation of angiogenesis positive regulation of transcription, DNA-templated negative regulation of vasoconstriction negative regulation of growth positive regulation of transcription from RNA polymerase II promoter muscle cell cellular homeostasis positive regulation of hormone biosynthetic process protein heterodimerization activity protein dimerization activity blood vessel morphogenesis digestive tract morphogenesis camera-type eye morphogenesis positive regulation of smooth muscle cell proliferation regulation of catalytic activity cartilage development elastin metabolic process Hsp90 protein binding intestinal epithelial cell maturation response to fungicide epithelial cell differentiation involved in mammary gland alveolus development iris morphogenesis retina vasculature development in camera-type eye positive regulation of transcription from RNA polymerase II promoter in response to hypoxia regulation of thymocyte apoptotic process negative regulation of thymocyte apoptotic process E-box binding cellular response to interleukin-1 cellular response to hypoxia dopaminergic neuron differentiation RNA polymerase II transcription factor complex hypoxia-inducible factor-1alpha signaling pathway positive regulation of pri-miRNA transcription from RNA polymerase II promoter negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway positive regulation of mitophagy regulation of aerobic respiration axon cytoplasm negative regulation of reactive oxygen species metabolic process negative regulation of mesenchymal cell apoptotic process uc007nwq.1 uc007nwq.2 uc007nwq.3 uc007nwq.4 uc007nwq.5 
ENSMUST00000021532.6 Snapc1 ENSMUST00000021532.6 small nuclear RNA activating complex, polypeptide 1, transcript variant 7 (from RefSeq NR_184684.1) ENSMUST00000021532.1 ENSMUST00000021532.2 ENSMUST00000021532.3 ENSMUST00000021532.4 ENSMUST00000021532.5 NR_184684 Q8K0S9 SNPC1_MOUSE uc007nwt.1 uc007nwt.2 uc007nwt.3 Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box (By similarity). Part of the SNAPc complex composed of 5 subunits: SNAPC1, SNAPC2, SNAPC3, SNAPC4 and SNAPC5. SNAPC1 interacts with SNAPC3, SNAPC4 and TBP (By similarity). Nucleus DNA binding nucleus nucleolus snRNA-activating protein complex snRNA transcription from RNA polymerase II promoter snRNA transcription from RNA polymerase III promoter sequence-specific DNA binding uc007nwt.1 uc007nwt.2 uc007nwt.3 
ENSMUST00000021536.9 Atp6v1d ENSMUST00000021536.9 ATPase, H+ transporting, lysosomal V1 subunit D (from RefSeq NM_023721.2) Atp6v1d ENSMUST00000021536.1 ENSMUST00000021536.2 ENSMUST00000021536.3 ENSMUST00000021536.4 ENSMUST00000021536.5 ENSMUST00000021536.6 ENSMUST00000021536.7 ENSMUST00000021536.8 NM_023721 Q3U861 Q3U861_MOUSE uc007nzj.1 uc007nzj.2 uc007nzj.3 Cell projection, cilium Cytoplasmic vesicle, clathrin-coated vesicle membrane ; Peripheral membrane protein Belongs to the V-ATPase D subunit family. centrosome cilium membrane proton-transporting V-type ATPase complex ATPase activity, coupled to transmembrane movement of substances transmembrane transport cilium assembly protein localization to cilium uc007nzj.1 uc007nzj.2 uc007nzj.3 
ENSMUST00000021544.8 Plek2 ENSMUST00000021544.8 pleckstrin 2 (from RefSeq NM_013738.3) ENSMUST00000021544.1 ENSMUST00000021544.2 ENSMUST00000021544.3 ENSMUST00000021544.4 ENSMUST00000021544.5 ENSMUST00000021544.6 ENSMUST00000021544.7 NM_013738 PLEK2_MOUSE Q9WV52 uc007nzl.1 uc007nzl.2 uc007nzl.3 uc007nzl.4 May help orchestrate cytoskeletal arrangement. Contribute to lamellipodia formation. Overexpression of pleckstrin 2 causes large lamellipodia and peripheral ruffle formation. Cell projection, lamellipodium membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton. Ubiquitous. Most abundant in the thymus, large bowel, small bowel, stomach, and prostate. cytoplasm cytoskeleton plasma membrane membrane actin cytoskeleton organization lamellipodium membrane positive regulation of cell projection organization actin cytoskeleton reorganization phosphatidylinositol-3-phosphate binding intracellular signal transduction cell projection phosphatidylinositol-3,4-bisphosphate binding phosphatidylinositol-3,5-bisphosphate binding uc007nzl.1 uc007nzl.2 uc007nzl.3 uc007nzl.4 
ENSMUST00000021547.8 Zfyve26 ENSMUST00000021547.8 zinc finger, FYVE domain containing 26 (from RefSeq NM_001008550.1) B9EJ71 ENSMUST00000021547.1 ENSMUST00000021547.2 ENSMUST00000021547.3 ENSMUST00000021547.4 ENSMUST00000021547.5 ENSMUST00000021547.6 ENSMUST00000021547.7 Kiaa0321 NM_001008550 Q3TEM9 Q3V1N3 Q5DU37 Q8BY74 Q8CDR8 Q923B4 ZFY26_MOUSE uc007oae.1 uc007oae.2 uc007oae.3 Phosphatidylinositol 3-phosphate-binding protein required for the abcission step in cytokinesis: recruited to the midbody during cytokinesis and acts as a regulator of abcission. May also be required for efficient homologous recombination DNA double-strand break repair (By similarity). Interacts with AP5Z1, AP5B1, AP5S1 and SPG11. Interacts with TTC19 and KIF13A (By similarity). Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Midbody Note=Localizes to the centrosome during all stages of the cell cycle. Recruited to the midbody during cytokinesis by KIF13A (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5DU37-1; Sequence=Displayed; Name=2; IsoId=Q5DU37-2; Sequence=VSP_030343; Name=3; IsoId=Q5DU37-3; Sequence=VSP_030342, VSP_030344, VSP_030345, VSP_030346; The FYVE-type zinc finger mediates binding to phosphatidylinositol 3-phosphate and recruitment to the midbody during cytokinesis. Belongs to the ZFYVE26 family. Sequence=BAD90401.1; Type=Erroneous initiation; Evidence=; mitotic cytokinesis double-strand break repair via homologous recombination cytoplasm centrosome microtubule organizing center cytoskeleton DNA repair cellular response to DNA damage stimulus cell cycle lipid binding midbody phosphatidylinositol-3-phosphate binding regulation of cytokinesis metal ion binding cell division uc007oae.1 uc007oae.2 uc007oae.3 
ENSMUST00000021548.12 Rdh12 ENSMUST00000021548.12 retinol dehydrogenase 12, transcript variant 1 (from RefSeq NM_030017.4) ENSMUST00000021548.1 ENSMUST00000021548.10 ENSMUST00000021548.11 ENSMUST00000021548.2 ENSMUST00000021548.3 ENSMUST00000021548.4 ENSMUST00000021548.5 ENSMUST00000021548.6 ENSMUST00000021548.7 ENSMUST00000021548.8 ENSMUST00000021548.9 NM_030017 Q8BYK4 Q91WA5 Q9D1Y4 RDH12_MOUSE uc007oac.1 uc007oac.2 uc007oac.3 uc007oac.4 The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in the human gene are associated with Leber congenital amaurosis type 13, and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]. Retinoids dehydrogenase/reductase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans- retinal. Shows very weak activity toward 13-cis-retinol. Also exhibits activity, albeit with lower affinity than for retinaldehydes, towards lipid peroxidation products (C9 aldehydes) such as 4-hydroxynonenal and trans-2-nonenal (By similarity). Plays an important function in photoreceptor cells to detoxify 4-hydroxynonenal and potentially other toxic aldehyde products resulting from lipid peroxidation (PubMed:19686838, PubMed:22621924, PubMed:17032653). Has no dehydrogenase activity towards steroids (By similarity). Reaction=all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH; Xref=Rhea:RHEA:25033, ChEBI:CHEBI:15378, ChEBI:CHEBI:17336, ChEBI:CHEBI:17898, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.300; Evidence=; Reaction=11-cis-retinol + NADP(+) = 11-cis-retinal + H(+) + NADPH; Xref=Rhea:RHEA:54912, ChEBI:CHEBI:15378, ChEBI:CHEBI:16066, ChEBI:CHEBI:16302, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=; Reaction=9-cis-retinol + NADP(+) = 9-cis-retinal + H(+) + NADPH; Xref=Rhea:RHEA:54916, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:78272, ChEBI:CHEBI:78273; Evidence=; Reaction=a 4-hydroxynonen-1-ol + NADP(+) = a 4-hydroxynonenal + H(+) + NADPH; Xref=Rhea:RHEA:58336, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:142593, ChEBI:CHEBI:142606; Evidence=; Reaction=(E)-non-2-en-1-ol + NADP(+) = (E)-non-2-enal + H(+) + NADPH; Xref=Rhea:RHEA:58332, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:142592, ChEBI:CHEBI:142604; Evidence=; Reaction=(Z)-non-6-en-1-ol + NADP(+) = (Z)-non-6-enal + H(+) + NADPH; Xref=Rhea:RHEA:58328, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:142591, ChEBI:CHEBI:142603; Evidence=; Reaction=NADP(+) + nonan-1-ol = H(+) + NADPH + nonanal; Xref=Rhea:RHEA:58380, ChEBI:CHEBI:15378, ChEBI:CHEBI:35986, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349, ChEBI:CHEBI:84268; Evidence=; Cofactor metabolism; retinol metabolism. Expressed in the inner segments of the photoreceptor in retina. Deficient mice are fertile and developed normally. Deficient mice exhibit normal retinal function at 6 weeks, but they show increased susceptibility to retinal cell apoptosis of both cone and rod photoreceptors induced by high intensity illumination (PubMed:17032653). All- trans-retinol production in inner and outer segments of the photoreceptor is not affected in deficient mice (PubMed:22621924). Shows clear specificity for the pro-S hydrogen on C4 of NADPH and the pro-R hydrogen on C15 of retinols. Belongs to the short-chain dehydrogenases/reductases (SDR) family. photoreceptor inner segment retinol dehydrogenase activity visual perception oxidoreductase activity retinol metabolic process response to stimulus NADP-retinol dehydrogenase activity oxidation-reduction process uc007oac.1 uc007oac.2 uc007oac.3 uc007oac.4 
ENSMUST00000021550.7 Arg2 ENSMUST00000021550.7 arginase type II (from RefSeq NM_009705.3) ARGI2_MOUSE ENSMUST00000021550.1 ENSMUST00000021550.2 ENSMUST00000021550.3 ENSMUST00000021550.4 ENSMUST00000021550.5 ENSMUST00000021550.6 NM_009705 O08691 uc007nzv.1 uc007nzv.2 uc007nzv.3 uc007nzv.4 May play a role in the regulation of extra-urea cycle arginine metabolism and also in down-regulation of nitric oxide synthesis. Extrahepatic arginase functions to regulate L-arginine bioavailability to nitric oxid synthase (NOS). Arginine metabolism is a critical regulator of innate and adaptive immune responses. Seems to be involved in negative regulation of the survival capacity of activated CD4(+) and CD8(+) T cells (PubMed:27745970, PubMed:25009204). May suppress inflammation-related signaling in asthmatic airway epithelium (PubMed:27214549). May contribute to the immune evasion of H.pylori by restricting M1 macrophage activation and polyamine metabolism (PubMed:27074721). May play a role in promoting prenatal immune suppression (By similarity). Regulates RPS6KB1 signaling, which promotes endothelial cell senescence and inflammation and implicates NOS3/eNOS dysfunction (PubMed:22928666). Can inhibit endothelial autophagy independently of its enzymatic activity implicating mTORC2 signaling (PubMed:25484082). Involved in vascular smooth muscle cell senescence and apoptosis independently of its enzymatic activity (By similarity). Reaction=H2O + L-arginine = L-ornithine + urea; Xref=Rhea:RHEA:20569, ChEBI:CHEBI:15377, ChEBI:CHEBI:16199, ChEBI:CHEBI:32682, ChEBI:CHEBI:46911; EC=3.5.3.1; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 manganese ions per subunit. Nitrogen metabolism; urea cycle; L-ornithine and urea from L- arginine: step 1/1. Homotrimer. Mitochondrion Belongs to the arginase family. urea cycle ureteric bud development adaptive immune response immune system process negative regulation of type 2 immune response arginase activity cytoplasm mitochondrion arginine metabolic process striated muscle contraction regulation of L-arginine import hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines arginine catabolic process to ornithine manganese ion binding negative regulation of tumor necrosis factor production innate immune response negative regulation of striated muscle contraction metal ion binding regulation of interleukin-1 beta secretion nitric-oxide synthase binding negative regulation of nitric-oxide synthase activity negative regulation of macrophage inflammatory protein 1 alpha production negative regulation of chemokine (C-C motif) ligand 4 production negative regulation of chemokine (C-C motif) ligand 5 production negative regulation of defense response to bacterium regulation of reactive oxygen species biosynthetic process negative regulation of tumor necrosis factor secretion negative regulation of interleukin-17 secretion negative regulation of activated CD8-positive, alpha-beta T cell apoptotic process negative regulation of CD4-positive, alpha-beta T cell proliferation negative regulation of interleukin-13 secretion positive regulation of cellular senescence uc007nzv.1 uc007nzv.2 uc007nzv.3 uc007nzv.4 
ENSMUST00000021552.3 Zfp36l1 ENSMUST00000021552.3 zinc finger protein 36, C3H type-like 1 (from RefSeq NM_007564.5) ENSMUST00000021552.1 ENSMUST00000021552.2 NM_007564 Q543H2 Q543H2_MOUSE Zfp36l1 uc007oal.1 uc007oal.2 uc007oal.3 Zinc-finger RNA-binding protein that destabilizes several cytoplasmic AU-rich element (ARE)-containing mRNA transcripts by promoting their poly(A) tail removal or deadenylation, and hence provide a mechanism for attenuating protein synthesis. Acts as a 3'- untranslated region (UTR) ARE mRNA-binding adapter protein to communicate signaling events to the mRNA decay machinery. Functions by recruiting the CCR4-NOT deadenylase complex and probably other components of the cytoplasmic RNA decay machinery to the bound ARE- containing mRNAs, and hence promotes ARE-mediated mRNA deadenylation and decay processes. Binds to 3'-UTR ARE of numerous mRNAs. Associates with the cytoplasmic CCR4-NOT deadenylase complex to trigger ARE-containing mRNA deadenylation and decay processes. Nucleus Cytoplasm MAPK cascade P-body mRNA binding nucleus cytoplasm cytosol mRNA catabolic process response to wounding regulation of gene expression regulation of keratinocyte proliferation phosphatidylinositol 3-kinase signaling AU-rich element binding nuclear-transcribed mRNA catabolic process, deadenylation-independent decay regulation of mRNA 3'-end processing cellular response to insulin stimulus mRNA 3'-UTR AU-rich region binding regulation of mRNA stability regulation of keratinocyte differentiation negative regulation of erythrocyte differentiation positive regulation of monocyte differentiation metal ion binding mRNA transport 3'-UTR-mediated mRNA destabilization ERK1 and ERK2 cascade cellular response to cAMP cellular response to tumor necrosis factor cellular response to epidermal growth factor stimulus cellular response to peptide hormone stimulus cellular response to glucocorticoid stimulus cellular response to hypoxia cellular response to transforming growth factor beta stimulus 14-3-3 protein binding positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay regulation of keratinocyte apoptotic process positive regulation of intracellular mRNA localization ribonucleoprotein complex uc007oal.1 uc007oal.2 uc007oal.3 
ENSMUST00000021554.16 Actn1 ENSMUST00000021554.16 actinin, alpha 1, transcript variant 1 (from RefSeq NM_134156.3) ACTN1_MOUSE ENSMUST00000021554.1 ENSMUST00000021554.10 ENSMUST00000021554.11 ENSMUST00000021554.12 ENSMUST00000021554.13 ENSMUST00000021554.14 ENSMUST00000021554.15 ENSMUST00000021554.2 ENSMUST00000021554.3 ENSMUST00000021554.4 ENSMUST00000021554.5 ENSMUST00000021554.6 ENSMUST00000021554.7 ENSMUST00000021554.8 ENSMUST00000021554.9 NM_134156 Q7TPR4 uc007oap.1 uc007oap.2 uc007oap.3 uc007oap.4 F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein (By similarity). Homodimer; antiparallel. Interacts with MYOZ2, TTID and LPP. Interacts with DDN (By similarity). Interacts with PSD (PubMed:17298598). Interacts with MICALL2 (PubMed:23100251). Interacts with DNM2 and CTTN. Interacts with PDLIM1. Interacts with PDLIM2. Interacts with PDLIM4 (via PDZ domain) (By similarity). Q7TPR4; Q8K4E0: Alms1; NbExp=4; IntAct=EBI-774010, EBI-6272972; Cytoplasm, cytoskeleton Cytoplasm, myofibril, sarcomere, Z line Cell membrane Cell junction Cell projection, ruffle Note=Colocalizes with MYOZ2 and PPP3CA at the Z-line of heart and skeletal muscle (PubMed:11114196). Colocalizes with PSD in membrane ruffles and central reticular structures (PubMed:17298598). Belongs to the alpha-actinin family. stress fiber ruffle double-stranded RNA binding actin binding integrin binding calcium ion binding protein binding nucleus cytoplasm cytoskeleton actin filament plasma membrane brush border cell-cell junction fascia adherens focal adhesion actin filament organization membrane vinculin binding protein domain specific binding sarcomere Z disc cell junction secretory granule platelet formation ligand-dependent nuclear receptor transcription coactivator activity cortical cytoskeleton cortical cytoskeleton organization dense core granule membrane platelet morphogenesis protein homodimerization activity cell projection dendritic spine ion channel binding metal ion binding focal adhesion assembly actin filament binding actin filament bundle assembly negative regulation of cellular component movement actin filament network formation actin crosslink formation glutamatergic synapse positive regulation of nucleic acid-templated transcription cortical actin cytoskeleton uc007oap.1 uc007oap.2 uc007oap.3 uc007oap.4 
ENSMUST00000021559.14 Erh ENSMUST00000021559.14 ERH mRNA splicing and mitosis factor, transcript variant 1 (from RefSeq NM_007951.5) ENSMUST00000021559.1 ENSMUST00000021559.10 ENSMUST00000021559.11 ENSMUST00000021559.12 ENSMUST00000021559.13 ENSMUST00000021559.2 ENSMUST00000021559.3 ENSMUST00000021559.4 ENSMUST00000021559.5 ENSMUST00000021559.6 ENSMUST00000021559.7 ENSMUST00000021559.8 ENSMUST00000021559.9 Erh NM_007951 Q4FZH7 Q4FZH7_MOUSE uc007oaz.1 uc007oaz.2 uc007oaz.3 uc007oaz.4 May have a role in the cell cycle. Belongs to the E(R) family. cell cycle uc007oaz.1 uc007oaz.2 uc007oaz.3 uc007oaz.4 
ENSMUST00000021564.11 Smoc1 ENSMUST00000021564.11 SPARC related modular calcium binding 1, transcript variant 2 (from RefSeq NM_022316.2) E9QKW2 E9QKW2_MOUSE ENSMUST00000021564.1 ENSMUST00000021564.10 ENSMUST00000021564.2 ENSMUST00000021564.3 ENSMUST00000021564.4 ENSMUST00000021564.5 ENSMUST00000021564.6 ENSMUST00000021564.7 ENSMUST00000021564.8 ENSMUST00000021564.9 NM_022316 Smoc1 uc007obt.1 uc007obt.2 uc007obt.3 uc007obt.4 Lacks conserved residue(s) required for the propagation of feature annotation. calcium ion binding uc007obt.1 uc007obt.2 uc007obt.3 uc007obt.4 
ENSMUST00000021567.6 Pcnx1 ENSMUST00000021567.6 pecanex 1 (from RefSeq NM_018814.3) ENSMUST00000021567.1 ENSMUST00000021567.2 ENSMUST00000021567.3 ENSMUST00000021567.4 ENSMUST00000021567.5 Kiaa0805 NM_018814 PCX1_MOUSE Pcnx Pcnx1 Pcnxl1 Q6ZQ41 Q9CUU7 Q9QYC1 uc007ocq.1 uc007ocq.2 Membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9QYC1-1; Sequence=Displayed; Name=2; IsoId=Q9QYC1-2; Sequence=VSP_022167; Belongs to the pecanex family. Sequence=AAF21809.1; Type=Erroneous initiation; Evidence=; molecular_function cellular_component biological_process membrane integral component of membrane uc007ocq.1 uc007ocq.2 
ENSMUST00000021592.16 Cdca7l ENSMUST00000021592.16 cell division cycle associated 7 like, transcript variant 6 (from RefSeq NR_182073.1) CDA7L_MOUSE ENSMUST00000021592.1 ENSMUST00000021592.10 ENSMUST00000021592.11 ENSMUST00000021592.12 ENSMUST00000021592.13 ENSMUST00000021592.14 ENSMUST00000021592.15 ENSMUST00000021592.2 ENSMUST00000021592.3 ENSMUST00000021592.4 ENSMUST00000021592.5 ENSMUST00000021592.6 ENSMUST00000021592.7 ENSMUST00000021592.8 ENSMUST00000021592.9 NR_182073 Q922M5 uc007pid.1 uc007pid.2 uc007pid.3 Plays a role in transcriptional regulation as a repressor that inhibits monoamine oxidase A (MAOA) activity and gene expression by binding to the promoter. Plays an important oncogenic role in mediating the full transforming effect of MYC in medulloblastoma cells (By similarity). Involved in apoptotic signaling pathways; May act downstream of P38-kinase and BCL-2, but upstream of CASP3/caspase-3 as well as CCND1/cyclin D1 and E2F1. Interacts with MYC (By similarity). Interacts (via IBM motifs) with PSIP1 (via IBD domain); phosphorylation increases its affinity for PSIP1 (By similarity). Cytoplasm Nucleus Note=Associates with chromatin. Translocates from cytoplasm to nucleus under dexamethasone induction (By similarity). Expressed in all tissues but not detected in total brain. Phosphorylation increases its interaction with PSIP1. fibrillar center nucleus nucleolus cytoplasm cytosol regulation of transcription, DNA-templated positive regulation of cell proliferation uc007pid.1 uc007pid.2 uc007pid.3 
ENSMUST00000021595.10 Psmc1 ENSMUST00000021595.10 protease (prosome, macropain) 26S subunit, ATPase 1 (from RefSeq NM_008947.3) ENSMUST00000021595.1 ENSMUST00000021595.2 ENSMUST00000021595.3 ENSMUST00000021595.4 ENSMUST00000021595.5 ENSMUST00000021595.6 ENSMUST00000021595.7 ENSMUST00000021595.8 ENSMUST00000021595.9 NM_008947 Psmc1 Q542I9 Q542I9_MOUSE uc007osn.1 uc007osn.2 uc007osn.3 uc007osn.4 uc007osn.5 Cytoplasm Nucleus Belongs to the AAA ATPase family. nucleotide binding proteasome complex ATP binding nucleus nucleoplasm cytoplasm cytosol hydrolase activity TBP-class protein binding protein catabolic process proteasome-activating ATPase activity positive regulation of proteasomal protein catabolic process uc007osn.1 uc007osn.2 uc007osn.3 uc007osn.4 uc007osn.5 
ENSMUST00000021596.9 Nrde2 ENSMUST00000021596.9 nrde-2 necessary for RNA interference, domain containing, transcript variant 5 (from RefSeq NR_165261.1) E9QKV8 ENSMUST00000021596.1 ENSMUST00000021596.2 ENSMUST00000021596.3 ENSMUST00000021596.4 ENSMUST00000021596.5 ENSMUST00000021596.6 ENSMUST00000021596.7 ENSMUST00000021596.8 NRDE2_MOUSE NR_165261 Q80XC6 Q8R3D7 Q99LT9 uc007oso.1 uc007oso.2 uc007oso.3 uc007oso.4 Protein of the nuclear speckles that regulates RNA degradation and export from the nucleus through its interaction with MTREX an essential factor directing various RNAs to exosomal degradation. Changes the conformation of MTREX, precluding its association with the nuclear exosome and interaction with proteins required for its function in RNA exosomal degradation. Negatively regulates, for instance, the degradation of mRNAs and lncRNAs by inhibiting their MTREX-mediated recruitment to nuclear exosome. By preventing the degradation of RNAs in the nucleus, it promotes their export to the cytoplasm (By similarity). U5 snRNP-associated RNA splicing factor which is required for efficient splicing of CEP131 pre- mRNA and plays an important role in centrosome maturation, integrity and function during mitosis (By similarity). Suppresses intron retention in a subset of pre-mRNAs containing short, GC-rich introns with relatively weak 5' and 3' splice sites (By similarity). Plays a role in DNA damage response (By similarity). Interacts with MTREX; the interaction is direct and stabilizes NRDE2 (By similarity). Interacts with EXOSC10, EFTUD2 and EIF4A3 (By similarity). Nucleus speckle Nucleus, nucleolus Nucleus, nucleoplasm Nucleus The MID/MTR4-interacting domain is necessary and sufficient to mediate interaction with MTREX. Belongs to the NRDE2 family. Sequence=AAH25577.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=AAH51175.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; Sequence=BY182441; Type=Frameshift; Evidence=; molecular_function nucleoplasm nucleolus RNA processing RNA interference nuclear speck chromatin silencing by small RNA negative regulation of RNA catabolic process uc007oso.1 uc007oso.2 uc007oso.3 uc007oso.4 
ENSMUST00000021603.9 Fbln5 ENSMUST00000021603.9 fibulin 5, transcript variant 14 (from RefSeq NR_182218.1) Dance ENSMUST00000021603.1 ENSMUST00000021603.2 ENSMUST00000021603.3 ENSMUST00000021603.4 ENSMUST00000021603.5 ENSMUST00000021603.6 ENSMUST00000021603.7 ENSMUST00000021603.8 FBLN5_MOUSE NR_182218 Q541Z7 Q9WVH9 uc007otp.1 uc007otp.2 uc007otp.3 uc007otp.4 Essential for elastic fiber formation, is involved in the assembly of continuous elastin (ELN) polymer and promotes the interaction of microfibrils and ELN (By similarity). Stabilizes and organizes elastic fibers in the skin, lung and vasculature. Promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. Vascular ligand for integrin receptors which may play a role in vascular development and remodeling (PubMed:11805835). May act as an adapter that mediates the interaction between FBN1 and ELN (By similarity). Homodimer. Monomer, homodimerizes in presence of Ca(2+). Interacts with ELN (By similarity). Interacts (via N-terminus) with the integrins ITGAV/ITGB3, ITGAV/ITGB5 and ITGA9/ITGB1 (PubMed:11805835). Interacts with FBN1 (via N-terminal domain). Forms a ternary complex with ELN and FBN1 (By similarity). Interacts with EFEMP2 with moderate affinity (By similarity). Secreted Secreted, extracellular space, extracellular matrix Note=co-localizes with ELN in elastic fibers. N-glycosylated. Mice survive to adulthood, but have a tortuous aorta with loss of compliance, severe emphisema and loose skin. They exhibit a severely disorganized elastic fiber system throughout the body. Belongs to the fibulin family. regulation of cell growth integrin binding calcium ion binding extracellular region extracellular space cell adhesion protein C-terminus binding extracellular matrix constituent conferring elasticity extracellular matrix organization protein localization to cell surface protein homodimerization activity secretion elastic fiber assembly regulation of removal of superoxide radicals elastic fiber uc007otp.1 uc007otp.2 uc007otp.3 uc007otp.4 
ENSMUST00000021605.14 Trip11 ENSMUST00000021605.14 thyroid hormone receptor interactor 11 (from RefSeq NM_028446.1) E9Q512 E9Q512_MOUSE ENSMUST00000021605.1 ENSMUST00000021605.10 ENSMUST00000021605.11 ENSMUST00000021605.12 ENSMUST00000021605.13 ENSMUST00000021605.2 ENSMUST00000021605.3 ENSMUST00000021605.4 ENSMUST00000021605.5 ENSMUST00000021605.6 ENSMUST00000021605.7 ENSMUST00000021605.8 ENSMUST00000021605.9 NM_028446 Trip11 uc007ott.1 uc007ott.2 uc007ott.3 uc007ott.4 Membrane ; Peripheral membrane protein inner acrosomal membrane acrosomal membrane outer acrosomal membrane ventricular septum development chondrocyte differentiation involved in endochondral bone morphogenesis protein binding nucleus endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus cis-Golgi network protein glycosylation Golgi organization nuclear speck cartilage development inner ear receptor stereocilium organization bone development Golgi ribbon formation vesicle tethering to Golgi uc007ott.1 uc007ott.2 uc007ott.3 uc007ott.4 
ENSMUST00000021606.12 Atxn3 ENSMUST00000021606.12 ataxin 3, transcript variant 1 (from RefSeq NM_029705.3) ATX3_MOUSE ENSMUST00000021606.1 ENSMUST00000021606.10 ENSMUST00000021606.11 ENSMUST00000021606.2 ENSMUST00000021606.3 ENSMUST00000021606.4 ENSMUST00000021606.5 ENSMUST00000021606.6 ENSMUST00000021606.7 ENSMUST00000021606.8 ENSMUST00000021606.9 Mjd NM_029705 Q9CVD2 uc007otv.1 uc007otv.2 uc007otv.3 uc007otv.4 Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (By similarity). Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins (By similarity). Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (PubMed:21855799). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription (By similarity). Acts as a negative regulator of mTORC1 signaling in response to amino acid deprivation by mediating deubiquitination of RHEB, thereby promoting RHEB inactivation by the TSC-TBC complex (By similarity). Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1 (PubMed:28445460). Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76- residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Evidence= Interacts with STUB1/CHIP (when monoubiquitinated) (PubMed:21855799). Interacts with DNA repair proteins RAD23A and RAD23B (By similarity). Interacts with BECN1 (via its poly-Gln domain) (PubMed:28445460). Interacts with PRKN, UBR2, VCP and tubulin (By similarity). Nucleus matrix Nucleus Lysosome membrane ; Peripheral membrane protein Note=Predominantly nuclear, but not exclusively, inner nuclear matrix. Recruited to lysosomal membrane in response to amino acid deprivation by the RagA/RRAGA-RagB/RRAGB complex. The UIM domains bind ubiquitin and interact with various E3 ubiquitin-protein ligase, such as STUB1/CHIP. They are essential to limit the length of ubiquitin chains (PubMed:21855799). Monoubiquitinated by UBE2W, possibly leading to activate the deubiquitinating enzyme activity (By similarity). microtubule cytoskeleton organization RNA polymerase II regulatory region DNA binding histone deacetylase activity thiol-dependent ubiquitin-specific protease activity protein binding nucleus nucleolus cytoplasm mitochondrial matrix cytosol plasma membrane proteolysis ubiquitin-dependent protein catabolic process misfolded or incompletely synthesized protein catabolic process peptidase activity cysteine-type peptidase activity regulation of cell-substrate adhesion protein deubiquitination hydrolase activity actin cytoskeleton organization ubiquitin protein ligase binding mitochondrial membrane cellular response to heat monoubiquitinated protein deubiquitination exploration behavior thiol-dependent ubiquitinyl hydrolase activity nuclear inclusion body identical protein binding proteasome-mediated ubiquitin-dependent protein catabolic process intermediate filament cytoskeleton organization ATPase binding Lys63-specific deubiquitinase activity protein K63-linked deubiquitination histone H3 deacetylation protein K48-linked deubiquitination cellular response to misfolded protein positive regulation of ERAD pathway protein localization to cytosolic proteasome complex involved in ERAD pathway Lys48-specific deubiquitinase activity endoplasmic reticulum membrane uc007otv.1 uc007otv.2 uc007otv.3 uc007otv.4 
ENSMUST00000021607.9 Lgmn ENSMUST00000021607.9 legumain, transcript variant 1 (from RefSeq NM_011175.4) ENSMUST00000021607.1 ENSMUST00000021607.2 ENSMUST00000021607.3 ENSMUST00000021607.4 ENSMUST00000021607.5 ENSMUST00000021607.6 ENSMUST00000021607.7 ENSMUST00000021607.8 LGMN_MOUSE NM_011175 O89017 Prsc1 uc007ouf.1 uc007ouf.2 uc007ouf.3 This gene encodes a member of the cysteine peptidase family C13 that plays an important role in the endosome/lysosomal degradation system. The encoded inactive preproprotein undergoes autocatalytic removal of the C-terminal inhibitory propeptide to generate the active endopeptidase that cleaves protein substrates on the C-terminal side of asparagine residues. Mice lacking the encoded protein exhibit defects in the lysosomal processing of proteins resulting in their accumulation in the lysosomes, and develop symptoms resembling hemophagocytic lymphohistiocytosis. [provided by RefSeq, Aug 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AJ000990.1, AF044266.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849382 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Has a strict specificity for hydrolysis of asparaginyl bonds (PubMed:24407422, PubMed:9742219, PubMed:9891971). Can also cleave aspartyl bonds slowly, especially under acidic conditions (PubMed:24407422, PubMed:9742219, PubMed:9891971). Involved in the processing of proteins for MHC class II antigen presentation in the lysosomal/endosomal system (By similarity). Also involved in MHC class I antigen presentation in cross-presenting dendritic cells by mediating cleavage and maturation of Perforin-2 (MPEG1), thereby promoting antigen translocation in the cytosol (PubMed:37347855). Required for normal lysosomal protein degradation in renal proximal tubules (PubMed:17350006, PubMed:21292981). Required for normal degradation of internalized EGFR (PubMed:21292981). Plays a role in the regulation of cell proliferation via its role in EGFR degradation (PubMed:21292981). Reaction=Hydrolysis of proteins and small molecule substrates at -Asn-|-Xaa- bonds.; EC=3.4.22.34; Evidence= Inhibited by cystatin-C. pH dependence: Optimum pH is 6. ; Homodimer before autocatalytic removal of the propeptide (PubMed:24407422). Monomer after autocatalytic processing (PubMed:24407422). May interact with integrins (By similarity). Lysosome Detected in kidney proximal tubules (at protein level). Ubiquitous. Particularly abundant in kidney and placenta. In the zymogen form, the uncleaved propeptide blocks access to the active site. Glycosylated. Activated by autocatalytic processing at pH 4. Young mice initially display no obvious phenotype, but fail to gain weight normally. Mutant mice display pale kidneys with abnormal proliferation of proximal tubule cells, proximal tubule hyperplasia and develop kidney interstitium fibrosis. After 6 months, mutant mice display a decreased glomerular filtration rate, increased plasma creatinine levels and proteinuria. Glomerular lysosomes do not show a generalized defect in protein catabolism. Instead they show defects in the degradation of a set of target proteins, including EGFR. Belongs to the peptidase C13 family. renal system process cysteine-type endopeptidase activity extracellular region cytoplasm lysosome late endosome proteolysis vacuolar protein processing memory peptidase activity cysteine-type peptidase activity positive regulation of cell proliferation associative learning response to acidic pH negative regulation of gene expression hydrolase activity receptor catabolic process cellular response to hepatocyte growth factor stimulus negative regulation of multicellular organism growth negative regulation of neuron apoptotic process apical part of cell positive regulation of mitotic cell cycle perinuclear region of cytoplasm proteolysis involved in cellular protein catabolic process cellular response to calcium ion positive regulation of monocyte chemotaxis dendritic spine organization activation of cysteine-type endopeptidase activity self proteolysis positive regulation of long-term synaptic potentiation negative regulation of ERBB signaling pathway cellular response to beta-amyloid positive regulation of endothelial cell chemotaxis uc007ouf.1 uc007ouf.2 uc007ouf.3 
ENSMUST00000021610.7 Chga ENSMUST00000021610.7 chromogranin A (from RefSeq NM_007693.2) CMGA_MOUSE ENSMUST00000021610.1 ENSMUST00000021610.2 ENSMUST00000021610.3 ENSMUST00000021610.4 ENSMUST00000021610.5 ENSMUST00000021610.6 NM_007693 P26339 uc007oui.1 uc007oui.2 uc007oui.3 uc007oui.4 This gene encodes a member of the granin family of acidic secretory glycoproteins that are expressed in endocrine cells and neurons. The encoded preproprotein undergoes proteolytic processing to generate multiple functions peptides including pancreastatin, catestatin and serpinin. The encoded protein plays important roles in the neuroendocrine system including regulated secretion of peptide hormones and neurotransmitters. Mice lacking the encoded protein exhibit elevated blood pressure which can be rescued by transgenic expression of the human ortholog. [provided by RefSeq, Nov 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: M64278.1, AK144504.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849376, SAMN00849377 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## [Pancreastatin]: Strongly inhibits glucose induced insulin release from the pancreas. [Catestatin]: Inhibits catecholamine release from chromaffin cells and noradrenergic neurons by acting as a non-competitive nicotinic cholinergic antagonist. Can induce mast cell migration, degranulation and production of cytokines and chemokines. [Serpinin]: Regulates granule biogenesis in endocrine cells by up-regulating the transcription of protease nexin 1 (SERPINE2) via a cAMP-PKA-SP1 pathway. This leads to inhibition of granule protein degradation in the Golgi complex which in turn promotes granule formation (PubMed:21436258). Pyroglutaminated (pGlu)-serpinin exerts an antiapoptotic effect on cells exposed to oxidative stress (PubMed:21537909). Self-interacts; self-assembly is promoted in vitro by chondroitin sulfate attachment which occurs at mildly acidic pH conditions (By similarity). Interacts with SCG3; this interaction is optimal in conditions mimicking the lumenal milieu of the trans-Golgi network, i.e. pH 5.5 and 10 mM Ca(+2) (PubMed:12388744). P26339; P00441: SOD1; Xeno; NbExp=5; IntAct=EBI-990900, EBI-990792; Cytoplasmic vesicle, secretory vesicle Cytoplasmic vesicle, secretory vesicle, neuronal dense core vesicle Secreted Note=Associated with the secretory granule membrane through direct interaction to SCG3 that in turn binds to cholesterol-enriched lipid rafts in intragranular conditions. [Serpinin]: Secreted Cytoplasmic vesicle, secretory vesicle Note=Pyroglutaminated serpinin localizes to secretory vesicle. O-glycosylated; contains chondroitin sulfate (CS). CS attachment is pH-dependent, being observed at mildly acidic conditions of pH 5 but not at neutral pH, and promotes self-assembly in vitro. [Serpinin]: Mass=2864.4; Method=MALDI; Evidence=; [Serpinin]: Mass=2864.5; Method=MALDI; Evidence=; [p-Glu serpinin precursor]: Mass=2532.4; Method=MALDI; Note=With pyrrolidone carboxylic acid at Gln-438.; Evidence=; Binds calcium with a low-affinity. Belongs to the chromogranin/secretogranin protein family. positive regulation of protein phosphorylation regulation of the force of heart contraction mast cell chemotaxis protein binding extracellular region extracellular space organelle organization membrane transport vesicle secretory granule transport vesicle membrane cytoplasmic vesicle mast cell cytokine production protein localization to secretory granule negative regulation of catecholamine secretion chromaffin granule mast cell granule mast cell degranulation positive regulation of cAMP-mediated signaling mast cell activation perinuclear region of cytoplasm defense response to Gram-negative bacterium defense response to Gram-positive bacterium regulation of cytosolic calcium ion concentration positive regulation of cardiac muscle contraction adrenergic receptor signaling pathway involved in cardiac muscle relaxation positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway negative regulation of neuron death positive regulation of relaxation of cardiac muscle positive regulation of dense core granule biogenesis uc007oui.1 uc007oui.2 uc007oui.3 uc007oui.4 
ENSMUST00000021617.14 Asb2 ENSMUST00000021617.14 ankyrin repeat and SOCS box-containing 2, transcript variant 1 (from RefSeq NM_023049.1) ASB2_MOUSE Asb2 ENSMUST00000021617.1 ENSMUST00000021617.10 ENSMUST00000021617.11 ENSMUST00000021617.12 ENSMUST00000021617.13 ENSMUST00000021617.2 ENSMUST00000021617.3 ENSMUST00000021617.4 ENSMUST00000021617.5 ENSMUST00000021617.6 ENSMUST00000021617.7 ENSMUST00000021617.8 ENSMUST00000021617.9 NM_023049 Q8K0L0 Q9CTH4 Q9WV73 uc007ove.1 uc007ove.2 Substrate-recognition component of a SCF-like ECS (Elongin- Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (By similarity). Mediates Notch-induced ubiquitination and degradation of substrates including TCF3/E2A and JAK2 (By similarity). Required during embryonic heart development for complete heart looping (PubMed:32179481). Required for cardiomyocyte differentiation (By similarity). [Isoform 1]: Involved in myogenic differentiation and targets filamin FLNB for proteasomal degradation but not filamin FLNA (PubMed:26343497). Also targets DES for proteasomal degradation (PubMed:26343497). Acts as a negative regulator of skeletal muscle mass (PubMed:27182554). [Isoform 2]: Targets filamins FLNA and FLNB for proteasomal degradation (PubMed:23632887). This leads to enhanced adhesion of hematopoietic cells to fibronectin (By similarity). Required for FLNA degradation in immature cardiomyocytes which is necessary for actin cytoskeleton remodeling, leading to proper organization of myofibrils and function of mature cardiomyocytes (PubMed:29374072). Required for degradation of FLNA and FLNB in immature dendritic cells (DC) which enhances immature DC migration by promoting DC podosome formation and DC-mediated degradation of the extracellular matrix (PubMed:23632887). Does not promote proteasomal degradation of tyrosine-protein kinases JAK1 or JAK2 in hematopoietic cells (By similarity). Protein modification; protein ubiquitination. Component of a probable ECS E3 ubiquitin-protein ligase complex which contains CUL5, either RBX1 or RNF7/RBX2, Elongin BC complex (ELOB and ELOC) and ASB2. Interacts with SKP2. Through its interaction with SKP2, likely to bridge the formation of dimeric E3- ubiquitin-protein ligase complexes composed of an ECS complex and an SCF(SKP2) complex. Interacts with JAK2; the interaction targets JAK2 for Notch-mediated proteasomal degradation. Interacts with TCF3/E2A; the interaction is mediated by SKP2 and targets TCF3 for Notch-mediated proteasomal degradation. [Isoform 1]: Interacts with DES. Cytoplasm, cytoskeleton, stress fiber [Isoform 1]: Cytoplasm, myofibril, sarcomere, Z line Note=Localizes to the Z line in cardiomyocytes. Event=Alternative splicing; Named isoforms=2; Name=1 ; Synonyms=ASB2beta ; IsoId=Q8K0L0-1; Sequence=Displayed; Name=2 ; Synonyms=ASB2alpha ; IsoId=Q8K0L0-2; Sequence=VSP_052025, VSP_052026; Highest expression in muscle, heart and spleen (PubMed:11111040). Highly expressed in cells of the first and second heart fields in the developing embryonic heart (PubMed:32179481). At 9.5 dpc, robust expression predominantly in the left and right ventricles (RV) and to a lower extent in inflow and outflow tracts (PubMed:32179481). At 10.5 and 11.5 dpc, expression is restricted to the myocardium with no expression observed in the endocardium (PubMed:32179481). [Isoform 1]: Not expressed in immature dendritic cells (PubMed:23632887). Highly expressed in adult skeletal muscle with very low levels in adult bone marrow (PubMed:29374072). [Isoform 2]: Expressed in immature dendritic cells and in primary dendritic cells derived from the spleen (PubMed:23632887). Highly expressed in adult bone marrow with negligible levels in adult skeletal muscle (PubMed:29374072). Expressed at higher levels in T helper type 2 (Th2) cells than in regulatory T (Treg) cells, type 1 helper T (Th1) cells and T helper 17 (Th17) cells (PubMed:31175139). [Isoform 1]: Very low levels found in the developing heart at 9.5 dpc when isoform 2 is the predominant isoform (PubMed:29374072, PubMed:32179481). Expression increases from 11.5 dpc and is the predominant isoform in adult heart (PubMed:29374072, PubMed:32179481). [Isoform 2]: Barely detectable in bone marrow cells but levels progressively increase as cells differentiate into immature dendritic cells and are down-regulated after dendritic cell maturation (PubMed:23632887). Highly expressed in the developing heart at 9.5 dpc when isoform 1 levels are very low (PubMed:29374072). Levels increase up to 11.5 dpc and fall in the adult heart (PubMed:29374072). Repressed by FST in 6-month-old mice but no effect is seen in 24-month-old mice (PubMed:27182554). Expression is increased 4-fold 3 days after denervation, becomes suppressed by approximately 75% 7 days after denervation, and eventually resolves to baseline by 28 days after denervation (PubMed:27182554). The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes. [Isoform 2]: Both the N-terminus and ANK repeats 1 to 10 are necessary for interaction with filamins. [Isoform 1]: The UIM domain is required for monoubiquitination. [Isoform 1]: Monoubiquitinated. [Isoform 2]: Not monoubiquitinated. [Isoform 2]: Phosphorylation at Ser-371 is required for association with FLNA and subsequent FLNA degradation. Embryonic lethality with death occurring in utero around 9.5 dpc (PubMed:29374072). Embryos display defects in vascular development and hematopoiesis and increased protein levels of Flna in the heart (PubMed:29374072). Conditional knockout in the whole heart and in the first heart field results in pericardial edema and embryonic lethality (PubMed:32179481). Conditional knockout in the embryonic heart results in impaired heart looping, abnormal expression of Flna expression which is expanded to include the myocardial layer and increased expression of Smad2 (PubMed:32179481). [Isoform 2]: Conditional knockout in hematopoietic stem and progenitor cells results in increased protein levels of Flna and Flnb in immature dendritic cells (PubMed:23632887). Conditional knockout in hematopoietic cells reduces tumor development in a mouse model of colitis-associated tumorigenesis with reduced numbers of T helper type 2 (Th2) cells and regulatory T (Treg) cells and increased numbers of type 1 helper T (Th1) cells and T helper 17 (Th17) cells in the colonic mucosa of tumor-bearing mice (PubMed:31175139). Belongs to the ankyrin SOCS box (ASB) family. Sequence=AAD38809.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; ubiquitin ligase complex protein polyubiquitination ubiquitin-dependent protein catabolic process protein ubiquitination Cul5-RING ubiquitin ligase complex intracellular signal transduction skeletal muscle cell differentiation myoblast differentiation ubiquitin protein ligase activity uc007ove.1 uc007ove.2 
ENSMUST00000021620.13 Otub2 ENSMUST00000021620.13 OTU domain, ubiquitin aldehyde binding 2, transcript variant 2 (from RefSeq NM_026580.5) ENSMUST00000021620.1 ENSMUST00000021620.10 ENSMUST00000021620.11 ENSMUST00000021620.12 ENSMUST00000021620.2 ENSMUST00000021620.3 ENSMUST00000021620.4 ENSMUST00000021620.5 ENSMUST00000021620.6 ENSMUST00000021620.7 ENSMUST00000021620.8 ENSMUST00000021620.9 NM_026580 OTUB2_MOUSE Q3TUZ2 Q9CQX0 Q9D4K8 uc007ovg.1 uc007ovg.2 uc007ovg.3 uc007ovg.4 Hydrolase that can remove conjugated ubiquitin from proteins in vitro and may therefore play an important regulatory role at the level of protein turnover by preventing degradation. Mediates deubiquitination of 'Lys-11'-,'Lys-48'- and 'Lys-63'-linked polyubiquitin chains, with a preference for 'Lys-63'-linked polyubiquitin chains (By similarity). Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76- residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Evidence=; Belongs to the peptidase C65 family. thiol-dependent ubiquitin-specific protease activity nucleus proteolysis peptidase activity cysteine-type peptidase activity protein deubiquitination hydrolase activity NEDD8-specific protease activity protein K11-linked deubiquitination thiol-dependent ubiquitinyl hydrolase activity ubiquitin binding protein K63-linked deubiquitination protein K48-linked deubiquitination uc007ovg.1 uc007ovg.2 uc007ovg.3 uc007ovg.4 
ENSMUST00000021628.4 Akr1c21 ENSMUST00000021628.4 aldo-keto reductase family 1, member C21 (from RefSeq NM_029901.2) AK1CL_MOUSE ENSMUST00000021628.1 ENSMUST00000021628.2 ENSMUST00000021628.3 NM_029901 Q6P8V0 Q91WR5 Q9CX32 uc007pjr.1 uc007pjr.2 uc007pjr.3 NADP-dependent 17-alpha-hydroxysteroid dehydrogenase that converts 5-alpha-androstane-3,17-dione into androsterone. Has lower 3- alpha-hydroxysteroid dehydrogenase activity. Has broad substrate specificity and acts on various 17-alpha-hydroxysteroids, 17- ketosteroids, 3-alpha hydroxysteroids and 3-ketosteroids. Reduction of keto groups is strictly stereoselective. Reduction of 17-ketosteroids yields only 17-alpha-hydroxysteroids. Likewise, reduction of 3- ketosteroids yields only 3-alpha-hydroxysteroids. Reaction=androsterone + NADP(+) = 5alpha-androstan-3,17-dione + H(+) + NADPH; Xref=Rhea:RHEA:20377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15994, ChEBI:CHEBI:16032, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.209; Evidence= Reaction=androsterone + NAD(+) = 5alpha-androstan-3,17-dione + H(+) + NADH; Xref=Rhea:RHEA:20381, ChEBI:CHEBI:15378, ChEBI:CHEBI:15994, ChEBI:CHEBI:16032, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.209; Evidence= Inhibited by high concentrations of substrate. Kinetic parameters: KM=1.8 uM for NADP KM=19 uM for androstenedione KM=0.5 uM for 5-beta-pregnane-3-alpha,20-alpha-diol ; KM=0.5 uM for 5-beta-pregnane-3,20-dione ; KM=0.6 uM for epitestosterone KM=0.3 uM for androst-4-ene-3,17-dione pH dependence: Optimum pH is 10.0. Monomer. Cytoplasm Detected in kidney and brain. Belongs to the aldo/keto reductase family. alditol:NADP+ 1-oxidoreductase activity aldo-keto reductase (NADP) activity steroid binding cytoplasm cytosol lipid metabolic process steroid biosynthetic process alcohol dehydrogenase (NADP+) activity steroid metabolic process steroid dehydrogenase activity oxidoreductase activity oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor phenanthrene 9,10-monooxygenase activity carboxylic acid binding bile acid binding steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor androsterone dehydrogenase activity 5alpha-androstane-3beta,17beta-diol dehydrogenase activity androsterone dehydrogenase (B-specific) activity ketosteroid monooxygenase activity trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity oxidation-reduction process NADP+ binding NADPH binding 17-beta-ketosteroid reductase activity 17-beta-hydroxysteroid dehydrogenase (NADP+) activity lithocholic acid binding uc007pjr.1 uc007pjr.2 uc007pjr.3 
ENSMUST00000021630.15 Akr1c6 ENSMUST00000021630.15 aldo-keto reductase family 1, member C6, transcript variant 1 (from RefSeq NM_030611.4) Akr1c6 ENSMUST00000021630.1 ENSMUST00000021630.10 ENSMUST00000021630.11 ENSMUST00000021630.12 ENSMUST00000021630.13 ENSMUST00000021630.14 ENSMUST00000021630.2 ENSMUST00000021630.3 ENSMUST00000021630.4 ENSMUST00000021630.5 ENSMUST00000021630.6 ENSMUST00000021630.7 ENSMUST00000021630.8 ENSMUST00000021630.9 NM_030611 Q3UEM0 Q3UEM0_MOUSE uc007pjo.1 uc007pjo.2 uc007pjo.3 Belongs to the aldo/keto reductase family. oxidoreductase activity oxidation-reduction process uc007pjo.1 uc007pjo.2 uc007pjo.3 
ENSMUST00000021632.5 Akr1c12 ENSMUST00000021632.5 aldo-keto reductase family 1, member C12 (from RefSeq NM_013777.2) Akr1c12 Akra ENSMUST00000021632.1 ENSMUST00000021632.2 ENSMUST00000021632.3 ENSMUST00000021632.4 NM_013777 Q9JLI0 Q9JLI0_MOUSE uc007pjn.1 uc007pjn.2 uc007pjn.3 Belongs to the aldo/keto reductase family. alditol:NADP+ 1-oxidoreductase activity aldo-keto reductase (NADP) activity cytosol prostaglandin metabolic process xenobiotic metabolic process alcohol dehydrogenase (NADP+) activity steroid metabolic process steroid dehydrogenase activity oxidoreductase activity bile acid binding progesterone metabolic process daunorubicin metabolic process doxorubicin metabolic process androsterone dehydrogenase activity ketosteroid monooxygenase activity oxidation-reduction process uc007pjn.1 uc007pjn.2 uc007pjn.3 
ENSMUST00000021634.4 Akr1c13 ENSMUST00000021634.4 aldo-keto reductase family 1, member C13, transcript variant 1 (from RefSeq NM_013778.3) AK1CD_MOUSE ENSMUST00000021634.1 ENSMUST00000021634.2 ENSMUST00000021634.3 NM_013778 Q8VC28 Q9D7R9 Q9R0M9 uc007pjl.1 uc007pjl.2 uc007pjl.3 uc007pjl.4 Catalyzes the dehydrogenation of 17-beta-hydroxysteroids. May also exhibit significant activity with a variety of cyclic and alicyclic alcohols. Uses both NAD and NADP, but the activity is much greater with NAD than with NADP (By similarity). Belongs to the aldo/keto reductase family. alditol:NADP+ 1-oxidoreductase activity aldo-keto reductase (NADP) activity cytosol prostaglandin metabolic process xenobiotic metabolic process alcohol dehydrogenase (NADP+) activity steroid metabolic process steroid dehydrogenase activity oxidoreductase activity bile acid binding progesterone metabolic process daunorubicin metabolic process doxorubicin metabolic process androsterone dehydrogenase activity ketosteroid monooxygenase activity oxidation-reduction process uc007pjl.1 uc007pjl.2 uc007pjl.3 uc007pjl.4 
ENSMUST00000021635.9 Akr1c18 ENSMUST00000021635.9 aldo-keto reductase family 1, member C18, transcript variant 1 (from RefSeq NM_134066.3) AKC1H_MOUSE ENSMUST00000021635.1 ENSMUST00000021635.2 ENSMUST00000021635.3 ENSMUST00000021635.4 ENSMUST00000021635.5 ENSMUST00000021635.6 ENSMUST00000021635.7 ENSMUST00000021635.8 NM_134066 Q8K023 Q99N44 uc007pjj.1 uc007pjj.2 uc007pjj.3 Catalyzes the conversion of progesterone into 20-alpha- dihydroprogesterone (20 alpha-OHP). Reaction=(17R,20S)-17,20-dihydroxypregn-4-en-3-one + NADP(+) = 17alpha- hydroxyprogesterone + H(+) + NADPH; Xref=Rhea:RHEA:15857, ChEBI:CHEBI:15378, ChEBI:CHEBI:16418, ChEBI:CHEBI:17252, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.149; Reaction=(17R,20S)-17,20-dihydroxypregn-4-en-3-one + NAD(+) = 17alpha- hydroxyprogesterone + H(+) + NADH; Xref=Rhea:RHEA:15853, ChEBI:CHEBI:15378, ChEBI:CHEBI:16418, ChEBI:CHEBI:17252, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.149; Monomer. Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8K023-1; Sequence=Displayed; Name=2; IsoId=Q8K023-2; Sequence=VSP_014039; Belongs to the aldo/keto reductase family. retinal dehydrogenase activity alditol:NADP+ 1-oxidoreductase activity aldo-keto reductase (NADP) activity retinol dehydrogenase activity nucleus cytoplasm cytosol prostaglandin metabolic process progesterone catabolic process G-protein coupled receptor signaling pathway female pregnancy parturition alcohol dehydrogenase (NADP+) activity steroid metabolic process positive regulation of cell proliferation positive regulation of cell death steroid dehydrogenase activity farnesol catabolic process oxidoreductase activity oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor phenanthrene 9,10-monooxygenase activity bile acid binding cellular response to reactive oxygen species dihydrotestosterone 17-beta-dehydrogenase activity progesterone metabolic process retinal metabolic process daunorubicin metabolic process doxorubicin metabolic process geranylgeranyl reductase activity ketoreductase activity 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity 15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity androsterone dehydrogenase activity ketosteroid monooxygenase activity delta4-3-oxosteroid 5beta-reductase activity regulation of retinoic acid receptor signaling pathway regulation of steroid biosynthetic process positive regulation of protein kinase B signaling oxidation-reduction process testosterone biosynthetic process cellular response to cadmium ion cellular response to calcium ion cellular response to follicle-stimulating hormone stimulus cellular response to prostaglandin stimulus cellular response to corticosteroid stimulus cellular response to testosterone stimulus cellular response to jasmonic acid stimulus cellular response to transforming growth factor beta stimulus cellular response to prostaglandin D stimulus cellular response to gonadotropin-releasing hormone negative regulation of retinoic acid biosynthetic process cellular response to forskolin cellular response to prolactin regulation of testosterone biosynthetic process positive regulation of endothelial cell apoptotic process positive regulation of reactive oxygen species metabolic process uc007pjj.1 uc007pjj.2 uc007pjj.3 
ENSMUST00000021639.8 Tubal3 ENSMUST00000021639.8 tubulin, alpha-like 3, transcript variant 4 (from RefSeq NM_001426391.1) B9EJS3 ENSMUST00000021639.1 ENSMUST00000021639.2 ENSMUST00000021639.3 ENSMUST00000021639.4 ENSMUST00000021639.5 ENSMUST00000021639.6 ENSMUST00000021639.7 NM_001426391 Q3UX10 TBAL3_MOUSE uc007pjg.1 uc007pjg.2 uc007pjg.3 Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19670; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Cytoplasm, cytoskeleton The MREC motif may be critical for tubulin autoregulation. Some glutamate residues at the C-terminus are polyglycylated, resulting in polyglycine chains on the gamma-carboxyl group. Glycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering polyglycylation levels increases polyglutamylation, and reciprocally. Cilia and flagella glycylation is required for their stability and maintenance. Flagella glycylation controls sperm motility. Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (By similarity). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (By similarity). Glutamylation is also involved in cilia motility (By similarity). Belongs to the tubulin family. nucleotide binding microtubule cytoskeleton organization mitotic cell cycle GTPase activity structural constituent of cytoskeleton GTP binding cytoplasm cytoskeleton microtubule microtubule-based process uc007pjg.1 uc007pjg.2 uc007pjg.3 
ENSMUST00000021641.8 Tshz3 ENSMUST00000021641.8 teashirt zinc finger family member 3 (from RefSeq NM_172298.3) A0A0R4J017 A0A0R4J017_MOUSE ENSMUST00000021641.1 ENSMUST00000021641.2 ENSMUST00000021641.3 ENSMUST00000021641.4 ENSMUST00000021641.5 ENSMUST00000021641.6 ENSMUST00000021641.7 NM_172298 Tshz3 uc009gkj.1 uc009gkj.2 uc009gkj.3 Nucleus Belongs to the teashirt C2H2-type zinc-finger protein family. nucleic acid binding DNA binding chromatin binding nucleus nucleoplasm regulation of gene expression negative regulation of transcription, DNA-templated uc009gkj.1 uc009gkj.2 uc009gkj.3 
ENSMUST00000021646.6 Papln ENSMUST00000021646.6 papilin, proteoglycan-like sulfated glycoprotein, transcript variant 2 (from RefSeq NM_130887.3) A2RTE8 B2RQC4 ENSMUST00000021646.1 ENSMUST00000021646.2 ENSMUST00000021646.3 ENSMUST00000021646.4 ENSMUST00000021646.5 NM_130887 PPN_MOUSE Q99JQ8 Q9EPX2 uc007odr.1 uc007odr.2 uc007odr.3 uc007odr.4 uc007odr.5 Secreted Belongs to the papilin family. serine-type endopeptidase inhibitor activity extracellular matrix structural constituent extracellular region basement membrane proteolysis peptidase activity negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity uc007odr.1 uc007odr.2 uc007odr.3 uc007odr.4 uc007odr.5 
ENSMUST00000021649.8 Acot2 ENSMUST00000021649.8 acyl-CoA thioesterase 2 (from RefSeq NM_134188.3) ACOT2_MOUSE ENSMUST00000021649.1 ENSMUST00000021649.2 ENSMUST00000021649.3 ENSMUST00000021649.4 ENSMUST00000021649.5 ENSMUST00000021649.6 ENSMUST00000021649.7 Mte1 NM_134188 Q3T9C9 Q9QYR9 uc011yor.1 uc011yor.2 uc011yor.3 uc011yor.4 Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels (PubMed:25114170). Displays higher activity toward long chain acyl CoAs (C14-C20) (PubMed:25114170). The enzyme is involved in enhancing the hepatic fatty acid oxidation in mitochondria (PubMed:25114170). Reaction=H2O + hexadecanoyl-CoA = CoA + H(+) + hexadecanoate; Xref=Rhea:RHEA:16645, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379; EC=3.1.2.2; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16646; Evidence=; Reaction=H2O + tetradecanoyl-CoA = CoA + H(+) + tetradecanoate; Xref=Rhea:RHEA:40119, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30807, ChEBI:CHEBI:57287, ChEBI:CHEBI:57385; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40120; Evidence=; Reaction=H2O + octadecanoyl-CoA = CoA + H(+) + octadecanoate; Xref=Rhea:RHEA:30139, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:25629, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:30140; Evidence=; Reaction=eicosanoyl-CoA + H2O = CoA + eicosanoate + H(+); Xref=Rhea:RHEA:40147, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32360, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40148; Evidence=; Reaction=decanoyl-CoA + H2O = CoA + decanoate + H(+); Xref=Rhea:RHEA:40059, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:27689, ChEBI:CHEBI:57287, ChEBI:CHEBI:61430; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40060; Evidence=; Reaction=dodecanoyl-CoA + H2O = CoA + dodecanoate + H(+); Xref=Rhea:RHEA:30135, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:18262, ChEBI:CHEBI:57287, ChEBI:CHEBI:57375; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:30136; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + H2O = (9Z)-octadecenoate + CoA + H(+); Xref=Rhea:RHEA:40139, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40140; Evidence=; Reaction=(9Z)-hexadecenoyl-CoA + H2O = (9Z)-hexadecenoate + CoA + H(+); Xref=Rhea:RHEA:40131, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32372, ChEBI:CHEBI:57287, ChEBI:CHEBI:61540; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40132; Evidence=; Reaction=(9E)-octadecenoyl-CoA + H2O = (9E)-octadecenoate + CoA + H(+); Xref=Rhea:RHEA:40723, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30825, ChEBI:CHEBI:57287, ChEBI:CHEBI:77537; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40724; Evidence=; Reaction=(9Z,12Z)-octadecadienoyl-CoA + H2O = (9Z,12Z)-octadecadienoate + CoA + H(+); Xref=Rhea:RHEA:40143, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30245, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40144; Evidence=; Lipid metabolism; fatty acid metabolism. Monomer. Mitochondrion matrix Highly expressed in brown and white adipose tissue, muscle, heart, kidney, lung, adrenal gland and spleen; weakly expressed in intestine, testis and brain. In the liver, by peroxisome proliferator (Clofibrate) treatment, via the peroxisome proliferator-activated receptors (PPARs) or fasting for 24 hours. Belongs to the C/M/P thioester hydrolase family. very long-chain fatty acid metabolic process response to hypoxia long-chain fatty acid metabolic process mitochondrion mitochondrial matrix lipid metabolic process fatty acid metabolic process acyl-CoA metabolic process palmitoyl-CoA hydrolase activity hydrolase activity thiolester hydrolase activity very long-chain fatty acid catabolic process acyl-CoA hydrolase activity carboxylic ester hydrolase activity uc011yor.1 uc011yor.2 uc011yor.3 uc011yor.4 
ENSMUST00000021652.5 Acot4 ENSMUST00000021652.5 acyl-CoA thioesterase 4 (from RefSeq NM_134247.3) ACOT4_MOUSE ENSMUST00000021652.1 ENSMUST00000021652.2 ENSMUST00000021652.3 ENSMUST00000021652.4 NM_134247 Pte1b Pte2b Q8BJQ1 Q8BL20 Q8BWN8 Q9QYR8 uc007oed.1 uc007oed.2 uc007oed.3 Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels (PubMed:16141203, PubMed:16940157). In contrast to its human ortholog, functions essentially as a succinyl-CoA thioesterase with no activity with medium to long chain saturated acyl-CoAs and with a low activity toward glutaryl-CoA (PubMed:16141203, PubMed:16940157). Reaction=H2O + succinyl-CoA = CoA + H(+) + succinate; Xref=Rhea:RHEA:11516, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30031, ChEBI:CHEBI:57287, ChEBI:CHEBI:57292; EC=3.1.2.3; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11517; Evidence=; Reaction=glutaryl-CoA + H2O = CoA + glutarate + H(+); Xref=Rhea:RHEA:40575, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30921, ChEBI:CHEBI:57287, ChEBI:CHEBI:57378; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40576; Evidence=; Kinetic parameters: KM=13.3 uM for succinyl-CoA ; KM=37.1 uM for glutaryl-CoA ; Vmax=3.98 umol/min/mg enzyme with succinyl-CoA as substrate ; Vmax=1.14 umol/min/mg enzyme with glutaryl-CoA as substrate ; Lipid metabolism; fatty acid metabolism. Peroxisome Mainly expressed in liver and kidney. Weakly expressed in other tissues including intestine, adrenal gland and adipose tissues. In the liver, by peroxisome proliferator (Clofibrate) treatment, via the peroxisome proliferator-activated receptors (PPARs) or fasting for 24 hours. Belongs to the C/M/P thioester hydrolase family. very long-chain fatty acid metabolic process long-chain fatty acid metabolic process succinyl-CoA hydrolase activity peroxisome succinyl-CoA metabolic process lipid metabolic process fatty acid metabolic process acyl-CoA metabolic process hydrolase activity thiolester hydrolase activity saturated monocarboxylic acid metabolic process unsaturated monocarboxylic acid metabolic process dicarboxylic acid metabolic process dicarboxylic acid catabolic process short-chain fatty acid metabolic process acyl-CoA hydrolase activity carboxylic ester hydrolase activity uc007oed.1 uc007oed.2 uc007oed.3 
ENSMUST00000021665.12 Vsx2 ENSMUST00000021665.12 visual system homeobox 2, transcript variant 2 (from RefSeq NM_007701.3) Chx10 ENSMUST00000021665.1 ENSMUST00000021665.10 ENSMUST00000021665.11 ENSMUST00000021665.2 ENSMUST00000021665.3 ENSMUST00000021665.4 ENSMUST00000021665.5 ENSMUST00000021665.6 ENSMUST00000021665.7 ENSMUST00000021665.8 ENSMUST00000021665.9 NM_007701 Q80WF9 Q80WF9_MOUSE Vsx2 uc007ofm.1 uc007ofm.2 uc007ofm.3 uc007ofm.4 This gene encodes a member of the Vsx (visual system homeobox) family which belongs to the larger PRD homeobox class. The encoded protein is required for eye organogenesis and controls retinal development. Disruption of this gene is associated with ocular retardation J (orJ), a mouse disease which causes microphthalmia, retinal degeneration and optic nerve aplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]. Nucleus Belongs to the paired homeobox family. DNA binding nucleus regulation of transcription, DNA-templated multicellular organism development sequence-specific DNA binding uc007ofm.1 uc007ofm.2 uc007ofm.3 uc007ofm.4 
ENSMUST00000021666.6 Abcd4 ENSMUST00000021666.6 ATP-binding cassette, sub-family D member 4, transcript variant 3 (from RefSeq NR_186732.1) ABCD4_MOUSE Abcd4 E9QKU3 ENSMUST00000021666.1 ENSMUST00000021666.2 ENSMUST00000021666.3 ENSMUST00000021666.4 ENSMUST00000021666.5 NR_186732 O89016 Pxmp1l uc007ofo.1 uc007ofo.2 uc007ofo.3 uc007ofo.4 Lysosomal membrane protein that transports cobalamin (Vitamin B12) from the lysosomal lumen to the cytosol in an ATP-dependent manner. Targeted by LMBRD1 lysosomal chaperone from the endoplasmic reticulum to the lysosomal membrane. Then forms a complex with lysosomal chaperone LMBRD1 and cytosolic MMACHC to transport cobalamin across the lysosomal membrane. Reaction=an R-cob(III)alamin(out) + ATP + H2O = ADP + an R- cob(III)alamin(in) + H(+) + phosphate; Xref=Rhea:RHEA:17873, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:140785, ChEBI:CHEBI:456216; EC=7.6.2.8; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:17874; Evidence=; Homodimer or heterodimer. Interacts with LMBRD1; this interaction induces the translocation of ABCD4 from the ER to the lysosome membrane. Interacts with LMBRD1 and MMACHC; this interaction ensures the transport of cobalamin from the lysosome to the cytosol. Endoplasmic reticulum membrane ; Multi-pass membrane protein Lysosome membrane ; Multi- pass membrane protein Belongs to the ABC transporter superfamily. ABCD family. Peroxisomal fatty acyl CoA transporter (TC 3.A.1.203) subfamily. Originally proposed to be a peroxisomal protein (By similarity). Recent studies have suggested its localization to the endoplasmic reticulum and within the lysosome (By similarity). nucleotide binding ATP binding endoplasmic reticulum membrane cobalamin metabolic process membrane integral component of membrane ATPase activity ATPase activity, coupled to transmembrane movement of substances transmembrane transport cellular response to leukemia inhibitory factor peroxisome uc007ofo.1 uc007ofo.2 uc007ofo.3 uc007ofo.4 
ENSMUST00000021667.7 Isca2 ENSMUST00000021667.7 iron-sulfur cluster assembly 2 (from RefSeq NM_028863.1) ENSMUST00000021667.1 ENSMUST00000021667.2 ENSMUST00000021667.3 ENSMUST00000021667.4 ENSMUST00000021667.5 ENSMUST00000021667.6 Hbld1 ISCA2_MOUSE NM_028863 Q9DCB8 uc007ofu.1 uc007ofu.2 uc007ofu.3 uc007ofu.4 Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. May be involved in the binding of an intermediate of Fe/S cluster assembly. Mitochondrion Belongs to the HesB/IscA family. Sequence=BAB22467.1; Type=Erroneous initiation; Evidence=; structural molecule activity iron ion binding mitochondrion iron-sulfur cluster assembly metal ion binding iron-sulfur cluster binding 2 iron, 2 sulfur cluster binding 4 iron, 4 sulfur cluster binding protein maturation protein maturation by iron-sulfur cluster transfer uc007ofu.1 uc007ofu.2 uc007ofu.3 uc007ofu.4 
ENSMUST00000021668.10 Npc2 ENSMUST00000021668.10 NPC intracellular cholesterol transporter 2 (from RefSeq NM_023409.4) ENSMUST00000021668.1 ENSMUST00000021668.2 ENSMUST00000021668.3 ENSMUST00000021668.4 ENSMUST00000021668.5 ENSMUST00000021668.6 ENSMUST00000021668.7 ENSMUST00000021668.8 ENSMUST00000021668.9 NM_023409 NPC2_MOUSE Npc2 Q3UB23 Q9Z0J0 uc007oft.1 uc007oft.2 uc007oft.3 Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment (PubMed:12591949, PubMed:17018531, PubMed:21315718, PubMed:26296895). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1. May bind and mobilize cholesterol that is associated with membranes. NPC2 binds cholesterol with a 1:1 stoichiometry. Can bind a variety of sterols, including lathosterol, desmosterol and the plant sterols stigmasterol and beta-sitosterol (By similarity). The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport (PubMed:21315718). Reaction=cholesterol(in) = cholesterol(out); Xref=Rhea:RHEA:39747, ChEBI:CHEBI:16113; Evidence=; Interacts with NPC1 (via the second lumenal domain) in a cholestrol-dependent manner. Interacts with NUS1/NgBR, the interaction stabilizes NCP2 and regulates cholesterol trafficking. Interacts with DHDDS. Interacts with NEDD4L (via C2 domain). Interacts with NPC1L1. Secreted doplasmic reticulum Lysosome Note=Interaction with cell-surface M6PR mediates endocytosis and targeting to lysosomes. Detected in liver and bile (PubMed:21315718). Detected in epididymis (at protein level). Detected in caput epididymis, corpus epididymis, cauda epididymis and ovary (PubMed:10863096). Binds cholesterol in a hydrophobic pocket; there are no hydrogen bonds between the sterol and the protein. N-glycosylated. Belongs to the NPC2 family. extracellular region extracellular space lysosome endoplasmic reticulum lipid metabolic process lipid transport steroid metabolic process cholesterol metabolic process cholesterol binding sterol transport enzyme binding cholesterol transport intracellular sterol transport intracellular cholesterol transport sterol binding cholesterol efflux cholesterol homeostasis uc007oft.1 uc007oft.2 uc007oft.3 
ENSMUST00000021669.15 Fcf1 ENSMUST00000021669.15 FCF1 rRNA processing protein (from RefSeq NM_028632.2) ENSMUST00000021669.1 ENSMUST00000021669.10 ENSMUST00000021669.11 ENSMUST00000021669.12 ENSMUST00000021669.13 ENSMUST00000021669.14 ENSMUST00000021669.2 ENSMUST00000021669.3 ENSMUST00000021669.4 ENSMUST00000021669.5 ENSMUST00000021669.6 ENSMUST00000021669.7 ENSMUST00000021669.8 ENSMUST00000021669.9 FCF1_MOUSE NM_028632 Q505C6 Q8K261 Q9CTH6 uc007ogc.1 uc007ogc.2 uc007ogc.3 uc007ogc.4 Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre- rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre- ribosomal RNA by the RNA exosome. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3. Nucleus, nucleolus Belongs to the UTP23/FCF1 family. FCF1 subfamily. Sequence=AAH33045.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleus nucleolus rRNA processing small-subunit processome ribosome biogenesis uc007ogc.1 uc007ogc.2 uc007ogc.3 uc007ogc.4 
ENSMUST00000021674.7 Fos ENSMUST00000021674.7 FBJ osteosarcoma oncogene (from RefSeq NM_010234.3) ENSMUST00000021674.1 ENSMUST00000021674.2 ENSMUST00000021674.3 ENSMUST00000021674.4 ENSMUST00000021674.5 ENSMUST00000021674.6 FOS_MOUSE NM_010234 P01101 uc007oha.1 uc007oha.2 uc007oha.3 uc007oha.4 uc007oha.5 Nuclear phosphoprotein which forms a tight but non-covalently linked complex with the JUN/AP-1 transcription factor. On TGF-beta activation, forms a multimeric SMAD3/SMAD4/JUN/FOS complex, at the AP1/SMAD-binding site to regulate TGF-beta-mediated signaling (By similarity). Has a critical function in regulating the development of cells destined to form and maintain the skeleton. It is thought to have an important role in signal transduction, cell proliferation and differentiation. In growing cells, activates phospholipid synthesis, possibly by activating CDS1 and PI4K2A. This activity requires Tyr- dephosphorylation and association with the endoplasmic reticulum. Heterodimer; with JUN (PubMed:29272704). Component of the SMAD3/SMAD4/JUN/FOS complex required for synergistic TGF-beta-mediated transcription at the AP1 promoter site (By similarity). Interacts with SMAD3; the interaction is weak even on TGF-beta activation (By similarity). Interacts with MAFB (By similarity). Interacts with TSC22D3 (via N-terminus); this interaction inhibits the binding of active AP1 to its target DNA (PubMed:11397794). Interacts with CDS1 and PI4K2A, but not with CDIPT, nor PI4K2B (PubMed:22105363). Interacts (via bZIP domain and leucine-zipper region) with the multiprotein chromatin-remodeling complexes SWI/SNF: SWI/SNF-A (BAF) subunits SMARCB1, SMARCC2 and SMARCD1 (PubMed:29272704). Interacts (via bZIP domain and leucine-zipper region) with ARID1A (PubMed:29272704). P01101; O08537: Esr2; NbExp=2; IntAct=EBI-4288185, EBI-2526214; P01101; P54841: Mafb; NbExp=4; IntAct=EBI-4288185, EBI-16093217; P01101; P14404: Mecom; NbExp=2; IntAct=EBI-4288185, EBI-1994523; Nucleus Endoplasmic reticulum Cytoplasm, cytosol Note=In quiescent cells, present in very small amounts in the cytosol. Following induction of cell growth, first localizes to the endoplasmic reticulum and only later to the nucleus. Localization at the endoplasmic reticulum requires dephosphorylation at Tyr-10 and Tyr-30 (By similarity). Phosphorylated in the C-terminal upon stimulation by nerve growth factor (NGF) and epidermal growth factor (EGF). Phosphorylated, in vitro, by MAPK and RSK1. Phosphorylation on both Ser-362 and Ser-374 by MAPK1/2 and RSK1/2 leads to protein stabilization with phosphorylation on Ser-374 being the major site for protein stabilization on NGF stimulation. Phosphorylation on Ser-362 and Ser-374 primes further phosphorylations on Thr-325 and Thr-331 through promoting docking of MAPK to the DEF domain. Phosphorylation on Thr-232, induced by HA-RAS, activates the transcriptional activity and antagonizes sumoylation. Phosphorylation on Ser-362 by RSK2 in osteoblasts contributes to osteoblast transformation (By similarity). Constitutively sumoylated with SUMO1, SUMO2 and SUMO3. Desumoylated by SENP2. Sumoylation requires heterodimerization with JUN and is enhanced by mitogen stimulation. Sumoylation inhibits the AP-1 transcriptional activity and is, itself, inhibited by Ras-activated phosphorylation on Thr-232 (By similarity). In quiescent cells, the small amount of FOS present is phosphorylated at Tyr-10 and Tyr-30 by SRC. This Tyr-phosphorylated form is cytosolic. In growing cells, dephosphorylated by PTPN2. Dephosphorylation leads to the association with endoplasmic reticulum membranes and activation of phospholipid synthesis. Belongs to the bZIP family. Fos subfamily. RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II core promoter sequence-specific DNA binding RNA polymerase II activating transcription factor binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding conditioned taste aversion DNA binding chromatin binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm transcription factor complex cytoplasm endoplasmic reticulum cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter transforming growth factor beta receptor signaling pathway nervous system development female pregnancy aging transcription factor binding response to cold response to light stimulus response to mechanical stimulus response to gravity response to toxic substance regulation of gene expression response to organic cyclic compound membrane sleep cellular response to extracellular stimulus response to lipopolysaccharide response to progesterone cellular response to hormone stimulus protein-DNA complex response to cytokine cellular response to reactive oxygen species response to immobilization stress skeletal muscle cell differentiation transcription factor AP-1 complex response to muscle stretch response to drug neuron projection sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of osteoclast differentiation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity response to corticosterone response to cAMP SMAD protein signal transduction R-SMAD binding cellular response to cadmium ion cellular response to calcium ion positive regulation of neuron death positive regulation of pri-miRNA transcription from RNA polymerase II promoter uc007oha.1 uc007oha.2 uc007oha.3 uc007oha.4 uc007oha.5 
ENSMUST00000021676.12 Erg28 ENSMUST00000021676.12 ergosterol biosynthesis 28, transcript variant 3 (from RefSeq NR_153807.1) ENSMUST00000021676.1 ENSMUST00000021676.10 ENSMUST00000021676.11 ENSMUST00000021676.2 ENSMUST00000021676.3 ENSMUST00000021676.4 ENSMUST00000021676.5 ENSMUST00000021676.6 ENSMUST00000021676.7 ENSMUST00000021676.8 ENSMUST00000021676.9 ERG28_MOUSE Erg28 NR_153807 Orf11 Q3U8G1 Q9ERY9 uc007ohf.1 uc007ohf.2 uc007ohf.3 Endoplasmic reticulum membrane ; Multi-pass membrane protein Belongs to the ERG28 family. endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process steroid biosynthetic process ergosterol biosynthetic process steroid metabolic process membrane integral component of membrane sterol biosynthetic process transport vesicle protein binding, bridging uc007ohf.1 uc007ohf.2 uc007ohf.3 
ENSMUST00000021681.4 Vash1 ENSMUST00000021681.4 vasohibin 1 (from RefSeq NM_177354.4) E9QKT9 ENSMUST00000021681.1 ENSMUST00000021681.2 ENSMUST00000021681.3 NM_177354 Q8C1W1 Q8C394 VASH1_MOUSE Vash Vash1 uc007ohx.1 uc007ohx.2 uc007ohx.3 uc007ohx.4 Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function (PubMed:29146868). Acts as an angiogenesis inhibitor: inhibits migration, proliferation and network formation by endothelial cells as well as angiogenesis (PubMed:19204325). This inhibitory effect is selective to endothelial cells as it does not affect the migration of smooth muscle cells or fibroblasts (By similarity). Reaction=C-terminal L-alpha-aminoacyl-L-glutamyl-L-glutamyl-L-tyrosyl- [tubulin] + H2O = C-terminal L-alpha-aminoacyl-L-glutamyl-L-glutamyl- [tubulin] + L-tyrosine; Xref=Rhea:RHEA:57444, Rhea:RHEA-COMP:16434, Rhea:RHEA-COMP:16435, ChEBI:CHEBI:15377, ChEBI:CHEBI:58315, ChEBI:CHEBI:149554, ChEBI:CHEBI:149555; EC=3.4.17.17; Evidence=; Interacts with SVBP; interaction enhances VASH1 tyrosine carboxypeptidase activity. Cytoplasm Secreted Note=Mainly localizes in the cytoplasm. Some fraction is secreted via a non-canonical secretion system; interaction with SVBP promotes secretion. Expressed at low level in proliferating endothelial cells at the sprouting front but highly expressed in nonproliferating endothelial cells in the termination zone. Ubiquitinated in vitro. Belongs to the transglutaminase-like superfamily. Vasohibin family. Sequence=BAC41121.1; Type=Frameshift; Evidence=; angiogenesis negative regulation of endothelial cell proliferation actin binding carboxypeptidase activity metallocarboxypeptidase activity protein binding extracellular region extracellular space cytoplasm endoplasmic reticulum proteolysis cell cycle cell cycle arrest peptidase activity response to wounding negative regulation of endothelial cell migration positive regulation of gene expression negative regulation of angiogenesis hydrolase activity negative regulation of blood vessel endothelial cell migration apical part of cell regulation of angiogenesis placenta blood vessel development labyrinthine layer blood vessel development negative regulation of lymphangiogenesis regulation of cellular senescence uc007ohx.1 uc007ohx.2 uc007ohx.3 uc007ohx.4 
ENSMUST00000021682.9 Angel1 ENSMUST00000021682.9 angel homolog 1 (from RefSeq NM_144524.2) ANGE1_MOUSE Angel1 ENSMUST00000021682.1 ENSMUST00000021682.2 ENSMUST00000021682.3 ENSMUST00000021682.4 ENSMUST00000021682.5 ENSMUST00000021682.6 ENSMUST00000021682.7 ENSMUST00000021682.8 Kiaa0759 NM_144524 Q5DU16 Q8VCU0 uc011ypj.1 uc011ypj.2 Belongs to the CCR4/nocturin family. 3'-5'-exoribonuclease activity nucleus endoplasmic reticulum cis-Golgi network cytosol eukaryotic initiation factor 4E binding protein domain specific binding perinuclear region of cytoplasm RNA phosphodiester bond hydrolysis, exonucleolytic uc011ypj.1 uc011ypj.2 
ENSMUST00000021684.6 Cyp46a1 ENSMUST00000021684.6 cytochrome P450, family 46, subfamily a, polypeptide 1, transcript variant 2 (from RefSeq NR_176848.1) CP46A_MOUSE Cyp46 Cyp46a1 ENSMUST00000021684.1 ENSMUST00000021684.2 ENSMUST00000021684.3 ENSMUST00000021684.4 ENSMUST00000021684.5 NR_176848 Q9WVK8 uc007ozo.1 uc007ozo.2 P450 monooxygenase that plays a major role in cholesterol homeostasis in the brain. Primarily catalyzes the hydroxylation (with S stereochemistry) at C-24 of cholesterol side chain, triggering cholesterol diffusion out of neurons and its further degradation (PubMed:10377398, PubMed:16505352, PubMed:28190002). By promoting constant cholesterol elimination in neurons, may activate the mevalonate pathway and coordinate the synthesis of new cholesterol and nonsterol isoprenoids involved in synaptic activity and learning (PubMed:16505352). Further hydroxylates cholesterol derivatives and hormone steroids on both the ring and side chain of these molecules, converting them into active oxysterols involved in lipid signaling and biosynthesis (By similarity). Acts as an epoxidase converting cholesta- 5,24-dien-3beta-ol/desmosterol into (24S),25-epoxycholesterol, an abundant lipid ligand of nuclear NR1H2 and NR1H3 receptors shown to promote neurogenesis in developing brain (By similarity). May also catalyze the oxidative metabolism of xenobiotics, such as clotrimazole (By similarity). Reaction=cholesterol + O2 + reduced [NADPH--hemoprotein reductase] = (24S)-hydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:22716, Rhea:RHEA-COMP:11964, Rhea:RHEA- COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16113, ChEBI:CHEBI:34310, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; EC=1.14.14.25; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22717; Evidence=; Reaction=cholestanol + O2 + reduced [NADPH--hemoprotein reductase] = (24S)-hydroxycholestanol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:53808, Rhea:RHEA-COMP:11964, Rhea:RHEA- COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:86570, ChEBI:CHEBI:137687; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:53809; Evidence=; Reaction=7-dehydrocholesterol + O2 + reduced [NADPH--hemoprotein reductase] = cholesta-5,7-dien-3beta,24S-diol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:53244, Rhea:RHEA- COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17759, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:137061; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:53245; Evidence=; Reaction=7-dehydrocholesterol + O2 + reduced [NADPH--hemoprotein reductase] = cholesta-5,7-dien-3beta,25-diol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:53240, Rhea:RHEA- COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17759, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:137057; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:53241; Evidence=; Reaction=desmosterol + O2 + reduced [NADPH--hemoprotein reductase] = (24Z),26-hydroxydesmosterol + H(+) + H2O + oxidized [NADPH-- hemoprotein reductase]; Xref=Rhea:RHEA:53236, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17737, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:137053; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:53237; Evidence=; Reaction=desmosterol + O2 + reduced [NADPH--hemoprotein reductase] = (24S)-25-epoxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:53232, Rhea:RHEA-COMP:11964, Rhea:RHEA- COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17737, ChEBI:CHEBI:41633, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:53233; Evidence=; Reaction=4beta-hydroxycholesterol + O2 + reduced [NADPH--hemoprotein reductase] = 4beta,24S-dihydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:46392, Rhea:RHEA- COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:85778, ChEBI:CHEBI:86087; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46393; Evidence=; Reaction=(24S)-hydroxycholesterol + O2 + reduced [NADPH--hemoprotein reductase] = (24S,25R)-24,26-dihydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:46388, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:34310, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:86165; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46389; Evidence=; Reaction=(24S)-hydroxycholesterol + O2 + reduced [NADPH--hemoprotein reductase] = 24S,25-dihydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:46384, Rhea:RHEA- COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:34310, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:86074; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46385; Evidence=; Reaction=7alpha-hydroxycholesterol + O2 + reduced [NADPH--hemoprotein reductase] = (24S)-7alpha-dihydroxycholesterol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:46380, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17500, ChEBI:CHEBI:37640, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46381; Evidence=; Reaction=O2 + progesterone + reduced [NADPH--hemoprotein reductase] = 17alpha-hydroxyprogesterone + H(+) + H2O + oxidized [NADPH-- hemoprotein reductase]; Xref=Rhea:RHEA:46308, Rhea:RHEA-COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17026, ChEBI:CHEBI:17252, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46309; Evidence=; Reaction=O2 + reduced [NADPH--hemoprotein reductase] + testosterone = 16beta,17beta-dihydroxyandrost-4-en-3-one + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:46304, Rhea:RHEA- COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17347, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:83027; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46305; Evidence=; Reaction=O2 + reduced [NADPH--hemoprotein reductase] + testosterone = 2-hydroxytestosterone + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:46300, Rhea:RHEA-COMP:11964, Rhea:RHEA- COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17347, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:86013; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46301; Evidence=; Reaction=O2 + reduced [NADPH--hemoprotein reductase] + testosterone = 6beta,17beta-dihydroxyandrost-4-en-3-one + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:46296, Rhea:RHEA- COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17347, ChEBI:CHEBI:34477, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46297; Evidence=; Name=heme; Xref=ChEBI:CHEBI:30413; Evidence=; Steroid metabolism; cholesterol degradation. Lipid metabolism; C21-steroid hormone metabolism. Endoplasmic reticulum membrane ; Single-pass membrane protein. Microsome membrane; Single-pass membrane protein. Postsynapse Presynapse Cell projection, dendrite Expressed in high level in the pyramidal cells of the hippocampus, Purkinje cells of the cerebellum, and neuronal cell bodies in layers II/III, V, and VI of the cortex. Expressed in hippocampal and cerebellar interneurons, in retinal ganglion cells, and in a subset of retinal cells localized to the inner nuclear layer (at protein level). Mutant mice are deficient in spatial, associative and motor learning. Belongs to the cytochrome P450 family. monooxygenase activity iron ion binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process cholesterol catabolic process xenobiotic metabolic process steroid metabolic process cholesterol metabolic process C21-steroid hormone metabolic process steroid hydroxylase activity membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen heme binding cell junction dendrite organelle membrane cholesterol 24-hydroxylase activity progesterone metabolic process cell projection intracellular membrane-bounded organelle synapse metal ion binding oxidation-reduction process presynapse postsynapse regulation of long-term synaptic potentiation uc007ozo.1 uc007ozo.2 
ENSMUST00000021685.8 Hhipl1 ENSMUST00000021685.8 hedgehog interacting protein-like 1 (from RefSeq NM_001044380.1) ENSMUST00000021685.1 ENSMUST00000021685.2 ENSMUST00000021685.3 ENSMUST00000021685.4 ENSMUST00000021685.5 ENSMUST00000021685.6 ENSMUST00000021685.7 HIPL1_MOUSE Hhip2 Kiaa1822 NM_001044380 Q14CI0 Q14DK5 Q3UGD3 Q3UU97 Q6ZPH6 uc007ozn.1 uc007ozn.2 uc007ozn.3 Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14DK5-1; Sequence=Displayed; Name=2; IsoId=Q14DK5-2; Sequence=VSP_030457, VSP_030458; Belongs to the HHIP family. catalytic activity scavenger receptor activity extracellular region endocytosis biological_process membrane uc007ozn.1 uc007ozn.2 uc007ozn.3 
ENSMUST00000021691.6 Degs2 ENSMUST00000021691.6 delta 4-desaturase, sphingolipid 2, transcript variant 1 (from RefSeq NM_027299.5) DEGS2_MOUSE Degs2 ENSMUST00000021691.1 ENSMUST00000021691.2 ENSMUST00000021691.3 ENSMUST00000021691.4 ENSMUST00000021691.5 NM_027299 Q3TR85 Q78JJ1 Q8R2F2 uc007pab.1 uc007pab.2 uc007pab.3 uc007pab.4 Bifunctional enzyme which acts both as a sphingolipid delta(4)-desaturase and a sphingolipid C4-monooxygenase. Reaction=a dihydroceramide + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = a phytoceramide + 2 Fe(III)-[cytochrome b5] + H2O; Xref=Rhea:RHEA:55808, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:139048, ChEBI:CHEBI:139051; EC=1.14.18.5; Evidence=; Reaction=an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acylsphing-4-enine + 2 Fe(III)-[cytochrome b5] + 2 H2O; Xref=Rhea:RHEA:46544, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:31488, ChEBI:CHEBI:52639; EC=1.14.19.17; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46545; Evidence=; Reaction=an N-acylsphinganine + 2 Fe(II)-[cytochrome b5] + 2 H(+) + O2 = an N-acyl-(4R)-4-hydroxysphinganine + 2 Fe(III)-[cytochrome b5] + H2O; Xref=Rhea:RHEA:46364, Rhea:RHEA-COMP:10438, Rhea:RHEA- COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:31488, ChEBI:CHEBI:31998; EC=1.14.18.5; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46365; Evidence=; Reaction=2 Fe(II)-[cytochrome b5] + 2 H(+) + N-octanoylsphinganine + O2 = 2 Fe(III)-[cytochrome b5] + H2O + N-octanoyl-4-hydroxysphinganine; Xref=Rhea:RHEA:43116, Rhea:RHEA-COMP:10438, Rhea:RHEA-COMP:10439, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:82841, ChEBI:CHEBI:82842; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43117; Evidence=; pH dependence: Optimum pH is 7.0-8.0. ; Membrane lipid metabolism; sphingolipid biosynthesis. Endoplasmic reticulum membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1 ; IsoId=Q8R2F2-1; Sequence=Displayed; Name=2 ; IsoId=Q8R2F2-2; Sequence=VSP_052629; Highly expressed in intestinal crypt cells and adjacent epithelial cells (at protein level). Belongs to the fatty acid desaturase type 1 family. DEGS subfamily. sphingosine hydroxylase activity endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process sphinganine metabolic process membrane integral component of membrane oxidoreductase activity sphingolipid biosynthetic process sphingolipid delta-4 desaturase activity ceramide biosynthetic process oxidation-reduction process uc007pab.1 uc007pab.2 uc007pab.3 uc007pab.4 
ENSMUST00000021692.9 Yy1 ENSMUST00000021692.9 YY1 transcription factor (from RefSeq NM_009537.4) ENSMUST00000021692.1 ENSMUST00000021692.2 ENSMUST00000021692.3 ENSMUST00000021692.4 ENSMUST00000021692.5 ENSMUST00000021692.6 ENSMUST00000021692.7 ENSMUST00000021692.8 NM_009537 Q00899 TYY1_MOUSE Ucrbp uc007pac.1 uc007pac.2 uc007pac.3 Multifunctional transcription factor that exhibits positive and negative control on a large number of cellular and viral genes by binding to sites overlapping the transcription start site. Binds to the consensus sequence 5'-CCGCCATNTT-3'; some genes have been shown to contain a longer binding motif allowing enhanced binding; the initial CG dinucleotide can be methylated greatly reducing the binding affinity. The effect on transcription regulation is depending upon the context in which it binds and diverse mechanisms of action include direct activation or repression, indirect activation or repression via cofactor recruitment, or activation or repression by disruption of binding sites or conformational DNA changes. Its activity is regulated by transcription factors and cytoplasmic proteins that have been shown to abrogate or completely inhibit YY1-mediated activation or repression. Binds to the upstream conserved region (UCR) (5'-CGCCATTTT- 3') of Moloney murine leukemia virus (MuLV). Acts synergistically with the SMAD1 and SMAD4 in bone morphogenetic protein (BMP)-mediated cardiac-specific gene expression (PubMed:15329343). Binds to SMAD binding elements (SBEs) (5'-GTCT/AGAC-3') within BMP response element (BMPRE) of cardiac activating regions (PubMed:15329343). Proposed to recruit the PRC2/EED-EZH2 complex to target genes that are transcriptional repressed. Involved in DNA repair. In vitro, binds to DNA recombination intermediate structures (Holliday junctions). Involved in spermatogenesis and may play a role in meiotic DNA double- strand break repair. Plays a role in regulating enhancer activation (By similarity). Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair; proposed to target the INO80 complex to YY1-responsive elements. Interacts with YAF2 through the region encompassing the first and second zinc fingers. Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the DBINO domain of INO80. Interacts with EED and EZH2; the interactions are indicative for an association with the PRC2/EED-EZH2 complex (By similarity). Found in a complex with SMAD1 and SMAD4 (PubMed:15329343). Interacts with SFMBT2 (PubMed:18024232). Found in a complex with YY1, SIN3A and HDAC1 (PubMed:21454521). Q00899; Q9JLN9: Mtor; NbExp=4; IntAct=EBI-6921536, EBI-1571628; Q00899; O70343: Ppargc1a; NbExp=5; IntAct=EBI-6921536, EBI-1371053; Q00899; Q8K4Q0: Rptor; NbExp=3; IntAct=EBI-6921536, EBI-4567273; Q00899; Q8CG47: Smc4; NbExp=2; IntAct=EBI-6921536, EBI-6921575; Q00899; P48432: Sox2; NbExp=2; IntAct=EBI-6921536, EBI-2313612; Nucleus Nucleus matrix Cytoplasm Note=Associated with the nuclear matrix. In testis, localized to heterochromatin of spermatocytes. Expressed in ovary and, at lower levels, in testis. At 7.5 dpc, highly expressed in the ectoplacental cone and, at lower levels, in the embryonic and extraembryonic ectoderm. At 14.5 dpc, highly expressed in placenta and yolk sac, and, at lower levels, in brain and heart. Transiently poly-ADP-ribosylated by PARP1 upon DNA damage, with the effect of decreasing affinity of YY1 to its cognate DNA binding sites. Ubiquitinated. Phosphorylation at Ser-120 by CK2 prevents proteolytic cleavage by caspase-7 (CASP7) during apoptosis. Proteolytically cleaved by caspase-7 (CASP7) in response to apoptosis. Phosphorylation at Ser-120 protects against proteolytic cleavage. Spermatocytes have a significant decrease in the global level of the heterochromatin markers and increase in the chromosomal double-strand break (DSB) signals at the leptotene/zygotene stages. Belongs to the YY transcription factor family. negative regulation of transcription from RNA polymerase II promoter four-way junction DNA binding double-strand break repair via homologous recombination nuclear chromatin RNA polymerase II core promoter proximal region sequence-specific DNA binding RNA polymerase II distal enhancer sequence-specific DNA binding core promoter proximal region sequence-specific DNA binding enhancer sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding transcription factor activity, sequence-specific DNA binding RNA binding protein binding nucleus nucleoplasm transcription factor complex cytoplasm DNA repair DNA recombination regulation of transcription, DNA-templated RNA localization cellular response to DNA damage stimulus spermatogenesis anterior/posterior pattern specification response to UV-C positive regulation of gene expression negative regulation of gene expression nuclear matrix cell differentiation Ino80 complex PcG protein complex negative regulation of interferon-beta production cellular response to UV response to prostaglandin F sequence-specific DNA binding transcription regulatory region DNA binding positive regulation of transcription from RNA polymerase II promoter SMAD binding metal ion binding camera-type eye morphogenesis chromosome organization negative regulation of cell growth involved in cardiac muscle cell development cellular response to interleukin-1 negative regulation of pri-miRNA transcription from RNA polymerase II promoter uc007pac.1 uc007pac.2 uc007pac.3 
ENSMUST00000021693.4 Slc25a29 ENSMUST00000021693.4 solute carrier family 25 (mitochondrial carrier, palmitoylcarnitine transporter), member 29 (from RefSeq NM_181328.3) ENSMUST00000021693.1 ENSMUST00000021693.2 ENSMUST00000021693.3 NM_181328 Ornt3 Q8BL03 Q922X4 S2529_MOUSE uc007pad.1 uc007pad.2 uc007pad.3 Mitochondrial transporter of arginine, lysine, homoarginine, methylarginine (By similarity). Transports with a much lesser extent, ornithine and histidine (PubMed:19287344). Does not transport carnitine nor acylcarnitines. Functions by both counter-exchange and uniport mechanisms. Plays a physiolocical role in the import of basic amino acids into mitochondria for mitochondrial protein synthesis and amino acid degradation (By similarity). Reaction=L-arginine(in) + L-lysine(out) = L-arginine(out) + L- lysine(in); Xref=Rhea:RHEA:70827, ChEBI:CHEBI:32551, ChEBI:CHEBI:32682; Evidence=; Reaction=L-arginine(in) + L-histidine(out) = L-arginine(out) + L- histidine(in); Xref=Rhea:RHEA:71063, ChEBI:CHEBI:32682, ChEBI:CHEBI:57595; Evidence=; Reaction=L-arginine(out) + L-ornithine(in) = L-arginine(in) + L- ornithine(out); Xref=Rhea:RHEA:34991, ChEBI:CHEBI:32682, ChEBI:CHEBI:46911; Evidence=; Reaction=L-arginine(out) + L-homoarginine(in) = L-arginine(in) + L- homoarginine(out); Xref=Rhea:RHEA:72799, ChEBI:CHEBI:32682, ChEBI:CHEBI:143006; Evidence=; Reaction=L-arginine(out) + N(omega)-methyl-L-arginine(in) = L- arginine(in) + N(omega)-methyl-L-arginine(out); Xref=Rhea:RHEA:72803, ChEBI:CHEBI:32682, ChEBI:CHEBI:114953; Evidence=; Reaction=L-arginine(in) = L-arginine(out); Xref=Rhea:RHEA:32143, ChEBI:CHEBI:32682; Evidence=; Reaction=L-lysine(in) = L-lysine(out); Xref=Rhea:RHEA:70935, ChEBI:CHEBI:32551; Evidence=; Reaction=L-ornithine(in) = L-ornithine(out); Xref=Rhea:RHEA:71199, ChEBI:CHEBI:46911; Evidence=; Reaction=L-histidine(out) = L-histidine(in); Xref=Rhea:RHEA:72807, ChEBI:CHEBI:57595; Evidence=; Mitochondrion inner membrane ; Multi-pass membrane protein Widely expressed, with highest levels in the brain, including cortex, cerebellum, hippocampus and hypothalamus, and moderate levels in liver, kidney, heart and testis. By partial hepactectomy and fasting. Belongs to the mitochondrial carrier (TC 2.A.29) family. Was initially proposed to transport palmitoylcarnitine, based on complementation experiments in yeast mutants lacking CRC1 and CIT2 and release of radiolabeled carnitine from mitochondria incubated with radiolabeled palmitoylcarnithine (PubMed:12882971). Later experiments done primarily with human indicate the protein functions instead as transporter of basic amino acids (By similarity). high-affinity arginine transmembrane transporter activity high-affinity lysine transmembrane transporter activity mitochondrion mitochondrial inner membrane acyl carnitine transport amino acid transport basic amino acid transmembrane transporter activity acyl carnitine transmembrane transporter activity ornithine transport membrane integral component of membrane transmembrane transporter activity transmembrane transport L-histidine transmembrane transport acyl carnitine transmembrane transport L-arginine transmembrane transport L-lysine transmembrane transport mitochondrial L-ornithine transmembrane transport carnitine transport uc007pad.1 uc007pad.2 uc007pad.3 
ENSMUST00000021706.11 Traf3 ENSMUST00000021706.11 TNF receptor-associated factor 3, transcript variant 1 (from RefSeq NM_011632.3) B2RPW3 Cap-1 Craf1 ENSMUST00000021706.1 ENSMUST00000021706.10 ENSMUST00000021706.2 ENSMUST00000021706.3 ENSMUST00000021706.4 ENSMUST00000021706.5 ENSMUST00000021706.6 ENSMUST00000021706.7 ENSMUST00000021706.8 ENSMUST00000021706.9 NM_011632 Q60803 Q62380 TRAF3_MOUSE Traf3 Trafamn uc007pcl.1 uc007pcl.2 uc007pcl.3 uc007pcl.4 Cytoplasmic E3 ubiquitin ligase that regulates various signaling pathways, such as the NF-kappa-B, mitogen-activated protein kinase (MAPK) and interferon regulatory factor (IRF) pathways, and thus controls a lot of biological processes in both immune and non-immune cell types (PubMed:17015635). In TLR and RLR signaling pathways, acts as an E3 ubiquitin ligase promoting the synthesis of 'Lys-63'-linked polyubiquitin chains on several substrates such as ASC that lead to the activation of the type I interferon response or the inflammasome (PubMed:19898473, PubMed:23871208, PubMed:26305951, PubMed:23150880). Following the activation of certain TLRs such as TLR4, acts as a negative NF-kappa-B regulator, possibly to avoid unregulated inflammatory response, and its degradation via 'Lys-48'-linked polyubiquitination is required for MAPK activation and production of inflammatory cytokines (PubMed:16306937). Alternatively, when TLR4 orchestrates bacterial expulsion, TRAF3 undergoes 'Lys-33'-linked polyubiquitination and subsequently binds to RALGDS, mobilizing the exocyst complex to rapidly expel intracellular bacteria back for clearance. Acts also as a constitutive negative regulator of the alternative NF-kappa-B pathway, which controls B-cell survival and lymphoid organ development (PubMed:17723217). Required for normal antibody isotype switching from IgM to IgG (PubMed:19228877). Plays a role T-cell dependent immune responses (PubMed:8934568). Down-regulates proteolytic processing of NFKB2, and thereby inhibits non-canonical activation of NF-kappa-B. Promotes ubiquitination and proteasomal degradation of MAP3K14. Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Homotrimer. Heterotrimer with TRAF2 and TRAF5. Interacts with LTBR/TNFRSF3, TNFRSF4, TNFRSF5/CD40, TNFRSF8/CD30, TNFRSF13C TNFRSF17/BCMA, TLR4 and EDAR. Interacts with MAP3K5, MAP3K14, TRAIP/TRIP, TDP2/TTRAP, TANK/ITRAF and TRAF3IP1. Interaction with TNFRSF5/CD40 is modulated by TANK/ITRAF, which competes for the same binding site. Interacts with TICAM1. Interacts with TRAFD1. Interacts with OTUB1, OTUB2 and OTUD5. Interacts with RNF216, OPTN and TBK1 (By similarity). Identified in a complex with TRAF2, MAP3K14 and BIRC3. Upon exposure to bacterial lipopolysaccharide (LPS), recruited to a transient complex containing TLR4, TRAF3, TRAF6, IKBKG, MAP3K7, MYD88, TICAM1, BIRC2, BIRC3 and UBE2N. Interacts (via RING-type zinc finger domain) with SRC. Interacts with CARD14 (By similarity). Interacts (via MATH domain) with PTPN22; the interaction promotes TRAF3 polyubiquitination (PubMed:23871208). Interacts with MAVS (PubMed:23150880). Directly interacts with DDX3X; this interaction stimulates TRAF3 'Lys-63' ubiquitination (By similarity). Interacts with IRF3 (By similarity). Interacts with IKBKE in the course of viral infection (By similarity). Interacts with TRIM35 (By similarity). Interacts with GAPDH; promoting TRAF3 ubiquitination (By similarity). Interacts with PPP3CA and PPP3CB (PubMed:26029823). Interacts with RALGDS (By similarity). Interacts with FBXO11 (By similarity). Q60803; Q8VCF0: Mavs; NbExp=4; IntAct=EBI-520135, EBI-3862816; Q60803; P22366: Myd88; NbExp=5; IntAct=EBI-520135, EBI-525108; Q60803; Q80UF7: Ticam1; NbExp=2; IntAct=EBI-520135, EBI-3649271; Q60803; O35305: Tnfrsf11a; NbExp=3; IntAct=EBI-520135, EBI-647362; Q60803; P39429: Traf2; NbExp=2; IntAct=EBI-520135, EBI-520016; Q60803; P62991: Ubc; NbExp=2; IntAct=EBI-520135, EBI-413074; Q60803; Q9Y2R2: PTPN22; Xeno; NbExp=5; IntAct=EBI-520135, EBI-1211241; Q60803; Q9UHD2: TBK1; Xeno; NbExp=2; IntAct=EBI-520135, EBI-356402; Cytoplasm Endosome Mitochondrion Note=Undergoes endocytosis together with TLR4 upon LPS signaling (PubMed:19898473). Co-localized to mitochondria with TRIM35 (By similarity). Detected in bone marrow macrophages and spleen B- cells (at protein level). In adult, highest in brain. Also found in kidney, heart, thymus, spleen, lung, muscle, testis and ovary. Not found in liver. In the embryo, expressed from 6.5 dpc with highest levels found between 11.5 dpc and 13.5 dpc. At late stages of gestation, from 14.5 dpc, only low levels are detected. The MATH/TRAF domain binds to receptor cytoplasmic domains. The Ring-type zinc finger domain is required for its function in down-regulation of NFKB2 proteolytic processing. Undergoes 'Lys-48'-linked polyubiquitination, leading to its proteasomal degradation in response to signaling by TNFSF13B, TLR4 or through CD40 (PubMed:19898473). 'Lys-48'-linked polyubiquitinated form is deubiquitinated by OTUD7B, preventing TRAF3 proteolysis and over- activation of non-canonical NF-kappa-B (PubMed:23334419). Undergoes 'Lys-63'-linked ubiquitination during early stages of virus infection, and 'Lys-48'-linked ubiquitination during later stages. Undergoes both 'Lys-48'-linked and 'Lys-63'-linked ubiquitination in response to TLR3 and TLR4 signaling. 'Lys-63'-linked ubiquitination can be mediated by TRIM35. Deubiquitinated by OTUB1, OTUB2 and OTUD5. Undergoes 'Lys-63'- linked deubiquitination by MYSM1 to terminate the pattern-recognition receptors/PRRs pathways (PubMed:26474655). Ubiquitinated at Lys-328 by the SCF(FBXL2) complex, leading to its degradation by the proteasome (PubMed:23542741). Undergoes 'Lys-48'-linked polyubiquitination, leading to its proteasomal degradation in response to signaling by TNFSF13B, TLR4 or through CD40. 'Lys-48'-linked polyubiquitinated form is deubiquitinated by OTUD7B, preventing TRAF3 proteolysis and over-activation of non- canonical NF-kappa-B. Undergoes 'Lys-63'-linked ubiquitination during early stages of virus infection, and 'Lys-48'-linked ubiquitination during later stages. Undergoes both 'Lys-48'-linked and 'Lys-63'-linked ubiquitination in response to TLR3 and TLR4 signaling. 'Lys-63'-linked ubiquitination can be mediated by TRIM35. Deubiquitinated by OTUB1, OTUB2 and OTUD5. Undergoes 'Lys-63'-linked deubiquitination by MYSM1 to terminate the pattern-recognition receptors/PRRs pathways (By similarity). Undergoes also 'Lys-29'-linked ubiquitination on Cys-55 and Cys-123 by NEDD4L; leading to increased 'Lys-48'- and 'Lys-63'- linked ubiquitination as well as increased binding to TBK1. TLR4 signals emanating from bacteria containing vesicles trigger 'Lys-33'- linked polyubiquitination that promotes the assembly of the exocyst complex thereby connecting innate immune signaling to the cellular trafficking apparatus (By similarity). Deubiquitinated by USP25 during viral infection, leading to TRAF3 stabilization and type I interferon production (PubMed:26305951). 'Lys-63'-linked ubiquitination by FBXO11 in a NEDD8-dependent manner promotes the amplification of IFN-I signaling (By similarity). Newborns appear normal, but do not thrive. Their blood glucose levels and leukocyte levels decrease steadily, the spleen size is dramatically reduced, and they become progressively runted. They die about ten days after birth. Mice exhibit abnormally high MAP3K14 protein levels and constitutive proteolytic processing of NFKB2/p100, leading to constitutive activation of NF-kappa-B. Belongs to the TNF receptor-associated factor family. A subfamily. regulation of cytokine production toll-like receptor signaling pathway immune system process tumor necrosis factor receptor binding protein binding cytoplasm endosome apoptotic process signal transduction Toll signaling pathway zinc ion binding cytoplasmic side of plasma membrane transferase activity protein kinase binding protein phosphatase binding regulation of proteolysis ubiquitin protein ligase binding thioesterase binding negative regulation of NF-kappaB transcription factor activity regulation of interferon-beta production macromolecular complex tumor necrosis factor-mediated signaling pathway CD40 receptor complex regulation of apoptotic process innate immune response metal ion binding regulation of defense response to virus uc007pcl.1 uc007pcl.2 uc007pcl.3 uc007pcl.4 
ENSMUST00000021707.8 Amn ENSMUST00000021707.8 amnionless (from RefSeq NM_033603.3) AMNLS_MOUSE ENSMUST00000021707.1 ENSMUST00000021707.2 ENSMUST00000021707.3 ENSMUST00000021707.4 ENSMUST00000021707.5 ENSMUST00000021707.6 ENSMUST00000021707.7 NM_033603 Q5I0U1 Q99JB7 Q99MP9 uc007pcp.1 uc007pcp.2 uc007pcp.3 uc007pcp.4 This gene encodes a type I transmembrane protein. The encoded protein is an essential component of the cubulin receptor complex which is thought to play a role in coordinating growth and patterning of the embryo. This protein is thought to modulate a bone morphogenetic protein (BMP) signaling pathway. A homoygous mutation in the mouse gene results in the lack of an amnion in embryos. Mutations in the human gene are associated with Megaloblastic Anemia-1. [provided by RefSeq, Sep 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF320619.1, AK017204.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849376 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Membrane-bound component of the endocytic receptor formed by AMN and CUBN. Required for normal CUBN glycosylation and trafficking to the cell surface (PubMed:15342463). The complex formed by AMN and CUBN is required for efficient absorption of vitamin B12 (By similarity). Required for normal CUBN-mediated protein transport in the kidney (PubMed:15342463). Interacts (via extracellular region) with CUBN/cubilin (PubMed:15342463). This gives rise to a huge complex containing one AMN chain and three CUBN chains (By similarity). Apical cell membrane ; Single-pass type I membrane protein Cell membrane ; Single-pass type I membrane protein Endosome membrane Membrane, coated pit Expressed in polarized epithelial cells which are specialized in resorption or transport, specifically kidney proximal tubules and intestinal epithelium. Detected in primitive endoderm at 4.5 dpc, and on the apical surface of the visceral endoderm from 5.5 dpc to 8.5 dpc. Expressed in mesonephric tubules at 11.5-12.5 dpc and in the metanephric kidney beginning at 14.5 dpc. Expressed in the intestine from 16.5 dpc. The complex formed by AMN and CUBN is composed of a 400 Angstrom long stem and a globular crown region. The stem region is probably formed by AMN and the CUBN N-terminal region, including the EGF-like domains. The crown is probably formed by the CUBN CUB domains. N-glycosylated. A soluble form arises by proteolytic removal of the membrane anchor. Full embryonic lethality at about 10.5 dpc with failure of primitive middle streak assembly and absence of trunk mesoderm formation. The role of Amn in embryonic development seems to be species specific. In mice, null mutations lead to embryonic lethality. Human mutations give rise to much milder symptoms. receptor binding extracellular space endosome plasma membrane clathrin-coated pit receptor-mediated endocytosis multicellular organism development excretion protein localization endosome membrane protein transport cobalamin transport membrane integral component of membrane apical plasma membrane endocytic vesicle brush border membrane macromolecular complex Golgi to plasma membrane protein transport apical part of cell uc007pcp.1 uc007pcp.2 uc007pcp.3 uc007pcp.4 
ENSMUST00000021714.9 Zfyve21 ENSMUST00000021714.9 zinc finger, FYVE domain containing 21, transcript variant 1 (from RefSeq NM_026752.4) A3KML1 ENSMUST00000021714.1 ENSMUST00000021714.2 ENSMUST00000021714.3 ENSMUST00000021714.4 ENSMUST00000021714.5 ENSMUST00000021714.6 ENSMUST00000021714.7 ENSMUST00000021714.8 NM_026752 Q3TBQ9 Q8VCM3 Q9D1E2 ZFY21_MOUSE uc007pea.1 uc007pea.2 uc007pea.3 uc007pea.4 Plays a role in cell adhesion, and thereby in cell motility which requires repeated formation and disassembly of focal adhesions. Regulates microtubule-induced PTK2/FAK1 dephosphorylation, an event important for focal adhesion disassembly, as well as integrin beta- 1/ITGB1 cell surface expression (By similarity). Interacts with PTK2/FAK1. Cell junction, focal adhesion. Cytoplasmic vesicle Endosome Widely expressed. The FYVE-type zinc finger mediates interaction with PTK2/FAK1, and also interaction with PI(3)P and association with endosomes. The C-terminal region exhibits a structure similar to canonical PH domains, but lacks a positively charged interface to bind phosphatidylinositol phosphate. Sequence=AAH19521.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=AAI32249.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=AAI32251.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAB22923.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; molecular_function cellular_component endosome focal adhesion biological_process cell junction cytoplasmic vesicle metal ion binding uc007pea.1 uc007pea.2 uc007pea.3 uc007pea.4 
ENSMUST00000021715.6 Xrcc3 ENSMUST00000021715.6 X-ray repair complementing defective repair in Chinese hamster cells 3 (from RefSeq NM_028875.4) ENSMUST00000021715.1 ENSMUST00000021715.2 ENSMUST00000021715.3 ENSMUST00000021715.4 ENSMUST00000021715.5 NM_028875 Q9CXE6 XRCC3_MOUSE uc007pdz.1 uc007pdz.2 uc007pdz.3 uc007pdz.4 This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene functionally complements Chinese hamster irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and is chromosomally unstable. Allelic variants in the human gene are associated with susceptibility to breast cancer and cutaneous malignant melanoma. [provided by RefSeq, Sep 2015]. ##Evidence-Data-START## Transcript exon combination :: AK014491.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164143 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD21 paralog protein complex CX3 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, CX3 acts downstream of RAD51 recruitment; the complex binds predominantly to the intersection of the four duplex arms of the Holliday junction (HJ) and to junctions of replication forks. Involved in HJ resolution and thus in processing HR intermediates late in the DNA repair process; the function may be linked to the CX3 complex and seems to involve GEN1 during mitotic cell cycle progression. Part of a PALB2-scaffolded HR complex containing BRCA2 and RAD51C and which is thought to play a role in DNA repair by HR. Plays a role in regulating mitochondrial DNA copy number under conditions of oxidative stress in the presence of RAD51 and RAD51C (By similarity). Interacts with RAD51C and RAD51. Part of the CX3 complex consisting of RAD51C and XRCC3; the complex has a ring-like structure arranged into a flat disc around a central channel; CX3 can interact with RAD51 in vitro. Forms a complex with FANCD2, BRCA2 and phosphorylated FANCG. Interacts with SWSAP1 and ZSWIM7; involved in homologous recombination repair. Interacts directly with PALB2 which may serve as a scaffold for a HR complex containing PALB2, BRCA2, RAD51C, RAD51 and XRCC3 (By similarity). Nucleus Cytoplasm Cytoplasm, perinuclear region Mitochondrion matrix Note=Accumulates in discrete nuclear foci prior to DNA damage, and these foci persist throughout the time course of DNA repair. Belongs to the RecA family. RAD51 subfamily. nucleotide binding four-way junction DNA binding telomere maintenance via recombination double-strand break repair via homologous recombination DNA binding ATP binding nucleus nucleoplasm replication fork cytoplasm mitochondrion mitochondrial matrix cytosol DNA repair DNA recombination cellular response to DNA damage stimulus DNA-dependent ATPase activity crossover junction endodeoxyribonuclease activity response to organic substance regulation of centrosome duplication Rad51C-XRCC3 complex interstrand cross-link repair double-strand break repair via synthesis-dependent strand annealing perinuclear region of cytoplasm resolution of mitotic recombination intermediates positive regulation of mitotic cell cycle spindle assembly checkpoint t-circle formation uc007pdz.1 uc007pdz.2 uc007pdz.3 uc007pdz.4 
ENSMUST00000021719.7 Atp5mj ENSMUST00000021719.7 ATP synthase membrane subunit j, transcript variant 1 (from RefSeq NM_027360.3) ATP68_MOUSE Atp5mpl ENSMUST00000021719.1 ENSMUST00000021719.2 ENSMUST00000021719.3 ENSMUST00000021719.4 ENSMUST00000021719.5 ENSMUST00000021719.6 Mp68 NM_027360 P56379 uc007pef.1 uc007pef.2 uc007pef.3 Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Minor subunit required to maintain the ATP synthase population in the mitochondria. Component of an ATP synthase complex composed of ATP5PB, ATP5MC1, ATP5F1E, ATP5PD, ATP5ME, ATP5PF, ATP5MF, MT-ATP6, MT-ATP8, ATP5F1A, ATP5F1B, ATP5F1D, ATP5F1C, ATP5PO, ATP5MG, ATP5MK and ATP5MPL. Mitochondrion membrane ; Single-pass membrane protein Belongs to the small mitochondrial proteolipid family. molecular_function mitochondrion mitochondrial proton-transporting ATP synthase complex biological_process membrane integral component of membrane mitochondrial membrane uc007pef.1 uc007pef.2 uc007pef.3 
ENSMUST00000021726.8 Adss1 ENSMUST00000021726.8 adenylosuccinate synthase 1 (from RefSeq NM_007421.2) ADSS1 ADSSL1 Adss1 Adssl1 ENSMUST00000021726.1 ENSMUST00000021726.2 ENSMUST00000021726.3 ENSMUST00000021726.4 ENSMUST00000021726.5 ENSMUST00000021726.6 ENSMUST00000021726.7 NM_007421 Q3UBP0 Q3UBP0_MOUSE uc007peu.1 uc007peu.2 uc007peu.3 uc007peu.4 Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first commited step in the biosynthesis of AMP from IMP. Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP. Plays an important role in the de novo pathway of purine nucleotide biosynthesis. Reaction=GTP + IMP + L-aspartate = GDP + 2 H(+) + N(6)-(1,2- dicarboxyethyl)-AMP + phosphate; Xref=Rhea:RHEA:15753, ChEBI:CHEBI:15378, ChEBI:CHEBI:29991, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:57567, ChEBI:CHEBI:58053, ChEBI:CHEBI:58189; EC=6.3.4.4; Evidence= Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Note=Binds 1 Mg(2+) ion per subunit. ; Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 1/2. Homodimer. Cytoplasm Belongs to the adenylosuccinate synthetase family. nucleotide binding magnesium ion binding GTPase activity adenylosuccinate synthase activity GTP binding cytoplasm purine nucleotide biosynthetic process AMP biosynthetic process aspartate metabolic process glutamine metabolic process purine ribonucleoside monophosphate biosynthetic process response to muscle activity ligase activity cellular response to drug response to starvation protein homodimerization activity 'de novo' AMP biosynthetic process IMP metabolic process metal ion binding actin filament binding cellular response to electrical stimulus uc007peu.1 uc007peu.2 uc007peu.3 uc007peu.4 
ENSMUST00000021728.12 Siva1 ENSMUST00000021728.12 SIVA1, apoptosis-inducing factor, transcript variant 1 (from RefSeq NM_013929.2) ENSMUST00000021728.1 ENSMUST00000021728.10 ENSMUST00000021728.11 ENSMUST00000021728.2 ENSMUST00000021728.3 ENSMUST00000021728.4 ENSMUST00000021728.5 ENSMUST00000021728.6 ENSMUST00000021728.7 ENSMUST00000021728.8 ENSMUST00000021728.9 NM_013929 O54926 Q3U6J2 Q921I8 Q9CWL1 Q9R1Q0 Q9R1Q1 SIVA_MOUSE Siva uc007pev.1 uc007pev.2 uc007pev.3 uc007pev.4 Induces CD27-mediated apoptosis. Inhibits BCL2L1 isoform Bcl- x(L) anti-apoptotic activity. Inhibits activation of NF-kappa-B and promotes T-cell receptor-mediated apoptosis (By similarity). Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Isoform 1 binds 3 zinc ions. Isoform 2 binds 2 zinc ions. ; Binds through its N-terminal region to the C-terminus of CD27 and to PXMP2/PMP22. Binds to the C-terminus of TNFRSF18/GITR. Isoform 1 binds to BCL2L1/BCLX isoform Bcl-x(L) but not to BAX. Cytoplasm. Nucleus Note=In the nucleus, accumulates in dot-like structures. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Siva-1; IsoId=O54926-1; Sequence=Displayed; Name=2; Synonyms=Siva-2; IsoId=O54926-2; Sequence=VSP_007526; Highly expressed in testis, heart, liver, lung, and muscle, and less in kidney, spleen and brain. By p53, camptothecin, stroke injury and infection with coxsackievirus B3. This up-regulation is sufficient to induce apoptosis in neural tissue. Phosphorylated by ABL2/ARG in response to oxidative stress. [Isoform 2]: Mouse isoform 2 has been shown to have no pro-apoptotic activity. virus receptor activity tumor necrosis factor receptor binding CD27 receptor binding nucleus nucleoplasm cytoplasm mitochondrion apoptotic process activation-induced cell death of T cells zinc ion binding negative regulation of NF-kappaB transcription factor activity viral entry into host cell metal ion binding extrinsic apoptotic signaling pathway positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway uc007pev.1 uc007pev.2 uc007pev.3 uc007pev.4 
ENSMUST00000021729.9 Gpr132 ENSMUST00000021729.9 G protein-coupled receptor 132 (from RefSeq NM_019925.4) ENSMUST00000021729.1 ENSMUST00000021729.2 ENSMUST00000021729.3 ENSMUST00000021729.4 ENSMUST00000021729.5 ENSMUST00000021729.6 ENSMUST00000021729.7 ENSMUST00000021729.8 G2a GP132_MOUSE NM_019925 Q0VBS4 Q3U5A4 Q9Z282 uc007pfk.1 uc007pfk.2 uc007pfk.3 May be a receptor for oxidized free fatty acids derived from linoleic and arachidonic acids such as 9-hydroxyoctadecadienoic acid (9-HODE). Activates a G alpha protein, most likely G alpha(q). May be involved in apoptosis. Functions at the G2/M checkpoint to delay mitosis. May function as a sensor that monitors the oxidative states and mediates appropriate cellular responses such as secretion of paracrine signals and attenuation of proliferation. May mediate ths accumulation of intracellular inositol phosphates at acidic pH through proton-sensing activity (By similarity). Cell membrane ; Multi-pass membrane protein Note=Internalized and accumulated in endosomal compartments. LPC triggers the relocalization from the endosomal compartment to the cell surface. Highly expressed in hematopoietic tissues rich in lymphocytes like spleen and thymus. Weakly expressed in heart and lung. Highly expressed in infiltrating macrophages within atherosclerotic lesions. By DNA-damaging agents. Belongs to the G-protein coupled receptor 1 family. G1/S transition of mitotic cell cycle G-protein coupled receptor activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway negative regulation of G2/M transition of mitotic cell cycle membrane integral component of membrane uc007pfk.1 uc007pfk.2 uc007pfk.3 
ENSMUST00000021734.9 Gng4 ENSMUST00000021734.9 guanine nucleotide binding protein (G protein), gamma 4, transcript variant 1 (from RefSeq NM_010317.3) ENSMUST00000021734.1 ENSMUST00000021734.2 ENSMUST00000021734.3 ENSMUST00000021734.4 ENSMUST00000021734.5 ENSMUST00000021734.6 ENSMUST00000021734.7 ENSMUST00000021734.8 GBG4_MOUSE Gngt4 NM_010317 P50153 uc007pml.1 uc007pml.2 uc007pml.3 uc007pml.4 This gene encodes the gamma subunit of the heterotrimeric G-proteins that are comprised of alpha, beta and gamma subunits. Upon activation by G protein-coupled receptors, the beta-gamma heterodimer dissociates from the alpha subunit to activate downstream signaling events. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]. Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. G proteins are composed of 3 units, alpha, beta and gamma. Interacts with beta-1 and beta-2, but not with beta-3 (By similarity). Interacts with KCNK1. Cell membrane ; Lipid-anchor ; Cytoplasmic side Brain. Belongs to the G protein gamma family. GTPase activity heterotrimeric G-protein complex plasma membrane signal transduction G-protein coupled receptor signaling pathway membrane negative regulation of cell growth G-protein beta/gamma-subunit complex G-protein beta-subunit binding uc007pml.1 uc007pml.2 uc007pml.3 uc007pml.4 
ENSMUST00000021738.10 Gpr137b ENSMUST00000021738.10 G protein-coupled receptor 137B (from RefSeq NM_031999.2) A0A0R4J022 A0A0R4J022_MOUSE ENSMUST00000021738.1 ENSMUST00000021738.2 ENSMUST00000021738.3 ENSMUST00000021738.4 ENSMUST00000021738.5 ENSMUST00000021738.6 ENSMUST00000021738.7 ENSMUST00000021738.8 ENSMUST00000021738.9 Gpr137b NM_031999 uc007pmd.1 uc007pmd.2 uc007pmd.3 uc007pmd.4 Membrane ; Multi- pass membrane protein membrane integral component of membrane uc007pmd.1 uc007pmd.2 uc007pmd.3 uc007pmd.4 
ENSMUST00000021750.15 Ryr2 ENSMUST00000021750.15 ryanodine receptor 2, cardiac (from RefSeq NM_023868.2) E9Q401 ENSMUST00000021750.1 ENSMUST00000021750.10 ENSMUST00000021750.11 ENSMUST00000021750.12 ENSMUST00000021750.13 ENSMUST00000021750.14 ENSMUST00000021750.2 ENSMUST00000021750.3 ENSMUST00000021750.4 ENSMUST00000021750.5 ENSMUST00000021750.6 ENSMUST00000021750.7 ENSMUST00000021750.8 ENSMUST00000021750.9 NM_023868 O70181 Q62174 Q62197 Q9ERN6 RYR2_MOUSE Ryr2 uc007pld.1 uc007pld.2 uc007pld.3 Cytosolic calcium-activated calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytosol and thereby plays a key role in triggering cardiac muscle contraction. Aberrant channel activation can lead to cardiac arrhythmia. In cardiac myocytes, calcium release is triggered by increased Ca(2+) cytosolic levels due to activation of the L-type calcium channel CACNA1C. The calcium channel activity is modulated by formation of heterotetramers with RYR3. Required for cellular calcium ion homeostasis. Required for embryonic heart development. Reaction=Ca(2+)(in) = Ca(2+)(out); Xref=Rhea:RHEA:29671, ChEBI:CHEBI:29108; Evidence= The calcium release is activated by increased cytosolic calcium levels, by nitric oxyde (NO), caffeine and ATP. Channel activity is modulated by the alkaloid ryanodine that binds to the open Ca-release channel with high affinity. At low concentrations, ryanodine maintains the channel in an open conformation. High ryanodine concentrations inhibit channel activity. Channel activity is regulated by calmodulin (CALM). Channel activity is inhibited by magnesium ions, possibly by competition for calcium binding sites. Homotetramer. Can also form heterotetramers with RYR1 and RYR3. Interacts with CALM and S100A1; these interactions regulate channel activity. Identified in a complex composed of RYR2, FKBP1B, PKA catalytic subunit, PRKAR2A, AKAP6, and the protein phosphatases PP2A and PP1. Interacts directly with FKBP1B, PKA, PP1 and PP2A (By similarity). Interacts with FKBP1A and FKBP1B; these interactions may stabilize the channel in its closed state and prevent Ca(2+) leaks. Interacts with SELENON (By similarity). Identified in a complex, composed of FSD2, CMYA5 and RYR2 (PubMed:28740084). E9Q401; Q6PHZ2: Camk2d; NbExp=2; IntAct=EBI-643628, EBI-2308458; E9Q401; Q9Z2I2: Fkbp1b; NbExp=3; IntAct=EBI-643628, EBI-6379859; E9Q401; Q8K4S1: Plce1; NbExp=2; IntAct=EBI-643628, EBI-6902760; E9Q401; E9Q401: Ryr2; NbExp=7; IntAct=EBI-643628, EBI-643628; E9Q401; P23327: HRC; Xeno; NbExp=3; IntAct=EBI-643628, EBI-9639760; Sarcoplasmic reticulum membrane ; Multi-pass membrane protein Highly expressed in heart, lung, cerebellum and brain. Detected at lower levels in adrenal gland, stomach, thymus, esophagus and ovary. The calcium release channel activity resides in the C-terminal region while the remaining part of the protein resides in the cytoplasm. Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2807 and Ser-2813 increases the open probability of the calcium channel. Phosphorylation is increased in failing heart, leading to calcium leaks and increased cytoplasmic Ca(2+) levels. Phosphorylation at Ser-2030 by PKA enhances the response to lumenal calcium. Embryonically lethal. Embryos die at about 10 dpc, due to defects in heart tube development. Cardiac myotubes display enlarged rough endoplasmic reticulum and cytoplasmic vesicles that contain high levels of Ca(2+). Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR2 subfamily. response to hypoxia regulation of heart rate embryonic heart tube morphogenesis left ventricular cardiac muscle tissue morphogenesis cardiac muscle hypertrophy ion channel activity ryanodine-sensitive calcium-release channel activity calcium channel activity calcium ion binding detection of calcium ion protein binding calmodulin binding nuclear envelope cytoplasm endoplasmic reticulum smooth endoplasmic reticulum plasma membrane ion transport calcium ion transport cellular calcium ion homeostasis multicellular organism development positive regulation of heart rate regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion regulation of cardiac muscle contraction by calcium ion signaling release of sequestered calcium ion into cytosol by sarcoplasmic reticulum response to muscle activity calcium-release channel activity membrane integral component of membrane sarcoplasmic reticulum calcium-mediated signaling enzyme binding protein kinase binding sarcomere Z disc cytoplasmic vesicle membrane response to caffeine extrinsic component of cytoplasmic side of plasma membrane A band response to magnesium ion macromolecular complex sarcoplasmic reticulum membrane ion transmembrane transport protein kinase A catalytic subunit binding protein kinase A regulatory subunit binding calcium channel complex calcium-mediated signaling using intracellular calcium source response to muscle stretch sarcolemma identical protein binding neuron projection protein self-association suramin binding calcium-induced calcium release activity release of sequestered calcium ion into cytosol positive regulation of sequestering of calcium ion regulation of cytosolic calcium ion concentration negative regulation of cytosolic calcium ion concentration response to calcium ion response to redox state transmembrane transport regulation of cardiac muscle contraction cardiac muscle contraction cytosolic calcium ion transport calcium ion transport into cytosol sarcoplasmic reticulum calcium ion transport calcium ion transmembrane transport cellular response to caffeine manganese ion transmembrane transport cellular response to epinephrine stimulus establishment of protein localization to endoplasmic reticulum ventricular cardiac muscle cell action potential Purkinje myocyte to ventricular cardiac muscle cell signaling type B pancreatic cell apoptotic process scaffold protein binding organic cyclic compound binding positive regulation of the force of heart contraction regulation of AV node cell action potential regulation of SA node cell action potential regulation of atrial cardiac muscle cell action potential regulation of ventricular cardiac muscle cell action potential positive regulation of calcium-transporting ATPase activity uc007pld.1 uc007pld.2 uc007pld.3 
ENSMUST00000021757.5 Aoah ENSMUST00000021757.5 acyloxyacyl hydrolase, transcript variant 1 (from RefSeq NM_012054.4) AOAH_MOUSE Aoah ENSMUST00000021757.1 ENSMUST00000021757.2 ENSMUST00000021757.3 ENSMUST00000021757.4 NM_012054 O35298 uc007ppu.1 uc007ppu.2 uc007ppu.3 uc007ppu.4 This genes encodes an enzyme that catalyzes the hydrolysis of acyloxylacyl-linked fatty acyl chains from bacterial lipopolysaccharides. The encoded protein modulates host inflammatory response to gram-negative bacteria. The proprotein is further cleaved into a large and small chain that interact in a heterodimer. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2013]. Removes the secondary (acyloxyacyl-linked) fatty acyl chains from the lipid A region of bacterial lipopolysaccharides (LPS) (PubMed:12810692, PubMed:15155618, PubMed:17322564, PubMed:19860560). By breaking down LPS, terminates the host response to bacterial infection and prevents prolonged and damaging inflammatory responses (PubMed:17322564, PubMed:19860560, PubMed:28622363). In peritoneal macrophages, seems to be important for recovery from a state of immune tolerance following infection by Gram-negative bacteria (PubMed:18779055). Reaction=a 3-(acyloxy)acyl derivative of bacterial toxin + H2O = 3- hydroxyacyl derivative of bacterial toxin + a fatty acid + H(+); Xref=Rhea:RHEA:12032, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28868, ChEBI:CHEBI:136853, ChEBI:CHEBI:140675; EC=3.1.1.77; Evidence= Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Note=Binds 3 Ca(2+) ions per subunit. The calcium ions probably have a structural role. ; Heterodimer of the large and small subunits; disulfide-linked. Secreted Cytoplasmic vesicle Note=Detected in urine. Detected in peritoneal macrophages (at protein level) (PubMed:17322564, PubMed:28622363). Strongly expressed in kidney cortex, where it may be produced by proximal tubule cells (PubMed:15155618). In liver, expressed at high levels in Kupffer cells (PubMed:17322564). Expressed by dendritic cells (PubMed:12810692). Detected at low levels in alveolar macrophages (PubMed:28622363). Strongly up-regulated in alveolar macrophages in response to bacterial lipopolysaccharides (LPS). Cleaved into a large and a small subunit. The small subunit is N-glycosylated. Animals develop significant and prolonged hepatosplenomegaly in response to bacterial lipopolysaccharide (LPS) challenge (PubMed:17322564). Both liver and spleen show increased accumulation of leukocytes (PubMed:17322564). Significantly reduced deacylation of LPS in liver and spleen, in peritoneal macrophages, and in bone marrow-derived dendritic cells (PubMed:12810692, PubMed:17322564, PubMed:18779055). Increased lung injury, delayed neutrophil clearance, and prolonged recovery time in response to intranasal LPS administration (PubMed:28622363). Alveolar macrophages show persistent activation and cytokine levels in lung remain elevated 4-7 days after LPS administration (PubMed:28622363). Impaired response to a second infection challenge, with reduced production of the pro- inflammatory chemokines CCL5/RANTES, TNF and IL6 by peritoneal macrophages and reduced survival rates, indicating a prolonged state of immune tolerance (PubMed:18779055). This immune tolerant state can perisist for two months or longer (PubMed:18779055). calcium ion binding extracellular region lipid metabolic process fatty acid metabolic process lipopolysaccharide metabolic process lipopolysaccharide catabolic process hydrolase activity hydrolase activity, acting on ester bonds cytoplasmic vesicle metal ion binding acyloxyacyl hydrolase activity negative regulation of inflammatory response uc007ppu.1 uc007ppu.2 uc007ppu.3 uc007ppu.4 
ENSMUST00000021769.16 Slc17a4 ENSMUST00000021769.16 solute carrier family 17 (sodium phosphate), member 4 (from RefSeq NM_177016.3) B9EJP0 ENSMUST00000021769.1 ENSMUST00000021769.10 ENSMUST00000021769.11 ENSMUST00000021769.12 ENSMUST00000021769.13 ENSMUST00000021769.14 ENSMUST00000021769.15 ENSMUST00000021769.2 ENSMUST00000021769.3 ENSMUST00000021769.4 ENSMUST00000021769.5 ENSMUST00000021769.6 ENSMUST00000021769.7 ENSMUST00000021769.8 ENSMUST00000021769.9 NM_177016 Q5NCM1 S17A4_MOUSE uc007pvh.1 uc007pvh.2 uc007pvh.3 Acts as a membrane potential-dependent organic anion transporter, the transport requires a low concentration of chloride ions (PubMed:22460716). Mediates chloride-dependent transport of urate (PubMed:22460716). Mediates sodium-independent high affinity transport of thyroid hormones including L-thyroxine (T4) and 3,3',5-triiodo-L- thyronine (T3) (By similarity). Can actively transport inorganic phosphate into cells via Na(+) cotransport (By similarity). Reaction=3 Na(+)(out) + phosphate(out) = 3 Na(+)(in) + phosphate(in); Xref=Rhea:RHEA:71255, ChEBI:CHEBI:29101, ChEBI:CHEBI:43474; Evidence=; Reaction=n chloride(in) + urate(out) = n chloride(out) + urate(in); Xref=Rhea:RHEA:72319, ChEBI:CHEBI:17775, ChEBI:CHEBI:17996; Evidence=; Reaction=L-thyroxine(out) = L-thyroxine(in); Xref=Rhea:RHEA:71819, ChEBI:CHEBI:58448; Evidence=; Reaction=3,3',5-triiodo-L-thyronine(out) = 3,3',5-triiodo-L- thyronine(in); Xref=Rhea:RHEA:71811, ChEBI:CHEBI:533015; Evidence=; Apical cell membrane ; Multi-pass membrane protein Note=Apical in the intestinal brush border. Expressed in the small intestine (at protein level). Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. Sequence=CAI35970.1; Type=Erroneous gene model prediction; Evidence=; plasma membrane integral component of plasma membrane ion transport sodium ion transport symporter activity membrane integral component of membrane apical plasma membrane transmembrane transport uc007pvh.1 uc007pvh.2 uc007pvh.3 
ENSMUST00000021770.8 Scgn ENSMUST00000021770.8 secretagogin, EF-hand calcium binding protein (from RefSeq NM_145399.1) ENSMUST00000021770.1 ENSMUST00000021770.2 ENSMUST00000021770.3 ENSMUST00000021770.4 ENSMUST00000021770.5 ENSMUST00000021770.6 ENSMUST00000021770.7 NM_145399 Q91WD9 SEGN_MOUSE uc007pvk.1 uc007pvk.2 uc007pvk.3 Cytoplasm. Secreted Cytoplasmic vesicle, secretory vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side Note=Predominantly cytoplasmic. A small proportion is associated with secretory granules and membrane fractions (By similarity). calcium ion binding extracellular region nucleus cytoplasm cytosol membrane dendrite transport vesicle membrane cytoplasmic vesicle neuron projection synapse metal ion binding presynapse regulation of presynaptic cytosolic calcium ion concentration regulation of long-term synaptic potentiation uc007pvk.1 uc007pvk.2 uc007pvk.3 
ENSMUST00000021772.4 Mrs2 ENSMUST00000021772.4 MRS2 magnesium transporter (from RefSeq NM_001013389.2) ENSMUST00000021772.1 ENSMUST00000021772.2 ENSMUST00000021772.3 Gm902 MRS2_MOUSE Mrs2l NM_001013389 Q5NCE8 uc007pwt.1 uc007pwt.2 uc007pwt.3 uc007pwt.4 uc007pwt.5 Magnesium transporter that mediates the influx of magnesium into the mitochondrial matrix. Required for normal expression of the mitochondrial respiratory complex I subunits. Mitochondrion inner membrane ; Multi-pass membrane protein Ubiquitously expressed. Belongs to the CorA metal ion transporter (MIT) (TC 1.A.35) family. Sequence=CAI35077.1; Type=Erroneous initiation; Evidence=; mitochondrion mitochondrial inner membrane lactate metabolic process ion transport magnesium ion transmembrane transporter activity magnesium ion transport membrane integral component of membrane mitochondrial magnesium ion transport uc007pwt.1 uc007pwt.2 uc007pwt.3 uc007pwt.4 uc007pwt.5 
ENSMUST00000021773.13 Gpld1 ENSMUST00000021773.13 glycosylphosphatidylinositol specific phospholipase D1 (from RefSeq NM_008156.2) ENSMUST00000021773.1 ENSMUST00000021773.10 ENSMUST00000021773.11 ENSMUST00000021773.12 ENSMUST00000021773.2 ENSMUST00000021773.3 ENSMUST00000021773.4 ENSMUST00000021773.5 ENSMUST00000021773.6 ENSMUST00000021773.7 ENSMUST00000021773.8 ENSMUST00000021773.9 Gpld1 NM_008156 Q8VCU2 Q8VCU2_MOUSE uc007pws.1 uc007pws.2 uc007pws.3 Reaction=an alpha-D-GlcN-(1->6)-(1,2-diacyl-sn-glycero-3-phospho)-1D- myo-inositol + H2O = 6-(alpha-D-glucosaminyl)-1D-myo-inositol + a 1,2-diacyl-sn-glycero-3-phosphate + H(+); Xref=Rhea:RHEA:10832, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57997, ChEBI:CHEBI:58608, ChEBI:CHEBI:58700; EC=3.1.4.50; Evidence=; Secreted Belongs to the GPLD1 family. cell migration involved in sprouting angiogenesis complement receptor mediated signaling pathway glycosylphosphatidylinositol phospholipase D activity phospholipase D activity extracellular region extracellular space cytoplasm GPI anchor release negative regulation of cell proliferation insulin receptor signaling pathway response to glucose positive regulation of endothelial cell migration cellular response to insulin stimulus cellular response to drug positive regulation of apoptotic process intracellular membrane-bounded organelle positive regulation of cytolysis positive regulation of membrane protein ectodomain proteolysis cellular response to calcium ion cellular response to cholesterol cellular response to triglyceride cellular response to pH regulation of cellular response to insulin stimulus uc007pws.1 uc007pws.2 uc007pws.3 
ENSMUST00000021776.4 Prl7d1 ENSMUST00000021776.4 prolactin family 7, subfamily d, member 1, transcript variant 2 (from RefSeq NM_001360090.1) ENSMUST00000021776.1 ENSMUST00000021776.2 ENSMUST00000021776.3 NM_001360090 Plfr Prl7d1 Q9DAY8 Q9DAY8_MOUSE uc007pyc.1 uc007pyc.2 uc007pyc.3 uc007pyc.4 Secreted Belongs to the somatotropin/prolactin family. hormone activity extracellular region signal transduction uc007pyc.1 uc007pyc.2 uc007pyc.3 uc007pyc.4 
ENSMUST00000021778.14 Prl2c5 ENSMUST00000021778.14 prolactin family 2, subfamily c, member 5, transcript variant 2 (from RefSeq NM_181852.2) ENSMUST00000021778.1 ENSMUST00000021778.10 ENSMUST00000021778.11 ENSMUST00000021778.12 ENSMUST00000021778.13 ENSMUST00000021778.2 ENSMUST00000021778.3 ENSMUST00000021778.4 ENSMUST00000021778.5 ENSMUST00000021778.6 ENSMUST00000021778.7 ENSMUST00000021778.8 ENSMUST00000021778.9 Mrp4 Mrpplf4 NM_181852 PR2C5_MOUSE Plf4 Prl2c5 Q3UKX5 Q9JLV9 uc007ply.1 uc007ply.2 uc007ply.3 uc007ply.4 Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9JLV9-1; Sequence=Displayed; Name=2; IsoId=Q9JLV9-2; Sequence=VSP_058802; Expressed in placenta (at protein level) (PubMed:10803597, PubMed:10537154, PubMed:16876275). Expressed in the tail hair follicle, with highest expression detected in the keratinocytes of the outer root sheath (PubMed:10803597). Expressed in ear skin with lesser amounts in small intestine (PubMed:10803597). Not detected in brain at 18 dpc, postnatal day 25 or postnatal day 55 (PubMed:16876275). In placenta, detected at 8 dpc, peaks at 12 dpc and declines thereafter. N-glycosylated and sialylated. Belongs to the somatotropin/prolactin family. prolactin receptor binding hormone activity extracellular region extracellular space signal transduction female pregnancy positive regulation of cell proliferation mammary gland development response to nutrient levels positive regulation of JAK-STAT cascade positive regulation of lactation uc007ply.1 uc007ply.2 uc007ply.3 uc007ply.4 
ENSMUST00000021779.8 Prl4a1 ENSMUST00000021779.8 prolactin family 4, subfamily a, member 1 (from RefSeq NM_011165.4) ENSMUST00000021779.1 ENSMUST00000021779.2 ENSMUST00000021779.3 ENSMUST00000021779.4 ENSMUST00000021779.5 ENSMUST00000021779.6 ENSMUST00000021779.7 NM_011165 O35256 PR4A1_MOUSE Prlpa uc007pyg.1 uc007pyg.2 uc007pyg.3 Secreted Expressed specifically in placenta. Expressed in both trophoblast giant cells and spongiotrophoblast cells. Low level on day 8, abundant on days 10 to 14, and decreases by day 16. Belongs to the somatotropin/prolactin family. response to hypoxia prolactin receptor binding hormone activity extracellular region extracellular space signal transduction female pregnancy positive regulation of cell proliferation mammary gland development response to nutrient levels positive regulation of JAK-STAT cascade positive regulation of lactation uc007pyg.1 uc007pyg.2 uc007pyg.3 
ENSMUST00000021785.8 Exoc2 ENSMUST00000021785.8 exocyst complex component 2, transcript variant 1 (from RefSeq NM_025588.2) ENSMUST00000021785.1 ENSMUST00000021785.2 ENSMUST00000021785.3 ENSMUST00000021785.4 ENSMUST00000021785.5 ENSMUST00000021785.6 ENSMUST00000021785.7 EXOC2_MOUSE NM_025588 Q9D4H1 Sec5 Sec5l1 uc007pzd.1 uc007pzd.2 uc007pzd.3 Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. The exocyst complex is composed of EXOC1, EXOC2, EXOC3, EXOC4, EXOC5, EXOC6, EXOC7 and EXOC8 (PubMed:26582389). Interacts with EXOC3L1 (PubMed:18480549). Interacts with GNEFR/DELGEF; this interaction occurs only in the presence of magnesium or manganese and is stimulated by dCTP or GTP (By similarity). Interacts with RALA and RALB (By similarity) (PubMed:18480549). Interacts with ARL13B; regulates ARL13B localization to the cilium membrane. Midbody, Midbody ring Note=Recruitment to the midbody does not require RALA, nor RALB. Colocalizes with CNTRL/centriolin at the midbody ring. Interacts with RALA through the TIG domain. Belongs to the SEC5 family. exocyst plasma membrane exocytosis Golgi to plasma membrane transport protein transport vesicle-mediated transport Ral GTPase binding protein kinase binding positive regulation of exocytosis protein N-terminus binding Flemming body regulation of entry of bacterium into host cell uc007pzd.1 uc007pzd.2 uc007pzd.3 
ENSMUST00000021787.7 Tfap2a ENSMUST00000021787.7 transcription factor AP-2, alpha, transcript variant 3 (from RefSeq NM_001122948.2) ENSMUST00000021787.1 ENSMUST00000021787.2 ENSMUST00000021787.3 ENSMUST00000021787.4 ENSMUST00000021787.5 ENSMUST00000021787.6 NM_001122948 Q8BPN4 Q8BPN4_MOUSE Tcfap2a Tfap2a uc007qee.1 uc007qee.2 uc007qee.3 uc007qee.4 uc007qee.5 This gene is a member of the activator protein 2 (AP-2) transcription factor family. The protein encoded by this gene can act as both an activator and repressor of gene transcription, and plays an important role in early embryogenesis, specifically in cranial development. This protein forms both homodimers and heterodimers, and binds to a GC-rich consensus sequence found in some promoters and enhancers. Disruption of this gene causes perinatal death, with neural tube, craniofacial, and limb mesenchyme defects. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms. [provided by RefSeq, Sep 2014]. Nucleus Belongs to the AP-2 family. transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated uc007qee.1 uc007qee.2 uc007qee.3 uc007qee.4 uc007qee.5 
ENSMUST00000021790.7 Tmem14c ENSMUST00000021790.7 transmembrane protein 14C, transcript variant 1 (from RefSeq NM_025387.3) ENSMUST00000021790.1 ENSMUST00000021790.2 ENSMUST00000021790.3 ENSMUST00000021790.4 ENSMUST00000021790.5 ENSMUST00000021790.6 NM_025387 Q543H6 Q9CQN6 Q9D849 TM14C_MOUSE uc007qet.1 uc007qet.2 uc007qet.3 uc007qet.4 Required for normal heme biosynthesis. Mitochondrion membrane ; Multi-pass membrane protein Belongs to the TMEM14 family. molecular_function mitochondrion mitochondrial inner membrane heme biosynthetic process mitochondrial transport membrane integral component of membrane erythrocyte differentiation mitochondrial membrane regulation of heme biosynthetic process uc007qet.1 uc007qet.2 uc007qet.3 uc007qet.4 
ENSMUST00000021791.8 Gcm2 ENSMUST00000021791.8 glial cells missing homolog 2 (from RefSeq NM_008104.2) A0A0R4J021 A0A0R4J021_MOUSE ENSMUST00000021791.1 ENSMUST00000021791.2 ENSMUST00000021791.3 ENSMUST00000021791.4 ENSMUST00000021791.5 ENSMUST00000021791.6 ENSMUST00000021791.7 Gcm2 NM_008104 uc007qfa.1 uc007qfa.2 uc007qfa.3 RNA polymerase II transcription factor activity, sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter cellular calcium ion homeostasis cellular phosphate ion homeostasis sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter parathyroid gland development uc007qfa.1 uc007qfa.2 uc007qfa.3 
ENSMUST00000021793.15 Elovl2 ENSMUST00000021793.15 ELOVL fatty acid elongase 2, transcript variant 1 (from RefSeq NM_019423.2) ELOV2_MOUSE ENSMUST00000021793.1 ENSMUST00000021793.10 ENSMUST00000021793.11 ENSMUST00000021793.12 ENSMUST00000021793.13 ENSMUST00000021793.14 ENSMUST00000021793.2 ENSMUST00000021793.3 ENSMUST00000021793.4 ENSMUST00000021793.5 ENSMUST00000021793.6 ENSMUST00000021793.7 ENSMUST00000021793.8 ENSMUST00000021793.9 Elovl2 NM_019423 Q9D5Z2 Q9JLJ4 Ssc2 uc007qfb.1 uc007qfb.2 uc007qfb.3 uc007qfb.4 Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme that catalyzes the synthesis of polyunsaturated very long chain fatty acid (C20- and C22-PUFA), acting specifically toward polyunsaturated acyl-CoA with the higher activity toward C20:4(n-6) acyl-CoA. May participate in the production of polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Essential for the formation of C24:5(n-6) up to C30:5(n-6) PUFAs in testis, these fatty acids being indispensable for normal spermatogenesis and fertility. Reaction=a very-long-chain acyl-CoA + H(+) + malonyl-CoA = a very-long- chain 3-oxoacyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:32727, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:90725, ChEBI:CHEBI:90736; EC=2.3.1.199; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:32728; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + H(+) + malonyl-CoA = (7Z,10Z,13Z,16Z)-3-oxodocosatetraenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36475, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:57384, ChEBI:CHEBI:73852; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36476; Evidence=; Reaction=(7Z,10Z,13Z,16Z)-docosatetraenoyl-CoA + H(+) + malonyl-CoA = (9Z,12Z,15Z,18Z)-3-oxotetracosatetraenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36479, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:73856, ChEBI:CHEBI:73857; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36480; Evidence=; Reaction=(5Z,8Z,11Z,14Z,17Z)-eicosapentaenoyl-CoA + H(+) + malonyl-CoA = (7Z,10Z,13Z,16Z,19Z)-3-oxodocosapentaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36483, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:73862, ChEBI:CHEBI:73863; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36484; Evidence=; Reaction=(7Z,10Z,13Z,16Z,19Z)-docosapentaenoyl-CoA + H(+) + malonyl-CoA = (9Z,12Z,15Z,18Z,21Z)-3-oxotetracosapentaenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36491, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:73870, ChEBI:CHEBI:73871; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36492; Evidence=; Lipid metabolism; polyunsaturated fatty acid biosynthesis. Endoplasmic reticulum membrane ; Multi-pass membrane protein Highly expressed in testis, lower level in liver. Weakly expressed in white adipose tissue, brain and kidney. The C-terminal di-lysine motif may confer endoplasmic reticulum localization. Belongs to the ELO family. ELOVL2 subfamily. Sequence=BAB29559.1; Type=Erroneous initiation; Evidence=; very long-chain fatty acid metabolic process endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process unsaturated fatty acid biosynthetic process fatty acid elongase activity membrane integral component of membrane transferase activity transferase activity, transferring acyl groups other than amino-acyl groups fatty acid elongation, saturated fatty acid sphingolipid biosynthetic process integral component of endoplasmic reticulum membrane fatty acid elongation, monounsaturated fatty acid fatty acid elongation, polyunsaturated fatty acid very long-chain fatty acid biosynthetic process 3-oxo-arachidoyl-CoA synthase activity 3-oxo-cerotoyl-CoA synthase activity 3-oxo-lignoceronyl-CoA synthase activity uc007qfb.1 uc007qfb.2 uc007qfb.3 uc007qfb.4 
ENSMUST00000021794.14 Nedd9 ENSMUST00000021794.14 neural precursor cell expressed, developmentally down-regulated gene 9, transcript variant 1 (from RefSeq NM_001111324.2) CASL_MOUSE Casl ENSMUST00000021794.1 ENSMUST00000021794.10 ENSMUST00000021794.11 ENSMUST00000021794.12 ENSMUST00000021794.13 ENSMUST00000021794.2 ENSMUST00000021794.3 ENSMUST00000021794.4 ENSMUST00000021794.5 ENSMUST00000021794.6 ENSMUST00000021794.7 ENSMUST00000021794.8 ENSMUST00000021794.9 NM_001111324 Nedd9 O35177 Q8BJL8 Q8BK90 Q8BL52 Q8BM94 Q8BMI9 Q99KE7 uc007qfe.1 uc007qfe.2 uc007qfe.3 uc007qfe.4 uc007qfe.5 Scaffolding protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion (By similarity). As a focal adhesion protein, plays a role in embryonic fibroblast migration (PubMed:25059660). May play an important role in integrin beta-1 or B cell antigen receptor (BCR) mediated signaling in B- and T-cells. Integrin beta-1 stimulation leads to recruitment of various proteins including CRKl and SHPTP2 to the tyrosine phosphorylated form (By similarity). Promotes adhesion and migration of lymphocytes; as a result required for the correct migration of lymphocytes to the spleen and other secondary lymphoid organs (PubMed:16148091, PubMed:17174122). Plays a role in the organization of T-cell F-actin cortical cytoskeleton and the centralization of T-cell receptor microclusters at the immunological synapse (PubMed:27359298). Negatively regulates cilia outgrowth in polarized cysts (By similarity). Modulates cilia disassembly via activation of AURKA- mediated phosphorylation of HDAC6 and subsequent deacetylation of alpha-tubulin (By similarity). Positively regulates RANKL-induced osteoclastogenesis (PubMed:27336669). Required for the maintenance of hippocampal dendritic spines in the dentate gyrus and CA1 regions, thereby involved in spatial learning and memory (PubMed:26683084). Homodimer (By similarity). Forms heterodimers with BCAR1/p130cas (By similarity). Forms complexes with PTK2B/RAFTK, adapter protein CRKL and LYN kinase (By similarity). Part of a complex composed of NEDD9, AURKA and CTTN; within the complex NEDD9 acts as a scaffold protein and is required for complex formation (By similarity). Part of a ternary complex composed of SMAD3, ITCH/AIP4 and NEDD9/HEF1; within the complex NEDD9/HEF1 interacts (via N-terminus) with ITCH/AIP4 (via WW domains); the complex mediates ubiquitination and proteasomal degradation of NEDD9/HEF1 (By similarity). Interacts with SMAD3; the interaction promotes NEDD9 ubiquitination and proteasomal degradation (By similarity). Interacts with ID2 (By similarity). Interacts with CTTN (via N-terminus) (PubMed:24574519). Interacts with MICAL (By similarity). Interacts with TXNL4/DIM1 (By similarity). Interacts with BCAR3 (via Ras-GEF domain) (PubMed:12517963, PubMed:19103205). Interacts with SH2D3C isoform 1 and isoform 2 (PubMed:10692442, PubMed:17174122). Interacts with ECT2 (By similarity). Interacts with PTPN11/SHP-2 (via SH2 domains); the interaction is enhanced when NEDD9/CAS-L is tyrosine phosphorylated (By similarity). Interacts (via C-terminus) with PLK1 (via polo box domains) (PubMed:29191835). Interacts with NKX2-5 (By similarity). Interacts with SMAD3; the interaction is inhibited by oxidation of NEDD9 (By similarity). Interacts with NEDD9/HEF1; interaction is induced by CXCL12 promotion of ABL-mediated phosphorylation of NEDD9/HEF1 (By similarity). Interacts (via SH3 domain) with PTK2/FAK (PubMed:25059660). Interacts with FYN; in the presence of PTK2 (By similarity). Interacts with INPPL1/SHIP2 (By similarity). O35177; Q9QZS8: Sh2d3c; NbExp=2; IntAct=EBI-2642891, EBI-7964037; Cytoplasm, cell cortex Nucleus Golgi apparatus Cell projection, lamellipodium Cytoplasm Cell junction, focal adhesion Cytoplasm, cytoskeleton Cytoplasm, cytoskeleton, spindle pole Cell projection, cilium Cytoplasm, cytoskeleton, cilium basal body Basolateral cell membrane Expressed in splenic lymphocytes (at protein level) (PubMed:19365570). Expressed in T-cells (at protein level) (PubMed:27359298). Expressed in the thymus (PubMed:16148091). Expressed throughout the brain however particularly abundant in the cortex and hippocampus (PubMed:26683084). Induced by TGF-beta treatment in bone marrow macrophages. Contains a central domain containing multiple potential SH2- binding sites and a C-terminal domain containing a divergent helix- loop-helix (HLH) motif (By similarity). The SH2-binding sites putatively bind CRKL SH2 domains (By similarity). The HLH motif confers specific interaction with the HLH protein ID2 (By similarity). It is absolutely required for the induction of pseudohyphal growth in yeast and mediates homodimerization and heterodimerization with BCAR1/p130cas (By similarity). Polyubiquitinated by ITCH/AIP4, leading to proteasomal degradation. PTK2/FAK1 phosphorylates the protein at the YDYVHL motif (conserved among all cas proteins) following integrin stimulation (By similarity). The SRC family kinases (FYN, SRC, LCK and CRK) are recruited to the phosphorylated sites and can phosphorylate other tyrosine residues (By similarity). Ligation of either integrin beta-1 or B-cell antigen receptor on tonsillar B-cells and B-cell lines promotes tyrosine phosphorylation and both integrin and BCR-mediated tyrosine phosphorylation requires an intact actin network (By similarity). Phosphorylation is required to recruit NEDD9 to T-cell receptor microclusters at the periphery of newly formed immunological synapses (PubMed:27359298). In fibroblasts transformation with oncogene v-ABL results in an increase in tyrosine phosphorylation. Transiently phosphorylated following CD3 cross-linking and this phosphorylated form binds to CRKL and C3G (By similarity). A mutant lacking the SH3 domain is phosphorylated upon CD3 cross-linking but not upon integrin beta-1 cross-linking. Tyrosine phosphorylation occurs upon stimulation of the G-protein coupled C1a calcitonin receptor. Calcitonin-stimulated tyrosine phosphorylation is mediated by calcium- and protein kinase C- dependent mechanisms and requires the integrity of the actin cytoskeleton. Phosphorylation at Ser-368 induces proteasomal degradation (By similarity). Phosphorylated by LYN (By similarity). Phosphorylation at Ser-779 by CSNK1D or CSNK1E, or phosphorylation of Thr-803 by CSNK1E enhances the interaction of NEDD9 with PLK1 (By similarity). Knockout mice are morphologically normal and fertile, however take an increased amount of time to learn new spatial memories (PubMed:26683084). Reduced dendritic spine density in the dentate gyrus and both the basal and apical CA1 regions of the hippocampus, with additional decreased in apical dendrite length (PubMed:26683084). The difference in dendritic spine density becomes more pronounced with age (PubMed:26683084). Reduced numbers of osteoclasts in bone marrow macrophages, however overall displayed a normal skeletal phenotype (PubMed:27336669). Abolishes ICAM1 distribution at the pericentral ring of the immunological synapse of T- cells (PubMed:27359298). Impaired movement of T-cell receptor (TCR) microclusters from the synapse periphery to the central region and a decrease in TCR microcluster maturation (PubMed:27359298). Decreased Ca(2+) release from intracellular stores and decreased PLCG1 activation during synapse formation. T-cells failed to form stable immunological synapses, tended to polarize and exhibited uncoordinated, slow migration resulting in significantly smaller synapse area (PubMed:27359298). T-cells show a disorganized cortical actin network, smaller lamellipodial area and undefined lamella boundaries (PubMed:27359298). Decreased splenic follicular and marginal zone B- cells (MZB), however MZB cells were more significantly affected, leading to a decrease in phosphorylcholine-specific IgM and IgG2a (PubMed:16148091). Reduced chemotaxis of T-cells and follicular B-cells in response to CXCL12 and CXCL13 and reduced cell adhesion in response to the integrin ligands VCAM1 and ICAM1 (PubMed:16148091). Decreased number of homing B- and T-cells in the spleen, lymph nodes and peripheral blood, with elevated B-cells in the peripheral blood (PubMed:16148091). Belongs to the CAS family. spindle pole protein binding nucleus nucleoplasm cytoplasm cytosol cytoskeleton plasma membrane cell cortex cell cycle cell adhesion cell migration positive regulation of cell migration regulation of growth cell division positive regulation of protein tyrosine kinase activity actin filament reorganization activation of GTPase activity positive regulation of substrate adhesion-dependent cell spreading protein tyrosine kinase binding uc007qfe.1 uc007qfe.2 uc007qfe.3 uc007qfe.4 uc007qfe.5 
ENSMUST00000021796.9 Edn1 ENSMUST00000021796.9 endothelin 1 (from RefSeq NM_010104.4) ENSMUST00000021796.1 ENSMUST00000021796.2 ENSMUST00000021796.3 ENSMUST00000021796.4 ENSMUST00000021796.5 ENSMUST00000021796.6 ENSMUST00000021796.7 ENSMUST00000021796.8 Edn1 NM_010104 Q544E0 Q544E0_MOUSE preproET uc007qfl.1 uc007qfl.2 uc007qfl.3 uc007qfl.4 This gene encodes a member of the endothelin family of peptides. The encoded preproprotein undergoes proteolytic processing to generate a peptide before secretion by the vascular endothelial cells. The mature peptide has various biological activities such as vasoconstriction, cell proliferation, stimulation of hormone release and modulation of central nervous activity. Mice lacking the encoded protein exhibit neonatal lethality accompanied with numerous craniofacial and cardiovascular defects due to disruption in cranial and cardiac neural crest cell patterning during early embryogenesis. [provided by RefSeq, Feb 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC029547.1, AK040778.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Secreted Belongs to the endothelin/sarafotoxin family. negative regulation of transcription from RNA polymerase II promoter prostaglandin biosynthetic process response to hypoxia histamine secretion regulation of systemic arterial blood pressure by endothelin cytokine activity hormone activity extracellular region extracellular space cytoplasm cell surface receptor signaling pathway G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration cell-cell signaling regulation of blood pressure positive regulation of cell proliferation response to ozone multicellular organism aging positive regulation of heart rate positive regulation of cardiac muscle hypertrophy negative regulation of gene expression positive regulation of receptor biosynthetic process phosphatidylinositol 3-kinase signaling response to activity artery smooth muscle contraction vein smooth muscle contraction regulation of vasoconstriction sensory perception of pain calcium-mediated signaling peptide hormone secretion nitric oxide transport positive regulation of cell migration endothelin A receptor binding endothelin B receptor binding negative regulation of cellular protein metabolic process positive regulation of prostaglandin secretion response to lipopolysaccharide Weibel-Palade body response to testosterone negative regulation of smooth muscle cell apoptotic process response to prostaglandin F response to nicotine intracellular signal transduction cellular response to drug response to muscle stretch epithelial fluid transport vasoconstriction protein kinase C deactivation positive regulation of odontogenesis response to drug superoxide anion generation response to amino acid positive regulation of MAP kinase activity positive regulation of JUN kinase activity response to leptin basal part of cell positive regulation of cell size positive regulation of mitotic nuclear division positive regulation of transcription from RNA polymerase II promoter positive regulation of smooth muscle contraction positive regulation of hormone secretion negative regulation of hormone secretion inositol phosphate-mediated signaling rough endoplasmic reticulum lumen positive regulation of smooth muscle cell proliferation positive regulation of sequence-specific DNA binding transcription factor activity negative regulation of nitric-oxide synthase biosynthetic process membrane depolarization regulation of sensory perception of pain maternal process involved in parturition positive regulation of sarcomere organization positive regulation of prostaglandin-endoperoxide synthase activity positive regulation of cell growth involved in cardiac muscle cell development cellular response to calcium ion cellular response to interferon-gamma cellular response to interleukin-1 cellular response to tumor necrosis factor cellular response to peptide hormone stimulus cellular response to glucocorticoid stimulus cellular response to mineralocorticoid stimulus cellular response to fatty acid cellular response to hypoxia response to dexamethasone response to transforming growth factor beta cellular response to transforming growth factor beta stimulus positive regulation of neutrophil chemotaxis positive regulation of NIK/NF-kappaB signaling response to salt positive regulation of vascular smooth muscle cell proliferation uc007qfl.1 uc007qfl.2 uc007qfl.3 uc007qfl.4 
ENSMUST00000021797.9 Tbc1d7 ENSMUST00000021797.9 TBC1 domain family, member 7, transcript variant 2 (from RefSeq NM_025935.3) B7ZNC1 ENSMUST00000021797.1 ENSMUST00000021797.2 ENSMUST00000021797.3 ENSMUST00000021797.4 ENSMUST00000021797.5 ENSMUST00000021797.6 ENSMUST00000021797.7 ENSMUST00000021797.8 NM_025935 Q05AE0 Q3U0V0 Q9D0K0 TBCD7_MOUSE Tbc1d7 uc007qfu.1 uc007qfu.2 uc007qfu.3 uc007qfu.4 uc007qfu.5 Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule biosynthesis to promote cellular biomass generation and growth (PubMed:22795129). The TSC-TBC complex acts as a GTPase-activating protein (GAP) for the small GTPase RHEB, a direct activator of the protein kinase activity of mTORC1 (By similarity). In absence of nutrients, the TSC-TBC complex inhibits mTORC1, thereby preventing phosphorylation of ribosomal protein S6 kinase (RPS6KB1 and RPS6KB2) and EIF4EBP1 (4E-BP1) by the mTORC1 signaling (By similarity). The TSC-TBC complex is inactivated in response to nutrients, relieving inhibition of mTORC1 (By similarity). Component of the TSC-TBC complex (also named Rhebulator complex), composed of 2 molecules of TSC1, 2 molecules of TSC2 and 1 molecule of TBC1D7 (PubMed:22795129). Interacts with TSC1 (via C- terminal half of the coiled-coil domain) (By similarity). Lysosome membrane Cytoplasmic vesicle Cytoplasm, cytosol Note=Localizes in the cytoplasmic vesicles of the endomembrane in association with the TSC-TBC complex. Recruited to lysosomal membranes in a RHEB-dependent process in absence of nutrients. In response to nutrients, the complex dissociates from lysosomal membranes and relocalizes to the cytosol. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9D0K0-1; Sequence=Displayed; Name=2; IsoId=Q9D0K0-2; Sequence=VSP_044187; GTPase activator activity Rab GTPase binding positive regulation of protein ubiquitination cytoplasmic vesicle negative regulation of TOR signaling ciliary basal body positive regulation of GTPase activity response to growth factor activation of GTPase activity negative regulation of cilium assembly uc007qfu.1 uc007qfu.2 uc007qfu.3 uc007qfu.4 uc007qfu.5 
ENSMUST00000021800.6 Mcur1 ENSMUST00000021800.6 mitochondrial calcium uniporter regulator 1 (from RefSeq NM_001081059.3) Ccdc90a ENSMUST00000021800.1 ENSMUST00000021800.2 ENSMUST00000021800.3 ENSMUST00000021800.4 ENSMUST00000021800.5 MCUR1_MOUSE Mcur1 NM_001081059 Q14DH8 Q3V3D3 Q9CXD6 uc007qgf.1 uc007qgf.2 uc007qgf.3 uc007qgf.4 Key regulator of mitochondrial calcium uniporter (MCU) required for calcium entry into mitochondrion. Plays a direct role in uniporter-mediated calcium uptake via a direct interaction with MCU. Probably involved in the assembly of the membrane components of the uniporter complex (uniplex). Interacts (via coiled coil regions) with MCU; the interaction is direct. Interacts with SMDT1/EMRE; the interaction is direct. Interacts with PPIF. Mitochondrion inner membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9CXD6-1; Sequence=Displayed; Name=2; IsoId=Q9CXD6-2; Sequence=VSP_027001, VSP_027002; Name=3; IsoId=Q9CXD6-3; Sequence=VSP_027000; Conditional knockout mice lacking Mcur1 in cardiomyocytes and endothelial cells are viable and are born at the expected Mendelian. They however show impaired mitochondrial calcium uptake and mitochondrial calcium uniporter (MCU) current. Belongs to the CCDC90 family. molecular_function mitochondrion mitochondrial inner membrane ion transport calcium ion transport mitochondrial calcium ion transport membrane integral component of membrane integral component of mitochondrial inner membrane mitochondrial calcium uptake positive regulation of mitochondrial calcium ion concentration calcium ion import uc007qgf.1 uc007qgf.2 uc007qgf.3 uc007qgf.4 
ENSMUST00000021802.16 Cap2 ENSMUST00000021802.16 cyclase associated actin cytoskeleton regulatory protein 2 (from RefSeq NM_026056.4) CAP2_MOUSE ENSMUST00000021802.1 ENSMUST00000021802.10 ENSMUST00000021802.11 ENSMUST00000021802.12 ENSMUST00000021802.13 ENSMUST00000021802.14 ENSMUST00000021802.15 ENSMUST00000021802.2 ENSMUST00000021802.3 ENSMUST00000021802.4 ENSMUST00000021802.5 ENSMUST00000021802.6 ENSMUST00000021802.7 ENSMUST00000021802.8 ENSMUST00000021802.9 NM_026056 Q80YU7 Q9CYT6 Q9D6L0 uc007qhf.1 uc007qhf.2 uc007qhf.3 uc007qhf.4 May have a regulatory bifunctional role. Cell membrane ; Peripheral membrane protein Belongs to the CAP family. cell morphogenesis actin binding plasma membrane cytoskeleton organization establishment or maintenance of cell polarity actin polymerization or depolymerization adenylate cyclase binding postsynaptic density membrane cortical actin cytoskeleton identical protein binding uc007qhf.1 uc007qhf.2 uc007qhf.3 uc007qhf.4 
ENSMUST00000021803.10 Nup153 ENSMUST00000021803.10 nucleoporin 153 (from RefSeq NM_175749.2) E9Q3G8 E9Q3G8_MOUSE ENSMUST00000021803.1 ENSMUST00000021803.2 ENSMUST00000021803.3 ENSMUST00000021803.4 ENSMUST00000021803.5 ENSMUST00000021803.6 ENSMUST00000021803.7 ENSMUST00000021803.8 ENSMUST00000021803.9 NM_175749 Nup153 uc007qhj.1 uc007qhj.2 uc007qhj.3 uc007qhj.4 mitotic cell cycle chromatin binding double-stranded DNA binding annulate lamellae nuclear pore nucleolus cytosol protein import into nucleus nuclear localization sequence binding zinc ion binding Ran GTPase binding structural constituent of nuclear pore nuclear membrane macromolecular complex nuclear periphery nuclear inclusion body identical protein binding protein anchor nuclear pore central transport channel nuclear pore nuclear basket negative regulation of RNA export from nucleus metal ion binding nuclear pore complex assembly nucleoplasmic side of nuclear pore uc007qhj.1 uc007qhj.2 uc007qhj.3 uc007qhj.4 
ENSMUST00000021806.11 Tpmt ENSMUST00000021806.11 thiopurine methyltransferase (from RefSeq NM_016785.2) A0A0R4J018 A0A0R4J018_MOUSE ENSMUST00000021806.1 ENSMUST00000021806.10 ENSMUST00000021806.2 ENSMUST00000021806.3 ENSMUST00000021806.4 ENSMUST00000021806.5 ENSMUST00000021806.6 ENSMUST00000021806.7 ENSMUST00000021806.8 ENSMUST00000021806.9 NM_016785 Tpmt uc007qhq.1 uc007qhq.2 uc007qhq.3 uc007qhq.4 Reaction=S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L- homocysteine + a thiopurine S-methylether.; EC=2.1.1.67; Evidence=; Monomer. Cytoplasm Belongs to the class I-like SAM-binding methyltransferase superfamily. TPMT family. thiopurine S-methyltransferase activity S-adenosylmethionine-dependent methyltransferase activity drug metabolic process methylation S-adenosyl-L-methionine binding uc007qhq.1 uc007qhq.2 uc007qhq.3 uc007qhq.4 
ENSMUST00000021807.13 Dek ENSMUST00000021807.13 DEK proto-oncogene (from RefSeq NM_025900.2) DEK_MOUSE ENSMUST00000021807.1 ENSMUST00000021807.10 ENSMUST00000021807.11 ENSMUST00000021807.12 ENSMUST00000021807.2 ENSMUST00000021807.3 ENSMUST00000021807.4 ENSMUST00000021807.5 ENSMUST00000021807.6 ENSMUST00000021807.7 ENSMUST00000021807.8 ENSMUST00000021807.9 NM_025900 Q7TNV0 Q80VC5 Q8BZV6 uc007qhw.1 uc007qhw.2 uc007qhw.3 uc007qhw.4 Involved in chromatin organization. Found in a mRNA splicing-dependent exon junction complex (EJC) with DEK, RBM8A, RNPS1, SRRM1 and ALYREF/THOC4. Interacts with histones H2A, H2B, H3, H4, acetylated histone H4, non-phosphorylated DAXX and HDAC2. Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Binds DNA (By similarity). Nucleus Note=Enriched in regions where chromatin is decondensed or sparse in the interphase nuclei. Phosphorylated by CK2. Phosphorylation fluctuates during the cell cycle with a moderate peak during G(1) phase, and weakens the binding of DEK to DNA (By similarity). DNA binding nucleus chromatin organization histone binding contractile fiber regulation of double-strand break repair regulation of double-strand break repair via nonhomologous end joining uc007qhw.1 uc007qhw.2 uc007qhw.3 uc007qhw.4 
ENSMUST00000021810.3 Id4 ENSMUST00000021810.3 inhibitor of DNA binding 4 (from RefSeq NM_031166.3) ENSMUST00000021810.1 ENSMUST00000021810.2 Id4 NM_031166 Q544D2 Q544D2_MOUSE uc007qid.1 uc007qid.2 uc007qid.3 Heterodimer with other HLH proteins. Nucleus nucleus cytoplasm negative regulation of transcription, DNA-templated protein dimerization activity uc007qid.1 uc007qid.2 uc007qid.3 
ENSMUST00000021813.5 Barx1 ENSMUST00000021813.5 BarH-like homeobox 1 (from RefSeq NM_007526.4) BARX1_MOUSE ENSMUST00000021813.1 ENSMUST00000021813.2 ENSMUST00000021813.3 ENSMUST00000021813.4 NM_007526 O09066 P70159 Q0VF04 Q9ER42 Q9ERV2 uc007qil.1 uc007qil.2 uc007qil.3 Transcription factor, which is involved in craniofacial development, in odontogenesis and in stomach organogenesis. May have a role in the differentiation of molars from incisors. Plays a role in suppressing endodermal Wnt activity. Binds to a regulatory module of the NCAM promoter. Nucleus Expressed predominantly in the facial primordia, developing stomach, and proximal limbs. Expressed in areas of the first and second branchial arches, before any apparent cellular or morphologic differentiation. Later in development, all expressing tissue in this region, including the mesenchyme underlying the olfactory epithelium, the primary and secondary palate, the molar tooth papillae, and the stroma of the submandibular gland, appear to be derived from ectomesenchyme of neural crest origin. By day 16.5, all areas except the developing molars are BARX1-negative. In addition, BARX1 marks the area of the future stomach in the primitive gut at embryonic day 9.5, and is present in the mesenchymal wall of the stomach until embryonic day 16.5. Belongs to the BAR homeobox family. RNA polymerase II regulatory region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell-cell signaling tissue development anterior/posterior pattern specification negative regulation of Wnt signaling pathway epithelial cell differentiation sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter animal organ development spleen development anatomical structure development digestive system development uc007qil.1 uc007qil.2 uc007qil.3 
ENSMUST00000021818.9 Cenpp ENSMUST00000021818.9 centromere protein P (from RefSeq NM_025495.4) CENPP_MOUSE ENSMUST00000021818.1 ENSMUST00000021818.2 ENSMUST00000021818.3 ENSMUST00000021818.4 ENSMUST00000021818.5 ENSMUST00000021818.6 ENSMUST00000021818.7 ENSMUST00000021818.8 NM_025495 Q52KM2 Q8C647 Q9CVW9 Q9CZ92 Q9D5U7 uc007qjk.1 uc007qjk.2 uc007qjk.3 Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex (By similarity). Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex interacts with the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU (By similarity). Nucleus Chromosome, centromere Note=Localizes exclusively in the centromeres. The CENPA-CAD complex is probably recruited on centromeres by the CENPA-NAC complex (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CZ92-1; Sequence=Displayed; Name=2; IsoId=Q9CZ92-2; Sequence=VSP_020449, VSP_020450; Belongs to the CENP-P/CTF19 family. Sequence=BAB24472.1; Type=Frameshift; Evidence=; Sequence=BAB29620.1; Type=Erroneous initiation; Evidence=; Sequence=BAC36401.1; Type=Frameshift; Evidence=; Sequence=BC094280; Type=Frameshift; Evidence=; chromosome, centromeric region molecular_function nucleus chromosome nucleolus biological_process CENP-A containing nucleosome assembly uc007qjk.1 uc007qjk.2 uc007qjk.3 
ENSMUST00000021822.7 Ogn ENSMUST00000021822.7 osteoglycin (from RefSeq NM_008760.5) ENSMUST00000021822.1 ENSMUST00000021822.2 ENSMUST00000021822.3 ENSMUST00000021822.4 ENSMUST00000021822.5 ENSMUST00000021822.6 MIME_MOUSE NM_008760 Og Q62000 uc007qjr.1 uc007qjr.2 uc007qjr.3 Induces bone formation in conjunction with TGF-beta-1 or TGF- beta-2. Secreted, extracellular space, extracellular matrix Contains keratan sulfate. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class III subfamily. extracellular region extracellular space signal transduction growth factor activity extracellular matrix structural constituent conferring compression resistance uc007qjr.1 uc007qjr.2 uc007qjr.3 
ENSMUST00000021828.6 Nxnl2 ENSMUST00000021828.6 nucleoredoxin-like 2, transcript variant 1 (from RefSeq NM_029173.5) ENSMUST00000021828.1 ENSMUST00000021828.2 ENSMUST00000021828.3 ENSMUST00000021828.4 ENSMUST00000021828.5 NM_029173 NXNL2_MOUSE Q91WB0 Q9D531 uc007qme.1 uc007qme.2 uc007qme.3 May be involved in the maintenance of both the function and the viability of sensory neurons, including photoreceptors and olfactory neurons. In the retina, isoform 1 may be required for rod function and isoform 2 for cone viability and function. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=RdCVF2_L; IsoId=Q9D531-3; Sequence=Displayed; Name=2; Synonyms=RdCVF2, RdCVF2_S; IsoId=Q9D531-4; Sequence=VSP_053273, VSP_053274; Both isoforms are expressed in retina, in the photoreceptor layer, and throughout the olfactory sensory neuron layer of the nasal epithelium, in neurons. Also expressed at low levels in brain and testis. At 10 months of age, mutant animals show signs of photoreceptor dysfunction. The progressive loss of cone function is followed by cone cell death, while in rods, the outer segment length id reduced, but not rod cell death is not observed. At 12 months, mice present a stronger age-dependent impairment of fine odor discrimination than their wild-type counterparts. Belongs to the nucleoredoxin family. sensory perception visual perception sensory perception of smell photoreceptor cell maintenance uc007qme.1 uc007qme.2 uc007qme.3 
ENSMUST00000021832.7 Wrnip1 ENSMUST00000021832.7 Werner helicase interacting protein 1 (from RefSeq NM_030215.3) ENSMUST00000021832.1 ENSMUST00000021832.2 ENSMUST00000021832.3 ENSMUST00000021832.4 ENSMUST00000021832.5 ENSMUST00000021832.6 NM_030215 Q3TCT7 Q6PDF0 Q8BUW5 Q8BWP6 Q8BY55 Q91XU0 Q921W3 Q9EQL3 WRIP1_MOUSE Whip Wrnip1 uc007pzt.1 uc007pzt.2 uc007pzt.3 uc007pzt.4 Functions as a modulator of initiation or reinitiation events during DNA polymerase delta-mediated DNA synthesis. In the presence of ATP, stimulation of DNA polymerase delta-mediated DNA synthesis is decreased. Also plays a role in the innate immune defense against viruses. Stabilizes the RIGI dsRNA interaction and promotes RIGI 'Lys- 63'-linked polyubiquitination. In turn, RIGI transmits the signal through mitochondrial MAVS. Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; Evidence=; Forms homooligomers, possibly octamers. Directly interacts with POLD1, POLD2 and POLD4 (By similarity). Interacts with the N- terminal domain of WRN (By similarity). Interacts (via UBZ4-type zinc finger) with monoubiquitin and polyubiquitin. Interacts with TRIM14 and PPP6C; these interactions positively regulate the RIGI signaling pathway (By similarity). Nucleus Cytoplasm Note=Colocalizes with WRN in granular structures in the nucleus. Event=Alternative splicing; Named isoforms=2; Name=1 ; IsoId=Q91XU0-1; Sequence=Displayed; Name=2 ; IsoId=Q91XU0-2; Sequence=VSP_051784, VSP_051785; Ubiquitously expressed. The UBZ4-type zinc finger binds ubiquitin. Sumoylated with SUMO1 and SUMO2/3. [Isoform 2]: Due to intron retention. Belongs to the AAA ATPase family. RarA/MGS1/WRNIP1 subfamily. Sequence=AAG35725.1; Type=Frameshift; Evidence=; nucleotide binding DNA synthesis involved in DNA repair nuclear chromosome, telomeric region immune system process DNA binding protein binding ATP binding nucleus cytoplasm DNA replication DNA-dependent DNA replication DNA repair regulation of DNA repair cellular response to DNA damage stimulus enzyme activator activity hydrolase activity ATPase activity regulation of DNA-dependent DNA replication initiation identical protein binding positive regulation of catalytic activity innate immune response metal ion binding perinuclear region of cytoplasm uc007pzt.1 uc007pzt.2 uc007pzt.3 uc007pzt.4 
ENSMUST00000021834.11 Serpinb1c ENSMUST00000021834.11 serine (or cysteine) peptidase inhibitor, clade B, member 1c, transcript variant 1 (from RefSeq NM_173051.2) ENSMUST00000021834.1 ENSMUST00000021834.10 ENSMUST00000021834.2 ENSMUST00000021834.3 ENSMUST00000021834.4 ENSMUST00000021834.5 ENSMUST00000021834.6 ENSMUST00000021834.7 ENSMUST00000021834.8 ENSMUST00000021834.9 ILEUC_MOUSE NM_173051 Q5SV42 Q5SW82 Q8K3Y1 uc007pzw.1 uc007pzw.2 uc007pzw.3 uc007pzw.4 Regulates the activity of the neutrophil proteases. Forms only a stable complex with CTSG/Cathepsin G (By similarity). During inflammation, limits the activity of inflammatory caspases CASP1 and CASP4 by suppressing their caspase-recruitment domain (CARD) oligomerization and enzymatic activation (PubMed:30692621). Monomer. Interacts (via C-terminus) with CASP1 and CASP4 (via CARD domain); these interactions regulate the activity of inflammatory caspases. Cytoplasm Expressed in heart. Belongs to the serpin family. Ov-serpin subfamily. Sequence=CAI25076.1; Type=Erroneous gene model prediction; Evidence=; serine-type endopeptidase inhibitor activity protein binding extracellular space cytoplasm negative regulation of peptidase activity negative regulation of endopeptidase activity peptidase inhibitor activity negative regulation of interleukin-1 beta secretion uc007pzw.1 uc007pzw.2 uc007pzw.3 uc007pzw.4 
ENSMUST00000021837.10 Serpinb9c ENSMUST00000021837.10 serine (or cysteine) peptidase inhibitor, clade B, member 9c, transcript variant 1 (from RefSeq NM_001164524.1) ENSMUST00000021837.1 ENSMUST00000021837.2 ENSMUST00000021837.3 ENSMUST00000021837.4 ENSMUST00000021837.5 ENSMUST00000021837.6 ENSMUST00000021837.7 ENSMUST00000021837.8 ENSMUST00000021837.9 I7HJI5 I7HJI5_MOUSE NM_001164524 Serpinb9c uc007qac.1 uc007qac.2 uc007qac.3 uc007qac.4 Belongs to the serpin family. serine-type endopeptidase inhibitor activity extracellular space cytoplasm negative regulation of endopeptidase activity uc007qac.1 uc007qac.2 uc007qac.3 uc007qac.4 
ENSMUST00000021851.8 Fam217a ENSMUST00000021851.8 family with sequence similarity 217, member A (from RefSeq NM_027967.1) 1700026J04Rik ENSMUST00000021851.1 ENSMUST00000021851.2 ENSMUST00000021851.3 ENSMUST00000021851.4 ENSMUST00000021851.5 ENSMUST00000021851.6 ENSMUST00000021851.7 F8WGE0 F8WGE0_MOUSE Fam217a NM_027967 uc011yyi.1 uc011yyi.2 uc011yyi.3 uc011yyi.1 uc011yyi.2 uc011yyi.3 
ENSMUST00000021853.12 Eci3 ENSMUST00000021853.12 enoyl-Coenzyme A delta isomerase 3, transcript variant 1 (from RefSeq NM_026947.5) D3U0D8 ECI3_MOUSE ENSMUST00000021853.1 ENSMUST00000021853.10 ENSMUST00000021853.11 ENSMUST00000021853.2 ENSMUST00000021853.3 ENSMUST00000021853.4 ENSMUST00000021853.5 ENSMUST00000021853.6 ENSMUST00000021853.7 ENSMUST00000021853.8 ENSMUST00000021853.9 Eci3 NM_026947 Q78JN3 uc007qbv.1 uc007qbv.2 uc007qbv.3 Catalyzes the isomerization of trans-3-nonenoyl-CoA into trans-2-nonenoyl-CoA (PubMed:24344334). May also have activity towards other enoyl-CoA species (Probable). Reaction=a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA; Xref=Rhea:RHEA:45900, ChEBI:CHEBI:85097, ChEBI:CHEBI:85489; EC=5.3.3.8; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45901; Evidence=; Reaction=a (3E)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA; Xref=Rhea:RHEA:45228, ChEBI:CHEBI:58521, ChEBI:CHEBI:85097; EC=5.3.3.8; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45229; Evidence=; Reaction=(3E)-nonenoyl-CoA = (2E)-nonenoyl-CoA; Xref=Rhea:RHEA:46068, ChEBI:CHEBI:76292, ChEBI:CHEBI:85655; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46069; Evidence=; Peroxisome Expressed at high levels in the kidney. Also detected at very low levels in the duodenum, jejunum, ileum, heart, liver, lung, and brown adipose tissue (at protein level). In the kidney, expression seems to be localized mainly to the proximal tubule. The ACB (acyl-CoA-binding) domain is truncated and may be non- functional. Belongs to the enoyl-CoA hydratase/isomerase family. fatty-acyl-CoA binding catalytic activity dodecenoyl-CoA delta-isomerase activity peroxisome fatty acid beta-oxidation isomerase activity uc007qbv.1 uc007qbv.2 uc007qbv.3 
ENSMUST00000021854.14 Eci2 ENSMUST00000021854.14 enoyl-Coenzyme A delta isomerase 2, transcript variant 2 (from RefSeq NM_011868.3) ECI2_MOUSE ENSMUST00000021854.1 ENSMUST00000021854.10 ENSMUST00000021854.11 ENSMUST00000021854.12 ENSMUST00000021854.13 ENSMUST00000021854.2 ENSMUST00000021854.3 ENSMUST00000021854.4 ENSMUST00000021854.5 ENSMUST00000021854.6 ENSMUST00000021854.7 ENSMUST00000021854.8 ENSMUST00000021854.9 Eci2 NM_011868 Peci Q99M61 Q9D785 Q9WUR2 uc007qbx.1 uc007qbx.2 uc007qbx.3 uc007qbx.4 uc007qbx.5 Able to isomerize both 3-cis and 3-trans double bonds into the 2-trans form in a range of enoyl-CoA species (PubMed:24344334). Has a preference for 3-trans substrates (By similarity). Reaction=a (3Z)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA; Xref=Rhea:RHEA:45900, ChEBI:CHEBI:85097, ChEBI:CHEBI:85489; EC=5.3.3.8; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45901; Evidence=; Reaction=a (3E)-enoyl-CoA = a 4-saturated (2E)-enoyl-CoA; Xref=Rhea:RHEA:45228, ChEBI:CHEBI:58521, ChEBI:CHEBI:85097; EC=5.3.3.8; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45229; Evidence=; Reaction=(3E)-nonenoyl-CoA = (2E)-nonenoyl-CoA; Xref=Rhea:RHEA:46068, ChEBI:CHEBI:76292, ChEBI:CHEBI:85655; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46069; Evidence=; Reaction=(2E)-tetradecenoyl-CoA = (3Z)-tetradecenoyl-CoA; Xref=Rhea:RHEA:29847, ChEBI:CHEBI:61405, ChEBI:CHEBI:61968; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:29849; Evidence=; Reaction=(3E)-tetradecenoyl-CoA = (2E)-tetradecenoyl-CoA; Xref=Rhea:RHEA:47476, ChEBI:CHEBI:61405, ChEBI:CHEBI:87710; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47477; Evidence=; Reaction=(3E)-octenoyl-CoA = (2E)-octenoyl-CoA; Xref=Rhea:RHEA:49852, ChEBI:CHEBI:62242, ChEBI:CHEBI:131962; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:49853; Evidence=; Reaction=(3Z)-octenoyl-CoA = (2E)-octenoyl-CoA; Xref=Rhea:RHEA:46044, ChEBI:CHEBI:62242, ChEBI:CHEBI:85640; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:46045; Evidence=; Lipid metabolism; fatty acid beta-oxidation. [Isoform 1]: Mitochondrion [Isoform 2]: Peroxisome matrix Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9WUR2-1; Sequence=Displayed; Name=2; Synonyms=PECI ; IsoId=Q9WUR2-2; Sequence=VSP_037855; Expressed in liver and kidney (at protein level). Acetylation of Lys-60 is observed in liver mitochondria from fasted mice but not from fed mice. In the C-terminal section; belongs to the enoyl-CoA hydratase/isomerase family. Sequence=AAH01983.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; fatty-acyl-CoA binding catalytic activity dodecenoyl-CoA delta-isomerase activity nucleoplasm mitochondrion peroxisome peroxisomal matrix fatty acid beta-oxidation fatty acid catabolic process isomerase activity intramolecular oxidoreductase activity, transposing C=C bonds intracellular membrane-bounded organelle uc007qbx.1 uc007qbx.2 uc007qbx.3 uc007qbx.4 uc007qbx.5 
ENSMUST00000021857.13 Fars2 ENSMUST00000021857.13 phenylalanine-tRNA synthetase 2, mitochondrial, transcript variant 1 (from RefSeq NM_024274.3) ENSMUST00000021857.1 ENSMUST00000021857.10 ENSMUST00000021857.11 ENSMUST00000021857.12 ENSMUST00000021857.2 ENSMUST00000021857.3 ENSMUST00000021857.4 ENSMUST00000021857.5 ENSMUST00000021857.6 ENSMUST00000021857.7 ENSMUST00000021857.8 ENSMUST00000021857.9 Fars1 NM_024274 Q3TBZ7 Q99M01 Q9CYY0 SYFM_MOUSE uc007qck.1 uc007qck.2 uc007qck.3 uc007qck.4 Is responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins (By similarity). Reaction=ATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + H(+) + L-phenylalanyl-tRNA(Phe); Xref=Rhea:RHEA:19413, Rhea:RHEA-COMP:9668, Rhea:RHEA-COMP:9699, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58095, ChEBI:CHEBI:78442, ChEBI:CHEBI:78531, ChEBI:CHEBI:456215; EC=6.1.1.20; Evidence=; Monomer. Mitochondrion matrix Mitochondrion Belongs to the class-II aminoacyl-tRNA synthetase family. tRNA binding nucleotide binding aminoacyl-tRNA ligase activity phenylalanine-tRNA ligase activity ATP binding cytoplasm mitochondrion mitochondrial matrix translation phenylalanyl-tRNA aminoacylation tRNA processing ligase activity tRNA aminoacylation uc007qck.1 uc007qck.2 uc007qck.3 uc007qck.4 
ENSMUST00000021860.7 Ly86 ENSMUST00000021860.7 lymphocyte antigen 86, transcript variant 1 (from RefSeq NM_010745.3) ENSMUST00000021860.1 ENSMUST00000021860.2 ENSMUST00000021860.3 ENSMUST00000021860.4 ENSMUST00000021860.5 ENSMUST00000021860.6 LY86_MOUSE Md1 NM_010745 O88188 Q4VAF1 Q5D046 uc007qcr.1 uc007qcr.2 uc007qcr.3 uc007qcr.4 May cooperate with CD180 and TLR4 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) and cytokine production. Important for efficient CD180 cell surface expression. M-shaped tetramer of two CD180-LY86 heterodimers. O88188; Q62192: Cd180; NbExp=5; IntAct=EBI-79494, EBI-79487; Secreted, extracellular space. Note=Associated with CD180 at the cell surface. Highly expressed in spleen, liver, brain and thymus, and at lower levels in kidney. immune system process protein binding extracellular region extracellular space inflammatory response immune response positive regulation of lipopolysaccharide-mediated signaling pathway innate immune response uc007qcr.1 uc007qcr.2 uc007qcr.3 uc007qcr.4 
ENSMUST00000021864.8 Ssr1 ENSMUST00000021864.8 signal sequence receptor, alpha, transcript variant 1 (from RefSeq NM_025965.4) ENSMUST00000021864.1 ENSMUST00000021864.2 ENSMUST00000021864.3 ENSMUST00000021864.4 ENSMUST00000021864.5 ENSMUST00000021864.6 ENSMUST00000021864.7 NM_025965 Q3TIM3 Q99MP2 Q9CY50 SSRA_MOUSE uc011yyk.1 uc011yyk.2 uc011yyk.3 TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. May be involved in the recycling of the translocation apparatus after completion of the translocation process or may function as a membrane-bound chaperone facilitating folding of translocated proteins. Heterotetramer of TRAP-alpha, TRAP-beta, TRAP-delta and TRAP- gamma. Interacts with palmitoylated calnexin (CALX), the interaction is required for efficient folding of glycosylated proteins (By similarity). Endoplasmic reticulum membrane ; Single-pass type I membrane protein Shows a remarkable charge distribution with the N-terminus being highly negatively charged, and the cytoplasmic C-terminus positively charged. Seems to bind calcium. Belongs to the TRAP-alpha family. endoplasmic reticulum endoplasmic reticulum membrane membrane integral component of membrane uc011yyk.1 uc011yyk.2 uc011yyk.3 
ENSMUST00000021866.10 Riok1 ENSMUST00000021866.10 RIO kinase 1 (from RefSeq NM_024242.3) ENSMUST00000021866.1 ENSMUST00000021866.2 ENSMUST00000021866.3 ENSMUST00000021866.4 ENSMUST00000021866.5 ENSMUST00000021866.6 ENSMUST00000021866.7 ENSMUST00000021866.8 ENSMUST00000021866.9 NM_024242 Q3U7D5 Q922Q2 Q99LZ1 Q9CU84 Q9CXN9 RIOK1_MOUSE uc007qdi.1 uc007qdi.2 uc007qdi.3 uc007qdi.4 This gene encodes a member of the RIO family of atypical serine protein kinases. A similar protein in humans is a component of the protein arginine methyltransferase 5 complex that specifically recruits the RNA-binding protein nucleolin as a methylation substrate. [provided by RefSeq, Feb 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AK152707.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849380 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in the final steps of cytoplasmic maturation of the 40S ribosomal subunit. Involved in processing of 18S-E pre-rRNA to the mature 18S rRNA. Required for the recycling of NOB1 and PNO1 from the late 40S precursor (By similarity). The association with the very late 40S subunit intermediate may involve a translation-like checkpoint point cycle preceeding the binding to the 60S ribosomal subunit (By similarity). Despite the protein kinase domain is proposed to act predominantly as an ATPase (By similarity). The catalytic activity regulates its dynamic association with the 40S subunit (By similarity). In addition to its role in ribosomal biogenesis acts as an adapter protein by recruiting NCL/nucleolin the to PRMT5 complex for its symmetrical methylation (By similarity). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Associates with the precursor of the 40S ribosome subunit. Interacts (via its N-terminus) with PRMT5 (via its N-terminus). Interacts with WDR77 (By similarity). Found in a PRMT5 complex composed of PRMT5, WDR77 and RIOK1 (By similarity). Interacts (via its C- terminus) with NCL; this interaction targets NCL for PRTM5 methylation (By similarity). Cytoplasm, cytosol Belongs to the protein kinase superfamily. RIO-type Ser/Thr kinase family. Sequence=AAH02158.1; Type=Erroneous initiation; Evidence=; Sequence=BAB29195.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAB29195.1; Type=Frameshift; Evidence=; Sequence=BAB29195.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence=; Sequence=BAB30687.2; Type=Erroneous initiation; Evidence=; nucleotide binding protein serine/threonine kinase activity ATP binding cytoplasm cytosol protein phosphorylation kinase activity phosphorylation transferase activity hydrolase activity maturation of SSU-rRNA preribosome, small subunit precursor methyltransferase complex ribosome biogenesis ribosomal small subunit biogenesis metal ion binding positive regulation of rRNA processing uc007qdi.1 uc007qdi.2 uc007qdi.3 uc007qdi.4 
ENSMUST00000021880.10 Ctla2a ENSMUST00000021880.10 cytotoxic T lymphocyte-associated protein 2 alpha, transcript variant 1 (from RefSeq NM_007796.2) CTL2A_MOUSE ENSMUST00000021880.1 ENSMUST00000021880.2 ENSMUST00000021880.3 ENSMUST00000021880.4 ENSMUST00000021880.5 ENSMUST00000021880.6 ENSMUST00000021880.7 ENSMUST00000021880.8 ENSMUST00000021880.9 NM_007796 P12399 Q91V07 uc007qvx.1 uc007qvx.2 uc007qvx.3 Not known, expressed in activated T-cell. Secreted To the propeptide regions of cysteine proteases. Sequence=CAA33614.1; Type=Erroneous initiation; Evidence=; extracellular region negative regulation of protein processing dendrite regulation of regulatory T cell differentiation negative regulation of inflammatory response uc007qvx.1 uc007qvx.2 uc007qvx.3 
ENSMUST00000021885.8 Tpbpa ENSMUST00000021885.8 trophoblast specific protein alpha (from RefSeq NM_009411.5) ENSMUST00000021885.1 ENSMUST00000021885.2 ENSMUST00000021885.3 ENSMUST00000021885.4 ENSMUST00000021885.5 ENSMUST00000021885.6 ENSMUST00000021885.7 NM_009411 Q9CPR0 Q9CPR0_MOUSE Tpbpa uc007qvz.1 uc007qvz.2 uc007qvz.3 uc007qvz.1 uc007qvz.2 uc007qvz.3 
ENSMUST00000021888.9 Ctsq ENSMUST00000021888.9 cathepsin Q (from RefSeq NM_029636.3) CtsQ Ctsq ENSMUST00000021888.1 ENSMUST00000021888.2 ENSMUST00000021888.3 ENSMUST00000021888.4 ENSMUST00000021888.5 ENSMUST00000021888.6 ENSMUST00000021888.7 ENSMUST00000021888.8 NM_029636 Q91ZF4 Q91ZF4_MOUSE uc007qwd.1 uc007qwd.2 uc007qwd.3 uc007qwd.4 Belongs to the peptidase C1 family. cysteine-type endopeptidase activity extracellular space lysosome proteolysis cysteine-type peptidase activity proteolysis involved in cellular protein catabolic process uc007qwd.1 uc007qwd.2 uc007qwd.3 uc007qwd.4 
ENSMUST00000021889.6 Ctsr ENSMUST00000021889.6 cathepsin R (from RefSeq NM_020284.1) CATR_MOUSE Catr ENSMUST00000021889.1 ENSMUST00000021889.2 ENSMUST00000021889.3 ENSMUST00000021889.4 ENSMUST00000021889.5 NM_020284 Q9JIA9 uc007qwe.1 uc007qwe.2 uc007qwe.3 Lysosome Placenta. Expressed in adult but not in embryo. Belongs to the peptidase C1 family. cysteine-type endopeptidase activity extracellular space lysosome proteolysis peptidase activity cysteine-type peptidase activity hydrolase activity protein catabolic process proteolysis involved in cellular protein catabolic process uc007qwe.1 uc007qwe.2 uc007qwe.3 
ENSMUST00000021890.5 Cts6 ENSMUST00000021890.5 cathepsin 6 (from RefSeq NM_021445.1) Cts6 ENSMUST00000021890.1 ENSMUST00000021890.2 ENSMUST00000021890.3 ENSMUST00000021890.4 NM_021445 Q9ET52 Q9ET52_MOUSE uc007qwf.1 uc007qwf.2 uc007qwf.3 Belongs to the peptidase C1 family. cysteine-type endopeptidase activity extracellular space lysosome proteolysis cysteine-type peptidase activity proteolysis involved in cellular protein catabolic process uc007qwf.1 uc007qwf.2 uc007qwf.3 
ENSMUST00000021891.5 Cts8 ENSMUST00000021891.5 cathepsin 8 (from RefSeq NM_019541.3) CAT8_MOUSE Cts2 Cts8 ENSMUST00000021891.1 ENSMUST00000021891.2 ENSMUST00000021891.3 ENSMUST00000021891.4 Epcs68 Epcs70 NM_019541 Q6NV96 Q9JI81 uc007qwg.1 uc007qwg.2 uc007qwg.3 uc007qwg.4 Probable protease (By similarity). In placenta, plays a role in promoting giant cell differentiation (PubMed:18776147). Also plays a role in placental spiral artery remodeling by direct degradation of smooth muscle alpha-actin (PubMed:18776147). Secreted Lysosome Endosome Note=Localizes to the cytoplasm with a punctate staining pattern indicative of a predominant lysosomal and endosomal localization. Expressed in placenta (PubMed:11829493, PubMed:10885754, PubMed:18776147). Highly expressed in a subset of trophoblast giant cells in the parietal yolk sac and at the outside of the ectoplacental cone (PubMed:10885754). Expressed at highest level in liver with lesser amounts in testis, kidney, heart, lung and brain (PubMed:10885754). Not detected in spleen and skeletal muscle (PubMed:10885754, PubMed:11829493). Not detected in blood, heart, brain, testis, liver, lung, kidney, thymus or uterus (PubMed:11829493). Detected from 5.5 dpc in parietal trophoblast giant cells (PubMed:18776147, PubMed:10885754). Detected at 8.5 dpc in placenta, and shows increased expression level from 13.5 to 19.5 dpc (PubMed:11829493). Belongs to the peptidase C1 family. blood vessel remodeling cysteine-type endopeptidase activity extracellular region extracellular space lysosome endosome proteolysis peptidase activity cysteine-type peptidase activity hydrolase activity protein catabolic process proteolysis involved in cellular protein catabolic process trophoblast giant cell differentiation uc007qwg.1 uc007qwg.2 uc007qwg.3 uc007qwg.4 
ENSMUST00000021900.14 Sema4d ENSMUST00000021900.14 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D, transcript variant 2 (from RefSeq NM_013660.5) ENSMUST00000021900.1 ENSMUST00000021900.10 ENSMUST00000021900.11 ENSMUST00000021900.12 ENSMUST00000021900.13 ENSMUST00000021900.2 ENSMUST00000021900.3 ENSMUST00000021900.4 ENSMUST00000021900.5 ENSMUST00000021900.6 ENSMUST00000021900.7 ENSMUST00000021900.8 ENSMUST00000021900.9 NM_013660 O09126 Q6GTM9 SEM4D_MOUSE Semacl2 Semaj uc007qmo.1 uc007qmo.2 uc007qmo.3 uc007qmo.4 Cell surface receptor for PLXNB1 and PLXNB2 that plays an important role in cell-cell signaling (By similarity). Regulates GABAergic synapse development (PubMed:23699507, PubMed:29981480). Promotes the development of inhibitory synapses in a PLXNB1-dependent manner (PubMed:23699507, PubMed:29981480). Modulates the complexity and arborization of developing neurites in hippocampal neurons by activating PLXNB1 and interaction with PLXNB1 mediates activation of RHOA (By similarity). Promotes the migration of cerebellar granule cells (PubMed:17554007). Plays a role in the immune system; induces B- cells to aggregate and improves their viability (in vitro) (By similarity). Induces endothelial cell migration through the activation of PTK2B/PYK2, SRC, and the phosphatidylinositol 3-kinase-AKT pathway (By similarity). Homodimer (By similarity). Interacts with PLXNB1 (By similarity). Interacts with PLXNB2 (PubMed:17554007). Cell membrane ; Single-pass type I membrane protein Strongly expressed in lymphoid tissues, especially in the thymus, as well as in the nervous tissues (PubMed:8969198). Expressed in neurons and glia in the developing hippocampus (PubMed:29981480). Belongs to the semaphorin family. negative regulation of transcription from RNA polymerase II promoter neural crest cell migration positive regulation of protein phosphorylation transmembrane signaling receptor activity receptor binding protein binding extracellular space plasma membrane integral component of plasma membrane negative regulation of cell adhesion multicellular organism development nervous system development regulation of cell shape negative regulation of alkaline phosphatase activity positive regulation of phosphatidylinositol 3-kinase signaling membrane integral component of membrane cell differentiation semaphorin receptor binding positive regulation of cell migration regulation of cell projection organization signaling receptor activity identical protein binding positive regulation of GTPase activity ossification involved in bone maturation chemorepellent activity negative regulation of osteoblast differentiation positive regulation of collateral sprouting regulation of dendrite morphogenesis negative regulation of axon extension involved in axon guidance positive regulation of peptidyl-tyrosine phosphorylation negative regulation of peptidyl-tyrosine phosphorylation positive regulation of axonogenesis negative chemotaxis leukocyte aggregation semaphorin-plexin signaling pathway semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis positive regulation of inhibitory synapse assembly uc007qmo.1 uc007qmo.2 uc007qmo.3 uc007qmo.4 
ENSMUST00000021903.3 Gadd45g ENSMUST00000021903.3 growth arrest and DNA-damage-inducible 45 gamma (from RefSeq NM_011817.2) ENSMUST00000021903.1 ENSMUST00000021903.2 Gadd45g NM_011817 Q9R0S0 Q9R0S0_MOUSE oig37 uc007qmq.1 uc007qmq.2 uc007qmq.3 uc007qmq.4 uc007qmq.5 Belongs to the GADD45 family. activation of MAPKKK activity nucleus cytoplasm positive regulation of apoptotic process positive regulation of JNK cascade regulation of cell cycle positive regulation of p38MAPK cascade uc007qmq.1 uc007qmq.2 uc007qmq.3 uc007qmq.4 uc007qmq.5 
ENSMUST00000021907.9 Fbp2 ENSMUST00000021907.9 fructose bisphosphatase 2 (from RefSeq NM_007994.4) ENSMUST00000021907.1 ENSMUST00000021907.2 ENSMUST00000021907.3 ENSMUST00000021907.4 ENSMUST00000021907.5 ENSMUST00000021907.6 ENSMUST00000021907.7 ENSMUST00000021907.8 Fbp2 NM_007994 Q3TKP4 Q3TKP4_MOUSE uc007qxf.1 uc007qxf.2 uc007qxf.3 Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations and probably participates in glycogen synthesis from carbohydrate precursors, such as lactate. Reaction=beta-D-fructose 1,6-bisphosphate + H2O = beta-D-fructose 6- phosphate + phosphate; Xref=Rhea:RHEA:11064, ChEBI:CHEBI:15377, ChEBI:CHEBI:32966, ChEBI:CHEBI:43474, ChEBI:CHEBI:57634; EC=3.1.3.11; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Carbohydrate biosynthesis; gluconeogenesis. Homotetramer. Interacts with ALDOA; the interaction blocks inhibition by physiological concentrations of AMP and reduces inhibition by Ca(2+). Interacts with alpha-actinin and F-actin. Cell junction Cytoplasm, myofibril, sarcomere, Z line Nucleus Belongs to the FBPase class 1 family. nucleoplasm plasma membrane carbohydrate metabolic process gluconeogenesis dephosphorylation hydrolase activity phosphatase activity fructose 1,6-bisphosphate 1-phosphatase activity phosphoric ester hydrolase activity identical protein binding uc007qxf.1 uc007qxf.2 uc007qxf.3 
ENSMUST00000021913.16 Auh ENSMUST00000021913.16 AU RNA binding protein/enoyl-coenzyme A hydratase, transcript variant 1 (from RefSeq NM_016709.3) A0A0R4J023 A0A0R4J023_MOUSE Auh ENSMUST00000021913.1 ENSMUST00000021913.10 ENSMUST00000021913.11 ENSMUST00000021913.12 ENSMUST00000021913.13 ENSMUST00000021913.14 ENSMUST00000021913.15 ENSMUST00000021913.2 ENSMUST00000021913.3 ENSMUST00000021913.4 ENSMUST00000021913.5 ENSMUST00000021913.6 ENSMUST00000021913.7 ENSMUST00000021913.8 ENSMUST00000021913.9 NM_016709 uc007qnd.1 uc007qnd.2 uc007qnd.3 Belongs to the enoyl-CoA hydratase/isomerase family. mRNA 3'-UTR binding catalytic activity enoyl-CoA hydratase activity uc007qnd.1 uc007qnd.2 uc007qnd.3 
ENSMUST00000021918.10 Ror2 ENSMUST00000021918.10 receptor tyrosine kinase-like orphan receptor 2 (from RefSeq NM_013846.4) ENSMUST00000021918.1 ENSMUST00000021918.2 ENSMUST00000021918.3 ENSMUST00000021918.4 ENSMUST00000021918.5 ENSMUST00000021918.6 ENSMUST00000021918.7 ENSMUST00000021918.8 ENSMUST00000021918.9 NM_013846 Q8C3W2 Q8C3W2_MOUSE Ror2 uc007qnj.1 uc007qnj.2 uc007qnj.3 Membrane ; Single- pass type I membrane protein Belongs to the protein kinase superfamily. Tyr protein kinase family. ROR subfamily. Lacks conserved residue(s) required for the propagation of feature annotation. nucleotide binding protein kinase activity ATP binding protein phosphorylation transmembrane receptor protein tyrosine kinase signaling pathway membrane integral component of membrane kinase activity phosphorylation uc007qnj.1 uc007qnj.2 uc007qnj.3 
ENSMUST00000021920.8 Sptlc1 ENSMUST00000021920.8 serine palmitoyltransferase, long chain base subunit 1, transcript variant 8 (from RefSeq NR_189737.1) ENSMUST00000021920.1 ENSMUST00000021920.2 ENSMUST00000021920.3 ENSMUST00000021920.4 ENSMUST00000021920.5 ENSMUST00000021920.6 ENSMUST00000021920.7 Lcb1 NR_189737 O35704 O54813 Q8BH11 SPTC1_MOUSE uc007qnk.1 uc007qnk.2 uc007qnk.3 uc007qnk.4 Component of the serine palmitoyltransferase multisubunit enzyme (SPT) that catalyzes the initial and rate-limiting step in sphingolipid biosynthesis by condensing L-serine and activated acyl-CoA (most commonly palmitoyl-CoA) to form long-chain bases (PubMed:28100772). The SPT complex is also composed of SPTLC2 or SPTLC3 and SPTSSA or SPTSSB. Within this complex, the heterodimer with SPTLC2 or SPTLC3 forms the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference (By similarity). Required for adipocyte cell viability and metabolic homeostasis (PubMed:28100772). Reaction=H(+) + hexadecanoyl-CoA + L-serine = 3-oxosphinganine + CO2 + CoA; Xref=Rhea:RHEA:14761, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:33384, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:58299; EC=2.3.1.50; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:14762; Evidence=; Reaction=H(+) + L-serine + octadecanoyl-CoA = 3-oxoeicosasphinganine + CO2 + CoA; Xref=Rhea:RHEA:33683, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:33384, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:65073; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:33684; Evidence=; Reaction=H(+) + L-serine + tetradecanoyl-CoA = 3-oxohexadecasphinganine + CO2 + CoA; Xref=Rhea:RHEA:35675, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:33384, ChEBI:CHEBI:57287, ChEBI:CHEBI:57385, ChEBI:CHEBI:71007; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:35676; Evidence=; Reaction=dodecanoyl-CoA + H(+) + L-serine = 3-oxotetradecasphinganine + CO2 + CoA; Xref=Rhea:RHEA:35679, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:33384, ChEBI:CHEBI:57287, ChEBI:CHEBI:57375, ChEBI:CHEBI:71008; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:35680; Evidence=; Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326; Evidence=; SPT complex catalytic activity is negatively regulated by ORMDL proteins, including ORMDL3, in the presence of ceramides (By similarity). This mechanism allows to maintain ceramide levels at sufficient concentrations for the production of complex sphingolipids, but which prevents the accumulation of ceramides to levels that trigger apoptosis (Probable). Lipid metabolism; sphingolipid metabolism. Component of the serine palmitoyltransferase (SPT) complex, which is also composed of SPTLC2 or SPTLC3 and SPTSSA or SPTSSB (By similarity). The heterodimer with SPTLC2 or SPTLC3 forms the catalytic core of the enzyme, while SPTSSA or SPTSSB subunits determine substrate specificity (By similarity). SPT also interacts with ORMDL proteins, especially ORMDL3, which negatively regulate SPT activity in the presence of ceramides (By similarity). Forms dimers of heterodimers with SPTLC2 (By similarity). Interacts with RTN4 (isoform B) (PubMed:26301690). Endoplasmic reticulum membrane ; Single-pass membrane protein Expressed in a variety of tissues. Highest expression in brain, kidney and liver (PubMed:21994399). Expressed in brown and white adipose tissues (PubMed:27818258). Highly expressed after birth, expression decreases 2 weeks after birth and is maintained until, at least, 18 months. Expression levels at protein level increase upon high-fat diet. mRNA levels remain unchanged. The transmembrane domain is involved in the interaction with ORMDL3. Phosphorylation at Tyr-164 inhibits activity and promotes cell survival. Knockout are lethal at embryonic stage (PubMed:28100772). Conditional knockouts specific to the adipose tissue develop adipose tissue but exhibit a striking age dependent loss of adipose tissue accompanied by evidence of adipocyte death, increased macrophage infiltration and tissue fibrosis. They also have elevated fasting blood glucose, fatty liver and insulin resistance. They show a significant reduction of total sphingomyelin levels in the adipose tissue (PubMed:28100772). Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. catalytic activity serine C-palmitoyltransferase activity protein binding endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process sphingolipid metabolic process sphingomyelin biosynthetic process biosynthetic process membrane integral component of membrane transferase activity transferase activity, transferring acyl groups serine C-palmitoyltransferase complex sphingolipid biosynthetic process pyridoxal phosphate binding SPOTS complex sphinganine biosynthetic process sphingosine biosynthetic process ceramide biosynthetic process positive regulation of lipophagy regulation of fat cell apoptotic process uc007qnk.1 uc007qnk.2 uc007qnk.3 uc007qnk.4 
ENSMUST00000021921.11 Ptch1 ENSMUST00000021921.11 patched 1, transcript variant 1 (from RefSeq NM_008957.3) ENSMUST00000021921.1 ENSMUST00000021921.10 ENSMUST00000021921.2 ENSMUST00000021921.3 ENSMUST00000021921.4 ENSMUST00000021921.5 ENSMUST00000021921.6 ENSMUST00000021921.7 ENSMUST00000021921.8 ENSMUST00000021921.9 NM_008957 PTC1_MOUSE Ptch Q61115 uc007qxv.1 uc007qxv.2 uc007qxv.3 Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis. Interacts with SNX17 (By similarity). Interacts with IHH (PubMed:21537345). Interacts with G-protein coupled receptor GPR37L1 (PubMed:24062445). Q61115; Q96EY1: DNAJA3; Xeno; NbExp=2; IntAct=EBI-15619523, EBI-356767; Cell membrane ; Multi-pass membrane protein Detected in cerebellar Bergmann glia cells (at protein level) (PubMed:24062445). In the developing embryo, first detected within the ventral neural tube and later in the somites and limb buds (PubMed:8595881). Expression in the limb buds is restricted to the posterior ectoderm surrounding the zone of polarizing activity (PubMed:8595881). In the adult, expression is seen in brain, lung, liver, kidney and ocular tissues; lower levels in heart, skeletal muscle, and testis (PubMed:8595881). Expressed at very low levels at 7 dpc, is most strongly expressed between 11 and 15 dpc, and persists at moderate levels at 17 dpc (PubMed:8595881). Also expressed in the adult (PubMed:8595881). Activated by Sonic hedgehog. Glycosylation is necessary for SHH binding. In the absence of Hh ligands, ubiquitination by ITCH at Lys-1413 promotes endocytosis and both proteasomal and lysosomal degradation. Belongs to the patched family. negative regulation of transcription from RNA polymerase II promoter branching involved in ureteric bud morphogenesis in utero embryonic development cell fate determination neural tube formation neural tube closure heart morphogenesis patched binding smoothened binding protein binding extracellular region nucleus Golgi apparatus plasma membrane integral component of plasma membrane caveola cilium signal transduction smoothened signaling pathway regulation of mitotic cell cycle pattern specification process brain development hedgehog receptor activity heparin binding zinc ion binding negative regulation of cell proliferation epidermis development response to mechanical stimulus animal organ morphogenesis dorsal/ventral pattern formation epidermal cell fate specification response to chlorate positive regulation of cholesterol efflux postsynaptic density response to organic cyclic compound cholesterol binding membrane integral component of membrane protein processing spinal cord motor neuron differentiation neural tube patterning dorsal/ventral neural tube patterning neural plate axis specification embryonic limb morphogenesis cyclin binding midbody prostate gland development mammary gland development response to estradiol response to retinoic acid regulation of protein localization limb morphogenesis hindlimb morphogenesis regulation of growth negative regulation of multicellular organism growth regulation of cell proliferation response to drug glucose homeostasis intracellular membrane-bounded organelle negative regulation of sequence-specific DNA binding transcription factor activity keratinocyte proliferation dendritic growth cone axonal growth cone macromolecular complex binding positive regulation of epidermal cell differentiation negative regulation of osteoblast differentiation negative regulation of smoothened signaling pathway negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated perinuclear region of cytoplasm embryonic organ development negative regulation of epithelial cell proliferation negative regulation of cell division pharyngeal system development mammary gland duct morphogenesis mammary gland epithelial cell differentiation smoothened signaling pathway involved in dorsal/ventral neural tube patterning cell differentiation involved in kidney development somite development cellular response to cholesterol commissural neuron axon guidance renal system development cell proliferation involved in metanephros development protein localization to plasma membrane hedgehog family protein binding liver regeneration uc007qxv.1 uc007qxv.2 uc007qxv.3 
ENSMUST00000021922.10 Msx2 ENSMUST00000021922.10 msh homeobox 2 (from RefSeq NM_013601.2) ENSMUST00000021922.1 ENSMUST00000021922.2 ENSMUST00000021922.3 ENSMUST00000021922.4 ENSMUST00000021922.5 ENSMUST00000021922.6 ENSMUST00000021922.7 ENSMUST00000021922.8 ENSMUST00000021922.9 Msx2 NM_013601 Q3UZH5 Q3UZH5_MOUSE uc007qnw.1 uc007qnw.2 uc007qnw.3 Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter. Nucleus Belongs to the Msh homeobox family. negative regulation of transcription from RNA polymerase II promoter DNA binding nucleus cytosol regulation of transcription, DNA-templated nuclear speck sequence-specific DNA binding uc007qnw.1 uc007qnw.2 uc007qnw.3 
ENSMUST00000021929.10 Habp4 ENSMUST00000021929.10 hyaluronic acid binding protein 4 (from RefSeq NM_019986.3) E9QKB2 E9QKB2_MOUSE ENSMUST00000021929.1 ENSMUST00000021929.2 ENSMUST00000021929.3 ENSMUST00000021929.4 ENSMUST00000021929.5 ENSMUST00000021929.6 ENSMUST00000021929.7 ENSMUST00000021929.8 ENSMUST00000021929.9 Habp4 NM_019986 uc011zaz.1 uc011zaz.2 uc011zaz.3 Cytoplasm, Stress granule Nucleus speckle Nucleus, Cajal body Nucleus, nucleolus Belongs to the SERBP1-HABP4 family. RNA binding nucleus nucleolus cytoplasm cytoplasmic stress granule Cajal body nuclear speck sarcomere PML body organization SUMO binding positive regulation of RNA splicing negative regulation of DNA binding positive regulation of translational initiation cellular response to mechanical stimulus Gemini of coiled bodies uc011zaz.1 uc011zaz.2 uc011zaz.3 
ENSMUST00000021930.10 Sfxn1 ENSMUST00000021930.10 sideroflexin 1 (from RefSeq NM_027324.5) ENSMUST00000021930.1 ENSMUST00000021930.2 ENSMUST00000021930.3 ENSMUST00000021930.4 ENSMUST00000021930.5 ENSMUST00000021930.6 ENSMUST00000021930.7 ENSMUST00000021930.8 ENSMUST00000021930.9 NM_027324 Q3UB44 Q99JR1 Q9CZG4 SFXN1_MOUSE Sfxn1 uc007qoa.1 uc007qoa.2 uc007qoa.3 uc007qoa.4 uc007qoa.5 Amino acid transporter importing serine, an essential substrate of the mitochondrial branch of the one-carbon pathway, into mitochondria. Mitochondrial serine is then converted to glycine and formate, which exits to the cytosol where it is used to generate the charged folates that serve as one-carbon donors. May also transport other amino acids including alanine and cysteine. Reaction=L-serine(in) = L-serine(out); Xref=Rhea:RHEA:35031, ChEBI:CHEBI:33384; Evidence=; Reaction=L-alanine(in) = L-alanine(out); Xref=Rhea:RHEA:70719, ChEBI:CHEBI:57972; Evidence=; Reaction=L-cysteine(in) = L-cysteine(out); Xref=Rhea:RHEA:29655, ChEBI:CHEBI:35235; Evidence=; Mitochondrion inner membrane ; Multi-pass membrane protein Widely expressed, with highest expression in kidney and liver. Very high levels in the liver during the period of embryonic hepatic hemopoiesis. Defects in Sfxn1 are the cause of a transitory hypochromic, microcytic anemia characterized by a large number of siderocytes containing non-heme iron granules (PubMed:11274051). The anemia begins at 12 dpc, is most intense at 15 dpc and is still severe at birth, but disappears by 2 weeks of age (PubMed:11274051). Mutant adults are no longer anemic, but they have an impaired response to hemopoietic stress (PubMed:11274051). Most homozygotes also have flexed tails and a belly spot (PubMed:11274051). Belongs to the sideroflexin family. Sequence=AK012650; Type=Frameshift; Evidence=; mitochondrion mitochondrial inner membrane one-carbon metabolic process ion transport iron ion transport amino acid transport ion transmembrane transporter activity L-serine transmembrane transporter activity L-serine transport membrane integral component of membrane erythrocyte differentiation integral component of mitochondrial inner membrane D-serine transport D-serine transmembrane transporter activity transmembrane transport uc007qoa.1 uc007qoa.2 uc007qoa.3 uc007qoa.4 uc007qoa.5 
ENSMUST00000021932.6 Drd1 ENSMUST00000021932.6 dopamine receptor D1, transcript variant 1 (from RefSeq NM_010076.3) B2RPW8 DRD1_MOUSE Drd1a ENSMUST00000021932.1 ENSMUST00000021932.2 ENSMUST00000021932.3 ENSMUST00000021932.4 ENSMUST00000021932.5 Gpcr15 NM_010076 Q61616 Q8C8P8 uc033glr.1 uc033glr.2 uc033glr.3 Dopamine receptor whose activity is mediated by G proteins which activate adenylyl cyclase. Interacts with DNAJC14 via its C-terminus (By similarity). Interacts with DRD2 (PubMed:25865831). Cell membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein Cell projection, cilium membrane ; Multi-pass membrane protein Cell projection, dendrite Cell projection, dendritic spine Note=Transport from the endoplasmic reticulum to the cell surface is regulated by interaction with DNAJC14. Belongs to the G-protein coupled receptor 1 family. dopamine neurotransmitter receptor activity, coupled via Gs temperature homeostasis conditioned taste aversion behavioral fear response regulation of protein phosphorylation positive regulation of protein phosphorylation synaptic transmission, dopaminergic G-protein alpha-subunit binding response to amphetamine G-protein coupled receptor activity adrenergic receptor activity dopamine neurotransmitter receptor activity receptor binding protein binding nucleus endoplasmic reticulum endoplasmic reticulum membrane plasma membrane integral component of plasma membrane caveola cilium negative regulation of protein kinase activity protein import into nucleus intracellular protein transport muscle contraction signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger adenylate cyclase-modulating G-protein coupled receptor signaling pathway adenylate cyclase-activating G-protein coupled receptor signaling pathway activation of adenylate cyclase activity adenylate cyclase-activating dopamine receptor signaling pathway dopamine receptor signaling pathway learning memory mating behavior grooming behavior locomotory behavior adult walking behavior feeding behavior drug binding associative learning visual learning positive regulation of gene expression endomembrane system astrocyte development dopamine transport membrane integral component of membrane transmission of nerve impulse neuronal action potential regulation of vasoconstriction calcium-mediated signaling protein phosphatase binding dentate gyrus development striatum development hippocampus development cerebral cortex GABAergic interneuron migration positive regulation of cell migration negative regulation of cell migration axon dendrite peristalsis angiotensin receptor binding D3 dopamine receptor binding operant conditioning social behavior dopamine binding regulation of dopamine metabolic process response to cocaine vasodilation negative regulation of circadian sleep/wake cycle, sleep response to drug maternal behavior eating behavior cell projection neuronal cell body dendritic spine dendritic shaft regulation of ion transport axon terminus histone H3-S10 phosphorylation dendritic spine neck dendritic spine head macromolecular complex binding positive regulation of membrane potential glucose import habituation sensitization protein heterodimerization activity behavioral response to cocaine regulation of long-term neuronal synaptic plasticity ATPase binding positive regulation of release of sequestered calcium ion into cytosol positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway positive regulation of synaptic transmission, glutamatergic phospholipase C-activating dopamine receptor signaling pathway ciliary membrane long-term synaptic potentiation long term synaptic depression negative regulation of cell death cellular response to catecholamine stimulus adenylate cyclase-activating adrenergic receptor signaling pathway non-motile cilium glutamatergic synapse GABA-ergic synapse modification of postsynaptic structure integral component of postsynaptic membrane integral component of presynaptic membrane positive regulation of long-term synaptic potentiation cellular response to dopamine positive regulation of feeding behavior regulation of synaptic vesicle exocytosis startle response prepulse inhibition uc033glr.1 uc033glr.2 uc033glr.3 
ENSMUST00000021937.12 Zfp346 ENSMUST00000021937.12 zinc finger protein 346, transcript variant 1 (from RefSeq NM_012017.2) ENSMUST00000021937.1 ENSMUST00000021937.10 ENSMUST00000021937.11 ENSMUST00000021937.2 ENSMUST00000021937.3 ENSMUST00000021937.4 ENSMUST00000021937.5 ENSMUST00000021937.6 ENSMUST00000021937.7 ENSMUST00000021937.8 ENSMUST00000021937.9 Jaz NM_012017 Q9R0B7 ZN346_MOUSE Znf346 uc007qpy.1 uc007qpy.2 uc007qpy.3 Binds with low affinity to dsDNA and ssRNA, and with high affinity to dsRNA, with no detectable sequence specificity (By similarity) (PubMed:10488071). May bind to specific miRNA hairpins (By similarity). Forms a heteromeric complex with XPO5 and ILF3. Found in a nuclear export complex with XPO5, RAN, ILF3, ZNF346 and double-stranded RNA. Interacts with XPO5. Interacts with ILF3 in an RNA-independent manner (By similarity). Nucleus, nucleolus Cytoplasm Note=Nuclear at steady state, primarily in the nucleolus. Shuttles between the nucleus and cytoplasm when associated with XPO5 (By similarity). Expressed in all tissues tested, including heart, brain, spleen, lung, liver, muscle, kidney and testis. Exogenous expression induced apoptosis. The zinc-finger domains are required for binding to dsRNA, and also for nuclear localization. nucleic acid binding RNA binding double-stranded RNA binding protein binding nucleus nucleolus cytoplasm zinc ion binding enzyme binding miRNA binding positive regulation of apoptotic process metal ion binding uc007qpy.1 uc007qpy.2 uc007qpy.3 
ENSMUST00000021939.8 Cdk20 ENSMUST00000021939.8 cyclin dependent kinase 20 (from RefSeq NM_053180.2) CDK20_MOUSE Ccrk Cdch ENSMUST00000021939.1 ENSMUST00000021939.2 ENSMUST00000021939.3 ENSMUST00000021939.4 ENSMUST00000021939.5 ENSMUST00000021939.6 ENSMUST00000021939.7 NM_053180 Q5EDC2 Q9JHU3 uc007qyx.1 uc007qyx.2 uc007qyx.3 Involved in cell growth. Activates CDK2, a kinase involved in the control of the cell cycle, by phosphorylating residue 'Thr-160' (By similarity). Required for high-level Shh responses in the developing neural tube. Together with TBC1D32, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to SHH signaling. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.22; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.22; Monomer (By similarity). Interacts with MAK (By similarity). Interacts with TBC1D32. Nucleus Cytoplasm Cell projection, cilium Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9JHU3-1; Sequence=Displayed; Name=2; Synonyms=Cardiac CCRK; IsoId=Q9JHU3-2; Sequence=VSP_016753, VSP_016754; Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. nucleotide binding protein kinase activity protein serine/threonine kinase activity cyclin-dependent protein serine/threonine kinase activity protein binding ATP binding nucleus nucleoplasm cytoplasm cilium protein phosphorylation cell cycle multicellular organism development kinase activity phosphorylation transferase activity cell projection cell division regulation of cell cycle uc007qyx.1 uc007qyx.2 uc007qyx.3 
ENSMUST00000021940.8 Lman2 ENSMUST00000021940.8 lectin, mannose-binding 2 (from RefSeq NM_025828.3) ENSMUST00000021940.1 ENSMUST00000021940.2 ENSMUST00000021940.3 ENSMUST00000021940.4 ENSMUST00000021940.5 ENSMUST00000021940.6 ENSMUST00000021940.7 LMAN2_MOUSE NM_025828 Q8BJL4 Q9CXG7 Q9DBH5 uc007qqo.1 uc007qqo.2 Plays a role as an intracellular lectin in the early secretory pathway. Interacts with N-acetyl-D-galactosamine and high- mannose type glycans and may also bind to O-linked glycans. Involved in the transport and sorting of glycoproteins carrying high mannose-type glycans (By similarity). Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Note=Binds 2 calcium ions per subunit. ; Golgi apparatus membrane ; Single- pass type I membrane protein Golgi membrane mannose binding extracellular space endoplasmic reticulum membrane endoplasmic reticulum-Golgi intermediate compartment Golgi apparatus integral component of plasma membrane ER to Golgi vesicle-mediated transport retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum organization Golgi organization cell surface protein transport membrane integral component of membrane ER to Golgi transport vesicle carbohydrate binding heat shock protein binding metal ion binding positive regulation of phagocytosis uc007qqo.1 uc007qqo.2 
ENSMUST00000021941.8 Mxd3 ENSMUST00000021941.8 Max dimerization protein 3 (from RefSeq NM_016662.5) ENSMUST00000021941.1 ENSMUST00000021941.2 ENSMUST00000021941.3 ENSMUST00000021941.4 ENSMUST00000021941.5 ENSMUST00000021941.6 ENSMUST00000021941.7 MAD3_MOUSE Mad3 NM_016662 Q60947 Q80US8 uc007qqn.1 uc007qqn.2 uc007qqn.3 Transcriptional repressor. Binds with MAX to form a sequence- specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. Antagonizes MYC transcriptional activity by competing for MAX and suppresses MYC dependent cell transformation. Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with MAX. Interacts with SIN3A AND SIN3B. Interacts with RNF17. Nucleus Expressed only in the proliferating areas of the testis and thymus. Expressed during neural and epidermal differentiation. Expression restricted to proliferating cells prior to differentiation. Specifically expressed in the S phase of the cell cycle in neuronal progenitor cells. In the developing embryo, detected from 9.5 to 12.5 dpc especially in the ventricular zone of the neuroepithelia, in the progression zone of the limb buds and in the aortic arches and liver. In the spinal cord at embryonic days 10.5, 11.5 and 12.5 dpc, expressed in the cells at the perimeter of the ventricular zone. In the developing epidermis, expressed only in the uppermost differentiated cell layers underneath the stratum corneum. Mice deficient for Mxd3 show increased sensitivity of neuronal and lymphoid cells to gamma-radiation induced apoptosis. negative regulation of transcription from RNA polymerase II promoter DNA binding protein binding nucleus negative regulation of transcription, DNA-templated protein dimerization activity RNA polymerase II transcription factor complex RNA polymerase II regulatory region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding uc007qqn.1 uc007qqn.2 uc007qqn.3 
ENSMUST00000021942.8 Prelid1 ENSMUST00000021942.8 PRELI domain containing 1 (from RefSeq NM_025596.5) ENSMUST00000021942.1 ENSMUST00000021942.2 ENSMUST00000021942.3 ENSMUST00000021942.4 ENSMUST00000021942.5 ENSMUST00000021942.6 ENSMUST00000021942.7 NM_025596 PRLD1_MOUSE Preli Q3UCN0 Q4QQJ9 Q6PCZ5 Q78IE2 Q8R107 Q9D1F7 uc007qql.1 uc007qql.2 uc007qql.3 Involved in the modulation of the mitochondrial apoptotic pathway by ensuring the accumulation of cardiolipin (CL) in mitochondrial membranes. In vitro, the TRIAP1:PRELID1 complex mediates the transfer of phosphatidic acid (PA) between liposomes and probably functions as a PA transporter across the mitochondrion intermembrane space to provide PA for CL synthesis in the inner membrane. Regulates the mitochondrial apoptotic pathway in primary Th cells. Regulates Th cell differentiation by down-regulating STAT6 thereby reducing IL-4- induced Th2 cell number. May be important for the development of vital and immunocompetent organs (By similarity). Reaction=a 1,2-diacyl-sn-glycero-3-phosphate(in) = a 1,2-diacyl-sn- glycero-3-phosphate(out); Xref=Rhea:RHEA:36435, ChEBI:CHEBI:58608; Evidence=; Forms a complex with TRIAP1 in the mitochondrion intermembrane space. Interacts with OPA1 and AIFM1 (By similarity). Mitochondrion Mitochondrion intermembrane space Abundantly expressed in all tissues tested except testis with highest levels in thymus. nucleoplasm mitochondrion mitochondrial intermembrane space lipid transport apoptotic process negative regulation of mitochondrial membrane potential positive regulation of endopeptidase activity phospholipid transport macromolecular complex negative regulation of apoptotic process regulation of T cell differentiation regulation of mitochondrial membrane potential positive regulation of T cell apoptotic process negative regulation of release of cytochrome c from mitochondria regulation of membrane lipid distribution positive regulation of cellular respiration phosphatidic acid transporter activity positive regulation of phospholipid transport uc007qql.1 uc007qql.2 uc007qql.3 
ENSMUST00000021948.15 F12 ENSMUST00000021948.15 coagulation factor XII (Hageman factor) (from RefSeq NM_021489.3) ENSMUST00000021948.1 ENSMUST00000021948.10 ENSMUST00000021948.11 ENSMUST00000021948.12 ENSMUST00000021948.13 ENSMUST00000021948.14 ENSMUST00000021948.2 ENSMUST00000021948.3 ENSMUST00000021948.4 ENSMUST00000021948.5 ENSMUST00000021948.6 ENSMUST00000021948.7 ENSMUST00000021948.8 ENSMUST00000021948.9 FA12_MOUSE NM_021489 O35727 Q6PER0 Q80YC5 uc007qqv.1 uc007qqv.2 uc007qqv.3 uc007qqv.4 uc007qqv.5 This gene encodes a glycoprotein coagulation factor that plays an important role in the intrinsic pathway of blood coagulation and hemostasis. The encoded protein is an inactive zymogen that is autoactivated upon contact with negatively charged surfaces or misfolded protein aggregates. Mice lacking the encoded protein have a severe defect in forming stable fibrin clots. [provided by RefSeq, Apr 2015]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC037085.1, BC057921.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164135, SAMN01164143 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa activates factor XI to factor XIa (By similarity). Reaction=Selective cleavage of Arg-|-Ile bonds in factor VII to form factor VIIa and factor XI to form factor XIa.; EC=3.4.21.38; Interacts with HRG; the interaction, which is enhanced in the presence of zinc ions and inhibited by heparin-binding, inhibits factor XII autoactivation and contact-initiated coagulation. Secreted O- and N-glycosylated. Belongs to the peptidase S1 family. Sequence=AAH49867.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; plasma kallikrein-kinin cascade Factor XII activation serine-type endopeptidase activity calcium ion binding extracellular region extracellular space rough endoplasmic reticulum proteolysis blood coagulation hemostasis peptidase activity serine-type peptidase activity positive regulation of plasminogen activation protein processing protein autoprocessing hydrolase activity positive regulation of blood coagulation zymogen activation fibrinolysis response to misfolded protein positive regulation of fibrinolysis uc007qqv.1 uc007qqv.2 uc007qqv.3 uc007qqv.4 uc007qqv.5 
ENSMUST00000021956.9 Ddx41 ENSMUST00000021956.9 DEAD box helicase 41 (from RefSeq NM_134059.2) DDX41_MOUSE ENSMUST00000021956.1 ENSMUST00000021956.2 ENSMUST00000021956.3 ENSMUST00000021956.4 ENSMUST00000021956.5 ENSMUST00000021956.6 ENSMUST00000021956.7 ENSMUST00000021956.8 NM_134059 Q3U0E0 Q91VN6 uc007qro.1 uc007qro.2 uc007qro.3 Probable ATP-dependent RNA helicase. Is required during post- transcriptional gene expression. May be involved in pre-mRNA splicing. Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Identified in the spliceosome C complex (By similarity). Interacts with ERCC6 (By similarity). Interacts with FAM50A (By similarity). Q91VN6; Q3TBT3: Sting1; NbExp=4; IntAct=EBI-2551902, EBI-3862093; Q91VN6; Q62191: Trim21; NbExp=6; IntAct=EBI-2551902, EBI-6840982; Nucleus Belongs to the DEAD box helicase family. DDX41 subfamily. nucleotide binding mRNA splicing, via spliceosome nucleic acid binding DNA binding RNA binding RNA helicase activity helicase activity protein binding ATP binding nucleus spliceosomal complex endoplasmic reticulum mRNA processing cell proliferation RNA splicing hydrolase activity cell differentiation cellular response to interferon-beta positive regulation of transcription from RNA polymerase II promoter metal ion binding defense response to virus catalytic step 2 spliceosome uc007qro.1 uc007qro.2 uc007qro.3 
ENSMUST00000021957.8 Fam193b ENSMUST00000021957.8 family with sequence similarity 193, member B, transcript variant 1 (from RefSeq NM_145382.5) ENSMUST00000021957.1 ENSMUST00000021957.2 ENSMUST00000021957.3 ENSMUST00000021957.4 ENSMUST00000021957.5 ENSMUST00000021957.6 ENSMUST00000021957.7 F193B_MOUSE Kiaa1931 NM_145382 Q3U2K0 Q69Z63 Q8K1B4 Q8VCA1 uc011yzv.1 uc011yzv.2 Cytoplasm Nucleus Note=Partly colocalized with an endoplasmic reticulum marker, HSP90B1. Shuttles between nucleus and cytoplasm (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q3U2K0-1; Sequence=Displayed; Name=2; IsoId=Q3U2K0-2; Sequence=VSP_034782; Name=3; IsoId=Q3U2K0-3; Sequence=VSP_034781; Belongs to the FAM193 family. Sequence=AAH25483.2; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; Sequence=BAD32581.1; Type=Erroneous initiation; Evidence=; molecular_function nucleus nucleoplasm cytoplasm biological_process uc011yzv.1 uc011yzv.2 
ENSMUST00000021959.11 Txndc15 ENSMUST00000021959.11 thioredoxin domain containing 15 (from RefSeq NM_175150.3) ENSMUST00000021959.1 ENSMUST00000021959.10 ENSMUST00000021959.2 ENSMUST00000021959.3 ENSMUST00000021959.4 ENSMUST00000021959.5 ENSMUST00000021959.6 ENSMUST00000021959.7 ENSMUST00000021959.8 ENSMUST00000021959.9 NM_175150 Q52KM6 Q6P6J9 Q8BV80 Q8K319 TXD15_MOUSE uc007qry.1 uc007qry.2 uc007qry.3 uc007qry.4 Acts as a positive regulator of ciliary hedgehog signaling (PubMed:29459677). Required for cilia biogenesis (PubMed:29459677). Cell projection, cilium membrane ; Single-pass type I membrane protein Sequence=BAC37669.1; Type=Erroneous initiation; Evidence=; molecular_function cellular_component cell biological_process membrane integral component of membrane cell redox homeostasis uc007qry.1 uc007qry.2 uc007qry.3 uc007qry.4 
ENSMUST00000021961.12 Catsper3 ENSMUST00000021961.12 cation channel, sperm associated 3, transcript variant 1 (from RefSeq NM_001252487.1) CTSR3_MOUSE ENSMUST00000021961.1 ENSMUST00000021961.10 ENSMUST00000021961.11 ENSMUST00000021961.2 ENSMUST00000021961.3 ENSMUST00000021961.4 ENSMUST00000021961.5 ENSMUST00000021961.6 ENSMUST00000021961.7 ENSMUST00000021961.8 ENSMUST00000021961.9 NM_001252487 Q5FWA9 Q80W99 Q9D5T9 uc007qsc.1 uc007qsc.2 uc007qsc.3 uc007qsc.4 Voltage-gated calcium channel that plays a central role in sperm cell hyperactivation. Controls calcium entry to mediate the hyperactivated motility, a step needed for sperm motility which is essential late in the preparation of sperm for fertilization. Activated by intracellular alkalinization. In contrast to the human ortholog, not activated by progesterone. Component of the CatSper complex or CatSpermasome composed of the core pore-forming members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 as well as auxiliary members CATSPERB, CATSPERG2, CATSPERD, CATSPERE, CATSPERZ, C2CD6/CATSPERT, SLCO6C1, TMEM249, TMEM262 and EFCAB9 (PubMed:34225353, PubMed:17227845, PubMed:21224844, PubMed:34998468). HSPA1 may be an additional auxiliary complex member (By similarity). The core complex members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 form a heterotetrameric channel (PubMed:34225353). The auxiliary CATSPERB, CATSPERG2, CATSPERD and CATSPERE subunits form a pavilion-like structure over the pore which stabilizes the complex through interactions with CATSPER4, CATSPER3, CATSPER1 and CATSPER2 respectively (PubMed:34225353). SLCO6C1 interacts with CATSPERE and TMEM262/CATSPERH interacts with CATSPERB, further stabilizing the complex (PubMed:34225353). C2CD6/CATSPERT interacts at least with CATSPERD and is required for targeting the CatSper complex in the flagellar membrane (PubMed:34998468). Q80W99; Q91ZR5: Catsper1; NbExp=2; IntAct=EBI-15619135, EBI-15619083; Cell projection, cilium, flagellum membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q80W99-1; Sequence=Displayed; Name=2; IsoId=Q80W99-2; Sequence=VSP_026978; Testis-specific. Detected in hte testis during postnatal development at day 15. Restricted to the late-stage germline cells that line the seminiferous tubules. Mice are normal but males are sterile. Male sterility is due to defects in sperm motility unability to fertilize intact eggs. Belongs to the cation channel sperm-associated (TC 1.A.1.19) family. Sequence=AAH89518.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence.; Evidence=; acrosomal vesicle ion channel activity voltage-gated ion channel activity voltage-gated calcium channel activity calcium channel activity protein binding endoplasmic reticulum plasma membrane cilium ion transport sodium ion transport calcium ion transport multicellular organism development spermatogenesis membrane integral component of membrane cell differentiation flagellated sperm motility motile cilium regulation of ion transmembrane transport CatSper complex cell projection sperm capacitation transmembrane transport calcium ion transmembrane transport uc007qsc.1 uc007qsc.2 uc007qsc.3 uc007qsc.4 
ENSMUST00000021963.5 Caml ENSMUST00000021963.5 calcium modulating ligand (from RefSeq NM_007596.2) CAMLG_MOUSE Caml Camlg ENSMUST00000021963.1 ENSMUST00000021963.2 ENSMUST00000021963.3 ENSMUST00000021963.4 Get2 NM_007596 P49070 Q99JU5 uc007qrv.1 uc007qrv.2 uc007qrv.3 Required for the post-translational delivery of tail-anchored (TA) proteins to the endoplasmic reticulum (By similarity). Together with GET1/WRB, acts as a membrane receptor for soluble GET3/TRC40, which recognizes and selectively binds the transmembrane domain of TA proteins in the cytosol (By similarity). Required for the stability of GET1 (By similarity). Stimulates calcium signaling in T cells through its involvement in elevation of intracellular calcium (By similarity). Essential for the survival of peripheral follicular B cells (PubMed:22351938). Component of the Golgi to ER traffic (GET) complex, which is composed of GET1/WRB, CAMLG/GET2 and GET3/TRC40 (By similarity). Within the complex, GET1 and CAMLG form a heterotetramer which is stabilized by phosphatidylinositol binding and which binds to the GET3 homodimer (By similarity). Interacts (via C-terminus) with GET1 (By similarity). Interacts (via N-terminus) with GET3 (By similarity). GET3 shows a higher affinity for CAMLG than for GET1 (By similarity). Interacts (via N-terminus) with TNFRSF13B/TACI (via C-terminus) (By similarity). P49070; E9PZQ0: Ryr1; NbExp=3; IntAct=EBI-309114, EBI-642079; Endoplasmic reticulum membrane ; Multi-pass membrane protein Conditional knockout in B cells results in significant reduction in the number of mature follicular B cells with normal cellular proliferation but increased cellular turnover. receptor recycling protein binding cytoplasm endoplasmic reticulum epidermal growth factor receptor signaling pathway membrane integral component of membrane negative regulation of protein ubiquitination ubiquitin protein ligase binding negative regulation of proteasomal ubiquitin-dependent protein catabolic process protein stabilization cell adhesion molecule binding uc007qrv.1 uc007qrv.2 uc007qrv.3 
ENSMUST00000021968.7 Pitx1 ENSMUST00000021968.7 paired-like homeodomain transcription factor 1 (from RefSeq NM_011097.2) ENSMUST00000021968.1 ENSMUST00000021968.2 ENSMUST00000021968.3 ENSMUST00000021968.4 ENSMUST00000021968.5 ENSMUST00000021968.6 NM_011097 Pitx1 Q3UQH0 Q3UQH0_MOUSE uc007qsd.1 uc007qsd.2 uc007qsd.3 Nucleus Belongs to the paired homeobox family. Bicoid subfamily. RNA polymerase II transcription factor binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus nucleolus regulation of transcription, DNA-templated multicellular organism development sequence-specific DNA binding uc007qsd.1 uc007qsd.2 uc007qsd.3 
ENSMUST00000021970.11 Cxcl14 ENSMUST00000021970.11 C-X-C motif chemokine ligand 14 (from RefSeq NM_019568.2) Bmac CXL14_MOUSE ENSMUST00000021970.1 ENSMUST00000021970.10 ENSMUST00000021970.2 ENSMUST00000021970.3 ENSMUST00000021970.4 ENSMUST00000021970.5 ENSMUST00000021970.6 ENSMUST00000021970.7 ENSMUST00000021970.8 ENSMUST00000021970.9 Kec Ks1 Mip2g NM_019568 Q548T5 Q91V02 Q9JHH7 Q9WUQ5 Scyb14 uc007qsm.1 uc007qsm.2 uc007qsm.3 Chemotactic for CESS B-cells and THP-1 monocytes, but not T- cells. Secreted Highly expressed in brain, lung, ovary, muscle and in kidney and liver parenchyma, and at lower levels in bone marrow. The destruction box (D-box) acts as a recognition signal for degradation via the ubiquitin-proteasome pathway. Ubiquitinated, followed by degradation by the proteasome. Belongs to the intercrine alpha (chemokine CxC) family. cytokine activity extracellular region extracellular space Golgi apparatus immune response signal transduction chemokine activity killing of cells of other organism negative regulation of myoblast differentiation inner ear development cell chemotaxis positive regulation of natural killer cell chemotaxis uc007qsm.1 uc007qsm.2 uc007qsm.3 
ENSMUST00000021971.6 Slc25a48 ENSMUST00000021971.6 solute carrier family 25, member 48 (from RefSeq NM_177809.4) ENSMUST00000021971.1 ENSMUST00000021971.2 ENSMUST00000021971.3 ENSMUST00000021971.4 ENSMUST00000021971.5 NM_177809 Q3KNJ4 Q8BW66 S2548_MOUSE uc007qsn.1 uc007qsn.2 uc007qsn.3 uc007qsn.4 Mitochondrion inner membrane ; Multi-pass membrane protein Belongs to the mitochondrial carrier (TC 2.A.29) family. mitochondrion mitochondrial inner membrane acyl carnitine transport acyl carnitine transmembrane transporter activity membrane integral component of membrane acyl carnitine transmembrane transport uc007qsn.1 uc007qsn.2 uc007qsn.3 uc007qsn.4 
ENSMUST00000021990.4 Ptdss1 ENSMUST00000021990.4 phosphatidylserine synthase 1 (from RefSeq NM_008959.3) ENSMUST00000021990.1 ENSMUST00000021990.2 ENSMUST00000021990.3 NM_008959 O55024 PTSS1_MOUSE Pssa Q3UV14 Q8C2S8 Q99LH2 uc007qzz.1 uc007qzz.2 Catalyzes a base-exchange reaction in which the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced by L-serine (PubMed:10432300, PubMed:9516423, PubMed:18343815, PubMed:10938271). Catalyzes mainly the conversion of phosphatidylcholine (PubMed:9516423, PubMed:18343815, PubMed:10432300, PubMed:10938271). Also converts, in vitro and to a lesser extent, phosphatidylethanolamine (PubMed:10432300, PubMed:9516423, PubMed:18343815, PubMed:10938271). Reaction=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + L-serine = a 1,2-diacyl-sn-glycero-3-phospho-L-serine + ethanolamine; Xref=Rhea:RHEA:27606, ChEBI:CHEBI:33384, ChEBI:CHEBI:57262, ChEBI:CHEBI:57603, ChEBI:CHEBI:64612; EC=2.7.8.29; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:27607; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine + L-serine = a 1,2- diacyl-sn-glycero-3-phospho-L-serine + choline; Xref=Rhea:RHEA:45088, ChEBI:CHEBI:15354, ChEBI:CHEBI:33384, ChEBI:CHEBI:57262, ChEBI:CHEBI:57643; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:45089; Evidence=; Potently inhibited by choline in the mitochondria- associated membrane (MAM). Very little inhibition by choline in the endoplasmic reticulum (ER) per se. Phospholipid metabolism; phosphatidylserine biosynthesis. Endoplasmic reticulum membrane ; Multi-pass membrane protein Note=Highly enriched in the mitochondria-associated membrane (MAM). Expressed in kidney, testis, lung, skeletal muscle, liver brain, heart and spleen with highest expression in testis, liver, heart and brain. Null mice are viable, fertile and have a normal life span. Toal serine exchange is reduced up to 85%, but apart from in liver, the phosphatatidylserine content was unaltered. Elimination of either Pss1 or Pss2, but not both, is compatible with mouse viability. Mice can tolerate as little as 10% serine-exchange activity and are viable with small amounts of phosphatidylserine and phosphatidylethanolamine content. to phosphatidylethanolamine. Belongs to the phosphatidyl serine synthase family. endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process phosphatidylserine biosynthetic process phospholipid biosynthetic process membrane integral component of membrane transferase activity uc007qzz.1 uc007qzz.2 
ENSMUST00000021991.11 Mterf3 ENSMUST00000021991.11 mitochondrial transcription termination factor 3 (from RefSeq NM_025547.4) CGI-12 ENSMUST00000021991.1 ENSMUST00000021991.10 ENSMUST00000021991.2 ENSMUST00000021991.3 ENSMUST00000021991.4 ENSMUST00000021991.5 ENSMUST00000021991.6 ENSMUST00000021991.7 ENSMUST00000021991.8 ENSMUST00000021991.9 MTEF3_MOUSE Mterfd1 NM_025547 Q8R3J4 Q9CSV1 Q9CWM7 uc007qzw.1 uc007qzw.2 uc007qzw.3 uc007qzw.4 uc007qzw.5 Binds promoter DNA and regulates initiation of transcription (By similarity). Required for normal mitochondrial transcription and translation, and for normal assembly of mitochondrial respiratory complexes (PubMed:17662942, PubMed:23300484). Required for normal mitochondrial function (PubMed:17662942, PubMed:23300484). Maintains 16S rRNA levels and functions in mitochondrial ribosome assembly by regulating the biogenesis of the 39S ribosomal subunit (PubMed:17662942, PubMed:23300484). Mitochondrion Contains seven structural repeats of about 35 residues, where each repeat contains three helices. The repeats form a superhelical structure with a solenoid shape. Embryonic lethality, due to severe mitochondrial dysfunction. Embryos are much smaller than normal and none survive past 10.5 dpc. Belongs to the mTERF family. DNA binding double-stranded DNA binding nucleoplasm mitochondrion regulation of transcription, DNA-templated transcription from mitochondrial promoter mitochondrial translation ribosome biogenesis transcription regulatory region DNA binding negative regulation of transcription, DNA-templated mitochondrial ribosome assembly uc007qzw.1 uc007qzw.2 uc007qzw.3 uc007qzw.4 uc007qzw.5 
ENSMUST00000021993.5 Uqcrb ENSMUST00000021993.5 ubiquinol-cytochrome c reductase binding protein (from RefSeq NM_026219.2) ENSMUST00000021993.1 ENSMUST00000021993.2 ENSMUST00000021993.3 ENSMUST00000021993.4 NM_026219 Q9CQB4 Q9CQB4_MOUSE Uqcrb uc007qzu.1 uc007qzu.2 uc007qzu.3 Component of the ubiquinol-cytochrome c oxidoreductase, a multisubunit transmembrane complex that is part of the mitochondrial electron transport chain which drives oxidative phosphorylation. Mitochondrion inner membrane Belongs to the UQCRB/QCR7 family. mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex III mitochondrial electron transport, ubiquinol to cytochrome c membrane oxidation-reduction process respiratory chain uc007qzu.1 uc007qzu.2 uc007qzu.3 
ENSMUST00000021997.8 Rsl1 ENSMUST00000021997.8 Nucleus (from UniProt Q7M6Y1) BC103788 ENSMUST00000021997.1 ENSMUST00000021997.2 ENSMUST00000021997.3 ENSMUST00000021997.4 ENSMUST00000021997.5 ENSMUST00000021997.6 ENSMUST00000021997.7 Q7M6Y1 Q7M6Y1_MOUSE Rsl1 uc007rai.1 uc007rai.2 uc007rai.3 uc007rai.4 Nucleus negative regulation of transcription from RNA polymerase II promoter nucleic acid binding cellular_component regulation of transcription, DNA-templated sex determination enhancer binding sequence-specific DNA binding regulation of DNA methylation negative regulation of transcription, DNA-templated metal ion binding uc007rai.1 uc007rai.2 uc007rai.3 uc007rai.4 
ENSMUST00000022007.8 Cfap90 ENSMUST00000022007.8 cilia and flagella associated protein 90 (from RefSeq NM_027035.1) CFA90_MOUSE ENSMUST00000022007.1 ENSMUST00000022007.2 ENSMUST00000022007.3 ENSMUST00000022007.4 ENSMUST00000022007.5 ENSMUST00000022007.6 ENSMUST00000022007.7 NM_027035 Q9DAR0 uc007rcd.1 uc007rcd.2 uc007rcd.3 uc007rcd.4 Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating. Cytoplasm, cytoskeleton, cilium axoneme Expressed in sperm (at protein level). On the 2D-gel the determined pI of this protein is: 7.7, its MW is: 22 kDa. molecular_function cellular_component biological_process uc007rcd.1 uc007rcd.2 uc007rcd.3 uc007rcd.4 
ENSMUST00000022009.10 Cetn3 ENSMUST00000022009.10 centrin 3 (from RefSeq NM_007684.4) Cetn3 ENSMUST00000022009.1 ENSMUST00000022009.2 ENSMUST00000022009.3 ENSMUST00000022009.4 ENSMUST00000022009.5 ENSMUST00000022009.6 ENSMUST00000022009.7 ENSMUST00000022009.8 ENSMUST00000022009.9 NM_007684 Q545L8 Q545L8_MOUSE uc007rid.1 uc007rid.2 uc007rid.3 calcium ion binding centrosome uc007rid.1 uc007rid.2 uc007rid.3 
ENSMUST00000022013.8 Adcy2 ENSMUST00000022013.8 adenylate cyclase 2 (from RefSeq NM_153534.2) Adcy2 ENSMUST00000022013.1 ENSMUST00000022013.2 ENSMUST00000022013.3 ENSMUST00000022013.4 ENSMUST00000022013.5 ENSMUST00000022013.6 ENSMUST00000022013.7 NM_153534 Q3V1Q3 Q3V1Q3_MOUSE uc007rcf.1 uc007rcf.2 Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Reaction=ATP = 3',5'-cyclic AMP + diphosphate; Xref=Rhea:RHEA:15389, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58165; EC=4.6.1.1; Evidence= Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 magnesium ions per subunit. Is also active with manganese (in vitro). ; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Membrane ; Multi- pass membrane protein Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. nucleotide binding adenylate cyclase activity ATP binding cytoplasm plasma membrane cAMP biosynthetic process cyclic nucleotide biosynthetic process membrane integral component of membrane lyase activity phosphorus-oxygen lyase activity intracellular signal transduction metal ion binding uc007rcf.1 uc007rcf.2 
ENSMUST00000022019.4 Il9 ENSMUST00000022019.4 interleukin 9 (from RefSeq NM_008373.2) ENSMUST00000022019.1 ENSMUST00000022019.2 ENSMUST00000022019.3 IL9_MOUSE NM_008373 P15247 uc007qso.1 uc007qso.2 Multifunctional cytokine secreted mainly by T-helper 2 lymphocytes and also mast cells or NKT cells that plays important roles in the immune response against parasites (PubMed:11070175, PubMed:19433802). Affects intestinal epithelial permeability and adaptive immunity (PubMed:12704113). In addition, induces the differentiation of specific T-cell subsets such as IL-17 producing helper T-cells (TH17) and also proliferation and differentiation of mast cells (PubMed:19433802, PubMed:11070175). Mechanistically, exerts its biological effects through a receptor composed of IL9R subunit and a signal transducing subunit IL2RG (PubMed:2145361, PubMed:7718508). Receptor stimulation results in the rapid activation of JAK1 and JAK3 kinase activities leading to STAT1, STAT3 and STAT5-mediated transcriptional programs (PubMed:10464327). Induction of differentiation genes seems to be mediated by STAT1 alone, while protection of cells from apoptosis depends on STAT3 and STAT5 (PubMed:10464327). Interacts with IL9R (PubMed:2145361). Interacts with IL2RG (PubMed:7718508). Secreted. Deltion mice do not show defects in T-cell development or differentiation, the generation of naive or antigen- driven antibody responses, or the expulsion of the intestinal parasitic nematode Nippostrongylus brasiliensis. However, mastocytosis is severely impaired in these animals. Belongs to the IL-7/IL-9 family. cytokine activity cytokine receptor binding interleukin-9 receptor binding extracellular region extracellular space immune response signal transduction growth factor activity positive regulation of cell growth positive regulation of interleukin-5 biosynthetic process uc007qso.1 uc007qso.2 
ENSMUST00000022023.13 Trpc7 ENSMUST00000022023.13 transient receptor potential cation channel, subfamily C, member 7, transcript variant 1 (from RefSeq NM_012035.3) ENSMUST00000022023.1 ENSMUST00000022023.10 ENSMUST00000022023.11 ENSMUST00000022023.12 ENSMUST00000022023.2 ENSMUST00000022023.3 ENSMUST00000022023.4 ENSMUST00000022023.5 ENSMUST00000022023.6 ENSMUST00000022023.7 ENSMUST00000022023.8 ENSMUST00000022023.9 NM_012035 Q9WVC5 TRPC7_MOUSE Trp7 Trrp8 uc007qtb.1 uc007qtb.2 uc007qtb.3 uc007qtb.4 The protein encoded by this gene is a member of the transient receptor potential channel family of proteins, which form six-transmembrane cation-permeable channels that are calcium permeant. Knock out mice are viable but display a reduction in the gamma wave activity that precedes seizure induction in response to a muscrarinic agonist, suggesting a functional role for this protein in initiation of seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]. Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G- protein coupled receptors. Activated by diacylglycerol (DAG). May also be activated by intracellular calcium store depletion. Interacts with MX1 and RNF24. Interacts (via ANK-repeat domains) with PRKG1. Cell membrane ; Multi-pass membrane protein Nucleus envelope Phosphorylation by PRKG1 at Thr-15 negatively regulates TRPC7 activity. Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC7 sub-subfamily. ion channel activity calcium channel activity nucleus nuclear envelope cis-Golgi network plasma membrane integral component of plasma membrane ion transport calcium ion transport manganese ion transport single fertilization store-operated calcium channel activity membrane integral component of membrane cation channel complex perinuclear region of cytoplasm regulation of cytosolic calcium ion concentration transmembrane transport calcium ion transmembrane transport inositol 1,4,5 trisphosphate binding uc007qtb.1 uc007qtb.2 uc007qtb.3 uc007qtb.4 
ENSMUST00000022028.6 1700067P10Rik ENSMUST00000022028.6 RIKEN cDNA 1700067P10 gene (from RefSeq NR_160405.1) 1700067P10Rik ENSMUST00000022028.1 ENSMUST00000022028.2 ENSMUST00000022028.3 ENSMUST00000022028.4 ENSMUST00000022028.5 G3X8U2 G3X8U2_MOUSE NR_160405 uc008cws.1 uc008cws.2 uc008cws.3 molecular_function cellular_component biological_process uc008cws.1 uc008cws.2 uc008cws.3 
ENSMUST00000022030.11 Ccnh ENSMUST00000022030.11 cyclin H, transcript variant 1 (from RefSeq NM_023243.6) CCNH_MOUSE ENSMUST00000022030.1 ENSMUST00000022030.10 ENSMUST00000022030.2 ENSMUST00000022030.3 ENSMUST00000022030.4 ENSMUST00000022030.5 ENSMUST00000022030.6 ENSMUST00000022030.7 ENSMUST00000022030.8 ENSMUST00000022030.9 NM_023243 Q61458 Q9CVJ0 Q9JHV7 uc007riu.1 uc007riu.2 uc007riu.3 Regulates CDK7, the catalytic subunit of the CDK-activating kinase (CAK) enzymatic complex. CAK activates the cyclin-associated kinases CDK1, CDK2, CDK4 and CDK6 by threonine phosphorylation. CAK complexed to the core-TFIIH basal transcription factor activates RNA polymerase II by serine phosphorylation of the repetitive C-terminal domain (CTD) of its large subunit (POLR2A), allowing its escape from the promoter and elongation of the transcripts. Involved in cell cycle control and in RNA transcription by RNA polymerase II. Its expression and activity are constant throughout the cell cycle. Associates primarily with CDK7 and MAT1 to form the CAK complex. CAK can further associate with the core-TFIIH to form the TFIIH basal transcription factor. Nucleus. Expressed in both the germinal and somatic cells of the testis. Higher expression during spermatogenesis from the mitotic stages to the meiotic stages. Belongs to the cyclin family. Cyclin C subfamily. regulation of cyclin-dependent protein serine/threonine kinase activity cyclin-dependent protein serine/threonine kinase activity nucleus nucleoplasm holo TFIIH complex transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter protein phosphorylation cell cycle kinase activity phosphorylation cyclin-dependent protein serine/threonine kinase regulator activity cyclin-dependent protein kinase activating kinase holoenzyme complex positive regulation of transcription from RNA polymerase II promoter protein stabilization TFIIK complex DNA-dependent ATPase activity RNA polymerase II carboxy-terminal domain kinase activity uc007riu.1 uc007riu.2 uc007riu.3 
ENSMUST00000022032.7 Qng1 ENSMUST00000022032.7 Q-nucleotide N-glycosylase 1 (from RefSeq NM_027335.1) 2210016F16Rik ENSMUST00000022032.1 ENSMUST00000022032.2 ENSMUST00000022032.3 ENSMUST00000022032.4 ENSMUST00000022032.5 ENSMUST00000022032.6 G3X8U3 NM_027335 QNG1 QNG1_MOUSE uc007qtr.1 uc007qtr.2 uc007qtr.3 uc007qtr.4 Catalyzes the hydrolysis of queuosine 5'-phosphate, releasing the nucleobase queuine (q). Is required for salvage of queuine from exogenous queuosine (Q) that is imported and then converted to queuosine 5'-phosphate intracellularly. Reaction=H2O + queuosine 5'-phosphate = D-ribose 5-phosphate + queuine; Xref=Rhea:RHEA:75387, ChEBI:CHEBI:15377, ChEBI:CHEBI:17433, ChEBI:CHEBI:78346, ChEBI:CHEBI:194371; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:75388; Evidence=; Highly expressed in liver. Eukaryotes lack the canonical genes for de novo biosynthesis of queuosine (Q), present in most bacteria. Therefore, this molecule must be sourced from ingested food and/or the gut microbiota, and metabolized to its corresponding nucleobase, queuine (q), before incorporation into cytoplasmic and mitochondrial tRNAs. Incorporation of q into the anticodon of some tRNAs contributes to translational efficiency and accuracy. Belongs to the QNG1 protein family. molecular_function cellular_component tRNA-guanine transglycosylation uc007qtr.1 uc007qtr.2 uc007qtr.3 uc007qtr.4 
ENSMUST00000022036.14 Slc28a3 ENSMUST00000022036.14 solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (from RefSeq NM_022317.3) Cnt3 ENSMUST00000022036.1 ENSMUST00000022036.10 ENSMUST00000022036.11 ENSMUST00000022036.12 ENSMUST00000022036.13 ENSMUST00000022036.2 ENSMUST00000022036.3 ENSMUST00000022036.4 ENSMUST00000022036.5 ENSMUST00000022036.6 ENSMUST00000022036.7 ENSMUST00000022036.8 ENSMUST00000022036.9 NM_022317 Q3UM72 Q8BWE2 Q91VD7 Q9ERH8 S28A3_MOUSE uc007qud.1 uc007qud.2 uc007qud.3 uc007qud.4 Sodium-dependent, pyrimidine- and purine-selective (PubMed:11032837). Involved in the homeostasis of endogenous nucleosides (PubMed:11032837). Exhibits the transport characteristics of the nucleoside transport system cib or N3 subtype (N3/cib) (with marked transport of both thymidine and inosine) (PubMed:11032837). Employs a 2:1 sodium/nucleoside ratio (PubMed:11032837). Also able to transport gemcitabine, 3'-azido-3'-deoxythymidine (AZT), ribavirin and 3-deazauridine (By similarity). Reaction=2 Na(+)(out) + thymidine(out) = 2 Na(+)(in) + thymidine(in); Xref=Rhea:RHEA:69899, ChEBI:CHEBI:17748, ChEBI:CHEBI:29101; Evidence=; Reaction=cytidine(out) + 2 Na(+)(out) = cytidine(in) + 2 Na(+)(in); Xref=Rhea:RHEA:69903, ChEBI:CHEBI:17562, ChEBI:CHEBI:29101; Evidence=; Reaction=2 Na(+)(out) + uridine(out) = 2 Na(+)(in) + uridine(in); Xref=Rhea:RHEA:69907, ChEBI:CHEBI:16704, ChEBI:CHEBI:29101; Evidence=; Reaction=adenosine(out) + 2 Na(+)(out) = adenosine(in) + 2 Na(+)(in); Xref=Rhea:RHEA:69911, ChEBI:CHEBI:16335, ChEBI:CHEBI:29101; Evidence=; Reaction=guanosine(out) + 2 Na(+)(out) = guanosine(in) + 2 Na(+)(in); Xref=Rhea:RHEA:69915, ChEBI:CHEBI:16750, ChEBI:CHEBI:29101; Evidence=; Reaction=inosine(out) + 2 Na(+)(out) = inosine(in) + 2 Na(+)(in); Xref=Rhea:RHEA:69919, ChEBI:CHEBI:17596, ChEBI:CHEBI:29101; Evidence=; Homotrimer. Cell membrane ; Multi-pass membrane protein Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family. retina homeostasis nucleoside transmembrane transporter activity nucleoside:sodium symporter activity integral component of plasma membrane pyrimidine- and adenine-specific:sodium symporter activity purine-specific nucleoside:sodium symporter activity pyrimidine nucleobase transport purine nucleoside transmembrane transport pyrimidine nucleoside transport membrane integral component of membrane sodium ion transmembrane transport pyrimidine-containing compound transmembrane transport nucleoside transmembrane transport purine nucleobase transmembrane transport uc007qud.1 uc007qud.2 uc007qud.3 uc007qud.4 
ENSMUST00000022038.15 Naa35 ENSMUST00000022038.15 N(alpha)-acetyltransferase 35, NatC auxiliary subunit, transcript variant 4 (from RefSeq NR_168734.1) ENSMUST00000022038.1 ENSMUST00000022038.10 ENSMUST00000022038.11 ENSMUST00000022038.12 ENSMUST00000022038.13 ENSMUST00000022038.14 ENSMUST00000022038.2 ENSMUST00000022038.3 ENSMUST00000022038.4 ENSMUST00000022038.5 ENSMUST00000022038.6 ENSMUST00000022038.7 ENSMUST00000022038.8 ENSMUST00000022038.9 Egap Mak10 NAA35_MOUSE NR_168734 Q05CD3 Q6PHQ8 Q8BYJ9 Q8K3H2 uc007quu.1 uc007quu.2 uc007quu.3 uc007quu.4 uc007quu.5 Auxillary component of the N-terminal acetyltransferase C (NatC) complex which catalyzes acetylation of N-terminal methionine residues. Involved in regulation of apoptosis and proliferation of smooth muscle cells. Component of the N-terminal acetyltransferase C (NatC) complex, which is composed of NAA35, NAA38 and NAA30. Cytoplasm Belongs to the MAK10 family. PubMed:16484612 decribes a Naa35/Egap-containing complex as evolutionary conserved NatC complex; however, the mMak3 protein investigated in this context corresponds to mammalian NAA50 and not NAA30 and its interaction with NAA35 is ambiguous. Sequence=AAH27201.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; peptide alpha-N-acetyltransferase activity protein binding cytoplasm polysome N-terminal protein amino acid acetylation N-terminal peptidyl-methionine acetylation NatC complex negative regulation of apoptotic process smooth muscle cell proliferation uc007quu.1 uc007quu.2 uc007quu.3 uc007quu.4 uc007quu.5 
ENSMUST00000022039.7 Golm1 ENSMUST00000022039.7 golgi membrane protein 1, transcript variant 2 (from RefSeq NM_001035122.2) ENSMUST00000022039.1 ENSMUST00000022039.2 ENSMUST00000022039.3 ENSMUST00000022039.4 ENSMUST00000022039.5 ENSMUST00000022039.6 G3X8U4 GOLM1_MOUSE Golph2 NM_001035122 Q91XA2 uc007qux.1 uc007qux.2 uc007qux.3 Unknown. Cellular response protein to viral infection. Interacts with DYM. Golgi apparatus, cis-Golgi network membrane ; Single-pass type II membrane protein Note=Early Golgi. Cycles via the cell surface and endosomes upon lumenal pH disruption. Up-regulated in response to viral infection. Glycosylated. Phosphorylation sites are present in the extracellular medium. Belongs to the GOLM family. It is uncertain whether Met-1 or Met-2 is the initiator. molecular_function Golgi apparatus nucleus organization membrane integral component of membrane regulation of lipid metabolic process uc007qux.1 uc007qux.2 uc007qux.3 
ENSMUST00000022040.14 Agtpbp1 ENSMUST00000022040.14 ATP/GTP binding protein 1, transcript variant 1 (from RefSeq NM_023328.3) Agtpbp1 CBPC1_MOUSE Ccp1 ENSMUST00000022040.1 ENSMUST00000022040.10 ENSMUST00000022040.11 ENSMUST00000022040.12 ENSMUST00000022040.13 ENSMUST00000022040.2 ENSMUST00000022040.3 ENSMUST00000022040.4 ENSMUST00000022040.5 ENSMUST00000022040.6 ENSMUST00000022040.7 ENSMUST00000022040.8 ENSMUST00000022040.9 NM_023328 Nna1 Q3TDS0 Q3V147 Q641K1 Q6P9R9 Q8C1K8 Q9D962 Q9EQI4 uc007qun.1 uc007qun.2 uc007qun.3 uc007qun.4 Metallocarboxypeptidase that mediates protein deglutamylation of tubulin and non-tubulin target proteins (PubMed:21074048, PubMed:22170066, PubMed:25103237, PubMed:30420557, PubMed:29593216). Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of alpha- and beta-tubulin (PubMed:22170066, PubMed:25103237, PubMed:30420557). Specifically cleaves tubulin long-side-chains, while it is not able to remove the branching point glutamate (PubMed:21074048). Also catalyzes the removal of polyglutamate residues from the carboxy-terminus of alpha-tubulin as well as non-tubulin proteins such as MYLK (PubMed:21074048, PubMed:22170066). Involved in KLF4 deglutamylation which promotes KLF4 proteasome-mediated degradation, thereby negatively regulating cell pluripotency maintenance and embryogenesis (PubMed:29593216). Reaction=(L-glutamyl)(n+1)-gamma-L-glutamyl-L-glutamyl-[protein] + H2O = (L-glutamyl)(n)-gamma-L-glutamyl-L-glutamyl-[protein] + L- glutamate; Xref=Rhea:RHEA:60004, Rhea:RHEA-COMP:15519, Rhea:RHEA- COMP:15675, ChEBI:CHEBI:15377, ChEBI:CHEBI:29985, ChEBI:CHEBI:143623; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60005; Evidence= Reaction=C-terminal L-alpha-aminoacyl-L-glutamyl-L-glutamyl-[tubulin] + H2O = C-terminal L-alpha-aminoacyl-L-glutamyl-[tubulin] + L- glutamate; Xref=Rhea:RHEA:63792, Rhea:RHEA-COMP:16435, Rhea:RHEA- COMP:16436, ChEBI:CHEBI:15377, ChEBI:CHEBI:29985, ChEBI:CHEBI:149555, ChEBI:CHEBI:149556; EC=3.4.17.24; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:63793; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Interacts with MYLK. Cytoplasm Cytoplasm, cytosol Nucleus Mitochondrion Note=Localizes in both the cytoplasm and nuclei of interphase and dividing cells. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q641K1-1; Sequence=Displayed; Name=2; IsoId=Q641K1-2; Sequence=VSP_029047, VSP_029048; Name=3; IsoId=Q641K1-3; Sequence=VSP_029045, VSP_029046; Name=4; IsoId=Q641K1-4; Sequence=VSP_038803, VSP_038805; Name=5; IsoId=Q641K1-5; Sequence=VSP_038804; Widely expressed. Highly expressed in the cerebellum and cortex of adult mouse brain. Expressed at similar levels in both the cerebellum and the cortex throughout all developmental stages. Also expressed in sciatic nerve transection, spinal motor neurons undergoing axon regeneration, testis, heart, eye, lung, pancreas, intestine, stomach, pituitary, spleen, adrenal, kidney and in developing brain. Expression in cranial motor nuclei is the same as that observed in uninjured primary motor neurons. Expression is prevalent in sensory neurons and hippocampal CA3 neurons in addition to regenerating motor neurons. Highly expressed in differentiating neurons. From 16.5 dpc, expression is widespread in brain, spinal cord, and peripheral nervous tissue. Within the developing CNS, expression is restricted to regions of brain and spinal cord containing differentiating neurons. By axonal regeneration. Note=Defects in Agtpbp1 are the cause of Purkinje cell degeneration (pcd). Pcd is a spontaneous mutation that results in adult-onset degeneration of cerebellar Purkinje neurons, retinal photoreceptors, olfactory bulb mitral neurons and selected thalamic neurons, and causes defective spermatogenesis. Pcd mice also manifest cerebellar atrophy and a peripheral nerve degeneration resulting in pure motor or motor-predominant neuropathy. Motoric femoral quadriceps nerves are characterized by reduced total calibers, a loss of myelinated axons, perturbed axon morphology, and macrophage activation. The amount of motor neurons in the ventral horns of lumbar spinal cords is reduced. These anomalies are accompanied by dysregulated tubulin polyglutamylation (PubMed:30420557). Defects in mitochondrial metabolic functions are also observed. The molecular causes of neurodegeneration are probably due to an accumulation of glutamylation, either tubulin hyperglutamylation or another hyperglutamylated target proteins. An increase of intranuclear localization of lysyl oxidase (Lox) propeptide, which interferes with NF-kappa-B Rela signaling and microtubule-associated protein regulation of microtubule stability is also observed, possibly leading to underdevelopment of Purkinje cell dendrites. Knockout pcd mice show hyperglutamylation of alpha- and beta-tubulins in the brain (PubMed:22170066). Knockout mice promote somatic cell reprogramming and higher litter size at birth (PubMed:29593216). [Isoform 3]: Apparent retained intron. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. Belongs to the peptidase M14 family. Sequence=AAG37102.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; eye photoreceptor cell differentiation carboxypeptidase activity metallocarboxypeptidase activity protein binding nucleus nucleolus cytoplasm mitochondrion cytosol proteolysis mitochondrion organization adult walking behavior peptidase activity metallopeptidase activity zinc ion binding tubulin binding hydrolase activity cerebellum development cerebellar Purkinje cell layer development cerebellar Purkinje cell differentiation olfactory bulb development protein deglutamylation C-terminal protein deglutamylation protein side chain deglutamylation neurotransmitter metabolic process intracellular membrane-bounded organelle metal ion binding neuromuscular process retina development in camera-type eye uc007qun.1 uc007qun.2 uc007qun.3 uc007qun.4 
ENSMUST00000022048.6 Slc6a19 ENSMUST00000022048.6 solute carrier family 6 (neurotransmitter transporter), member 19, transcript variant 1 (from RefSeq NM_028878.4) B0at1 ENSMUST00000022048.1 ENSMUST00000022048.2 ENSMUST00000022048.3 ENSMUST00000022048.4 ENSMUST00000022048.5 NM_028878 Q9D687 S6A19_MOUSE Xt3 uc007rdy.1 uc007rdy.2 uc007rdy.3 Transporter that mediates resorption of neutral amino acids across the apical membrane of renal and intestinal epithelial cells (PubMed:18424768, PubMed:17167413, PubMed:26240152, PubMed:19185582, PubMed:15044460). This uptake is sodium-dependent and chloride- independent (PubMed:18424768, PubMed:19185582, PubMed:15044460, PubMed:21636576, PubMed:26240152). Requires CLTRN in kidney or ACE2 in intestine for cell surface expression and amino acid transporter activity (PubMed:18424768, PubMed:17167413, PubMed:19185582, PubMed:22677001). Reaction=L-alanine(in) + Na(+)(in) = L-alanine(out) + Na(+)(out); Xref=Rhea:RHEA:29283, ChEBI:CHEBI:29101, ChEBI:CHEBI:57972; Evidence=; Reaction=L-cysteine(in) + Na(+)(in) = L-cysteine(out) + Na(+)(out); Xref=Rhea:RHEA:68232, ChEBI:CHEBI:29101, ChEBI:CHEBI:35235; Evidence=; Reaction=L-glutamine(in) + Na(+)(in) = L-glutamine(out) + Na(+)(out); Xref=Rhea:RHEA:68236, ChEBI:CHEBI:29101, ChEBI:CHEBI:58359; Evidence=; Reaction=glycine(in) + Na(+)(in) = glycine(out) + Na(+)(out); Xref=Rhea:RHEA:68228, ChEBI:CHEBI:29101, ChEBI:CHEBI:57305; Evidence=; Reaction=L-isoleucine(in) + Na(+)(in) = L-isoleucine(out) + Na(+)(out); Xref=Rhea:RHEA:29275, ChEBI:CHEBI:29101, ChEBI:CHEBI:58045; Evidence=; Reaction=L-leucine(in) + Na(+)(in) = L-leucine(out) + Na(+)(out); Xref=Rhea:RHEA:29263, ChEBI:CHEBI:29101, ChEBI:CHEBI:57427; Evidence=; Reaction=L-methionine(in) + Na(+)(in) = L-methionine(out) + Na(+)(out); Xref=Rhea:RHEA:68240, ChEBI:CHEBI:29101, ChEBI:CHEBI:57844; Evidence=; Reaction=L-phenylalanine(in) + Na(+)(in) = L-phenylalanine(out) + Na(+)(out); Xref=Rhea:RHEA:68244, ChEBI:CHEBI:29101, ChEBI:CHEBI:58095; Evidence=; Reaction=L-serine(in) + Na(+)(in) = L-serine(out) + Na(+)(out); Xref=Rhea:RHEA:29575, ChEBI:CHEBI:29101, ChEBI:CHEBI:33384; Evidence=; Reaction=L-tryptophan(in) + Na(+)(in) = L-tryptophan(out) + Na(+)(out); Xref=Rhea:RHEA:68252, ChEBI:CHEBI:29101, ChEBI:CHEBI:57912; Evidence=; Reaction=L-tyrosine(in) + Na(+)(in) = L-tyrosine(out) + Na(+)(out); Xref=Rhea:RHEA:68248, ChEBI:CHEBI:29101, ChEBI:CHEBI:58315; Evidence=; Reaction=L-valine(in) + Na(+)(in) = L-valine(out) + Na(+)(out); Xref=Rhea:RHEA:29267, ChEBI:CHEBI:29101, ChEBI:CHEBI:57762; Evidence=; Kinetic parameters: KM=630 uM for leucine ; KM=522 uM for glutamine ; KM=589 uM for phenylalanine ; KM=0.99 mM for L-isoleucine ; KM=0.78 mM for L-isoleucine (in presence of CLTRN) ; Note=Vmax for leucine is about twice the value of Vmax for glutamine, and three times the value of Vmax for phenylalanine. KM and Vmax values are complex functions of the concentration of substrate (L- amino acid) and cosubstrate (Na(+)) and the membrane potential.; Interacts in a tissue-specific manner with ACE2 in small intestine and with CLTRN in the kidney (PubMed:19185582, PubMed:17167413). Interacts with CLTRN; this interaction is required for trafficking of SLC6A19 to the plasma membrane and for its catalytic activation in kidneys (PubMed:17167413). Interacts with ACE2; this interaction is required for trafficking of SLC6A19 to the plasma membrane and for its catalytic activation in intestine (PubMed:19185582). Interacts with ANPEP; the interaction positively regulates its amino acid transporter activity (PubMed:22677001). Cell membrane ; Multi-pass membrane protein Note=Localizes in small intestine brush border membranes (at protein level). Predominantly expressed in kidney and small intestine (at protein level) (PubMed:15044460, PubMed:19185582). Expressed in the intestinal brush border (at protein level) (PubMed:22677001). Expression not observed in other organs, such as lung, skeletal muscle, brain, liver and pancreas. In kidney, expression is localized in the renal cortex but not in the medulla. Substantial amounts of expression in the proximal tubules. The distal nephron segments and the glomeruli are consistently negative. In the small intestine, expression is exclusively localized in villus enterocytes. High resolution of the hybridization-positive villi reveals a gradient of expression with the highest levels in apical cells. Not detected in crypt cells or in any other cell types of the small intestine. Deficient mice exhibit reduced growth, impaired body weight control, insulin response and amino acid absorption and excretion. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A19 subfamily. neurotransmitter:sodium symporter activity protein binding plasma membrane integral component of plasma membrane neurotransmitter transport amino acid transport response to nutrient neutral amino acid transmembrane transporter activity symporter activity neutral amino acid transport membrane integral component of membrane apical plasma membrane brush border membrane transmembrane transport uc007rdy.1 uc007rdy.2 uc007rdy.3 
ENSMUST00000022049.5 Slc6a19os ENSMUST00000022049.5 solute carrier family 6 (neurotransmitter transporter), member 19, opposite strand (from RefSeq NR_168890.1) ENSMUST00000022049.1 ENSMUST00000022049.2 ENSMUST00000022049.3 ENSMUST00000022049.4 NR_168890 uc288olv.1 uc288olv.2 uc288olv.1 uc288olv.2 
ENSMUST00000022051.14 Nkd2 ENSMUST00000022051.14 naked cuticle 2, transcript variant 1 (from RefSeq NM_028186.5) ENSMUST00000022051.1 ENSMUST00000022051.10 ENSMUST00000022051.11 ENSMUST00000022051.12 ENSMUST00000022051.13 ENSMUST00000022051.2 ENSMUST00000022051.3 ENSMUST00000022051.4 ENSMUST00000022051.5 ENSMUST00000022051.6 ENSMUST00000022051.7 ENSMUST00000022051.8 ENSMUST00000022051.9 NKD2_MOUSE NM_028186 Q3TYU5 Q3UM34 Q8C4J8 Q8VE28 Q91Y45 Q9D7U9 uc007ref.1 uc007ref.2 uc007ref.3 uc007ref.4 Cell autonomous antagonist of the canonical Wnt signaling pathway. May activate a second Wnt signaling pathway that controls planar cell polarity. Required for processing of TGFA and for targeting of TGFA to the basolateral membrane of polarized epithelial cells (By similarity). Interacts with RNF25, TGFA (via cytoplasmic domain), and PPP2R3A (By similarity). Interacts with DVL1, DVL2 and DVL3. Cell membrane Cytoplasm Cytoplasmic vesicle Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8VE28-1; Sequence=Displayed; Name=2; IsoId=Q8VE28-2; Sequence=VSP_027902; Expressed in the cecum, colon, esophagus, ileum, jejunum, skin and stomach. Expressed in the forelimb buds, the branchial arches, the caudal presomitic mesoderm (PSM) and at the anterior and posterior of each somite boundary at 9.5 days postcoitum (dpc). Also expressed in the tailbud. The N-terminal domain comprising the first 224 amino acid residues is mostly unstructured. Ubiquitinated, leading to rapid proteasomal degradation. Interaction with TGFA interferes with RNF25 binding and protects against ubiquitination mediated by RNF25 (By similarity). Belongs to the NKD family. calcium ion binding cytoplasm plasma membrane exocytosis positive regulation of protein processing membrane Wnt signaling pathway basolateral plasma membrane lateral plasma membrane growth factor binding negative regulation of Wnt signaling pathway cytoplasmic vesicle ubiquitin protein ligase binding myosin heavy chain binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process metal ion binding Golgi vesicle fusion to target membrane ATPase binding exocytic vesicle cell periphery protein localization to plasma membrane negative regulation of canonical Wnt signaling pathway positive regulation of protein localization to plasma membrane uc007ref.1 uc007ref.2 uc007ref.3 uc007ref.4 
ENSMUST00000022053.11 Trip13 ENSMUST00000022053.11 thyroid hormone receptor interactor 13, transcript variant 5 (from RefSeq NR_184787.1) A0JNT8 ENSMUST00000022053.1 ENSMUST00000022053.10 ENSMUST00000022053.2 ENSMUST00000022053.3 ENSMUST00000022053.4 ENSMUST00000022053.5 ENSMUST00000022053.6 ENSMUST00000022053.7 ENSMUST00000022053.8 ENSMUST00000022053.9 NR_184787 PCH2_MOUSE Pch2 Q05CL4 Q3UA06 Q3UQG6 Q9CWW8 uc007rei.1 uc007rei.2 uc007rei.3 Plays a key role in chromosome recombination and chromosome structure development during meiosis. Required at early steps in meiotic recombination that leads to non-crossovers pathways. Also needed for efficient completion of homologous synapsis by influencing crossover distribution along the chromosomes affecting both crossovers and non-crossovers pathways. Also required for development of higher- order chromosome structures and is needed for synaptonemal-complex formation. In males, required for efficient synapsis of the sex chromosomes and for sex body formation. Promotes early steps of the DNA double-strand breaks (DSBs) repair process upstream of the assembly of RAD51 complexes. Required for depletion of HORMAD1 and HORMAD2 from synapsed chromosomes (PubMed:17696610, PubMed:19851446, PubMed:20711356). Plays a role in mitotic spindle assembly checkpoint (SAC) activation (By similarity). Specifically interacts with the ligand binding domain of the thyroid receptor (TR). This interaction does not require the presence of thyroid hormone for its interaction (By similarity). Interacts with proteasome subunit PSMA8; to participate in meiosis progression during spermatogenesis (PubMed:31437213). Q3UA06; Q99LG4: Ttc5; NbExp=2; IntAct=EBI-308990, EBI-21183045; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q3UA06-1; Sequence=Displayed; Name=2; IsoId=Q3UA06-2; Sequence=VSP_041559; Widely expressed, including in testis. Mice develop normally without obvious somatic defects but males and females are sterile due to meiotic disruption in meiocytes. Homozygous mutants display small gonads and females have few or no follicles, due to oocyte elimination between pachynema and dictyate. Mutant testes display reduced populated tubules and spermatogenesis is mainly arrested at spermatocyte stages of epithelial stage IV, corresponding to pachynema. Different phenotypes are observed in the different knockout experiments tested. In Trip13(RRB047) mutant mice, also named Trip13(mod) allele for moderate, the number of crossovers are not affected and meiocytes undergo homologous chromosome synapsis despide the presence of unrepaired DSBs in pachynema. Using a more severe mutant allele, named Trip13(sev) for severe, additional defects are observed: the numbers of crossovers and chiasmata are reduced in the absence of TRIP13, and their distribution along the chromosomes is altered (PubMed:20711356). Autosomal bivalents in meiocytes frequently display pericentric synaptic forks and other defects (PubMed:20711356). Recombination defects are evident very early in meiotic prophase, soon after DSB formation (PubMed:20711356). These results suggest that the absence of defects in the number of crossovers observed in Trip13(RRB047) mutant is due to the use of a weak hypomorphic mutant allele. Belongs to the AAA ATPase family. PCH2 subfamily. nucleotide binding oocyte maturation male germ cell nucleus protein binding ATP binding chromosome double-strand break repair mitotic spindle assembly checkpoint synaptonemal complex assembly reciprocal meiotic recombination male meiosis I female meiosis I spermatogenesis spermatid development cell differentiation identical protein binding oogenesis meiotic cell cycle meiotic recombination checkpoint uc007rei.1 uc007rei.2 uc007rei.3 
ENSMUST00000022057.9 Tppp ENSMUST00000022057.9 tubulin polymerization promoting protein (from RefSeq NM_182839.2) ENSMUST00000022057.1 ENSMUST00000022057.2 ENSMUST00000022057.3 ENSMUST00000022057.4 ENSMUST00000022057.5 ENSMUST00000022057.6 ENSMUST00000022057.7 ENSMUST00000022057.8 NM_182839 Q7TQD2 TPPP_MOUSE Tppp uc007reo.1 uc007reo.2 uc007reo.3 Regulator of microtubule dynamics that plays a key role in myelination by promoting elongation of the myelin sheath (PubMed:31522887). Acts as a microtubule nucleation factor in oligodendrocytes: specifically localizes to the postsynaptic Golgi apparatus region, also named Golgi outpost, and promotes microtubule nucleation, an important step for elongation of the myelin sheath (PubMed:31522887). Required for both uniform polarized growth of distal microtubules as well as directing the branching of proximal processes (PubMed:31522887). Shows magnesium-dependent GTPase activity; the role of the GTPase activity is unclear (By similarity). In addition to microtubule nucleation activity, also involved in microtubule bundling and stabilization of existing microtubules, thereby maintaining the integrity of the microtubule network (PubMed:18028908). Regulates microtubule dynamics by promoting tubulin acetylation: acts by inhibiting the tubulin deacetylase activity of HDAC6 (By similarity). Also regulates cell migration: phosphorylation by ROCK1 inhibits interaction with HDAC6, resulting in decreased acetylation of tubulin and increased cell motility (By similarity). Plays a role in cell proliferation by regulating the G1/S-phase transition (By similarity). Involved in astral microtubule organization and mitotic spindle orientation during early stage of mitosis; this process is regulated by phosphorylation by LIMK2 (By similarity). Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19670; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Homodimer. Binds tubulin; binding is inhibited by GTP (By similarity). Interacts with MAPK1. Interacts with GAPDH; the interaction is direct (By similarity). Interacts with LIMK1 (via the PDZ domain); the interaction is direct. Interacts with LIMK2. Interacts with HDAC6; thereby inhibiting the tubulin deacetylase activity of HDAC6. Interacts with aggregated SNCA; may have a pro-aggregatory role in synucleinopathies. Interacts with DYNLL1 (By similarity).Interacts (via C-terminus) with S100A2, S100A6 and S100B; these interactions inhibit TPPP dimerization (By similarity). Golgi outpost Cytoplasm, cytoskeleton, microtubule organizing center Cytoplasm, cytoskeleton Nucleus Cytoplasm, cytoskeleton, spindle Note=Specifically localizes to the postsynaptic Golgi apparatus region, also named Golgi outpost, which shapes dendrite morphology by functioning as sites of acentrosomal microtubule nucleation (By similarity). Mainly localizes to the cytoskeleton (PubMed:18028908). Also found in the nucleus; however, nuclear localization is unclear and requires additional evidences (PubMed:18028908). Localizes to glial Lewy bodies in the brains of individuals with synucleinopathies. During mitosis, colocalizes with LIMK2 at the mitotic spindle (By similarity). Widely expressed with higher expression in brain (at protein level). Most of the protein is composed of disordered regions. Zinc- binding induces structural rearrangement by promoting molten globule state formation. Phosphorylated by LIMK1 on serine residues; phosphorylation may alter the tubulin polymerization activity. Phosphorylation by LIMK2, but not LIMK1, regulates astral microtubule organization at early stage of mitosis. Phosphorylation by ROCK1 at Ser-31, Ser-106 and Ser-158 inhibits interaction with HDAC6, resulting in decreased acetylation of tubulin, increased cell motility and entry into S-phase. Phosphorylation by CDK1 inhibits the microtubule polymerizing activity. Degraded by the proteasome; zinc-binding inhibits degradation by the proteasome. Mice display hypomyelination with shorter, thinner myelin sheaths and show breeding and motor coordination deficits (PubMed:31522887). Oligodendrocytes have thinner and more numerous branches in proximal processes (PubMed:31522887). Fewer microtubules are nucleated from Golgi outposts and these are no longer arranged in parallel bundles with their growing plus-ends distal, but show random polarity (PubMed:31522887). Belongs to the TPPP family. microtubule bundle formation nucleus cytoplasm mitochondrion cytosol cytoskeleton microtubule microtubule binding tubulin binding positive regulation of protein complex assembly positive regulation of protein polymerization myelin sheath microtubule polymerization perinuclear region of cytoplasm microtubule bundle uc007reo.1 uc007reo.2 uc007reo.3 
ENSMUST00000022059.14 Ahrr ENSMUST00000022059.14 aryl-hydrocarbon receptor repressor, transcript variant 1 (from RefSeq NM_009644.3) A0A0R4J020 A0A0R4J020_MOUSE Ahrr ENSMUST00000022059.1 ENSMUST00000022059.10 ENSMUST00000022059.11 ENSMUST00000022059.12 ENSMUST00000022059.13 ENSMUST00000022059.2 ENSMUST00000022059.3 ENSMUST00000022059.4 ENSMUST00000022059.5 ENSMUST00000022059.6 ENSMUST00000022059.7 ENSMUST00000022059.8 ENSMUST00000022059.9 NM_009644 uc007rev.1 uc007rev.2 uc007rev.3 This gene encodes a protein that represses aryl hydrocarbon receptor-dependent signaling. The encoded protein competes with the aryl hydrocarbon receptor transcription factor for heterodimerization with the aryl hydrocarbon receptor nuclear translocator protein and binding to xenobiotic response element (XRE) sequence in many genes. This protein is implicated in the regulation of cell growth and differentiation as well as mediating dioxin toxicity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]. nucleus regulation of transcription, DNA-templated xenobiotic metabolic process response to xenobiotic stimulus protein dimerization activity uc007rev.1 uc007rev.2 uc007rev.3 
ENSMUST00000022060.7 Pdcd6 ENSMUST00000022060.7 programmed cell death 6, transcript variant 1 (from RefSeq NM_011051.3) Alg2 ENSMUST00000022060.1 ENSMUST00000022060.2 ENSMUST00000022060.3 ENSMUST00000022060.4 ENSMUST00000022060.5 ENSMUST00000022060.6 NM_011051 P12815 PDCD6_MOUSE Q545I0 Q61145 uc007rey.1 uc007rey.2 uc007rey.3 uc007rey.4 Calcium sensor that plays a key role in processes such as endoplasmic reticulum (ER)-Golgi vesicular transport, endosomal biogenesis or membrane repair (PubMed:10744743, PubMed:11525164, PubMed:27541325). Acts as an adapter that bridges unrelated proteins or stabilizes weak protein-protein complexes in response to calcium: calcium-binding triggers exposure of apolar surface, promoting interaction with different sets of proteins thanks to 3 different hydrophobic pockets, leading to translocation to membranes (PubMed:10744743, PubMed:11525164, PubMed:27541325). Involved in ER- Golgi transport by promoting the association between PDCD6IP and TSG101, thereby bridging together the ESCRT-III and ESCRT-I complexes (PubMed:10744743, PubMed:11525164, PubMed:27541325). Together with PEF1, acts as a calcium-dependent adapter for the BCR(KLHL12) complex, a complex involved in ER-Golgi transport by regulating the size of COPII coats (By similarity). In response to cytosolic calcium increase, the heterodimer formed with PEF1 interacts with, and bridges together the BCR(KLHL12) complex and SEC31 (SEC31A or SEC31B), promoting monoubiquitination of SEC31 and subsequent collagen export, which is required for neural crest specification (By similarity). Involved in the regulation of the distribution and function of MCOLN1 in the endosomal pathway (By similarity). Promotes localization and polymerization of TFG at endoplasmic reticulum exit site (By similarity). Required for T-cell receptor-, Fas-, and glucocorticoid- induced apoptosis (PubMed:8560270). May mediate Ca(2+)-regulated signals along the death pathway: interaction with DAPK1 can accelerate apoptotic cell death by increasing caspase-3 activity (By similarity). Its role in apoptosis may however be indirect, as suggested by knockout experiments (PubMed:12024023). May inhibit KDR/VEGFR2-dependent angiogenesis; the function involves inhibition of VEGF-induced phosphorylation of the Akt signaling pathway (By similarity). [Isoform 2]: Has a lower Ca(2+) affinity than isoform 1 (PubMed:10744743). Homodimer and heterodimer; heterodimerizes (via the EF-hand 5) with PEF1 (PubMed:10200558, PubMed:11525164, PubMed:27541325). Isoform 1 and isoform 2 self-associate; probably forming homodimers (By similarity). Interacts with CPNE4 (via VWFA domain) (PubMed:12522145). Interacts with PDCD6IP; the interaction is calcium-dependent (PubMed:10200558, PubMed:10744743, PubMed:11525164). Interacts with RBM22 (By similarity). Interacts with PLSCR4 (By similarity). Interacts with ANXA7 and TSG101 (By similarity). Interacts with DAPK1 (By similarity). Interacts with SEC31A; the interaction is calcium- dependent and promotes monoubiquitination of SEC31A (By similarity). Interacts with ANXA11 (via N-terminus); the interaction is calcium- dependent (By similarity). Interacts with PLSCR3 (via N-terminus); the interaction is calcium-dependent (By similarity). Interacts with MCOLN1; the interaction is calcium-dependent (By similarity). Interacts with KDR; the interaction is calcium-dependent (By similarity). Interacts with HEBP2; the interaction is calcium-dependent (By similarity). Interacts with TFG (By similarity). Isoform 1: Interacts with SHISA5, leading to stabilize it (PubMed:17889823). Isoform 2: Does not interact with SHISA5 (PubMed:17889823). Isoform 2: Does not interact with PDCD6IP, TSG101, ANXA7 and ANXA11 (PubMed:10744743). P12815; P25445: FAS; Xeno; NbExp=2; IntAct=EBI-309164, EBI-494743; P12815; Q8N114: SHISA5; Xeno; NbExp=5; IntAct=EBI-309164, EBI-2115556; Endoplasmic reticulum membrane ; Peripheral membrane protein Cytoplasmic vesicle, COPII-coated vesicle membrane Cytoplasm Nucleus Endosome Note=Interaction with RBM22 induces relocalization from the cytoplasm to the nucleus. Translocated from the cytoplasm to the nucleus after heat shock cell treatment. Accumulates in cytoplasmic vesicle-like organelles after heat shock treatment, which may represent stress granules. In response to calcium increase, relocates from cytoplasm to COPII vesicle coat. Localizes to endoplasmic reticulum exit site (ERES). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=ALG-2,5; IsoId=P12815-1; Sequence=Displayed; Name=2; Synonyms=ALG-2,1; IsoId=P12815-2; Sequence=VSP_047715; Interacts with different set of proteins thanks to 3 different hydrophobic pockets. Hydrophobic pockets 1 and 2, which mediate interaction with PDCD6IP, are largely formed by residues from EF-hand 3 (EF3) to 5 (EF5), as well as by Tyr-180 (EF5) of a dimerizing molecule (Pocket 1) and from EF-hand (EF2) to 4 (EF4) (Pocket 2). Hydrophobic pocket 3, which mediates interaction with SEC31A, is mainly formed by residues from EF-hand 1 (EF1) to 3 (EF3). EF-hand 1 (EF1) and 3 (EF3) are the high-affinity calcium- binding sites, while EF-hand 5 (EF5) binds calcium with low-affinity (PubMed:11525164). A one-residue insertion in the EF5-binding loop prevents the glutamyl residue at the C-terminal end of the loop from serving as the canonical bidentate calcium ligand (PubMed:11525164). EF5 acts as a high-affinity magnesium-binding domain instead (PubMed:27541325). Magnesium, may affect dimerization (PubMed:27541325). EF5 may bind either calcium or magnesium depending on the context. No visible phenotype (PubMed:12024023). Mice develop normally and display no obvious immune defect (PubMed:12024023). T-cells retain susceptibility to apoptotic stimuli (PubMed:12024023). Sequence=CAA33064.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Golgi membrane magnesium ion binding angiogenesis positive regulation of endothelial cell proliferation calcium ion binding protein binding nucleus cytoplasm endosome endoplasmic reticulum endoplasmic reticulum membrane intracellular protein transport ER to Golgi vesicle-mediated transport apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process positive regulation of endothelial cell migration ER to Golgi transport vesicle membrane neural crest formation neural crest cell development membrane COPII vesicle coat protein binding, bridging negative regulation of vascular endothelial growth factor receptor signaling pathway cytoplasmic vesicle Cul3-RING ubiquitin ligase complex negative regulation of TOR signaling cellular response to heat vascular endothelial growth factor receptor-2 signaling pathway identical protein binding protein homodimerization activity positive regulation of cysteine-type endopeptidase activity involved in apoptotic process protein anchor positive regulation of angiogenesis metal ion binding protein dimerization activity COPII vesicle coating calcium-dependent protein binding response to calcium ion negative regulation of protein kinase B signaling binding, bridging endoplasmic reticulum exit site positive regulation of protein monoubiquitination uc007rey.1 uc007rey.2 uc007rey.3 uc007rey.4 
ENSMUST00000022062.8 Sdha ENSMUST00000022062.8 succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (from RefSeq NM_023281.1) ENSMUST00000022062.1 ENSMUST00000022062.2 ENSMUST00000022062.3 ENSMUST00000022062.4 ENSMUST00000022062.5 ENSMUST00000022062.6 ENSMUST00000022062.7 NM_023281 Q0QF19 Q3UH25 Q3UKP7 Q3V4B1 Q8K2B3 Q921P5 Q9Z1Z4 SDHA_MOUSE uc007rfa.1 uc007rfa.2 uc007rfa.3 Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). Can act as a tumor suppressor. Reaction=a quinone + succinate = a quinol + fumarate; Xref=Rhea:RHEA:40523, ChEBI:CHEBI:24646, ChEBI:CHEBI:29806, ChEBI:CHEBI:30031, ChEBI:CHEBI:132124; EC=1.3.5.1; Evidence=; Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1. Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD (By similarity). Interacts with SDHAF2/SDH5; interaction is required for FAD attachment (By similarity). Interacts with TRAP1 (By similarity). Interacts with LACC1 (By similarity). Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side Acetylation of Lys-498 and Lys-538 is observed in liver mitochondria from fasted mice but not from fed mice. Deacetylated by SIRT3. Phosphorylation at Tyr-215 is important for efficient electron transfer in complex II and the prevention of ROS generation. Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily. succinate dehydrogenase activity nucleolus mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) tricarboxylic acid cycle succinate metabolic process mitochondrial electron transport, succinate to ubiquinone nervous system development succinate dehydrogenase (ubiquinone) activity electron carrier activity membrane oxidoreductase activity oxidoreductase activity, acting on the CH-CH group of donors electron transport chain respiratory electron transport chain myelin sheath flavin adenine dinucleotide binding oxidation-reduction process uc007rfa.1 uc007rfa.2 uc007rfa.3 
ENSMUST00000022063.14 Ccdc127 ENSMUST00000022063.14 coiled-coil domain containing 127, transcript variant 2 (from RefSeq NM_024201.3) CC127_MOUSE ENSMUST00000022063.1 ENSMUST00000022063.10 ENSMUST00000022063.11 ENSMUST00000022063.12 ENSMUST00000022063.13 ENSMUST00000022063.2 ENSMUST00000022063.3 ENSMUST00000022063.4 ENSMUST00000022063.5 ENSMUST00000022063.6 ENSMUST00000022063.7 ENSMUST00000022063.8 ENSMUST00000022063.9 NM_024201 Q3TC33 Q3TPA8 Q9CQ15 uc007rfc.1 uc007rfc.2 uc007rfc.3 uc007rfc.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q3TC33-1; Sequence=Displayed; Name=2; IsoId=Q3TC33-2; Sequence=VSP_021885, VSP_021886; molecular_function cellular_component biological_process uc007rfc.1 uc007rfc.2 uc007rfc.3 uc007rfc.4 
ENSMUST00000022064.5 Lrrc14b ENSMUST00000022064.5 leucine rich repeat containing 14B (from RefSeq NM_001033042.3) ENSMUST00000022064.1 ENSMUST00000022064.2 ENSMUST00000022064.3 ENSMUST00000022064.4 LR14B_MOUSE Lrrc14b NM_001033042 Q3UJB3 Q6P1Y3 uc007rfe.1 uc007rfe.2 uc007rfe.3 Belongs to the PRAME family. LRRC14 subfamily. Sequence=AAH64819.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; molecular_function cytoplasm biological_process uc007rfe.1 uc007rfe.2 uc007rfe.3 
ENSMUST00000022075.6 Pcsk1 ENSMUST00000022075.6 proprotein convertase subtilisin/kexin type 1, transcript variant 1 (from RefSeq NM_013628.3) ENSMUST00000022075.1 ENSMUST00000022075.2 ENSMUST00000022075.3 ENSMUST00000022075.4 ENSMUST00000022075.5 NM_013628 Pcsk1 Q32MU0 Q32MU0_MOUSE uc007rfs.1 uc007rfs.2 uc007rfs.3 Involved in the processing of hormone and other protein precursors at sites comprised of pairs of basic amino acid residues. Substrates include POMC, renin, enkephalin, dynorphin, somatostatin, insulin and AGRP. Reaction=Release of protein hormones, neuropeptides and renin from their precursors, generally by hydrolysis of -Lys-Arg-|- bonds.; EC=3.4.21.93; Evidence=; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Cytoplasmic vesicle, secretory vesicle Vesicle Belongs to the peptidase S8 family. Furin subfamily. serine-type endopeptidase activity extracellular space proteolysis peptidase activity serine-type peptidase activity hydrolase activity uc007rfs.1 uc007rfs.2 uc007rfs.3 
ENSMUST00000022078.12 Rhobtb3 ENSMUST00000022078.12 Rho-related BTB domain containing 3, transcript variant 1 (from RefSeq NM_028493.3) ENSMUST00000022078.1 ENSMUST00000022078.10 ENSMUST00000022078.11 ENSMUST00000022078.2 ENSMUST00000022078.3 ENSMUST00000022078.4 ENSMUST00000022078.5 ENSMUST00000022078.6 ENSMUST00000022078.7 ENSMUST00000022078.8 ENSMUST00000022078.9 Kiaa0878 NM_028493 Q05DP2 Q3UTS4 Q80X55 Q9CTN4 Q9CVT0 RHBT3_MOUSE uc007rfy.1 uc007rfy.2 uc007rfy.3 Rab9-regulated ATPase required for endosome to Golgi transport. Involved in transport vesicle docking at the Golgi complex, possibly by participating in release M6PRBP1/TIP47 from vesicles to permit their efficient docking and fusion at the Golgi. Specifically binds Rab9, but not other Rab proteins. Has low intrinsic ATPase activity due to autoinhibition, which is relieved by Rab9 (By similarity). Interacts with RAB9A and RAB9B (at lower level compared to RAB9A-binding). Interacts with M6PRBP1/TIP47 (By similarity). Golgi apparatus Sequence=AAH05664.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; Sequence=BAC98044.1; Type=Erroneous initiation; Evidence=; nucleotide binding GTPase activity protein binding ATP binding GTP binding cytoplasm Golgi apparatus cytosol plasma membrane cell cortex actin filament organization establishment or maintenance of cell polarity Rho protein signal transduction motor neuron axon guidance regulation of cell shape male gonad development vesicle-mediated transport hydrolase activity ATPase activity Rab GTPase binding protein kinase binding actin cytoskeleton organization regulation of actin cytoskeleton organization retrograde transport, endosome to Golgi cell projection engulfment of apoptotic cell uc007rfy.1 uc007rfy.2 uc007rfy.3 
ENSMUST00000022081.3 Spata9 ENSMUST00000022081.3 spermatogenesis associated 9 (from RefSeq NM_029343.3) ENSMUST00000022081.1 ENSMUST00000022081.2 NM_029343 Q9D4M8 Q9D9R3 SPAT9_MOUSE uc007rgb.1 uc007rgb.2 uc007rgb.3 May play at role in testicular development/spermatogenesis and may be an important factor in male infertility. Membrane ; Single-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9D9R3-1; Sequence=Displayed; Name=2; IsoId=Q9D9R3-2; Sequence=VSP_023285, VSP_023286; In the 7-week-old, expressed in spermatogenic cells at every stage, (spermatogonium, primary spermatocyte, spermatid, and mature sperm). Expression levels increased during spermatogenesis. No expression in Leydig cells. molecular_function cellular_component multicellular organism development spermatogenesis biological_process membrane integral component of membrane cell differentiation uc007rgb.1 uc007rgb.2 uc007rgb.3 
ENSMUST00000022082.8 Glrx ENSMUST00000022082.8 glutaredoxin, transcript variant 1 (from RefSeq NM_053108.4) ENSMUST00000022082.1 ENSMUST00000022082.2 ENSMUST00000022082.3 ENSMUST00000022082.4 ENSMUST00000022082.5 ENSMUST00000022082.6 ENSMUST00000022082.7 GLRX1_MOUSE Glrx1 Grx Grx1 NM_053108 Q9QUH0 uc007rfx.1 uc007rfx.2 uc007rfx.3 uc007rfx.4 Has a glutathione-disulfide oxidoreductase activity in the presence of NADPH and glutathione reductase. Reduces low molecular weight disulfides and proteins. Cytoplasm. Belongs to the glutaredoxin family. nucleus cytoplasm mitochondrion mitochondrial intermembrane space cytosol electron carrier activity protein disulfide oxidoreductase activity glutathione disulfide oxidoreductase activity protein-disulfide reductase (glutathione) activity electron transport chain dendrite positive regulation of insulin secretion neuronal cell body cell redox homeostasis positive regulation of membrane potential positive regulation of exocytosis protein N-terminus binding oxidation-reduction process positive regulation of cell adhesion molecule production cellular response to estradiol stimulus positive regulation of NIK/NF-kappaB signaling negative regulation of hydrogen peroxide-mediated programmed cell death negative regulation of platelet-derived growth factor receptor-beta signaling pathway positive regulation of sodium ion transmembrane transporter activity uc007rfx.1 uc007rfx.2 uc007rfx.3 uc007rfx.4 
ENSMUST00000022087.7 Nsun2 ENSMUST00000022087.7 RNA cytosine C(5)-methyltransferase that methylates cytosine to 5-methylcytosine (m5C) in various RNAs, such as tRNAs, mRNAs and some long non-coding RNAs (lncRNAs) (PubMed:22144916, PubMed:23871666, PubMed:31199786). Involved in various processes, such as epidermal stem cell differentiation, testis differentiation and maternal to zygotic transition during early development: acts by increasing protein synthesis; cytosine C(5)-methylation promoting tRNA stability and preventing mRNA decay (PubMed:22144916, PubMed:22885326, PubMed:23401851, PubMed:31199786). Methylates cytosine to 5- methylcytosine (m5C) at positions 34 and 48 of intron-containing tRNA(Leu)(CAA) precursors, and at positions 48, 49 and 50 of tRNA(Gly)(GCC) precursors (PubMed:22885326, PubMed:23871666, PubMed:31199786). tRNA methylation is required generation of RNA fragments derived from tRNAs (tRFs) (PubMed:31199786). Also mediates C(5)-methylation of mitochondrial tRNAs (PubMed:31276587, PubMed:31287866). Catalyzes cytosine C(5)-methylation of mRNAs, leading to stabilize them and prevent mRNA decay: mRNA stabilization involves YBX1 that specifically recognizes and binds m5C-modified transcripts (By similarity). Cytosine C(5)-methylation of mRNAs also regulates mRNA export: methylated transcripts are specifically recognized by THOC4/ALYREF, which mediates mRNA nucleo-cytoplasmic shuttling (By similarity). Also mediates cytosine C(5)-methylation of non-coding RNAs, such as vault RNAs (vtRNAs), promoting their processing into regulatory small RNAs (PubMed:23871666). Cytosine C(5)-methylation of vtRNA VTRNA1.1 promotes its processing into small-vault RNA4 (svRNA4) and regulates epidermal differentiation (By similarity). May act downstream of Myc to regulate epidermal cell growth and proliferation (PubMed:16713953). Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity (PubMed:19596847). (from UniProt Q1HFZ0) A0PJD6 AK030124 D13Wsu123e ENSMUST00000022087.1 ENSMUST00000022087.2 ENSMUST00000022087.3 ENSMUST00000022087.4 ENSMUST00000022087.5 ENSMUST00000022087.6 Misu NSUN2_MOUSE Nsun2 Q1HFZ0 Q3U972 Q8BPG9 Q8CDF9 Q91YX9 uc007rcn.1 uc007rcn.2 uc007rcn.3 uc007rcn.4 RNA cytosine C(5)-methyltransferase that methylates cytosine to 5-methylcytosine (m5C) in various RNAs, such as tRNAs, mRNAs and some long non-coding RNAs (lncRNAs) (PubMed:22144916, PubMed:23871666, PubMed:31199786). Involved in various processes, such as epidermal stem cell differentiation, testis differentiation and maternal to zygotic transition during early development: acts by increasing protein synthesis; cytosine C(5)-methylation promoting tRNA stability and preventing mRNA decay (PubMed:22144916, PubMed:22885326, PubMed:23401851, PubMed:31199786). Methylates cytosine to 5- methylcytosine (m5C) at positions 34 and 48 of intron-containing tRNA(Leu)(CAA) precursors, and at positions 48, 49 and 50 of tRNA(Gly)(GCC) precursors (PubMed:22885326, PubMed:23871666, PubMed:31199786). tRNA methylation is required generation of RNA fragments derived from tRNAs (tRFs) (PubMed:31199786). Also mediates C(5)-methylation of mitochondrial tRNAs (PubMed:31276587, PubMed:31287866). Catalyzes cytosine C(5)-methylation of mRNAs, leading to stabilize them and prevent mRNA decay: mRNA stabilization involves YBX1 that specifically recognizes and binds m5C-modified transcripts (By similarity). Cytosine C(5)-methylation of mRNAs also regulates mRNA export: methylated transcripts are specifically recognized by THOC4/ALYREF, which mediates mRNA nucleo-cytoplasmic shuttling (By similarity). Also mediates cytosine C(5)-methylation of non-coding RNAs, such as vault RNAs (vtRNAs), promoting their processing into regulatory small RNAs (PubMed:23871666). Cytosine C(5)-methylation of vtRNA VTRNA1.1 promotes its processing into small-vault RNA4 (svRNA4) and regulates epidermal differentiation (By similarity). May act downstream of Myc to regulate epidermal cell growth and proliferation (PubMed:16713953). Required for proper spindle assembly and chromosome segregation, independently of its methyltransferase activity (PubMed:19596847). Reaction=cytidine(48) in tRNA + S-adenosyl-L-methionine = 5- methylcytidine(48) in tRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:42948, Rhea:RHEA-COMP:10293, Rhea:RHEA-COMP:10297, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74483, ChEBI:CHEBI:82748; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42949; Evidence= Reaction=cytidine(49) in tRNA + S-adenosyl-L-methionine = 5- methylcytidine(49) in tRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:42952, Rhea:RHEA-COMP:10294, Rhea:RHEA-COMP:10385, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74483, ChEBI:CHEBI:82748; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42953; Evidence= Reaction=cytidine(50) in tRNA + S-adenosyl-L-methionine = 5- methylcytidine(50) in tRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:61488, Rhea:RHEA-COMP:15838, Rhea:RHEA-COMP:15839, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74483, ChEBI:CHEBI:82748; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61489; Evidence= Reaction=cytidine(34) in tRNA precursor + S-adenosyl-L-methionine = 5- methylcytidine(34) in tRNA precursor + H(+) + S-adenosyl-L- homocysteine; Xref=Rhea:RHEA:42940, Rhea:RHEA-COMP:10291, Rhea:RHEA- COMP:10295, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74483, ChEBI:CHEBI:82748; EC=2.1.1.203; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42941; Evidence=; Reaction=a cytidine in mRNA + S-adenosyl-L-methionine = a 5- methylcytidine in mRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:61464, Rhea:RHEA-COMP:15145, Rhea:RHEA-COMP:15826, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74483, ChEBI:CHEBI:82748; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61465; Evidence=; Inhibited by magnesium ions. Interacts with NPM1 and NCL during interphase; interaction is disrupted following phosphorylation at Ser-139. Nucleus, nucleolus toplasm Mitochondrion Cytoplasm, cytoskeleton, spindle Secreted, extracellular exosome Note=Concentrated in the nucleolus during interphase and translocates to the spindle during mitosis as an RNA-protein complex that includes 18S ribosomal RNA (PubMed:19596847). In testis, localizes to the chromatoid body (PubMed:23401851). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q1HFZ0-1; Sequence=Displayed; Name=2; IsoId=Q1HFZ0-2; Sequence=VSP_025969; Ubiquitously expressed at low level (PubMed:16713953). Up-regulated in tumors (PubMed:16713953). Dynamically expressed during morphogenesis and in adult skin: in adult skin, expression is up-regulated in the bulge and hair germ as soon as the hair follicle enters its growing phase (anagen) (PubMed:22144916). During anagen, expressed at highest level in cells of the hair germ that give rise to the hair matrix (PubMed:22144916). Detected from 3.5 dpc in the inner cell mass of the blastocyst (PubMed:22144916). Expressed throughout the extra- embryonic ectoderm, which gives rise to the nervous system and epidermis, after implantation and gastrulation (PubMed:22144916). Starting from 9.5 dpc, expression becomes more restricted and at 13.5 and 14.5 dpc it is enriched in developing whiskers and eyes (PubMed:22144916). From 15.5 dpc, when the interfollicular epidermis begins to stratify and follicular morphogenesis starts by forming hair placodes, highest expression is observed in the suprabasal layer of interfollicular epidermis (PubMed:22144916). By Myc (at protein level). Phosphorylated at Ser-139 by AURKB during mitosis, leading to abolish methyltransferase activity and the interaction with NPM1. Mice are viable but show male sterility (PubMed:22144916, PubMed:23401851). Mice display reduced body weight and partial alopecia; alopecia is caused by impaired stem cell differentiation in the epidermis, leading to a delay in initiation of anagen (PubMed:22144916). Mice lacking both Nsun2 and Trdmt1 display a complete loss of cytosine-C5 tRNA methylation, leading to development defects and impaired cellular differentiation causing lethality before P3 (PubMed:22885326). Male sterility is caused by impaired germ cell differentiation in the testis: meiotic progression of germ cells is blocked into the pachytene stage, while spermatogonial and Sertoli cells are unaffected (PubMed:23401851). Belongs to the class I-like SAM-binding methyltransferase superfamily. RsmB/NOP family. TRM4 subfamily. Sequence=AAH13625.1; Type=Erroneous initiation; Evidence=; Sequence=AAH25549.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; Sequence=BAC36110.1; Type=Erroneous initiation; Evidence=; tRNA binding in utero embryonic development RNA binding nucleus nucleolus cytoplasm spindle cytoskeleton cell cycle spermatid development tRNA processing methyltransferase activity tRNA (cytosine-5-)-methyltransferase activity transferase activity tRNA methylation methylation meiotic cell cycle checkpoint chromatoid body hair follicle maturation cell division uc007rcn.1 uc007rcn.2 uc007rcn.3 uc007rcn.4 
ENSMUST00000022089.10 Med10 ENSMUST00000022089.10 mediator complex subunit 10, transcript variant 1 (from RefSeq NM_138596.2) D13Wsu50e ENSMUST00000022089.1 ENSMUST00000022089.2 ENSMUST00000022089.3 ENSMUST00000022089.4 ENSMUST00000022089.5 ENSMUST00000022089.6 ENSMUST00000022089.7 ENSMUST00000022089.8 ENSMUST00000022089.9 MED10_MOUSE NM_138596 Q3U0W8 Q80VV0 Q9CXU0 uc007rcq.1 uc007rcq.2 uc007rcq.3 Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP (By similarity). Nucleus Belongs to the Mediator complex subunit 10 family. ubiquitin ligase complex transcription cofactor activity nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter protein ubiquitination mediator complex stem cell population maintenance positive regulation of transcription from RNA polymerase II promoter ubiquitin protein ligase activity uc007rcq.1 uc007rcq.2 uc007rcq.3 
ENSMUST00000022097.6 Ndufs6 ENSMUST00000022097.6 NADH:ubiquinone oxidoreductase core subunit S6, transcript variant 1 (from RefSeq NM_010888.3) ENSMUST00000022097.1 ENSMUST00000022097.2 ENSMUST00000022097.3 ENSMUST00000022097.4 ENSMUST00000022097.5 Ip13 NDUS6_MOUSE NM_010888 P52503 Q5M9J7 uc007rdh.1 uc007rdh.2 uc007rdh.3 uc007rdh.4 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme. Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side Male and female mice are fertile but produce smaller litters and pups have a lower neonatal survival rate (PubMed:22474353). While mice are normal during the first 4 months of life, they are prone to rapid onset weight loss and sudden death after this period (PubMed:22474353). They display cardiomyopathy associated with a doubling of heart weight, impaired systolic function and a reduction in functional capacity (PubMed:22474353). Males are most severely affected, with a propensity to develop cardiac failure and diminished survival after 4 months of age (PubMed:22474353). Defects are due to membrane respiratory chain NADH dehydrogenase (Complex I) deficiency (PubMed:22474353). In the knockout experiment described above, mice show a complete knockout of Ndufs6 subunit in heart resulting in marked complex I deficiency, but small amounts of wild- type Ndufs6 mRNA are still present in other tissues, probably due to tissue-specific mRNA splicing, resulting in milder complex I defects (PubMed:22474353). Belongs to the complex I NDUFS6 subunit family. molecular_function mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I mitochondrial electron transport, NADH to ubiquinone fatty acid metabolic process muscle contraction multicellular organism aging membrane respiratory electron transport chain multicellular organism growth oxidation-reduction process reproductive system development respiratory chain mitochondrion morphogenesis cardiovascular system development uc007rdh.1 uc007rdh.2 uc007rdh.3 uc007rdh.4 
ENSMUST00000022100.7 Slc6a3 ENSMUST00000022100.7 solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (from RefSeq NM_010020.3) Dat Dat1 ENSMUST00000022100.1 ENSMUST00000022100.2 ENSMUST00000022100.3 ENSMUST00000022100.4 ENSMUST00000022100.5 ENSMUST00000022100.6 NM_010020 Q60719 Q61327 Q9R1I2 SC6A3_MOUSE uc007rdn.1 uc007rdn.2 Mediates sodium- and chloride-dependent transport of dopamine (PubMed:10375632, PubMed:12606774). Also mediates sodium- and chloride- dependent transport of norepinephrine (also known as noradrenaline) (By similarity). Regulator of light-dependent retinal hyaloid vessel regression, downstream of OPN5 signaling (PubMed:30936473). Reaction=chloride(out) + dopamine(out) + Na(+)(out) = chloride(in) + dopamine(in) + Na(+)(in); Xref=Rhea:RHEA:70919, ChEBI:CHEBI:17996, ChEBI:CHEBI:29101, ChEBI:CHEBI:59905; Evidence=; Reaction=(R)-noradrenaline(out) + chloride(out) + Na(+)(out) = (R)- noradrenaline(in) + chloride(in) + Na(+)(in); Xref=Rhea:RHEA:70923, ChEBI:CHEBI:17996, ChEBI:CHEBI:29101, ChEBI:CHEBI:72587; Evidence=; Reaction=chloride(out) + dopamine(out) + 2 Na(+)(out) = chloride(in) + dopamine(in) + 2 Na(+)(in); Xref=Rhea:RHEA:70931, ChEBI:CHEBI:17996, ChEBI:CHEBI:29101, ChEBI:CHEBI:59905; Evidence=; Inhibited by amphetamine, bupropion, cocaine and ritalin. Kinetic parameters: KM=2 uM for dopamine ; KM=2.1 uM for dopamine ; Homooligomer; disulfide-linked (By similarity). Interacts with PRKCABP and TGFB1I1 (PubMed:12177201). Interacts (via N-terminus) with SYNGR3 (via N-terminus) (PubMed:19357284). Interacts with SLC18A2 (PubMed:19357284). Interacts with TOR1A (ATP-bound); TOR1A regulates SLC6A3 subcellular location. Interacts with alpha-synuclein/SNCA (By similarity). Interacts with SEPTIN4 (PubMed:17296554). Q61327; O55042: Snca; NbExp=5; IntAct=EBI-7839708, EBI-2310271; Q61327; P37840: SNCA; Xeno; NbExp=5; IntAct=EBI-7839708, EBI-985879; Cell membrane ; Multi-pass membrane protein Cell projection, neuron projection Cell projection, axon Note=Localizes to neurite tips in neuronal cells (By similarity). Colocalizes with SEPTIN4 at axon terminals, especially at the varicosities (PubMed:17296554). Found in the substantia nigra and ventral tegmental dopamine neurons, in fibers of the medial forebrain bundle ascending into the striatum, and within dense fiber networks and varicosities in the dorsal and ventral striatum (at protein level) (PubMed:19357284, PubMed:17296554). Lower expression in the cortex (at protein level) (PubMed:19357284). Absent from the corpus callosum (PubMed:19357284). Expressed throughout the retina at postnatal day 8 (PubMed:30936473). This protein is the target of psychomotor stimulants such as amphetamines and cocaine. Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A3 subfamily. neurotransmitter uptake protease binding receptor binding neurotransmitter:sodium symporter activity dopamine:sodium symporter activity norepinephrine:sodium symporter activity protein binding plasma membrane integral component of plasma membrane neurotransmitter transport aging lactation sensory perception of smell locomotory behavior drug binding monoamine transmembrane transporter activity cell surface response to iron ion response to organic cyclic compound symporter activity monoamine transport dopamine transport norepinephrine transport membrane integral component of membrane flotillin complex adenohypophysis development axon neuronal cell body membrane response to nicotine dopamine binding positive regulation of multicellular organism growth regulation of dopamine metabolic process response to cocaine dopamine biosynthetic process dopamine catabolic process response to drug presynaptic membrane neuron projection neuronal cell body macromolecular complex binding membrane raft response to ethanol metal ion binding protein N-terminus binding dopamine uptake involved in synaptic transmission response to cAMP norepinephrine uptake protein phosphatase 2A binding transmembrane transport prepulse inhibition dopamine uptake integral component of postsynaptic membrane integral component of presynaptic membrane uc007rdn.1 uc007rdn.2 
ENSMUST00000022102.9 Clptm1l ENSMUST00000022102.9 CLPTM1-like (from RefSeq NM_146047.2) CLP1L_MOUSE ENSMUST00000022102.1 ENSMUST00000022102.2 ENSMUST00000022102.3 ENSMUST00000022102.4 ENSMUST00000022102.5 ENSMUST00000022102.6 ENSMUST00000022102.7 ENSMUST00000022102.8 NM_146047 Q3U176 Q8BXA5 Q8C053 Q8R0P2 uc007rdo.1 uc007rdo.2 uc007rdo.3 uc007rdo.4 Scramblase that mediates the translocation of glucosaminylphosphatidylinositol (alpha-D-GlcN-(1-6)-(1,2-diacyl-sn- glycero-3-phospho)-1D-myo-inositol, GlcN-PI) across the endoplasmic reticulum (ER) membrane, from the cytosolic leaflet to the luminal leaflet of the ER membrane, where it participates in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a lipid glycoconjugate involved in post-translational modification of proteins. Can also translocate 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) (phosphatidylinositol or PI), as well as several other phospholipids (1,2-diacyl-sn-glycero-3-phosphocholine, 1,2-diacyl-sn-glycero-3- phosphoethanolamine), and N-acetylglucosaminylphosphatidylinositol (GlcNAc-PI) in vitro. Reaction=an alpha-D-GlcN-(1->6)-(1,2-diacyl-sn-glycero-3-phospho)-1D- myo-inositol(in) = an alpha-D-GlcN-(1->6)-(1,2-diacyl-sn-glycero-3- phospho)-1D-myo-inositol(out); Xref=Rhea:RHEA:71491, ChEBI:CHEBI:57997; Evidence=; Reaction=6-(alpha-D-glucosaminyl)-(1-octadecanoyl,2-(9Z)-octadecenoyl- sn-glycero-3-phospho)-1D-myo-inositol(in) = 6-(alpha-D-glucosaminyl)- (1-octadecanoyl,2-(9Z)-octadecenoyl-sn-glycero-3-phospho)-1D-myo- inositol(out); Xref=Rhea:RHEA:71495, ChEBI:CHEBI:190691; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(in) = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol)(out); Xref=Rhea:RHEA:38691, ChEBI:CHEBI:57880; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl- sn-glycero-3-phosphocholine(out); Xref=Rhea:RHEA:38571, ChEBI:CHEBI:57643; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine(in) = a 1,2- diacyl-sn-glycero-3-phosphoethanolamine(out); Xref=Rhea:RHEA:38895, ChEBI:CHEBI:64612; Evidence=; Endoplasmic reticulum membrane ; Multi-pass membrane protein Belongs to the CLPTM1 family. Sequence=AAH26562.1; Type=Erroneous initiation; Evidence=; Sequence=BAC27798.1; Type=Frameshift; Evidence=; molecular_function apoptotic process biological_process membrane integral component of membrane uc007rdo.1 uc007rdo.2 uc007rdo.3 uc007rdo.4 
ENSMUST00000022104.9 Tert ENSMUST00000022104.9 telomerase reverse transcriptase, transcript variant 1 (from RefSeq NM_009354.2) ENSMUST00000022104.1 ENSMUST00000022104.2 ENSMUST00000022104.3 ENSMUST00000022104.4 ENSMUST00000022104.5 ENSMUST00000022104.6 ENSMUST00000022104.7 ENSMUST00000022104.8 NM_009354 O35432 O70372 Q9JK99 TERT_MOUSE uc007rdq.1 uc007rdq.2 uc007rdq.3 Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nucleotide telomeric repeat unit, 5'-TTAGGG-3'. The catalytic cycle involves primer binding, primer extension and release of product once the template boundary has been reached or nascent product translocation followed by further extension. More active on substrates containing 2 or 3 telomeric repeats. Telomerase activity is regulated by a number of factors including telomerase complex- associated proteins, chaperones and polypeptide modifiers. Modulates Wnt signaling. Plays important roles in aging and antiapoptosis (By similarity). Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1); Xref=Rhea:RHEA:22508, Rhea:RHEA-COMP:17339, Rhea:RHEA-COMP:17340, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:173112; EC=2.7.7.49; Evidence= Catalytic component of the telomerase holoenzyme complex composed of one molecule of TERT, one molecule of WRAP53/TCAB1, two molecules of H/ACA ribonucleoprotein complex subunits DKC1, NOP10, NHP2 and GAR1, and a telomerase RNA template component (TERC). The telomerase holoenzyme complex is associated with TEP1, SMG6/EST1A and POT1. The molecular chaperone HSP90/P23 complex is required for correct assembly and stabilization of the active telomerase. Interacts directly with HSP90A and PTGES3. Interacts with HSPA1A; the interaction occurs in the absence of TERC and dissociates once the complex has formed. Interacts with RAN; the interaction promotes nuclear export of TERT. Interacts with XPO1. Interacts with PTPN11; the interaction retains TERT in the nucleus. Interacts with NCL (via RRM1 and C-terminal RRM4/Arg/Gly-rich domains); the interaction is important for nucleolar localization of TERT (By similarity). Interacts with SMARCA4 (via the bromodomain); the interaction regulates Wnt-mediated signaling (PubMed:19571879). Interacts with MCRS1 (isoform MCRS2); the interaction inhibits in vitro telomerase activity (By similarity). Interacts with PIF1; the interaction has no effect on the elongation activity of TERT (PubMed:17130244). Interacts with PML; the interaction recruits TERT to PML bodies and inhibits telomerase activity (By similarity). Interacts with GNL3L (PubMed:19487455). Interacts with isoform 1 and isoform 2 of NVL (By similarity). Interacts with DHX36 (By similarity). Interacts with ATF7 (By similarity). O70372; Q3TKT4: Smarca4; NbExp=2; IntAct=EBI-9662790, EBI-1210244; Nucleus, nucleolus Nucleus, nucleoplasm Nucleus. Chromosome, telomere. Cytoplasm Nucleus, PML body Note=Shuttling between nuclear and cytoplasm depends on cell cycle, phosphorylation states, transformation and DNA damage. Diffuse localization in the nucleoplasm. Enriched in nucleoli of certain cell types. Translocated to the cytoplasm via nuclear pores in a CRM1/RAN-dependent manner involving oxidative stress-mediated phosphorylation at Tyr-697. Dephosphorylation at this site by SHP2 retains TERT in the nucleus. Translocated to the nucleus by phosphorylation by AKT (By similarity). High activity in intestine, liver and testis, moderate in lung, very low in muscle, heart and brain. Highest levels in midgestational stages, 9.5 dpc to 15.5 dpc. The primer grip sequence in the RT domain is required for telomerase activity and for stable association with short telomeric primers. The RNA-interacting domain 1 (RD1)/N-terminal extension (NTE) is required for interaction with the pseudoknot-template domain of each of TERC dimers. It contains anchor sites that bind primer nucleotides upstream of the RNA-DNA hybrid and is thus an essential determinant of repeat addition processivity (By similarity). The RNA-interacting domain 2 (RD2) is essential for both interaction with the CR4-CR5 domain of TERC and for DNA synthesis. Phosphorylation at Tyr-697 under oxidative stress leads to translocation of TERT to the cytoplasm and reduces its antiapoptotic activity. Dephosphorylated by SHP2/PTPN11 leading to nuclear retention. Phosphorylation by the AKT pathway promotes nuclear location. Phosphorylation at the G2/M phase at Ser-447 by DYRK2 promotes ubiquitination by the EDVP complex and degradation (By similarity). Ubiquitinated by the EDVP complex, a E3 ligase complex following phosphorylation at Ser-447 by DYRK2. Ubiquitinated leads to proteasomal degradation (By similarity). Belongs to the reverse transcriptase family. Telomerase subfamily. Was originally thought to originate from rat. tRNA binding telomerase catalytic core complex chromosome, telomeric region nuclear chromosome, telomeric region transcription, RNA-templated transcription coactivator binding DNA binding telomerase activity telomerase RNA reverse transcriptase activity RNA binding RNA-directed DNA polymerase activity RNA-directed 5'-3' RNA polymerase activity protein binding nucleus nucleoplasm chromosome telomerase holoenzyme complex nucleolus cytoplasm mitochondrion cytosol plasma membrane RNA-dependent DNA biosynthetic process telomere maintenance via telomerase mitochondrion organization protein C-terminus binding negative regulation of gene expression PML body nuclear speck transferase activity nucleotidyltransferase activity DNA strand elongation positive regulation of Wnt signaling pathway production of siRNA involved in RNA interference RNA-directed RNA polymerase complex regulation of protein stability positive regulation of protein binding telomeric DNA binding positive regulation of hair cycle mitochondrial nucleoid identical protein binding protein homodimerization activity negative regulation of apoptotic process negative regulation of neuron apoptotic process positive regulation of angiogenesis positive regulation of glucose import response to cadmium ion metal ion binding protein N-terminus binding positive regulation of nitric-oxide synthase activity chaperone binding negative regulation of glial cell proliferation telomerase RNA binding establishment of protein localization to telomere cellular response to hypoxia DNA biosynthetic process replicative senescence positive regulation of G1/S transition of mitotic cell cycle positive regulation of pri-miRNA transcription from RNA polymerase II promoter positive regulation of transdifferentiation negative regulation of production of siRNA involved in RNA interference regulation of histone demethylase activity (H3-K4 specific) positive regulation of vascular smooth muscle cell proliferation positive regulation of protein localization to nucleolus positive regulation of vascular associated smooth muscle cell migration TERT-RMRP complex negative regulation of endothelial cell apoptotic process positive regulation of stem cell proliferation negative regulation of cellular senescence negative regulation of extrinsic apoptotic signaling pathway in absence of ligand uc007rdq.1 uc007rdq.2 uc007rdq.3 
ENSMUST00000022108.9 Hapln1 ENSMUST00000022108.9 hyaluronan and proteoglycan link protein 1 (from RefSeq NM_013500.4) Crtl1 ENSMUST00000022108.1 ENSMUST00000022108.2 ENSMUST00000022108.3 ENSMUST00000022108.4 ENSMUST00000022108.5 ENSMUST00000022108.6 ENSMUST00000022108.7 ENSMUST00000022108.8 HPLN1_MOUSE NM_013500 Q9D1G9 Q9QUP5 Q9Z1X7 uc007rjf.1 uc007rjf.2 uc007rjf.3 uc007rjf.4 Stabilizes the aggregates of proteoglycan monomers with hyaluronic acid in the extracellular cartilage matrix. Secreted, extracellular space, extracellular matrix. Ubiquitously expressed. Belongs to the HAPLN family. skeletal system development hyaluronic acid binding extracellular region cell adhesion central nervous system development extracellular matrix structural constituent conferring compression resistance extracellular matrix synapse uc007rjf.1 uc007rjf.2 uc007rjf.3 uc007rjf.4 
ENSMUST00000022115.14 Xrcc4 ENSMUST00000022115.14 X-ray repair complementing defective repair in Chinese hamster cells 4 (from RefSeq NM_028012.4) A0A0R4J024 A0A0R4J024_MOUSE ENSMUST00000022115.1 ENSMUST00000022115.10 ENSMUST00000022115.11 ENSMUST00000022115.12 ENSMUST00000022115.13 ENSMUST00000022115.2 ENSMUST00000022115.3 ENSMUST00000022115.4 ENSMUST00000022115.5 ENSMUST00000022115.6 ENSMUST00000022115.7 ENSMUST00000022115.8 ENSMUST00000022115.9 NM_028012 Xrcc4 uc007rjn.1 uc007rjn.2 uc007rjn.3 uc007rjn.4 Nucleus Belongs to the XRCC4-XLF family. XRCC4 subfamily. DNA binding nucleus nucleoplasm cytosol DNA-dependent protein kinase-DNA ligase 4 complex double-strand break repair double-strand break repair via nonhomologous end joining DNA recombination protein C-terminus binding response to X-ray DNA ligase IV complex identical protein binding DNA ligation involved in DNA repair positive regulation of ligase activity nonhomologous end joining complex cellular response to lithium ion uc007rjn.1 uc007rjn.2 uc007rjn.3 uc007rjn.4 
ENSMUST00000022119.6 Atg10 ENSMUST00000022119.6 autophagy related 10, transcript variant 1 (from RefSeq NM_025770.4) A0A0R4J029 A0A0R4J029_MOUSE Atg10 ENSMUST00000022119.1 ENSMUST00000022119.2 ENSMUST00000022119.3 ENSMUST00000022119.4 ENSMUST00000022119.5 NM_025770 uc007rjr.1 uc007rjr.2 uc007rjr.3 Belongs to the ATG10 family. autophagy ER overload response protein modification by small protein conjugation uc007rjr.1 uc007rjr.2 uc007rjr.3 
ENSMUST00000022120.5 Acot12 ENSMUST00000022120.5 acyl-CoA thioesterase 12, transcript variant 1 (from RefSeq NM_028790.4) ACO12_MOUSE Cach Cach1 ENSMUST00000022120.1 ENSMUST00000022120.2 ENSMUST00000022120.3 ENSMUST00000022120.4 NM_028790 Q544M5 Q8R108 Q9DBK0 uc007rka.1 uc007rka.2 uc007rka.3 Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels. Preferentially hydrolyzes acetyl-CoA. Reaction=acetyl-CoA + H2O = acetate + CoA + H(+); Xref=Rhea:RHEA:20289, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288; EC=3.1.2.1; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:20290; Evidence=; Reaction=butanoyl-CoA + H2O = butanoate + CoA + H(+); Xref=Rhea:RHEA:40111, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17968, ChEBI:CHEBI:57287, ChEBI:CHEBI:57371; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40112; Evidence=; Reaction=H2O + hexanoyl-CoA = CoA + H(+) + hexanoate; Xref=Rhea:RHEA:40115, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17120, ChEBI:CHEBI:57287, ChEBI:CHEBI:62620; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40116; Evidence=; Allosterically regulated by ATP (activator) and ADP (inhibitor) (By similarity). Cold labile, it dissociates into inactive monomers at low temperature (By similarity). Lipid metabolism; fatty acid metabolism. Homodimer or homotetramer. Cytoplasm, cytosol fatty-acyl-CoA binding acetyl-CoA hydrolase activity ATP binding cytoplasm cytosol acetyl-CoA metabolic process lipid metabolic process fatty acid metabolic process acyl-CoA metabolic process lipid binding hydrolase activity thiolester hydrolase activity long-chain fatty acyl-CoA binding protein homodimerization activity acyl-CoA hydrolase activity protein homotetramerization carboxylic ester hydrolase activity uc007rka.1 uc007rka.2 uc007rka.3 
ENSMUST00000022121.13 Zcchc9 ENSMUST00000022121.13 zinc finger, CCHC domain containing 9 (from RefSeq NM_145453.2) E9QQ14 ENSMUST00000022121.1 ENSMUST00000022121.10 ENSMUST00000022121.11 ENSMUST00000022121.12 ENSMUST00000022121.2 ENSMUST00000022121.3 ENSMUST00000022121.4 ENSMUST00000022121.5 ENSMUST00000022121.6 ENSMUST00000022121.7 ENSMUST00000022121.8 ENSMUST00000022121.9 NM_145453 Q8R1J3 Q921T6 ZCHC9_MOUSE uc007rkb.1 uc007rkb.2 uc007rkb.3 May down-regulate transcription mediated by NF-kappa-B and the serum response element. Nucleus, nucleolus Nucleus Note=Expressed throughout the nucleus and concentrated mainly in the nucleolus. Detected in brain cortex and in testis. Sequence=BC010687; Type=Erroneous termination; Note=Extended C-terminus.; Evidence=; nucleic acid binding cellular_component nucleus nucleolus zinc ion binding negative regulation of phosphatase activity metal ion binding uc007rkb.1 uc007rkb.2 uc007rkb.3 
ENSMUST00000022122.4 Ckmt2 ENSMUST00000022122.4 creatine kinase, mitochondrial 2 (from RefSeq NM_198415.4) ENSMUST00000022122.1 ENSMUST00000022122.2 ENSMUST00000022122.3 KCRS_MOUSE NM_198415 Q6P8J7 uc007rkc.1 uc007rkc.2 Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa (By similarity). Reaction=ATP + creatine = ADP + H(+) + N-phosphocreatine; Xref=Rhea:RHEA:17157, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57947, ChEBI:CHEBI:58092, ChEBI:CHEBI:456216; EC=2.7.3.2; Evidence=; Exists as an octamer composed of four CKMT2 homodimers. Mitochondrion inner membrane ; Peripheral membrane protein ; Intermembrane side Mitochondrial creatine kinase binds cardiolipin. Belongs to the ATP:guanido phosphotransferase family. nucleotide binding catalytic activity creatine kinase activity ATP binding mitochondrion mitochondrial inner membrane phosphocreatine metabolic process membrane kinase activity phosphorylation transferase activity transferase activity, transferring phosphorus-containing groups phosphocreatine biosynthetic process cardiolipin binding uc007rkc.1 uc007rkc.2 
ENSMUST00000022124.10 Cd180 ENSMUST00000022124.10 CD180 antigen, transcript variant 1 (from RefSeq NM_008533.2) CD180_MOUSE ENSMUST00000022124.1 ENSMUST00000022124.2 ENSMUST00000022124.3 ENSMUST00000022124.4 ENSMUST00000022124.5 ENSMUST00000022124.6 ENSMUST00000022124.7 ENSMUST00000022124.8 ENSMUST00000022124.9 Ly78 NM_008533 Q62192 Q8C251 Rp105 uc007rry.1 uc007rry.2 uc007rry.3 May cooperate with MD-1 and TLR4 to mediate the innate immune response to bacterial lipopolysaccharide (LPS) in B-cells. Leads to NF- kappa-B activation. Also involved in the life/death decision of B- cells. M-shaped tetramer of two CD180-LY86 heterodimers. Q62192; O88188: Ly86; NbExp=5; IntAct=EBI-79487, EBI-79494; Cell membrane; Single-pass type I membrane protein. B-lymphocytes and spleen. Not detected in thymus, kidney, muscle, heart, brain or liver. Belongs to the Toll-like receptor family. B cell proliferation involved in immune response immune system process protein binding extracellular space plasma membrane inflammatory response membrane integral component of membrane extracellular matrix positive regulation of lipopolysaccharide-mediated signaling pathway innate immune response cellular response to lipopolysaccharide uc007rry.1 uc007rry.2 uc007rry.3 
ENSMUST00000022135.15 Ak6 ENSMUST00000022135.15 adenylate kinase 6 (from RefSeq NM_027592.3) Cinap ENSMUST00000022135.1 ENSMUST00000022135.10 ENSMUST00000022135.11 ENSMUST00000022135.12 ENSMUST00000022135.13 ENSMUST00000022135.14 ENSMUST00000022135.2 ENSMUST00000022135.3 ENSMUST00000022135.4 ENSMUST00000022135.5 ENSMUST00000022135.6 ENSMUST00000022135.7 ENSMUST00000022135.8 ENSMUST00000022135.9 KAD6_MOUSE NM_027592 Q8VCP8 uc007rrg.1 uc007rrg.2 uc007rrg.3 uc007rrg.4 uc007rrg.5 Broad-specificity nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. May have a role in nuclear energy homeostasis. Has also ATPase activity. May be involved in regulation of Cajal body (CB) formation. Reaction=AMP + ATP = 2 ADP; Xref=Rhea:RHEA:12973, ChEBI:CHEBI:30616, ChEBI:CHEBI:456215, ChEBI:CHEBI:456216; EC=2.7.4.3; Evidence=; Monomer and homodimer. Interacts with COIL (via C-terminus). Nucleus, nucleoplasm cleus, Cajal body Note=Displays widespread diffuse nucleoplasmic distribution but not detected in nucleoli. Detected in Cajal bodies but not in all cells. Belongs to the adenylate kinase family. AK6 subfamily. AK6 and TAF9 were initially considered as products of the same gene since they share two exons. However, they are translated from different initiation codons and reading frames and encode unrelated proteins. This arrangement is conserved in some mammalian species. nucleotide binding adenylate kinase activity ATP binding nucleus nucleoplasm cytoplasm cytosol Cajal body kinase activity phosphorylation transferase activity ATPase activity nucleoside monophosphate phosphorylation nucleolus uc007rrg.1 uc007rrg.2 uc007rrg.3 uc007rrg.4 uc007rrg.5 
ENSMUST00000022136.14 Rad17 ENSMUST00000022136.14 RAD17 checkpoint clamp loader component, transcript variant 1 (from RefSeq NM_011233.3) ENSMUST00000022136.1 ENSMUST00000022136.10 ENSMUST00000022136.11 ENSMUST00000022136.12 ENSMUST00000022136.13 ENSMUST00000022136.2 ENSMUST00000022136.3 ENSMUST00000022136.4 ENSMUST00000022136.5 ENSMUST00000022136.6 ENSMUST00000022136.7 ENSMUST00000022136.8 ENSMUST00000022136.9 NM_011233 O88934 O89024 Q6NXW6 RAD17_MOUSE uc007rrd.1 uc007rrd.2 uc007rrd.3 uc007rrd.4 Essential for sustained cell growth, maintenance of chromosomal stability, and ATR-dependent checkpoint activation upon DNA damage (By similarity). Has a weak ATPase activity required for binding to chromatin (By similarity). Participates in the recruitment of the 9- 1-1 (RAD1-RAD9-HUS1) complex and RHNO1 onto chromatin, and in CHEK1 activation (By similarity). May also serve as a sensor of DNA replication progression, and may be involved in homologous recombination (PubMed:15297881). Part of a DNA-binding complex containing RFC2, RFC3, RFC4 and RFC5. Interacts with RAD1 and RAD9 within the 9-1-1 (RAD1-RAD9-HUS1) complex. Interacts with RAD9B, POLE, SNU13 and MCM7. DNA damage promotes interaction with ATR or ATM and disrupts interaction with the 9-1-1 (RAD1-RAD9-HUS1) complex. Nucleus Note=Phosphorylated form redistributes to discrete nuclear foci upon DNA damage. Ubiquitous at low levels. Highly expressed in testis, where it is expressed in spermatogonia, spermatocytes and spermatids, but absent in mature spermatozoa (at protein level). Phosphorylated. Phosphorylation on Ser-647 and Ser-657 is cell cycle-regulated, enhanced by genotoxic stress, and required for activation of checkpoint signaling (PubMed:11687627, PubMed:14500819, PubMed:17376776). Phosphorylation is mediated by ATR upon UV or replication arrest, whereas it may be mediated both by ATR and ATM upon ionizing radiation (By similarity). Phosphorylation on both sites is required for interaction with RAD1 but dispensable for interaction with RFC3 or RFC4 (By similarity). Mice show numerous defects in embryonic development, starting at E8.5. Belongs to the rad17/RAD24 family. DNA damage checkpoint nucleotide binding chromosome, telomeric region nuclear chromatin chromatin binding DNA clamp loader activity ATP binding nucleus nucleoplasm nucleolus DNA repair cellular response to DNA damage stimulus cell cycle mitotic cell cycle checkpoint multicellular organism development negative regulation of DNA replication Rad17 RFC-like complex mitotic DNA replication checkpoint regulation of phosphorylation uc007rrd.1 uc007rrd.2 uc007rrd.3 uc007rrd.4 
ENSMUST00000022137.14 Marveld2 ENSMUST00000022137.14 MARVEL (membrane-associating) domain containing 2, transcript variant 1 (from RefSeq NM_001038602.4) ENSMUST00000022137.1 ENSMUST00000022137.10 ENSMUST00000022137.11 ENSMUST00000022137.12 ENSMUST00000022137.13 ENSMUST00000022137.2 ENSMUST00000022137.3 ENSMUST00000022137.4 ENSMUST00000022137.5 ENSMUST00000022137.6 ENSMUST00000022137.7 ENSMUST00000022137.8 ENSMUST00000022137.9 MALD2_MOUSE Marveld2 Mrvldc2 NM_001038602 Q3UZP0 Q80UJ4 Q99LE8 Tric uc007rrb.1 uc007rrb.2 uc007rrb.3 Plays a role in the formation of tricellular tight junctions and of epithelial barriers (PubMed:16365161, PubMed:21245199). Required for normal hearing via its role in the separation of the endolymphatic and perilymphatic spaces of the organ of Corti in the inner ear, and for normal survival of hair cells in the organ of Corti (PubMed:26677943). Interacts with TJP1. Interacts with the ubiquitin ligase ITCH. Interacts (via C-terminal cytoplasmic domain) with LSR (via the cytoplasmic domain), ILDR1 and ILDR2; the interaction is required to recruit MARVELD2 to tricellular contacts (PubMed:21245199, PubMed:23239027). Cell membrane ulti-pass membrane protein Cell junction, tight junction te=Found at tricellular contacts. Detected in small intestine, stomach and kidney, in epithelial cells (PubMed:16365161). Detected in pancreas, retina and lung, and in stria vascularis, utricle and the organ of Conti in the inner ear (at protein level) (PubMed:26677943, PubMed:17186462). Predominantly detected in small intestine, lung and kidney, with lower levels in liver, testis and brain (PubMed:16365161). In colon, expressed in the entire crypts (PubMed:23239027). Phosphorylated. Ubiquitinated by ITCH; but this ubiquitination does not lead to proteasomal degradation. No visible phenotype at birth. Mutant mice have normal gait and equilibrium and are fertile. They display severe and rapidly progressing hearing loss already 14 days after birth, and completely lack response to a 90 dB sound 21 days after birth. Endocochlear potential and paracellular permeability in the stria vascularis are not affected. The arrangement of inner and outer hair cells in the organ of Corti appears normal at 12 days after birth, but outer hair cells and inner hair cells have disappeared by 21 days after birth. Hair cells survive on cochlear explants (in vitro), suggesting that hair cell degeneration is due to K(+) leakage from the endolymph to the perilymph. Belongs to the ELL/occludin family. Sequence=AAH49919.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; molecular_function cytoplasm plasma membrane bicellular tight junction sensory perception of sound membrane integral component of membrane basolateral plasma membrane apical plasma membrane cell junction cytoplasmic vesicle paranodal junction Schmidt-Lanterman incisure cell-cell junction organization establishment of endothelial barrier tricellular tight junction bicellular tight junction assembly uc007rrb.1 uc007rrb.2 uc007rrb.3 
ENSMUST00000022147.15 Smn1 ENSMUST00000022147.15 survival motor neuron 1, transcript variant 1 (from RefSeq NM_011420.2) ENSMUST00000022147.1 ENSMUST00000022147.10 ENSMUST00000022147.11 ENSMUST00000022147.12 ENSMUST00000022147.13 ENSMUST00000022147.14 ENSMUST00000022147.2 ENSMUST00000022147.3 ENSMUST00000022147.4 ENSMUST00000022147.5 ENSMUST00000022147.6 ENSMUST00000022147.7 ENSMUST00000022147.8 ENSMUST00000022147.9 NM_011420 Q549F9 Q549F9_MOUSE Smn Smn1 uc007rqh.1 uc007rqh.2 uc007rqh.3 Cell projection, axon Cell projection, neuron projection Cytoplasm, myofibril, sarcomere, Z line Cytoplasmic granule Nucleus, Cajal body Nucleus, gem Perikaryon Belongs to the SMN family. RNA binding nucleus cytoplasm mRNA processing uc007rqh.1 uc007rqh.2 uc007rqh.3 
ENSMUST00000022148.7 Mccc2 ENSMUST00000022148.7 methylcrotonoyl-Coenzyme A carboxylase 2 (beta) (from RefSeq NM_030026.2) ENSMUST00000022148.1 ENSMUST00000022148.2 ENSMUST00000022148.3 ENSMUST00000022148.4 ENSMUST00000022148.5 ENSMUST00000022148.6 MCCB_MOUSE NM_030026 Q3ULD5 Q3UPS6 uc007rpz.1 uc007rpz.2 uc007rpz.3 Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3- methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism. Reaction=3-methyl-(2E)-butenoyl-CoA + ATP + hydrogencarbonate = 3- methyl-(2E)-glutaconyl-CoA + ADP + H(+) + phosphate; Xref=Rhea:RHEA:13589, ChEBI:CHEBI:15378, ChEBI:CHEBI:17544, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57344, ChEBI:CHEBI:57346, ChEBI:CHEBI:456216; EC=6.4.1.4; Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy- 3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 2/3. Probably a dodecamer composed of six biotin-containing alpha subunits (MCCC1) and six beta (MCCC2) subunits. Mitochondrion matrix Belongs to the AccD/PCCB family. nucleotide binding methylcrotonoyl-CoA carboxylase activity ATP binding mitochondrion mitochondrial matrix leucine catabolic process coenzyme A metabolic process ligase activity methylcrotonoyl-CoA carboxylase complex uc007rpz.1 uc007rpz.2 uc007rpz.3 
ENSMUST00000022153.8 Ptcd2 ENSMUST00000022153.8 pentatricopeptide repeat domain 2 (from RefSeq NM_026873.2) ENSMUST00000022153.1 ENSMUST00000022153.2 ENSMUST00000022153.3 ENSMUST00000022153.4 ENSMUST00000022153.5 ENSMUST00000022153.6 ENSMUST00000022153.7 NM_026873 PTCD2_MOUSE Q8R3K3 Q91VG3 Q9D0S7 uc007rpm.1 uc007rpm.2 uc007rpm.3 Involved in mitochondrial RNA maturation and mitochondrial respiratory chain function. Mitochondrion High expression in heart and liver and low expression in kidney, brain and testis. Deficient mice shown deficiency of the third complex of the respiratory chain that caused profound ultrastructural changes in the heart. The outer layers of ventricular cardiomyocytes appeared to be infiltrated with macrovesicular fat deposits, having the appearance of adipocytes. Belongs to the PTCD2 family. Sequence=AAH16563.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential vector sequence.; Evidence=; Sequence=BAB23336.1; Type=Frameshift; Evidence=; kidney development liver development mitochondrion mRNA processing mitochondrion organization multicellular organism development heart development regulation of gene expression muscle fiber development regulation of mRNA processing ventricular cardiac muscle tissue morphogenesis uc007rpm.1 uc007rpm.2 uc007rpm.3 
ENSMUST00000022164.16 Ankra2 ENSMUST00000022164.16 ankyrin repeat family A member 2, transcript variant 4 (from RefSeq NM_023472.2) ANRA2_MOUSE Ankra ENSMUST00000022164.1 ENSMUST00000022164.10 ENSMUST00000022164.11 ENSMUST00000022164.12 ENSMUST00000022164.13 ENSMUST00000022164.14 ENSMUST00000022164.15 ENSMUST00000022164.2 ENSMUST00000022164.3 ENSMUST00000022164.4 ENSMUST00000022164.5 ENSMUST00000022164.6 ENSMUST00000022164.7 ENSMUST00000022164.8 ENSMUST00000022164.9 NM_023472 Q99PE2 uc007ror.1 uc007ror.2 uc007ror.3 uc007ror.4 May regulate the interaction between the 3M complex and the histone deacetylases HDAC4 and HDAC5 (By similarity). May also regulate LRP2/megalin (PubMed:11095640). Interacts (via ANK repeats) with CCDC8 (via PxLPxI/L motif); mediates the interaction with the 3M complex which is composed of CCDC8, CUL7 and OBSL1. Interacts (via ANK repeats) with HDAC4 (via PxLPxI/L motif). Interacts (via ANK repeats) with HDAC5 (via PxLPxI/L motif) (By similarity). Interacts (via ANK repeats) with LRP2/megalin (via PxLPxI/L motif) (PubMed:11095640). Interacts (via ANK repeats) with RFX7 (via PxLPxI/L motif) (By similarity). Interacts with AHRR (PubMed:17949687). Interacts with NEK6 (By similarity). Cytoplasm, cytoskeleton Membrane ; Peripheral membrane protein The ankyrin repeats, mainly ANK 2, ANK 3 and ANK 4, mediate interaction with a wide array of PxLPxI/L motif-containing proteins including HDAC4 and LRP2. The PxLPxI/L motif of interactors can contain a Ser or a Thr residue in position 2, which phosphorylation prevents the interaction with ANKRA2. protein binding nucleus cytoplasm cytosol cytoskeleton membrane protein kinase binding ubiquitin protein ligase binding macromolecular complex histone deacetylase binding regulation of protein complex assembly low-density lipoprotein particle receptor binding 3M complex uc007ror.1 uc007ror.2 uc007ror.3 uc007ror.4 
ENSMUST00000022169.10 Hexb ENSMUST00000022169.10 hexosaminidase B (from RefSeq NM_010422.2) ENSMUST00000022169.1 ENSMUST00000022169.2 ENSMUST00000022169.3 ENSMUST00000022169.4 ENSMUST00000022169.5 ENSMUST00000022169.6 ENSMUST00000022169.7 ENSMUST00000022169.8 ENSMUST00000022169.9 Hexb NM_010422 Q3TXR9 Q3TXR9_MOUSE uc007roc.1 uc007roc.2 uc007roc.3 Reaction=H2O + N-acetyl-beta-D-6-sulfogalactosaminyl-(1->4)-alpha-L- iduronyl-(1->3)-N-acetyl-D-6-sulfogalactosamine = alpha-L-iduronyl- (1->3)-N-acetyl-D-6-sulfogalactosamine + N-acetyl-D-6- sulfogalactosamine; Xref=Rhea:RHEA:64384, ChEBI:CHEBI:15377, ChEBI:CHEBI:152567, ChEBI:CHEBI:152568, ChEBI:CHEBI:153064; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:64385; Evidence=; Reaction=H2O + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-3- sulfogalactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide = a beta-D- 3-sulfogalactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide + N- acetyl-beta-D-galactosamine; Xref=Rhea:RHEA:48276, ChEBI:CHEBI:15377, ChEBI:CHEBI:28497, ChEBI:CHEBI:90163, ChEBI:CHEBI:90164; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48277; Evidence=; Reaction=Hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides.; EC=3.2.1.52; Evidence= Reaction=beta-D-GalNAc-(1->4)-alpha-L-IdoA-(1->3)-beta-D-GalNAc-4- sulfate-(1->4)-alpha-L-IdoA-(1->3)-D-GalNAc-4-sulfate + H2O = alpha- L-IdoA-(1->3)-beta-D-GalNAc-4-sulfate-(1->4)-alpha-L-IdoA-(1->3)-D- GalNAc-4-sulfate + N-acetyl-D-galactosamine; Xref=Rhea:RHEA:64372, ChEBI:CHEBI:15377, ChEBI:CHEBI:28037, ChEBI:CHEBI:152565, ChEBI:CHEBI:152566; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:64373; Evidence=; Reaction=a ganglioside GM2 (d18:1(4E)) + H2O = a ganglioside GM3 (d18:1(4E)) + N-acetyl-beta-D-galactosamine; Xref=Rhea:RHEA:47940, ChEBI:CHEBI:15377, ChEBI:CHEBI:28497, ChEBI:CHEBI:60065, ChEBI:CHEBI:71502; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47941; Evidence=; Reaction=a ganglioside GM2 + H2O = a ganglioside GM3 + N-acetyl-beta-D- galactosamine; Xref=Rhea:RHEA:47968, ChEBI:CHEBI:15377, ChEBI:CHEBI:28497, ChEBI:CHEBI:79210, ChEBI:CHEBI:79218; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:47969; Evidence=; Cytoplasmic vesicle, secretory vesicle, Cortical granule Lysosome Belongs to the glycosyl hydrolase 20 family. hydrolase activity, hydrolyzing O-glycosyl compounds beta-N-acetylhexosaminidase activity carbohydrate metabolic process metabolic process acetylglucosaminyltransferase activity hydrolase activity hydrolase activity, acting on glycosyl bonds azurophil granule protein homodimerization activity protein heterodimerization activity uc007roc.1 uc007roc.2 uc007roc.3 
ENSMUST00000022170.8 Gfm2 ENSMUST00000022170.8 G elongation factor, mitochondrial 2, transcript variant 5 (from RefSeq NM_001271465.1) B2RR55 ENSMUST00000022170.1 ENSMUST00000022170.2 ENSMUST00000022170.3 ENSMUST00000022170.4 ENSMUST00000022170.5 ENSMUST00000022170.6 ENSMUST00000022170.7 Efg2 NM_001271465 Q8BXS5 Q8R2Q4 RRF2M_MOUSE uc011zdh.1 uc011zdh.2 uc011zdh.3 uc011zdh.4 Mitochondrial GTPase that mediates the disassembly of ribosomes from messenger RNA at the termination of mitochondrial protein biosynthesis. Acts in collaboration with MRRF. GTP hydrolysis follows the ribosome disassembly and probably occurs on the ribosome large subunit. Not involved in the GTP-dependent ribosomal translocation step during translation elongation. Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19670; Evidence=; Mitochondrion Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8R2Q4-1; Sequence=Displayed; Name=2; IsoId=Q8R2Q4-2; Sequence=VSP_038195; Name=3; IsoId=Q8R2Q4-3; Sequence=VSP_038196; This protein may be expected to contain an N-terminal transit peptide but none has been predicted. Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily. nucleotide binding translation elongation factor activity GTPase activity GTP binding mitochondrion translation translational elongation mitochondrial translation ribosome disassembly uc011zdh.1 uc011zdh.2 uc011zdh.3 uc011zdh.4 
ENSMUST00000022172.12 Polk ENSMUST00000022172.12 polymerase (DNA directed), kappa, transcript variant 1 (from RefSeq NR_144622.1) Dinb1 ENSMUST00000022172.1 ENSMUST00000022172.10 ENSMUST00000022172.11 ENSMUST00000022172.2 ENSMUST00000022172.3 ENSMUST00000022172.4 ENSMUST00000022172.5 ENSMUST00000022172.6 ENSMUST00000022172.7 ENSMUST00000022172.8 ENSMUST00000022172.9 NR_144622 POLK_MOUSE Q7TPY7 Q9QUG2 uc007rne.1 uc007rne.2 uc007rne.3 DNA polymerase specifically involved in DNA repair. Plays an important role in translesion synthesis, where the normal high-fidelity DNA polymerases cannot proceed and DNA synthesis stalls (PubMed:12432099). Depending on the context, it inserts the correct base, but causes frequent base transitions, transversions and frameshifts. Lacks 3'-5' proofreading exonuclease activity. Forms a Schiff base with 5'-deoxyribose phosphate at abasic sites, but does not have lyase activity (By similarity). Reaction=a 2'-deoxyribonucleoside 5'-triphosphate + DNA(n) = diphosphate + DNA(n+1); Xref=Rhea:RHEA:22508, Rhea:RHEA-COMP:17339, Rhea:RHEA-COMP:17340, ChEBI:CHEBI:33019, ChEBI:CHEBI:61560, ChEBI:CHEBI:173112; EC=2.7.7.7; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Divalent metal cations. Prefers Mg(2+), but can also use Mn(2+). ; Interacts with PCNA (By similarity). Interacts with REV1 (PubMed:14657033). Nucleus Note=Detected throughout the nucleus and at replication foci. Recruited to DNA damage sites in response to ultraviolet irradiation: N6- methyladenosine (m6A)-containing mRNAs accumulate in the vicinity of DNA damage sites and their presence is required to recruit POLK. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9QUG2-1; Sequence=Displayed; Name=2; IsoId=Q9QUG2-2; Sequence=VSP_012807, VSP_012808; Detected at low levels in heart, brain, lung, liver, kidney and testis. The catalytic core consists of fingers, palm and thumb subdomains, but the fingers and thumb subdomains are much smaller than in high-fidelity polymerases; residues from five sequence motifs of the Y-family cluster around an active site cleft that can accommodate DNA and nucleotide substrates with relaxed geometric constraints, with consequently higher rates of misincorporation and low processivity. Belongs to the DNA polymerase type-Y family. DNA binding damaged DNA binding DNA-directed DNA polymerase activity protein binding nucleus nucleoplasm DNA replication DNA repair nucleotide-excision repair, DNA gap filling cellular response to DNA damage stimulus nuclear body transferase activity nucleotidyltransferase activity translesion synthesis cellular response to UV error-prone translesion synthesis metal ion binding DNA biosynthetic process uc007rne.1 uc007rne.2 uc007rne.3 
ENSMUST00000022176.15 Hmgcr ENSMUST00000022176.15 3-hydroxy-3-methylglutaryl-Coenzyme A reductase, transcript variant 1 (from RefSeq NM_008255.2) ENSMUST00000022176.1 ENSMUST00000022176.10 ENSMUST00000022176.11 ENSMUST00000022176.12 ENSMUST00000022176.13 ENSMUST00000022176.14 ENSMUST00000022176.2 ENSMUST00000022176.3 ENSMUST00000022176.4 ENSMUST00000022176.5 ENSMUST00000022176.6 ENSMUST00000022176.7 ENSMUST00000022176.8 ENSMUST00000022176.9 G3X8U5 HMDH_MOUSE NM_008255 Q01237 Q5U4I2 uc007rnm.1 uc007rnm.2 uc007rnm.3 uc007rnm.4 uc007rnm.5 Catalyzes the conversion of (3S)-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to mevalonic acid, the rate-limiting step in the synthesis of cholesterol and other isoprenoids, thus plays a critical role in cellular cholesterol homeostasis. Reaction=(R)-mevalonate + CoA + 2 NADP(+) = (3S)-hydroxy-3- methylglutaryl-CoA + 2 H(+) + 2 NADPH; Xref=Rhea:RHEA:15989, ChEBI:CHEBI:15378, ChEBI:CHEBI:36464, ChEBI:CHEBI:43074, ChEBI:CHEBI:57287, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.34; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:15991; Evidence=; Regulated by a negative feedback mechanism through sterols and non-sterol metabolites derived from mevalonate (By similarity). Phosphorylation at Ser-871 down-regulates the catalytic activity (By similarity). Metabolic intermediate biosynthesis; (R)-mevalonate biosynthesis; (R)-mevalonate from acetyl-CoA: step 3/3. Homotetramer. Homodimer. Interacts (via its SSD) with INSIG1; the interaction, accelerated by sterols, leads to the recruitment of HMGCR to AMFR/gp78 for its ubiquitination by the sterol-mediated ERAD pathway. Interacts with UBIAD1. Endoplasmic reticulum membrane ; Multi-pass membrane protein Peroxisome membrane ; Multi-pass membrane protein Undergoes sterol-mediated ubiquitination and ER-associated degradation (ERAD). Accumulation of sterols in the endoplasmic reticulum (ER) membrane, triggers binding of the reductase to the ER membrane protein INSIG1 or INSIG2. The INSIG1 binding leads to the recruitment of the ubiquitin ligase, AMFR/gp78, RNF139 or RNF145, initiating ubiquitination of the reductase. The ubiquitinated reductase is then extracted from the ER membrane and delivered to cytosolic 26S proteosomes by a mechanism probably mediated by the ATPase Valosin- containing protein VCP/p97. The INSIG2-binding leads to the recruitment of the ubiquitin ligase RNF139, initiating ubiquitination of the reductase. Lys-248 is the main site of ubiquitination. Ubiquitination is enhanced by the presence of a geranylgeranylated protein. N-glycosylated. Deglycosylated by NGLY1 on release from the endoplasmic reticulum (ER) in a sterol-mediated manner. Phosphorylated. Phosphorylation at Ser-871 reduces the catalytic activity. Homozygous knockout mice show early embryonic lethality. Belongs to the HMG-CoA reductase family. hydroxymethylglutaryl-CoA reductase (NADPH) activity peroxisomal membrane endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process steroid biosynthetic process cholesterol biosynthetic process ubiquinone metabolic process aging response to nutrient steroid metabolic process cholesterol metabolic process positive regulation of cell proliferation isoprenoid biosynthetic process visual learning negative regulation of striated muscle cell apoptotic process positive regulation of cardiac muscle cell apoptotic process coenzyme A metabolic process membrane integral component of membrane sterol biosynthetic process oxidoreductase activity oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor positive regulation of stress-activated MAPK cascade negative regulation of protein catabolic process hydroxymethylglutaryl-CoA reductase activity protein homodimerization activity negative regulation of apoptotic process intracellular membrane-bounded organelle negative regulation of MAP kinase activity myoblast differentiation response to ethanol positive regulation of skeletal muscle tissue development positive regulation of smooth muscle cell proliferation NADP binding coenzyme binding negative regulation of protein secretion protein tetramerization protein phosphatase 2A binding oxidation-reduction process negative regulation of wound healing negative regulation of insulin secretion involved in cellular response to glucose stimulus positive regulation of ERK1 and ERK2 cascade NADPH binding negative regulation of beta-amyloid clearance uc007rnm.1 uc007rnm.2 uc007rnm.3 uc007rnm.4 uc007rnm.5 
ENSMUST00000022182.5 F2rl2 ENSMUST00000022182.5 coagulation factor II thrombin receptor like 2 (from RefSeq NM_010170.4) B9EIT2 ENSMUST00000022182.1 ENSMUST00000022182.2 ENSMUST00000022182.3 ENSMUST00000022182.4 NM_010170 O08675 PAR3_MOUSE Par3 Q3UXV3 uc007rmq.1 uc007rmq.2 uc007rmq.3 High affinity receptor for activated thrombin coupled to G proteins that stimulate phosphoinositide hydrolysis. May play a role in platelets activation. Interacts with INSC/inscuteable and GPSM2. Cell membrane; Multi-pass membrane protein. A proteolytic cleavage generates a new N-terminus that functions as a tethered ligand. Belongs to the G-protein coupled receptor 1 family. G-protein coupled receptor activity plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway blood coagulation hemostasis thrombin-activated receptor activity membrane integral component of membrane apical plasma membrane macromolecular complex positive regulation of Rho protein signal transduction positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway thrombin-activated receptor signaling pathway uc007rmq.1 uc007rmq.2 uc007rmq.3 
ENSMUST00000022185.10 F2rl1 ENSMUST00000022185.10 F2R like trypsin receptor 1 (from RefSeq NM_007974.4) ENSMUST00000022185.1 ENSMUST00000022185.2 ENSMUST00000022185.3 ENSMUST00000022185.4 ENSMUST00000022185.5 ENSMUST00000022185.6 ENSMUST00000022185.7 ENSMUST00000022185.8 ENSMUST00000022185.9 F2rl1 NM_007974 Q3TU81 Q3TU81_MOUSE uc011zda.1 uc011zda.2 uc011zda.3 uc011zda.4 uc011zda.5 Cell membrane ; Multi-pass membrane protein Membrane ; Multi-pass membrane protein positive regulation of leukocyte chemotaxis positive regulation of cytokine secretion involved in immune response positive regulation of glomerular filtration G-protein coupled receptor activity early endosome plasma membrane integral component of plasma membrane G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration blood coagulation negative regulation of tumor necrosis factor-mediated signaling pathway thrombin-activated receptor activity membrane integral component of membrane regulation of blood coagulation positive regulation of actin filament depolymerization positive regulation of superoxide anion generation positive regulation of toll-like receptor 2 signaling pathway negative regulation of toll-like receptor 3 signaling pathway positive regulation of toll-like receptor 3 signaling pathway positive regulation of toll-like receptor 4 signaling pathway positive regulation of Rho protein signal transduction chemokine (C-C motif) ligand 2 secretion neutrophil activation regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of eosinophil degranulation positive regulation of GTPase activity cell-cell junction maintenance positive regulation of transcription from RNA polymerase II promoter regulation of JNK cascade negative regulation of JNK cascade positive regulation of JNK cascade interleukin-1 beta secretion leukocyte migration positive regulation of positive chemotaxis defense response to virus positive regulation of phagocytosis, engulfment establishment of endothelial barrier positive regulation of ERK1 and ERK2 cascade thrombin-activated receptor signaling pathway positive regulation of neutrophil mediated killing of gram-negative bacterium interleukin-10 secretion chemokine secretion negative regulation of chemokine secretion mature conventional dendritic cell differentiation positive regulation of interleukin-8 secretion positive regulation of interleukin-6 secretion uc011zda.1 uc011zda.2 uc011zda.3 uc011zda.4 uc011zda.5 
ENSMUST00000022186.5 S100z ENSMUST00000022186.5 S100 calcium binding protein, zeta (from RefSeq NM_001081159.1) B9EJL3 B9EJL3_MOUSE ENSMUST00000022186.1 ENSMUST00000022186.2 ENSMUST00000022186.3 ENSMUST00000022186.4 NM_001081159 S100z uc007rml.1 uc007rml.2 uc007rml.3 Belongs to the S-100 family. calcium ion binding cellular_component biological_process protein homodimerization activity metal ion binding uc007rml.1 uc007rml.2 uc007rml.3 
ENSMUST00000022189.9 Aggf1 ENSMUST00000022189.9 angiogenic factor with G patch and FHA domains 1 (from RefSeq NM_025630.3) AGGF1_MOUSE ENSMUST00000022189.1 ENSMUST00000022189.2 ENSMUST00000022189.3 ENSMUST00000022189.4 ENSMUST00000022189.5 ENSMUST00000022189.6 ENSMUST00000022189.7 ENSMUST00000022189.8 NM_025630 Q7TN31 Q8R2S6 Q9CQR9 Q9CU87 Q9D768 Vg5q uc007rmi.1 uc007rmi.2 uc007rmi.3 uc007rmi.4 Promotes angiogenesis and the proliferation of endothelial cells. Able to bind to endothelial cells and promote cell proliferation, suggesting that it may act in an autocrine fashion (By similarity). Interacts with the secreted angiogenic factor TNFSF12. Cytoplasm Secreted Note=Cytoplasmic in microvascular endothelial cells. Upon angiogenesis, when endothelial cell tube formation is initiated, it is secreted (By similarity). Sequence=AAH27286.1; Type=Erroneous initiation; Evidence=; Sequence=AK009533; Type=Frameshift; Evidence=; Sequence=AK017248; Type=Frameshift; Evidence=; angiogenesis positive regulation of endothelial cell proliferation nucleic acid binding extracellular region cytoplasm cell adhesion multicellular organism development cell differentiation positive regulation of angiogenesis perinuclear region of cytoplasm uc007rmi.1 uc007rmi.2 uc007rmi.3 uc007rmi.4 
ENSMUST00000022195.13 Otp ENSMUST00000022195.13 orthopedia homeobox (from RefSeq NM_011021.5) ENSMUST00000022195.1 ENSMUST00000022195.10 ENSMUST00000022195.11 ENSMUST00000022195.12 ENSMUST00000022195.2 ENSMUST00000022195.3 ENSMUST00000022195.4 ENSMUST00000022195.5 ENSMUST00000022195.6 ENSMUST00000022195.7 ENSMUST00000022195.8 ENSMUST00000022195.9 NM_011021 O09113 OTP_MOUSE uc007rly.1 uc007rly.2 uc007rly.3 Involved in the specification of hypothalamic neuroendocrine cells. Specifically required for the specification of diencephalic dopaminergic neurons of the A11 group. Nucleus Restricted regions of the developing forebrain, hindbrain, and spinal cord. First detected at 9.5 dpc in restricted domains of the developing diencephalon and along all the hindbrain and the spinal cord. At 10 dpc, found in the medioventral region of the developing spinal cord. At 12.5 dpc, expressed in restricted zones in the preoptic, postoptic and dorsoposterior regions. At later stages, in the intermedial region of the lateral horn, in the optic tract, the presumptive stria terminalis, the amygdaloid complex of the lateral horn in the spinal cord. Death at birth or within the first 2 postnatal days due to defects in neuroendocrine hypothalamus differentiation. Belongs to the paired homeobox family. Bicoid subfamily. positive regulation of neuroblast proliferation DNA binding nucleus regulation of transcription, DNA-templated multicellular organism development nervous system development forebrain neuron differentiation hypothalamus cell differentiation neurohypophysis development cell differentiation sequence-specific DNA binding uc007rly.1 uc007rly.2 uc007rly.3 
ENSMUST00000022196.5 Ap3b1 ENSMUST00000022196.5 adaptor-related protein complex 3, beta 1 subunit (from RefSeq NM_009680.3) AP3B1_MOUSE E9QQ08 ENSMUST00000022196.1 ENSMUST00000022196.2 ENSMUST00000022196.3 ENSMUST00000022196.4 NM_009680 Q91YR4 Q9Z1T1 uc007rlv.1 uc007rlv.2 uc007rlv.3 uc007rlv.4 Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. Adaptor protein complex 3 (AP-3) is a heterotetramer composed of two large adaptins (delta-type subunit AP3D1 and beta-type subunit AP3B1 or AP3B2), a medium adaptin (mu-type subunit AP3M1 or AP3M2) and a small adaptin (sigma-type subunit APS1 or AP3S2) (PubMed:21998198). AP-3 associates with the BLOC-1 complex (PubMed:21998198). Interacts with KIF3A; interaction is direct; interaction is impaired by pyrophosphorylation of AP3B1 (By similarity). Cytoplasmic vesicle, clathrin-coated vesicle membrane ; Peripheral membrane protein ; Cytoplasmic side Golgi apparatus Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. Ubiquitously expressed. Phosphorylated on serine residues. Pyrophosphorylated by 5-diphosphoinositol pentakisphosphate (5- IP7) (PubMed:17873058). Pyrophosphorylation impairs interaction with KIF3A (By similarity). Serine pyrophosphorylation is achieved by Mg(2+)-dependent, but enzyme independent transfer of a beta-phosphate from a inositol pyrophosphate to a pre-phosphorylated serine residue (PubMed:17873058). Note=Defects in Ap3b1 are the cause of the autosomal recessive phenotype 'pearl' (pe). Pearl mice exhibit hypopigmentation, lysosomal secretion abnormalities, and platelet-dense granules with reduced levels of adenine nucleotides and serotonin. The changes in platelets lead to prolonged bleeding. Additionally, pearl mice exhibit reduced sensitivity in the dark-adapted state (PubMed:9931340). Belongs to the adaptor complexes large subunit family. Golgi apparatus trans-Golgi network protein targeting to lysosome zinc II ion transport intracellular protein transport blood coagulation anterograde axonal transport protein transport membrane synaptic vesicle budding from endosome vesicle-mediated transport antigen processing and presentation protein phosphatase binding membrane coat AP-3 adaptor complex clathrin adaptor complex clathrin-coated vesicle membrane GTP-dependent protein binding cytoplasmic vesicle melanosome organization synapse antigen processing and presentation, exogenous lipid antigen via MHC class Ib anterograde synaptic vesicle transport positive regulation of NK T cell differentiation axon cytoplasm uc007rlv.1 uc007rlv.2 uc007rlv.3 uc007rlv.4 
ENSMUST00000022197.15 Scamp1 ENSMUST00000022197.15 secretory carrier membrane protein 1, transcript variant 1 (from RefSeq NM_029153.1) ENSMUST00000022197.1 ENSMUST00000022197.10 ENSMUST00000022197.11 ENSMUST00000022197.12 ENSMUST00000022197.13 ENSMUST00000022197.14 ENSMUST00000022197.2 ENSMUST00000022197.3 ENSMUST00000022197.4 ENSMUST00000022197.5 ENSMUST00000022197.6 ENSMUST00000022197.7 ENSMUST00000022197.8 ENSMUST00000022197.9 NM_029153 Q8K021 SCAM1_MOUSE uc007rls.1 uc007rls.2 uc007rls.3 Functions in post-Golgi recycling pathways. Acts as a recycling carrier to the cell surface (By similarity). Interacts with SYNRG, ITSN1 and SLC9A7. Golgi apparatus, trans-Golgi network membrane ; Multi-pass membrane protein Recycling endosome membrane ; Multi-pass membrane protein Belongs to the SCAMP family. Golgi membrane protein binding endosome Golgi apparatus trans-Golgi network exocytosis endocytosis synaptic vesicle protein transport membrane integral component of membrane protein domain specific binding clathrin-coated vesicle integral component of synaptic vesicle membrane cytoplasmic vesicle membrane synaptic vesicle membrane trans-Golgi network membrane zymogen granule membrane synapse recycling endosome membrane uc007rls.1 uc007rls.2 uc007rls.3 
ENSMUST00000022203.10 Dimt1 ENSMUST00000022203.10 DIM1 rRNA methyltransferase and ribosome maturation factor (from RefSeq NM_025447.4) DIM1_MOUSE Dimt1l ENSMUST00000022203.1 ENSMUST00000022203.2 ENSMUST00000022203.3 ENSMUST00000022203.4 ENSMUST00000022203.5 ENSMUST00000022203.6 ENSMUST00000022203.7 ENSMUST00000022203.8 ENSMUST00000022203.9 NM_025447 Q3TTJ5 Q8BVH8 Q9D0D4 uc007rua.1 uc007rua.2 uc007rua.3 uc007rua.4 Specifically dimethylates two adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 18S rRNA in the 40S particle. Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Reaction=adenosine(1779)/adenosine(1780) in 18S rRNA + 4 S-adenosyl-L- methionine = 4 H(+) + N(6)-dimethyladenosine(1779)/N(6)- dimethyladenosine(1780) in 18S rRNA + 4 S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:42780, Rhea:RHEA-COMP:10234, Rhea:RHEA-COMP:10236, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74411, ChEBI:CHEBI:74493; EC=2.1.1.183; Evidence=; Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3. Nucleus, nucleoplasm Nucleus, nucleolus Belongs to the class I-like SAM-binding methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family. Sequence=BAC37166.1; Type=Miscellaneous discrepancy; Note=Introns retention.; Evidence=; rRNA modification rRNA (adenine-N6,N6-)-dimethyltransferase activity RNA binding nucleus nucleoplasm nucleolus mitochondrial matrix cytosol rRNA processing methyltransferase activity rRNA methyltransferase activity transferase activity rRNA methylation methylation 18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity positive regulation of rRNA processing uc007rua.1 uc007rua.2 uc007rua.3 uc007rua.4 
ENSMUST00000022204.16 Kif2a ENSMUST00000022204.16 kinesin family member 2A, transcript variant 6 (from RefSeq NM_001378938.1) ENSMUST00000022204.1 ENSMUST00000022204.10 ENSMUST00000022204.11 ENSMUST00000022204.12 ENSMUST00000022204.13 ENSMUST00000022204.14 ENSMUST00000022204.15 ENSMUST00000022204.2 ENSMUST00000022204.3 ENSMUST00000022204.4 ENSMUST00000022204.5 ENSMUST00000022204.6 ENSMUST00000022204.7 ENSMUST00000022204.8 ENSMUST00000022204.9 KIF2A_MOUSE Kif2 Kns2 NM_001378938 O54744 P28740 Q91W03 uc007rud.1 uc007rud.2 uc007rud.3 uc007rud.4 Plus end-directed microtubule-dependent motor required for normal brain development. May regulate microtubule dynamics during axonal growth. Required for normal progression through mitosis. Required for normal congress of chromosomes at the metaphase plate. Required for normal spindle dynamics during mitosis. Promotes spindle turnover. Implicated in formation of bipolar mitotic spindles. Has microtubule depolymerization activity (By similarity). Interacts with AURKA, PSRC1 and PLK1. Cytoplasm Cytoplasm, cytoskeleton Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle pole Cytoplasm, cytoskeleton, spindle Lysosome Note=Localized to the spindle microtubules and spindle poles from prophase to metaphase. Efficient targeting to spindle microtubules and spindle poles requires the kinase activity of PLK1. Recruited to mitotic spindles by interaction with PSRC1 (By similarity). Associated with lysosomes in NIH3T3 cells. Event=Alternative splicing; Named isoforms=3; Name=3; IsoId=P28740-3; Sequence=Displayed; Name=1; Synonyms=Kif2; IsoId=P28740-1; Sequence=VSP_028377, VSP_028379; Name=2; Synonyms=Kif2-beta; IsoId=P28740-2; Sequence=VSP_028377, VSP_028378; Highest level in lung. High level in ovary, moderate levels in heart, kidney, placenta, skeletal muscle and spleen (at protein level). Pancreas and spleen express a shorter isoform (at protein level). Expressed in the flagellum of elongated spermatids and sperm in the testis lumen (at protein level) (PubMed:24339785). Isoform 1 expressed in neuronal cells. Isoform 2 expressed in astrocytes and fibroblasts. Isoform 1 expressed at low level in 13 dpc embryonic hippocampus, higher level by stage 15 persisting into juvenile and adult stages. Isoform 2 expressed in 13 dpc and 15 dpc embryonic hippocampus declining to very low levels in juvenile and adult neurons. High level of isoform 1 and very low level of isoform 2 in stage 2 and 5 hippocampal neurons in culture. Mice show overextension of collateral branches of developing axons and defects in neuronal migration in the brain. They die within 24 hours of birth. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. MCAK/KIF2 subfamily. nucleotide binding microtubule cytoskeleton organization spindle pole microtubule motor activity ATP binding nucleus nucleolus cytoplasm lysosome centrosome centriole microtubule organizing center spindle cytoskeleton kinesin complex microtubule spindle microtubule microtubule-based movement cell cycle mitotic spindle organization multicellular organism development nervous system development microtubule binding nuclear body ATPase activity protein kinase binding cell differentiation regulation of cell migration cell division mitotic spindle assembly sperm principal piece uc007rud.1 uc007rud.2 uc007rud.3 uc007rud.4 
ENSMUST00000022207.10 Elovl7 ENSMUST00000022207.10 ELOVL fatty acid elongase 7 (from RefSeq NM_029001.5) ELOV7_MOUSE ENSMUST00000022207.1 ENSMUST00000022207.2 ENSMUST00000022207.3 ENSMUST00000022207.4 ENSMUST00000022207.5 ENSMUST00000022207.6 ENSMUST00000022207.7 ENSMUST00000022207.8 ENSMUST00000022207.9 Elovl7 NM_029001 Q8BX38 Q8BYY8 Q9D2Y9 uc007rva.1 uc007rva.2 uc007rva.3 uc007rva.4 uc007rva.5 Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18:3(n-3) acyl-CoAs and C18:3(n-6)-CoAs. Also active toward C20:4-, C18:0-, C18:1-, C18:2- and C16:0-CoAs, and weakly toward C20:0-CoA. Little or no activity toward C22:0-, C24:0-, or C26:0-CoAs. May participate in the production of saturated and polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators. Reaction=a very-long-chain acyl-CoA + H(+) + malonyl-CoA = a very-long- chain 3-oxoacyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:32727, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:90725, ChEBI:CHEBI:90736; EC=2.3.1.199; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:32728; Evidence=; Reaction=eicosanoyl-CoA + H(+) + malonyl-CoA = 3-oxodocosanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:35327, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380, ChEBI:CHEBI:57384, ChEBI:CHEBI:71451; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:35328; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + H(+) + malonyl-CoA = (7Z,10Z,13Z,16Z)-3-oxodocosatetraenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36475, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:57384, ChEBI:CHEBI:73852; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36476; Evidence=; Reaction=(6Z,9Z,12Z)-octadecatrienoyl-CoA + H(+) + malonyl-CoA = (8Z,11Z,14Z)-3-oxoeicosatrienoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:35379, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57363, ChEBI:CHEBI:57384, ChEBI:CHEBI:71481; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:35380; Evidence=; Reaction=(9Z,12Z)-octadecadienoyl-CoA + H(+) + malonyl-CoA = (11Z,14Z)- 3-oxoicosa-11,14-dienoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36503, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:57384, ChEBI:CHEBI:74012; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36504; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + H(+) + malonyl-CoA = (11Z)-3- oxoicosenoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36511, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:57387, ChEBI:CHEBI:74011; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36512; Evidence=; Reaction=H(+) + malonyl-CoA + octadecanoyl-CoA = 3-oxoeicosanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:35319, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:57394, ChEBI:CHEBI:65115; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:35320; Evidence=; Reaction=H(+) + hexadecanoyl-CoA + malonyl-CoA = 3-oxooctadecanoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:35315, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:57384, ChEBI:CHEBI:71407; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:35316; Evidence=; Reaction=(9Z,12Z,15Z)-octadecatrienoyl-CoA + H(+) + malonyl-CoA = (11Z,14Z,17Z)-3-oxoeicosatrienoyl-CoA + CO2 + CoA; Xref=Rhea:RHEA:36523, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:57287, ChEBI:CHEBI:57384, ChEBI:CHEBI:74034, ChEBI:CHEBI:74054; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:36524; Evidence=; Lipid metabolism; fatty acid biosynthesis. Homodimer. Endoplasmic reticulum membrane ; Multi-pass membrane protein The C-terminal di-lysine motif may confer endoplasmic reticulum localization. Belongs to the ELO family. ELOVL7 subfamily. endoplasmic reticulum endoplasmic reticulum membrane lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process unsaturated fatty acid biosynthetic process fatty acid elongase activity membrane integral component of membrane transferase activity fatty acid elongation, saturated fatty acid sphingolipid biosynthetic process integral component of endoplasmic reticulum membrane fatty acid elongation, monounsaturated fatty acid fatty acid elongation, polyunsaturated fatty acid long-chain fatty-acyl-CoA biosynthetic process very long-chain fatty acid biosynthetic process 3-oxo-arachidoyl-CoA synthase activity 3-oxo-cerotoyl-CoA synthase activity 3-oxo-lignoceronyl-CoA synthase activity uc007rva.1 uc007rva.2 uc007rva.3 uc007rva.4 uc007rva.5 
ENSMUST00000022212.9 Plk2 ENSMUST00000022212.9 polo like kinase 2 (from RefSeq NM_152804.2) ENSMUST00000022212.1 ENSMUST00000022212.2 ENSMUST00000022212.3 ENSMUST00000022212.4 ENSMUST00000022212.5 ENSMUST00000022212.6 ENSMUST00000022212.7 ENSMUST00000022212.8 NM_152804 Plk2 Q548A9 Q548A9_MOUSE Snk uc007rvs.1 uc007rvs.2 uc007rvs.3 uc007rvs.4 uc007rvs.5 Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.21; Evidence=; Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. CDC5/Polo subfamily. G1/S transition of mitotic cell cycle nucleotide binding protein kinase activity protein serine/threonine kinase activity ATP binding cytoplasm centrosome centriole protein phosphorylation mitotic spindle organization Ras protein signal transduction positive regulation of autophagy kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation dendrite positive regulation of protein binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process Rap protein signal transduction ATP-dependent protein binding macromolecular complex binding positive regulation of protein catabolic process regulation of centriole replication regulation of synaptic plasticity long-term synaptic potentiation long term synaptic depression negative regulation of dendritic spine development uc007rvs.1 uc007rvs.2 uc007rvs.3 uc007rvs.4 uc007rvs.5 
ENSMUST00000022213.8 Thbs4 ENSMUST00000022213.8 thrombospondin 4 (from RefSeq NM_011582.3) ENSMUST00000022213.1 ENSMUST00000022213.2 ENSMUST00000022213.3 ENSMUST00000022213.4 ENSMUST00000022213.5 ENSMUST00000022213.6 ENSMUST00000022213.7 NM_011582 Q9QYS3 Q9WUE0 Q9Z1T2 TSP4_MOUSE Tsp4 uc007rku.1 uc007rku.2 uc007rku.3 uc007rku.4 Adhesive glycoprotein that mediates cell-to-cell and cell-to- matrix interactions and is involved in various processes including cellular proliferation, migration, adhesion and attachment, inflammatory response to CNS injury, regulation of vascular inflammation and adaptive responses of the heart to pressure overload and in myocardial function and remodeling. Binds to structural extracellular matrix (ECM) proteins and modulates the ECM in response to tissue damage, contributing to cardioprotective and adaptive ECM remodeling. Plays a role in ER stress response, via its interaction with the activating transcription factor 6 alpha (ATF6) which produces adaptive ER stress response factors and protects myocardium from pressure overload. May contribute to spinal presynaptic hypersensitivity and neuropathic pain states after peripheral nerve injury. May play a role in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury in a NOTCH1-dependent manner. Homopentamer; disulfide-linked. Interacts with PTBP3 (By similarity). Interacts (via EGF-like 3; calcium-binding domain) with ATF6 and facilitates its processing, activation and nuclear translocation. Interacts with NOTCH1. Q9Z1T2; F6VAN0: Atf6; NbExp=3; IntAct=EBI-6171531, EBI-6171558; Endoplasmic reticulum Sarcoplasmic reticulum Secreted Secreted, extracellular space Secreted, extracellular space, extracellular matrix Heart. Up-regulated in the heart in response to ischemic injury and pathology (at protein level). Astrocytes; expressed at high levels in subventricular zone (SVZ)-derived astrocytes and at low levels in cortical astrocytes. In response to peripheral nerve injury, significantly up-regulated in the dorsal spinal cord (at protein level). On exposure to acute pressure overload, mice exhibit a marked increase in: heart weight and fibrosis, cardiomyocyte size and number of apoptotic cells in the myocardium, deposition of extracellular matrix (ECM) and levels of interstitial collagens. The increased ECM deposition is accompanied by changes in functional parameters of the heart and decreased vessel density. Mice also show defective induction of the ER stress response in the heart. Do not exhibit peripheral nerve injury-induced behavioral hypersensitivities such as thermal/mechanical hyperalgesia and tactile allodynia but show severe defects in cortical-injury-induced subventricular zone astrogenesis. Belongs to the thrombospondin family. positive regulation of endothelial cell proliferation fibronectin binding integrin binding extracellular matrix structural constituent calcium ion binding protein binding collagen binding extracellular region basement membrane extracellular space endoplasmic reticulum response to unfolded protein cell adhesion signal transduction nervous system development growth factor activity heparin binding negative regulation of angiogenesis sarcoplasmic reticulum extracellular matrix neuromuscular junction regulation of tissue remodeling response to endoplasmic reticulum stress laminin-1 binding behavioral response to pain tissue remodeling neuron projection morphogenesis positive regulation of peptidyl-tyrosine phosphorylation protein homooligomerization myoblast migration positive regulation of cell division endothelial cell-cell adhesion positive regulation of neutrophil chemotaxis uc007rku.1 uc007rku.2 uc007rku.3 uc007rku.4 
ENSMUST00000022217.9 Zfyve16 ENSMUST00000022217.9 zinc finger, FYVE domain containing 16 (from RefSeq NM_173392.4) ENSMUST00000022217.1 ENSMUST00000022217.2 ENSMUST00000022217.3 ENSMUST00000022217.4 ENSMUST00000022217.5 ENSMUST00000022217.6 ENSMUST00000022217.7 ENSMUST00000022217.8 Kiaa0305 NM_173392 Q80U44 Q8BRD2 Q8CG97 ZFY16_MOUSE uc007rkq.1 uc007rkq.2 uc007rkq.3 uc007rkq.4 May be involved in regulating membrane trafficking in the endosomal pathway. Overexpression induces endosome aggregation. Required to target TOM1 to endosomes (By similarity). Interacts (via C-terminus) with TOM1 (via C-terminus); interaction is required to target TOM1 to endosomes (By similarity). Does not interact with TOM1L1 or TOM1L2 (By similarity). Cytoplasm Early endosome membrane ; Peripheral membrane protein Note=Localized to early endosomes. Membrane-associated, probably via its association with phosphatidylinositol 3-phosphate (PI3P) (By similarity). The FYVE-type zinc finger is necessary and sufficient for its localization into early endosomes and mediates the association with PI3P. Sequence=BAC65523.1; Type=Erroneous initiation; Evidence=; 1-phosphatidylinositol binding phosphatidylinositol-3,4,5-trisphosphate binding cytoplasm endosome early endosome cytosol protein targeting to lysosome membrane endosomal transport early endosome membrane intracellular membrane-bounded organelle metal ion binding uc007rkq.1 uc007rkq.2 uc007rkq.3 uc007rkq.4 
ENSMUST00000022218.6 Dhfr ENSMUST00000022218.6 dihydrofolate reductase (from RefSeq NM_010049.3) Dhfr ENSMUST00000022218.1 ENSMUST00000022218.2 ENSMUST00000022218.3 ENSMUST00000022218.4 ENSMUST00000022218.5 NM_010049 Q544T5 Q544T5_MOUSE uc007rkl.1 uc007rkl.2 uc007rkl.3 Cofactor biosynthesis; tetrahydrofolate biosynthesis; 5,6,7,8- tetrahydrofolate from 7,8-dihydrofolate: step 1/1. Belongs to the dihydrofolate reductase family. dihydrofolate reductase activity cytoplasm mitochondrion axon regeneration response to methotrexate response to nicotine dihydrofolate metabolic process tetrahydrofolate biosynthetic process folic acid metabolic process NADP binding dihydrofolic acid binding oxidation-reduction process uc007rkl.1 uc007rkl.2 uc007rkl.3 
ENSMUST00000022225.12 Trim23 ENSMUST00000022225.12 tripartite motif-containing 23, transcript variant 1 (from RefSeq NM_001361538.1) Arfd1 ENSMUST00000022225.1 ENSMUST00000022225.10 ENSMUST00000022225.11 ENSMUST00000022225.2 ENSMUST00000022225.3 ENSMUST00000022225.4 ENSMUST00000022225.5 ENSMUST00000022225.6 ENSMUST00000022225.7 ENSMUST00000022225.8 ENSMUST00000022225.9 NM_001361538 Q8BGX0 Q8C2B6 Q8CDA4 Q8CDA7 TRI23_MOUSE uc007rsx.1 uc007rsx.2 uc007rsx.3 Acts as an E3 ubiquitin-protein ligase. Plays an essential role in autophagy activation during viral infection. Mechanistically, activates TANK-binding kinase 1/TBK1 by facilitating its dimerization and ability to phosphorylate the selective autophagy receptor SQSTM1. In order to achieve this function, TRIM23 mediates 'Lys-27'-linked auto-ubiquitination of its ADP-ribosylation factor (ARF) domain to induce its GTPase activity and its recruitment to autophagosomes. Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Protein modification; protein ubiquitination. Homodimer. Interacts with PSCD1. Interacts with UBE2D2. Interacts with TBK1 (via N-terminal kinase domain) and p62/SQSTM1. Cytoplasm Endomembrane system Golgi apparatus membrane Lysosome membrane Note=Membrane-associated with the Golgi complex and lysosomal structures. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8BGX0-1; Sequence=Displayed; Name=2; IsoId=Q8BGX0-2; Sequence=VSP_010814; Name=3; IsoId=Q8BGX0-3; Sequence=VSP_010815; The RING-type zinc finger domain is responsible for E3 ubiquitin ligase activity. In the C-terminal section; belongs to the small GTPase superfamily. Arf family. Golgi membrane nucleotide binding nucleic acid binding GTPase activity ubiquitin-protein transferase activity GTP binding nucleus cytoplasm lysosome lysosomal membrane Golgi apparatus plasma membrane protein ADP-ribosylation intracellular protein transport zinc ion binding endomembrane system membrane vesicle-mediated transport protein ubiquitination transferase activity GDP binding identical protein binding metal ion binding uc007rsx.1 uc007rsx.2 uc007rsx.3 
ENSMUST00000022226.6 Ppwd1 ENSMUST00000022226.6 peptidylprolyl isomerase domain and WD repeat containing 1 (from RefSeq NM_172807.4) ENSMUST00000022226.1 ENSMUST00000022226.2 ENSMUST00000022226.3 ENSMUST00000022226.4 ENSMUST00000022226.5 NM_172807 PPWD1_MOUSE Ppwd1 Q0VEA0 Q8CEC6 uc007rsz.1 uc007rsz.2 uc007rsz.3 uc007rsz.4 uc007rsz.5 PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding. May be involved in pre-mRNA splicing. Reaction=[protein]-peptidylproline (omega=180) = [protein]- peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA- COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8; Evidence=; Inhibited by cyclosporin A (CsA). Identified in the spliceosome C complex. Nucleus Note=Associated with spliceosomal complexes. Belongs to the cyclophilin-type PPIase family. PPIL1 subfamily. protein peptidyl-prolyl isomerization peptidyl-prolyl cis-trans isomerase activity nucleus spliceosomal complex mRNA processing RNA splicing cyclosporin A binding nuclear body isomerase activity catalytic step 2 spliceosome uc007rsz.1 uc007rsz.2 uc007rsz.3 uc007rsz.4 uc007rsz.5 
ENSMUST00000022227.8 Cenpk ENSMUST00000022227.8 centromere protein K, transcript variant 1 (from RefSeq NM_021790.2) A0A0R4J037 A0A0R4J037_MOUSE Cenpk ENSMUST00000022227.1 ENSMUST00000022227.2 ENSMUST00000022227.3 ENSMUST00000022227.4 ENSMUST00000022227.5 ENSMUST00000022227.6 ENSMUST00000022227.7 NM_021790 uc007rte.1 uc007rte.2 uc007rte.3 uc007rte.4 Chromosome, centromere Nucleus Belongs to the CENP-K/MCM22 family. nucleus kinetochore assembly uc007rte.1 uc007rte.2 uc007rte.3 uc007rte.4 
ENSMUST00000022228.13 Cwc27 ENSMUST00000022228.13 CWC27 spliceosome-associated protein, transcript variant 1 (from RefSeq NM_026072.1) CWC27_MOUSE Cwc27 ENSMUST00000022228.1 ENSMUST00000022228.10 ENSMUST00000022228.11 ENSMUST00000022228.12 ENSMUST00000022228.2 ENSMUST00000022228.3 ENSMUST00000022228.4 ENSMUST00000022228.5 ENSMUST00000022228.6 ENSMUST00000022228.7 ENSMUST00000022228.8 ENSMUST00000022228.9 NM_026072 Q3TKY6 Q8BG42 Q8R158 Q9CXT1 Sdccag10 uc007rtj.1 uc007rtj.2 uc007rtj.3 As part of the spliceosome, plays a role in pre-mRNA splicing. Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (By similarity). Part of the activated spliceosome B/catalytic step 1 spliceosome, one of the forms of the spliceosome which has a well- formed active site but still cannot catalyze the branching reaction and is composed at least of 52 proteins, the U2, U5 and U6 snRNAs and the pre-mRNA. Recruited during early steps of activated spliceosome B maturation, it is probably one of the first proteins released from this complex as he matures to the spliceosome C complex. Component of the minor spliceosome, which splices U12-type introns (By similarity). Nucleus Knockout mice manifest significant embryonic lethality. Growth retardation, lack of neural tube closure, and absence of limb buds are observed at embryonic day 12.5. Surviving mice show growth retardation and retinal dystrophic changes. Belongs to the cyclophilin-type PPIase family. Despite the fact that it belongs to the cyclophilin-type PPIase family, it has probably no peptidyl-prolyl cis-trans isomerase activity. Sequence=AAH25437.1; Type=Erroneous initiation; Evidence=; Sequence=BAB29120.1; Type=Frameshift; Evidence=; Sequence=BAC36042.1; Type=Erroneous initiation; Evidence=; Sequence=BAC37003.1; Type=Erroneous initiation; Evidence=; protein peptidyl-prolyl isomerization peptidyl-prolyl cis-trans isomerase activity nucleus nucleoplasm protein folding U2-type precatalytic spliceosome catalytic step 2 spliceosome uc007rtj.1 uc007rtj.2 uc007rtj.3 
ENSMUST00000022230.15 Srek1ip1 ENSMUST00000022230.15 splicing regulatory glutamine/lysine-rich protein 1interacting protein 1, transcript variant 2 (from RefSeq NR_135272.2) ENSMUST00000022230.1 ENSMUST00000022230.10 ENSMUST00000022230.11 ENSMUST00000022230.12 ENSMUST00000022230.13 ENSMUST00000022230.14 ENSMUST00000022230.2 ENSMUST00000022230.3 ENSMUST00000022230.4 ENSMUST00000022230.5 ENSMUST00000022230.6 ENSMUST00000022230.7 ENSMUST00000022230.8 ENSMUST00000022230.9 NR_135272 Q05CD6 Q4V9W2 Q8CGG6 Q9CRM9 Q9CRR4 Q9CXR0 SR1IP_MOUSE Sfrs12ip1 uc007rtm.1 uc007rtm.2 uc007rtm.3 uc007rtm.4 Possible splicing regulator involved in the control of cellular survival. Interacts with SREK1/SFRS12. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q4V9W2-1; Sequence=Displayed; Name=2; IsoId=Q4V9W2-2; Sequence=VSP_029642; Sequence=BAB29157.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; Sequence=BAB31175.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; molecular_function nucleic acid binding cellular_component mRNA processing biological_process zinc ion binding RNA splicing metal ion binding uc007rtm.1 uc007rtm.2 uc007rtm.3 uc007rtm.4 
ENSMUST00000022232.6 Nt5el ENSMUST00000022232.6 5' nucleotidase, ecto-like (from RefSeq NM_025751.3) 4933425L06Rik ENSMUST00000022232.1 ENSMUST00000022232.2 ENSMUST00000022232.3 ENSMUST00000022232.4 ENSMUST00000022232.5 NM_025751 Nt5el Q9D3Z8 Q9D3Z8_MOUSE uc007rtq.1 uc007rtq.2 Membrane ; Lipid- anchor, GPI-anchor Belongs to the 5'-nucleotidase family. nucleotide binding molecular_function cellular_component biological_process nucleotide catabolic process hydrolase activity uc007rtq.1 uc007rtq.2 
ENSMUST00000022235.6 Htr1a ENSMUST00000022235.6 5-hydroxytryptamine (serotonin) receptor 1A (from RefSeq NM_008308.5) 5HT1A_MOUSE ENSMUST00000022235.1 ENSMUST00000022235.2 ENSMUST00000022235.3 ENSMUST00000022235.4 ENSMUST00000022235.5 Gpcr18 NM_008308 Q60956 Q61617 Q64264 Q8BGS4 uc007rtu.1 uc007rtu.2 uc007rtu.3 uc007rtu.4 G-protein coupled receptor for 5-hydroxytryptamine (serotonin). Also functions as a receptor for various drugs and psychoactive substances. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Beta-arrestin family members inhibit signaling via G proteins and mediate activation of alternative signaling pathways. Signaling inhibits adenylate cyclase activity and activates a phosphatidylinositol-calcium second messenger system that regulates the release of Ca(2+) ions from intracellular stores. Plays a role in the regulation of 5-hydroxytryptamine release and in the regulation of dopamine and 5-hydroxytryptamine metabolism. Plays a role in the regulation of dopamine and 5-hydroxytryptamine levels in the brain, and thereby affects neural activity, mood and behavior. Plays a role in the response to anxiogenic stimuli. Heterodimer; heterodimerizes with GPER1. Interacts with YIF1B (By similarity). Interacts with GPR39 and GALR1 (By similarity). Cell membrane ; Multi-pass membrane protein Cell projection, dendrite Most abundantly expressed in midbrain, in dorsal raphe and hippocampus. Detected at lower levels in amygdala and brain cortex. Mutant mice display decreased exploratory behavior and increased fear-related behavior in anxiogenic environments. Mutant mice display altered monoamine metabolism in specific parts of the brain, especially in dorsal and medial raphe nuclei, thalamus and hypothalamus, leading to altered levels of 5- hydroxytryptamine, dopamine and their metabolites, as well as altered noradrenaline levels. Belongs to the G-protein coupled receptor 1 family. 5- hydroxytryptamine receptor subfamily. HTR1A sub-subfamily. behavioral fear response G-protein alpha-subunit binding G-protein coupled receptor activity G-protein coupled serotonin receptor activity receptor binding plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger adenylate cyclase-inhibiting serotonin receptor signaling pathway serotonin receptor signaling pathway chemical synaptic transmission behavior drug binding cell proliferation regulation of serotonin secretion membrane integral component of membrane dendrite neurotransmitter receptor activity positive regulation of microtubule depolymerization exploration behavior regulation of dopamine metabolic process vasoconstriction serotonin metabolic process neuronal cell body axon hillock regulation of hormone secretion regulation of behavior serotonin binding regulation of feeding behavior receptor-receptor interaction NMDA glutamate receptor clustering GABA-ergic synapse integral component of presynaptic membrane regulation of synaptic vesicle exocytosis uc007rtu.1 uc007rtu.2 uc007rtu.3 uc007rtu.4 
ENSMUST00000022242.9 Emb ENSMUST00000022242.9 embigin (from RefSeq NM_010330.4) EMB_MOUSE ENSMUST00000022242.1 ENSMUST00000022242.2 ENSMUST00000022242.3 ENSMUST00000022242.4 ENSMUST00000022242.5 ENSMUST00000022242.6 ENSMUST00000022242.7 ENSMUST00000022242.8 Gp70 NM_010330 P21995 Q3UFF1 Q8C2J8 Q8C543 Q96C38 uc007rym.1 uc007rym.2 uc007rym.3 uc007rym.4 Plays a role in targeting the monocarboxylate transporters SLC16A1, SLC16A6 and SLC16A7 to the cell membrane (By similarity). Plays a role in the outgrowth of motoneurons and in the formation of neuromuscular junctions. Following muscle denervation, promotes nerve terminal sprouting and the formation of additional acetylcholine receptor clusters at synaptic sites without affecting terminal Schwann cell number or morphology. Delays the retraction of terminal sprouts following re-innervation of denervated endplates. Interacts with SLC16A1, SLC16A6 and SLC16A7. Cell membrane ; Single-pass type I membrane protein Synapse Note=Localizes to the neuromuscular junctions. Only member of the immunoglobulin superfamily to be expressed in embryonal carcinoma cells, which resemble multipotential cells of early embryos. At neuromuscular junctions, 5-fold higher expression levels at P0 compared to adult. Regulated by muscle activity. Strongly up-regulated after muscle denervation, including that of gastrocnemius muscle. Maximal expression is observed 10 days after denervation (at protein level). plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules axon guidance membrane integral component of membrane cell junction axon plasma membrane lactate transport synapse dendrite self-avoidance protein binding involved in cell-cell adhesion uc007rym.1 uc007rym.2 uc007rym.3 uc007rym.4 
ENSMUST00000022245.10 Mrps30 ENSMUST00000022245.10 mitochondrial ribosomal protein S30 (from RefSeq NM_021556.3) B2KF79 ENSMUST00000022245.1 ENSMUST00000022245.2 ENSMUST00000022245.3 ENSMUST00000022245.4 ENSMUST00000022245.5 ENSMUST00000022245.6 ENSMUST00000022245.7 ENSMUST00000022245.8 ENSMUST00000022245.9 NM_021556 Q3U9U4 Q9CYS8 Q9D0G0 Q9JJQ2 RT30_MOUSE uc007ryr.1 uc007ryr.2 uc007ryr.3 Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30 distinct proteins. Mitochondrion Belongs to the mitochondrion-specific ribosomal protein mL65 family. structural constituent of ribosome mitochondrion mitochondrial large ribosomal subunit ribosome translation biological_process uc007ryr.1 uc007ryr.2 uc007ryr.3 
ENSMUST00000022246.9 Fgf10 ENSMUST00000022246.9 fibroblast growth factor 10 (from RefSeq NM_008002.5) ENSMUST00000022246.1 ENSMUST00000022246.2 ENSMUST00000022246.3 ENSMUST00000022246.4 ENSMUST00000022246.5 ENSMUST00000022246.6 ENSMUST00000022246.7 ENSMUST00000022246.8 FGF10_MOUSE NM_008002 O35565 Q543V5 uc007ryv.1 uc007ryv.2 uc007ryv.3 uc007ryv.4 Plays an important role in the regulation of embryonic development, cell proliferation and cell differentiation. Required for normal branching morphogenesis. May play a role in wound healing. Interacts with FGFR1 and FGFR2. Interacts with FGFBP1 (By similarity). Secreted Expressed abundantly in embryos and the lung, and at much lower levels in brain and heart. Belongs to the heparin-binding growth factors family. establishment of mitotic spindle orientation activation of MAPK activity angiogenesis metanephros development organ induction mesonephros development blood vessel remodeling metanephros morphogenesis fibroblast growth factor receptor binding type 2 fibroblast growth factor receptor binding protein binding extracellular region extracellular space nucleus plasma membrane chemotaxis cell-cell signaling determination of left/right symmetry salivary gland development salivary gland morphogenesis growth factor activity heparin binding positive regulation of cell proliferation negative regulation of cell proliferation fibroblast growth factor receptor signaling pathway epidermis development regulation of smoothened signaling pathway embryonic pattern specification animal organ morphogenesis cell surface regulation of gene expression positive regulation of epithelial cell migration positive regulation of keratinocyte proliferation response to organic cyclic compound pituitary gland development cell differentiation positive regulation of Wnt signaling pathway lung development embryonic genitalia morphogenesis epithelial cell differentiation thyroid gland development otic vesicle formation positive regulation of vascular endothelial growth factor receptor signaling pathway pancreas development hair follicle morphogenesis embryonic camera-type eye development actin cytoskeleton reorganization response to estradiol response to lipopolysaccharide positive regulation of ATPase activity lacrimal gland development regulation of activin receptor signaling pathway protein localization to cell surface somatic stem cell population maintenance limb morphogenesis organ growth chemoattractant activity wound healing tissue regeneration inner ear morphogenesis odontogenesis of dentin-containing tooth muscle cell fate commitment positive regulation of MAPK cascade negative regulation of cell differentiation positive regulation of DNA repair positive regulation of DNA replication positive regulation of Notch signaling pathway positive regulation of transcription, DNA-templated positive regulation of mitotic cell cycle positive regulation of transcription from RNA polymerase II promoter positive regulation of Ras protein signal transduction regulation of saliva secretion positive regulation of fibroblast proliferation lung alveolus development blood vessel morphogenesis spleen development thymus development embryonic digestive tract morphogenesis digestive tract development embryonic digestive tract development animal organ formation epidermis morphogenesis semicircular canal morphogenesis branching morphogenesis of an epithelial tube female genitalia morphogenesis male genitalia morphogenesis positive regulation of lymphocyte proliferation epithelial cell proliferation urothelial cell proliferation positive regulation of urothelial cell proliferation positive regulation of epithelial cell proliferation positive regulation of peptidyl-tyrosine phosphorylation white fat cell differentiation positive chemotaxis induction of positive chemotaxis smooth muscle cell differentiation positive regulation of keratinocyte migration radial glial cell differentiation limb development limb bud formation lung morphogenesis lung epithelium development lung saccule development bronchiole morphogenesis epithelial tube branching involved in lung morphogenesis branching involved in salivary gland morphogenesis bud outgrowth involved in lung branching bud elongation involved in lung branching mesenchymal-epithelial cell signaling involved in lung development Type II pneumocyte differentiation prostatic bud formation respiratory system development mammary gland specification fibroblast growth factor receptor signaling pathway involved in mammary gland specification mammary gland bud formation submandibular salivary gland formation epithelial cell proliferation involved in salivary gland morphogenesis regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling branch elongation involved in salivary gland morphogenesis semicircular canal fusion mesenchymal cell differentiation involved in lung development secretion by lung epithelial cell involved in lung growth lung proximal/distal axis specification tear secretion positive regulation of white fat cell proliferation ERK1 and ERK2 cascade positive regulation of ERK1 and ERK2 cascade Harderian gland development negative regulation of cell cycle arrest positive regulation of hair follicle cell proliferation positive regulation of canonical Wnt signaling pathway positive regulation of G1/S transition of mitotic cell cycle negative regulation of extrinsic apoptotic signaling pathway in absence of ligand uc007ryv.1 uc007ryv.2 uc007ryv.3 uc007ryv.4 
ENSMUST00000022256.5 Psmd6 ENSMUST00000022256.5 proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 (from RefSeq NM_025550.3) ENSMUST00000022256.1 ENSMUST00000022256.2 ENSMUST00000022256.3 ENSMUST00000022256.4 NM_025550 PSMD6_MOUSE Q99JI4 Q9CWZ1 uc007sgj.1 uc007sgj.2 uc007sgj.3 Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which could impair cellular functions, and by removing proteins whose functions are no longer required. Therefore, the proteasome participates in numerous cellular processes, including cell cycle progression, apoptosis, or DNA damage repair. Component of the 19S proteasome regulatory particle complex. The 26S proteasome consists of a 20S core particle (CP) and two 19S regulatory subunits (RP). The regulatory particle is made of a lid composed of 9 subunits including PSMD6, a base containing 6 ATPases and few additional components. Belongs to the proteasome subunit S10 family. proteasome complex proteasome regulatory particle proteasome accessory complex enzyme regulator activity proteasome-mediated ubiquitin-dependent protein catabolic process regulation of catalytic activity uc007sgj.1 uc007sgj.2 uc007sgj.3 
ENSMUST00000022262.6 Fezf2 ENSMUST00000022262.6 Fez family zinc finger 2 (from RefSeq NM_080433.3) ENSMUST00000022262.1 ENSMUST00000022262.2 ENSMUST00000022262.3 ENSMUST00000022262.4 ENSMUST00000022262.5 FEZF2_MOUSE Fez Fezl NM_080433 Q9D298 Q9ESP5 Zfp312 uc007sfs.1 uc007sfs.2 uc007sfs.3 uc007sfs.4 Transcription repressor. Required for the specification of corticospinal motor neurons and other subcerebral projection neurons. May play a role in layer and neuronal subtype-specific patterning of subcortical projections and axonal fasciculation. Controls the development of dendritic arborization and spines of large layer V pyramidal neurons. Plays a role in rostro-caudal patterning of the diencephalon and in prethalamic formation. Nucleus Highly expressed in neocortical layer V, moderately expressed in layer VI. Expressed in subcortically projecting neurons. Expressed in the olfactory epithelium, hypothalamus, ventrolateral pallium and prethalamus at mid-gestation. At 12.5 dpc, highly enriched in the postmigratory pyramidal neurons forming the cortical plate situated beneath the pial surface. At 13.5 dpc, expressed in the ventricular zone and subventricular zone at low levels, expression is much higher in the developing cortical plate, where postmitotic neurons are positioned. During late embryonic and early postnatal development, expression disappears from cortical progenitors and becomes restricted to the subplate and the prospective layer V and VI pyramidal neurons. In null mutant mice, no subcerebral projection neurons are born and no cortical projections to the brainstem or the spinal cord ever develop. In contrast, other populations of neurons are unaffected. There seems to be a redundant role for FEZF1 and FEZF2 in diencephalon development. Belongs to the krueppel C2H2-type zinc-finger protein family. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding nucleic acid binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated multicellular organism development nervous system development axonal fasciculation locomotory behavior negative regulation of cell proliferation dendrite development telencephalon development dentate gyrus development forebrain anterior/posterior pattern specification cerebral cortex GABAergic interneuron migration cerebral cortex neuron differentiation commitment of neuronal cell to specific neuron type in forebrain cell differentiation forebrain development sequence-specific DNA binding cell dedifferentiation transcription regulatory region DNA binding negative regulation of neuron differentiation positive regulation of neuron differentiation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding neuron fate determination regulation of neurogenesis regulation of axon guidance uc007sfs.1 uc007sfs.2 uc007sfs.3 uc007sfs.4 
ENSMUST00000022268.10 Pdhb ENSMUST00000022268.10 pyruvate dehydrogenase (lipoamide) beta (from RefSeq NM_024221.3) ENSMUST00000022268.1 ENSMUST00000022268.2 ENSMUST00000022268.3 ENSMUST00000022268.4 ENSMUST00000022268.5 ENSMUST00000022268.6 ENSMUST00000022268.7 ENSMUST00000022268.8 ENSMUST00000022268.9 NM_024221 ODPB_MOUSE Q3TL86 Q505N8 Q99LW9 Q9D051 uc007sev.1 uc007sev.2 uc007sev.3 The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle. Reaction=H(+) + N(6)-[(R)-lipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase] + pyruvate = CO2 + N(6)-[(R)-S(8)- acetyldihydrolipoyl]-L-lysyl-[dihydrolipoyllysine-residue acetyltransferase]; Xref=Rhea:RHEA:19189, Rhea:RHEA-COMP:10480, Rhea:RHEA-COMP:10481, ChEBI:CHEBI:15361, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:83099, ChEBI:CHEBI:83111; EC=1.2.4.1; Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937; Evidence=; Heterotetramer of two PDHA1 and two PDHB subunits. The heterotetramer interacts with DLAT, and is part of the multimeric pyruvate dehydrogenase complex that contains multiple copies of pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (DLAT, E2) and lipoamide dehydrogenase (DLD, E3). These subunits are bound to an inner core composed of about 48 DLAT and 12 PDHX molecules. Interacts with DLAT. Mitochondrion matrix Sequence=AAH02188.1; Type=Erroneous initiation; Evidence=; catalytic activity pyruvate dehydrogenase activity pyruvate dehydrogenase (acetyl-transferring) activity nucleoplasm mitochondrion mitochondrial matrix carbohydrate metabolic process glucose metabolic process acetyl-CoA biosynthetic process from pyruvate tricarboxylic acid cycle oxidoreductase activity pyruvate dehydrogenase (NAD+) activity pyruvate dehydrogenase complex oxidation-reduction process mitochondrial acetyl-CoA biosynthetic process from pyruvate uc007sev.1 uc007sev.2 uc007sev.3 
ENSMUST00000022269.7 Fam3d ENSMUST00000022269.7 FAM3 metabolism regulating signaling molecule D (from RefSeq NM_146050.2) ENSMUST00000022269.1 ENSMUST00000022269.2 ENSMUST00000022269.3 ENSMUST00000022269.4 ENSMUST00000022269.5 ENSMUST00000022269.6 FAM3D_MOUSE Fam3d NM_146050 Oit1 P97805 Q8R009 Q8R1F2 uc007sfd.1 uc007sfd.2 uc007sfd.3 Secreted Belongs to the FAM3 family. molecular_function cellular_component extracellular region negative regulation of insulin secretion negative regulation of glucagon secretion uc007sfd.1 uc007sfd.2 uc007sfd.3 
ENSMUST00000022275.14 Ankrd55 ENSMUST00000022275.14 ankyrin repeat domain 55, transcript variant 1 (from RefSeq NM_029898.3) ANR55_MOUSE E9QPX4 ENSMUST00000022275.1 ENSMUST00000022275.10 ENSMUST00000022275.11 ENSMUST00000022275.12 ENSMUST00000022275.13 ENSMUST00000022275.2 ENSMUST00000022275.3 ENSMUST00000022275.4 ENSMUST00000022275.5 ENSMUST00000022275.6 ENSMUST00000022275.7 ENSMUST00000022275.8 ENSMUST00000022275.9 NM_029898 Q3UUM0 Q8BLD6 Q9CTM6 uc007rwd.1 uc007rwd.2 uc007rwd.3 uc007rwd.4 molecular_function cellular_component biological_process uc007rwd.1 uc007rwd.2 uc007rwd.3 uc007rwd.4 
ENSMUST00000022281.5 Mtrex ENSMUST00000022281.5 Mtr4 exosome RNA helicase (from RefSeq NM_028151.2) ENSMUST00000022281.1 ENSMUST00000022281.2 ENSMUST00000022281.3 ENSMUST00000022281.4 MTREX_MOUSE Mtrex NM_028151 Q9CZU3 Skiv2l2 uc007rws.1 uc007rws.2 uc007rws.3 Catalyzes the ATP-dependent unwinding of RNA duplexes with a single-stranded 3' RNA extension. Central subunit of many protein complexes, namely TRAMP-like, nuclear exosome targeting (NEXT) and poly(A) tail exosome targeting (PAXT). NEXT functions as an RNA exosome cofactor that directs a subset of non-coding short-lived RNAs for exosomal degradation. NEXT is involved in surveillance and turnover of aberrant transcripts and non-coding RNAs. PAXT directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor ZCCHC8, which links to RNA-binding protein adapters. Associated with the RNA exosome complex and involved in the 3'-processing of the 7S pre-RNA to the mature 5.8S rRNA. May be involved in pre-mRNA splicing. In the context of NEXT complex can also in vitro unwind DNA:RNA heteroduplexes with a 3' poly (A) RNA tracking strand. Can promote unwinding and degradation of structured RNA substrates when associated with the nuclear exosome and its cofactors. Can displace a DNA strand while translocating on RNA to ultimately degrade the RNA within a DNA/RNA heteroduplex (By similarity). Plays a role in DNA damage response (By similarity). Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.13; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:13066; Evidence=; Activated when MTREX is incorporated into NEXT complex an the nuclear RNA exosome complex. Component of a TRAMP-like complex, an ATP-dependent exosome regulatory complex consisting of a helicase (MTREX), an oligadenylate polymerase (TENT4B or TENT4A), and a substrate specific RNA-binding factor (ZCCHC7 or ZCCHC8). Several TRAMP-like complexes exist with specific compositions and are associated with nuclear, or nucleolar RNA exosomes. Identified in the spliceosome C complex. Component of the poly(A) tail exosome targeting (PAXT) complex made of PABPN1, ZFC3H1 and MTREX that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. Component of the nuclear exosome targeting (NEXT) complex composed of MTREX, ZCCHC8, and RBM7 that directs a subset of non-coding short-lived RNAs for exosomal degradation. Interacts with ZCCHC8; this interaction bridges the interaction between RBM7 and MTREX. Binds to ZFC3H1 and RBM7 in a RNase-insensitive manner. Interacts with EXOSC10; the interaction mediates the association of MTREX with nuclear RNA exosomes. Interacts with isoform 1 of NVL in an ATP-dependent manner; the interaction is required to associate NVL with nuclear RNA exosome. Interacts with WDR74; the interaction dissociation in a late stage of rRNA synthesis is required for appropriate maturation of pre-60S particles and depends on the ATPase activity of NVL. Interacts with MPHOSPH6. Interacts with the RNA cap-binding complex proteins NCBP1 and SRRT. Interacts with NRDE2; the interaction is direct and negatively regulates MTREX function in exosomal degradation by changing its conformation precluding interaction with ZFC3H1, the RNA cap-binding complex proteins NCBP1 and SRRT, and association with the exosome. Interacts with the nuclear RNA exosome complex. Nucleus, nucleoplasm Nucleus, nucleolus Nucleus Nucleus speckle Belongs to the helicase family. SKI2 subfamily. nucleotide binding nuclear exosome (RNase complex) exosome (RNase complex) maturation of 5.8S rRNA nucleic acid binding RNA binding RNA helicase activity helicase activity ATP binding nucleus nucleoplasm spliceosomal complex nucleolus rRNA processing mRNA processing RNA catabolic process RNA splicing hydrolase activity TRAMP complex catalytic step 2 spliceosome uc007rws.1 uc007rws.2 uc007rws.3 
ENSMUST00000022282.6 Gpx8 ENSMUST00000022282.6 glutathione peroxidase 8 (putative), transcript variant 1 (from RefSeq NM_027127.3) ENSMUST00000022282.1 ENSMUST00000022282.2 ENSMUST00000022282.3 ENSMUST00000022282.4 ENSMUST00000022282.5 GPX8_MOUSE NM_027127 Q8VE68 Q9D7B7 uc007rxb.1 uc007rxb.2 uc007rxb.3 Reaction=2 glutathione + H2O2 = glutathione disulfide + 2 H2O; Xref=Rhea:RHEA:16833, ChEBI:CHEBI:15377, ChEBI:CHEBI:16240, ChEBI:CHEBI:57925, ChEBI:CHEBI:58297; EC=1.11.1.9; Membrane ; Single-pass membrane protein Belongs to the glutathione peroxidase family. peroxidase activity glutathione peroxidase activity cellular_component response to oxidative stress membrane integral component of membrane oxidoreductase activity oxidation-reduction process cellular oxidant detoxification uc007rxb.1 uc007rxb.2 uc007rxb.3 
ENSMUST00000022286.8 Ndufs4 ENSMUST00000022286.8 NADH:ubiquinone oxidoreductase core subunit S4 (from RefSeq NM_010887.2) E9QPX3 E9QPX3_MOUSE ENSMUST00000022286.1 ENSMUST00000022286.2 ENSMUST00000022286.3 ENSMUST00000022286.4 ENSMUST00000022286.5 ENSMUST00000022286.6 ENSMUST00000022286.7 NM_010887 Ndufs4 uc007rxm.1 uc007rxm.2 uc007rxm.3 uc007rxm.4 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme. Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side Belongs to the complex I NDUFS4 subunit family. regulation of protein phosphorylation mitochondrion mitochondrial respiratory chain complex I brain development NADH dehydrogenase (ubiquinone) activity oxidoreductase activity, acting on NAD(P)H cAMP-mediated signaling electron transport chain mitochondrial respiratory chain complex I assembly cellular respiration positive regulation of fibroblast proliferation response to cAMP reactive oxygen species metabolic process uc007rxm.1 uc007rxm.2 uc007rxm.3 uc007rxm.4 
ENSMUST00000022296.7 Ube2e1 ENSMUST00000022296.7 ubiquitin-conjugating enzyme E2E 1 (from RefSeq NM_009455.3) ENSMUST00000022296.1 ENSMUST00000022296.2 ENSMUST00000022296.3 ENSMUST00000022296.4 ENSMUST00000022296.5 ENSMUST00000022296.6 NM_009455 Q541Z5 Q541Z5_MOUSE Ube2e1 uc007shu.1 uc007shu.2 uc007shu.3 Belongs to the ubiquitin-conjugating enzyme family. ubiquitin ligase complex nucleotide binding protein polyubiquitination ubiquitin-protein transferase activity ATP binding nucleus histone monoubiquitination protein ubiquitination transferase activity ISG15-protein conjugation histone H2B ubiquitination ISG15 transferase activity ubiquitin conjugating enzyme activity protein K48-linked ubiquitination uc007shu.1 uc007shu.2 uc007shu.3 
ENSMUST00000022304.12 Thrb ENSMUST00000022304.12 thyroid hormone receptor beta, transcript variant 2 (from RefSeq NM_009380.3) ENSMUST00000022304.1 ENSMUST00000022304.10 ENSMUST00000022304.11 ENSMUST00000022304.2 ENSMUST00000022304.3 ENSMUST00000022304.4 ENSMUST00000022304.5 ENSMUST00000022304.6 ENSMUST00000022304.7 ENSMUST00000022304.8 ENSMUST00000022304.9 Erba2 NM_009380 Nr1a2 P37242 P37244 Q0VDR8 Q3TY80 THB_MOUSE uc007sho.1 uc007sho.2 uc007sho.3 uc007sho.4 Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. Binds DNA as a dimer; homodimer and heterodimer with RXRB. Interacts with the coactivators NCOA1/SRC1, NCOA2/GRIP1, NCOA7 and MED1/TRAP220 in a ligand-inducible manner. Interacts with the corepressor NCOR1 in absence of ligand (By similarity). Interacts with C1D. Interacts with NR2F6; the interaction impairs the binding of the THRB homodimer and THRB:RXRB heterodimer to T3 response elements. Interacts with PRMT2 and THRSP (By similarity). Interacts with TACC1; this interaction is decreased in the presence of thyroid hormone T3 (By similarity). P37242; O08915: Aip; NbExp=2; IntAct=EBI-6935043, EBI-6935014; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=Beta-1; IsoId=P37242-1; Sequence=Displayed; Name=Beta-2; IsoId=P37242-2, P37244-1; Sequence=VSP_031078; Composed of three domains: a modulating N-terminal domain, a DNA-binding domain and a C-terminal ligand-binding domain. Belongs to the nuclear hormone receptor family. NR1 subfamily. negative regulation of transcription from RNA polymerase II promoter transcription regulatory region sequence-specific DNA binding RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding thyroid hormone mediated signaling pathway DNA binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding protein binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development sensory perception of sound negative regulation of female receptivity regulation of heart contraction female courtship behavior transcription factor binding zinc ion binding positive regulation of cell proliferation hormone-mediated signaling pathway animal organ morphogenesis nuclear body regulation of lipid metabolic process enzyme binding cell differentiation ligand-dependent nuclear receptor transcription coactivator activity thyroid gland development chromatin DNA binding positive regulation of chondrocyte differentiation response to lipid signaling receptor activity negative regulation of eye photoreceptor cell development protein homodimerization activity steroid hormone mediated signaling pathway sequence-specific DNA binding positive regulation of ossification negative regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter retinal cone cell development metal ion binding Type I pneumocyte differentiation thyroid hormone binding regulation of cholesterol metabolic process regulation of triglyceride metabolic process RNA polymerase II transcription factor complex retinal cone cell apoptotic process nuclear chromatin uc007sho.1 uc007sho.2 uc007sho.3 uc007sho.4 
ENSMUST00000022310.7 Ngly1 ENSMUST00000022310.7 N-glycanase 1, transcript variant 1 (from RefSeq NM_021504.3) ENSMUST00000022310.1 ENSMUST00000022310.2 ENSMUST00000022310.3 ENSMUST00000022310.4 ENSMUST00000022310.5 ENSMUST00000022310.6 NGLY1_MOUSE NM_021504 Q8K113 Q9CTK3 Q9JI78 uc007sgz.1 uc007sgz.2 uc007sgz.3 Specifically deglycosylates the denatured form of N-linked glycoproteins in the cytoplasm and assists their proteasome-mediated degradation. Cleaves the beta-aspartyl-glucosamine (GlcNAc) of the glycan and the amide side chain of Asn, converting Asn to Asp. Prefers proteins containing high-mannose over those bearing complex type oligosaccharides. Can recognize misfolded proteins in the endoplasmic reticulum that are exported to the cytosol to be destroyed and deglycosylate them, while it has no activity toward native proteins. Deglycosylation is a prerequisite for subsequent proteasome-mediated degradation of some, but not all, misfolded glycoproteins. Reaction=Hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl)asparagine residue in which the glucosamine residue may be further glycosylated, to yield a (substituted) N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue.; EC=3.5.1.52; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Inhibited by Z-VAD-fmk, a well-known caspase inhibitor, which inhibits enzyme activity through covalent binding of the carbohydrate to the single Cys-306 residue. Kinetic parameters: KM=114 uM for fetuin glycopeptide I ; Vmax=0.0964 nmol/min/mg enzyme with fetuin glycopeptide I as substrate ; Component of a complex required to couple retrotranslocation, ubiquitination and deglycosylation composed of NGLY1, SAKS1, AMFR, VCP and RAD23B. Interacts with the proteasome components RAD23B and PSMC1. Interacts with directly with VCP. Interacts with DERL1, bringing it close to the endoplasmic reticulum membrane. Interacts with SAKS1. Q9JI78; Q9R049: Amfr; NbExp=5; IntAct=EBI-3648128, EBI-3648125; Q9JI78; Q01853: Vcp; NbExp=9; IntAct=EBI-3648128, EBI-80597; Q9JI78; P54725: RAD23A; Xeno; NbExp=2; IntAct=EBI-3648128, EBI-746453; Cytoplasm Ubiquitously expressed with highest level in testis. The PUB domain mediates the interaction with VCP. Belongs to the transglutaminase-like superfamily. PNGase family. peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity protein binding nucleus cytoplasm cytosol misfolded or incompletely synthesized protein catabolic process glycoprotein catabolic process protein deglycosylation hydrolase activity metal ion binding uc007sgz.1 uc007sgz.2 uc007sgz.3 
ENSMUST00000022311.12 Oxsm ENSMUST00000022311.12 3-oxoacyl-ACP synthase, mitochondrial, transcript variant 1 (from RefSeq NM_027695.4) ENSMUST00000022311.1 ENSMUST00000022311.10 ENSMUST00000022311.11 ENSMUST00000022311.2 ENSMUST00000022311.3 ENSMUST00000022311.4 ENSMUST00000022311.5 ENSMUST00000022311.6 ENSMUST00000022311.7 ENSMUST00000022311.8 ENSMUST00000022311.9 NM_027695 OXSM_MOUSE Oxsm Q9D404 uc007sgx.1 uc007sgx.2 uc007sgx.3 May play a role in the biosynthesis of lipoic acid as well as longer chain fatty acids required for optimal mitochondrial function. Reaction=a fatty acyl-[ACP] + H(+) + malonyl-[ACP] = a 3-oxoacyl-[ACP] + CO2 + holo-[ACP]; Xref=Rhea:RHEA:22836, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9685, Rhea:RHEA-COMP:9916, Rhea:RHEA-COMP:14125, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:64479, ChEBI:CHEBI:78449, ChEBI:CHEBI:78776, ChEBI:CHEBI:138651; EC=2.3.1.41; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22837; Evidence=; Reaction=butanoyl-[ACP] + H(+) + malonyl-[ACP] = 3-oxohexanoyl-[ACP] + CO2 + holo-[ACP]; Xref=Rhea:RHEA:41820, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9628, Rhea:RHEA-COMP:9629, Rhea:RHEA-COMP:9685, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:64479, ChEBI:CHEBI:78449, ChEBI:CHEBI:78454, ChEBI:CHEBI:78456; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41821; Evidence=; Reaction=H(+) + hexanoyl-[ACP] + malonyl-[ACP] = 3-oxooctanoyl-[ACP] + CO2 + holo-[ACP]; Xref=Rhea:RHEA:41836, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9632, Rhea:RHEA-COMP:9633, Rhea:RHEA-COMP:9685, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:64479, ChEBI:CHEBI:78449, ChEBI:CHEBI:78459, ChEBI:CHEBI:78460; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41837; Evidence=; Reaction=H(+) + malonyl-[ACP] + octanoyl-[ACP] = 3-oxodecanoyl-[ACP] + CO2 + holo-[ACP]; Xref=Rhea:RHEA:41852, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9636, Rhea:RHEA-COMP:9637, Rhea:RHEA-COMP:9685, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:64479, ChEBI:CHEBI:78449, ChEBI:CHEBI:78463, ChEBI:CHEBI:78464; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41853; Evidence=; Reaction=decanoyl-[ACP] + H(+) + malonyl-[ACP] = 3-oxododecanoyl-[ACP] + CO2 + holo-[ACP]; Xref=Rhea:RHEA:41868, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9640, Rhea:RHEA-COMP:9641, Rhea:RHEA-COMP:9685, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:64479, ChEBI:CHEBI:78449, ChEBI:CHEBI:78468, ChEBI:CHEBI:78469; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41869; Evidence=; Reaction=dodecanoyl-[ACP] + H(+) + malonyl-[ACP] = 3-oxotetradecanoyl- [ACP] + CO2 + holo-[ACP]; Xref=Rhea:RHEA:41884, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9644, Rhea:RHEA-COMP:9645, Rhea:RHEA-COMP:9685, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:64479, ChEBI:CHEBI:65264, ChEBI:CHEBI:78449, ChEBI:CHEBI:78473; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41885; Evidence=; Reaction=H(+) + malonyl-[ACP] + tetradecanoyl-[ACP] = 3- oxohexadecanoyl-[ACP] + CO2 + holo-[ACP]; Xref=Rhea:RHEA:41900, Rhea:RHEA-COMP:9623, Rhea:RHEA-COMP:9648, Rhea:RHEA-COMP:9649, Rhea:RHEA-COMP:9685, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:64479, ChEBI:CHEBI:78449, ChEBI:CHEBI:78477, ChEBI:CHEBI:78478; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41901; Evidence=; Inhibited by cerulenin. Lipid metabolism; fatty acid biosynthesis. Mitochondrion Belongs to the thiolase-like superfamily. Beta-ketoacyl-ACP synthases family. catalytic activity 3-oxoacyl-[acyl-carrier-protein] synthase activity mitochondrion cytosol lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process acyl-CoA metabolic process transferase activity transferase activity, transferring acyl groups transferase activity, transferring acyl groups other than amino-acyl groups short-chain fatty acid biosynthetic process medium-chain fatty acid biosynthetic process uc007sgx.1 uc007sgx.2 uc007sgx.3 
ENSMUST00000022316.6 Dydc2 ENSMUST00000022316.6 DPY30 domain containing 2, transcript variant 1 (from RefSeq NM_027717.3) Dydc2 ENSMUST00000022316.1 ENSMUST00000022316.2 ENSMUST00000022316.3 ENSMUST00000022316.4 ENSMUST00000022316.5 NM_027717 Q9D3X8 Q9D3X8_MOUSE uc007tck.1 uc007tck.2 uc007tck.3 Belongs to the dpy-30 family. MLL3/4 complex Set1C/COMPASS complex histone H3-K4 methylation uc007tck.1 uc007tck.2 uc007tck.3 
ENSMUST00000022322.17 Glud1 ENSMUST00000022322.17 glutamate dehydrogenase 1 (from RefSeq NM_008133.4) DHE3_MOUSE ENSMUST00000022322.1 ENSMUST00000022322.10 ENSMUST00000022322.11 ENSMUST00000022322.12 ENSMUST00000022322.13 ENSMUST00000022322.14 ENSMUST00000022322.15 ENSMUST00000022322.16 ENSMUST00000022322.2 ENSMUST00000022322.3 ENSMUST00000022322.4 ENSMUST00000022322.5 ENSMUST00000022322.6 ENSMUST00000022322.7 ENSMUST00000022322.8 ENSMUST00000022322.9 Glud NM_008133 P26443 Q8C273 uc007tas.1 uc007tas.2 uc007tas.3 uc007tas.4 Mitochondrial glutamate dehydrogenase that converts L- glutamate into alpha-ketoglutarate (PubMed:20670938). Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle (By similarity). Plays a role in insulin homeostasis (PubMed:16959573). May be involved in learning and memory reactions by increasing the turnover of the excitatory neurotransmitter glutamate (By similarity). Reaction=H2O + L-glutamate + NAD(+) = 2-oxoglutarate + H(+) + NADH + NH4(+); Xref=Rhea:RHEA:15133, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16810, ChEBI:CHEBI:28938, ChEBI:CHEBI:29985, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.4.1.3; Evidence=; Reaction=H2O + L-glutamate + NADP(+) = 2-oxoglutarate + H(+) + NADPH + NH4(+); Xref=Rhea:RHEA:11612, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16810, ChEBI:CHEBI:28938, ChEBI:CHEBI:29985, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.4.1.3; Evidence=; Subject to allosteric regulation. Activated by ADP. Inhibited by GTP and ATP. ADP can occupy the NADH binding site and activate the enzyme. Inhibited by SIRT4 (By similarity). Inhibited by HADH (PubMed:20670938). Kinetic parameters: KM=107 uM for 2-oxoglutarate ; Homohexamer (By similarity). Interacts with HADH; this interaction inhibits the activation of GLUD1 (PubMed:20670938). Mitochondrion Endoplasmic reticulum Note=Mostly translocates into the mitochondria, only a small amount of the protein localizes to the endoplasmic reticulum. Acetylation of Lys-84 is observed in liver mitochondria from fasted mice but not from fed mice. ADP-ribosylated by SIRT4, leading to inactivate glutamate dehydrogenase activity (PubMed:16959573). Stoichiometry shows that ADP- ribosylation occurs in one subunit per catalytically active homohexamer (By similarity). Belongs to the Glu/Leu/Phe/Val dehydrogenases family. nucleotide binding glutamate dehydrogenase (NAD+) activity glutamate dehydrogenase [NAD(P)+] activity protein binding ATP binding GTP binding cytoplasm mitochondrion mitochondrial inner membrane mitochondrial matrix cellular amino acid metabolic process glutamate biosynthetic process glutamate catabolic process glutamine metabolic process long-term memory response to aluminum ion oxidoreductase activity oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor enzyme binding cerebellum development positive regulation of insulin secretion ADP binding oxidation-reduction process NAD+ binding leucine binding tricarboxylic acid metabolic process uc007tas.1 uc007tas.2 uc007tas.3 uc007tas.4 
ENSMUST00000022325.3 9230112D13Rik ENSMUST00000022325.3 RIKEN cDNA 9230112D13 gene (from RefSeq NM_030062.1) 9230112D13Rik ENSMUST00000022325.1 ENSMUST00000022325.2 NM_030062 Q9D260 Q9D260_MOUSE uc007tay.1 uc007tay.2 molecular_function cellular_component biological_process uc007tay.1 uc007tay.2 
ENSMUST00000022328.14 Ldb3 ENSMUST00000022328.14 LIM domain binding 3, transcript variant 2 (from RefSeq NM_001039071.2) B2RSB0 B7ZNT6 ENSMUST00000022328.1 ENSMUST00000022328.10 ENSMUST00000022328.11 ENSMUST00000022328.12 ENSMUST00000022328.13 ENSMUST00000022328.2 ENSMUST00000022328.3 ENSMUST00000022328.4 ENSMUST00000022328.5 ENSMUST00000022328.6 ENSMUST00000022328.7 ENSMUST00000022328.8 ENSMUST00000022328.9 Kiaa0613 LDB3_MOUSE Ldb3 NM_001039071 Q6A038 Q811P2 Q811P3 Q811P4 Q811P5 Q9D130 Q9JKS3 Q9JKS4 Q9R0Z1 Q9WVH1 Q9WVH2 uc007tbd.1 uc007tbd.2 uc007tbd.3 May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton. Interacts via its LIM domains with various PKC isoforms. Interacts via its PDZ domain with the ACTN2 C-terminal region. Interacts with MYOZ1, MYOZ2 and MYOZ3. Cytoplasm, perinuclear region Cell projection, pseudopodium Cytoplasm, cytoskeleton Cytoplasm, myofibril, sarcomere, Z line Note=Localized to the cytoplasm around nuclei and pseudopodia of undifferentiated cells and detected throughout the myotubes of differentiated cells. Colocalizes with ACTN2 at the Z-lines. Event=Alternative splicing; Named isoforms=6; Name=1 ; Synonyms=Cypher1c , Oracle 1 ; IsoId=Q9JKS4-1; Sequence=Displayed; Name=2 ; Synonyms=Cypher1s ; IsoId=Q9JKS4-2; Sequence=VSP_051903; Name=3 ; Synonyms=Cypher3c , Oracle 2 ; IsoId=Q9JKS4-3; Sequence=VSP_051904; Name=4 ; Synonyms=Cypher3s ; IsoId=Q9JKS4-4; Sequence=VSP_051903, VSP_051904; Name=5 ; Synonyms=Cypher2c ; IsoId=Q9JKS4-5; Sequence=VSP_051905, VSP_051906; Name=6 ; Synonyms=Cypher2s ; IsoId=Q9JKS4-6; Sequence=VSP_051903, VSP_051905, VSP_051906; Expressed primarily in adult heart and skeletal muscle, and detected at lower levels in lung. Isoforms are expressed in a tissue-specific manner. Isoform 1, isoform 3 and isoform 5 are expressed in heart, whereas isoform 2, isoform 4 and isoform 6 are expressed in skeletal muscle. Initially expressed in a myocardium-specific manner at 8.5-9 dpc and remains cardiac-restricted until day 12. Strongly expressed throughout heart in all stages examined. At 12.5 dpc expressed at low levels in non-cardiac striated muscles. By 14.5 dpc expressed at high levels in both cardiac and skeletal muscle, and also strongly expressed in striated muscles of tongue, thoracic and abdominal muscles, leg and diaphragm. The various isoforms are developmentally regulated in both skeletal and cardiac muscle. Isoform 5 and isoform 6, which are barely detectable during embryogenesis are up-regulated postnatally. In heart, isoform 3 is up-regulated developmentally, whereas the predominant isoform 1 is expressed throughout development and into adulthood. In skeletal muscle, the predominant isoform 2 is gradually replaced by isoform 4 postnatally. Sequence=BAB23128.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence=; Sequence=BAD32258.1; Type=Erroneous initiation; Evidence=; stress fiber actin binding protein kinase C binding protein binding cytoplasm cytoskeleton cell-cell adherens junction heart development cytoskeletal protein binding Z disc actin cytoskeleton organization pseudopodium filamentous actin cell projection sarcomere organization metal ion binding perinuclear region of cytoplasm muscle alpha-actinin binding muscle structure development uc007tbd.1 uc007tbd.2 uc007tbd.3 
ENSMUST00000022331.3 Opn4 ENSMUST00000022331.3 opsin 4 (melanopsin), transcript variant 1 (from RefSeq NM_013887.2) A4QPG3 B2C712 ENSMUST00000022331.1 ENSMUST00000022331.2 Mop Mopn NM_013887 OPN4_MOUSE Q9QXZ9 uc007tbh.1 uc007tbh.2 uc007tbh.3 Photoreceptor that binds cis-retinaldehydes (PubMed:19793992). Contributes to pupillar reflex, photoentrainment and other non-image forming responses to light (PubMed:12808468). May be involved in the optokinetic visual tracking response (PubMed:26392540). May be involved in the regulation of retinal hyaloid vessel growth and regression (PubMed:30936473). Cell membrane ; Multi-pass membrane protein Cell projection, axon Cell projection, dendrite Perikaryon Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Opn4L; IsoId=Q9QXZ9-1; Sequence=Displayed; Name=2; Synonyms=Opn4S; IsoId=Q9QXZ9-2; Sequence=VSP_045928; Expressed in the retinal pigment epithelium and ganglion cell layer (at protein level) (PubMed:10632589, PubMed:30240620, PubMed:31607531). Also expressed in amacrine cell layers of the retina (PubMed:10632589). Weakly expressed in vibrissae, and tail (PubMed:31607531). [Isoform 1]: Observed with processes in the outer strata of inner plexiform layer (IPL) close to the inner nuclear layer (INL) or is found to be bistratified with processes located both in the inner (ON) or outer (OFF) layers of the IPL (at protein level) (PubMed:19793992). A second population of isoform 1 is identified in processes which are confined to the inner layer of the IPL near to the ganglion cell layer (GCL) (at protein level) (PubMed:19793992). [Isoform 2]: About 40 times more abundant than isoform 1 in the retina (at protein level) (PubMed:19793992). Isoform 2 is involved in processes localized to the outer IPL or is bistratified with processes in both the inner and outer layers of the IPL (at protein level) (PubMed:19793992). Isoform 2 is absent in the processes confined only to the inner layer of the IPL (at protein level) (PubMed:19793992). Expressed in the inner retina at postnatal day 5 (P5), and expressed in retinal ganglion cells at P12. Mice fail to show a pupillar reflex, photoentrainment of the circadian clock and other non-image forming responses to light (PubMed:12808468). Newborn mice show normal hyaloid vessel numbers and normal vessel cellularity, however vessel numbers are increased by P8 (PubMed:30936473). In Opn4 and Pde6b double knockout mice optokinetic visual tracking response is abolished (PubMed:26392540). Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. G-protein coupled receptor activity 11-cis retinal binding plasma membrane integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway visual perception phototransduction G-protein coupled photoreceptor activity detection of visible light photoreceptor activity membrane integral component of membrane rhodopsin mediated signaling pathway protein-chromophore linkage regulation of circadian rhythm entrainment of circadian clock by photoperiod positive regulation of circadian sleep/wake cycle, sleep rhythmic process response to stimulus cellular response to light stimulus uc007tbh.1 uc007tbh.2 uc007tbh.3 
ENSMUST00000022337.11 Cdhr1 ENSMUST00000022337.11 cadherin-related family member 1 (from RefSeq NM_130878.3) CDHR1_MOUSE ENSMUST00000022337.1 ENSMUST00000022337.10 ENSMUST00000022337.2 ENSMUST00000022337.3 ENSMUST00000022337.4 ENSMUST00000022337.5 ENSMUST00000022337.6 ENSMUST00000022337.7 ENSMUST00000022337.8 ENSMUST00000022337.9 Kiaa1775 NM_130878 Pcdh21 Prcad Q8CFQ4 Q8CH99 Q8VHP6 uc007tbu.1 uc007tbu.2 uc007tbu.3 Potential calcium-dependent cell-adhesion protein. May be required for the structural integrity of the outer segment (OS) of photoreceptor cells. Interacts with PROM1. Q8VHP6; O43490: PROM1; Xeno; NbExp=3; IntAct=EBI-4395045, EBI-3447549; Cell membrane ; Single-pass membrane protein Note=Localized at the junction between the inner and outer segments of rod and cone photoreceptors cells. Confined to the base of the OS. Localized on the edges of nascent evaginating disks on the side of the OS opposite the connecting cilium. Expressed at postnatal day 2 at the apical tip of the rod photoreceptor cells, the site of the developing OS. Colocalized with rhodopsin between postnatal days 2 and 9 at the base of the growing OS region. Expressed in cone and rod photoreceptor cells (at protein level). Expressed in photoreceptor cells of the outer nuclear layer of the retina. Expressed in mitral and tufted cells in the olfactory bulb. Undergoes proteolytic cleavage; produces a soluble 95 kDa N- terminal fragment and a 25 kDa cell-associated C-terminal fragment. Mice have no obvious phenotype but show photoreceptor cell death as early as 1 month of age shortly after completion of retinal development. Its absence severely compromises the structure of OS which are disorganized and fragmented, but the consequences on photoreceptor electrical signaling are very mild. Proteolytic cleavage is partially inhibited in the absence of orderly OS assembly in mouse retinas lacking RDS/peripherin. Sequence=BAC41482.1; Type=Miscellaneous discrepancy; Note=Partially unspliced pre-RNA.; Evidence=; calcium ion binding protein binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules photoreceptor cell morphogenesis cellular process membrane integral component of membrane photoreceptor cell outer segment organization photoreceptor outer segment membrane photoreceptor cell maintenance uc007tbu.1 uc007tbu.2 uc007tbu.3 
ENSMUST00000022338.7 Rgr ENSMUST00000022338.7 retinal G protein coupled receptor, transcript variant 1 (from RefSeq NM_021340.4) ENSMUST00000022338.1 ENSMUST00000022338.2 ENSMUST00000022338.3 ENSMUST00000022338.4 ENSMUST00000022338.5 ENSMUST00000022338.6 NM_021340 Q9Z2B3 RGR_MOUSE uc007tbq.1 uc007tbq.2 uc007tbq.3 uc007tbq.4 The gene is a member of the opsin family of G-protein coupled receptors. The encoded protein is expressed in the retina, and acts as a photoisomerase to catalyze the conversion of all-trans-retinal to 11-cis-retinal. Disruption of a similar gene in human is associated with autosomal recessive (arRP) and autosomal dominant retinitis pigmentosa (adRP). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]. Receptor for all-trans- and 11-cis-retinal. Binds preferentially to the former and may catalyze the isomerization of the chromophore by a retinochrome-like mechanism (By similarity). Membrane; Multi-pass membrane protein. Covalently binds all-trans- and 11-cis-retinal. Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. photoreceptor outer segment G-protein coupled receptor activity integral component of plasma membrane signal transduction G-protein coupled receptor signaling pathway visual perception phototransduction G-protein coupled photoreceptor activity detection of visible light photoreceptor activity membrane integral component of membrane protein-chromophore linkage response to stimulus cellular response to light stimulus uc007tbq.1 uc007tbq.2 uc007tbq.3 uc007tbq.4 
ENSMUST00000022340.5 Nid2 ENSMUST00000022340.5 nidogen 2 (from RefSeq NM_008695.2) ENSMUST00000022340.1 ENSMUST00000022340.2 ENSMUST00000022340.3 ENSMUST00000022340.4 NID2_MOUSE NM_008695 O88322 Q7TQF0 uc007siu.1 uc007siu.2 uc007siu.3 Cell adhesion glycoprotein. Might be involved in osteoblast differentiation. It probably has a role in cell-extracellular matrix interactions. Interacts with LAMA2. Interacts with COL13A1 (By similarity). Interacts with EFEMP2 (PubMed:17324935). Secreted, extracellular space, extracellular matrix, basement membrane. Highly N- and O-glycosylated. extracellular matrix structural constituent calcium ion binding protein binding extracellular region basement membrane extracellular space plasma membrane cell adhesion cell-matrix adhesion cell surface extracellular matrix uc007siu.1 uc007siu.2 uc007siu.3 
ENSMUST00000022341.7 Rtraf ENSMUST00000022341.7 RNA transcription, translation and transport factor (from RefSeq NM_026528.3) ENSMUST00000022341.1 ENSMUST00000022341.2 ENSMUST00000022341.3 ENSMUST00000022341.4 ENSMUST00000022341.5 ENSMUST00000022341.6 NM_026528 Q9CQE8 RTRAF RTRAF_MOUSE uc007siv.1 uc007siv.2 uc007siv.3 RNA-binding protein involved in modulation of mRNA transcription by Polymerase II. Component of the tRNA-splicing ligase complex and is required for tRNA ligation. May be required for RNA transport. Homodimer. Interacts with FAM98A (via N- and C-terminus). Interacts with NIN; which may prevent phosphorylation of NIN. Interacts with POLR2A. Component of a tRNA-splicing ligase complex. Nucleus Cytoplasm, cytosol Cytoplasm, perinuclear region Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Note=May localize at the centrosome during mitosis. Shuttles between the cytosol and the nucleus: enters into the nucleus in case of active transcription while it accumulates in cytosol when transcription level is low (By similarity). Belongs to the RTRAF family. RNA polymerase II core binding RNA binding nucleus nucleoplasm cytoplasm centrosome microtubule organizing center cytosol cytoskeleton tRNA splicing, via endonucleolytic cleavage and ligation negative regulation of protein kinase activity identical protein binding positive regulation of transcription from RNA polymerase II promoter perinuclear region of cytoplasm tRNA-splicing ligase complex mitotic spindle uc007siv.1 uc007siv.2 uc007siv.3 
ENSMUST00000022343.6 Nudt13 ENSMUST00000022343.6 nudix hydrolase 13, transcript variant 2 (from RefSeq NM_026341.3) ENSMUST00000022343.1 ENSMUST00000022343.2 ENSMUST00000022343.3 ENSMUST00000022343.4 ENSMUST00000022343.5 NM_026341 NUD13_MOUSE Nudt13 Q8JZU0 Q9CXN4 uc007sjb.1 uc007sjb.2 uc007sjb.3 NAD(P)H pyrophosphatase that hydrolyzes NADH into NMNH and AMP, and NADPH into NMNH and 2',5'-ADP (PubMed:28755312). Has a marked preference for the reduced pyridine nucleotides (PubMed:28755312). Does not show activity toward NAD-capped RNAs; the NAD-cap is an atypical cap present at the 5'-end of some RNAs (PubMed:31101919). Reaction=H2O + NADH = AMP + 2 H(+) + reduced beta-nicotinamide D- ribonucleotide; Xref=Rhea:RHEA:48868, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57945, ChEBI:CHEBI:90832, ChEBI:CHEBI:456215; EC=3.6.1.22; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:48869; Evidence=; Reaction=H2O + NAD(+) = AMP + beta-nicotinamide D-ribonucleotide + 2 H(+); Xref=Rhea:RHEA:11800, ChEBI:CHEBI:14649, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:456215; EC=3.6.1.22; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11801; Evidence=; Reaction=H2O + NADPH = adenosine 2',5'-bisphosphate + 2 H(+) + reduced beta-nicotinamide D-ribonucleotide; Xref=Rhea:RHEA:60820, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57783, ChEBI:CHEBI:90832, ChEBI:CHEBI:194156; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60821; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Divalent metal cations. Mg(2+) or Mn(2+). ; Kinetic parameters: KM=0.34 mM for NADH ; Note=kcat is 7 sec(-1) for NADH. ; pH dependence: Optimum pH is 7.8-8.2. ; Mitochondrion Belongs to the Nudix hydrolase family. Sequence=AAH37091.1; Type=Erroneous initiation; Evidence=; Sequence=BAB29203.1; Type=Erroneous initiation; Evidence=; mitochondrion biological_process hydrolase activity metal ion binding uc007sjb.1 uc007sjb.2 uc007sjb.3 
ENSMUST00000022344.4 Ecd ENSMUST00000022344.4 ecdysoneless cell cycle regulator (from RefSeq NM_027475.3) ECD_MOUSE ENSMUST00000022344.1 ENSMUST00000022344.2 ENSMUST00000022344.3 NM_027475 Q9CS74 uc011zgo.1 uc011zgo.2 uc011zgo.3 Regulator of p53/TP53 stability and function. Inhibits MDM2- mediated degradation of p53/TP53 possibly by cooperating in part with TXNIP. May be involved transcriptional regulation. In vitro has intrinsic transactivation activity enhanced by EP300. May be a transcriptional activator required for the expression of glycolytic genes (By similarity). Involved in regulation of cell cycle progression (PubMed:26711270). Proposed to disrupt Rb-E2F binding leading to transcriptional activation of E2F proteins (PubMed:19640839). The cell cycle -regulating function may depend on its RUVBL1-mediated association with the R2TP complex. May play a role in regulation of pre-mRNA splicing (By similarity). Interacts with TP53, MDM2, TXNIP. Interacts (phosphorylated) with PIH1D1. Interacts with RUVBL1 mediating the PIH1D1-independent association with the R2TP complex. Interacts with RB1, RBL1 and RBL2; ECD competes with E2F1 for binding to hypophospshorylated RB1. Interacts with EP300. Q9CS74; Q9R000: Itgb1bp2; NbExp=2; IntAct=EBI-7922565, EBI-7922331; Cytoplasm. Nucleus Phosphorylated predominantly by CK2 on two serine-containing clusters; involved in cell cycle regulation activity. Embryonic lethal. Belongs to the ECD family. protein binding nucleus nucleoplasm cytoplasm cytosol mRNA processing cell proliferation RNA splicing histone acetyltransferase binding positive regulation of transcription from RNA polymerase II promoter regulation of G1/S transition of mitotic cell cycle uc011zgo.1 uc011zgo.2 uc011zgo.3 
ENSMUST00000022345.7 Dnajc9 ENSMUST00000022345.7 DnaJ heat shock protein family (Hsp40) member C9 (from RefSeq NM_134081.5) DNJC9_MOUSE ENSMUST00000022345.1 ENSMUST00000022345.2 ENSMUST00000022345.3 ENSMUST00000022345.4 ENSMUST00000022345.5 ENSMUST00000022345.6 NM_134081 Q3TSG3 Q8R0E3 Q91WN1 uc007sjn.1 uc007sjn.2 uc007sjn.3 Acts as a dual histone chaperone and heat shock co-chaperone (By similarity). As a histone chaperone, forms a co-chaperone complex with MCM2 and histone H3-H4 heterodimers; and may thereby assist MCM2 in histone H3-H4 heterodimer recognition and facilitate the assembly of histones into nucleosomes (By similarity). May also act as a histone co-chaperone together with TONSL (By similarity). May recruit histone chaperones ASF1A, NASP and SPT2 to histone H3-H4 heterodimers (By similarity). Also plays a role as co-chaperone of the HSP70 family of molecular chaperone proteins, such as HSPA1A, HSPA1B and HSPA8 (By similarity). As a co-chaperone, may play a role in the recruitment of HSP70-type molecular chaperone machinery to histone H3-H4 substrates, thereby maintaining the histone structural integrity (By similarity). Exhibits activity to assemble histones onto DNA in vitro (By similarity). Forms a co-chaperone complex with MCM2 and histone H3.3-H4 dimers (By similarity). Within the complex, interacts (via C-terminus) with MCM2 (via N-terminus); the interaction is histone-dependent (By similarity). Within the complex, interacts (via C-terminus) with histone H3.3-H4 heterodimers; the interaction is direct (By similarity). Interacts with histones H4, H3.3, H3.2 and H3.1, but not with CENPA or the testis-specific histone H3.1t (By similarity). Interacts (via J domain) with HSPA1A, HSPA1B and HSPA8 (By similarity). May interact with TONSL; the interaction seems to be histone-dependent (By similarity). May interact with HSPA8 and BAG2; the interactions seem to be histone-dependent (By similarity). Nucleus Cytoplasm Cell membrane Note=Predominantly nuclear. Translocates to the cytoplasm and membrane after heat shock. The functional J domain is required for the release from histone-dependent chromatin-binding. extracellular space nucleus nucleoplasm cytoplasm cytosol plasma membrane membrane heat shock protein binding positive regulation of ATPase activity uc007sjn.1 uc007sjn.2 uc007sjn.3 
ENSMUST00000022349.14 Cfap70 ENSMUST00000022349.14 cilia and flagella associated protein 70, transcript variant 1 (from RefSeq NM_001163638.1) B7ZNG2 B7ZNG3 CFA70_MOUSE Cfap70 D3YVL2 D3Z1K9 E9Q7X8 ENSMUST00000022349.1 ENSMUST00000022349.10 ENSMUST00000022349.11 ENSMUST00000022349.12 ENSMUST00000022349.13 ENSMUST00000022349.2 ENSMUST00000022349.3 ENSMUST00000022349.4 ENSMUST00000022349.5 ENSMUST00000022349.6 ENSMUST00000022349.7 ENSMUST00000022349.8 ENSMUST00000022349.9 NM_001163638 Ttc18 uc011zgq.1 uc011zgq.2 uc011zgq.3 Axoneme-binding protein that plays a role in the regulation of ciliary motility and cilium length. Cell projection, cilium, flagellum Cytoplasm, cytoskeleton, flagellum basal body Cell projection, cilium Cytoplasm, cytoskeleton, cilium axoneme Note=Present all along the flagellum, with a marked signal at the base of the flagellum. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=D3YVL2-1; Sequence=Displayed; Name=2; IsoId=D3YVL2-2; Sequence=VSP_060550; Name=3; IsoId=D3YVL2-3; Sequence=VSP_060549, VSP_060551; Detected in ependyma, trachea, lung, testis, and oviduct, but not in whole brain, liver, kidney, and spleen (PubMed:30158508). Localizes on the epithelial cilia and sperm flagella (at protein level) (PubMed:30158508). The conserved TPR domains are dispensable for ciliary targeting. The N-terminal half is important for cilary localization and/or binding to the axoneme. Belongs to the CFAP70 family. molecular_function biological_process uc011zgq.1 uc011zgq.2 uc011zgq.3 
ENSMUST00000022353.5 Mss51 ENSMUST00000022353.5 MSS51 mitochondrial translational activator (from RefSeq NM_029104.1) ENSMUST00000022353.1 ENSMUST00000022353.2 ENSMUST00000022353.3 ENSMUST00000022353.4 MSS51_MOUSE NM_029104 Q0VD61 Q9D5Z5 Zmynd17 uc007sjw.1 uc007sjw.2 uc007sjw.3 uc007sjw.4 Although no clear MSS51 ortholog is encoded in mammalian genomes, the mammalian MSS51/ZMYND17 protein is significantly similar. Considered by a number of resources to be the ortholog of yeast MSS51. molecular_function cellular_component biological_process metal ion binding uc007sjw.1 uc007sjw.2 uc007sjw.3 uc007sjw.4 
ENSMUST00000022356.12 Usp54 ENSMUST00000022356.12 ubiquitin specific peptidase 54, transcript variant 7 (from RefSeq NR_175348.1) ENSMUST00000022356.1 ENSMUST00000022356.10 ENSMUST00000022356.11 ENSMUST00000022356.2 ENSMUST00000022356.3 ENSMUST00000022356.4 ENSMUST00000022356.5 ENSMUST00000022356.6 ENSMUST00000022356.7 ENSMUST00000022356.8 ENSMUST00000022356.9 NR_175348 Q149D8 Q149D9 Q6NZE1 Q8BL06 Q8BZ28 Q9D2I9 UBP54_MOUSE uc288rgu.1 uc288rgu.2 Has no peptidase activity. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8BL06-1; Sequence=Displayed; Name=2; IsoId=Q8BL06-2; Sequence=VSP_020488, VSP_035679, VSP_035680; Name=3; IsoId=Q8BL06-3; Sequence=VSP_035679, VSP_035680; Belongs to the peptidase C19 family. Although the active site residues are conserved, lacks the conserved His residue which is normally found 9 residues before the catalytic His. Sequence=AAI17845.1; Type=Erroneous initiation; Evidence=; Sequence=AAI17846.1; Type=Erroneous initiation; Evidence=; Sequence=BAB31805.1; Type=Erroneous initiation; Evidence=; molecular_function cellular_component biological_process protein deubiquitination thiol-dependent ubiquitinyl hydrolase activity uc288rgu.1 uc288rgu.2 
ENSMUST00000022358.9 Zswim8 ENSMUST00000022358.9 zinc finger SWIM-type containing 8, transcript variant 1 (from RefSeq NM_027996.4) B2RX90 ENSMUST00000022358.1 ENSMUST00000022358.2 ENSMUST00000022358.3 ENSMUST00000022358.4 ENSMUST00000022358.5 ENSMUST00000022358.6 ENSMUST00000022358.7 ENSMUST00000022358.8 Kiaa0913 NM_027996 Q3UHH1 Q5U4B9 Q6PCY6 Q80Y41 Q8CE12 Q8CHC3 Q9D789 ZSWM8_MOUSE Zswim8 uc007sko.1 uc007sko.2 uc007sko.3 Substrate recognition component of a SCF-like E3 ubiquitin- protein ligase complex that promotes target-directed microRNA degradation (TDMD), a process that mediates degradation of microRNAs (miRNAs) (PubMed:33184237). The SCF-like E3 ubiquitin-protein ligase complex acts by catalyzing ubiquitination and subsequent degradation of AGO proteins (AGO1, AGO2, AGO3 and/or AGO4), thereby exposing miRNAs for degradation (By similarity). Specifically recognizes and binds AGO proteins when they are engaged with a TDMD target (By similarity). May also acts as a regulator of axon guidance: specifically recognizes misfolded ROBO3 and promotes its ubiquitination and subsequent degradation (By similarity). Protein modification; protein ubiquitination. Component of the SCF-like E3 ubiquitin-protein ligase complex which contains CUL3, RBX1, ELOB, ELOC and ZSWIM8. Cytoplasm, cytosol Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q3UHH1-1; Sequence=Displayed; Name=2; IsoId=Q3UHH1-2; Sequence=VSP_029595; Name=3; IsoId=Q3UHH1-3; Sequence=VSP_029598; Name=4; IsoId=Q3UHH1-4; Sequence=VSP_029592, VSP_029599, VSP_029600; Name=5; IsoId=Q3UHH1-5; Sequence=VSP_029593, VSP_029594, VSP_029596, VSP_029597; Belongs to the ZSWIM8 family. Sequence=BAB26298.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; molecular_function cytosol zinc ion binding Cul2-RING ubiquitin ligase complex metal ion binding regulation of axon guidance uc007sko.1 uc007sko.2 uc007sko.3 
ENSMUST00000022368.4 Plau ENSMUST00000022368.4 plasminogen activator, urokinase (from RefSeq NM_008873.3) ENSMUST00000022368.1 ENSMUST00000022368.2 ENSMUST00000022368.3 NM_008873 Plau Q0VBA8 Q0VBA8_MOUSE uc007skx.1 uc007skx.2 uc007skx.3 uc007skx.4 Specifically cleaves the zymogen plasminogen to form the active enzyme plasmin. Reaction=Specific cleavage of Arg-|-Val bond in plasminogen to form plasmin.; EC=3.4.21.73; Evidence=; Lacks conserved residue(s) required for the propagation of feature annotation. serine-type endopeptidase activity extracellular space proteolysis peptidase activity serine-type peptidase activity cell surface regulation of receptor activity regulation of smooth muscle cell migration kinase activity phosphorylation hydrolase activity positive regulation of cell migration plasminogen activation regulation of cell adhesion mediated by integrin regulation of smooth muscle cell-matrix adhesion uc007skx.1 uc007skx.2 uc007skx.3 uc007skx.4 
ENSMUST00000022369.9 Vcl ENSMUST00000022369.9 vinculin (from RefSeq NM_009502.5) ENSMUST00000022369.1 ENSMUST00000022369.2 ENSMUST00000022369.3 ENSMUST00000022369.4 ENSMUST00000022369.5 ENSMUST00000022369.6 ENSMUST00000022369.7 ENSMUST00000022369.8 NM_009502 Q64727 Q8BP32 Q8BS46 Q922C5 Q922D9 VINC_MOUSE uc007skz.1 uc007skz.2 uc007skz.3 Actin filament (F-actin)-binding protein involved in cell- matrix adhesion and cell-cell adhesion. Regulates cell-surface E- cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion (By similarity). Exhibits self-association properties. Part of a complex composed of THSD1, PTK2/FAK1, TLN1 and VCL (By similarity). Interacts with APBB1IP, NRAP and TLN1. Interacts with SYNM. Interacts with CTNNB1 and this interaction is necessary for its localization to the cell-cell junctions and for its function in regulating cell surface expression of E-cadherin (By similarity). Interacts with SORBS1 (PubMed:10085297). Interacts with SYNM (By similarity). Interacts with CTNNA1 (By similarity). Binds to ACTN4; this interaction triggers conformational changes (By similarity). Q64727; Q61210: Arhgef1; NbExp=3; IntAct=EBI-432047, EBI-641821; Q64727; Q8VI36: Pxn; NbExp=3; IntAct=EBI-432047, EBI-983394; Q64727; P39447: Tjp1; NbExp=8; IntAct=EBI-432047, EBI-79508; Q64727; P26039: Tln1; NbExp=2; IntAct=EBI-432047, EBI-1039593; Q64727; P49024: PXN; Xeno; NbExp=4; IntAct=EBI-432047, EBI-2896280; Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cell junction, adherens junction Cell junction, focal adhesion Cytoplasm, cytoskeleton Cell membrane, sarcolemma ; Peripheral membrane protein ; Cytoplasmic side Cell projection, podosome Note=Recruitment to cell-cell junctions occurs in a myosin II-dependent manner. Interaction with CTNNB1 is necessary for its localization to the cell-cell junctions. Exists in at least two conformations. When in the closed, 'inactive' conformation, extensive interactions between the head and tail domains prevent detectable binding to most of its ligands. It takes on an 'active' conformation after cooperative and simultaneous binding of two different ligands. This activation involves displacement of the head-tail interactions and leads to a significant accumulation of ternary complexes. The active form then binds a number of proteins that have both signaling and structural roles that are essential for cell adhesion. The N-terminal globular head (Vh) comprises of subdomains D1- D4. The C-terminal tail (Vt) binds F-actin and cross-links actin filaments into bundles. An intramolecular interaction between Vh and Vt masks the F-actin-binding domain located in Vt. The binding of talin and alpha-actinin to the D1 subdomain of vinculin induces a helical bundle conversion of this subdomain, leading to the disruption of the intramolecular interaction and the exposure of the cryptic F-actin- binding domain of Vt. Vt inhibits actin filament barbed end elongation without affecting the critical concentration of actin assembly. Phosphorylated; on serines, threonines and tyrosines. Phosphorylation on Tyr-1065 in activated platelets affects head-tail interactions and cell spreading but has no effect on actin binding nor on localization to focal adhesion plaques (By similarity). Acetylated; mainly by myristic acid but also by a small amount of palmitic acid. Belongs to the vinculin/alpha-catenin family. morphogenesis of an epithelium podosome dystroglycan binding actin binding structural molecule activity protein binding cytoplasm cytoskeleton plasma membrane brush border cell-cell junction adherens junction cell-cell adherens junction zonula adherens fascia adherens focal adhesion cell adhesion intercalated disc actin cytoskeleton membrane Rho GTPase binding Z disc lamellipodium assembly cell junction regulation of cell migration ubiquitin protein ligase binding macromolecular complex adherens junction assembly protein localization to cell surface sarcolemma costamere apical junction assembly membrane raft alpha-catenin binding axon extension actin filament binding epithelial cell-cell adhesion outer dense plaque of desmosome inner dense plaque of desmosome terminal web stress fiber actin filament uc007skz.1 uc007skz.2 uc007skz.3 
ENSMUST00000022377.11 Txndc16 ENSMUST00000022377.11 thioredoxin domain containing 16, transcript variant 2 (from RefSeq NM_172597.3) ENSMUST00000022377.1 ENSMUST00000022377.10 ENSMUST00000022377.2 ENSMUST00000022377.3 ENSMUST00000022377.4 ENSMUST00000022377.5 ENSMUST00000022377.6 ENSMUST00000022377.7 ENSMUST00000022377.8 ENSMUST00000022377.9 Kiaa1344 NM_172597 Q69ZL5 Q7TN22 Q8BL40 Q8R2W8 Q9CS82 TXD16_MOUSE Txndc16 uc007tge.1 uc007tge.2 uc007tge.3 Secreted Endoplasmic reticulum lumen Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7TN22-1; Sequence=Displayed; Name=2; IsoId=Q7TN22-2; Sequence=VSP_021364; Contains a masked and non-functional KDEL endoplasmic reticulum retrieval motif. Glycosylated. Sequence=BAD32431.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; molecular_function extracellular region endoplasmic reticulum endoplasmic reticulum lumen biological_process cell redox homeostasis uc007tge.1 uc007tge.2 uc007tge.3 
ENSMUST00000022378.9 Ero1a ENSMUST00000022378.9 endoplasmic reticulum oxidoreductase 1 alpha (from RefSeq NM_015774.3) ENSMUST00000022378.1 ENSMUST00000022378.2 ENSMUST00000022378.3 ENSMUST00000022378.4 ENSMUST00000022378.5 ENSMUST00000022378.6 ENSMUST00000022378.7 ENSMUST00000022378.8 ERO1A_MOUSE Ero1a Ero1l NM_015774 Q8R180 Q9CV47 Q9QY03 uc007tgm.1 uc007tgm.2 uc007tgm.3 This gene encodes a member of the endoplasmic reticulum oxidoreductin family. The encoded protein is localized to the endoplasmic reticulum and promotes the formation of disulfide bonds by oxidizing protein disulfide isomerase. This gene may play a role in endoplasmic reticulum stress-induced apoptosis and the cellular response to hypoxia. [provided by RefSeq, Feb 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.36336.1, AK142595.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164139, SAMN01164140 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. Required for the proper folding of immunoglobulins (By similarity). Plays an important role in ER stress-induced, CHOP-dependent apoptosis by activating the inositol 1,4,5-trisphosphate receptor IP3R1. Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence=; Enzyme activity is tightly regulated to prevent the accumulation of reactive oxygen species in the endoplasmic reticulum. Reversibly down-regulated by the formation of disulfide bonds between the active site Cys-94 and Cys-130, and between Cys-99 and Cys-104. Glutathione may be required to regulate its activity in the endoplasmic reticulum (By similarity). Predominantly monomer. May function both as a monomer and a homodimer. Interacts with PDILT. Interacts with ERP44; the interaction results in retention of ERO1A in the endoplasmic reticulum. Endoplasmic reticulum membrane ; Peripheral membrane protein ; Lumenal side Golgi apparatus lumen Secreted Cell projection, dendrite Note=The association with ERP44 is essential for its retention in the endoplasmic reticulum (By similarity). In neurons, it localizes to dendrites (By similarity). Widely expressed (at protein level) (PubMed:20308425). In the mammary gland, expressed at higher levels in lactating mice than in virgin mice (at protein level) (PubMed:29858230). Stimulated by hypoxia; suggesting that it is regulated via the HIF-pathway. By ER stress in a DDIT3/CHOP-dependent manner. N-glycosylated. The Cys-94/Cys-99 and Cys-390/Cys-393 disulfide bonds constitute the redox-active center. The Cys-94/Cys-99 disulfide bond may accept electron from P4HB and funnel them to the active site disulfide Cys- 390/Cys-393. The regulatory Cys-99/Cys-104 disulfide bond stabilizes the other regulatory bond Cys-94/Cys-130 (By similarity). Phosphorylated on Ser-144 by FAM20C in the Golgi which increases its enzymatic activity (By similarity). Phosphorylation is induced by lactation (PubMed:29858230). It is also induced by hypoxia and reductive stress (By similarity). Belongs to the EROs family. protein disulfide isomerase activity endoplasmic reticulum endoplasmic reticulum membrane protein folding apoptotic process animal organ senescence protein disulfide oxidoreductase activity membrane oxidoreductase activity oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor 4-hydroxyproline metabolic process protein maturation by protein folding integral component of endoplasmic reticulum membrane extracellular matrix organization dendrite endoplasmic reticulum unfolded protein response protein folding in endoplasmic reticulum response to endoplasmic reticulum stress cell redox homeostasis brown fat cell differentiation chaperone mediated protein folding requiring cofactor release of sequestered calcium ion into cytosol oxidation-reduction process intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress cellular response to hypoxia uc007tgm.1 uc007tgm.2 uc007tgm.3 
ENSMUST00000022380.9 Psmc6 ENSMUST00000022380.9 proteasome (prosome, macropain) 26S subunit, ATPase, 6, transcript variant 1 (from RefSeq NM_025959.4) ENSMUST00000022380.1 ENSMUST00000022380.2 ENSMUST00000022380.3 ENSMUST00000022380.4 ENSMUST00000022380.5 ENSMUST00000022380.6 ENSMUST00000022380.7 ENSMUST00000022380.8 NM_025959 Psmc6 Q14AQ1 Q14AQ1_MOUSE uc007tgn.1 uc007tgn.2 uc007tgn.3 Belongs to the AAA ATPase family. nucleotide binding proteasome complex ATP binding cytoplasm proteasome regulatory particle, base subcomplex inclusion body hydrolase activity ATPase activity protein catabolic process ER-associated ubiquitin-dependent protein catabolic process cytosolic proteasome complex positive regulation of inclusion body assembly uc007tgn.1 uc007tgn.2 uc007tgn.3 
ENSMUST00000022386.15 Samd4 ENSMUST00000022386.15 sterile alpha motif domain containing 4, transcript variant 1 (from RefSeq NM_001037221.2) A6H6C5 ENSMUST00000022386.1 ENSMUST00000022386.10 ENSMUST00000022386.11 ENSMUST00000022386.12 ENSMUST00000022386.13 ENSMUST00000022386.14 ENSMUST00000022386.2 ENSMUST00000022386.3 ENSMUST00000022386.4 ENSMUST00000022386.5 ENSMUST00000022386.6 ENSMUST00000022386.7 ENSMUST00000022386.8 ENSMUST00000022386.9 NM_001037221 Q2VA55 Q3TQA5 Q3TTN7 Q3UZ00 Q8CBY1 Q9D3T3 SMAG1_MOUSE Samd4a Smaug1 uc007thn.1 uc007thn.2 uc007thn.3 uc007thn.4 Acts as a translational repressor of SRE-containing messengers. Cytoplasm Cell projection, dendrite Synapse, synaptosome Note=Colocalizes throughout the cytoplasm in granules with polyadenylated RNAs, PABPC1 and STAU1. Also frequently colocalizes in cytoplasmic stress granule-like foci with ELAVL1, TIA1 and TIAL1. Shuttles between the nucleus and the cytoplasm in a CRM1-dependent manner (By similarity). Enriched in synaptoneurosomes. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8CBY1-1; Sequence=Displayed; Name=2; IsoId=Q8CBY1-2; Sequence=VSP_037782; Name=3; IsoId=Q8CBY1-3; Sequence=VSP_037783; Name=4; IsoId=Q8CBY1-4; Sequence=VSP_037781; Expressed in brain (at protein level). Belongs to the SMAUG family. Sequence=ABB83932.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence=; nuclear-transcribed mRNA poly(A) tail shortening P-body fibrillar center RNA binding mRNA binding cytoplasm cytosol regulation of translation negative regulation of translation cell junction translation repressor activity dendrite cell projection neuron projection regulation of mRNA stability synapse positive regulation of translation uc007thn.1 uc007thn.2 uc007thn.3 uc007thn.4 
ENSMUST00000022416.15 Anxa11 ENSMUST00000022416.15 annexin A11 (from RefSeq NM_013469.2) ANX11_MOUSE Anx11 ENSMUST00000022416.1 ENSMUST00000022416.10 ENSMUST00000022416.11 ENSMUST00000022416.12 ENSMUST00000022416.13 ENSMUST00000022416.14 ENSMUST00000022416.2 ENSMUST00000022416.3 ENSMUST00000022416.4 ENSMUST00000022416.5 ENSMUST00000022416.6 ENSMUST00000022416.7 ENSMUST00000022416.8 ENSMUST00000022416.9 NM_013469 P97384 Q921F1 uc007srv.1 uc007srv.2 uc007srv.3 uc007srv.4 Required for midbody formation and completion of the terminal phase of cytokinesis (By similarity). Binds specifically to calcyclin in a calcium-dependent manner. Interacts with S100A6. Interacts with PDCD6 in a calcium- dependent manner. Interacts with KIF23 during cytokinesis. Cytoplasm Melanosome Nucleus envelope Nucleus, nucleoplasm Cytoplasm, cytoskeleton, spindle Note=Found throughout the nucleoplasm at interphase and during mitosis concentrates around the mitotic apparatus. Elevation of intracellular calcium causes relocalization from the nucleoplasm to the nuclear envelope, with little effect on the cytoplasmic pool. Localization to the nuclear envelope is cell-cycle dependent. A pair of annexin repeats may form one binding site for calcium and phospholipid. Belongs to the annexin family. calcium ion binding calcium-dependent phospholipid binding nucleus nuclear envelope nucleoplasm cytoplasm spindle cytosol cytoskeleton phagocytosis cell cycle phosphatidylethanolamine binding midbody cytokinetic process melanosome specific granule azurophil granule S100 protein binding phagocytic vesicle calcium-dependent protein binding cell division response to calcium ion uc007srv.1 uc007srv.2 uc007srv.3 uc007srv.4 
ENSMUST00000022419.7 Ppif ENSMUST00000022419.7 peptidylprolyl isomerase F (cyclophilin F) (from RefSeq NM_134084.1) ENSMUST00000022419.1 ENSMUST00000022419.2 ENSMUST00000022419.3 ENSMUST00000022419.4 ENSMUST00000022419.5 ENSMUST00000022419.6 NM_134084 PPIF_MOUSE Q99KR7 uc007srr.1 uc007srr.2 uc007srr.3 PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding (By similarity). Involved in regulation of the mitochondrial permeability transition pore (mPTP) (PubMed:15800626, PubMed:15800627, PubMed:16103352, PubMed:18684715, PubMed:31489369). It is proposed that its association with the mPTP is masking a binding site for inhibiting inorganic phosphate (Pi) and promotes the open probability of the mPTP leading to apoptosis or necrosis; the requirement of the PPIase activity for this function is debated (PubMed:15800626, PubMed:15800627, PubMed:16103352, PubMed:18684715, PubMed:31489369). In cooperation with mitochondrial p53/TP53 is involved in activating oxidative stress-induced necrosis (PubMed:22726440). Involved in modulation of mitochondrial membrane F(1)F(0) ATP synthase activity and regulation of mitochondrial matrix adenine nucleotide levels (PubMed:19801635, PubMed:21281446). Has anti-apoptotic activity independently of mPTP and in cooperation with BCL2 inhibits cytochrome c-dependent apoptosis (By similarity). Reaction=[protein]-peptidylproline (omega=180) = [protein]- peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA- COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8; Evidence=; Binds cyclosporin A (CsA). Is displaced by CsA from the mPTP leading to a lower open probability of the mPTP. Associates with the mitochondrial membrane ATP synthase F(1)F(0) ATP synthase; the association is increased by inorganic phosphate (Pi) and decreased by cyclosporin A (CsA) (PubMed:19801635). Interacts with ATP5F1B; ATP5PD and ATP5PO (PubMed:21281446). Interacts with SLC25A3; the interaction is impaired by CsA (By similarity). Interacts with BCL2; the interaction is impaired by CsA. Interacts with TP53; the association implicates preferentially tetrameric TP53, is induced by oxidative stress and is impaired by CsA (PubMed:22726440). Interacts with C1QBP (PubMed:20950273). Interacts with MCUR1 (By similarity). Component of the mitochondrial permeability transition pore complex (mPTPC), at least composed of SPG7, VDAC1 and PPIF (By similarity). Interacts with SPG7 (By similarity). Q99KR7; P02340: Tp53; NbExp=2; IntAct=EBI-6455001, EBI-474016; Q99KR7; P01023: A2M; Xeno; NbExp=3; IntAct=EBI-6455001, EBI-640741; Q99KR7; P50570-2: DNM2; Xeno; NbExp=3; IntAct=EBI-6455001, EBI-10968534; Q99KR7; P42858: HTT; Xeno; NbExp=3; IntAct=EBI-6455001, EBI-466029; Mitochondrion matrix Acetylated at Lys-166; deacetylated at Lys-166 by SIRT3. Mice are developmentally normal and show no apparent anomalies (PubMed:15800626, PubMed:15800627, PubMed:16103352). Mitochondria do not undergo cyclosporin A-sensitive mitochondrial permeability transtition (PubMed:15800626, PubMed:15800627, PubMed:16103352). Cells show resistance to necrotic cell death induced by reactive oxygen species and Ca(2+) overload, and animals show a high level of resistance to ischaemia/reperfusion-induced cardiac injury (PubMed:15800626, PubMed:15800627, PubMed:16103352). Mice show a dramatic reduction in brain infarct size after acute middle cerebral artery occlusion and reperfusion (PubMed:15800626, PubMed:15800627, PubMed:16103352). Mice lacking Slc25a4/Ant1, Slc25a5/Ant2, Slc25a31/Ant4 and Ppif lack Ca(2+)-induced mitochondrial permeability transition pore (mPTP) formation (PubMed:31489369). Belongs to the cyclophilin-type PPIase family. protein peptidyl-prolyl isomerization response to ischemia peptidyl-prolyl cis-trans isomerase activity protein binding mitochondrion mitochondrial inner membrane mitochondrial permeability transition pore complex mitochondrial matrix protein folding apoptotic process response to oxidative stress apoptotic mitochondrial changes regulation of proton-transporting ATPase activity, rotational mechanism regulation of necrotic cell death programmed cell death cyclosporin A binding isomerase activity negative regulation of ATPase activity protein refolding peptide binding regulation of apoptotic process negative regulation of apoptotic process regulation of mitochondrial membrane permeability unfolded protein binding necroptotic process cellular response to hydrogen peroxide cellular response to arsenic-containing substance cellular response to calcium ion positive regulation of release of cytochrome c from mitochondria negative regulation of release of cytochrome c from mitochondria negative regulation of oxidative phosphorylation regulation of mitochondrial membrane permeability involved in programmed necrotic cell death mitochondrial outer membrane permeabilization involved in programmed cell death negative regulation of oxidative phosphorylation uncoupler activity negative regulation of intrinsic apoptotic signaling pathway mitochondrial proton-transporting ATP synthase complex uc007srr.1 uc007srr.2 uc007srr.3 
ENSMUST00000022428.13 Rnase4 ENSMUST00000022428.13 ribonuclease, RNase A family 4, transcript variant 1 (from RefSeq NM_021472.4) ENSMUST00000022428.1 ENSMUST00000022428.10 ENSMUST00000022428.11 ENSMUST00000022428.12 ENSMUST00000022428.2 ENSMUST00000022428.3 ENSMUST00000022428.4 ENSMUST00000022428.5 ENSMUST00000022428.6 ENSMUST00000022428.7 ENSMUST00000022428.8 ENSMUST00000022428.9 NM_021472 Q8C7E4 Q8C7E4_MOUSE Rab1 Rnase4 uc007tmm.1 uc007tmm.2 uc007tmm.3 uc007tmm.4 This gene encodes a member of the pancreatic ribonuclease A superfamily. The encoded enzyme is sereted and has unique uridine specificity. This gene resides in a cluster of highly related genes. It shares dual promoters and 5' exons with the angiogenin, ribonuclease, RNase A family, 5 gene. Each gene splices to a unique downstream exon that contains its complete coding region. Two alternatively spliced variants, with different 5' exons but the same coding exon, have been identified. [provided by RefSeq, Jun 2009]. Belongs to the pancreatic ribonuclease family. nucleic acid binding nuclease activity endonuclease activity extracellular region hydrolase activity nucleic acid phosphodiester bond hydrolysis uc007tmm.1 uc007tmm.2 uc007tmm.3 uc007tmm.4 
ENSMUST00000022429.9 Arf4 ENSMUST00000022429.9 ADP-ribosylation factor 4 (from RefSeq NM_007479.4) Arf4 ENSMUST00000022429.1 ENSMUST00000022429.2 ENSMUST00000022429.3 ENSMUST00000022429.4 ENSMUST00000022429.5 ENSMUST00000022429.6 ENSMUST00000022429.7 ENSMUST00000022429.8 NM_007479 Q14BR4 Q14BR4_MOUSE uc007sta.1 uc007sta.2 uc007sta.3 GTP-binding protein involved in protein trafficking; modulates vesicle budding and uncoating within the Golgi apparatus. Forms a complex containing RAB11A, ASAP1, RAB3IP, RAP11FIP3 and ARF4; the complex promotes preciliary trafficking; the complex binds to RHO in photoreceptor cells and promotes RHO ciliary transport. Golgi apparatus Belongs to the small GTPase superfamily. Arf family. nucleotide binding epidermal growth factor receptor binding GTP binding cytosol protein ADP-ribosylation retrograde vesicle-mediated transport, Golgi to ER epidermal growth factor receptor signaling pathway brain development cell migration activation of phospholipase D activity ruffle membrane negative regulation of apoptotic process dendritic spine positive regulation of transcription from RNA polymerase II promoter response to axon injury dendritic spine development regulation of reactive oxygen species metabolic process uc007sta.1 uc007sta.2 uc007sta.3 
ENSMUST00000022433.12 Dnah12 ENSMUST00000022433.12 dynein, axonemal, heavy chain 12 (from RefSeq NM_001370884.1) Dnah12 Dnahc12 E9QPU2 E9QPU2_MOUSE ENSMUST00000022433.1 ENSMUST00000022433.10 ENSMUST00000022433.11 ENSMUST00000022433.2 ENSMUST00000022433.3 ENSMUST00000022433.4 ENSMUST00000022433.5 ENSMUST00000022433.6 ENSMUST00000022433.7 ENSMUST00000022433.8 ENSMUST00000022433.9 NM_001370884 uc007stc.1 uc007stc.2 uc007stc.3 Belongs to the dynein heavy chain family. microtubule motor activity ATP binding microtubule-based movement uc007stc.1 uc007stc.2 uc007stc.3 
ENSMUST00000022437.16 Hacl1 ENSMUST00000022437.16 2-hydroxyacyl-CoA lyase 1 (from RefSeq NM_019975.3) ENSMUST00000022437.1 ENSMUST00000022437.10 ENSMUST00000022437.11 ENSMUST00000022437.12 ENSMUST00000022437.13 ENSMUST00000022437.14 ENSMUST00000022437.15 ENSMUST00000022437.2 ENSMUST00000022437.3 ENSMUST00000022437.4 ENSMUST00000022437.5 ENSMUST00000022437.6 ENSMUST00000022437.7 ENSMUST00000022437.8 ENSMUST00000022437.9 HACL1_MOUSE Hpcl NM_019975 Phyh2 Q543K1 Q9DAV1 Q9QXE0 uc007sxx.1 uc007sxx.2 uc007sxx.3 uc007sxx.4 Peroxisomal 2-OH acyl-CoA lyase involved in the cleavage (C1 removal) reaction in the fatty acid alpha-oxydation in a thiamine pyrophosphate (TPP)-dependent manner (By similarity). Involved in the degradation of 3-methyl-branched fatty acids like phytanic acid and the shortening of 2-hydroxy long-chain fatty acids (By similarity). Plays a significant role in the biosynthesis of heptadecanal in the liver (PubMed:29027957). Reaction=a 2-hydroxy-3-methyl fatty acyl-CoA = a 2-methyl-branched fatty aldehyde + formyl-CoA; Xref=Rhea:RHEA:25375, ChEBI:CHEBI:49188, ChEBI:CHEBI:57376, ChEBI:CHEBI:58783; EC=4.1.2.63; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:25376; Evidence=; Reaction=an (R)-2-hydroxy-long-chain-fatty acyl-CoA = a long-chain fatty aldehyde + formyl-CoA; Xref=Rhea:RHEA:67444, ChEBI:CHEBI:17176, ChEBI:CHEBI:57376, ChEBI:CHEBI:170012; EC=4.1.2.63; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:67445; Evidence=; Reaction=2-hydroxy-3-methylhexadecanoyl-CoA = 2-methylpentadecanal + formyl-CoA; Xref=Rhea:RHEA:25379, ChEBI:CHEBI:49190, ChEBI:CHEBI:57376, ChEBI:CHEBI:58784; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:25380; Evidence=; Reaction=2-hydroxyoctadecanoyl-CoA = formyl-CoA + heptadecanal; Xref=Rhea:RHEA:55196, ChEBI:CHEBI:57376, ChEBI:CHEBI:74116, ChEBI:CHEBI:138631; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55197; Evidence=; Reaction=2-hydroxyphytanoyl-CoA = 2,6,10,14-tetramethylpentadecanal + formyl-CoA; Xref=Rhea:RHEA:25355, ChEBI:CHEBI:49189, ChEBI:CHEBI:57334, ChEBI:CHEBI:57376; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:25356; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Note=Binds 1 Mg(2+) ion per subunit. ; Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937; Evidence=; Note=Binds 1 thiamine pyrophosphate per subunit. ; Lipid metabolism; fatty acid metabolism. Homotetramer. Peroxisome Predominanly expressed in liver. Mice are viable and fertile and show no abnormal phenotype (PubMed:28629946, PubMed:29027957). However, upon dietary administration of phytol, phytanic acid accumulated in tissues, mainly in liver and serum of deficient mice. As a consequence of phytanic acid (or a metabolite) toxicity, deficent mice display a significant weight loss, absence of abdominal white adipose tissue, enlarged and mottled liver and reduced hepatic glycogen and triglyceride (PubMed:28629946). The presence of an other lyase, probably HCL2, can partially compensate for the lost of HCL1 (PubMed:28629946). Belongs to the TPP enzyme family. magnesium ion binding fatty acid alpha-oxidation catalytic activity peroxisome lipid metabolic process fatty acid metabolic process lyase activity carbon-carbon lyase activity thiamine pyrophosphate binding identical protein binding metal ion binding cofactor binding protein oligomerization uc007sxx.1 uc007sxx.2 uc007sxx.3 uc007sxx.4 
ENSMUST00000022446.7 Eaf1 ENSMUST00000022446.7 ELL associated factor 1 (from RefSeq NM_028932.4) EAF1_MOUSE ENSMUST00000022446.1 ENSMUST00000022446.2 ENSMUST00000022446.3 ENSMUST00000022446.4 ENSMUST00000022446.5 ENSMUST00000022446.6 NM_028932 Q9D4C5 uc007sxt.1 uc007sxt.2 uc007sxt.3 uc007sxt.4 Acts as a transcriptional transactivator of ELL and ELL2 elongation activities. Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3). Interacts with ELL and ELL2 (By similarity). Nucleus speckle Nucleus, Cajal body Belongs to the EAF family. nucleus nucleoplasm regulation of transcription, DNA-templated transcription elongation factor complex transcription factor binding Cajal body nuclear body nuclear speck ELL-EAF complex intracellular membrane-bounded organelle intercellular bridge positive regulation of transcription from RNA polymerase II promoter uc007sxt.1 uc007sxt.2 uc007sxt.3 uc007sxt.4 
ENSMUST00000022450.6 Tasor ENSMUST00000022450.6 transcription activation suppressor, transcript variant 2 (from RefSeq NM_028945.3) D14Abb1e E9PUH2 ENSMUST00000022450.1 ENSMUST00000022450.2 ENSMUST00000022450.3 ENSMUST00000022450.4 ENSMUST00000022450.5 Fam208a Kiaa1105 NM_028945 Q69ZR9 Q9CUD3 TASOR_MOUSE Tasor uc007stu.1 uc007stu.2 uc007stu.3 uc007stu.4 uc007stu.5 Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3, as well as MORC2. Also represses L1 retrotransposons in collaboration with MORC2 and, probably, SETDB1, the silencing is dependent of repressive epigenetic modifications, such as H3K9me3 mark. Silencing events often occur within introns of transcriptionally active genes, and lead to the down-regulation of host gene expression. The HUSH complex is also involved in the silencing of unintegrated retroviral DNA by being recruited by ZNF638: some part of the retroviral DNA formed immediately after infection remains unintegrated in the host genome and is transcriptionally repressed (By similarity). Plays a crucial role in early embryonic development (PubMed:31112734, PubMed:24781204, PubMed:28839193). Involved in the organization of spindle poles and spindle apparatus assembly during zygotic division (PubMed:31112734). Plays an important role in maintaining epiblast fitness or potency (PubMed:28839193). Component of the HUSH complex; at least composed of TASOR, PPHLN1 and MPHOSPH8 (By similarity). Interacts with MORC2; the interaction associateS MORC2 with the HUSH complex which recruits MORC2 to heterochromatic loci (By similarity). Interacts with ZNF638; leading to recruitment of the HUSH complex to unintegrated retroviral DNA (By similarity). Interacts with INPP5A, EML1, SV1L, GPSM2, ITGB3BP, CNTN1, ETFA, PSMD8, S100A10, MPHOSPH8, TMEM100, ALB, PARPBP, HCFC2, NCBP1 and SETDB1 (PubMed:31112734). Nucleus Chromosome Note=Localizes to chromatin. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q69ZR9-1; Sequence=Displayed; Name=2; IsoId=Q69ZR9-2; Sequence=VSP_042114, VSP_042115, VSP_042116, VSP_042117; Present in skin, brain and testis (at protein level) (PubMed:24781204). Ubiquitously expressed at low levels in the majority of the organs, expressed at higher levels in kidneys, spleen, thymus, seminal vesicles, uterus, and ovaries and its expression is almost six times higher in male tissues than in females (PubMed:31112734). Highly expressed in seminiferous tubules with a strong signal in Sertoli cells, spermatogonia, and spermatocytes (PubMed:31112734). Expressed in the epiblast at 5.5 dpc, expression extends into the extraembryonic ectoderm at 6.5 dpc, and at 7.5 dpc expressed in embryonic ectoderm, allantois, amnion and chorion. From 8.5 to 9.5 dpc, ubiquitously expressed in the developing embryo. Embryonic lethality with robust developmentally delayed phenotype observed at 8.5 dpc, progressing through 9.5 dpc with full lethality by 12.5 dpc (PubMed:24781204, PubMed:28839193). RNAi- mediated knockdown in zygotes results in formation of multipolar spindles and increased ratio of arrested or incorrectly developed embryos (PubMed:28839193). Belongs to the TASOR family. heterochromatin chromatin binding nucleus nucleoplasm chromosome negative regulation of gene expression, epigenetic negative regulation of single stranded viral RNA replication via double stranded DNA intermediate positive regulation of methylation-dependent chromatin silencing protein localization to heterochromatin uc007stu.1 uc007stu.2 uc007stu.3 uc007stu.4 uc007stu.5 
ENSMUST00000022451.14 Capn7 ENSMUST00000022451.14 calpain 7, transcript variant 1 (from RefSeq NM_009796.4) CAN7_MOUSE ENSMUST00000022451.1 ENSMUST00000022451.10 ENSMUST00000022451.11 ENSMUST00000022451.12 ENSMUST00000022451.13 ENSMUST00000022451.2 ENSMUST00000022451.3 ENSMUST00000022451.4 ENSMUST00000022451.5 ENSMUST00000022451.6 ENSMUST00000022451.7 ENSMUST00000022451.8 ENSMUST00000022451.9 NM_009796 Palbh Q9R1S8 Q9Z0P9 uc007sxm.1 uc007sxm.2 uc007sxm.3 uc007sxm.4 Calcium-regulated non-lysosomal thiol-protease. Nucleus Ubiquitous. Belongs to the peptidase C2 family. Sequence=CAB39203.1; Type=Erroneous initiation; Evidence=; endopeptidase activity calcium-dependent cysteine-type endopeptidase activity nucleus proteolysis peptidase activity cysteine-type peptidase activity positive regulation of epithelial cell migration hydrolase activity MIT domain binding self proteolysis uc007sxm.1 uc007sxm.2 uc007sxm.3 uc007sxm.4 
ENSMUST00000022458.11 Bap1 ENSMUST00000022458.11 Brca1 associated protein 1 (from RefSeq NM_027088.2) BAP1_MOUSE ENSMUST00000022458.1 ENSMUST00000022458.10 ENSMUST00000022458.2 ENSMUST00000022458.3 ENSMUST00000022458.4 ENSMUST00000022458.5 ENSMUST00000022458.6 ENSMUST00000022458.7 ENSMUST00000022458.8 ENSMUST00000022458.9 Kiaa0272 NM_027088 Q3TCR6 Q6ZQE6 Q99PU7 uc007sxh.1 uc007sxh.2 uc007sxh.3 Deubiquitinating enzyme that plays a key role in chromatin by mediating deubiquitination of histone H2A and HCFC1. Catalytic component of the PR-DUB complex, a complex that specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1). Does not deubiquitinate monoubiquitinated histone H2B. Acts as a regulator of cell growth by mediating deubiquitination of HCFC1 N-terminal and C-terminal chains, with some specificity toward 'Lys-48'-linked polyubiquitin chains compared to 'Lys-63'-linked polyubiquitin chains. Deubiquitination of HCFC1 does not lead to increase stability of HCFC1. Interferes with the BRCA1 and BARD1 heterodimer activity by inhibiting their ability to mediate ubiquitination and autoubiquitination. It however does not mediate deubiquitination of BRCA1 and BARD1. Able to mediate autodeubiquitination via intramolecular interactions to couteract monoubiquitination at the nuclear localization signal (NLS), thereby protecting it from cytoplasmic sequestration. Acts as a tumor suppressor. Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76- residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Evidence=; Component of the PR-DUB complex, at least composed of BAP1 and ASXL1. Interacts with BRCA1 (via the RING finger). Interacts (via HBM- like motif) with HCFC1. Interacts (when phosphorylated at Thr-492) with FOXK1. Interacts (when phosphorylated at Thr-492) with FOXK2; leading to recruit the PR-DUB complex and repress FOXK2 target genes. Cytoplasm Nucleus Note=Mainly nuclear. Binds to chromatin. Localizes to the cytoplasm when monoubiquitinated by the E2/E3 hybrid ubiquitin-protein ligase UBE2O. Highly expressed in mammary glands, testis and ovary. Up-regulated in mammary glands during puberty, pregnancy, and as a result of parity. Ubiquitinated: monoubiquitinated at multiple site of its nuclear localization signal (NLS) BY UBE2O, leading to cytoplasmic retention. Able to mediate autodeubiquitination via intramolecular interactions to couteract cytoplasmic retention. Has the ability to ability to suppress tumorigenicity when expressed in NCI-H226 cells. Belongs to the peptidase C12 family. BAP1 subfamily. Sequence=BAC97918.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; regulation of cell growth chromatin binding thiol-dependent ubiquitin-specific protease activity protein binding nucleus nucleoplasm cytoplasm cytosol chromatin organization proteolysis ubiquitin-dependent protein catabolic process peptidase activity cysteine-type peptidase activity negative regulation of cell proliferation response to inorganic substance protein deubiquitination hydrolase activity PR-DUB complex monoubiquitinated protein deubiquitination monoubiquitinated histone H2A deubiquitination thiol-dependent ubiquitinyl hydrolase activity negative regulation of transcription, DNA-templated regulation of inflammatory response regulation of cell cycle macrophage homeostasis protein K48-linked deubiquitination regulation of cytokine production involved in inflammatory response uc007sxh.1 uc007sxh.2 uc007sxh.3 
ENSMUST00000022459.5 Phf7 ENSMUST00000022459.5 PHD finger protein 7, transcript variant 5 (from RefSeq NR_153761.1) ENSMUST00000022459.1 ENSMUST00000022459.2 ENSMUST00000022459.3 ENSMUST00000022459.4 NR_153761 PHF7_MOUSE Q6PG81 Q9DAG9 uc007sxf.1 uc007sxf.2 uc007sxf.3 May play a role in spermatogenesis. Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9DAG9-1; Sequence=Displayed; Name=2; IsoId=Q9DAG9-2; Sequence=VSP_013491; Highly expressed in Sertoli cells in testis. Expression levels increase during the first 4 weeks after birth and remain constant during the following 3 weeks. nucleus nucleoplasm Golgi apparatus cytosol plasma membrane biological_process nuclear speck metal ion binding uc007sxf.1 uc007sxf.2 uc007sxf.3 
ENSMUST00000022460.11 Galnt15 ENSMUST00000022460.11 polypeptide N-acetylgalactosaminyltransferase 15 (from RefSeq NM_030166.3) A3KN88 ENSMUST00000022460.1 ENSMUST00000022460.10 ENSMUST00000022460.2 ENSMUST00000022460.3 ENSMUST00000022460.4 ENSMUST00000022460.5 ENSMUST00000022460.6 ENSMUST00000022460.7 ENSMUST00000022460.8 ENSMUST00000022460.9 GLT15_MOUSE Galntl2 NM_030166 Q9D2N8 uc007syb.1 uc007syb.2 uc007syb.3 Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Although it displays a much weaker activity toward all substrates tested compared to GALNT2, it is able to transfer up to seven GalNAc residues to the Muc5AC peptide, suggesting that it can fill vicinal Thr/Ser residues in cooperation with other GALNT proteins. Prefers Muc1a as substrate (By similarity). Reaction=L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3-O- [N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:23956, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:12788, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:53604, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138; EC=2.4.1.41; Reaction=L-threonyl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = 3- O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:52424, Rhea:RHEA-COMP:11060, Rhea:RHEA- COMP:11689, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:87075; EC=2.4.1.41; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Protein modification; protein glycosylation. Golgi apparatus membrane ; Single- pass type II membrane protein Specifically expressed in testis. There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding. The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity. Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily. Name=Functional Glycomics Gateway - GTase; Note=Polypeptide N-acetylgalactosaminyltransferase-like protein 2; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_mou_527"; Golgi membrane molecular_function polypeptide N-acetylgalactosaminyltransferase activity Golgi apparatus protein glycosylation biological_process membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups transport vesicle carbohydrate binding metal ion binding uc007syb.1 uc007syb.2 uc007syb.3 
ENSMUST00000022461.11 Dph3 ENSMUST00000022461.11 diphthamine biosynthesis 3, transcript variant 3 (from RefSeq NM_001284346.1) DPH3_MOUSE Desr1 Dph3 ENSMUST00000022461.1 ENSMUST00000022461.10 ENSMUST00000022461.2 ENSMUST00000022461.3 ENSMUST00000022461.4 ENSMUST00000022461.5 ENSMUST00000022461.6 ENSMUST00000022461.7 ENSMUST00000022461.8 ENSMUST00000022461.9 NM_001284346 Q8K0W9 Zcsl2 uc007sye.1 uc007sye.2 uc007sye.3 uc007sye.4 Required for the first step of diphthamide biosynthesis, a post-translational modification of histidine which occurs in elongation factor 2. DPH1 and DPH2 transfer a 3-amino-3-carboxypropyl (ACP) group from S-adenosyl-L-methionine (SAM) to a histidine residue, the reaction is assisted by a reduction system comprising DPH3 and a NADH-dependent reductase. Acts as an electron donor to reduce the Fe-S cluster in DPH1-DPH2 keeping the [4Fe-4S] clusters in the active and reduced state. Restores iron to DPH1-DPH2 iron-sulfur clusters which have degraded from [4Fe-4S] to [3Fe-4S] by donating an iron atom to reform [4Fe-4S] clusters, in a manner dependent on the presence of elongation factor 2 and SAM. Associates with the elongator complex and is required for tRNA Wobble base modifications mediated by the elongator complex. The elongator complex is required for multiple tRNA modifications, including mcm5U (5-methoxycarbonylmethyl uridine), mcm5s 2U (5- methoxycarbonylmethyl-2-thiouridine), and ncm5U (5-carbamoylmethyl uridine). Reaction=[3Fe-4S](1+)-[protein] + Fe(2+)-[Dph3] = [3Fe-4S](0)-[protein] + Fe(3+)-[Dph3]; Xref=Rhea:RHEA:71235, Rhea:RHEA-COMP:17996, Rhea:RHEA-COMP:17997, Rhea:RHEA-COMP:18002, Rhea:RHEA-COMP:18003, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034, ChEBI:CHEBI:33751, ChEBI:CHEBI:47402, ChEBI:CHEBI:83228; Evidence=; Reaction=2 [3Fe-4S](0)-[protein] + 2 Fe(2+)-[Dph3] + NADH = 2 [4Fe- 4S](1+)-[protein] + 2 [Dph3] + H(+) + NAD(+); Xref=Rhea:RHEA:71239, Rhea:RHEA-COMP:17997, Rhea:RHEA-COMP:17998, Rhea:RHEA-COMP:18001, Rhea:RHEA-COMP:18002, ChEBI:CHEBI:15378, ChEBI:CHEBI:29033, ChEBI:CHEBI:33723, ChEBI:CHEBI:47402, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:83228; Evidence=; Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; Protein modification; peptidyl-diphthamide biosynthesis. Component of the 2-(3-amino-3-carboxypropyl)histidine synthase complex composed of DPH1, DPH2, DPH3 and a NADH-dependent reductase (By similarity). Interacts with SERGEF (By similarity). Cytoplasm Nucleus Widely expressed with highest levels in heart, liver, kidney and testis. In the embryo, expressed during all stages of development. The DPH-type metal-binding (MB) domain can also bind zinc. However, iron is the physiological binding partner as zinc binding impairs the protein electron donor function. Embryonic lethal about 11.5 days after fertilization (PubMed:16648478). Decreases metastasis in a mouse model of melanoma (PubMed:23185508). Belongs to the DPH3 family. tRNA wobble uridine modification nucleus nucleoplasm cytoplasm cytosol peptidyl-diphthamide biosynthetic process from peptidyl-histidine metal ion binding negative regulation of protein secretion positive regulation of binding uc007sye.1 uc007sye.2 uc007sye.3 uc007sye.4 
ENSMUST00000022462.14 Oxnad1 ENSMUST00000022462.14 oxidoreductase NAD-binding domain containing 1 (from RefSeq NM_145460.2) ENSMUST00000022462.1 ENSMUST00000022462.10 ENSMUST00000022462.11 ENSMUST00000022462.12 ENSMUST00000022462.13 ENSMUST00000022462.2 ENSMUST00000022462.3 ENSMUST00000022462.4 ENSMUST00000022462.5 ENSMUST00000022462.6 ENSMUST00000022462.7 ENSMUST00000022462.8 ENSMUST00000022462.9 NM_145460 OXND1_MOUSE Q3UT09 Q8C093 Q8VE38 uc007syg.1 uc007syg.2 uc007syg.3 uc007syg.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8VE38-1; Sequence=Displayed; Name=2; IsoId=Q8VE38-2; Sequence=VSP_027765; mitochondrion oxidoreductase activity oxidation-reduction process uc007syg.1 uc007syg.2 uc007syg.3 uc007syg.4 
ENSMUST00000022464.14 Msmb ENSMUST00000022464.14 beta-microseminoprotein (from RefSeq NM_020597.3) ENSMUST00000022464.1 ENSMUST00000022464.10 ENSMUST00000022464.11 ENSMUST00000022464.12 ENSMUST00000022464.13 ENSMUST00000022464.2 ENSMUST00000022464.3 ENSMUST00000022464.4 ENSMUST00000022464.5 ENSMUST00000022464.6 ENSMUST00000022464.7 ENSMUST00000022464.8 ENSMUST00000022464.9 MSMB_MOUSE NM_020597 O08540 Psp94 uc007syi.1 uc007syi.2 uc007syi.3 uc007syi.4 uc007syi.5 Homodimer; Interacts with PI16. Secreted. Note=Sperm surface. Belongs to the beta-microseminoprotein family. molecular_function cellular_component extracellular region biological_process uc007syi.1 uc007syi.2 uc007syi.3 uc007syi.4 uc007syi.5 
ENSMUST00000022470.15 Parg ENSMUST00000022470.15 poly (ADP-ribose) glycohydrolase, transcript variant 1 (from RefSeq NM_011960.3) ENSMUST00000022470.1 ENSMUST00000022470.10 ENSMUST00000022470.11 ENSMUST00000022470.12 ENSMUST00000022470.13 ENSMUST00000022470.14 ENSMUST00000022470.2 ENSMUST00000022470.3 ENSMUST00000022470.4 ENSMUST00000022470.5 ENSMUST00000022470.6 ENSMUST00000022470.7 ENSMUST00000022470.8 ENSMUST00000022470.9 G3X8U8 G3X8U8_MOUSE NM_011960 Parg uc007syr.1 uc007syr.2 uc007syr.3 uc007syr.4 Belongs to the poly(ADP-ribose) glycohydrolase family. poly(ADP-ribose) glycohydrolase activity nucleus nucleoplasm cytosol carbohydrate metabolic process hydrolase activity intracellular membrane-bounded organelle ATP generation from poly-ADP-D-ribose uc007syr.1 uc007syr.2 uc007syr.3 uc007syr.4 
ENSMUST00000022494.10 Ebpl ENSMUST00000022494.10 emopamil binding protein-like (from RefSeq NM_026598.3) EBPL_MOUSE ENSMUST00000022494.1 ENSMUST00000022494.2 ENSMUST00000022494.3 ENSMUST00000022494.4 ENSMUST00000022494.5 ENSMUST00000022494.6 ENSMUST00000022494.7 ENSMUST00000022494.8 ENSMUST00000022494.9 Ebrp Erp NM_026598 Q3TQR1 Q9CRQ2 Q9CY81 Q9D0P0 uc007ufv.1 uc007ufv.2 uc007ufv.3 uc007ufv.4 Does not possess sterol isomerase activity and does not bind sigma ligands. Homodimer. Endoplasmic reticulum membrane ; Multi-pass membrane protein Belongs to the EBP family. molecular_function endoplasmic reticulum endoplasmic reticulum membrane biological_process membrane integral component of membrane sterol metabolic process cholestenol delta-isomerase activity uc007ufv.1 uc007ufv.2 uc007ufv.3 uc007ufv.4 
ENSMUST00000022496.9 Kpna3 ENSMUST00000022496.9 karyopherin subunit alpha 3 (from RefSeq NM_008466.5) ENSMUST00000022496.1 ENSMUST00000022496.2 ENSMUST00000022496.3 ENSMUST00000022496.4 ENSMUST00000022496.5 ENSMUST00000022496.6 ENSMUST00000022496.7 ENSMUST00000022496.8 Kpna3 NM_008466 Q543M7 Q543M7_MOUSE uc007ufw.1 uc007ufw.2 uc007ufw.3 uc007ufw.4 Functions in nuclear protein import. Belongs to the importin alpha family. nucleus cytoplasm protein import into nucleus protein transport nuclear import signal receptor activity uc007ufw.1 uc007ufw.2 uc007ufw.3 uc007ufw.4 
ENSMUST00000022497.15 Spryd7 ENSMUST00000022497.15 SPRY domain containing 7, transcript variant 1 (from RefSeq NM_025697.4) Clld6 ENSMUST00000022497.1 ENSMUST00000022497.10 ENSMUST00000022497.11 ENSMUST00000022497.12 ENSMUST00000022497.13 ENSMUST00000022497.14 ENSMUST00000022497.2 ENSMUST00000022497.3 ENSMUST00000022497.4 ENSMUST00000022497.5 ENSMUST00000022497.6 ENSMUST00000022497.7 ENSMUST00000022497.8 ENSMUST00000022497.9 NM_025697 Q3TFQ1 Q8K1Y1 Q9CU44 Q9D368 Q9D3D1 SPRY7_MOUSE uc007ufx.1 uc007ufx.2 uc007ufx.3 uc007ufx.4 molecular_function cellular_component biological_process uc007ufx.1 uc007ufx.2 uc007ufx.3 uc007ufx.4 
ENSMUST00000022499.13 Rnaseh2b ENSMUST00000022499.13 ribonuclease H2, subunit B (from RefSeq NM_026001.3) Dleu8 ENSMUST00000022499.1 ENSMUST00000022499.10 ENSMUST00000022499.11 ENSMUST00000022499.12 ENSMUST00000022499.2 ENSMUST00000022499.3 ENSMUST00000022499.4 ENSMUST00000022499.5 ENSMUST00000022499.6 ENSMUST00000022499.7 ENSMUST00000022499.8 ENSMUST00000022499.9 NM_026001 Q80ZV0 Q9D014 RNH2B_MOUSE uc007ugl.1 uc007ugl.2 uc007ugl.3 Non catalytic subunit of RNase H2, an endonuclease that specifically degrades the RNA of RNA:DNA hybrids. Participates in DNA replication, possibly by mediating the removal of lagging-strand Okazaki fragment RNA primers during DNA replication. Mediates the excision of single ribonucleotides from DNA:RNA duplexes. The RNase H2 complex is a heterotrimer composed of the catalytic subunit RNASEH2A and the non-catalytic subunits RNASEH2B and RNASEH2C. Nucleus Belongs to the RNase H2 subunit B family. in utero embryonic development RNA-DNA hybrid ribonuclease activity nucleus nucleoplasm RNA catabolic process ribonucleotide metabolic process regulation of G2/M transition of mitotic cell cycle negative regulation of gene expression ribonuclease H2 complex positive regulation of fibroblast proliferation RNA phosphodiester bond hydrolysis, endonucleolytic regulation of DNA damage checkpoint uc007ugl.1 uc007ugl.2 uc007ugl.3 
ENSMUST00000022504.12 Mapk8 ENSMUST00000022504.12 mitogen-activated protein kinase 8, transcript variant 5 (from RefSeq NR_188805.1) ENSMUST00000022504.1 ENSMUST00000022504.10 ENSMUST00000022504.11 ENSMUST00000022504.2 ENSMUST00000022504.3 ENSMUST00000022504.4 ENSMUST00000022504.5 ENSMUST00000022504.6 ENSMUST00000022504.7 ENSMUST00000022504.8 ENSMUST00000022504.9 G3X8U9 G3X8U9_MOUSE Mapk8 NR_188805 uc007szr.1 uc007szr.2 uc007szr.3 uc007szr.4 uc007szr.5 uc007szr.6 Responds to activation by environmental stress and pro- inflammatory cytokines by phosphorylating a number of transcription factors, and thus regulates transcriptional activity. Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.24; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.24; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence= Cytoplasm Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MAP kinase subfamily. nucleotide binding protein kinase activity protein serine/threonine kinase activity JUN kinase activity MAP kinase activity ATP binding nucleus protein phosphorylation JNK cascade JUN phosphorylation response to UV positive regulation of gene expression kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation enzyme binding regulation of histone deacetylation positive regulation of cyclase activity negative regulation of protein binding regulation of protein localization cellular response to amino acid starvation cellular response to reactive oxygen species histone deacetylase regulator activity histone deacetylase binding negative regulation of apoptotic process positive regulation of protein metabolic process stress-activated MAPK cascade cellular response to lipopolysaccharide cellular response to mechanical stimulus cellular response to cadmium ion positive regulation of deacetylase activity regulation of DNA replication origin binding uc007szr.1 uc007szr.2 uc007szr.3 uc007szr.4 uc007szr.5 uc007szr.6 
ENSMUST00000022507.13 Pspc1 ENSMUST00000022507.13 paraspeckle protein 1, transcript variant 1 (from RefSeq NM_025682.4) ENSMUST00000022507.1 ENSMUST00000022507.10 ENSMUST00000022507.11 ENSMUST00000022507.12 ENSMUST00000022507.2 ENSMUST00000022507.3 ENSMUST00000022507.4 ENSMUST00000022507.5 ENSMUST00000022507.6 ENSMUST00000022507.7 ENSMUST00000022507.8 ENSMUST00000022507.9 NM_025682 PSPC1_MOUSE Psp1 Q3TUK2 Q8R326 Q9CYH1 Q9D0M8 uc007ucj.1 uc007ucj.2 uc007ucj.3 Together with NONO, required for the formation of nuclear paraspeckles. Regulates, cooperatively with NONO and SFPQ, androgen receptor-mediated gene transcription activity in Sertoli cell line. Binds to poly(A), poly(G) and poly(U) RNA homopolymers. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-BMAL1 heterodimer. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway. Forms heterodimers with NONO; this involves formation of a coiled coil domain by helices from both proteins (By similarity). Interaction with NONO is required for its targeting to paraspeckles and perinucleolar caps (By similarity). Found in a RNP complex with CAT2 transcribed nuclear RNA (CTN-RNA). Interacts with NONO and SFPQ. Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle proteins (SFPQ, NONO, PSPC1, RBM14, and MATR3) and NEAT1 RNA. Q8R326; O88609: Lmx1b; NbExp=3; IntAct=EBI-309927, EBI-13951208; Q8R326; Q8VIJ6: Sfpq; NbExp=2; IntAct=EBI-309927, EBI-6094576; Nucleus, nucleolus Note=In punctate subnuclear structures localized adjacent to nuclear splicing speckles, called paraspeckles. Colocalizes with NONO and SFPQ in paraspeckles and perinucleolar caps in an RNA-dependent manner. May cycle between paraspeckles and nucleolus. In telophase, when daughter nuclei form, localizes to perinucleolar caps. [Isoform 1]: Nucleus matrix. Cytoplasm. Nucleus speckle Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=PSP1-alpha; IsoId=Q8R326-1; Sequence=Displayed; Name=2; Synonyms=PSP1-beta; IsoId=Q8R326-2; Sequence=VSP_027276, VSP_027277; Isoform 1 is strongly expressed in testis (leptoten spermatocytes, round spematids and Sertoli cells) and moderately in cerebrum, cerebellum, lung, spleen and ovary (at protein level). Isoform 2 is strongly expressed in kidney and moderately in salivary gland (at protein level). Belongs to the PSPC family. transcription regulatory region sequence-specific DNA binding fibrillar center activation of innate immune response immune system process nucleic acid binding RNA binding protein binding nucleus nucleoplasm nucleolus cytoplasm nuclear matrix nuclear speck paraspeckles regulation of circadian rhythm innate immune response negative regulation of transcription, DNA-templated rhythmic process E-box binding uc007ucj.1 uc007ucj.2 uc007ucj.3 
ENSMUST00000022508.8 Ptpn20 ENSMUST00000022508.8 protein tyrosine phosphatase, non-receptor type 20 (from RefSeq NM_008978.2) A4QPF6 ENSMUST00000022508.1 ENSMUST00000022508.2 ENSMUST00000022508.3 ENSMUST00000022508.4 ENSMUST00000022508.5 ENSMUST00000022508.6 ENSMUST00000022508.7 NM_008978 O55082 PTN20_MOUSE Typ uc007szx.1 uc007szx.2 uc007szx.3 Tyrosine-protein phosphatase targeted to sites of actin polymerization in response of varied extracellular stimuli. Has tyrosine phosphatase activity towards various tyrosyl phosphorylated substrates. Reaction=H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate; Xref=Rhea:RHEA:10684, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620; EC=3.1.3.48; Evidence= Nucleus Cytoplasm Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Note=Colocalizes with the microtubule-organizing center and intracellular membrane compartments. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O55082-1; Sequence=Displayed; Name=2; IsoId=O55082-2; Sequence=VSP_027074, VSP_027075; Testis-specific. Specifically expressed in testicular germ cells that undergo meiosis (at protein level). Detected between 2 and 3 weeks after birth, in parallel with the onset of meiosis. Belongs to the protein-tyrosine phosphatase family. Non- receptor class subfamily. phosphoprotein phosphatase activity protein tyrosine phosphatase activity nucleus cytoplasm microtubule organizing center cytoskeleton microtubule protein dephosphorylation dephosphorylation hydrolase activity phosphatase activity peptidyl-tyrosine dephosphorylation uc007szx.1 uc007szx.2 uc007szx.3 
ENSMUST00000022511.10 Zmym2 ENSMUST00000022511.10 zinc finger, MYM-type 2, transcript variant 2 (from RefSeq NM_029498.4) B2RUS2 ENSMUST00000022511.1 ENSMUST00000022511.2 ENSMUST00000022511.3 ENSMUST00000022511.4 ENSMUST00000022511.5 ENSMUST00000022511.6 ENSMUST00000022511.7 ENSMUST00000022511.8 ENSMUST00000022511.9 NM_029498 Q3UUZ8 Q3UXK7 Q80XP0 Q9CU65 ZMYM2_MOUSE Zfp198 Znf198 uc007uct.1 uc007uct.2 uc007uct.3 uc007uct.4 This gene encodes a protein that contains nine MYM-type zinc finger motifs. Expression of this gene may mediate the inhibition of hematopoietic cell development during ontogeny, and the encoded protein may also play a role in transforming growth factor-beta signaling as a Smad binding protein. [provided by RefSeq, Feb 2011]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1660817.258645.1, SRR1660817.150611.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849375, SAMN00849381 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Involved in the negative regulation of transcription. Can form homodimers (By similarity). May be a component of a BHC histone deacetylase complex that contains HDAC1, HDAC2, HMG20B/BRAF35, KDM1A, RCOR1/CoREST, PHF21A/BHC80, ZMYM2, ZNF217, ZMYM3, GSE1 and GTF2I. Interacts with FOXP1 and FOXP2 (By similarity). Nucleus Low but widespread expression is detected in the developing kidney. RNA polymerase II transcription factor activity, sequence-specific DNA binding protein binding nucleus regulation of transcription from RNA polymerase II promoter zinc ion binding PML body regulation of cell morphogenesis ubiquitin conjugating enzyme binding metal ion binding uc007uct.1 uc007uct.2 uc007uct.3 uc007uct.4 
ENSMUST00000022517.9 Cryl1 ENSMUST00000022517.9 crystallin, lambda 1 (from RefSeq NM_030004.3) CRYL1_MOUSE Cry ENSMUST00000022517.1 ENSMUST00000022517.2 ENSMUST00000022517.3 ENSMUST00000022517.4 ENSMUST00000022517.5 ENSMUST00000022517.6 ENSMUST00000022517.7 ENSMUST00000022517.8 NM_030004 Q542R9 Q8R4W7 Q99KP3 uc007ucz.1 uc007ucz.2 uc007ucz.3 Has high L-gulonate 3-dehydrogenase activity. It also exhibits low dehydrogenase activity toward L-3-hydroxybutyrate (HBA) and L-threonate. Reaction=L-gulonate + NAD(+) = 3-dehydro-L-gulonate + H(+) + NADH; Xref=Rhea:RHEA:12889, ChEBI:CHEBI:13115, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57655, ChEBI:CHEBI:57945; EC=1.1.1.45; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:12890; Evidence=; Inhibited by malonate. Homodimer. Cytoplasm Widely expressed, with highest levels in liver. Undetectable in skeletal muscle. Belongs to the 3-hydroxyacyl-CoA dehydrogenase family. Sequence=AAM13398.1; Type=Frameshift; Evidence=; 3-hydroxyacyl-CoA dehydrogenase activity cytoplasm cytosol fatty acid metabolic process oxidoreductase activity protein homodimerization activity L-gulonate 3-dehydrogenase activity oxidation-reduction process NAD+ binding uc007ucz.1 uc007ucz.2 uc007ucz.3 
ENSMUST00000022519.15 Anxa8 ENSMUST00000022519.15 annexin A8, transcript variant 1 (from RefSeq NM_013473.4) ANXA8_MOUSE Anx8 ENSMUST00000022519.1 ENSMUST00000022519.10 ENSMUST00000022519.11 ENSMUST00000022519.12 ENSMUST00000022519.13 ENSMUST00000022519.14 ENSMUST00000022519.2 ENSMUST00000022519.3 ENSMUST00000022519.4 ENSMUST00000022519.5 ENSMUST00000022519.6 ENSMUST00000022519.7 ENSMUST00000022519.8 ENSMUST00000022519.9 NM_013473 O35640 Q8K2N9 uc007taj.1 uc007taj.2 uc007taj.3 uc007taj.4 uc007taj.5 This protein is an anticoagulant protein that acts as an indirect inhibitor of the thromboplastin-specific complex, which is involved in the blood coagulation cascade. A pair of annexin repeats may form one binding site for calcium and phospholipid. Belongs to the annexin family. calcium ion binding calcium-dependent phospholipid binding phosphatidylinositol-4,5-bisphosphate binding phosphatidylinositol-3,4,5-trisphosphate binding cytosol plasma membrane endosome organization blood coagulation hemostasis endosomal transport late endosome membrane phosphatidylinositol-3,4-bisphosphate binding metal ion binding actin filament binding negative regulation of serine-type endopeptidase activity negative regulation of phospholipase A2 activity uc007taj.1 uc007taj.2 uc007taj.3 uc007taj.4 uc007taj.5 
ENSMUST00000022522.15 Tdh ENSMUST00000022522.15 L-threonine dehydrogenase (from RefSeq NM_021480.5) ENSMUST00000022522.1 ENSMUST00000022522.10 ENSMUST00000022522.11 ENSMUST00000022522.12 ENSMUST00000022522.13 ENSMUST00000022522.14 ENSMUST00000022522.2 ENSMUST00000022522.3 ENSMUST00000022522.4 ENSMUST00000022522.5 ENSMUST00000022522.6 ENSMUST00000022522.7 ENSMUST00000022522.8 ENSMUST00000022522.9 NM_021480 Q6PD91 Q8K3F7 Q9JLU3 TDH_MOUSE Tdh uc007uhs.1 uc007uhs.2 Catalyzes the NAD(+)-dependent oxidation of L-threonine to 2- amino-3-ketobutyrate, mediating L-threonine catabolism. Reaction=L-threonine + NAD(+) = (2S)-2-amino-3-oxobutanoate + H(+) + NADH; Xref=Rhea:RHEA:13161, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57926, ChEBI:CHEBI:57945, ChEBI:CHEBI:78948; EC=1.1.1.103; Evidence=; Kinetic parameters: KM=72.4 mM for L-threonine ; KM=1.67 mM for NAD(+) ; Amino-acid degradation; L-threonine degradation via oxydo- reductase pathway; glycine from L-threonine: step 1/2. Homodimer. Mitochondrion Belongs to the NAD(P)-dependent epimerase/dehydratase family. catalytic activity mitochondrion threonine catabolic process L-threonine 3-dehydrogenase activity oxidoreductase activity L-threonine catabolic process to glycine identical protein binding coenzyme binding oxidation-reduction process uc007uhs.1 uc007uhs.2 
ENSMUST00000022528.6 Pinx1 ENSMUST00000022528.6 PIN2/TERF1 interacting, telomerase inhibitor 1 (from RefSeq NM_028228.4) ENSMUST00000022528.1 ENSMUST00000022528.2 ENSMUST00000022528.3 ENSMUST00000022528.4 ENSMUST00000022528.5 Lpts NM_028228 PINX1_MOUSE Q14BS4 Q3V450 Q8C6E5 Q91WZ9 Q9CZX5 Q9D0C2 uc007uhx.1 uc007uhx.2 uc007uhx.3 uc007uhx.4 Microtubule-binding protein essential for faithful chromosome segregation. Mediates TRF1 and TERT accumulation in nucleolus and enhances TRF1 binding to telomeres. Inhibits telomerase activity. May inhibit cell proliferation and act as tumor suppressor (By similarity). Interacts with MCRS1, TERT, TERF1, NCL/nucleolin, and the telomerase RNA. Nucleus Nucleus, nucleolus Chromosome, telomere Chromosome, centromere, kinetochore Note=Localizes in nucleoli, at telomere speckles and to the outer plate of kinetochores. Localization to the kinetochore is mediated by its central region and depends on NDC80 and CENPE (By similarity). The TID (telomerase inhibiting domain) domain is sufficient to bind TERT and inhibits its activity. The TBM domain mediates interaction with TERF1. Belongs to the PINX1 family. nuclear chromosome chromosome, centromeric region kinetochore condensed chromosome kinetochore chromosome, telomeric region nuclear chromosome, telomeric region nucleic acid binding nucleus chromosome nucleolus spindle telomere maintenance via telomerase mitotic metaphase plate congression telomerase inhibitor activity negative regulation of G2/M transition of mitotic cell cycle negative regulation of protein ubiquitination regulation of protein stability negative regulation of telomere maintenance via telomerase macromolecular complex binding negative regulation of telomerase activity telomerase RNA binding protein localization to chromosome, telomeric region protein localization to nucleolus positive regulation of telomeric DNA binding positive regulation of protein localization to nucleolus uc007uhx.1 uc007uhx.2 uc007uhx.3 uc007uhx.4 
ENSMUST00000022529.8 Tkt ENSMUST00000022529.8 transketolase (from RefSeq NM_009388.6) ENSMUST00000022529.1 ENSMUST00000022529.2 ENSMUST00000022529.3 ENSMUST00000022529.4 ENSMUST00000022529.5 ENSMUST00000022529.6 ENSMUST00000022529.7 NM_009388 P40142 Q3U7Y1 Q3UK62 Q545A1 Q9ESA0 TKT_MOUSE uc007svc.1 uc007svc.2 uc007svc.3 uc007svc.4 uc007svc.5 This gene encodes an enzyme that binds magnesium and thiamine pyrophosphate and catalyzes the transfer of sugar phosphates to an aldose acceptor. This enzyme is a key component of the pentose phosphate pathway during glycolysis. It is significantly expressed in the cornea and may be involved in the cellular response against oxidative stress. Haploinsufficiency of this gene leads to decreased growth and reduction of adipose tissue. [provided by RefSeq, Dec 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK030446.1, AK166763.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalyzes the transfer of a two-carbon ketol group from a ketose donor to an aldose acceptor, via a covalent intermediate with the cofactor thiamine pyrophosphate. Reaction=D-glyceraldehyde 3-phosphate + D-sedoheptulose 7-phosphate = aldehydo-D-ribose 5-phosphate + D-xylulose 5-phosphate; Xref=Rhea:RHEA:10508, ChEBI:CHEBI:57483, ChEBI:CHEBI:57737, ChEBI:CHEBI:58273, ChEBI:CHEBI:59776; EC=2.2.1.1; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Name=Co(2+); Xref=ChEBI:CHEBI:48828; Evidence=; Note=Binds 1 Mg(2+) ion per subunit. Can also utilize other divalent metal cations, such as Ca(2+), Mn(2+) and Co(2+). ; Name=thiamine diphosphate; Xref=ChEBI:CHEBI:58937; Evidence=; Note=Binds 1 thiamine pyrophosphate per subunit. ; Homodimer. Belongs to the transketolase family. magnesium ion binding catalytic activity transketolase activity nucleoplasm peroxisome endoplasmic reticulum membrane pentose-phosphate shunt pentose-phosphate shunt, non-oxidative branch nuclear body nuclear speck transferase activity carbohydrate binding thiamine pyrophosphate binding regulation of growth protein homodimerization activity myelin sheath intracellular membrane-bounded organelle glyceraldehyde-3-phosphate biosynthetic process ribose phosphate biosynthetic process metal ion binding monosaccharide binding cofactor binding uc007svc.1 uc007svc.2 uc007svc.3 uc007svc.4 uc007svc.5 
ENSMUST00000022531.14 Lats2 ENSMUST00000022531.14 large tumor suppressor 2, transcript variant A (from RefSeq NM_015771.2) ENSMUST00000022531.1 ENSMUST00000022531.10 ENSMUST00000022531.11 ENSMUST00000022531.12 ENSMUST00000022531.13 ENSMUST00000022531.2 ENSMUST00000022531.3 ENSMUST00000022531.4 ENSMUST00000022531.5 ENSMUST00000022531.6 ENSMUST00000022531.7 ENSMUST00000022531.8 ENSMUST00000022531.9 LATS2_MOUSE Lats2 NM_015771 Q7TSJ6 Q8CDJ4 Q9JMI3 uc007udk.1 uc007udk.2 Negative regulator of YAP1 in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. Phosphorylation of YAP1 by LATS2 inhibits its translocation into the nucleus to regulate cellular genes important for cell proliferation, cell death, and cell migration. Acts as a tumor suppressor which plays a critical role in centrosome duplication, maintenance of mitotic fidelity and genomic stability. Negatively regulates G1/S transition by down-regulating cyclin E/CDK2 kinase activity. Negative regulator of the androgen receptor. Phosphorylates SNAI1 in the nucleus leading to its nuclear retention and stabilization, which enhances its epithelial-mesenchymal transition and tumor cell invasion/migration activities. This tumor-promoting activity is independent of its effects upon YAP1 or WWTR1/TAZ (By similarity). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Interacts with and is phosphorylated by AURKA. Binds to AR (By similarity). Interacts with AJUBA during mitosis and this complex regulates organization of the spindle apparatus through recruitment of gamma-tubulin to the centrosome. Interacts (via PPxY motif) with YAP1 (via WW domains). Interacts with MOB1A and MOB1B (By similarity). Interacts with LIMD1, WTIP and AJUBA (By similarity). Interacts with SNAI1 (By similarity). Interacts with WWC1, WWC2 and WWC3 (via their WW domains) (By similarity). Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm Cytoplasm, cytoskeleton, spindle pole Nucleus Note=Colocalizes with AURKA at the centrosomes during interphase, early prophase and cytokinesis (By similarity). Migrates to the spindle poles during mitosis, and to the midbody during cytokinesis. Translocates to the nucleus upon mitotic stress by nocodazole treatment (By similarity). Expressed at high levels in ovary and testis and at lower levels in all other tissues examined. Autophosphorylated and phosphorylated during M-phase and the G1/S- phase of the cell cycle. Phosphorylated and activated by STK3/MST2. Phosphorylation by NUAK2 may regulate its activity in phosphorylation and inactivation YAP1. Belongs to the protein kinase superfamily. AGC Ser/Thr protein kinase family. Sequence=BAC26704.1; Type=Frameshift; Evidence=; G1/S transition of mitotic cell cycle nucleotide binding spindle pole inner cell mass cell fate commitment inner cell mass cellular morphogenesis protein kinase activity protein serine/threonine kinase activity ATP binding nucleus cytoplasm microtubule organizing center cytosol cytoskeleton protein phosphorylation cell cycle hormone-mediated signaling pathway kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation keratinocyte differentiation cellular protein localization hippo signaling intracellular signal transduction positive regulation of apoptotic process negative regulation of cyclin-dependent protein serine/threonine kinase activity regulation of organ growth metal ion binding cell division negative regulation of canonical Wnt signaling pathway uc007udk.1 uc007udk.2 
ENSMUST00000022532.6 4930578I06Rik ENSMUST00000022532.6 RIKEN cDNA 4930578I06 gene (from RefSeq NM_026359.4) CH074_MOUSE ENSMUST00000022532.1 ENSMUST00000022532.2 ENSMUST00000022532.3 ENSMUST00000022532.4 ENSMUST00000022532.5 NM_026359 Q80ZQ3 Q9CVZ7 uc288vdv.1 uc288vdv.2 Sequence=BAB24234.2; Type=Frameshift; Evidence=; Sequence=BAC25478.1; Type=Frameshift; Evidence=; molecular_function cellular_component biological_process uc288vdv.1 uc288vdv.2 
ENSMUST00000022535.9 Dcp1a ENSMUST00000022535.9 decapping mRNA 1A, transcript variant 1 (from RefSeq NM_133761.4) DCP1A_MOUSE ENSMUST00000022535.1 ENSMUST00000022535.2 ENSMUST00000022535.3 ENSMUST00000022535.4 ENSMUST00000022535.5 ENSMUST00000022535.6 ENSMUST00000022535.7 ENSMUST00000022535.8 Mitc1 NM_133761 Q6NZE3 Q91YD3 Smif uc007sva.1 uc007sva.2 uc007sva.3 Necessary for the degradation of mRNAs, both in normal mRNA turnover and in nonsense-mediated mRNA decay. Removes the 7-methyl guanine cap structure from mRNA molecules, yielding a 5'-phosphorylated mRNA fragment and 7m-GDP. Contributes to the transactivation of target genes after stimulation by TGFB1 (By similarity). Essential for embryonic development (PubMed:11836524). Reaction=a 5'-end (N(7)-methyl 5'-triphosphoguanosine)-ribonucleoside in mRNA + H2O = a 5'-end phospho-ribonucleoside in mRNA + 2 H(+) + N(7)-methyl-GDP; Xref=Rhea:RHEA:67484, Rhea:RHEA-COMP:15692, Rhea:RHEA-COMP:17167, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:63714, ChEBI:CHEBI:138282, ChEBI:CHEBI:156461; EC=3.6.1.62; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:67485; Evidence=; Forms a complex with EDC3, DCP2, DDX6 and EDC4/HEDLS, within this complex directly interacts with EDC3. Part of a cytoplasmic complex containing proteins involved in mRNA decay, including XRN1 and LSM1. Interacts with DCP1B. Interacts with DCP2. Interacts with DDX17 in an RNA-independent manner. Interacts with PNRC2. Interacts with SMAD4. Interacts with UPF1. Interacts with ZC3HAV1. Interacts with ZFP36L1. Interacts with NBDY. Interacts with DHX34; the interaction is RNA-independent (By similarity). Cytoplasm, P-body cleus Note=Predominantly cytoplasmic, in processing bodies (PB). Nuclear, after TGFB1 treatment. Translocation to the nucleus depends on interaction with SMAD4 (By similarity). Colocalizes with NANOS3 in the processing bodies (PubMed:19861488). Ubiquitous, with highest expression in the spleen and testis (at protein level). Expression detectable at 9.5 dpc and progressively increases from 11.5 dpc onwards (at protein level). Embryonic lethality around embryonic day 10.5 concomitant with massive growth retardation and cardiac developmental defects seen. Belongs to the DCP1 family. It is uncertain whether Met-1 or Met-21 is the initiator. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay deadenylation-dependent decapping of nuclear-transcribed mRNA P-body nucleus transcription factor complex cytoplasm transforming growth factor beta receptor signaling pathway enzyme activator activity transcription factor binding hydrolase activity kinesin binding deadenylation-independent decapping of nuclear-transcribed mRNA cytoplasmic ribonucleoprotein granule identical protein binding positive regulation of catalytic activity positive regulation of transcription, DNA-templated protein localization to cytoplasmic stress granule uc007sva.1 uc007sva.2 uc007sva.3 
ENSMUST00000022536.3 Ska3 ENSMUST00000022536.3 spindle and kinetochore associated complex subunit 3, transcript variant 5 (from RefSeq NR_184859.1) ENSMUST00000022536.1 ENSMUST00000022536.2 NR_184859 Q149T5 Q149T6 Q8C263 Rama1 SKA3_MOUSE uc007udp.1 uc007udp.2 Component of the SKA1 complex, a microtubule-binding subcomplex of the outer kinetochore that is essential for proper chromosome segregation. The SKA1 complex is a direct component of the kinetochore-microtubule interface and directly associates with microtubules as oligomeric assemblies. The complex facilitates the processive movement of microspheres along a microtubule in a depolymerization-coupled manner. In the complex, it mediates the microtubule-stimulated oligomerization. Affinity for microtubules is synergistically enhanced in the presence of the ndc-80 complex and may allow the ndc-80 complex to track depolymerizing microtubules. Component of the SKA1 complex, composed of SKA1, SKA2 and SKA3. The core SKA1 complex is composed of 2 SKA1-SKA2 heterodimers, each heterodimer interacting with a molecule of the SKA3 homodimer. The core SKA1 complex associates with microtubules and forms oligomeric assemblies. Interacts with SKA1; the interaction is direct. Cytoplasm, cytoskeleton, spindle Chromosome, centromere, kinetochore Note=Localizes to the outer kinetochore and spindle microtubules during mitosis in a NDC80 complex-dependent manner. Belongs to the SKA3 family. mitotic cell cycle chromosome, centromeric region kinetochore condensed chromosome kinetochore condensed chromosome outer kinetochore molecular_function chromosome cytoplasm spindle cytoskeleton microtubule spindle microtubule cell cycle chromosome segregation regulation of microtubule polymerization or depolymerization cell division uc007udp.1 uc007udp.2 
ENSMUST00000022537.6 Prss52 ENSMUST00000022537.6 serine protease 52 (from RefSeq NM_028525.2) A8C1Y0 ENSMUST00000022537.1 ENSMUST00000022537.2 ENSMUST00000022537.3 ENSMUST00000022537.4 ENSMUST00000022537.5 NM_028525 PRS52_MOUSE Q80Y38 Q9D9M0 Tesp3 uc007uie.1 uc007uie.2 uc007uie.3 Probable serine protease. Membrane ; Single-pass type I membrane protein Belongs to the peptidase S1 family. Sequence=BAB24725.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; serine-type endopeptidase activity proteolysis peptidase activity serine-type peptidase activity membrane integral component of membrane hydrolase activity uc007uie.1 uc007uie.2 uc007uie.3 
ENSMUST00000022538.5 Mrpl57 ENSMUST00000022538.5 mitochondrial ribosomal protein L57 (from RefSeq NM_026401.2) ENSMUST00000022538.1 ENSMUST00000022538.2 ENSMUST00000022538.3 ENSMUST00000022538.4 Mrp63 NM_026401 Q9CQF8 RT63_MOUSE uc007udq.1 uc007udq.2 uc007udq.3 Mitochondrion Identified only in the intact 55S subunit. It is unknown whether it belongs to the 28S or to the 39S subunit. May localize at the subunit interface and dissociate from the 55S mitoribosome during subunit separation. Belongs to the mitochondrion-specific ribosomal protein mL63 family. structural constituent of ribosome mitochondrion mitochondrial ribosome mitochondrial large ribosomal subunit ribosome translation mitochondrial translation uc007udq.1 uc007udq.2 uc007udq.3 
ENSMUST00000022543.10 Micu2 ENSMUST00000022543.10 mitochondrial calcium uptake 2, transcript variant 4 (from RefSeq NR_184778.1) ENSMUST00000022543.1 ENSMUST00000022543.2 ENSMUST00000022543.3 ENSMUST00000022543.4 ENSMUST00000022543.5 ENSMUST00000022543.6 ENSMUST00000022543.7 ENSMUST00000022543.8 ENSMUST00000022543.9 Efha1 MICU2_MOUSE NR_184778 Q3TJU4 Q8CD10 Q8K0K2 Q9CUR8 uc007udv.1 uc007udv.2 uc007udv.3 Key regulator of mitochondrial calcium uniporter (MCU) required to limit calcium uptake by MCU when cytoplasmic calcium is low (PubMed:23409044, PubMed:24560927). MICU1 and MICU2 form a disulfide- linked heterodimer that stimulate and inhibit MCU activity, depending on the concentration of calcium (PubMed:24560927). MICU2 acts as a gatekeeper of MCU that senses calcium level via its EF-hand domains: prevents channel opening at resting Ca(2+), avoiding energy dissipation and cell-death triggering (PubMed:24560927). Heterodimer; disulfide-linked; heterodimerizes with MICU1 (PubMed:23409044, PubMed:24560927). Interacts with MCU (PubMed:23409044). The heterodimer formed with MICU1 associates with MCU at low calcium concentration and dissociates from MCU at high calcium level (By similarity). Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1. Mitochondrion intermembrane space Predominantly expressed in stomach, intestine, skeletal muscle, kidney, heart, testis, prostate and uterus. The EF-hand domains have high affinity for calcium and act as sensors of mitochondrial matrix calcium levels (PubMed:24560927). It is unclear which EF-hand binds calcium as none of the 4 EF-hand domains seem to contain a canonical calcium-binding site. Belongs to the MICU1 family. MICU2 subfamily. calcium ion binding protein binding mitochondrion mitochondrial inner membrane mitochondrial intermembrane space mitochondrial calcium ion transport calcium channel complex mitochondrial calcium uptake protein heterodimerization activity mitochondrial calcium ion homeostasis positive regulation of mitochondrial calcium ion concentration negative regulation of mitochondrial calcium ion concentration uniplex complex uc007udv.1 uc007udv.2 uc007udv.3 
ENSMUST00000022545.14 Fgf9 ENSMUST00000022545.14 fibroblast growth factor 9, transcript variant 1 (from RefSeq NM_013518.5) ENSMUST00000022545.1 ENSMUST00000022545.10 ENSMUST00000022545.11 ENSMUST00000022545.12 ENSMUST00000022545.13 ENSMUST00000022545.2 ENSMUST00000022545.3 ENSMUST00000022545.4 ENSMUST00000022545.5 ENSMUST00000022545.6 ENSMUST00000022545.7 ENSMUST00000022545.8 ENSMUST00000022545.9 FGF9_MOUSE Fgf-9 NM_013518 P54130 Q499I9 uc007udx.1 uc007udx.2 uc007udx.3 uc007udx.4 Plays an important role in the regulation of embryonic development, cell proliferation, cell differentiation and cell migration. May have a role in glial cell growth and differentiation during development, gliosis during repair and regeneration of brain tissue after damage, differentiation and survival of neuronal cells, and growth stimulation of glial tumors. Monomer. Homodimer. Interacts with FGFR1, FGFR2, FGFR3 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors (By similarity). Secreted. Belongs to the heparin-binding growth factors family. negative regulation of transcription from RNA polymerase II promoter angiogenesis osteoblast differentiation eye development positive regulation of mesenchymal cell proliferation chondrocyte differentiation cardiac left ventricle morphogenesis cardiac ventricle development fibroblast growth factor receptor binding extracellular region basement membrane extracellular space cytoplasm protein import into nucleus cell-cell signaling multicellular organism development growth factor activity heparin binding positive regulation of cell proliferation fibroblast growth factor receptor signaling pathway male gonad development positive regulation of gene expression cell differentiation negative regulation of Wnt signaling pathway male sex determination lung development embryonic limb morphogenesis positive regulation of vascular endothelial growth factor receptor signaling pathway positive regulation of activin receptor signaling pathway inner ear morphogenesis positive regulation of MAPK cascade positive regulation of smoothened signaling pathway positive regulation of transcription, DNA-templated regulation of timing of cell differentiation embryonic digestive tract development embryonic skeletal system development positive regulation of epithelial cell proliferation positive regulation of cell division positive regulation of cardiac muscle cell proliferation lung-associated mesenchyme development vasculogenesis involved in coronary vascular morphogenesis positive regulation of canonical Wnt signaling pathway positive regulation of vascular smooth muscle cell proliferation positive regulation of vascular associated smooth muscle cell migration uc007udx.1 uc007udx.2 uc007udx.3 uc007udx.4 
ENSMUST00000022548.10 1700129C05Rik ENSMUST00000022548.10 RIKEN cDNA 1700129C05 gene, transcript variant 1 (from RefSeq NM_026461.2) 1700129C05Rik ENSMUST00000022548.1 ENSMUST00000022548.2 ENSMUST00000022548.3 ENSMUST00000022548.4 ENSMUST00000022548.5 ENSMUST00000022548.6 ENSMUST00000022548.7 ENSMUST00000022548.8 ENSMUST00000022548.9 NM_026461 Q9CQ77 Q9CQ77_MOUSE uc007udz.1 uc007udz.2 uc007udz.3 molecular_function cellular_component biological_process uc007udz.1 uc007udz.2 uc007udz.3 
ENSMUST00000022550.8 Extl3 ENSMUST00000022550.8 exostosin-like glycosyltransferase 3, transcript variant 1 (from RefSeq NM_018788.4) ENSMUST00000022550.1 ENSMUST00000022550.2 ENSMUST00000022550.3 ENSMUST00000022550.4 ENSMUST00000022550.5 ENSMUST00000022550.6 ENSMUST00000022550.7 Extl3 NM_018788 Q6P1H4 Q6P1H4_MOUSE uc007uix.1 uc007uix.2 uc007uix.3 uc007uix.4 Endoplasmic reticulum membrane ; Single-pass type II membrane protein Belongs to the glycosyltransferase 47 family. endoplasmic reticulum Golgi apparatus protein glycosylation heparan sulfate proteoglycan biosynthetic process membrane integral component of membrane transferase activity, transferring glycosyl groups positive regulation of cell growth uc007uix.1 uc007uix.2 uc007uix.3 uc007uix.4 
ENSMUST00000022553.6 Cab39l ENSMUST00000022553.6 calcium binding protein 39-like, transcript variant 3 (from RefSeq NM_026908.4) CB39L_MOUSE ENSMUST00000022553.1 ENSMUST00000022553.2 ENSMUST00000022553.3 ENSMUST00000022553.4 ENSMUST00000022553.5 NM_026908 Q8BG52 Q91WB8 Q91YL0 Q9DB16 uc007uem.1 uc007uem.2 Component of a complex that binds and activates STK11/LKB1. In the complex, required to stabilize the interaction between CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta) and STK11/LKB1 (By similarity). Component of a trimeric complex composed of STK11/LKB1, STRAD (STRADA or STRADB) and CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta): the complex tethers STK11/LKB1 in the cytoplasm and stimulates its catalytic activity. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9DB16-1; Sequence=Displayed; Name=2; IsoId=Q9DB16-2; Sequence=VSP_007417, VSP_007418; Belongs to the Mo25 family. Sequence=AAH16128.1; Type=Erroneous initiation; Evidence=; signal transduction by protein phosphorylation protein serine/threonine kinase activity uc007uem.1 uc007uem.2 
ENSMUST00000022561.9 Amer2 ENSMUST00000022561.9 APC membrane recruitment 2, transcript variant 1 (from RefSeq NM_028113.4) AMER2_MOUSE ENSMUST00000022561.1 ENSMUST00000022561.2 ENSMUST00000022561.3 ENSMUST00000022561.4 ENSMUST00000022561.5 ENSMUST00000022561.6 ENSMUST00000022561.7 ENSMUST00000022561.8 Fam123a NM_028113 Q7TNC5 Q8CCJ4 Q8K0U9 Q9D0Q2 uc011zmz.1 uc011zmz.2 uc011zmz.3 uc011zmz.4 Negative regulator of the canonical Wnt signaling pathway involved in neuroectodermal patterning. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex (By similarity). Interacts with APC. Cell membrane ; Peripheral membrane protein Note=Translocates to the cell membrane following binding to PtdIns(4,5)P2. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8CCJ4-1; Sequence=Displayed; Name=2; IsoId=Q8CCJ4-2; Sequence=VSP_024090; Belongs to the Amer family. Sequence=AAH30356.1; Type=Erroneous initiation; Evidence=; Sequence=AAH56350.1; Type=Erroneous initiation; Evidence=; Sequence=BAB27452.1; Type=Erroneous initiation; Evidence=; Sequence=BAC27972.1; Type=Erroneous initiation; Evidence=; Sequence=BAE23912.1; Type=Erroneous initiation; Evidence=; protein binding phosphatidylinositol-4,5-bisphosphate binding plasma membrane ectoderm development beta-catenin binding lipid binding membrane Wnt signaling pathway regulation of canonical Wnt signaling pathway negative regulation of canonical Wnt signaling pathway uc011zmz.1 uc011zmz.2 uc011zmz.3 uc011zmz.4 
ENSMUST00000022563.9 Mtmr6 ENSMUST00000022563.9 myotubularin related protein 6, transcript variant 1 (from RefSeq NM_144843.5) ENSMUST00000022563.1 ENSMUST00000022563.2 ENSMUST00000022563.3 ENSMUST00000022563.4 ENSMUST00000022563.5 ENSMUST00000022563.6 ENSMUST00000022563.7 ENSMUST00000022563.8 L8AZD2 MTMR6_MOUSE Mtmr6 NM_144843 Q8VE11 uc007ufa.1 uc007ufa.2 uc007ufa.3 uc007ufa.4 Phosphatase that acts on lipids with a phosphoinositol headgroup. Dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 3,5-bisphosphate. Binds with high affinity to phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) but also to phosphatidylinositol 3-phosphate (PtdIns(3)P), phosphatidylinositol 4-phosphate (PtdIns(4)P), and phosphatidylinositol 5-phosphate (PtdIns(5)P), phosphatidic acid and phosphatidylserine (By similarity). Negatively regulates ER-Golgi protein transport (By similarity). Probably in association with MTMR9, plays a role in the late stages of macropinocytosis by dephosphorylating phosphatidylinositol 3-phosphate in membrane ruffles (PubMed:24591580). Acts as a negative regulator of KCNN4/KCa3.1 channel activity in CD4(+) T-cells possibly by decreasing intracellular levels of phosphatidylinositol 3-phosphate. Negatively regulates proliferation of reactivated CD4(+) T-cells. In complex with MTMR9, negatively regulates DNA damage-induced apoptosis. The formation of the MTMR6-MTMR9 complex stabilizes both MTMR6 and MTMR9 protein levels (By similarity). Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5- bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo- inositol-5-phosphate) + phosphate; Xref=Rhea:RHEA:39019, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57795, ChEBI:CHEBI:57923; EC=3.1.3.95; Evidence=; Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3- phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo- inositol) + phosphate; Xref=Rhea:RHEA:12316, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57880, ChEBI:CHEBI:58088; EC=3.1.3.64; Evidence=; Reaction=1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5- bisphosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo- inositol-5-phosphate) + phosphate; Xref=Rhea:RHEA:45632, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:78911, ChEBI:CHEBI:85342; Evidence=; Reaction=1,2-dioctanoyl-sn-glycero-3-phospho-(1-D-myo-inositol-3- phosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo- inositol) + phosphate; Xref=Rhea:RHEA:42328, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:65221, ChEBI:CHEBI:78934; Evidence=; Allosterically activated by phosphatidylserine and/or phosphatidylinositol 4-phosphate (PtdIns(4)P), and phosphatidylinositol 5-phosphate (PtdIns(5)P) (By similarity). Interaction with MTMR9 increases catalytic activity towards phosphatidylinositol 3,5-bisphosphate (By similarity). Homodimer (By similarity). Heterodimer (via C-terminus) with MTMR9 (via C-terminus) (PubMed:23188820, PubMed:12890864). Interacts with ALKBH4 (By similarity). Interacts with KCNN4 (By similarity). Interacts (via GRAM domain) with RAB1B (in GDP-bound form); the interaction regulates MTMR6 recruitment to the endoplasmic reticulum- Golgi intermediate compartment (PubMed:23188820). Cytoplasm Endoplasmic reticulum-Golgi intermediate compartment Cell projection, ruffle membrane ; Peripheral membrane protein ; Cytoplasmic side Endoplasmic reticulum Note=Localizes to ruffles during EGF- induced macropinocytosis (PubMed:24591580). Colocalizes with MTMR9 to the perinuclear region (By similarity). Partially localizes to the endoplasmic reticulum (By similarity). Co-localizes with RAB1B to the endoplasmic reticulum-Golgi intermediate compartment and to the peri- Golgi region (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8VE11-1; Sequence=Displayed; Name=2; IsoId=Q8VE11-2; Sequence=VSP_060069; Isoform 1: Ubiquitously expressed including in heart, brain, spleen, lung, liver, muscle, kidney and testis (at protein level) (PubMed:23188820). Isoform 2: Expressed in testis (at protein level) (PubMed:23188820). The GRAM domain is required for cell membrane localization. The C-terminus domain (aa 502-617) mediates interaction with MTMR9. Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily. phosphatidylinositol-3-phosphatase activity protein tyrosine phosphatase activity nuclear envelope cytoplasm endoplasmic reticulum endoplasmic reticulum-Golgi intermediate compartment plasma membrane lipid metabolic process endocytosis calcium-activated potassium channel activity membrane dephosphorylation hydrolase activity ruffle membrane peptidyl-tyrosine dephosphorylation cell projection phosphatidylinositol dephosphorylation phosphatidylinositol phosphate phosphatase activity potassium ion transmembrane transport uc007ufa.1 uc007ufa.2 uc007ufa.3 uc007ufa.4 
ENSMUST00000022567.9 Cacna2d3 ENSMUST00000022567.9 calcium channel, voltage-dependent, alpha2/delta subunit 3 (from RefSeq NM_009785.1) CA2D3_MOUSE ENSMUST00000022567.1 ENSMUST00000022567.2 ENSMUST00000022567.3 ENSMUST00000022567.4 ENSMUST00000022567.5 ENSMUST00000022567.6 ENSMUST00000022567.7 ENSMUST00000022567.8 NM_009785 Q9Z1L5 uc288ruf.1 uc288ruf.2 The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel. Acts as a regulatory subunit for P/Q- type calcium channel (CACNA1A), N-type (CACNA1B), L-type (CACNA1C OR CACNA1D) but not T-type (CACNA1G). Dimer formed of alpha-2-2 and delta-2 chains; disulfide- linked. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1 (CACNA1), alpha-2 (CACNA2D), beta (CACNB) and delta (CACNA2D) subunits in a 1:1:1:1 ratio (By similarity). Membrane ; Single-pass type I membrane protein Brain-specific. Predominantly expressed in the caudate putamen, entorhinal complex, hippocampus and cortex. The MIDAS-like motif in the VWFA domain binds divalent metal cations and is required to promote trafficking of the alpha-1 (CACNA1) subunit to the plasma membrane by an integrin-like switch. N-glycosylated. May be proteolytically processed into subunits alpha-2-3 and delta-3 that are disulfide-linked. It is however unclear whether such cleavage really takes place in vivo and has a functional role. In contrast to CACNA2D1 and CACNA2D2, it does not bind gabapentin, an antiepileptic drug. Belongs to the calcium channel subunit alpha-2/delta family. voltage-gated ion channel activity voltage-gated calcium channel activity calcium channel activity voltage-gated calcium channel complex ion transport calcium ion transport membrane integral component of membrane regulation of ion transmembrane transport metal ion binding calcium ion transmembrane transport uc288ruf.1 uc288ruf.2 
ENSMUST00000022573.17 Esd ENSMUST00000022573.17 esterase D/formylglutathione hydrolase, transcript variant 2 (from RefSeq NM_016903.5) ENSMUST00000022573.1 ENSMUST00000022573.10 ENSMUST00000022573.11 ENSMUST00000022573.12 ENSMUST00000022573.13 ENSMUST00000022573.14 ENSMUST00000022573.15 ENSMUST00000022573.16 ENSMUST00000022573.2 ENSMUST00000022573.3 ENSMUST00000022573.4 ENSMUST00000022573.5 ENSMUST00000022573.6 ENSMUST00000022573.7 ENSMUST00000022573.8 ENSMUST00000022573.9 ESTD_MOUSE Es10 NM_016903 Q80ZX4 Q9CWI4 Q9R0P3 Sid478 uc007uqd.1 uc007uqd.2 uc007uqd.3 Serine hydrolase involved in the detoxification of formaldehyde. Reaction=H2O + S-formylglutathione = formate + glutathione + H(+); Xref=Rhea:RHEA:14961, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15740, ChEBI:CHEBI:57688, ChEBI:CHEBI:57925; EC=3.1.2.12; Homodimer. Cytoplasm. Cytoplasmic vesicle Belongs to the esterase D family. Sequence=BAB27115.1; Type=Erroneous initiation; Evidence=; cytoplasm cytosol hydrolase activity hydrolase activity, acting on ester bonds S-formylglutathione hydrolase activity cytoplasmic vesicle identical protein binding formaldehyde catabolic process carboxylic ester hydrolase activity uc007uqd.1 uc007uqd.2 uc007uqd.3 
ENSMUST00000022574.5 Lrrc63 ENSMUST00000022574.5 leucine rich repeat containing 63, transcript variant 1 (from RefSeq NM_027581.2) A6H694 ENSMUST00000022574.1 ENSMUST00000022574.2 ENSMUST00000022574.3 ENSMUST00000022574.4 G3X8V0 LRC63_MOUSE Lrrc63 NM_027581 Q9D5X5 uc007uql.1 uc007uql.2 uc007uql.3 uc007uql.4 Sequence=BAB29582.1; Type=Erroneous initiation; Evidence=; molecular_function cellular_component biological_process uc007uql.1 uc007uql.2 uc007uql.3 uc007uql.4 
ENSMUST00000022576.10 Cpb2 ENSMUST00000022576.10 carboxypeptidase B2 (from RefSeq NM_019775.3) CBPB2_MOUSE ENSMUST00000022576.1 ENSMUST00000022576.2 ENSMUST00000022576.3 ENSMUST00000022576.4 ENSMUST00000022576.5 ENSMUST00000022576.6 ENSMUST00000022576.7 ENSMUST00000022576.8 ENSMUST00000022576.9 NM_019775 Q5EBI3 Q9JHH6 Q9QZF0 Tafi uc007uqq.1 uc007uqq.2 uc007uqq.3 uc007uqq.4 This gene encodes carboxypeptidase B, a zinc-dependent metalloprotease that cleaves peptide bonds at the C-terminus of protein substrates. The encoded preproprotein undergoes proteolytic activation to generate a mature, functional enzyme, and secreted into plasma. [provided by RefSeq, Jan 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF164524.1, BC089577.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849385, SAMN00849386 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Cleaves C-terminal arginine or lysine residues from biologically active peptides such as kinins or anaphylatoxins in the circulation thereby regulating their activities. Down-regulates fibrinolysis by removing C-terminal lysine residues from fibrin that has already been partially degraded by plasmin. Reaction=Release of C-terminal Arg and Lys from a polypeptide.; EC=3.4.17.20; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; TAFI/CPB2 is unique among carboxypeptidases in that it spontaneously inactivates with a short half-life, a property that is crucial for its role in controlling blood clot lysis. The zymogen is stabilized by interactions with the activation peptide. Release of the activation peptide increases a dynamic flap mobility and in time this leads to conformational changes that disrupt the catalytic site and expose a cryptic thrombin-cleavage site present at Arg-323 (By similarity). Secreted Plasma; synthesized in the liver. Belongs to the peptidase M14 family. positive regulation of extracellular matrix constituent secretion carboxypeptidase activity metallocarboxypeptidase activity extracellular region extracellular space cell proteolysis blood coagulation hemostasis peptidase activity metallopeptidase activity zinc ion binding response to heat negative regulation of plasminogen activation hydrolase activity response to drug fibrinolysis metal ion binding negative regulation of fibrinolysis cellular response to glucose stimulus liver regeneration negative regulation of hepatocyte proliferation uc007uqq.1 uc007uqq.2 uc007uqq.3 uc007uqq.4 
ENSMUST00000022577.6 Zc3h13 ENSMUST00000022577.6 zinc finger CCCH type containing 13, transcript variant 2 (from RefSeq NM_026083.2) B9EHN9 E9Q784 ENSMUST00000022577.1 ENSMUST00000022577.2 ENSMUST00000022577.3 ENSMUST00000022577.4 ENSMUST00000022577.5 NM_026083 ZC3HD_MOUSE Zc3h13 uc007uqs.1 uc007uqs.2 Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:29535189, PubMed:29547716). Acts as a key regulator of m6A methylation by promoting m6A methylation of mRNAs at the 3'-UTR (PubMed:29547716). Controls embryonic stem cells (ESCs) pluripotency via its role in m6A methylation (PubMed:29547716). In the WMM complex, anchors component of the MACOM subcomplex in the nucleus (PubMed:29547716). Also required for bridging WTAP to the RNA-binding component RBM15 (RBM15 or RBM15B) (PubMed:29535189). Component of the WMM complex, a N6-methyltransferase complex composed of a catalytic subcomplex, named MAC, and of an associated subcomplex, named MACOM (PubMed:29535189, PubMed:29547716). The MAC subcomplex is composed of METTL3 and METTL14 (PubMed:29535189, PubMed:29547716). The MACOM subcomplex is composed of WTAP, ZC3H13, CBLL1/HAKAI, VIRMA, and, in some cases of RBM15 (RBM15 or RBM15B) (PubMed:29535189, PubMed:29547716). Also a component of a MACOM-like complex, named WTAP complex, composed of WTAP, ZC3H13, CBLL1/HAKAI, VIRMA, RBM15, BCLAF1 and THRAP3 (By similarity). Nucleus speckle Nucleus, nucleoplasm Belongs to the ZC3H13 family. nucleus nucleoplasm mRNA processing multicellular organism development RNA splicing nuclear speck MIS complex metal ion binding mRNA methylation regulation of stem cell population maintenance uc007uqs.1 uc007uqs.2 
ENSMUST00000022580.8 Slc25a30 ENSMUST00000022580.8 solute carrier family 25, member 30 (from RefSeq NM_026232.3) ENSMUST00000022580.1 ENSMUST00000022580.2 ENSMUST00000022580.3 ENSMUST00000022580.4 ENSMUST00000022580.5 ENSMUST00000022580.6 ENSMUST00000022580.7 KMCP1_MOUSE Kmcp1 NM_026232 Q3UAD0 Q9CR58 Slc25a30 uc007uqx.1 uc007uqx.2 uc007uqx.3 Antiporter that transports inorganic anions (sulfate, sulfite, thiosulfate and phosphate) and, to a lesser extent, a variety of dicarboxylates (e.g. malonate, malate and citramalate) and, even more so, aspartate. The sulfate/sulfate exchange is much higher than the phosphate/phosphate and malate/malate exchanges. The transport affinities is higher for sulfate and thiosulfate than for any other substrate. May catalyze the export of sulfite and thiosulfate (the hydrogen sulfide degradation products) from the mitochondria, thereby modulating the level of the hydrogen sulfide. Also may mediate a very low unidirectional transport of sulfate, phosphate and (S)-malate. Reaction=sulfate(out) + sulfite(in) = sulfate(in) + sulfite(out); Xref=Rhea:RHEA:73207, ChEBI:CHEBI:16189, ChEBI:CHEBI:17359; Evidence=; Reaction=sulfate(out) + thiosulfate(in) = sulfate(in) + thiosulfate(out); Xref=Rhea:RHEA:73215, ChEBI:CHEBI:16189, ChEBI:CHEBI:33542; Evidence=; Reaction=phosphate(in) + sulfate(out) = phosphate(out) + sulfate(in); Xref=Rhea:RHEA:71631, ChEBI:CHEBI:16189, ChEBI:CHEBI:43474; Evidence=; Reaction=oxalate(in) + sulfate(out) = oxalate(out) + sulfate(in); Xref=Rhea:RHEA:72275, ChEBI:CHEBI:16189, ChEBI:CHEBI:30623; Evidence=; Reaction=malonate(in) + sulfate(out) = malonate(out) + sulfate(in); Xref=Rhea:RHEA:73195, ChEBI:CHEBI:15792, ChEBI:CHEBI:16189; Evidence=; Reaction=maleate(in) + sulfate(out) = maleate(out) + sulfate(in); Xref=Rhea:RHEA:73199, ChEBI:CHEBI:16189, ChEBI:CHEBI:30780; Evidence=; Reaction=(S)-malate(in) + sulfate(out) = (S)-malate(out) + sulfate(in); Xref=Rhea:RHEA:71615, ChEBI:CHEBI:15589, ChEBI:CHEBI:16189; Evidence=; Reaction=(3S)-citramalate(in) + sulfate(out) = (3S)-citramalate(out) + sulfate(in); Xref=Rhea:RHEA:73223, ChEBI:CHEBI:16189, ChEBI:CHEBI:30936; Evidence=; Reaction=(3R)-citramalate(in) + sulfate(out) = (3R)-citramalate(out) + sulfate(in); Xref=Rhea:RHEA:73227, ChEBI:CHEBI:16189, ChEBI:CHEBI:30934; Evidence=; Reaction=succinate(in) + sulfate(out) = succinate(out) + sulfate(in); Xref=Rhea:RHEA:73411, ChEBI:CHEBI:16189, ChEBI:CHEBI:30031; Evidence=; Reaction=(S,S)-tartrate(in) + sulfate(out) = (S,S)-tartrate(out) + sulfate(in); Xref=Rhea:RHEA:73407, ChEBI:CHEBI:16189, ChEBI:CHEBI:30927; Evidence=; Reaction=(2R,3R)-tartrate(in) + sulfate(out) = (2R,3R)-tartrate(out) + sulfate(in); Xref=Rhea:RHEA:73403, ChEBI:CHEBI:16189, ChEBI:CHEBI:30924; Evidence=; Reaction=D-aspartate(in) + sulfate(out) = D-aspartate(out) + sulfate(in); Xref=Rhea:RHEA:73399, ChEBI:CHEBI:16189, ChEBI:CHEBI:29990; Evidence=; Reaction=L-aspartate(in) + sulfate(out) = L-aspartate(out) + sulfate(in); Xref=Rhea:RHEA:73395, ChEBI:CHEBI:16189, ChEBI:CHEBI:29991; Evidence=; Reaction=sulfate(in) = sulfate(out); Xref=Rhea:RHEA:34983, ChEBI:CHEBI:16189; Evidence=; Reaction=phosphate(in) = phosphate(out); Xref=Rhea:RHEA:32823, ChEBI:CHEBI:43474; Evidence=; Reaction=(S)-malate(out) = (S)-malate(in); Xref=Rhea:RHEA:74555, ChEBI:CHEBI:15589; Evidence=; Interacts with VDAC1. Mitochondrion inner membrane ; Multi-pass membrane protein Present in kidney (at protein level). Expressed predominantly within the kidney cortex in the proximal and distal tubules and at lower levels in the testis and white adipose tissue. Up-regulated during fasting and in the regenerative phase following renal tubular injury. Belongs to the mitochondrial carrier (TC 2.A.29) family. mitochondrion mitochondrial inner membrane membrane integral component of membrane transmembrane transporter activity transmembrane transport uc007uqx.1 uc007uqx.2 uc007uqx.3 
ENSMUST00000022585.5 Gpalpp1 ENSMUST00000022585.5 GPALPP motifs containing 1 (from RefSeq NM_026177.3) ENSMUST00000022585.1 ENSMUST00000022585.2 ENSMUST00000022585.3 ENSMUST00000022585.4 GPAM1_MOUSE Kiaa1704 NM_026177 Q69ZC8 Q8K2V8 uc007urd.1 uc007urd.2 uc007urd.3 Sequence=BAD32516.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; molecular_function cellular_component biological_process uc007urd.1 uc007urd.2 uc007urd.3 
ENSMUST00000022586.2 Nufip1 ENSMUST00000022586.2 nuclear FMR1 interacting protein 1, transcript variant 6 (from RefSeq NR_188814.1) ENSMUST00000022586.1 NR_188814 NUFP1_MOUSE Nufip1 Q9CV69 Q9QXX8 uc007ure.1 uc007ure.2 Binds RNA. Interacts with FMR1 (PubMed:10556305). Interacts with ZNHIT3 (By similarity). Nucleus Note=Distributed in the nucleus in a dot-like pattern. Expressed in the brain; in neurons and not in glial cells. box C/D snoRNP assembly fibrillar center nucleic acid binding RNA binding protein binding nucleus perichromatin fibrils nucleolus transcription elongation factor complex nuclear matrix cytosolic ribosome snoRNA binding protein binding, bridging macromolecular complex identical protein binding synapse positive regulation of transcription from RNA polymerase II promoter metal ion binding presynaptic active zone ATPase binding protein oligomerization pre-snoRNP complex uc007ure.1 uc007ure.2 
ENSMUST00000022587.10 Tsc22d1 ENSMUST00000022587.10 TSC22 domain family, member 1, transcript variant 2 (from RefSeq NM_009366.4) ENSMUST00000022587.1 ENSMUST00000022587.2 ENSMUST00000022587.3 ENSMUST00000022587.4 ENSMUST00000022587.5 ENSMUST00000022587.6 ENSMUST00000022587.7 ENSMUST00000022587.8 ENSMUST00000022587.9 NM_009366 Q3UXU0 Q3UXU0_MOUSE Tsc22d1 uc007urk.1 uc007urk.2 uc007urk.3 uc007urk.4 uc007urk.5 Belongs to the TSC-22/Dip/Bun family. transcription factor activity, sequence-specific DNA binding regulation of transcription, DNA-templated uc007urk.1 uc007urk.2 uc007urk.3 uc007urk.4 uc007urk.5 
ENSMUST00000022589.9 Enox1 ENSMUST00000022589.9 ecto-NOX disulfide-thiol exchanger 1, transcript variant 2 (from RefSeq NM_172813.3) ENOX1_MOUSE ENSMUST00000022589.1 ENSMUST00000022589.2 ENSMUST00000022589.3 ENSMUST00000022589.4 ENSMUST00000022589.5 ENSMUST00000022589.6 ENSMUST00000022589.7 ENSMUST00000022589.8 NM_172813 Q80WS5 Q8BHR2 uc007urw.1 uc007urw.2 uc007urw.3 uc007urw.4 Probably acts as a terminal oxidase of plasma electron transport from cytosolic NAD(P)H via hydroquinones to acceptors at the cell surface. Hydroquinone oxidase activity alternates with a protein disulfide-thiol interchange/oxidoreductase activity which may control physical membrane displacements associated with vesicle budding or cell enlargement. The activities oscillate with a period length of 24 minutes and play a role in control of the ultradian cellular biological clock (By similarity). Name=Cu cation; Xref=ChEBI:CHEBI:23378; Evidence=; Not inhibited by the antitumor sulfonylurea LY181984, the vabilloid capsaicin, and retinoids. Cell membrane Secreted, extracellular space Note=Extracellular and plasma membrane-associated. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BHR2-1; Sequence=Displayed; Name=2; IsoId=Q8BHR2-2; Sequence=VSP_027122; Belongs to the ENOX family. molecular_function nucleic acid binding extracellular region extracellular space plasma membrane ultradian rhythm biological_process external side of plasma membrane membrane oxidoreductase activity rhythmic process oxidation-reduction process uc007urw.1 uc007urw.2 uc007urw.3 uc007urw.4 
ENSMUST00000022591.16 Epsti1 ENSMUST00000022591.16 epithelial stromal interaction 1, transcript variant a (from RefSeq NM_029495.2) A0A140T8I6 A0A140T8I6_MOUSE ENSMUST00000022591.1 ENSMUST00000022591.10 ENSMUST00000022591.11 ENSMUST00000022591.12 ENSMUST00000022591.13 ENSMUST00000022591.14 ENSMUST00000022591.15 ENSMUST00000022591.2 ENSMUST00000022591.3 ENSMUST00000022591.4 ENSMUST00000022591.5 ENSMUST00000022591.6 ENSMUST00000022591.7 ENSMUST00000022591.8 ENSMUST00000022591.9 Epsti1 NM_029495 uc007use.1 uc007use.2 uc007use.3 uc007use.4 uc007use.1 uc007use.2 uc007use.3 uc007use.4 
ENSMUST00000022592.8 Tnfsf11 ENSMUST00000022592.8 tumor necrosis factor (ligand) superfamily, member 11 (from RefSeq NM_011613.4) ENSMUST00000022592.1 ENSMUST00000022592.2 ENSMUST00000022592.3 ENSMUST00000022592.4 ENSMUST00000022592.5 ENSMUST00000022592.6 ENSMUST00000022592.7 NM_011613 O35235 O35306 Opgl Q3TWY5 Q9JJK8 Q9JJK9 Q9R1Y0 Rankl TNF11_MOUSE Trance uc007ush.1 uc007ush.2 uc007ush.3 Cytokine that binds to TNFRSF11B/OPG and to TNFRSF11A/RANK. Osteoclast differentiation and activation factor (PubMed:22437732). Augments the ability of dendritic cells to stimulate naive T-cell proliferation. May be an important regulator of interactions between T- cells and dendritic cells and may play a role in the regulation of the T-cell-dependent immune response. May also play an important role in enhanced bone-resorption in humoral hypercalcemia of malignancy (By similarity). Induces osteoclastogenesis by activating multiple signaling pathways in osteoclast precursor cells, chief among which is induction of long lasting oscillations in the intracellular concentration of Ca (2+) resulting in the activation of NFATC1, which translocates to the nucleus and induces osteoclast-specific gene transcription to allow differentiation of osteoclasts (PubMed:18586671, PubMed:24039232, PubMed:27336669). During osteoclast differentiation, in a TMEM64 and ATP2A2-dependent manner induces activation of CREB1 and mitochondrial ROS generation necessary for proper osteoclast generation (PubMed:23395171, PubMed:26644563). Homotrimer (PubMed:11581298, PubMed:11733492, PubMed:20483727). Interacts with TNFRSF11A and TNFRSF11B (PubMed:20483727, PubMed:23039992). Interacts with FBN1 (via N-terminal domain) in a Ca(+2)-dependent manner (PubMed:24039232). Interacts with TNFAIP6 (via both Link and CUB domains). O35235-1; O35305: Tnfrsf11a; NbExp=6; IntAct=EBI-15890886, EBI-647362; O35235-1; O08712: Tnfrsf11b; NbExp=4; IntAct=EBI-15890886, EBI-16015871; [Isoform 1]: Cell membrane; Single-pass type II membrane protein. [Isoform 2]: Cell membrane; Single-pass type II membrane protein. [Isoform 3]: Cytoplasm. [Tumor necrosis factor ligand superfamily member 11, soluble form]: Secreted. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=O35235-1; Sequence=Displayed; Name=2; IsoId=O35235-2; Sequence=VSP_006449; Name=3; IsoId=O35235-3; Sequence=VSP_006448; Highly expressed in thymus and lymph nodes, but not in non-lymphoid tissues and is abundantly expressed in T-cells but not in B-cells. A high level expression is also seen in the trabecular bone and lung. N-glycosylated. The soluble form of isoform 1 derives from the membrane form by proteolytic processing. The cleavage may be catalyzed by ADAM17. A further shorter soluble form was observed. Note=Deficiency in Tnfsf11 results in failure to form lobulo- alveolar mammary structures during pregnancy, resulting in death of newborns. Trance-deficient mice show severe osteopetrosis, with no osteoclasts, marrow spaces, or tooth eruption, and exhibit profound growth retardation at several skeletal sites, including the limbs, skull, and vertebrae and have marked chondrodysplasia, with thick, irregular growth plates and a relative increase in hypertrophic chondrocytes. Belongs to the tumor necrosis factor family. ossification osteoclast proliferation monocyte chemotaxis cytokine activity tumor necrosis factor receptor binding protein binding extracellular region extracellular space cytoplasm plasma membrane immune response activation of JUN kinase activity multicellular organism development animal organ morphogenesis positive regulation of gene expression membrane integral component of membrane cytokine-mediated signaling pathway calcium-mediated signaling cell differentiation osteoclast differentiation tumor necrosis factor receptor superfamily binding tumor necrosis factor-mediated signaling pathway mammary gland epithelial cell proliferation positive regulation of homotypic cell-cell adhesion osteoclast development paracrine signaling positive regulation of phosphorylation identical protein binding positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of MAP kinase activity tooth eruption bone resorption regulation of osteoclast differentiation positive regulation of osteoclast differentiation positive regulation of bone resorption positive regulation of transcription from RNA polymerase II promoter positive regulation of JNK cascade lymph node development positive regulation of T cell activation positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of NF-kappaB transcription factor activity positive regulation of corticotropin-releasing hormone secretion positive regulation of protein kinase B signaling calcium ion homeostasis bone development mammary gland alveolus development ERK1 and ERK2 cascade positive regulation of fever generation by positive regulation of prostaglandin secretion TNFSF11-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling positive regulation of intracellular signal transduction regulation of actin binding cellular response to leukemia inhibitory factor positive regulation of osteoclast development uc007ush.1 uc007ush.2 uc007ush.3 
ENSMUST00000022595.8 Rgcc ENSMUST00000022595.8 regulator of cell cycle (from RefSeq NM_025427.2) ENSMUST00000022595.1 ENSMUST00000022595.2 ENSMUST00000022595.3 ENSMUST00000022595.4 ENSMUST00000022595.5 ENSMUST00000022595.6 ENSMUST00000022595.7 NM_025427 Q9D0U0 Q9DBX1 RGCC_MOUSE Rgc32 uc007ust.1 uc007ust.2 uc007ust.3 Modulates the activity of cell cycle-specific kinases. Enhances CDK1 activity. May contribute to the regulation of the cell cycle. May inhibit growth of glioma cells by promoting arrest of mitotic progression at the G2/M transition. Fibrogenic factor contributing to the pathogenesis of renal fibrosis through fibroblast activation. Interacts with CDK1 and PLK1 (By similarity). Interacts with SMAD3. Cytoplasm Nucleus Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Note=Cytoplasmic in unstimulated cells. Nuclear after activation by complement. Associated with the centrosome during prometaphase and metaphase (By similarity). G1/S transition of mitotic cell cycle negative regulation of exit from mitosis negative regulation of endothelial cell proliferation positive regulation of extracellular matrix constituent secretion protein binding nucleus nucleolus cytoplasm centrosome microtubule organizing center cytoskeleton complement activation cell cycle negative regulation of cell proliferation positive regulation of gene expression positive regulation of epithelial to mesenchymal transition negative regulation of angiogenesis protein kinase binding protein kinase activator activity activation of protein kinase activity positive regulation of collagen biosynthetic process negative regulation of blood vessel endothelial cell migration positive regulation of cyclin-dependent protein serine/threonine kinase activity positive regulation of mitotic nuclear division positive regulation of transcription from RNA polymerase II promoter negative regulation of cytokine secretion positive regulation of cytokine secretion positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of stress fiber assembly regulation of cell cycle R-SMAD binding positive regulation of cell cycle arrest cellular response to hypoxia mitotic cell cycle arrest fibroblast activation negative regulation of fibroblast growth factor production positive regulation of G1/S transition of mitotic cell cycle positive regulation of extracellular matrix assembly negative regulation of mitotic cell cycle phase transition negative regulation of cell-cell adhesion mediated by cadherin positive regulation of endothelial cell apoptotic process positive regulation of DNA biosynthetic process uc007ust.1 uc007ust.2 uc007ust.3 
ENSMUST00000022597.15 Naa16 ENSMUST00000022597.15 N(alpha)-acetyltransferase 16, NatA auxiliary subunit (from RefSeq NM_025832.2) ENSMUST00000022597.1 ENSMUST00000022597.10 ENSMUST00000022597.11 ENSMUST00000022597.12 ENSMUST00000022597.13 ENSMUST00000022597.14 ENSMUST00000022597.2 ENSMUST00000022597.3 ENSMUST00000022597.4 ENSMUST00000022597.5 ENSMUST00000022597.6 ENSMUST00000022597.7 ENSMUST00000022597.8 ENSMUST00000022597.9 NAA16_MOUSE NM_025832 Narg1l Nat2 Q3U7V2 Q9DBB4 uc007usv.1 uc007usv.2 uc007usv.3 Auxillary subunit of the N-terminal acetyltransferase A (NatA) complex which displays alpha (N-terminal) acetyltransferase activity. Component of the N-terminal acetyltransferase A (NatA) complex composed of NAA10 and NAA16. Highest levels in the kidney and testes. Moderate expression in the liver, thymus and skin. peptide alpha-N-acetyltransferase activity cytoplasm cytosol N-terminal protein amino acid acetylation N-terminal peptidyl-methionine acetylation NatA complex ribosome binding negative regulation of apoptotic process protein stabilization uc007usv.1 uc007usv.2 uc007usv.3 
ENSMUST00000022600.4 Mtrf1 ENSMUST00000022600.4 mitochondrial translational release factor 1 (from RefSeq NM_145960.4) ENSMUST00000022600.1 ENSMUST00000022600.2 ENSMUST00000022600.3 Mtrf1 NM_145960 Q8K126 RF1M_MOUSE uc007usx.1 uc007usx.2 uc007usx.3 uc007usx.4 Mitochondrial peptide chain release factor that directs the termination of translation in response to the peptide chain non- canonical stop codons AGG and AGA. Non-canonical termination codons AGG and AGA are found at the end of MT-CO1/COX1 and MT-ND6/ND6 open reading frames, respectively. Recognizes non-canonical stop codons via a network of interactions between the codon, MTRF1 and the ribosomal RNA (rRNA): in contrast to other translation release factors, which identify the codon in the A-site via direct interactions of amino acid side chains with the bases, MTRF1 repositions the first 2 bases of the stop codon to use an intricate network of interactions that includes residues of the release factor, the rRNA of the small ribosomal subunit, as well as neighboring bases of the mRNA. Mitochondrion The GGQ domain interacts with the peptidyltransferase center (PTC) of the large ribosomal subunit to trigger nascent chain hydrolysis. Methylation of glutamine in the GGQ triplet by HEMK1 is conserved from bacteria to mammals. Belongs to the prokaryotic/mitochondrial release factor family. translation release factor activity mitochondrion translation translational termination translation release factor activity, codon specific ribosome binding mitochondrial translational termination uc007usx.1 uc007usx.2 uc007usx.3 uc007usx.4 
ENSMUST00000022601.7 Wbp4 ENSMUST00000022601.7 WW domain binding protein 4 (from RefSeq NM_018765.3) ENSMUST00000022601.1 ENSMUST00000022601.2 ENSMUST00000022601.3 ENSMUST00000022601.4 ENSMUST00000022601.5 ENSMUST00000022601.6 Fbp21 Fnbp21 NM_018765 Q3TUU8 Q61048 Q8K1Z9 Q9CS45 WBP4_MOUSE uc007uta.1 uc007uta.2 uc007uta.3 Involved in pre-mRNA splicing as a component of the spliceosome. May play a role in cross-intron bridging of U1 and U2 snRNPs in the mammalian A complex. Component of the spliceosome B complex (PubMed:9724750). Associated with U2 snRNPs. Binds splicing factors SNRPB, SNRPC and SF1 (PubMed:9724750). Interacts via the WW domains with the Pro-rich domains of KHDRBS1/SAM68 (PubMed:10748127). Interacts via the WW domains with the Pro-rich domains of WBP11 (By similarity). Interacts with SNRNP200 (By similarity). Nucleus Nucleus speckle The WW domain recognizes the proline, glycine and methionine- rich (PGM) motif present in the splicing factors, as well as the Arg/Gly-rich-flanked Pro-rich domains found in several WW domain- binding proteins. mRNA splicing, via spliceosome nucleic acid binding protein binding nucleus spliceosomal complex mRNA processing zinc ion binding RNA splicing nuclear speck mRNA cis splicing, via spliceosome metal ion binding proline-rich region binding U2-type precatalytic spliceosome uc007uta.1 uc007uta.2 uc007uta.3 
ENSMUST00000022603.8 Cnmd ENSMUST00000022603.8 chondromodulin, transcript variant 2 (from RefSeq NM_010701.4) CNMD_MOUSE Chmi Cnmd ENSMUST00000022603.1 ENSMUST00000022603.2 ENSMUST00000022603.3 ENSMUST00000022603.4 ENSMUST00000022603.5 ENSMUST00000022603.6 ENSMUST00000022603.7 Lect1 NM_010701 Q80UX1 Q9CXU5 Q9Z1F6 uc007utg.1 uc007utg.2 uc007utg.3 uc007utg.4 uc007utg.5 Bifunctional growth regulator that stimulates the growth of cultured chondrocytes in the presence of basic fibroblast growth factor (FGF) but inhibits the growth of cultured vascular endothelial cells. May contribute to the rapid growth of cartilage and vascular invasion prior to the replacement of cartilage by bone during endochondral bone development (By similarity). Inhibits in vitro tube formation and mobilization of endothelial cells (By similarity). Plays a role as antiangiogenic factor in cardiac valves to suppress neovascularization. [Chondromodulin-1]: Secreted, extracellular space, extracellular matrix Note=Accumulated in the inter-territorial matrix of cartilage. [Chondrosurfactant protein]: Endomembrane system ; Single-pass membrane protein Detected in the four cardiac valves, valvular interstitial cells and extracellular matrix (at protein level). Detected from 9.5 dpc in the cardiac valve precursor cells from the atrioventricular cushions and outflow. At 10 dpc expressed in the cardiac jelly covering the trabeculating cardiomyocytes of the left ventricle, the outer curvature of the right ventricle and the outflow tract. Expression in the ventricles decreased gradually as development progressed, and disappeared by mid- embryogenesis (at protein level). After cleavage, the post-translationally modified ChM-I is secreted as a glycoprotein. Aged mice show enhanced VEGFA expression, angiogenesis, inflammatory cell infiltration, aortic stenosis, lipid deposition and calcification in the cardiac valves. Belongs to the chondromodulin-1 family. endothelial cell morphogenesis negative regulation of endothelial cell proliferation extracellular region multicellular organism development endomembrane system membrane integral component of membrane negative regulation of angiogenesis cell differentiation negative regulation of vascular endothelial growth factor receptor signaling pathway cartilage development uc007utg.1 uc007utg.2 uc007utg.3 uc007utg.4 uc007utg.5 
ENSMUST00000022610.15 Scara5 ENSMUST00000022610.15 scavenger receptor class A, member 5, transcript variant 1 (from RefSeq NM_028903.2) ENSMUST00000022610.1 ENSMUST00000022610.10 ENSMUST00000022610.11 ENSMUST00000022610.12 ENSMUST00000022610.13 ENSMUST00000022610.14 ENSMUST00000022610.2 ENSMUST00000022610.3 ENSMUST00000022610.4 ENSMUST00000022610.5 ENSMUST00000022610.6 ENSMUST00000022610.7 ENSMUST00000022610.8 ENSMUST00000022610.9 NM_028903 Q8BZZ2 Q8K299 Q8R330 Q91WD6 Q9CUC3 Q9D4G8 SCAR5_MOUSE Scara5 uc007ujn.1 uc007ujn.2 uc007ujn.3 Ferritin receptor that mediates non-transferrin-dependent delivery of iron. Mediates cellular uptake of ferritin-bound iron by stimulating ferritin endocytosis from the cell surface with consequent iron delivery within the cell. Delivery of iron to cells by ferritin is required for the development of specific cell types, suggesting the existence of cell type-specific mechanisms of iron traffic in organogenesis, which alternatively utilize transferrin or non- transferrin iron delivery pathways. Ferritin mediates iron uptake in capsule cells of the developing kidney. Preferentially binds ferritin light chain (FTL) compared to heavy chain (FTH1). Homotrimer. Cell membrane ingle-pass type II membrane protein Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8K299-1; Sequence=Displayed; Name=2; IsoId=Q8K299-2; Sequence=VSP_023477, VSP_023478; Name=3; IsoId=Q8K299-3; Sequence=VSP_023476, VSP_023477, VSP_023478; Expressed in the testis, trachea, lung, bladder and small intestine; especially in epithelial cells associated with mucosal surfaces. Belongs to the SCARA5 family. scavenger receptor activity protein binding plasma membrane integral component of plasma membrane ion transport cellular iron ion homeostasis endocytosis cell surface membrane integral component of membrane endocytic vesicle membrane cellular response to heat iron ion transmembrane transport iron ion homeostasis protein homotrimerization ferritin receptor activity uc007ujn.1 uc007ujn.2 uc007ujn.3 
ENSMUST00000022612.10 Pbk ENSMUST00000022612.10 PDZ binding kinase, transcript variant 1 (from RefSeq NM_023209.3) ENSMUST00000022612.1 ENSMUST00000022612.2 ENSMUST00000022612.3 ENSMUST00000022612.4 ENSMUST00000022612.5 ENSMUST00000022612.6 ENSMUST00000022612.7 ENSMUST00000022612.8 ENSMUST00000022612.9 NM_023209 Q922V2 Q9D184 Q9JJ78 TOPK_MOUSE Topk uc007ujo.1 uc007ujo.2 uc007ujo.3 Phosphorylates MAP kinase p38. Seems to be active only in mitosis. May also play a role in the activation of lymphoid cells. When phosphorylated, forms a complex with TP53, leading to TP53 destabilization (By similarity). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.12.2; Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.12.2; Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.12.2; Activated by phosphorylation. Interacts with DLG1 and TP53. Phosphorylated; in a cell-cycle dependent manner at mitosis. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. nucleotide binding mitotic cell cycle negative regulation of protein phosphorylation protein kinase activity protein serine/threonine kinase activity ATP binding nucleus protein phosphorylation kinase activity phosphorylation transferase activity peptidyl-serine phosphorylation peptidyl-threonine phosphorylation negative regulation of proteasomal ubiquitin-dependent protein catabolic process negative regulation of stress-activated MAPK cascade cellular response to UV negative regulation of inflammatory response uc007ujo.1 uc007ujo.2 uc007ujo.3 
ENSMUST00000022613.10 Esco2 ENSMUST00000022613.10 establishment of sister chromatid cohesion N-acetyltransferase 2 (from RefSeq NM_028039.2) ENSMUST00000022613.1 ENSMUST00000022613.2 ENSMUST00000022613.3 ENSMUST00000022613.4 ENSMUST00000022613.5 ENSMUST00000022613.6 ENSMUST00000022613.7 ENSMUST00000022613.8 ENSMUST00000022613.9 ESCO2_MOUSE NM_028039 Q3UMT6 Q6IQX5 Q8BNG9 Q8BQF8 Q8CIB9 Q9CRI8 uc007ujp.1 uc007ujp.2 uc007ujp.3 uc007ujp.4 Acetyltransferase required for the establishment of sister chromatid cohesion. Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during the S phase. Acetylates the cohesin component SMC3. Reaction=acetyl-CoA + L-lysyl-[protein] = CoA + H(+) + N(6)-acetyl-L- lysyl-[protein]; Xref=Rhea:RHEA:45948, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10731, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:61930; Evidence=; Nucleus Chromosome Note=Nuclear in interphase cells, excluded from chromosomes during metaphase but reassociates with chromosomes in telophase. At 14.5 dpc the expression is detected in developing murine lip, eyelid, palate, digit, tongue and hair follicles. Its expression is also observed in the long bones of the developing forelimb but not the hindlimb. The N-terminal region seems to be responsible for association with chromosomes, thus excluding any involvement of the Zn finger in this process. Belongs to the acetyltransferase family. ECO subfamily. Sequence=BAB26905.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; chromatin XY body hematopoietic progenitor cell differentiation lysine N-acetyltransferase activity, acting on acetyl phosphate as donor nucleus chromosome Golgi apparatus regulation of DNA replication double-strand break repair cell cycle chromosome segregation sister chromatid cohesion chromocenter acetyltransferase activity transferase activity transferase activity, transferring acyl groups cell junction nuclear pericentric heterochromatin post-translational protein acetylation site of double-strand break metal ion binding protein localization to chromatin uc007ujp.1 uc007ujp.2 uc007ujp.3 uc007ujp.4 
ENSMUST00000022614.7 Ccdc25 ENSMUST00000022614.7 coiled-coil domain containing 25 (from RefSeq NM_145944.5) CCD25_MOUSE Ccdc25 ENSMUST00000022614.1 ENSMUST00000022614.2 ENSMUST00000022614.3 ENSMUST00000022614.4 ENSMUST00000022614.5 ENSMUST00000022614.6 NM_145944 Q78PG9 Q9CSQ8 Q9CUF8 uc007ujq.1 uc007ujq.2 uc007ujq.3 Transmembrane receptor that senses neutrophil extracellular traps (NETs) and triggers the ILK-PARVB pathway to enhance cell motility. NETs are mainly composed of DNA fibers and are released by neutrophils to bind pathogens during inflammation (By similarity). Formation of NETs is also associated with cancer metastasis, NET-DNA acting as a chemotactic factor to attract cancer cells (By similarity). Specifically binds NETs on its extracellular region, in particular the 8-OHdG-enriched DNA present in NETs, and recruits ILK, initiating the ILK-PARVB cascade to induce cytoskeleton rearrangement and directional migration of cells (By similarity). In the context of cancer, promotes cancer metastasis by sensing NETs and promoting migration of tumor cells (By similarity). Interacts (via cytoplasmic region) with ILK. Cell membrane ; Single-pass membrane protein Endomembrane system Note=Localizes to cytoplasmic membrane in tumor cells. In the context of cancer, mice display reduced metastase formation, without affecting primary tumor growth. Belongs to the CCDC25 family. molecular_function biological_process uc007ujq.1 uc007ujq.2 uc007ujq.3 
ENSMUST00000022616.14 Clu ENSMUST00000022616.14 clusterin, transcript variant 1 (from RefSeq NM_013492.4) Clu ENSMUST00000022616.1 ENSMUST00000022616.10 ENSMUST00000022616.11 ENSMUST00000022616.12 ENSMUST00000022616.13 ENSMUST00000022616.2 ENSMUST00000022616.3 ENSMUST00000022616.4 ENSMUST00000022616.5 ENSMUST00000022616.6 ENSMUST00000022616.7 ENSMUST00000022616.8 ENSMUST00000022616.9 NM_013492 Q549A5 Q549A5_MOUSE uc007ujs.1 uc007ujs.2 uc007ujs.3 uc007ujs.4 uc007ujs.5 The protein encoded by this gene is a secreted chaperone that can, under some stress conditions, also be found in the cell cytosol. It has been suggested to be involved in several basic biological events such as cell death, tumor progression, and neurodegenerative disorders. The encoded preproprotein undergoes proteolytic processing to generate a disulfide-linked heterodimeric mature protein comprised of alpha and beta subunits. Mice lacking the encoded protein exhibit increased severity of autoimmune myocarditis, faster progression of the acute inflammation to myocardial scarring and decreased brain injury following neonatal hypoxic-ischemic injury. [provided by RefSeq, Nov 2015]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: L05670.1, SRR1660817.34394.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Functions as extracellular chaperone that prevents aggregation of non native proteins. Prevents stress-induced aggregation of blood plasma proteins. Antiparallel disulfide-linked heterodimer of an alpha chain and a beta chain. Self-associates and forms higher oligomers. Cytoplasm, cytosol Cytoplasm, perinuclear region Cytoplasmic vesicle, secretory vesicle, chromaffin granule Endoplasmic reticulum Membrane ; Peripheral membrane protein ; Cytoplasmic side Microsome Mitochondrion membrane ; Peripheral membrane protein ; Cytoplasmic side Nucleus Secreted Belongs to the clusterin family. cell morphogenesis beta-amyloid binding microglial cell activation receptor binding extracellular region extracellular space nucleus cytoplasm mitochondrion mitochondrial inner membrane cytosol cytoskeleton response to virus cell surface membrane protein import negative regulation of protein complex assembly positive regulation of protein complex assembly ubiquitin protein ligase binding central nervous system myelin maintenance positive regulation of proteasomal ubiquitin-dependent protein catabolic process positive regulation of tumor necrosis factor production macromolecular complex spherical high-density lipoprotein particle regulation of cell proliferation intracellular membrane-bounded organelle macromolecular complex binding positive regulation of nitric oxide biosynthetic process tau protein binding positive regulation of receptor-mediated endocytosis perinuclear region of cytoplasm low-density lipoprotein particle receptor binding protein stabilization unfolded protein binding positive regulation of NF-kappaB transcription factor activity chaperone-mediated protein complex assembly misfolded protein binding response to misfolded protein negative regulation of cell death chaperone-mediated protein folding microglial cell proliferation cell periphery neurofibrillary tangle apical dendrite perinuclear endoplasmic reticulum lumen regulation of beta-amyloid clearance regulation of neuron death positive regulation of neuron death negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage negative regulation of beta-amyloid formation regulation of neuronal signal transduction positive regulation of tau-protein kinase activity positive regulation of neurofibrillary tangle assembly negative regulation of response to endoplasmic reticulum stress positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process uc007ujs.1 uc007ujs.2 uc007ujs.3 uc007ujs.4 uc007ujs.5 
ENSMUST00000022618.6 Adam2 ENSMUST00000022618.6 a disintegrin and metallopeptidase domain 2 (from RefSeq NM_009618.4) ADAM2_MOUSE Adam2 ENSMUST00000022618.1 ENSMUST00000022618.2 ENSMUST00000022618.3 ENSMUST00000022618.4 ENSMUST00000022618.5 Ftnb NM_009618 Q60718 Q60814 Q9D4G3 Q9QWJ0 uc007uju.1 uc007uju.2 uc007uju.3 uc007uju.4 This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is predominantly expressed in the epididymis, where the encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Male mice lacking the encoded protein are infertile and exhibit multiple defects in reproduction. [provided by RefSeq, May 2016]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK161266.1, U38806.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849384 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Sperm surface membrane protein that may be involved in sperm- egg plasma membrane adhesion and fusion during fertilization. Could have a direct role in sperm-zona binding or migration of sperm from the uterus into the oviduct. Interactions with egg membrane could be mediated via binding between its disintegrin-like domain to one or more integrins receptors on the egg. This is a non catalytic metalloprotease-like protein (By similarity). Heterodimer with ADAM1/fertilin subunit alpha. Membrane; Single-pass type I membrane protein. Expressed in the testis and testicular sperm (at protein level). A tripeptide motif (QDE) within disintegrin-like domain could be involved in the binding to egg integrin receptor and thus could mediate sperm/egg binding. The signal and the metalloprotease domain are cleaved during the epididymal maturation of the spermatozoa. acrosomal vesicle metalloendopeptidase activity protein binding proteolysis cell adhesion single fertilization metallopeptidase activity visual learning cell surface positive regulation of gene expression membrane integral component of membrane adult behavior macromolecular complex uc007uju.1 uc007uju.2 uc007uju.3 uc007uju.4 
ENSMUST00000022622.14 Ptk2b ENSMUST00000022622.14 PTK2 protein tyrosine kinase 2 beta, transcript variant 1 (from RefSeq NM_001162366.2) B2RQ16 ENSMUST00000022622.1 ENSMUST00000022622.10 ENSMUST00000022622.11 ENSMUST00000022622.12 ENSMUST00000022622.13 ENSMUST00000022622.2 ENSMUST00000022622.3 ENSMUST00000022622.4 ENSMUST00000022622.5 ENSMUST00000022622.6 ENSMUST00000022622.7 ENSMUST00000022622.8 ENSMUST00000022622.9 FAK2_MOUSE Fak2 G3X8V1 NM_001162366 Pyk2 Q9QVP9 Raftk uc011znr.1 uc011znr.2 uc011znr.3 Non-receptor protein-tyrosine kinase that regulates reorganization of the actin cytoskeleton, cell polarization, cell migration, adhesion, spreading and bone remodeling. Plays a role in the regulation of the humoral immune response, and is required for normal levels of marginal B-cells in the spleen and normal migration of splenic B-cells. Required for normal macrophage polarization and migration towards sites of inflammation. Regulates cytoskeleton rearrangement and cell spreading in T-cells, and contributes to the regulation of T-cell responses. Promotes osteoclastic bone resorption; this requires both PTK2B/PYK2 and SRC. May inhibit differentiation and activity of osteoprogenitor cells. Functions in signaling downstream of integrin and collagen receptors, immune receptors, G-protein coupled receptors (GPCR), cytokine, chemokine and growth factor receptors, and mediates responses to cellular stress. Forms multisubunit signaling complexes with SRC and SRC family members upon activation; this leads to the phosphorylation of additional tyrosine residues, creating binding sites for scaffold proteins, effectors and substrates. Regulates numerous signaling pathways. Promotes activation of phosphatidylinositol 3-kinase and of the AKT1 signaling cascade. Promotes activation of NOS3. Regulates production of the cellular messenger cGMP. Promotes activation of the MAP kinase signaling cascade, including activation of MAPK1/ERK2, MAPK3/ERK1 and MAPK8/JNK1. Promotes activation of Rho family GTPases, such as RHOA and RAC1. Recruits the ubiquitin ligase MDM2 to P53/TP53 in the nucleus, and thereby regulates P53/TP53 activity, P53/TP53 ubiquitination and proteasomal degradation. Acts as a scaffold, binding to both PDPK1 and SRC, thereby allowing SRC to phosphorylate PDPK1 at 'Tyr-9, 'Tyr-373', and 'Tyr-376' (By similarity). Promotes phosphorylation of NMDA receptors by SRC family members, and thereby contributes to the regulation of NMDA receptor ion channel activity and intracellular Ca(2+) levels. May also regulate potassium ion transport by phosphorylation of potassium channel subunits. Phosphorylates SRC; this increases SRC kinase activity. Phosphorylates ASAP1, NPHP1, KCNA2 and SHC1. Promotes phosphorylation of ASAP2, RHOU and PXN; this requires both SRC and PTK2/PYK2 (By similarity). Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.2; Evidence= Activated in response to stimuli that lead to increased intracellular Ca(2+) levels; this activation is indirect and may be mediated by calcium-mediated production of reactive oxygen species (ROS). Activated by autophosphorylation at Tyr-402; this creates a binding site for SRC family kinases and leads to phosphorylation at additional tyrosine residues. Phosphorylation at Tyr-402, Tyr-579 and Tyr-580 is required for optimal kinase activity. Homodimer, or homooligomer. Interacts with KCNA2 (By similarity). Interacts with NPHP1, ASAP1, ASAP2, ARHGAP26, SKAP2 and TGFB1I1. The Tyr-402 phosphorylated form interacts with SRC (via SH2 domain) and SRC family members. Forms a signaling complex with EPHA1, LCK and phosphatidylinositol 3-kinase; upon activation by EFNA1. Interacts with GRB2 (via SH2 domain). Interacts with P53/TP53 and MDM2. Interacts with MYLK. Interacts with BCAR1. Interacts with RB1CC1. Interacts with RHOU. Interacts with VAV1. Interacts with PDPK1. Interacts with DLG4. Interacts with LPXN and PTPN12. Interacts with SIRPA and SH2D3C. Interacts (hypophosphorylated) with PXN. Interacts with ARHGAP10. Cytoplasm. Cytoplasm, perinuclear region Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, focal adhesion. Cell projection, lamellipodium Cytoplasm, cell cortex Nucleus Note=Colocalizes with integrins at the cell periphery (By similarity). Interaction with NPHP1 induces the membrane- association of the kinase. Colocalizes with PXN at the microtubule- organizing center. The tyrosine phosphorylated form is detected at cell-cell contacts. Phosphorylated on tyrosine residues in response to various stimuli that elevate the intracellular calcium concentration; this activation is indirect and may be mediated by production of reactive oxygen species (ROS). Tyr-402 is the major autophosphorylation site, but other kinases can also phosphorylate Tyr-402. Autophosphorylation occurs in trans, i.e. one subunit of the dimeric receptor phosphorylates tyrosine residues on the other subunit. Phosphorylation at Tyr-402 promotes interaction with SRC and SRC family members, leading to phosphorylation at Tyr-579; Tyr-580 and Tyr-881. Phosphorylation at Tyr-881 is important for interaction with GRB2. Phosphorylated on tyrosine residues upon activation of FGR and PKC. Recruitment by NPHP1 to cell matrix adhesions initiates Tyr-402 phosphorylation. In monocytes, adherence to substrata is required for tyrosine phosphorylation and kinase activation. Angiotensin II, thapsigargin and L-alpha- lysophosphatidic acid (LPA) also induce autophosphorylation and increase kinase activity. Phosphorylation by MYLK promotes ITGB2 activation and is thus essential to trigger neutrophil transmigration during lung injury. Dephosphorylated by PTPN12 (By similarity). Mice are born at the expected Mendelian rate, appear normal and are fertile. Mice display increased bone formation and high bone mass, due to defects in osteoclastic bone resorption. Osteoclasts display defects in actin cytoskeleton reorganization, plus altered Rho activity, microtubule stabilization and podosome organization. Mice also display increased differentiation and activity of osteoprogenitor cells. Macrophages from mutant mice display defects in their responses to chemokines, including defects in cell polarization, actin cytoskeleton reorganization, directed migration towards sites of inflammation, but also defects in the regulation of intracellular Ca(2+) levels, phosphatidylinositol 3-kinase activity and inositol 1,4,5-trisphosphate production. Mutant mice have normal B-cell polulations in bone marrow, lymph nodes and blood, but lack marginal zone B-cells in the spleen. Belongs to the protein kinase superfamily. Tyr protein kinase family. FAK subfamily. MAPK cascade nucleotide binding response to reactive oxygen species angiogenesis oocyte maturation response to hypoxia positive regulation of cell-matrix adhesion sprouting angiogenesis adaptive immune response marginal zone B cell differentiation immune system process regulation of leukocyte chemotaxis protein kinase activity calmodulin-dependent protein kinase activity protein tyrosine kinase activity non-membrane spanning protein tyrosine kinase activity NMDA glutamate receptor activity protein binding ATP binding nucleus cytoplasm cytoskeleton plasma membrane focal adhesion cell cortex protein phosphorylation cellular defense response response to osmotic stress actin filament organization cell adhesion signal transduction cell surface receptor signaling pathway signal complex assembly epidermal growth factor receptor signaling pathway positive regulation of cytosolic calcium ion concentration integrin-mediated signaling pathway protein C-terminus binding positive regulation of cell proliferation negative regulation of cell proliferation regulation of cell shape response to mechanical stimulus response to hormone response to glucose response to lithium ion response to organonitrogen compound positive regulation of endothelial cell migration negative regulation of muscle cell apoptotic process regulation of cGMP-mediated signaling regulation of macrophage chemotaxis positive regulation of neuron projection development glial cell proliferation postsynaptic density membrane kinase activity phosphorylation transferase activity NMDA selective glutamate receptor complex peptidyl-tyrosine phosphorylation enzyme binding lamellipodium cell junction cell differentiation regulation of cell adhesion negative regulation of ossification positive regulation of cell growth regulation of cell migration positive regulation of cell migration axon dendrite growth cone regulation of bone mineralization negative regulation of bone mineralization positive regulation of actin filament polymerization neuron projection development extrinsic component of cytoplasmic side of plasma membrane ubiquitin protein ligase binding positive regulation of cellular protein metabolic process regulation of inositol trisphosphate biosynthetic process tumor necrosis factor-mediated signaling pathway ionotropic glutamate receptor signaling pathway response to immobilization stress peptidyl-tyrosine autophosphorylation regulation of cell proliferation response to cocaine response to drug response to hydrogen peroxide activation of Janus kinase activity cell projection neuronal cell body negative regulation of apoptotic process stress fiber assembly dendritic spine negative regulation of potassium ion transport 3-phosphoinositide-dependent protein kinase binding positive regulation of JUN kinase activity negative regulation of neuron apoptotic process blood vessel endothelial cell migration positive regulation of phosphatidylinositol 3-kinase activity cell body macromolecular complex binding membrane raft regulation of nitric oxide biosynthetic process positive regulation of nitric oxide biosynthetic process bone resorption response to ethanol negative regulation of myeloid cell differentiation positive regulation of translation regulation of angiogenesis positive regulation of angiogenesis positive regulation of protein kinase activity positive regulation of JNK cascade vascular endothelial growth factor receptor signaling pathway focal adhesion assembly perinuclear region of cytoplasm positive regulation of peptidyl-tyrosine phosphorylation regulation of calcium-mediated signaling positive regulation of nitric-oxide synthase activity regulation of release of sequestered calcium ion into cytosol response to cAMP response to calcium ion positive regulation of synaptic transmission, glutamatergic long-term synaptic potentiation long term synaptic depression chemokine-mediated signaling pathway positive regulation of ERK1 and ERK2 cascade cellular response to retinoic acid cellular response to fluid shear stress activation of GTPase activity apical dendrite postsynapse glutamatergic synapse regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process regulation of establishment of cell polarity regulation of actin cytoskeleton reorganization regulation of N-methyl-D-aspartate selective glutamate receptor activity positive regulation of reactive oxygen species metabolic process positive regulation of excitatory postsynaptic potential positive regulation of B cell chemotaxis positive regulation of DNA biosynthetic process uc011znr.1 uc011znr.2 uc011znr.3 
ENSMUST00000022623.13 Trim35 ENSMUST00000022623.13 tripartite motif-containing 35 (from RefSeq NM_029979.3) A0A0R4J031 A0A0R4J031_MOUSE ENSMUST00000022623.1 ENSMUST00000022623.10 ENSMUST00000022623.11 ENSMUST00000022623.12 ENSMUST00000022623.2 ENSMUST00000022623.3 ENSMUST00000022623.4 ENSMUST00000022623.5 ENSMUST00000022623.6 ENSMUST00000022623.7 ENSMUST00000022623.8 ENSMUST00000022623.9 NM_029979 Trim35 uc007ukd.1 uc007ukd.2 uc007ukd.3 zinc ion binding positive regulation of apoptotic process innate immune response negative regulation of mitotic cell cycle metal ion binding negative regulation of viral release from host cell uc007ukd.1 uc007ukd.2 uc007ukd.3 
ENSMUST00000022629.9 Dpysl2 ENSMUST00000022629.9 dihydropyrimidinase-like 2, transcript variant 2 (from RefSeq NM_009955.3) Crmp2 DPYL2_MOUSE ENSMUST00000022629.1 ENSMUST00000022629.2 ENSMUST00000022629.3 ENSMUST00000022629.4 ENSMUST00000022629.5 ENSMUST00000022629.6 ENSMUST00000022629.7 ENSMUST00000022629.8 NM_009955 O08553 Q6P5D0 Ulip2 uc007uko.1 uc007uko.2 uc007uko.3 Plays a role in neuronal development and polarity, as well as in axon growth and guidance, neuronal growth cone collapse and cell migration. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. May play a role in endocytosis. Homotetramer, and heterotetramer with CRMP1, DPYSL3, DPYSL4 or DPYSL5. Interacts through its C-terminus with the C-terminus of CYFIP1/SRA1. Interacts with HTR4. Interacts with CLN6. Interacts with MICALL1. Cytoplasm, cytosol Cytoplasm, cytoskeleton Membrane Note=Tightly but non-covalently associated with membranes. Phosphorylation by DYRK2 at Ser-522 is required for subsequent phosphorylation by GSK3B (By similarity). Phosphorylation at Thr-514 by GSK3B abolishes tubulin-binding leading to destabilization of microtubule assembly in axons and neurodegeneration. Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family. Lacks most of the conserved residues that are essential for binding the metal cofactor and hence for dihydropyrimidinase activity. Its enzyme activity is therefore unsure. response to amphetamine protein binding cytoplasm mitochondrion cytosol cytoskeleton plasma membrane endocytosis cytoskeleton organization multicellular organism development nervous system development axon guidance brain development microtubule binding regulation of neuron projection development positive regulation of glutamate secretion membrane hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides protein kinase binding spinal cord development olfactory bulb development cell differentiation axon dendrite growth cone regulation of axon extension macromolecular complex response to cocaine response to drug identical protein binding neuron projection neuronal cell body terminal bouton myelin sheath regulation of neuron differentiation synaptic vesicle transport presynapse microtubule dihydropyrimidinase activity pyrimidine nucleobase catabolic process uc007uko.1 uc007uko.2 uc007uko.3 
ENSMUST00000022634.9 Bnip3l ENSMUST00000022634.9 BCL2/adenovirus E1B interacting protein 3-like, transcript variant 1 (from RefSeq NM_009761.4) BNI3L_MOUSE ENSMUST00000022634.1 ENSMUST00000022634.2 ENSMUST00000022634.3 ENSMUST00000022634.4 ENSMUST00000022634.5 ENSMUST00000022634.6 ENSMUST00000022634.7 ENSMUST00000022634.8 NM_009761 Nix Q545J6 Q9Z2F7 uc007uks.1 uc007uks.2 uc007uks.3 uc007uks.4 Induces apoptosis. Interacts with viral and cellular anti- apoptosis proteins. Can overcome the suppressors BCL-2 and BCL-XL, although high levels of BCL-XL expression will inhibit apoptosis. Inhibits apoptosis induced by BNIP3. Involved in mitochondrial quality control via its interaction with SPATA18/MIEAP: in response to mitochondrial damage, participates in mitochondrial protein catabolic process (also named MALM) leading to the degradation of damaged proteins inside mitochondria. The physical interaction of SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outer membrane regulates the opening of a pore in the mitochondrial double membrane in order to mediate the translocation of lysosomal proteins from the cytoplasm to the mitochondrial matrix (By similarity). May function as a tumor suppressor (By similarity). Self-associates. Interacts with BNIP3 and STEAP3. Interacts (via BH3 domain) with SPATA18 (via coiled-coil domains) (By similarity). Q9Z2F7; Q69ZI1: Sh3rf1; NbExp=4; IntAct=EBI-1774669, EBI-957380; Q9Z2F7; O95166: GABARAP; Xeno; NbExp=2; IntAct=EBI-1774669, EBI-712001; Q9Z2F7; Q9H0R8: GABARAPL1; Xeno; NbExp=4; IntAct=EBI-1774669, EBI-746969; Q9Z2F7; P60520: GABARAPL2; Xeno; NbExp=2; IntAct=EBI-1774669, EBI-720116; Q9Z2F7; Q9H492: MAP1LC3A; Xeno; NbExp=7; IntAct=EBI-1774669, EBI-720768; Q9Z2F7; Q9GZQ8: MAP1LC3B; Xeno; NbExp=5; IntAct=EBI-1774669, EBI-373144; Nucleus envelope Endoplasmic reticulum Mitochondrion outer membrane Membrane ; Single-pass membrane protein Note=Colocalizes with SPATA18 at the mitochondrion outer membrane. Undergoes progressive proteolysis to an 11 kDa C-terminal fragment, which is blocked by the proteasome inhibitor lactacystin. Belongs to the NIP3 family. protein binding lamin binding nucleus nuclear envelope mitochondrion mitochondrial envelope mitochondrial outer membrane endoplasmic reticulum cytosol apoptotic process negative regulation of mitochondrial membrane potential membrane integral component of membrane positive regulation of macroautophagy nuclear speck mitochondrial protein catabolic process positive regulation of mitochondrial membrane permeability identical protein binding protein homodimerization activity positive regulation of apoptotic process negative regulation of apoptotic process protein heterodimerization activity defense response to virus negative regulation of cell death cellular response to hypoxia mitochondrial outer membrane permeabilization regulation of mitophagy regulation of protein targeting to mitochondrion uc007uks.1 uc007uks.2 uc007uks.3 uc007uks.4 
ENSMUST00000022638.6 Nefm ENSMUST00000022638.6 neurofilament, medium polypeptide (from RefSeq NM_008691.2) A0A0R4J036 A0A0R4J036_MOUSE ENSMUST00000022638.1 ENSMUST00000022638.2 ENSMUST00000022638.3 ENSMUST00000022638.4 ENSMUST00000022638.5 NM_008691 Nefm uc007ulo.1 uc007ulo.2 uc007ulo.3 Belongs to the intermediate filament family. structural molecule activity intermediate filament neurofilament neurofilament bundle assembly uc007ulo.1 uc007ulo.2 uc007ulo.3 
ENSMUST00000022639.8 Nefl ENSMUST00000022639.8 neurofilament, light polypeptide (from RefSeq NM_010910.2) ENSMUST00000022639.1 ENSMUST00000022639.2 ENSMUST00000022639.3 ENSMUST00000022639.4 ENSMUST00000022639.5 ENSMUST00000022639.6 ENSMUST00000022639.7 NFL_MOUSE NM_010910 Nf68 Nfl P08551 Q8K0Z0 uc007uln.1 uc007uln.2 uc007uln.3 uc007uln.4 Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (PubMed:22723690). Forms homodimers (in vitro) (By similarity). Forms heterodimers with NEFH or NEFM; which can further hetero-oligomerize (in vitro) (By similarity). Forms heterodimers with INA (in vitro) (By similarity). Interacts with ARHGEF28. Interacts with TRIM2. P08551; Q9ESN6: Trim2; NbExp=2; IntAct=EBI-445199, EBI-8315064; Cell projection, axon Cytoplasm, cytoskeleton Expressed in the sciatic nerve (at protein level). The extra mass and high charge density that distinguish the neurofilament proteins from all other intermediate filament proteins are due to the tailpiece extensions. This region may form a charged scaffolding structure suitable for interaction with other neuronal components or ions. O-glycosylated. Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization. Ubiquitinated in the presence of TRIM2 and UBE2D1. Reduced levels of Nefm, Nefh and Prph in the sciatic nerve and reduced numbers of neurofilaments in sciatic axons. NF-L is the most abundant of the three neurofilament proteins and, like the other nonepithelial intermediate filament proteins, it can form homomeric 10-nm filaments. Belongs to the intermediate filament family. microtubule cytoskeleton organization structural constituent of cytoskeleton protein binding cytoplasm intermediate filament neurofilament protein C-terminus binding anterograde axonal transport retrograde axonal transport response to toxic substance response to organic substance peripheral nervous system axon regeneration axonal transport of mitochondrion protein domain specific binding spinal cord development hippocampus development cerebral cortex development axon growth cone protein binding, bridging regulation of axon diameter neuromuscular junction neurofilament bundle assembly locomotion identical protein binding neuron projection myelin sheath phospholipase binding response to peptide hormone negative regulation of neuron apoptotic process intermediate filament polymerization or depolymerization intermediate filament organization intermediate filament bundle assembly protein heterodimerization activity neuron projection morphogenesis positive regulation of axonogenesis neuromuscular process controlling balance protein polymerization response to corticosterone neurofilament cytoskeleton organization synapse maturation axon development cholinergic synapse response to sodium arsenite response to acrylamide axon cytoplasm uc007uln.1 uc007uln.2 uc007uln.3 uc007uln.4 
ENSMUST00000022640.8 Adam7 ENSMUST00000022640.8 a disintegrin and metallopeptidase domain 7 (from RefSeq NM_007402.2) ADAM7_MOUSE Adam7 ENSMUST00000022640.1 ENSMUST00000022640.2 ENSMUST00000022640.3 ENSMUST00000022640.4 ENSMUST00000022640.5 ENSMUST00000022640.6 ENSMUST00000022640.7 F8VQC6 NM_007402 O35227 uc007ulr.1 uc007ulr.2 uc007ulr.3 This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is specifically expressed in epididymis where the encoded protein is transferred to the sperm surface during epididymal transit. This gene is located adjacent to a related gene from the ADAM family of proteins on chromosome 14. [provided by RefSeq, Oct 2015]. ##Evidence-Data-START## Transcript exon combination :: AK136692.1, AF013107.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849381 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Required for normal male fertility via maintenance of epithelial cell morphology in the caput epididymis and subsequently correct epididymis lumen structure required for sperm development (PubMed:26246218). Plays a role in sperm motility, flagella morphology and tyrosine phosphorylation during sperm capacitance (PubMed:26246218). Plays a role in normal expression levels of HSPA5, ITM2B and ADAM2 in sperm both prior to and post-capacitation (PubMed:26246218). This is a non catalytic metalloprotease-like protein (Probable). Interacts with ITM2B in sperm; the interaction increases following capacitation (PubMed:20945367). Interacts with HSPA5 and CANX (PubMed:20945367). Membrane ; Single- pass type I membrane protein Expressed in both the head and tails of sperm (at protein level) (PubMed:26246218, PubMed:20945367). Expressed in the epididymis (at protein level) (PubMed:26246218). Abundantly expressed in the apical region of the proximal caput epididymal epithelium, with decreasing expression in the mid and distal caput epididymal epithelium (PubMed:9322939). Induced by testis factors and androgens including testosterone. As a result of decreased egg fertilization male knockout mice produce a 15% reduced litter size whereas female knockout mice are unaffected (PubMed:26246218). No difference in male gross organ morphology (PubMed:26246218). Reduced epithelial cell heights in the caput regions of the epididymis, resulting in increased circumferences of the epididymal lumina (PubMed:26246218). Infrequent histological abnormalities can be found in the caput epididymis, such as sperm granulomas and mineralization-like features (PubMed:26246218). Increased frequency of intraepithelial vacuoles and hyperplasia found in the cauda epididymis (PubMed:26246218). Sperm obtained from the uterus of mated females show morphologically abnormal flagella with repeated bending and zigzag patterns (PubMed:26246218). Sperm incubated in vitro show reduced motility and abnormal flagella, additionally they show a reduction in overall levels of protein phosphotyrosine levels independent of capacitation state, resulting in an overall reduction in fertilization rate of 60% (PubMed:26246218). Decrease in protein levels of HSPA5 and ITM2B in both uncapacitated and capacitated sperm, and reduction in the levels of ADAM2 in capacitated sperm (PubMed:26246218). endopeptidase activity metalloendopeptidase activity plasma membrane proteolysis metallopeptidase activity membrane integral component of membrane apical part of cell uc007ulr.1 uc007ulr.2 uc007ulr.3 
ENSMUST00000022641.9 Adamdec1 ENSMUST00000022641.9 ADAM-like, decysin 1 (from RefSeq NM_021475.3) ADEC1_MOUSE ENSMUST00000022641.1 ENSMUST00000022641.2 ENSMUST00000022641.3 ENSMUST00000022641.4 ENSMUST00000022641.5 ENSMUST00000022641.6 ENSMUST00000022641.7 ENSMUST00000022641.8 NM_021475 Q9R0X2 uc007uls.1 uc007uls.2 uc007uls.3 May play an important role in the control of the immune response and during pregnancy. Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Secreted. Expressed highly in uterus during pregnancy. From the prepubertal period to day 5.5 of pregnancy is weakly expressed. From day 5.5 of pregnancy, an increase of expression is observed. At day 12.5 expression is higher. Induced by immunization in mature dendritic cells (DC), in marginal zone (MZ) metallophils, in follicular DC (FDC) and tingible body macrophages of germinal center. Down-regulated by steroid hormones and PRL. metalloendopeptidase activity cellular_component extracellular region proteolysis peptidase activity metallopeptidase activity hydrolase activity metal ion binding uc007uls.1 uc007uls.2 uc007uls.3 
ENSMUST00000022646.9 Nkx3-1 ENSMUST00000022646.9 NK3 homeobox 1 (from RefSeq NM_010921.3) ENSMUST00000022646.1 ENSMUST00000022646.2 ENSMUST00000022646.3 ENSMUST00000022646.4 ENSMUST00000022646.5 ENSMUST00000022646.6 ENSMUST00000022646.7 ENSMUST00000022646.8 NM_010921 Nkx3-1 Q3UVH8 Q3UVH8_MOUSE uc007umd.1 uc007umd.2 uc007umd.3 Nucleus transcription regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding positive regulation of protein phosphorylation DNA binding transcription factor activity, sequence-specific DNA binding RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding nucleus regulation of transcription, DNA-templated activation of cysteine-type endopeptidase activity involved in apoptotic process transcription factor binding positive regulation of cell proliferation negative regulation of cell proliferation cysteine-type endopeptidase activator activity involved in apoptotic process positive regulation of gene expression negative regulation of gene expression positive regulation of cell death positive regulation of phosphatidylinositol 3-kinase signaling estrogen receptor activity estrogen receptor binding androgen receptor signaling pathway regulation of protein localization cellular response to drug histone deacetylase binding positive regulation of cysteine-type endopeptidase activity involved in apoptotic process protein kinase B signaling sequence-specific DNA binding protein self-association transcription regulatory region DNA binding negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated negative regulation of mitotic cell cycle positive regulation of mitotic cell cycle positive regulation of transcription from RNA polymerase II promoter positive regulation of cell division cellular response to interleukin-1 cellular response to tumor necrosis factor cellular response to steroid hormone stimulus cellular response to hypoxia mitotic cell cycle arrest negative regulation of estrogen receptor binding positive regulation of androgen secretion positive regulation of response to DNA damage stimulus positive regulation of apoptotic signaling pathway positive regulation of intrinsic apoptotic signaling pathway uc007umd.1 uc007umd.2 uc007umd.3 
ENSMUST00000022650.9 Pibf1 ENSMUST00000022650.9 progesterone immunomodulatory binding factor 1, transcript variant 4 (from RefSeq NR_188874.1) E9Q6K3 E9Q6K3_MOUSE ENSMUST00000022650.1 ENSMUST00000022650.2 ENSMUST00000022650.3 ENSMUST00000022650.4 ENSMUST00000022650.5 ENSMUST00000022650.6 ENSMUST00000022650.7 ENSMUST00000022650.8 NR_188874 Pibf1 uc007uvc.1 uc007uvc.2 uc007uvc.3 uc007uvc.4 interleukin-4 receptor binding extracellular space nucleus centrosome microtubule organizing center mitotic metaphase plate congression negative regulation of prostaglandin biosynthetic process negative regulation of interleukin-12 production positive regulation of interleukin-10 production negative regulation of natural killer cell activation centriolar satellite positive regulation of tyrosine phosphorylation of STAT protein negative regulation of tyrosine phosphorylation of STAT protein activation of Janus kinase activity cilium assembly protein localization to centrosome mitotic spindle assembly non-motile cilium assembly uc007uvc.1 uc007uvc.2 uc007uvc.3 uc007uvc.4 
ENSMUST00000022656.8 Bora ENSMUST00000022656.8 bora, aurora kinase A activator, transcript variant 1 (from RefSeq NM_175265.6) BORA_MOUSE ENSMUST00000022656.1 ENSMUST00000022656.2 ENSMUST00000022656.3 ENSMUST00000022656.4 ENSMUST00000022656.5 ENSMUST00000022656.6 ENSMUST00000022656.7 NM_175265 Q3TJH7 Q3UWZ8 Q80WQ5 Q8BS90 Q8C8E9 uc007uuv.1 uc007uuv.2 uc007uuv.3 Required for the activation of AURKA at the onset of mitosis. Interacts with AURKA. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BS90-1; Sequence=Displayed; Name=2; IsoId=Q8BS90-2; Sequence=VSP_022496, VSP_022497; Phosphorylated by AURKA. Belongs to the BORA family. Sequence=BAC33015.1; Type=Frameshift; Evidence=; nucleus cytoplasm cell cycle regulation of mitotic nuclear division protein kinase binding activation of protein kinase activity regulation of protein localization cell division regulation of mitotic spindle organization meiotic spindle uc007uuv.1 uc007uuv.2 uc007uuv.3 
ENSMUST00000022660.14 Loxl2 ENSMUST00000022660.14 Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine) (By similarity). Acts as a transcription corepressor and specifically mediates deamination of trimethylated 'Lys-4' of histone H3 (H3K4me3), a specific tag for epigenetic transcriptional activation (By similarity). Shows no activity against histone H3 when it is trimethylated on 'Lys-9' (H3K9me3) or 'Lys-27' (H3K27me3) or when 'Lys-4' is monomethylated (H3K4me1) or dimethylated (H3K4me2) (By similarity). Also mediates deamination of methylated TAF10, a member of the transcription factor IID (TFIID) complex, which induces release of TAF10 from promoters, leading to inhibition of TFIID-dependent transcription (By similarity). LOXL2-mediated deamination of TAF10 results in transcriptional repression of genes required for embryonic stem cell pluripotency including POU5F1/OCT4, NANOG, KLF4 and SOX2 (PubMed:25959397). Involved in epithelial to mesenchymal transition (EMT) via interaction with SNAI1 and participates in repression of E-cadherin, probably by mediating deamination of histone H3 (By similarity). During EMT, involved with SNAI1 in negatively regulating pericentromeric heterochromatin transcription (By similarity). SNAI1 recruits LOXL2 to pericentromeric regions to oxidize histone H3 and repress transcription which leads to release of heterochromatin component CBX5/HP1A, enabling chromatin reorganization and acquisition of mesenchymal traits (By similarity). Interacts with the endoplasmic reticulum protein HSPA5 which activates the IRE1-XBP1 pathway of the unfolded protein response, leading to expression of several transcription factors involved in EMT and subsequent EMT induction (By similarity). When secreted into the extracellular matrix, promotes cross-linking of extracellular matrix proteins by mediating oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (By similarity). Acts as a regulator of sprouting angiogenesis, probably via collagen IV scaffolding (By similarity). Acts as a regulator of chondrocyte differentiation, probably by regulating expression of factors that control chondrocyte differentiation (PubMed:21071451). (from UniProt P58022) AK034957 ENSMUST00000022660.1 ENSMUST00000022660.10 ENSMUST00000022660.11 ENSMUST00000022660.12 ENSMUST00000022660.13 ENSMUST00000022660.2 ENSMUST00000022660.3 ENSMUST00000022660.4 ENSMUST00000022660.5 ENSMUST00000022660.6 ENSMUST00000022660.7 ENSMUST00000022660.8 ENSMUST00000022660.9 LOXL2_MOUSE P58022 Q8BRE6 Q8BS86 Q8C4K0 Q9JJ39 uc007umn.1 uc007umn.2 uc007umn.3 uc007umn.4 uc007umn.5 Mediates the post-translational oxidative deamination of lysine residues on target proteins leading to the formation of deaminated lysine (allysine) (By similarity). Acts as a transcription corepressor and specifically mediates deamination of trimethylated 'Lys-4' of histone H3 (H3K4me3), a specific tag for epigenetic transcriptional activation (By similarity). Shows no activity against histone H3 when it is trimethylated on 'Lys-9' (H3K9me3) or 'Lys-27' (H3K27me3) or when 'Lys-4' is monomethylated (H3K4me1) or dimethylated (H3K4me2) (By similarity). Also mediates deamination of methylated TAF10, a member of the transcription factor IID (TFIID) complex, which induces release of TAF10 from promoters, leading to inhibition of TFIID-dependent transcription (By similarity). LOXL2-mediated deamination of TAF10 results in transcriptional repression of genes required for embryonic stem cell pluripotency including POU5F1/OCT4, NANOG, KLF4 and SOX2 (PubMed:25959397). Involved in epithelial to mesenchymal transition (EMT) via interaction with SNAI1 and participates in repression of E-cadherin, probably by mediating deamination of histone H3 (By similarity). During EMT, involved with SNAI1 in negatively regulating pericentromeric heterochromatin transcription (By similarity). SNAI1 recruits LOXL2 to pericentromeric regions to oxidize histone H3 and repress transcription which leads to release of heterochromatin component CBX5/HP1A, enabling chromatin reorganization and acquisition of mesenchymal traits (By similarity). Interacts with the endoplasmic reticulum protein HSPA5 which activates the IRE1-XBP1 pathway of the unfolded protein response, leading to expression of several transcription factors involved in EMT and subsequent EMT induction (By similarity). When secreted into the extracellular matrix, promotes cross-linking of extracellular matrix proteins by mediating oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin (By similarity). Acts as a regulator of sprouting angiogenesis, probably via collagen IV scaffolding (By similarity). Acts as a regulator of chondrocyte differentiation, probably by regulating expression of factors that control chondrocyte differentiation (PubMed:21071451). Reaction=H2O + L-lysyl-[protein] + O2 = (S)-2-amino-6-oxohexanoyl- [protein] + H2O2 + NH4(+); Xref=Rhea:RHEA:24544, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:12448, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:16240, ChEBI:CHEBI:28938, ChEBI:CHEBI:29969, ChEBI:CHEBI:131803; EC=1.4.3.13; Evidence=; Name=Cu cation; Xref=ChEBI:CHEBI:23378; Evidence=; Name=lysine tyrosylquinone residue; Xref=ChEBI:CHEBI:20489; Evidence=; Note=Contains 1 lysine tyrosylquinone. Specifically inhibited by a mouse monoclonal antibody AB0023, inhibition occurs in a non-competitive manner. Component of some chromatin repressor complex. Interacts with SNAI1. Interacts with TAF10. Interacts with HSPA5. Interacts with EFEMP2 (By similarity). Secreted, extracellular space, extracellular matrix, basement membrane Nucleus Chromosome Endoplasmic reticulum Note=Associated with chromatin. It is unclear how LOXL2 is nuclear as it contains a signal sequence and has been shown to be secreted. However, a number of reports confirm its intracellular location and its key role in transcription regulation. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P58022-1; Sequence=Displayed; Name=2; IsoId=P58022-2; Sequence=VSP_016231, VSP_016232; Ubiquitous. Highest expression in skin, lung and thymus. Present in chondrocytes: mainly expressed by chondrocytes in healing fractures and in epiphyseal growth plates (at protein level). Strongly induced in hypoxia. The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine. N-glycosylated. N-glycosylation on Asn-458 and Asn-646 may be essential for proper folding and secretion; may be composed of a fucosylated carbohydrates attached to a trimannose N-linked glycan core. Belongs to the lysyl oxidase family. negative regulation of transcription from RNA polymerase II promoter chromatin response to hypoxia epithelial to mesenchymal transition endothelial cell proliferation sprouting angiogenesis protein-lysine 6-oxidase activity scavenger receptor activity copper ion binding calcium ion binding extracellular region basement membrane extracellular space nucleus nucleoplasm chromosome endoplasmic reticulum chromatin organization cellular protein modification process endocytosis positive regulation of epithelial to mesenchymal transition membrane oxidoreductase activity oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor peptidyl-lysine oxidation collagen fibril organization positive regulation of chondrocyte differentiation endothelial cell migration negative regulation of transcription, DNA-templated response to copper ion metal ion binding oxidation-reduction process oligosaccharide binding heterochromatin organization negative regulation of stem cell population maintenance uc007umn.1 uc007umn.2 uc007umn.3 uc007umn.4 uc007umn.5 
ENSMUST00000022663.7 Tnfrsf10b ENSMUST00000022663.7 tumor necrosis factor receptor superfamily, member 10b (from RefSeq NM_020275.4) Dr5 ENSMUST00000022663.1 ENSMUST00000022663.2 ENSMUST00000022663.3 ENSMUST00000022663.4 ENSMUST00000022663.5 ENSMUST00000022663.6 Killer NM_020275 Q6GSD9 Q9JJL5 Q9JJL6 Q9QZM4 TR10B_MOUSE uc007umv.1 uc007umv.2 uc007umv.3 Receptor for the cytotoxic ligand TNFSF10/TRAIL. The adapter molecule FADD recruits caspase-8 to the activated receptor. The resulting death-inducing signaling complex (DISC) performs caspase-8 proteolytic activation which initiates the subsequent cascade of caspases (aspartate-specific cysteine proteases) mediating apoptosis. Promotes the activation of NF-kappa-B. Essential for ER stress-induced apoptosis. Monomer. Can interact with TRADD and RIPK1. Three TNFRSF10B molecules interact with the TNFSF10 homotrimer. In the absence of stimulation, interacts with BIRC2, DDX3X and GSK3B. The interaction with BIRC2 and DDX3X is further enhanced upon receptor stimulation and accompanied by DDX3X and BIRC2 cleavage (By similarity). Membrane; Single-pass type I membrane protein. Highly expressed in heart, lung and kidney. TNFRSF10B is regulated by the tumor suppressor p53. (Microbial infection) Glycosylated at Arg-293 by S.typhimurium protein Ssek3. protease binding plasma membrane apoptotic process activation of cysteine-type endopeptidase activity involved in apoptotic process signal transduction transcription factor binding extrinsic apoptotic signaling pathway via death domain receptors cysteine-type endopeptidase activator activity involved in apoptotic process cell surface membrane integral component of membrane response to endoplasmic reticulum stress TRAIL-activated apoptotic signaling pathway regulation of apoptotic process positive regulation of apoptotic process TRAIL binding intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress extrinsic apoptotic signaling pathway uc007umv.1 uc007umv.2 uc007umv.3 
ENSMUST00000022665.4 Rhobtb2 ENSMUST00000022665.4 Rho-related BTB domain containing 2 (from RefSeq NM_153514.5) Dbc2 ENSMUST00000022665.1 ENSMUST00000022665.2 ENSMUST00000022665.3 NM_153514 Q8BYU3 Q8K1A8 Q91V93 RHBT2_MOUSE uc011znx.1 uc011znx.2 uc011znx.3 Interacts with HSP90AA1 and HSP90AB1. Interacts with CUL3. Expressed in most tissues, with highest expression in brain. Belongs to the small GTPase superfamily. Rho family. nucleotide binding GTPase activity protein binding GTP binding cytoplasm cell cortex actin filament organization small GTPase mediated signal transduction Rho protein signal transduction regulation of cell shape protein kinase binding regulation of cell migration establishment or maintenance of actin cytoskeleton polarity cell division site regulation of actin cytoskeleton organization intracellular membrane-bounded organelle actin filament bundle assembly plasma membrane uc011znx.1 uc011znx.2 uc011znx.3 
ENSMUST00000022666.9 Klhl1 ENSMUST00000022666.9 kelch-like 1 (from RefSeq NM_053105.3) ENSMUST00000022666.1 ENSMUST00000022666.2 ENSMUST00000022666.3 ENSMUST00000022666.4 ENSMUST00000022666.5 ENSMUST00000022666.6 ENSMUST00000022666.7 ENSMUST00000022666.8 KLHL1_MOUSE NM_053105 Q505E9 Q9JI74 uc007uuq.1 uc007uuq.2 uc007uuq.3 May play a role in organizing the actin cytoskeleton of the brain cells. Cytoplasm, cytoskeleton. Highly expressed in brain. actin binding cytoplasm cytoskeleton locomotory behavior adult walking behavior dendrite development cerebellar Purkinje cell layer development dendrite neuronal cell body uc007uuq.1 uc007uuq.2 uc007uuq.3 
ENSMUST00000022678.5 Pebp4 ENSMUST00000022678.5 phosphatidylethanolamine binding protein 4, transcript variant 1 (from RefSeq NM_028560.4) ENSMUST00000022678.1 ENSMUST00000022678.2 ENSMUST00000022678.3 ENSMUST00000022678.4 G3X8V3 NM_028560 PEBP4_MOUSE Q9D9G2 uc007una.1 uc007una.2 uc007una.3 uc007una.4 Promotes AKT phosphorylation, suggesting a possible role in the PI3K-AKT signaling pathway. Secreted Belongs to the phosphatidylethanolamine-binding protein family. lysosome biological_process uc007una.1 uc007una.2 uc007una.3 uc007una.4 
ENSMUST00000022680.9 Bin3 ENSMUST00000022680.9 bridging integrator 3, transcript variant 1 (from RefSeq NM_021328.4) BIN3_MOUSE ENSMUST00000022680.1 ENSMUST00000022680.2 ENSMUST00000022680.3 ENSMUST00000022680.4 ENSMUST00000022680.5 ENSMUST00000022680.6 ENSMUST00000022680.7 ENSMUST00000022680.8 NM_021328 Q9JI08 uc007une.1 uc007une.2 uc007une.3 Involved in cytokinesis and septation where it has a role in the localization of F-actin. Cytoplasm, cytoskeleton barrier septum assembly cytoplasm cytoskeleton endocytosis cell cycle cytoskeletal protein binding protein localization unidimensional cell growth regulation of lamellipodium assembly myoblast migration involved in skeletal muscle regeneration actin cortical patch skeletal muscle tissue regeneration skeletal muscle fiber development cell division actin cortical patch localization plasma membrane tubulation actin filament lipid binding uc007une.1 uc007une.2 uc007une.3 
ENSMUST00000022681.11 Pdlim2 ENSMUST00000022681.11 PDZ and LIM domain 2, transcript variant 1 (from RefSeq NM_145978.2) ENSMUST00000022681.1 ENSMUST00000022681.10 ENSMUST00000022681.2 ENSMUST00000022681.3 ENSMUST00000022681.4 ENSMUST00000022681.5 ENSMUST00000022681.6 ENSMUST00000022681.7 ENSMUST00000022681.8 ENSMUST00000022681.9 NM_145978 PDLI2_MOUSE Q8R1G6 uc007uni.1 uc007uni.2 uc007uni.3 Probable adapter protein located at the actin cytoskeleton that promotes cell attachment. Necessary for the migratory capacity of epithelial cells. Overexpression enhances cell adhesion to collagen and fibronectin and suppresses anchorage independent growth. May contribute to tumor cell migratory capacity (By similarity). Interacts with alpha-actinins ACTN1 and ACTN4, FLNA and MYH9 (By similarity). Interacts (via LIM zinc-binding domain) with MKRN2 (PubMed:28378844). Cytoplasm. Cytoplasm, cytoskeleton. Note=Localizes at the cytoskeleton. Colocalizes with beta-1 integrin (ITGB1) and alpha-actinin but not with paxillin (PXN) (By similarity). Event=Alternative splicing; Named isoforms=1; Comment=A number of isoforms are produced.; Name=1; IsoId=Q8R1G6-1; Sequence=Displayed; Highly expressed in lung. Expressed at intermediate level in kidney, testis and spleen. Weakly expressed in heart and brain. Regulated by IGF-1. stress fiber actin binding cytoplasm cytoskeleton cell-cell adherens junction heart development Z disc actin cytoskeleton organization cortical actin cytoskeleton filamin binding filamentous actin myosin heavy chain binding metal ion binding muscle alpha-actinin binding alpha-actinin binding muscle structure development uc007uni.1 uc007uni.2 uc007uni.3 
ENSMUST00000022682.6 Sorbs3 ENSMUST00000022682.6 sorbin and SH3 domain containing 3, transcript variant 1 (from RefSeq NM_011366.4) ENSMUST00000022682.1 ENSMUST00000022682.2 ENSMUST00000022682.3 ENSMUST00000022682.4 ENSMUST00000022682.5 NM_011366 Q62423 Q9R1Z8 Scam1 Sh3d4 VINEX_MOUSE uc007unl.1 uc007unl.2 uc007unl.3 Promotes up-regulation of actin stress fiber formation. Interacts with vinculin by the first two SH3 domains and the proline rich region of vinculin. Binds to SOS (guanine nucleotide exchange factor of RAS and RAC), through its third SH3 domain. The formation of this complex is down-regulated by phosphorylation of SOS. Interacts with SAFB2, INPPL1/SHIP2 and SRCIN1 (By similarity). Interacts with DLG5 through its third SH3 domain. Interacts with SOCS7 and MAPK1/ERK2. Interacts with FASLG (By similarity). Cell junction, focal adhesion. Cell junction. Cytoplasm, cytoskeleton. Note=Localized at focal adhesion sites, cell- cell junctions and cell-extracellular matrix junctions. Phosphorylated at Ser-594 by MAPK1/ERK2 during cell spreading. negative regulation of transcription from RNA polymerase II promoter nucleus cytoplasm cytoskeleton focal adhesion actin filament organization cell adhesion transcription factor binding vinculin binding cell junction cell-substrate adhesion positive regulation of MAPK cascade positive regulation of stress fiber assembly uc007unl.1 uc007unl.2 uc007unl.3 
ENSMUST00000022688.10 Slc39a14 ENSMUST00000022688.10 solute carrier family 39 (zinc transporter), member 14, transcript variant 1 (from RefSeq NM_001135151.1) A0A0R4J1V1 ENSMUST00000022688.1 ENSMUST00000022688.2 ENSMUST00000022688.3 ENSMUST00000022688.4 ENSMUST00000022688.5 ENSMUST00000022688.6 ENSMUST00000022688.7 ENSMUST00000022688.8 ENSMUST00000022688.9 Fad123 Kiaa0062 NM_001135151 Q75N73 Q80U85 Q8VDL0 S39AE_MOUSE Slc39a14 Zip14 uc007unu.1 uc007unu.2 uc007unu.3 Electroneutral transporter of the plasma membrane mediating the cellular uptake of the divalent metal cations zinc, manganese and iron that are important for tissue homeostasis, metabolism, development and immunity (PubMed:15863613, PubMed:16950869, PubMed:18270315, PubMed:19179618, PubMed:21653899, PubMed:28673968). Functions as an energy-dependent symporter, transporting through the membranes an electroneutral complex composed of a divalent metal cation and two bicarbonate anions (PubMed:18270315). Beside these endogenous cellular substrates, can also import cadmium a non-essential metal which is cytotoxic and carcinogenic (PubMed:18270315). Controls the cellular uptake by the intestinal epithelium of systemic zinc, which is in turn required to maintain tight junctions and the intestinal permeability (PubMed:25428902). Modifies the activity of zinc-dependent phosphodiesterases, thereby indirectly regulating G protein-coupled receptor signaling pathways important for gluconeogenesis and chondrocyte differentiation (PubMed:21445361). Regulates insulin receptor signaling, glucose uptake, glycogen synthesis and gluconeogenesis in hepatocytes through the zinc-dependent intracellular catabolism of insulin (PubMed:27703010). Through zinc cellular uptake also plays a role in the adaptation of cells to endoplasmic reticulum stress (PubMed:28673968). Major manganese transporter of the basolateral membrane of intestinal epithelial cells, it plays a central role in manganese systemic homeostasis through intestinal manganese uptake (PubMed:31028174). Also involved in manganese extracellular uptake by cells of the blood-brain barrier (By similarity). May also play a role in manganese and zinc homeostasis participating in their elimination from the blood through the hepatobiliary excretion (PubMed:28536273). Also functions in the extracellular uptake of free iron (PubMed:16950869, PubMed:19179618, PubMed:21653899, PubMed:23110240, PubMed:26028554). May also function intracellularly and mediate the transport from endosomes to cytosol of iron endocytosed by transferrin (PubMed:20682781). Plays a role in innate immunity by regulating the expression of cytokines by activated macrophages (By similarity). Reaction=2 hydrogencarbonate(out) + Zn(2+)(out) = 2 hydrogencarbonate(in) + Zn(2+)(in); Xref=Rhea:RHEA:62252, ChEBI:CHEBI:17544, ChEBI:CHEBI:29105; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:62253; Evidence= Reaction=2 hydrogencarbonate(out) + Mn(2+)(out) = 2 hydrogencarbonate(in) + Mn(2+)(in); Xref=Rhea:RHEA:62260, ChEBI:CHEBI:17544, ChEBI:CHEBI:29035; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:62261; Evidence=; Reaction=Fe(2+)(out) + 2 hydrogencarbonate(out) = Fe(2+)(in) + 2 hydrogencarbonate(in); Xref=Rhea:RHEA:62368, ChEBI:CHEBI:17544, ChEBI:CHEBI:29033; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:62369; Evidence=; Reaction=Cd(2+)(out) + 2 hydrogencarbonate(out) = Cd(2+)(in) + 2 hydrogencarbonate(in); Xref=Rhea:RHEA:62256, ChEBI:CHEBI:17544, ChEBI:CHEBI:48775; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:62257; Evidence=; Inhibited by cyanide and therefore dependent of an energy source (PubMed:18270315). Inhibited by DIDS/4,4'- diisothiocyanatostilbene-2,2'-disulfonic acid, an inhibitor hydrogencarbonate-dependent transporters (PubMed:18270315). pH dependence: Optimum pH is 7.5. ; Temperature dependence: Optimum temperature is 37 degrees Celsius. ; [Isoform 1]: Kinetic parameters: KM=0.14 mM for Cd(2+) ; KM=4.4 mM for Mn(2+) ; KM=2.3 uM for Fe(2+) ; KM=1.9 uM for Zn(2+) ; Vmax=25 pmol/min/mg enzyme for the transport of Cd(2+) ; Vmax=330 pmol/min/mg enzyme for the transport of Mn(2+) ; pH dependence: Optimum pH is 7.5. Temperature dependence: Optimum temperature is 37 degrees Celsius. ; [Isoform 2]: Kinetic parameters: KM=1.1 mM for Cd(2+) ; KM=18.2 mM for Mn(2+) ; Vmax=113 pmol/min/mg enzyme for the transport of Cd(2+) ; Vmax=1140 pmol/min/mg enzyme for the transport of Mn(2+) ; pH dependence: Optimum pH is 7.5 (PubMed:18270315). Optimum temperature is 37 degrees Celsius (PubMed:18270315). ; Homotrimer. Cell membrane ulti-pass membrane protein Apical cell membrane ; Multi-pass membrane protein Basolateral cell membrane ; Multi-pass membrane protein Early endosome membrane ; Multi-pass membrane protein Late endosome membrane ; Multi-pass membrane protein Lysosome membrane ; Multi-pass membrane protein Note=Localized at the basolateral membrane of enterocytes (PubMed:25428902, PubMed:28536273). Enriched at the plasma membrane upon glucose uptake (By similarity). Localized and functional at both apical and basolateral membranes of microvascular capillary endothelial cells that constitute the blood-brain barrier (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=ZIP14B ; IsoId=Q75N73-1; Sequence=Displayed; Name=2; Synonyms=ZIP14A ; IsoId=Q75N73-3; Sequence=VSP_060552; Widely expressed (PubMed:18270315). Highly and transiently expressed during the early stage of adipocyte differentiation. Strongly expressed in liver, preadipocyte, duodenum and jejunum, moderately in brain, heart, skeletal muscle, spleen, pancreas, kidney and white adipose cells. Expression is almost undetectable in lung, testis and brown adipose cells (PubMed:15794747, PubMed:15863613, PubMed:16950869, PubMed:17065364, PubMed:25428902). Expressed by chondrocytes and pituitary cells (PubMed:21445361). [Isoform 1]: More strongly expressed in brain. [Isoform 2]: More strongly expressed in liver, kidney and duodenum. In the KS483 cell model for osteoblast differentiation, expression levels peaks during the mineralization phase (days 18-21 of differentiation). Up-regulated during the lipopolysaccharide/LPS-induced inflammatory response (at protein level) (PubMed:16950869). Up- regulated by IL6 (PubMed:15863613, PubMed:16950869, PubMed:17065364). Up-regulated by interleukin-1/IL1 via nitric oxide (PubMed:19179618). Up-regulated upon endoplasmic reticulum stress induced by tunicamycin or high-fat diet (at protein level) (PubMed:28673968). Up-regulated into hepatocytes upon glucose uptake (at protein level) (PubMed:27703010). Up-regulated by iron in retina (at protein level) (PubMed:28057442). Ubiquitinated. Ubiquitination occurs upon iron depletion. The ubiquitinated form undergoes proteasomal degradation. N-glycosylated (PubMed:18270315, PubMed:21445361). N-glycosylation at Asn-100 is required for iron-regulated extraction of the transporter from membranes and subsequent proteasomal degradation (By similarity). Homozygous knockout mice exhibit growth retardation and dwarfism, visible even in neonates (PubMed:21445361). They exhibit moderate osteoporotic phenotypes associated with decreased bone volume and trabecular number, and increased trabecular separation (PubMed:21445361). The length of the long bones is also significantly reduced (PubMed:21445361). The decrease in bone mass is associated with increased bone resorption (PubMed:29632817). The metabolism of these mice is also affected and they constitute a model of metabolic endotoxemia with high body fat, hypoglycemia and hyperinsulinemia (PubMed:23110240, PubMed:27703010). The knockout of the gene also results in less effective blood manganese elimination and accumulation in the brain where it alters motor functions (PubMed:28536273). Knockout mice also display increased iron absorption and decreased lipopolysaccharide/LPS-induced IL-6 production (PubMed:23110240, PubMed:26028554). The permeability of the intestinal barrier is also compromised (PubMed:25428902). Conditional intestinal-specific knockout of the gene results in increased manganese levels in brain and liver while the liver-specific knockout reduces manganese levels only in liver (PubMed:31028174). Belongs to the ZIP transporter (TC 2.A.5) family. [Isoform 1]: Sequence=BAC65479.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence=; manganese ion transmembrane transporter activity zinc ion transmembrane transporter activity cytoplasm plasma membrane integral component of plasma membrane ion transport iron ion transport zinc II ion transport cellular zinc ion homeostasis ferrous iron transmembrane transporter activity membrane integral component of membrane metal ion transport lamellipodium iron ion transmembrane transport cell projection metal ion transmembrane transporter activity transmembrane transport manganese ion transmembrane transport zinc II ion transmembrane transport zinc II ion transmembrane import uc007unu.1 uc007unu.2 uc007unu.3 
ENSMUST00000022690.10 Fhip2b ENSMUST00000022690.10 FHF complex subunit HOOK interacting protein 2B (from RefSeq NM_194345.1) ENSMUST00000022690.1 ENSMUST00000022690.2 ENSMUST00000022690.3 ENSMUST00000022690.4 ENSMUST00000022690.5 ENSMUST00000022690.6 ENSMUST00000022690.7 ENSMUST00000022690.8 ENSMUST00000022690.9 FHI2B_MOUSE Fam160b2 Fhip2b NM_194345 Q6PED9 Q80YR2 Q8C1Y2 Rai16 uc007uol.1 uc007uol.2 uc007uol.3 uc007uol.4 Able to activate MAPK/ERK and TGFB signaling pathways (By similarity). May regulate the activity of genes involved in intestinal barrier function and immunoprotective inflammation (PubMed:31862898). May play a role in cell proliferation (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q80YR2-1; Sequence=Displayed; Name=2; IsoId=Q80YR2-2; Sequence=VSP_024588, VSP_024589; Expressed in colon. Mutants are viable, fertile with no apparent defects. Mice are more susceptibility to colitis induced by dextran sodium sulfate (DSS) than wild type littermates (PubMed:31862898). They display significantly increased tumor burden compared with WT mice assessed in colitis-associated colorectal cancer model induced by azoxymethane (AOM)-DSS (PubMed:31862898). Belongs to the FHIP family. Sequence=AAH50861.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=BAC41057.1; Type=Frameshift; Evidence=; molecular_function cellular_component biological_process uc007uol.1 uc007uol.2 uc007uol.3 uc007uol.4 
ENSMUST00000022691.14 Hr ENSMUST00000022691.14 lysine demethylase and nuclear receptor corepressor, transcript variant 2 (from RefSeq NM_021877.3) ENSMUST00000022691.1 ENSMUST00000022691.10 ENSMUST00000022691.11 ENSMUST00000022691.12 ENSMUST00000022691.13 ENSMUST00000022691.2 ENSMUST00000022691.3 ENSMUST00000022691.4 ENSMUST00000022691.5 ENSMUST00000022691.6 ENSMUST00000022691.7 ENSMUST00000022691.8 ENSMUST00000022691.9 HAIR_MOUSE NM_021877 Q61645 Q80Y47 uc007uoj.1 uc007uoj.2 uc007uoj.3 This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory ORF that exists upstream of the primary ORF. Mutations in this upstream ORF, U2HR, cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss in human. [provided by RefSeq, Oct 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC049182.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164132, SAMN01164136 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## regulatory uORF :: PMID: 19122663 ##RefSeq-Attributes-END## Histone demethylase that specifically demethylates both mono- and dimethylated 'Lys-9' of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle. Reaction=2 2-oxoglutarate + N(6),N(6)-dimethyl-L-lysyl(9)-[histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + L-lysyl(9)-[histone H3] + 2 succinate; Xref=Rhea:RHEA:60188, Rhea:RHEA-COMP:15541, Rhea:RHEA- COMP:15546, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:29969, ChEBI:CHEBI:30031, ChEBI:CHEBI:61976; EC=1.14.11.65; Evidence=; Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; Note=Binds 1 Fe(2+) ion per subunit. ; Nucleus. Expressed predominantly in brain, hair follicles and interfollicular epidermis. No expression in dermis. Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The LXXLL motifs are essential for the association with nuclear receptors (By similarity). The JmjC domain and the C6-type zinc-finger are required for the demethylation activity. Note=Defects in Hr are the cause of a number of pleiotropic effects including structural abnormalities of epithelial cells in the hair follicles, hair loss towards the end of the first hair growth cycle, and the failure of subsequent hair growth cycles. Older mice carrying a hr mutation have been reported to possess altered ratios of T-cell-dependent B-cell responses. Mice homozygous for hr mutation are uniquely sensitive to UV and chemically induced skin tumors. histone deacetylase complex chromatin transcription regulatory region sequence-specific DNA binding DNA binding transcription corepressor activity protein binding nucleus nucleoplasm oxidoreductase activity nuclear body chromatin DNA binding histone demethylase activity (H3-K9 specific) histone H3-K9 demethylation vitamin D receptor binding histone deacetylase binding negative regulation of sequence-specific DNA binding transcription factor activity negative regulation of transcription, DNA-templated metal ion binding thyroid hormone receptor binding protein heterooligomerization oxidation-reduction process uc007uoj.1 uc007uoj.2 uc007uoj.3 
ENSMUST00000022692.5 Sftpc ENSMUST00000022692.5 surfactant associated protein C (from RefSeq NM_011359.2) ENSMUST00000022692.1 ENSMUST00000022692.2 ENSMUST00000022692.3 ENSMUST00000022692.4 NM_011359 Q6P8P8 Q6P8P8_MOUSE Sftpc uc007uoe.1 uc007uoe.2 uc007uoe.3 uc007uoe.4 uc007uoe.5 Pulmonary surfactant associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. Secreted, extracellular space, surface film extracellular region respiratory gaseous exchange membrane integral component of membrane identical protein binding uc007uoe.1 uc007uoe.2 uc007uoe.3 uc007uoe.4 uc007uoe.5 
ENSMUST00000022693.9 Bmp1 ENSMUST00000022693.9 bone morphogenetic protein 1, transcript variant 1 (from RefSeq NM_009755.4) BMP1_MOUSE ENSMUST00000022693.1 ENSMUST00000022693.2 ENSMUST00000022693.3 ENSMUST00000022693.4 ENSMUST00000022693.5 ENSMUST00000022693.6 ENSMUST00000022693.7 ENSMUST00000022693.8 NM_009755 P98063 Q6NZM2 uc007uoc.1 uc007uoc.2 uc007uoc.3 uc007uoc.4 This gene encodes a metalloproteinase that plays an essential role in the formation of the extracellular matrix and is also able to induce ectopic bone formation. Unlike other bone morphogenetic proteins, the protein encoded by this gene is not closely related to transforming growth factor-beta. This protein plays in role several developmental processes. In humans, mutations in this gene are associated with osteogenesis imperfecta and with increased bone mineral density and multiple recurrent fractures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC066062.1, AK004995.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMN00849374, SAMN00849375 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Metalloprotease that plays key roles in regulating the formation of the extracellular matrix (ECM) via processing of various precursor proteins into mature functional enzymes or structural proteins. Thereby participates in several developmental and physiological processes such as cartilage and bone formation, muscle growth and homeostasis, wound healing and tissue repair (PubMed:24419319, PubMed:8951074, PubMed:28068493). Roles in ECM formation include cleavage of the C-terminal propeptides from procollagens such as procollagen I, II and III or the proteolytic activation of the enzyme lysyl oxidase LOX, necessary to formation of covalent cross-links in collagen and elastic fibers (PubMed:20181949). Additional substrates include matricellular thrombospondin-1/THBS1 whose cleavage leads to cell adhesion disruption and TGF-beta activation (By similarity). Reaction=Cleavage of the C-terminal propeptide at Ala-|-Asp in type I and II procollagens and at Arg-|-Asp in type III.; EC=3.4.24.19; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. Activity is increased by the procollagen C- endopeptidase enhancer protein. Interacts with POSTN, the interaction promotes deposition on the extracellular matrix. Golgi apparatus, trans-Golgi network Secreted, extracellular space, extracellular matrix Secreted Note=Co-localizes with POSTN in the Golgi. At high levels in embryonic maternal deciduum and floor plate region of the neural tube. Less in developing membranous and endochondral bone, submucosa of intestine, dermis of skin and the mesenchyme of spleen and lung. Deletion mice are perinatally lethal, with the most obvious gross abnormality being failure of ventral body wall closure, and persistent herniation of the gut. This phenotype likely reflects the defective and weakened nature of extracellular matrix (ECM) in these embryos (PubMed:8951074). Double knockout mice (BMP1 and TLL1) display progressive defects in teeth and bone development (PubMed:28068493, PubMed:24419319). Sequence=AAA37306.1; Type=Frameshift; Evidence=; ossification metalloendopeptidase activity cytokine activity calcium ion binding protein binding extracellular region extracellular space Golgi apparatus proteolysis signal transduction multicellular organism development growth factor activity peptidase activity metallopeptidase activity zinc ion binding hydrolase activity cell differentiation vesicle identical protein binding metal ion binding cartilage development positive regulation of cartilage development uc007uoc.1 uc007uoc.2 uc007uoc.3 uc007uoc.4 
ENSMUST00000022694.17 Dmtn ENSMUST00000022694.17 dematin actin binding protein, transcript variant 9 (from RefSeq NM_001360026.1) DEMA_MOUSE ENSMUST00000022694.1 ENSMUST00000022694.10 ENSMUST00000022694.11 ENSMUST00000022694.12 ENSMUST00000022694.13 ENSMUST00000022694.14 ENSMUST00000022694.15 ENSMUST00000022694.16 ENSMUST00000022694.2 ENSMUST00000022694.3 ENSMUST00000022694.4 ENSMUST00000022694.5 ENSMUST00000022694.6 ENSMUST00000022694.7 ENSMUST00000022694.8 ENSMUST00000022694.9 Epb4.9 Epb49 F8WIF9 NM_001360026 Q3TYC5 Q8JZV5 Q9WV69 Q9WVM2 uc057kta.1 uc057kta.2 uc057kta.3 Membrane-cytoskeleton-associated protein with F-actin-binding activity that induces F-actin bundles formation and stabilization. Its F-actin-bundling activity is reversibly regulated upon its phosphorylation by the cAMP-dependent protein kinase A (PKA). Binds to the erythrocyte membrane glucose transporter-1 SLC2A1/GLUT1, and hence stabilizes and attaches the spectrin-actin network to the erythrocytic plasma membrane. Plays a role in maintaining the functional integrity of PKA-activated erythrocyte shape and the membrane mechanical properties. Also plays a role as a modulator of actin dynamics in fibroblasts; acts as a negative regulator of the RhoA activation pathway. In platelets, functions as a regulator of internal calcium mobilization across the dense tubular system that affects platelet granule secretion pathways and aggregation. Also required for the formation of a diverse set of cell protrusions, such as filopodia and lamellipodia, necessary for platelet cell spreading, motility and migration. Acts as a tumor suppressor and inhibits malignant cell transformation. Monomeric (isoform 2); under reducing conditions. Self- associates. Exists under oxidizing condition as a trimer of two isoforms 2 and isoform 1 linked by disulfide bonds (Probable). Found in a complex with DMTN, F-actin and spectrin. Found in a complex with ADD2, DMTN and SLC2A1. Interacts with F-actin, ITPKB and spectrin. Isoform 2 interacts with SLC2A1 (via C-terminus cytoplasmic region) (By similarity). Interacts with RASGRF2. Cytoplasm Cytoplasm, cytosol Cytoplasm, perinuclear region Cytoplasm, cytoskeleton Cell membrane Membrane Endomembrane system Cell projection Note=Localized at the spectrin-actin junction of erythrocyte plasma membrane. Localized to intracellular membranes and the cytoskeletal network. Localized at intracellular membrane-bounded organelle compartment in platelets that likely represent the dense tubular network membrane (By similarity). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9WV69-1; Sequence=Displayed; Name=2; IsoId=Q9WV69-2; Sequence=VSP_047492; Name=3; IsoId=Q9WV69-3; Sequence=VSP_047491; Name=4; IsoId=Q9WV69-4; Sequence=VSP_047491, VSP_047492; Expressed in platelets. Isoform 1 and isoform 2 are expressed in mature erythrocytes (at protein level). Both the N-terminal core domain and the C-terminal headpiece domain are sufficient for binding to F-actin and necessary for actin bundling activity. Phosphorylated. Phosphorylation at Ser-403 by PKA causes the C- terminal headpiece domain to associate with the N-terminal core domain, and leads to the inhibition of its actin bundling activity (By similarity). Mice are viable and born at the expected Mendelian ratio. Adult mice show compensated anemia and display mild microcytosis and spherocytosis. The erythrocyte plasma membrane association with the spectrin-actin skeleton is fragile and mechanically unstable. Belongs to the villin/gelsolin family. actin binding receptor binding cytoplasm cytosol cytoskeleton actin filament plasma membrane cytoskeleton organization regulation of cell shape regulation of lamellipodium assembly positive regulation of fibroblast migration negative regulation of peptidyl-threonine phosphorylation negative regulation of cell-substrate adhesion endomembrane system postsynaptic density spectrin-associated cytoskeleton actin cytoskeleton membrane lamellipodium assembly actin cytoskeleton organization positive regulation of blood coagulation spectrin binding cortical cytoskeleton platelet dense tubular network membrane cell projection membrane cytoplasmic vesicle regulation of actin cytoskeleton organization negative regulation of peptidyl-serine phosphorylation calcium-mediated signaling using intracellular calcium source calcium-mediated signaling using extracellular calcium source cell projection protein self-association perinuclear region of cytoplasm erythrocyte development negative regulation of peptidyl-tyrosine phosphorylation actin filament binding actin filament bundle assembly regulation of filopodium assembly actin filament capping negative regulation of focal adhesion assembly macromolecular complex assembly protein secretion by platelet cellular response to calcium ion cellular response to cAMP positive regulation of wound healing negative regulation of protein targeting to membrane actin filament reorganization negative regulation of substrate adhesion-dependent cell spreading positive regulation of substrate adhesion-dependent cell spreading positive regulation of platelet aggregation positive regulation of integrin-mediated signaling pathway uc057kta.1 uc057kta.2 uc057kta.3 
ENSMUST00000022696.8 Xpo7 ENSMUST00000022696.8 exportin 7, transcript variant 2 (from RefSeq NM_023045.3) ENSMUST00000022696.1 ENSMUST00000022696.2 ENSMUST00000022696.3 ENSMUST00000022696.4 ENSMUST00000022696.5 ENSMUST00000022696.6 ENSMUST00000022696.7 Kiaa0745 NM_023045 Q3TP94 Q80TS9 Q8BSK5 Q8C9M7 Q8CB42 Q8CBL8 Q8CEF5 Q9EPK7 Ranbp16 XPO7_MOUSE uc033gsa.1 uc033gsa.2 uc033gsa.3 Mediates the nuclear export of proteins (cargos) with broad substrate specificity. In the nucleus binds cooperatively to its cargo and to the GTPase Ran in its active GTP-bound form. Docking of this trimeric complex to the nuclear pore complex (NPC) is mediated through binding to nucleoporins. Upon transit of a nuclear export complex into the cytoplasm, disassembling of the complex and hydrolysis of Ran-GTP to Ran-GDP (induced by RANBP1 and RANGAP1, respectively) cause release of the cargo from the export receptor. XPO7 then return to the nuclear compartment and mediate another round of transport. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus (By similarity). Binds to nucleoporins. Found in a complex with XPO7, EIF4A1, ARHGAP1, VPS26A, VPS29, VPS35 and SFN. Interacts with ARHGAP1 and SFN. Interacts with Ran and cargo proteins in a GTP-dependent manner (By similarity). Cytoplasm Nucleus Note=Shuttles between the nucleus and the cytoplasm. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9EPK7-1; Sequence=Displayed; Name=2; IsoId=Q9EPK7-2; Sequence=VSP_018600; Highly expressed in testis and spleen, moderate in kidney and liver and low in heart, brain, lung and skeletal muscle. Belongs to the exportin family. nuclear export signal receptor activity protein binding nucleus nuclear pore cytoplasm protein export from nucleus intracellular protein transport nucleocytoplasmic transport Ran GTPase binding protein transport mRNA transport nuclear transport uc033gsa.1 uc033gsa.2 uc033gsa.3 
ENSMUST00000022697.7 Fgf17 ENSMUST00000022697.7 fibroblast growth factor 17, transcript variant 1 (from RefSeq NM_008004.6) ENSMUST00000022697.1 ENSMUST00000022697.2 ENSMUST00000022697.3 ENSMUST00000022697.4 ENSMUST00000022697.5 ENSMUST00000022697.6 Fgf17 NM_008004 Q0VF19 Q0VF19_MOUSE uc007uos.1 uc007uos.2 uc007uos.3 Belongs to the heparin-binding growth factors family. fibroblast growth factor receptor binding type 1 fibroblast growth factor receptor binding type 2 fibroblast growth factor receptor binding extracellular region growth factor activity fibroblast growth factor receptor signaling pathway uc007uos.1 uc007uos.2 uc007uos.3 
ENSMUST00000022698.8 Dok2 ENSMUST00000022698.8 docking protein 2, transcript variant 1 (from RefSeq NM_010071.3) Dok2 ENSMUST00000022698.1 ENSMUST00000022698.2 ENSMUST00000022698.3 ENSMUST00000022698.4 ENSMUST00000022698.5 ENSMUST00000022698.6 ENSMUST00000022698.7 NM_010071 Q3TX09 Q3TX09_MOUSE uc007uoy.1 uc007uoy.2 uc007uoy.3 Belongs to the DOK family. Type A subfamily. uc007uoy.1 uc007uoy.2 uc007uoy.3 
ENSMUST00000022699.10 Gfra2 ENSMUST00000022699.10 glial cell line derived neurotrophic factor family receptor alpha 2, transcript variant 1 (from RefSeq NM_008115.3) ENSMUST00000022699.1 ENSMUST00000022699.2 ENSMUST00000022699.3 ENSMUST00000022699.4 ENSMUST00000022699.5 ENSMUST00000022699.6 ENSMUST00000022699.7 ENSMUST00000022699.8 ENSMUST00000022699.9 GFRA2_MOUSE Gdnfrb Gfra2 NM_008115 O08842 Q3UUD8 Q920Y3 Q9Z2A2 Q9Z2A3 Trnr2 uc007uoz.1 uc007uoz.2 uc007uoz.3 uc007uoz.4 The protein encoded by this gene is part of the receptor complex that transduces glial cell-derived neurotrophic factor and neurturin signals by mediating autophosphorylation and activation of the RET receptor. Mice lacking this protein are viable and fertile but display growth retardation attributed to impaired salivary and pancreatic secretion and innervation deficits in the intestinal tract. In addition, knockout mice display neural defects including a failure to initiate outgrowth of dorsal ganglion root neurons, demonstrating a requirement in neuronal differentiation of these cells. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]. Receptor for neurturin. Mediates the NRTN-induced autophosphorylation and activation of the RET receptor. Also able to mediate GDNF signaling through the RET tyrosine kinase receptor. [Isoform 2]: Participates in NRTN-induced 'Ser-727' phosphorylation of STAT3. Interacts with SORL1. Cell membrane ; Lipid-anchor, GPI-anchor Event=Alternative splicing; Named isoforms=3; Comment=Additional isoforms seem to exist. ; Name=1; Synonyms=Long, 2a IsoId=O08842-1; Sequence=Displayed; Name=2; Synonyms=Short, 2c IsoId=O08842-2; Sequence=VSP_001662; Name=3; Synonyms=2b IsoId=O08842-3; Sequence=VSP_057520; Neurons of the superior cervical and dorsal root ganglia, and adult brain and testis. Low level in the substantia nigra, spleen and adrenal gland (PubMed:9182803). Isoform 1, isoform 2 and isoform 3 are all expressed in brain, liver, ileum, spleen, heart and kidney (PubMed:9875703). In brain, isoform 1 is most abundant, isoform 2 slightly less and isoform 3 is lowest. No significant levels of isoform 1, isoform 2 or isoform 3 expression in testis (PubMed:12829325). Expressed at low level in the ventral mesencephalon at 14 dpc. Highly expressed in the developing dorsal root ganglia (PubMed:9182803). Isoform 1, isoform 2 and isoform 3 are all highly expressed in the late embryonic development (15 dpc and 17 dpc) (PubMed:12829325). Belongs to the GDNFR family. Sequence=AAC53548.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; Sequence=AAC82464.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; Sequence=AAC82465.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; Sequence=AAK97483.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; plasma membrane transmembrane receptor protein tyrosine kinase signaling pathway nervous system development external side of plasma membrane membrane glial cell-derived neurotrophic factor receptor activity anchored component of membrane negative regulation of protein autophosphorylation positive regulation of peptidyl-serine phosphorylation of STAT protein glial cell-derived neurotrophic factor receptor signaling pathway signaling receptor activity receptor complex regulation of peptidyl-serine phosphorylation of STAT protein uc007uoz.1 uc007uoz.2 uc007uoz.3 uc007uoz.4 
ENSMUST00000022701.7 Rb1 ENSMUST00000022701.7 RB transcriptional corepressor 1 (from RefSeq NM_009029.3) ENSMUST00000022701.1 ENSMUST00000022701.2 ENSMUST00000022701.3 ENSMUST00000022701.4 ENSMUST00000022701.5 ENSMUST00000022701.6 NM_009029 P13405 Q4VA62 RB_MOUSE Rb-1 uc007upp.1 uc007upp.2 uc007upp.3 uc007upp.4 Tumor suppressor that is a key regulator of the G1/S transition of the cell cycle (PubMed:8336704). The hypophosphorylated form binds transcription regulators of the E2F family, preventing transcription of E2F-responsive genes. Both physically blocks E2Fs transactivating domain and recruits chromatin-modifying enzymes that actively repress transcription. Cyclin and CDK-dependent phosphorylation of RB1 induces its dissociation from E2Fs, thereby activating transcription of E2F responsive genes and triggering entry into S phase. RB1 also promotes the G0-G1 transition upon phosphorylation and activation by CDK3/cyclin-C. Directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation (PubMed:15750587). Recruits and targets histone methyltransferases SUV39H1, KMT5B and KMT5C, leading to epigenetic transcriptional repression. Controls histone H4 'Lys-20' trimethylation (PubMed:16612004). Inhibits the intrinsic kinase activity of TAF1. Mediates transcriptional repression by SMARCA4/BRG1 by recruiting a histone deacetylase (HDAC) complex to the c-FOS promoter. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1- dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex (By similarity) (PubMed:15750587, PubMed:16612004, PubMed:8336704). The hypophosphorylated form interacts with and sequesters the E2F1 transcription factor. Interacts with heterodimeric E2F/DP transcription factor complexes containing TFDP1 and either E2F1/E2F, E2F3, E2F4 or E2F5, or TFDP2 and E2F4 (PubMed:8336704, PubMed:20940255). The unphosphorylated form interacts with EID1, ARID3B, KDM5A, SUV39H1, MJD2A/JHDM3A and THOC1. Interacts with the N- terminal domain of TAF1. Interacts with SNW1, ATAD5, AATF, DNMT1, LIN9, LMNA, KMT5B, KMT5C, PELP1, UHRF2, TMPO-alpha and USP4. May interact with NDC80. Interacts with GRIP1 and UBR4. Interacts with ARID4A and KDM5B. Interacts with E4F1 and LIMD1. Interacts with SMARCA4/BRG1 and HDAC1. Interacts with USP4. Interacts (when methylated at Lys-853) with L3MBTL1. Binds to CDK1 and CDK2. Interacts with CHEK2; phosphorylates RB1 (By similarity). Interacts with PRMT2. Interacts with CEBPA. P-TEFB complex interacts with RB1; promotes phosphorylation of RB1 (By similarity). Interacts with RBBP9; the interaction disrupts RB1 binding to E2F1 (By similarity). Interacts with KAT2B/PCAF and EP300/P300 (PubMed:20940255). Interacts with PAX5 (By similarity). (Microbial infection) Interacts with adenovirus E1a protein. (Microbial infection) Interacts with SV40 large T antigen. P13405; Q155P7: Cenpf; NbExp=4; IntAct=EBI-971782, EBI-2211248; P13405; Q80UP3: Dgkz; NbExp=2; IntAct=EBI-971782, EBI-971774; P13405; P17679: Gata1; NbExp=3; IntAct=EBI-971782, EBI-3903251; P13405; Q9R002: Ifi202; NbExp=7; IntAct=EBI-971782, EBI-3043899; P13405; P24610: Pax3; NbExp=3; IntAct=EBI-971782, EBI-1208116; P13405; P52946: Pdx1; NbExp=2; IntAct=EBI-971782, EBI-7128945; P13405; Q3TKT4: Smarca4; NbExp=3; IntAct=EBI-971782, EBI-1210244; P13405; Q61412: Vsx2; NbExp=2; IntAct=EBI-971782, EBI-1208174; P13405; P15976: GATA1; Xeno; NbExp=2; IntAct=EBI-971782, EBI-3909284; Nucleus Note=During keratinocyte differentiation, acetylation by KAT2B/PCAF is required for nuclear localization. Expressed in the cell nuclei of renal tubules, hepatocytes and skeletal muscles. Expressed in skin (at protein level) (PubMed:20940255). Phosphorylated (PubMed:8336704). Phosphorylated by CDK6 and CDK4, and subsequently by CDK2 at Ser-561 in G1, thereby releasing E2F1 which is then able to activate cell growth. Dephosphorylated at the late M phase. Phosphorylation of threonine residues in domain C promotes interaction between the C-terminal domain C and the Pocket domain, and thereby inhibits interactions with heterodimeric E2F/DP transcription factor complexes. Dephosphorylated at Ser-788 by calcineruin upon calcium stimulation. CDK3/cyclin-C-mediated phosphorylation at Ser-800 and Ser-804 is required for G0-G1 transition (By similarity). Phosphorylated by CDK1 and CDK2 upon TGFB1-mediated apoptosis (By similarity). Monomethylation at Lys-803 by SMYD2 enhances phosphorylation at Ser-800 and Ser-804, and promotes cell cycle progression. Monomethylation at Lys-853 by SMYD2 promotes interaction with L3MBTL1 (By similarity). N-terminus is methylated by METTL11A/NTM1. Acetylated in the skin (PubMed:20940255). Acetylation at Lys-866 and Lys-867 regulates subcellular localization during keratinocytes differentiation (By similarity). Belongs to the retinoblastoma protein (RB) family. Name=Wikipedia; Note=Retinoblastoma protein entry; URL="https://en.wikipedia.org/wiki/Retinoblastoma_protein"; G1/S transition of mitotic cell cycle negative regulation of transcription from RNA polymerase II promoter chromatin core promoter proximal region sequence-specific DNA binding RNA polymerase II regulatory region DNA binding RNA polymerase II activating transcription factor binding regulation of cell growth tissue homeostasis aortic valve morphogenesis DNA binding protein binding nucleus nucleoplasm transcription factor complex spindle chromatin organization regulation of transcription from RNA polymerase II promoter negative regulation of protein kinase activity apoptotic process cell cycle cell cycle arrest Ras protein signal transduction regulation of mitotic cell cycle cyclin/CDK positive transcription elongation factor complex transcription factor binding negative regulation of cell proliferation negative regulation of gene expression PML body enzyme binding kinase binding cell differentiation neuron differentiation sister chromatid biorientation neuron projection development ubiquitin protein ligase binding maintenance of mitotic sister chromatid cohesion glial cell apoptotic process Rb-E2F complex skeletal muscle cell differentiation neuron maturation identical protein binding enucleate erythrocyte differentiation regulation of lipid kinase activity myoblast differentiation positive regulation of macrophage differentiation negative regulation of cell cycle positive regulation of mitotic metaphase/anaphase transition negative regulation of smoothened signaling pathway negative regulation of transcription, DNA-templated negative regulation of mitotic cell cycle positive regulation of transcription from RNA polymerase II promoter digestive tract development cell morphogenesis involved in neuron differentiation negative regulation of epithelial cell proliferation negative regulation of inflammatory response striated muscle cell differentiation phosphoprotein binding cell division neuron apoptotic process regulation of cell cycle importin-alpha family protein binding protein localization to chromosome, centromeric region cellular response to xenobiotic stimulus negative regulation of protein serine/threonine kinase activity regulation of cohesin loading negative regulation of transcription involved in G1/S transition of mitotic cell cycle hepatocyte apoptotic process disordered domain specific binding negative regulation of tau-protein kinase activity positive regulation of extracellular matrix organization negative regulation of hepatocyte apoptotic process positive regulation of collagen fibril organization negative regulation of myofibroblast differentiation negative regulation of G1/S transition of mitotic cell cycle positive regulation of transcription regulatory region DNA binding negative regulation of apoptotic signaling pathway uc007upp.1 uc007upp.2 uc007upp.3 uc007upp.4 
ENSMUST00000022704.9 Itm2b ENSMUST00000022704.9 integral membrane protein 2B (from RefSeq NM_008410.3) ENSMUST00000022704.1 ENSMUST00000022704.2 ENSMUST00000022704.3 ENSMUST00000022704.4 ENSMUST00000022704.5 ENSMUST00000022704.6 ENSMUST00000022704.7 ENSMUST00000022704.8 ITM2B_MOUSE NM_008410 O89051 Q545S7 uc007upt.1 uc007upt.2 uc007upt.3 uc007upt.4 Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites (By similarity). Mature BRI2 (mBRI2) functions as a modulator of the amyloid- beta A4 precursor protein (APP) processing leading to a strong reduction in the secretion of secretase-processed amyloid-beta protein 40 and amyloid-beta protein 42. Bri23 peptide prevents aggregation of APP amyloid-beta protein 42 into toxic oligomers. Homodimer; disulfide-linked. Interacts with SPPL2A and SPPL2B. Interacts with APP. Mature BRI2 (mBRI2) interacts with the APP amyloid- beta A4 protein; the interaction occurs at the cell surface and in the endocytic compartments and enable alpha- and beta-secretase-induced APP cleavage inhibition. Mature BRI2 (mBRI2) interacts with the APP C99; the interaction occurs in the endocytic compartments and enable gamma- secretase-induced C99 cleavage inhibition. May form heterodimers with Bri23 peptide and APP amyloid-beta protein 40 (By similarity). Interacts with ADAM7 in sperm; the interaction increases following capacitation (PubMed:20945367). [Integral membrane protein 2B]: Golgi apparatus membrane ; Single-pass type II membrane protein Note=Immature BRI2 (imBRI2) is cleaved by furin in the Golgi into mBRI2 and a Bri23 peptide. mBRI2 is transported to the plasma membrane and Bri23 peptide is secreted. [BRI2, membrane form]: Cell membrane ; Single-pass type II membrane protein Endosome membrane ; Single-pass type II membrane protein Note=Mature BRI2 (mBRI2) needs to be transported from the endoplasmic reticulum compartment to the cell membrane in order to be able to inhibit APP processing. [Bri23 peptide]: Secreted Note=Detected in the cerebral spinal fluid (CSF). [BRI2C, soluble form]: Secreted Expressed in the brain, testis, testicular sperm, epididymis and mature epididymal sperm (at protein level). The ectodomain C-terminal part of the imBRI2 is processed by furin producing a secreted Bri23 peptide and a mature BRI2, membrane form (mBRI2). The remaining part of the ectodomain of mBRI2 containing the BRICHOS domain is cleaved by ADAM10 and is secreted (BRI2C, soluble form). The membrane-bound N-terminal fragment (BRI2C, membrane form) is further proteolytically processed by SPPL2A and SPPL2B through regulated intramembrane proteolysis producing a secreted C-peptide and a BRI2 intracellular domain (BRI2 ICD) released in the cytosol. Shedding by ADAM10 facilitates intramembrane cleavage but is not absolutely required for BRI2 ICD generation (By similarity). Glycosylation at Asn-170 is important for cell surface localization, but doesn't affect furin- and ADAM10-induced proteolytic processing. Belongs to the ITM2 family. Golgi membrane beta-amyloid binding ATP binding extracellular region extracellular space endosome Golgi apparatus plasma membrane endosome membrane membrane integral component of membrane Golgi-associated vesicle membrane integral component of organelle membrane negative regulation of amyloid precursor protein biosynthetic process intracellular membrane-bounded organelle uc007upt.1 uc007upt.2 uc007upt.3 uc007upt.4 
ENSMUST00000022705.7 Med4 ENSMUST00000022705.7 mediator complex subunit 4 (from RefSeq NM_026119.3) ENSMUST00000022705.1 ENSMUST00000022705.2 ENSMUST00000022705.3 ENSMUST00000022705.4 ENSMUST00000022705.5 ENSMUST00000022705.6 MED4_MOUSE NM_026119 Q3UL96 Q8BVG6 Q9CQA5 Vdrip uc007upu.1 uc007upu.2 uc007upu.3 Component of the Mediator complex, a coactivator involved in the regulated transcription of nearly all RNA polymerase II-dependent genes. Mediator functions as a bridge to convey information from gene- specific regulatory proteins to the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters by direct interactions with regulatory proteins and serves as a scaffold for the assembly of a functional preinitiation complex with RNA polymerase II and the general transcription factors (By similarity). Component of the Mediator complex, which is composed of MED1, MED4, MED6, MED7, MED8, MED9, MED10, MED11, MED12, MED13, MED13L, MED14, MED15, MED16, MED17, MED18, MED19, MED20, MED21, MED22, MED23, MED24, MED25, MED26, MED27, MED29, MED30, MED31, CCNC, CDK8 and CDC2L6/CDK11. The MED12, MED13, CCNC and CDK8 subunits form a distinct module termed the CDK8 module. Mediator containing the CDK8 module is less active than Mediator lacking this module in supporting transcriptional activation. Individual preparations of the Mediator complex lacking one or more distinct subunits have been variously termed ARC, CRSP, DRIP, PC2, SMCC and TRAP (By similarity). Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9CQA5-1; Sequence=Displayed; Name=2; IsoId=Q9CQA5-2; Sequence=VSP_027918, VSP_027919; Belongs to the Mediator complex subunit 4 family. Sequence=BAE26554.1; Type=Erroneous initiation; Evidence=; transcription cofactor activity nucleus nucleoplasm regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter transcription initiation from RNA polymerase II promoter mediator complex positive regulation of transcription, DNA-templated thyroid hormone receptor binding core mediator complex uc007upu.1 uc007upu.2 uc007upu.3 
ENSMUST00000022707.7 Gpc5 ENSMUST00000022707.7 glypican 5 (from RefSeq NM_175500.4) ENSMUST00000022707.1 ENSMUST00000022707.2 ENSMUST00000022707.3 ENSMUST00000022707.4 ENSMUST00000022707.5 ENSMUST00000022707.6 GPC5_MOUSE NM_175500 Q14BN1 Q8CAL5 uc007uyi.1 uc007uyi.2 uc007uyi.3 uc007uyi.4 Cell surface proteoglycan that bears heparan sulfate. Cell membrane ; Lipid-anchor, GPI- anchor ; Extracellular side [Secreted glypican-5]: Secreted, extracellular space Belongs to the glypican family. extracellular region extracellular space Golgi lumen plasma membrane integral component of plasma membrane regulation of signal transduction cell surface membrane cell migration anchored component of membrane anchored component of plasma membrane positive regulation of canonical Wnt signaling pathway regulation of protein localization to membrane uc007uyi.1 uc007uyi.2 uc007uyi.3 uc007uyi.4 
ENSMUST00000022708.7 Trim52 ENSMUST00000022708.7 tripartite motif-containing 52, transcript variant 1 (from RefSeq NM_198601.3) ENSMUST00000022708.1 ENSMUST00000022708.2 ENSMUST00000022708.3 ENSMUST00000022708.4 ENSMUST00000022708.5 ENSMUST00000022708.6 NM_198601 Q8CDV4 Q8CDV4_MOUSE Trim52 uc007uxz.1 uc007uxz.2 uc007uxz.3 molecular_function biological_process nuclear body uc007uxz.1 uc007uxz.2 uc007uxz.3 
ENSMUST00000022709.6 Spry2 ENSMUST00000022709.6 sprouty RTK signaling antagonist 2, transcript variant 1 (from RefSeq NM_011897.4) ENSMUST00000022709.1 ENSMUST00000022709.2 ENSMUST00000022709.3 ENSMUST00000022709.4 ENSMUST00000022709.5 NM_011897 Q9QXV8 Q9WUQ9 SPY2_MOUSE uc007uxy.1 uc007uxy.2 uc007uxy.3 Antagonist of fibroblast growth factor (FGF) pathways via inhibition of FGF-mediated phosphorylation of ERK1/2 (PubMed:29501879). Thereby acts as an antagonist of FGF-induced retinal lens fiber differentiation, may inhibit limb bud outgrowth and may negatively modulate respiratory organogenesis (PubMed:10498682, PubMed:10074434, PubMed:29501879). Inhibits TGFB-induced epithelial-to-mesenchymal transition in retinal lens epithelial cells (PubMed:25576668). Inhibits CBL/C-CBL-mediated EGFR ubiquitination (By similarity). Forms heterodimers with SPRY1 (PubMed:16877379). Forms a tripartite complex containing GAB1, METTL13 and SPRY2 (By similarity). Within the complex interacts with METTL13 (By similarity). Interacts with RAF1 (By similarity). Interacts (via C-terminus) with TESK1 (via C-terminus); the interaction disrupts SPRY2 interaction with GRB2, potentially via disruption of SPRY2 serine dephosphorylation (PubMed:17974561). Interacts with PPP2R1A/PP2A-A and PPP2CA/PP2A-C; the interaction with PPP2CA/PP2A-C is inhibited by interaction with TESK1, possibly by vesicular sequestration of SPRY2 (By similarity). Inhibition of the interaction with the serine/threonine-protein phosphatase 2A (PP2A) holoenzyme results in loss of PP2A-mediated dephosphorylation, resulting in the loss of SPRY2 interaction with GRB2 (By similarity). Interacts with GRB2 (By similarity). Interacts with CBL/C-CBL; the interaction inhibits CBL-mediated ubiquitination of EGFR (By similarity). Interacts (via C-terminus) with CAV1 (via C-terminus) (PubMed:16877379). Cytoplasm, cytoskeleton Cell projection, ruffle membrane Note=Associated with microtubules in unstimulated cells but is translocated to the membrane ruffles in cells stimulated with EGF (epidermal growth factor). Expressed in the testes and brain (at protein level) (PubMed:17974561, PubMed:10074434). In adult, highly expressed in the lung, heart and at lower levels in skeletal muscle and kidney (PubMed:10074434). At 8.5 dpc, expressed in the primitive streak, rostral forebrain, cells lateral to the posterior hindbrain, anterior hindbrain and developing midbrain. At 9.5 dpc, continues to be expressed in the rostral forebrain and primitive streak, and is also detected in the branchial arches and the forelimb bud. At 10.5 dpc, expressed in the somites, frontonasal processes, tailbud, and hindlimb bud (PubMed:10498682). Highly expressed in lung epithelial cells, primarily in the distal airways at 12 dpc (PubMed:10074434). The Cys-rich domain is responsible for the localization of the protein to the membrane ruffles. Cleaved at Pro-143 by the prolyl endopeptidase FAP (seprase) activity (in vitro). Belongs to the sprouty family. establishment of mitotic spindle orientation protein binding nucleus cytoplasm cytosol cytoskeleton microtubule plasma membrane multicellular organism development sensory perception of sound negative regulation of cell proliferation regulation of signal transduction positive regulation of gene expression negative regulation of peptidyl-threonine phosphorylation microtubule cytoskeleton membrane negative regulation of angiogenesis protein kinase binding lung development positive regulation of cell migration negative regulation of cell projection organization ruffle membrane positive regulation of peptidyl-serine phosphorylation negative regulation of GTPase activity cellular response to vascular endothelial growth factor stimulus negative regulation of fibroblast growth factor receptor signaling pathway regulation of cell proliferation inner ear morphogenesis cell projection negative regulation of apoptotic process negative regulation of MAP kinase activity protein serine/threonine kinase activator activity cell fate commitment regulation of cell differentiation negative regulation of Ras protein signal transduction branching morphogenesis of an epithelial tube negative regulation of neurotrophin TRK receptor signaling pathway positive regulation of protein kinase B signaling lung morphogenesis lung growth bud elongation involved in lung branching respiratory system development negative regulation of ERK1 and ERK2 cascade positive regulation of ERK1 and ERK2 cascade positive regulation of protein serine/threonine kinase activity negative regulation of vascular endothelial growth factor signaling pathway cellular response to leukemia inhibitory factor uc007uxy.1 uc007uxy.2 uc007uxy.3 
ENSMUST00000022715.14 Rbm26 ENSMUST00000022715.14 RNA binding motif protein 26, transcript variant 5 (from RefSeq NR_166779.1) ENSMUST00000022715.1 ENSMUST00000022715.10 ENSMUST00000022715.11 ENSMUST00000022715.12 ENSMUST00000022715.13 ENSMUST00000022715.2 ENSMUST00000022715.3 ENSMUST00000022715.4 ENSMUST00000022715.5 ENSMUST00000022715.6 ENSMUST00000022715.7 ENSMUST00000022715.8 ENSMUST00000022715.9 NR_166779 Q3TA77 Q3UTU9 Q6NZN0 Q8BQ22 Q8C7W9 Q8K101 Q921K4 RBM26_MOUSE Rbm26 uc007uxn.1 uc007uxn.2 uc007uxn.3 May be involved in the turnover of nuclear polyadenylated (pA+) RNA. Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q6NZN0-1; Sequence=Displayed; Name=2; IsoId=Q6NZN0-2; Sequence=VSP_022535; Name=3; IsoId=Q6NZN0-3; Sequence=VSP_022533, VSP_022535; Name=4; IsoId=Q6NZN0-4; Sequence=VSP_022533; Name=5; IsoId=Q6NZN0-5; Sequence=VSP_022534; Expressed in testis and ovary. Expressed in testis and ovary at 15.5 dpc. Sequence=AAH29079.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAC33537.1; Type=Frameshift; Evidence=; Sequence=BAC34721.1; Type=Frameshift; Evidence=; Sequence=BAE23881.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=BAE42792.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=BC066051; Type=Frameshift; Evidence=; nucleic acid binding RNA binding mRNA binding nucleus mRNA processing negative regulation of phosphatase activity positive regulation of RNA export from nucleus metal ion binding uc007uxn.1 uc007uxn.2 uc007uxn.3 
ENSMUST00000022716.4 Obi1 ENSMUST00000022716.4 ORC ubiquitin ligase 1 (from RefSeq NM_026047.4) ENSMUST00000022716.1 ENSMUST00000022716.2 ENSMUST00000022716.3 G3X8V5 G3X8V5_MOUSE NM_026047 Obi1 Rnf219 uc007uxc.1 uc007uxc.2 uc007uxc.3 chromatin chromatin binding ubiquitin-protein transferase activity regulation of DNA replication protein monoubiquitination protein autoubiquitination uc007uxc.1 uc007uxc.2 uc007uxc.3 
ENSMUST00000022718.11 Ednrb ENSMUST00000022718.11 endothelin receptor type B, transcript variant 4 (from RefSeq NM_001422171.1) EDNRB_MOUSE ENSMUST00000022718.1 ENSMUST00000022718.10 ENSMUST00000022718.2 ENSMUST00000022718.3 ENSMUST00000022718.4 ENSMUST00000022718.5 ENSMUST00000022718.6 ENSMUST00000022718.7 ENSMUST00000022718.8 ENSMUST00000022718.9 Ednrb NM_001422171 P48302 Q542M3 uc007uwx.1 uc007uwx.2 uc007uwx.3 uc007uwx.4 uc007uwx.5 Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. Essential component in the normal development of two neuronal crest-derived cell lineages. Cell membrane ; Multi-pass membrane protein. Note=internalized after activation by endothelins. Belongs to the G-protein coupled receptor 1 family. Endothelin receptor subfamily. EDNRB sub-subfamily. negative regulation of transcription from RNA polymerase II promoter neural crest cell migration positive regulation of protein phosphorylation G-protein coupled receptor activity endothelin receptor activity protein binding plasma membrane regulation of pH signal transduction G-protein coupled receptor signaling pathway phospholipase C-activating G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration peripheral nervous system development posterior midgut development aging regulation of blood pressure positive regulation of cell proliferation negative regulation of neuron maturation response to organic cyclic compound vein smooth muscle contraction membrane integral component of membrane peptide hormone binding sensory perception of pain calcium-mediated signaling cGMP-mediated signaling melanocyte differentiation regulation of fever generation type 1 angiotensin receptor binding nuclear membrane negative regulation of cellular protein metabolic process response to lipopolysaccharide enteric smooth muscle cell differentiation positive regulation of urine volume positive regulation of renal sodium excretion epithelial fluid transport vasoconstriction vasodilation negative regulation of apoptotic process pigmentation membrane raft developmental pigmentation macrophage chemotaxis response to pain enteric nervous system development regulation of epithelial cell proliferation regulation of sensory perception of pain positive regulation of penile erection cellular response to lipopolysaccharide endothelin receptor signaling pathway response to endothelin uc007uwx.1 uc007uwx.2 uc007uwx.3 uc007uwx.4 uc007uwx.5 
ENSMUST00000022720.15 Fbxl3 ENSMUST00000022720.15 F-box and leucine-rich repeat protein 3, transcript variant 1 (from RefSeq NM_015822.4) Afh ENSMUST00000022720.1 ENSMUST00000022720.10 ENSMUST00000022720.11 ENSMUST00000022720.12 ENSMUST00000022720.13 ENSMUST00000022720.14 ENSMUST00000022720.2 ENSMUST00000022720.3 ENSMUST00000022720.4 ENSMUST00000022720.5 ENSMUST00000022720.6 ENSMUST00000022720.7 ENSMUST00000022720.8 ENSMUST00000022720.9 FBXL3_MOUSE Fbl3a Fbxl3a NM_015822 Ovtm Q80V32 Q8C4V4 Q8K1W0 Q9QXW1 uc007uwj.1 uc007uwj.2 uc007uwj.3 Substrate-recognition component of the SCF(FBXL3) E3 ubiquitin ligase complex involved in circadian rhythm function. Plays a key role in the maintenance of both the speed and the robustness of the circadian clock oscillation. The SCF(FBXL3) complex mainly acts in the nucleus and mediates ubiquitination and subsequent degradation of CRY1 and CRY2. Activity of the SCF(FBXL3) complex is counteracted by the SCF(FBXL21) complex. Protein modification; protein ubiquitination. Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXL3) composed of CUL1, SKP1, RBX1 and FBXL3. Interacts with HDAC3 (PubMed:26776516). Interacts with CRY1 and CRY2 (phosphorylated) (PubMed:23452856, PubMed:30500822). Interacts with KDM8 (PubMed:30500822). Q8C4V4; P97784: Cry1; NbExp=12; IntAct=EBI-1266589, EBI-1266607; Q8C4V4; Q9R194: Cry2; NbExp=6; IntAct=EBI-1266589, EBI-1266619; Q8C4V4; O54943: Per2; NbExp=2; IntAct=EBI-1266589, EBI-1266779; Q8C4V4; Q13616: CUL1; Xeno; NbExp=3; IntAct=EBI-1266589, EBI-359390; Q8C4V4; P63208: SKP1; Xeno; NbExp=3; IntAct=EBI-1266589, EBI-307486; Nucleus Cytoplasm. Note=Predominantly nuclear. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8C4V4-1; Sequence=Displayed; Name=2; IsoId=Q8C4V4-2; Sequence=VSP_008414; Ubiquitously expressed but enriched in brain. Diffusely expressed in the suprachiasmatic nucleus, SCN. Undergoes autophagy-mediated degradation in the liver in a time- dependent manner. Mice show defects in behavioral rhythms with an extremely long-period activity phenotype. The onset of active phase is abnormally delayed from the light-to-dark transition: in constant darkness (DD), mice show significantly longer rhythmic activities. Mice lacking both Fbxl3 and Fbxl21 show an attenuated phenotype in behavioral rhythm compared to Fbxl3-deficient mice; however, they exhibit unstable behavioral rhythms, sometimes eliciting arrhythmicity. Sequence=AAF09131.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=AAH46330.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=AAM92567.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; G2/M transition of mitotic cell cycle ubiquitin-protein transferase activity protein binding nucleus nucleoplasm cytoplasm cytosol protein ubiquitination nuclear body SCF ubiquitin ligase complex SCF-dependent proteasomal ubiquitin-dependent protein catabolic process protein destabilization regulation of circadian rhythm entrainment of circadian clock by photoperiod proteasome-mediated ubiquitin-dependent protein catabolic process rhythmic process regulation of cell cycle ubiquitin protein ligase activity uc007uwj.1 uc007uwj.2 uc007uwj.3 
ENSMUST00000022721.8 Cln5 ENSMUST00000022721.8 ceroid-lipofuscinosis, neuronal 5 (from RefSeq NM_001033242.2) CLN5_MOUSE ENSMUST00000022721.1 ENSMUST00000022721.2 ENSMUST00000022721.3 ENSMUST00000022721.4 ENSMUST00000022721.5 ENSMUST00000022721.6 ENSMUST00000022721.7 NM_001033242 Q3UMW8 Q8C054 Q8R152 uc007uwg.1 uc007uwg.2 uc007uwg.3 Plays a role in influencing the retrograde trafficking of lysosomal sorting receptors SORT1 and IGF2R from the endosomes to the trans-Golgi network by controlling the recruitment of retromer complex to the endosomal membrane. Regulates the localization and activation of RAB7A which is required to recruit the retromer complex to the endosomal membrane. Interacts with PPT1, TPP1, CLN3, CLN6, CLN8, ATP5F1A and ATP5F1B (PubMed:19941651). Interacts with SORT1, RAB5A and RAB7A (By similarity). [Ceroid-lipofuscinosis neuronal protein 5 homolog, secreted form]: Lysosome [Ceroid-lipofuscinosis neuronal protein 5 homolog]: Membrane ; Single-pass type II membrane protein Note=An amphipathic anchor region facilitates its association with the membrane. Heart, kidney, liver, spleen, muscle and rectum (at protein level). N-glycosylated with both high mannose and complex type sugars. Glycosylation is important for proper folding and trafficking to the lysosomes. [Ceroid-lipofuscinosis neuronal protein 5 homolog]: The type II membrane signal anchor is proteolytically cleaved to produce a mature form that is transported to the lysosomes (Ceroid-lipofuscinosis neuronal protein 5 homolog, secreted form). Can undergo proteolytic cleavage at the C-terminus, probably by a cysteine protease and may involve the removal of approximately 10-15 residues from the C-terminal end (PubMed:26342652). Belongs to the CLN5 family. protein binding mannose binding lysosome lysosomal membrane vacuolar lumen endoplasmic reticulum Golgi apparatus cytosol signal peptide processing lysosome organization lysosomal lumen acidification brain development visual perception membrane integral component of membrane neurogenesis retrograde transport, endosome to Golgi perinuclear region of cytoplasm glycosylation positive regulation of GTP binding uc007uwg.1 uc007uwg.2 uc007uwg.3 
ENSMUST00000022722.7 Acod1 ENSMUST00000022722.7 aconitate decarboxylase 1 (from RefSeq NM_008392.1) A0A0R4J027 A0A0R4J027_MOUSE Acod1 ENSMUST00000022722.1 ENSMUST00000022722.2 ENSMUST00000022722.3 ENSMUST00000022722.4 ENSMUST00000022722.5 ENSMUST00000022722.6 Irg1 NM_008392 uc007uwf.1 uc007uwf.2 uc007uwf.3 uc007uwf.4 Belongs to the PrpD family. positive regulation of antimicrobial humoral response defense response lyase activity aconitate decarboxylase activity cellular response to lipopolysaccharide tolerance induction to lipopolysaccharide uc007uwf.1 uc007uwf.2 uc007uwf.3 uc007uwf.4 
ENSMUST00000022725.4 Dct ENSMUST00000022725.4 dopachrome tautomerase (from RefSeq NM_010024.3) Dct ENSMUST00000022725.1 ENSMUST00000022725.2 ENSMUST00000022725.3 NM_010024 P29812 Q6NXI2 TYRP2_MOUSE Tyrp-2 Tyrp2 uc007uym.1 uc007uym.2 uc007uym.3 uc007uym.4 Plays a role in melanin biosynthesis (PubMed:33100333). Catalyzes the conversion of L-dopachrome into 5,6-dihydroxyindole-2- carboxylic acid (DHICA) (PubMed:1537333, PubMed:1537334). Reaction=L-dopachrome = 5,6-dihydroxyindole-2-carboxylate; Xref=Rhea:RHEA:13041, ChEBI:CHEBI:16875, ChEBI:CHEBI:57509; EC=5.3.3.12; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) ions per subunit. Pigment biosynthesis; melanin biosynthesis. Forms an OPN3-dependent complex with TYR in response to blue light in melanocytes. Melanosome membrane ; Single-pass type I membrane protein Melanosome Note=Proper trafficking to melanosome is regulated by SGSM2, ANKRD27, RAB9A, RAB32 and RAB38. Melanocytes and retinal pigmented epithelium (at protein level). Glycosylated. Note=The slaty mutation in Tyrp2 leads to a decrease of DT activity and a consequent change in the pigmentation of the mice to a dark gray/brown eumelanin. The slaty-2j mutation has a similar phenotype, the slaty-lt (light) mutation has a more severe effect and is semidominant; its phenotype may be a result of the failure of the enzyme to be correctly targeted to its normal location on the inner face of the melanosomal membrane. Mutant mice show an hypopigmentation of the coat and have the retinal pigmented epithelium significantly less pigmented than wild-type retinas. Belongs to the tyrosinase family. positive regulation of neuroblast proliferation dopachrome isomerase activity cytoplasm cytosol melanin biosynthetic process from tyrosine membrane integral component of membrane oxidoreductase activity isomerase activity ventricular zone neuroblast division melanosome membrane melanin biosynthetic process melanosome pigmentation metal ion binding developmental pigmentation cell development oxidation-reduction process uc007uym.1 uc007uym.2 uc007uym.3 uc007uym.4 
ENSMUST00000022727.10 Tgds ENSMUST00000022727.10 TDP-glucose 4,6-dehydratase (from RefSeq NM_029578.3) ENSMUST00000022727.1 ENSMUST00000022727.2 ENSMUST00000022727.3 ENSMUST00000022727.4 ENSMUST00000022727.5 ENSMUST00000022727.6 ENSMUST00000022727.7 ENSMUST00000022727.8 ENSMUST00000022727.9 NM_029578 Q3U4A6 Q8VDR7 TGDS_MOUSE uc007uyo.1 uc007uyo.2 uc007uyo.3 uc007uyo.4 Reaction=dTDP-alpha-D-glucose = dTDP-4-dehydro-6-deoxy-alpha-D-glucose + H2O; Xref=Rhea:RHEA:17221, ChEBI:CHEBI:15377, ChEBI:CHEBI:57477, ChEBI:CHEBI:57649; EC=4.2.1.46; Name=NAD(+); Xref=ChEBI:CHEBI:57540; Evidence=; Belongs to the NAD(P)-dependent epimerase/dehydratase family. dTDP-glucose dehydratase subfamily. molecular_function cellular_component biological_process dTDP-glucose 4,6-dehydratase activity nucleotide-sugar metabolic process lyase activity uc007uyo.1 uc007uyo.2 uc007uyo.3 uc007uyo.4 
ENSMUST00000022728.4 Gpr180 ENSMUST00000022728.4 G protein-coupled receptor 180 (from RefSeq NM_021434.5) ENSMUST00000022728.1 ENSMUST00000022728.2 ENSMUST00000022728.3 GP180_MOUSE MNCb-3029 NM_021434 Q8BPS4 Q9JJG1 uc007uyq.1 uc007uyq.2 uc007uyq.3 uc007uyq.4 Membrane ; Multi-pass membrane protein molecular_function G-protein coupled receptor signaling pathway biological_process membrane integral component of membrane response to pheromone uc007uyq.1 uc007uyq.2 uc007uyq.3 uc007uyq.4 
ENSMUST00000022734.9 Dnajc3 ENSMUST00000022734.9 DnaJ heat shock protein family (Hsp40) member C3 (from RefSeq NM_008929.4) DNJC3_MOUSE ENSMUST00000022734.1 ENSMUST00000022734.2 ENSMUST00000022734.3 ENSMUST00000022734.4 ENSMUST00000022734.5 ENSMUST00000022734.6 ENSMUST00000022734.7 ENSMUST00000022734.8 NM_008929 P58ipk Q60873 Q91YW3 uc007uzd.1 uc007uzd.2 uc007uzd.3 uc007uzd.4 Involved in the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Acts as a negative regulator of the EIF2AK4/GCN2 kinase activity by preventing the phosphorylation of eIF- 2-alpha at 'Ser-52' and hence attenuating general protein synthesis under ER stress, hypothermic and amino acid starving stress conditions (PubMed:25329545). Co-chaperone of HSPA8/HSC70, it stimulates its ATPase activity. May inhibit both the autophosphorylation of EIF2AK2/PKR and the ability of EIF2AK2 to catalyze phosphorylation of the EIF2A. May inhibit EIF2AK3/PERK activity (By similarity). Interacts with EIF2AK4/GCN2; this interaction occurs under endoplasmic reticulum (ER) stress, hypothermic and amino acid starving stress conditions and inhibits EIF2AK4/GCN2 kinase activity (PubMed:25329545). Interacts with EIF2AK3 (PubMed:12446838). Interacts with EIF2AK2. Forms a trimeric complex with DNAJB1 and HSPA8. Interacts with THAP12 (By similarity). Q91YW3; P11021: HSPA5; Xeno; NbExp=2; IntAct=EBI-8381770, EBI-354921; Endoplasmic reticulum Widely expressed, with high level in the liver. Up-regulated during an endoplasmic reticulum stress. The J domain mediates interaction with HSPA8. Binding to misfolded proteins is mediated by a hydrophobic patch forming a large groove within the first two TPR repeats. protein kinase inhibitor activity protein binding cytoplasm endoplasmic reticulum endoplasmic reticulum lumen smooth endoplasmic reticulum cytosol regulation of translation negative regulation of protein kinase activity response to unfolded protein protein kinase binding endoplasmic reticulum unfolded protein response protein folding in endoplasmic reticulum response to endoplasmic reticulum stress positive regulation of translation initiation in response to endoplasmic reticulum stress negative regulation of apoptotic process chaperone binding proteolysis involved in cellular protein catabolic process misfolded protein binding cellular response to cold negative regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation uc007uzd.1 uc007uzd.2 uc007uzd.3 uc007uzd.4 
ENSMUST00000022744.5 Gdnf ENSMUST00000022744.5 glial cell line derived neurotrophic factor, transcript variant 1 (from RefSeq NM_010275.3) ENSMUST00000022744.1 ENSMUST00000022744.2 ENSMUST00000022744.3 ENSMUST00000022744.4 GDNF_MOUSE NM_010275 O09058 P48540 P70446 P97919 P97920 Q6LEL9 uc007vee.1 uc007vee.2 uc007vee.3 uc007vee.4 This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. The recombinant form of this protein, a highly conserved neurotrophic factor, was shown to promote the survival and differentiation of dopaminergic neurons in culture, and was able to prevent apoptosis of motor neurons induced by axotomy. This protein is a ligand for the product of the RET (rearranged during transfection) protooncogene. Homozygous knockout mice for this gene exhibit defects in kidney development and neonatal death. This gene encodes multiple protein isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Aug 2016]. Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high- affinity dopamine uptake. Homodimer; disulfide-linked (By similarity). Interacts with RET (By similarity). Interacts (via propeptide) with SORL1 (via N- terminal ectodomain), either alone or in complex with GFRA1; interaction with SORL1 affects GDNF-regulated, but not constitutive secretion (PubMed:21994944). Also interacts with SORL1 in complex with GFRA1; this interaction leads to GDNF endocytosis and lysosomal degradation (By similarity). Secreted Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=GDNF-alpha; IsoId=P48540-1; Sequence=Displayed; Name=2; Synonyms=GDNF-beta; IsoId=P48540-2; Sequence=VSP_026367, VSP_006421; Name=3; IsoId=P48540-3; Sequence=VSP_026367; Expressed in both the central nervous system (CNS) and in non-CNS tissues. Expressed in a highly dynamic pattern in the anterior neuroectoderm during the early stages of neurogenesis between 7.5 dpc and 10.5 dpc. Beginning at 10.5 dpc, expression begins in mesenchymal tissues of several organs including the digestive tract, kidney, testis, frontonasal mass, tooth primordium, tongue, mandible, whisker follicles, ear, eye, limb bud and in distinct regions of the brain. Also expressed in the heart, ileum, liver and muscle. First detected at 7.5 dpc, reaches its peak around 9.5 dpc and declines considerably after 10.5 dpc. Expression in C6 glioma cells was transiently induced by treatment with phorbol myristate acetate (PMA), but not by forskolin. Belongs to the TGF-beta family. GDNF subfamily. metanephros development ureteric bud development branching involved in ureteric bud morphogenesis neural crest cell migration organ induction postsynaptic membrane organization mesenchymal to epithelial transition involved in metanephros morphogenesis transforming growth factor beta receptor binding extracellular region extracellular space Golgi apparatus transmembrane receptor protein tyrosine kinase signaling pathway transforming growth factor beta receptor signaling pathway nervous system development peripheral nervous system development growth factor activity cell proliferation positive regulation of cell proliferation response to wounding regulation of gene expression dorsal spinal cord development postganglionic parasympathetic fiber development glial cell-derived neurotrophic factor receptor binding neuron differentiation peristalsis receptor tyrosine kinase binding neuron projection development positive regulation of monooxygenase activity protein homodimerization activity receptor complex negative regulation of neuron apoptotic process positive regulation of cell differentiation positive regulation of transcription from RNA polymerase II promoter receptor agonist activity mRNA stabilization enteric nervous system development sympathetic nervous system development embryonic organ development positive regulation of peptidyl-tyrosine phosphorylation regulation of dopamine uptake involved in synaptic transmission ureteric bud formation regulation of morphogenesis of a branching structure cellular response to dexamethasone stimulus commissural neuron axon guidance regulation of ureteric bud formation positive regulation of ureteric bud formation positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis positive regulation of branching involved in ureteric bud morphogenesis neural crest cell migration involved in autonomic nervous system development negative regulation of extrinsic apoptotic signaling pathway in absence of ligand regulation of semaphorin-plexin signaling pathway uc007vee.1 uc007vee.2 uc007vee.3 uc007vee.4 
ENSMUST00000022749.17 C9 ENSMUST00000022749.17 complement component 9, transcript variant 1 (from RefSeq NM_013485.3) CO9_MOUSE ENSMUST00000022749.1 ENSMUST00000022749.10 ENSMUST00000022749.11 ENSMUST00000022749.12 ENSMUST00000022749.13 ENSMUST00000022749.14 ENSMUST00000022749.15 ENSMUST00000022749.16 ENSMUST00000022749.2 ENSMUST00000022749.3 ENSMUST00000022749.4 ENSMUST00000022749.5 ENSMUST00000022749.6 ENSMUST00000022749.7 ENSMUST00000022749.8 ENSMUST00000022749.9 NM_013485 P06683 Q91XA7 uc007vdh.1 uc007vdh.2 uc007vdh.3 Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C9 is the pore-forming subunit of the MAC. Component of the membrane attack complex (MAC). MAC assembly is initiated by proteolytic cleavage of C5 into C5a and C5b. C5b binds sequentially C6, C7, C8 and multiple copies of the pore-forming subunit C9. About 20 C9 chains oligomerize to give rise to a huge beta-barrel that forms a 100 Angstrom diameter pore in target membranes. Secreted Target cell membrane ; Multi-pass membrane protein Note=Secreted as soluble monomer. Oligomerizes at target membranes, forming a pre-pore. A conformation change then leads to the formation of a 100 Angstrom diameter pore. Initially, positions and connectivity of disulfide bonds were based on peptide sequencing done for the human protein. The high- resolution crystal structure for the mouse protein corrected the positions and connectivities of some disulfide bonds (PubMed:30111885). The distance between Cys-55 and Cys-92 in the monomeric mouse protein precludes formation of a disulfide bond, contrary to what is seen in the structure of the human polymeric form of the protein (Probable). Belongs to the complement C6/C7/C8/C9 family. Sequence=AAH11137.1; Type=Erroneous initiation; Evidence=; cell killing immune system process extracellular region membrane attack complex extracellular space cytosol plasma membrane immune response complement activation, alternative pathway complement activation, classical pathway blood coagulation membrane integral component of membrane cytolysis other organism cell membrane innate immune response protein homooligomerization uc007vdh.1 uc007vdh.2 uc007vdh.3 
ENSMUST00000022757.5 Gzmf ENSMUST00000022757.5 granzyme F (from RefSeq NM_010374.3) ENSMUST00000022757.1 ENSMUST00000022757.2 ENSMUST00000022757.3 ENSMUST00000022757.4 Gzmf NM_010374 Q497Z7 Q497Z7_MOUSE uc007ubs.1 uc007ubs.2 uc007ubs.3 Cytolytic granule serine-type endopeptidase activity proteolysis peptidase activity serine-type peptidase activity hydrolase activity uc007ubs.1 uc007ubs.2 uc007ubs.3 
ENSMUST00000022765.14 Rab2b ENSMUST00000022765.14 RAB2B, member RAS oncogene family (from RefSeq NM_172601.3) ENSMUST00000022765.1 ENSMUST00000022765.10 ENSMUST00000022765.11 ENSMUST00000022765.12 ENSMUST00000022765.13 ENSMUST00000022765.2 ENSMUST00000022765.3 ENSMUST00000022765.4 ENSMUST00000022765.5 ENSMUST00000022765.6 ENSMUST00000022765.7 ENSMUST00000022765.8 ENSMUST00000022765.9 NM_172601 Q0PD64 Q0PD64_MOUSE Rab2B Rab2b uc007tox.1 uc007tox.2 uc007tox.3 uc007tox.4 Belongs to the small GTPase superfamily. Rab family. GTPase activity GTP binding positive regulation of exocytosis presynapse uc007tox.1 uc007tox.2 uc007tox.3 uc007tox.4 
ENSMUST00000022766.8 Tox4 ENSMUST00000022766.8 TOX high mobility group box family member 4 (from RefSeq NM_023434.3) ENSMUST00000022766.1 ENSMUST00000022766.2 ENSMUST00000022766.3 ENSMUST00000022766.4 ENSMUST00000022766.5 ENSMUST00000022766.6 ENSMUST00000022766.7 NM_023434 Q3UGN7 Q80UI2 Q8BU11 Q99PN9 Q9CS16 TOX4_MOUSE uc007tpa.1 uc007tpa.2 uc007tpa.3 uc007tpa.4 Transcription factor that modulates cell fate reprogramming from the somatic state to the pluripotent and neuronal fate (PubMed:31519808). Component of the PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase (By similarity). In liver, controls the expression of hormone-regulated gluconeogenic genes such as G6PC1 and PCK1. This regulation is independent of the insulin receptor activation (PubMed:34914893). In liver, recruited to target gene promoters following treatment with dexamethasone and cAMP. Binding is decreased in presence of insulin. Component of the PTW/PP1 phosphatase complex, composed of PPP1R10/PNUTS, TOX4, WDR82 and PPP1CA or PPP1CB or PPP1CC. Interacts with PPP1R10/PNUTS (By similarity). Interacts with FOXO1 and CREB1 (increased by cAMP); FOXO1 and CREB1 are required for full induction of TOX4-dependent activity and the interactions are inhibited by insulin (PubMed:34914893). Nucleus Note=Associated with chromatin. In liver, expression is increased upon high fat diet. Conditional knockout in liver lead to no 10% reduction of glucose levels after 4 hours of fasting with an improvement of glucose tolerance and an increased insulin sensitivity. nuclear chromosome, telomeric region chromatin DNA binding nucleus PTW/PP1 phosphatase complex uc007tpa.1 uc007tpa.2 uc007tpa.3 uc007tpa.4 
ENSMUST00000022767.16 Mettl3 ENSMUST00000022767.16 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit (from RefSeq NM_019721.2) A0A0R4J041 A0A0R4J041_MOUSE ENSMUST00000022767.1 ENSMUST00000022767.10 ENSMUST00000022767.11 ENSMUST00000022767.12 ENSMUST00000022767.13 ENSMUST00000022767.14 ENSMUST00000022767.15 ENSMUST00000022767.2 ENSMUST00000022767.3 ENSMUST00000022767.4 ENSMUST00000022767.5 ENSMUST00000022767.6 ENSMUST00000022767.7 ENSMUST00000022767.8 ENSMUST00000022767.9 Mettl3 NM_019721 uc007tpc.1 uc007tpc.2 uc007tpc.3 uc007tpc.4 Reaction=an adenosine in mRNA + S-adenosyl-L-methionine = an N(6)- methyladenosine in mRNA + H(+) + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:55584, Rhea:RHEA-COMP:12414, Rhea:RHEA-COMP:12417, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74411, ChEBI:CHEBI:74449; EC=2.1.1.348; Evidence=; Belongs to the MT-A70-like family. mRNA splicing, via spliceosome RNA methylation mRNA (N6-adenosine)-methyltransferase activity mRNA binding nucleus cellular response to DNA damage stimulus RNA methyltransferase activity dosage compensation by inactivation of X chromosome mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity nuclear speck primary miRNA processing cellular response to UV MIS complex positive regulation of translation protein heterodimerization activity negative regulation of type I interferon-mediated signaling pathway mRNA methylation positive regulation of cap-independent translational initiation S-adenosyl-L-methionine binding primary miRNA methylation uc007tpc.1 uc007tpc.2 uc007tpc.3 uc007tpc.4 
ENSMUST00000022781.8 Dad1 ENSMUST00000022781.8 defender against cell death 1, transcript variant 1 (from RefSeq NM_001113358.1) DAD1_MOUSE Dad1 ENSMUST00000022781.1 ENSMUST00000022781.2 ENSMUST00000022781.3 ENSMUST00000022781.4 ENSMUST00000022781.5 ENSMUST00000022781.6 ENSMUST00000022781.7 NM_001113358 O08552 O70364 P46966 P46968 P61804 Q3V3W6 Q96GB7 uc007tvm.1 uc007tvm.2 uc007tvm.3 uc007tvm.4 Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol- pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (By similarity). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. Protein modification; protein glycosylation. Component of the oligosaccharyltransferase (OST) complex. OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits. STT3A complex assembly occurs through the formation of 3 subcomplexes. Subcomplex 1 contains RPN1 and TMEM258, subcomplex 2 contains the STT3A-specific subunits STT3A, DC2/OSTC, and KCP2 as well as the core subunit OST4, and subcomplex 3 contains RPN2, DAD1, and OST48. The STT3A complex can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes. Endoplasmic reticulum membrane; Multi-pass membrane protein Belongs to the DAD/OST2 family. blastocyst development dolichyl-diphosphooligosaccharide-protein glycotransferase activity endoplasmic reticulum endoplasmic reticulum membrane protein glycosylation protein N-linked glycosylation apoptotic process response to nutrient oligosaccharyltransferase complex membrane integral component of membrane response to drug negative regulation of apoptotic process oligosaccharyl transferase activity uc007tvm.1 uc007tvm.2 uc007tvm.3 uc007tvm.4 
ENSMUST00000022782.10 Lrp10 ENSMUST00000022782.10 low-density lipoprotein receptor-related protein 10 (from RefSeq NM_022993.3) ENSMUST00000022782.1 ENSMUST00000022782.2 ENSMUST00000022782.3 ENSMUST00000022782.4 ENSMUST00000022782.5 ENSMUST00000022782.6 ENSMUST00000022782.7 ENSMUST00000022782.8 ENSMUST00000022782.9 LRP10_MOUSE Lrp9 NM_022993 Q3UNT0 Q7TQH7 Q7TS95 Q921T0 Q9EPE8 uc007twd.1 uc007twd.2 uc007twd.3 uc007twd.4 Probable receptor, which is involved in the internalization of lipophilic molecules and/or signal transduction. May be involved in the uptake of lipoprotein APOE in liver. Membrane ; Single-pass type I membrane protein Membrane, coated pit Highly expressed in heart, lung, liver and liver. Expressed at low level in brain and spleen. Weakly or not expressed in testis and skeletal muscle. In liver, it is expressed in hepatocytes and at higher level in sinusoidal lining. In the kidney, it is expressed in peritubular capillaries. In brain, it is expressed in the epithelium of the choroid plexus ependymal cells of the third ventricle pia matter, and to lesser extent in hippocampal fields CA2 and CA3. Belongs to the LDLR family. Sequence=AAH11058.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; low-density lipoprotein receptor activity clathrin-coated pit lipid metabolic process lipid transport endocytosis membrane integral component of membrane inner ear development uc007twd.1 uc007twd.2 uc007twd.3 uc007twd.4 
ENSMUST00000022784.9 Haus4 ENSMUST00000022784.9 HAUS augmin-like complex, subunit 4 (from RefSeq NM_145462.2) D14Ertd500e ENSMUST00000022784.1 ENSMUST00000022784.2 ENSMUST00000022784.3 ENSMUST00000022784.4 ENSMUST00000022784.5 ENSMUST00000022784.6 ENSMUST00000022784.7 ENSMUST00000022784.8 HAUS4_MOUSE NM_145462 Q8BFT2 Q99KI1 uc007twh.1 uc007twh.2 uc007twh.3 Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. Component of the HAUS augmin-like complex. The complex interacts with the gamma-tubulin ring complex and this interaction is required for spindle assembly (By similarity). Interacts with EML3 (phosphorylated at 'Thr-882') (By similarity). Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle Note=Localizes to interphase centrosomes and to mitotic spindle microtubules. Belongs to the HAUS4 family. molecular_function cytoplasm centrosome microtubule organizing center spindle cytoskeleton microtubule cell cycle centrosome cycle microtubule minus-end binding spindle assembly cell division HAUS complex uc007twh.1 uc007twh.2 uc007twh.3 
ENSMUST00000022786.6 4931414P19Rik ENSMUST00000022786.6 RIKEN cDNA 4931414P19 gene (from RefSeq NM_028890.2) CN093_MOUSE ENSMUST00000022786.1 ENSMUST00000022786.2 ENSMUST00000022786.3 ENSMUST00000022786.4 ENSMUST00000022786.5 NM_028890 Q8K2W9 uc007twk.1 uc007twk.2 uc007twk.3 Secreted cellular_component extracellular region biological_process uc007twk.1 uc007twk.2 uc007twk.3 
ENSMUST00000022787.8 Slc7a8 ENSMUST00000022787.8 solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 (from RefSeq NM_016972.2) ENSMUST00000022787.1 ENSMUST00000022787.2 ENSMUST00000022787.3 ENSMUST00000022787.4 ENSMUST00000022787.5 ENSMUST00000022787.6 ENSMUST00000022787.7 LAT2_MOUSE Lat2 NM_016972 Q9QXW9 uc007txa.1 uc007txa.2 uc007txa.3 Associates with SLC3A2 to form a functional heterodimeric complex that translocates small and large neutral amino acids with broad specificity and a stoichiometry of 1:1 (PubMed:10574970). Functions as amino acid antiporter mediating the influx of extracellular essential amino acids mainly in exchange with the efflux of highly concentrated intracellular amino acids. Has relatively symmetrical selectivities but strongly asymmetrical substrate affinities at both the intracellular and extracellular sides of the transporter. This asymmetry allows SLC7A8 to regulate intracellular amino acid pools (mM concentrations) by exchange with external amino acids (uM concentration range), equilibrating the relative concentrations of different amino acids across the plasma membrane instead of mediating their net uptake. May play an essential role in the reabsorption of neutral amino acids from the epithelial cells to the bloodstream in the kidney. Involved in the uptake of methylmercury (MeHg) when administered as the L-cysteine or D,L-homocysteine complexes, and hence plays a role in metal ion homeostasis and toxicity. Involved in the cellular activity of small molecular weight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane (By similarity). Imports the thyroid hormone diiodothyronine (T2) and to a smaller extent triiodothyronine (T3) but not rT 3 or thyroxine (T4) (PubMed:26601072, PubMed:28108384). Mediates the uptake of L-DOPA (By similarity). May participate in auditory function (PubMed:29355479). Reaction=L-histidine(in) + L-phenylalanine(out) = L-histidine(out) + L- phenylalanine(in); Xref=Rhea:RHEA:71003, ChEBI:CHEBI:57595, ChEBI:CHEBI:58095; Evidence=; Reaction=L-phenylalanine(out) + L-tryptophan(in) = L-phenylalanine(in) + L-tryptophan(out); Xref=Rhea:RHEA:71007, ChEBI:CHEBI:57912, ChEBI:CHEBI:58095; Evidence=; Reaction=L-isoleucine(in) + L-phenylalanine(out) = L-isoleucine(out) + L-phenylalanine(in); Xref=Rhea:RHEA:71011, ChEBI:CHEBI:58045, ChEBI:CHEBI:58095; Evidence=; Reaction=L-phenylalanine(out) + L-valine(in) = L-phenylalanine(in) + L- valine(out); Xref=Rhea:RHEA:71019, ChEBI:CHEBI:57762, ChEBI:CHEBI:58095; Evidence=; Reaction=L-leucine(in) + L-phenylalanine(out) = L-leucine(out) + L- phenylalanine(in); Xref=Rhea:RHEA:71023, ChEBI:CHEBI:57427, ChEBI:CHEBI:58095; Evidence=; Reaction=L-glutamine(in) + L-phenylalanine(out) = L-glutamine(out) + L- phenylalanine(in); Xref=Rhea:RHEA:71027, ChEBI:CHEBI:58095, ChEBI:CHEBI:58359; Evidence=; Reaction=L-cysteine(in) + L-phenylalanine(out) = L-cysteine(out) + L- phenylalanine(in); Xref=Rhea:RHEA:71031, ChEBI:CHEBI:35235, ChEBI:CHEBI:58095; Evidence=; Reaction=L-methionine(in) + L-phenylalanine(out) = L-methionine(out) + L-phenylalanine(in); Xref=Rhea:RHEA:71039, ChEBI:CHEBI:57844, ChEBI:CHEBI:58095; Evidence=; Reaction=L-leucine(out) + L-methionine(in) = L-leucine(in) + L- methionine(out); Xref=Rhea:RHEA:71051, ChEBI:CHEBI:57427, ChEBI:CHEBI:57844; Evidence=; Reaction=L-cysteine(out) + L-methionine(in) = L-cysteine(in) + L- methionine(out); Xref=Rhea:RHEA:71055, ChEBI:CHEBI:35235, ChEBI:CHEBI:57844; Evidence=; Reaction=L-methionine(in) + S-methylmercury-L-cysteine(out) = L- methionine(out) + S-methylmercury-L-cysteine(in); Xref=Rhea:RHEA:71103, ChEBI:CHEBI:57844, ChEBI:CHEBI:190186; Evidence=; Reaction=L-leucine(out) + S-methylmercury-L-cysteine(in) = L- leucine(in) + S-methylmercury-L-cysteine(out); Xref=Rhea:RHEA:71107, ChEBI:CHEBI:57427, ChEBI:CHEBI:190186; Evidence=; Reaction=L-phenylalanine(out) + S-methylmercury-L-cysteine(in) = L- phenylalanine(in) + S-methylmercury-L-cysteine(out); Xref=Rhea:RHEA:71111, ChEBI:CHEBI:58095, ChEBI:CHEBI:190186; Evidence=; Reaction=L-phenylalanine(out) + L-serine(in) = L-phenylalanine(in) + L- serine(out); Xref=Rhea:RHEA:71035, ChEBI:CHEBI:33384, ChEBI:CHEBI:58095; Evidence=; Reaction=glycine(in) + L-phenylalanine(out) = glycine(out) + L- phenylalanine(in); Xref=Rhea:RHEA:71047, ChEBI:CHEBI:57305, ChEBI:CHEBI:58095; Evidence=; Reaction=L-alanine(in) + L-phenylalanine(out) = L-alanine(out) + L- phenylalanine(in); Xref=Rhea:RHEA:71043, ChEBI:CHEBI:57972, ChEBI:CHEBI:58095; Evidence=; Reaction=L-tryptophan(in) = L-tryptophan(out); Xref=Rhea:RHEA:70947, ChEBI:CHEBI:57912; Evidence=; Reaction=3,3',5-triiodo-L-thyronine(out) = 3,3',5-triiodo-L- thyronine(in); Xref=Rhea:RHEA:71811, ChEBI:CHEBI:533015; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71812; Evidence=; Reaction=3,3'-diiodo-L-thyronine(out) = 3,3'-diiodo-L-thyronine(in); Xref=Rhea:RHEA:71823, ChEBI:CHEBI:176514; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71824; Evidence=; Reaction=L-dopa(out) + L-phenylalanine(in) = L-dopa(in) + L- phenylalanine(out); Xref=Rhea:RHEA:71439, ChEBI:CHEBI:57504, ChEBI:CHEBI:58095; Evidence=; Kinetic parameters: KM=12.2 uM for L-phenylalanine ; KM=48 uM for L-leucine ; KM=167 uM for L-alanine ; KM=294 uM for L-histidine ; KM=275 uM for L-glutamine ; KM=16.2 uM for 3,3'-diiodo-L-thyronine ; KM=18.6 uM for 3,3'-diiodo-L-thyronine ; Disulfide-linked heterodimer composed of the catalytic light chain subunit SLC7A8 and the heavy chain subunit SLC3A2 (PubMed:10574970). SLC3A2 acts as a chaperone for correct plasma membrane trafficking and stabilization of SLC7A8 and modulates the substrate affinity and specificity of SLC7A8. ICAM-1 associates with the heterodimer SLC3A2/SLC7A8; facilitates leucine uptake (By similarity). Cell membrane ulti-pass membrane protein Basolateral cell membrane ; Multi-pass membrane protein Note=When coexpressed with SLC3A2/4F2hc, is localized to the plasma membrane. Colocalized with SLC3A2/4F2hc at the basolateral membrane of kidney cortex proximal tubules and small intestine epithelia of the villi. Strongly expressed in kidney and small intestine. Moderately present in placenta, ovary and brain (PubMed:10574970, PubMed:29355479). Expressed in the inner ear (PubMed:29355479). Slc7a8-deficient mice present normal development and growth. Only a slightly altered coordination of movements is observed in Slc7a8-deficient mice. Circulating thyroid hormones, thyrotropin and thyroid hormone-responsive genes remain unchange. Functional compensation by other amino acid transporters might explain the lack of a severe phenotype (PubMed:21726201). The lack of Slc7a8 results in a significant increase of cataracts in old animals, in particularly in old females (PubMed:31231240). Slc7a8-deficient mice dysplay a hearing loss defect with incomplete penetrance affecting mainly high-frequency sounds, hearing loss severity increases with age in Slc7a8-deficient mice (PubMed:29355479). Belongs to the amino acid-polyamine-organocation (APC) superfamily. L-type amino acid transporter (LAT) (TC 2.A.3.8) family. amino acid transmembrane transport amine transmembrane transporter activity cytoplasm plasma membrane amino acid transport organic cation transmembrane transporter activity amino acid transmembrane transporter activity neutral amino acid transmembrane transporter activity L-amino acid transmembrane transporter activity organic cation transport neutral amino acid transport L-amino acid transport amine transport membrane integral component of membrane basolateral plasma membrane toxin transporter activity transmembrane transporter activity transmembrane transport toxin transport L-alpha-amino acid transmembrane transport uc007txa.1 uc007txa.2 uc007txa.3 
ENSMUST00000022791.9 Fbxo4 ENSMUST00000022791.9 F-box protein 4 (from RefSeq NM_134099.2) E9QPM9 ENSMUST00000022791.1 ENSMUST00000022791.2 ENSMUST00000022791.3 ENSMUST00000022791.4 ENSMUST00000022791.5 ENSMUST00000022791.6 ENSMUST00000022791.7 ENSMUST00000022791.8 FBX4_MOUSE Fbx4 Fbxo4 NM_134099 Q8CHQ0 Q99JG8 uc007vcf.1 uc007vcf.2 uc007vcf.3 uc007vcf.4 Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex that mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:17081987, PubMed:18598945, PubMed:19767775, PubMed:29142209). Promotes ubiquitination of CCND1 and its subsequent proteasomal degradation (PubMed:17081987, PubMed:18598945, PubMed:19767775). Recognizes TERF1 and promotes its ubiquitination together with UBE2D1 (By similarity). Promotes ubiquitination of FXR1 following phosphorylation of FXR1 by GSK3B, leading to FXR1 degradation by the proteasome (PubMed:29142209). Protein modification; protein ubiquitination. Homodimer (By similarity). Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO4) formed of CUL1, SKP1, RBX1 and FBXO4 (PubMed:17081987). Interacts with TERF1; this interaction is prevented in the presence of GNL3L (PubMed:19487455). Identified in a complex with CRYAB and CCND1 (PubMed:17081987). Q8CHQ0; P62259: Ywhae; NbExp=2; IntAct=EBI-3895153, EBI-356480; Cytoplasm Phosphorylation at Ser-11 varies during the cell cycle. It is low in resting cells and high in the S phase and the G2/M phase of the cell cycle. Phosphorylation is decreased during late G1 phase. Phosphorylation at Ser-11 is important for homodimerization and for optimal ubiquitin ligase activity towards CCND1. ubiquitin ligase complex protein polyubiquitination telomere maintenance ubiquitin-protein transferase activity protein binding cytoplasm ubiquitin-dependent protein catabolic process aging posttranscriptional regulation of gene expression protein ubiquitination SCF ubiquitin ligase complex cellular homeostasis SCF-dependent proteasomal ubiquitin-dependent protein catabolic process positive regulation of protein ubiquitination regulation of protein stability protein destabilization positive regulation of telomere maintenance via telomerase common myeloid progenitor cell proliferation protein homodimerization activity negative regulation of fibroblast proliferation ubiquitin protein ligase activity cellular response to ionizing radiation negative regulation of protein localization to nucleus positive regulation of protein polyubiquitination regulation of DNA damage checkpoint uc007vcf.1 uc007vcf.2 uc007vcf.3 uc007vcf.4 
ENSMUST00000022803.6 Psmb5 ENSMUST00000022803.6 proteasome (prosome, macropain) subunit, beta type 5 (from RefSeq NM_011186.1) ENSMUST00000022803.1 ENSMUST00000022803.2 ENSMUST00000022803.3 ENSMUST00000022803.4 ENSMUST00000022803.5 NM_011186 O55234 PSB5_MOUSE Q3UZI1 Q91X53 Q9CWR4 Q9R1P2 uc007twl.1 uc007twl.2 uc007twl.3 Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with two 19S regulatory particles, forms the 26S proteasome and thus participates in the ATP- dependent degradation of ubiquitinated proteins. The 26S proteasome plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins that could impair cellular functions, and by removing proteins whose functions are no longer required. Associated with the PA200 or PA28, the 20S proteasome mediates ubiquitin- independent protein degradation. This type of proteolysis is required in several pathways including spermatogenesis (20S-PA200 complex) or generation of a subset of MHC class I-presented antigenic peptides (20S-PA28 complex). Within the 20S core complex, PSMB5 displays a chymotrypsin-like activity. Reaction=Cleavage of peptide bonds with very broad specificity.; EC=3.4.25.1; Evidence=; The 26S proteasome consists of a 20S proteasome core and two 19S regulatory subunits. The 20S proteasome core is a barrel-shaped complex made of 28 subunits that are arranged in four stacked rings. The two outer rings are each formed by seven alpha subunits, and the two inner rings are formed by seven beta subunits. The proteolytic activity is exerted by three beta-subunits PSMB5, PSMB6 and PSMB7 (PubMed:16857966, PubMed:22341445). Directly interacts with POMP (By similarity). Interacts with ABCB1 and TAP1 (By similarity). Cytoplasm Nucleus Note=Translocated from the cytoplasm into the nucleus following interaction with AKIRIN2, which bridges the proteasome with the nuclear import receptor IPO9. Expressed in uterus at the embryo implantation site. Up-regulated in embryonic fibroblasts and neuroblastoma cells by antioxidants through the Nrf2-ARE pathway (at protein level). Up-regulated by the antioxidant dithiolethione (D3T) in liver, small intestine and brain (at protein level). Down-regulated under lithium treatment. Belongs to the peptidase T1B family. proteasome complex endopeptidase activity threonine-type endopeptidase activity nucleus nucleoplasm cytoplasm centrosome cytosol proteasome core complex proteolysis response to oxidative stress peptidase activity proteasomal protein catabolic process proteasomal ubiquitin-independent protein catabolic process hydrolase activity proteasome core complex, beta-subunit complex proteasome-mediated ubiquitin-dependent protein catabolic process proteolysis involved in cellular protein catabolic process uc007twl.1 uc007twl.2 uc007twl.3 
ENSMUST00000022806.10 Bcl2l2 ENSMUST00000022806.10 BCL2-like 2, transcript variant 1 (from RefSeq NM_007537.2) B2CL2_MOUSE Bclw ENSMUST00000022806.1 ENSMUST00000022806.2 ENSMUST00000022806.3 ENSMUST00000022806.4 ENSMUST00000022806.5 ENSMUST00000022806.6 ENSMUST00000022806.7 ENSMUST00000022806.8 ENSMUST00000022806.9 Kiaa0271 NM_007537 P70345 Q545Q4 Q6A093 Q8CFR2 Q8CGL4 Q9CYW5 uc007txe.1 uc007txe.2 uc007txe.3 Promotes cell survival. Blocks dexamethasone-induced apoptosis. Mediates survival of postmitotic Sertoli cells by suppressing death-promoting activity of BAX. Interacts with HIF3A isoform 2 (via C-terminus domain) (PubMed:21546903). Interacts with BOP (By similarity). Mitochondrion membrane ; Peripheral membrane protein Note=Loosely associated with the mitochondrial membrane in healthy cells. During apoptosis, tightly bound to the membrane (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P70345-1; Sequence=Displayed; Name=2; IsoId=P70345-2; Sequence=VSP_014780; Expressed in almost all myeloid cell lines and in a wide range of tissues, with highest levels in brain, colon, and salivary gland. Expressed in both mitotic and postmitotic Sertoli cells. By Igf1. The BH4 motif seems to be involved in the anti-apoptotic function. The BH1 and BH2 motifs form a hydrophobic groove which acts as a docking site for the BH3 domain of some pro-apoptotic proteins. The C-terminal residues of BCL2L2 fold into the BH3-binding cleft and modulate pro-survival activity by regulating ligand access. When BH3 domain-containing proteins bind, they displace the C-terminus, allowing its insertion into the membrane and neutralizing the pro-survival activity of BCL2L2 (By similarity). Mice are sterile due to arrest in spermatogenesis associated with a gradual loss of germ and Sertoli cells from the testis. Belongs to the Bcl-2 family. Sequence=BAD32203.1; Type=Frameshift; Evidence=; protein binding cytoplasm mitochondrion mitochondrial outer membrane cytosol apoptotic process intrinsic apoptotic signaling pathway in response to DNA damage membrane mitochondrial membrane negative regulation of mitochondrial membrane permeability identical protein binding protein homodimerization activity regulation of apoptotic process negative regulation of apoptotic process protein heterodimerization activity BH domain binding Sertoli cell proliferation cellular response to estradiol stimulus negative regulation of release of cytochrome c from mitochondria Bcl-2 family protein complex extrinsic apoptotic signaling pathway in absence of ligand disordered domain specific binding cellular response to beta-amyloid negative regulation of intrinsic apoptotic signaling pathway uc007txe.1 uc007txe.2 uc007txe.3 
ENSMUST00000022813.8 Efs ENSMUST00000022813.8 embryonal Fyn-associated substrate, transcript variant 1 (from RefSeq NM_010112.5) EFS_MOUSE ENSMUST00000022813.1 ENSMUST00000022813.2 ENSMUST00000022813.3 ENSMUST00000022813.4 ENSMUST00000022813.5 ENSMUST00000022813.6 ENSMUST00000022813.7 NM_010112 Q64355 Q8BSX4 Sin uc007txm.1 uc007txm.2 uc007txm.3 uc007txm.4 Docking protein which plays a central coordinating role for tyrosine-kinase-based signaling related to cell adhesion. May serve as an activator of SRC and a downstream effector. Interacts with the SH3 domain of FYN and with CRK, SRC, and YES. Widely expressed. Higher levels found in placenta and embryo. Lower levels found in brain, brainstem, muscle and lung. No expression in liver and intestine. Contains a central domain (substrate domain) containing multiple potential SH2-binding sites and a C-terminal domain containing a divergent helix-loop-helix (HLH) motif. The SH2-binding sites putatively bind CRK, NCK and ABL SH2 domains. The SH3-binding sites that bind to the SRC SH3 domain are required for interaction with CRK and are implicated in promotion of serum response element (SRE) activation. The SH3 domain interacts with PTK2/FAK1. Phosphorylated on multiple tyrosine residues. Phosphorylated on tyrosines by FYN and SRC. Belongs to the CAS family. cytoplasm cell adhesion cell migration SH3 domain binding protein domain specific binding actin filament reorganization plasma membrane uc007txm.1 uc007txm.2 uc007txm.3 uc007txm.4 
ENSMUST00000022815.10 Ngdn ENSMUST00000022815.10 neuroguidin, EIF4E binding protein (from RefSeq NM_026890.2) ENSMUST00000022815.1 ENSMUST00000022815.2 ENSMUST00000022815.3 ENSMUST00000022815.4 ENSMUST00000022815.5 ENSMUST00000022815.6 ENSMUST00000022815.7 ENSMUST00000022815.8 ENSMUST00000022815.9 NGDN_MOUSE NM_026890 Ngd Q8CIJ2 Q9DB96 uc007txx.1 uc007txx.2 uc007txx.3 uc007txx.4 uc007txx.5 Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre- rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre- ribosomal RNA by the RNA exosome. Its dissociation from the complex determines the transition from state pre-A1 to state pre-A1* (By similarity). Inhibits mRNA translation in a cytoplasmic polyadenylation element (CPE)-dependent manner (PubMed:16705177). Interacts with CPEB1 and EIF4E. Nucleus Nucleus, nucleolus Chromosome, centromere Cytoplasm Cell projection, axon Cell projection, dendrite Cell projection, filopodium Note=Translocated from nucleolus to nuclear foci in response to UV damage (By similarity). Detected in axons, dendrites and filopodia. Colocalized with EIF4E in neurites. Expressed in testis, ovary, spleen, kidney, hippocampus and cerebellum (at protein level). Expressed in testis, ovary, spleen, kidney, brain. Belongs to the SAS10 family. Sequence=AAH23770.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) chromosome, centromeric region nucleus chromosome nucleolus cytoplasm mitochondrion regulation of translation filopodium axon dendrite small-subunit processome cell projection uc007txx.1 uc007txx.2 uc007txx.3 uc007txx.4 uc007txx.5 
ENSMUST00000022816.15 Sub1 ENSMUST00000022816.15 SUB1 homolog, transcriptional regulator, transcript variant 1 (from RefSeq NM_011294.4) ENSMUST00000022816.1 ENSMUST00000022816.10 ENSMUST00000022816.11 ENSMUST00000022816.12 ENSMUST00000022816.13 ENSMUST00000022816.14 ENSMUST00000022816.2 ENSMUST00000022816.3 ENSMUST00000022816.4 ENSMUST00000022816.5 ENSMUST00000022816.6 ENSMUST00000022816.7 ENSMUST00000022816.8 ENSMUST00000022816.9 NM_011294 P11031 Pc4 Q3UJR5 Q543N2 Rpo2tc1 TCP4_MOUSE uc007vhj.1 uc007vhj.2 uc007vhj.3 General coactivator that functions cooperatively with TAFs and mediates functional interactions between upstream activators and the general transcriptional machinery. May be involved in stabilizing the multiprotein transcription complex. Binds single-stranded DNA. Also binds, in vitro, non-specifically to double-stranded DNA (ds DNA). Homodimer. Interacts with CSTF2 (By similarity). Nucleus. Activity is controlled by protein kinases that target the regulatory region. Phosphorylation inactivates both ds DNA-binding and cofactor function, but does not affect binding to ssDNA (By similarity). Belongs to the transcriptional coactivator PC4 family. RNA polymerase II distal enhancer sequence-specific DNA binding DNA binding DNA helicase activity double-stranded DNA binding single-stranded DNA binding transcription coactivator activity nucleus transcription factor complex nucleolus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter DNA duplex unwinding activating transcription factor binding identical protein binding protein homooligomerization positive regulation of transcription initiation from RNA polymerase II promoter SMAD protein signal transduction uc007vhj.1 uc007vhj.2 uc007vhj.3 
ENSMUST00000022819.13 Jph4 ENSMUST00000022819.13 junctophilin 4 (from RefSeq NM_177049.5) ENSMUST00000022819.1 ENSMUST00000022819.10 ENSMUST00000022819.11 ENSMUST00000022819.12 ENSMUST00000022819.2 ENSMUST00000022819.3 ENSMUST00000022819.4 ENSMUST00000022819.5 ENSMUST00000022819.6 ENSMUST00000022819.7 ENSMUST00000022819.8 ENSMUST00000022819.9 JPH4_MOUSE Jphl1 NM_177049 Q69FB2 Q80WT0 Q8BMI1 uc007tyh.1 uc007tyh.2 uc007tyh.3 Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH4 is brain- specific and appears to have an active role in certain neurons involved in motor coordination and memory. Cell membrane ; Peripheral membrane protein Endoplasmic reticulum membrane ; Single-pass type IV membrane protein Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q80WT0-1; Sequence=Displayed; Name=2; IsoId=Q80WT0-2; Sequence=VSP_008197, VSP_008198; Specifically expressed in brain. Highest levels in the olfactory tubercle, caudate putamen, nucleus accumbens, hippocampal formation, piriform cortex and cerebellar cortex. Expressed in disctete neurons sites. In hippocampal formation, expressed in dendrites of hippocampal pyramidal and denate granule cells. In cerebellum, it is highly expressed in Purkinje cells, while it is weakly expressed in granular cells. The MORN (membrane occupation and recognition nexus) repeats contribute to the plasma membrane binding, possibly by interacting with phospholipids. Jph3 and Jph4 double null mutants exhibit atypical depolarizing responses, irregular cerebellar plasticity due to abolished crosstalk in Purkinje cells. There is hyperphosphorylation of PRKCG and mild impairment of synaptic maturation. Exploratory activity, hippocampal plasticity and memory are impaired and there is abnormal foot-clasping reflex. [Isoform 2]: Due to intron retention. Belongs to the junctophilin family. regulation of cytokine production endoplasmic reticulum endoplasmic reticulum membrane smooth endoplasmic reticulum plasma membrane learning calcium-release channel activity membrane integral component of membrane junctional membrane complex dendritic shaft regulation of synaptic plasticity neuromuscular process controlling balance release of sequestered calcium ion into cytosol regulation of store-operated calcium entry uc007tyh.1 uc007tyh.2 uc007tyh.3 
ENSMUST00000022820.12 Dhrs2 ENSMUST00000022820.12 dehydrogenase/reductase member 2 (from RefSeq NM_027790.2) Dhrs2 ENSMUST00000022820.1 ENSMUST00000022820.10 ENSMUST00000022820.11 ENSMUST00000022820.2 ENSMUST00000022820.3 ENSMUST00000022820.4 ENSMUST00000022820.5 ENSMUST00000022820.6 ENSMUST00000022820.7 ENSMUST00000022820.8 ENSMUST00000022820.9 NM_027790 Q149L0 Q149L0_MOUSE uc007tyk.1 uc007tyk.2 uc007tyk.3 uc007tyk.4 Belongs to the short-chain dehydrogenases/reductases (SDR) family. molecular_function carbonyl reductase (NADPH) activity cellular_component nucleus nuclear envelope cytoplasm mitochondrion biological_process response to toxic substance oxidoreductase activity cellular response to oxidative stress myeloid dendritic cell differentiation negative regulation of apoptotic process oxidation-reduction process uc007tyk.1 uc007tyk.2 uc007tyk.3 uc007tyk.4 
ENSMUST00000022821.8 Dhrs4 ENSMUST00000022821.8 dehydrogenase/reductase 4, transcript variant 1 (from RefSeq NM_001037938.2) D14Ucla2 DHRS4_MOUSE Dhrs4 ENSMUST00000022821.1 ENSMUST00000022821.2 ENSMUST00000022821.3 ENSMUST00000022821.4 ENSMUST00000022821.5 ENSMUST00000022821.6 ENSMUST00000022821.7 G3X8V7 NM_001037938 Q99LB2 Q9EQU4 uc007tym.1 uc007tym.2 uc007tym.3 NADPH-dependent oxidoreductase which catalyzes the reduction of a variety of compounds bearing carbonyl groups including ketosteroids, alpha-dicarbonyl compounds, aldehydes, aromatic ketones and quinones. Reduces all-trans-retinal and 9-cis retinal. Reduces 3- ketosteroids and benzil into 3alpha-hydroxysteroids and S-benzoin, respectively, in contrast to the stereoselectivity of primates DHRS4s which produce 3beta-hydroxysteroids and R-benzoin. In the reverse reaction, catalyzes the NADP-dependent oxidation of 3alpha- hydroxysteroids and alcohol, but with much lower efficiency. Involved in the metabolism of 3alpha-hydroxysteroids, retinoid, isatin and xenobiotic carbonyl compounds. Reaction=a secondary alcohol + NADP(+) = a ketone + H(+) + NADPH; Xref=Rhea:RHEA:19257, ChEBI:CHEBI:15378, ChEBI:CHEBI:17087, ChEBI:CHEBI:35681, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.184; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:19259; Evidence=; Reaction=3alpha-hydroxy-5beta-pregnan-20-one + NADP(+) = 5beta-pregnan- 3,20-dione + H(+) + NADPH; Xref=Rhea:RHEA:69016, ChEBI:CHEBI:1712, ChEBI:CHEBI:15378, ChEBI:CHEBI:30154, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:69017; Evidence=; Reaction=5beta-dihydrotestosterone + H(+) + NADPH = 5beta-androstane- 3alpha,17beta-diol + NADP(+); Xref=Rhea:RHEA:69028, ChEBI:CHEBI:2150, ChEBI:CHEBI:15378, ChEBI:CHEBI:36714, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:69029; Evidence=; Reaction=all-trans-retinol + NADP(+) = all-trans-retinal + H(+) + NADPH; Xref=Rhea:RHEA:25033, ChEBI:CHEBI:15378, ChEBI:CHEBI:17336, ChEBI:CHEBI:17898, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.1.1.300; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:25035; Evidence=; Reaction=H(+) + isatin + NADPH = 3-hydroxyindolin-2-one + NADP(+); Xref=Rhea:RHEA:68608, ChEBI:CHEBI:15378, ChEBI:CHEBI:27539, ChEBI:CHEBI:28536, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:68609; Evidence=; Homotetramer. Peroxisome The C-terminus peroxisomal targeting signal tripeptide is important for peroxisomal import. Once in the peroxisome, it is involved in intersubunit interactions. Three specific residues, Phe-177, Leu-180 and Asn-196 are conserved between non-primate mammals whereas the respective residues are serine, phenylalanine and threonine in primates. The two residues at positions 177 and 180 are molecular determinants responsible for the stereoselective reduction of 3-ketosteroids and benzil. The presence of an asparagine at position 196 is important for the maintenance of the quaternary structure resulting in stability at cold temperature and improved catalytic activity toward retinal. Primate DHRS4s display different stereoselectivity and catalytic efficiency in the oxidoreduction of some substrates as compared to other mammal DHRS4s due to a difference in conserved amino acid residues. Belongs to the short-chain dehydrogenases/reductases (SDR) family. Sequence=AAH03484.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAB18776.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; 3-keto sterol reductase activity retinal dehydrogenase activity carbonyl reductase (NADPH) activity nucleus mitochondrion peroxisome peroxisomal membrane alcohol metabolic process steroid metabolic process oxidoreductase activity oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor alcohol dehydrogenase [NAD(P)+] activity cellular ketone metabolic process retinal metabolic process protein tetramerization oxidation-reduction process uc007tym.1 uc007tym.2 uc007tym.3 
ENSMUST00000022826.7 Fitm1 ENSMUST00000022826.7 fat storage-inducing transmembrane protein 1 (from RefSeq NM_026808.1) ENSMUST00000022826.1 ENSMUST00000022826.2 ENSMUST00000022826.3 ENSMUST00000022826.4 ENSMUST00000022826.5 ENSMUST00000022826.6 FITM1_MOUSE Fit1 Fitm1 NM_026808 Q80ZL0 Q8CI63 Q91V79 Q9CTD0 uc007tzc.1 uc007tzc.2 uc007tzc.3 Plays an important role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (PubMed:18160536, PubMed:22106267) (By similarity). Directly binds to diacylglycerol (DAGs) and triacylglycerol (PubMed:22106267) (By similarity). Endoplasmic reticulum membrane ulti-pass membrane protein Predominantly expressed in skeletal muscle and at lower levels in the heart (at protein level). In the heart, mRNA expression levels do not correlate well with protein levels, suggesting post-transcriptional regulation in this organ. Knockout mice show no significant differences in heart size or function. Belongs to the FIT family. FIT1 subfamily. Sequence=AAH37188.1; Type=Erroneous initiation; Evidence=; endoplasmic reticulum endoplasmic reticulum membrane phospholipid biosynthetic process positive regulation of sequestering of triglyceride membrane integral component of membrane lipid storage integral component of endoplasmic reticulum membrane lipid particle organization uc007tzc.1 uc007tzc.2 uc007tzc.3 
ENSMUST00000022828.9 Emc9 ENSMUST00000022828.9 ER membrane protein complex subunit 9, transcript variant 1 (from RefSeq NM_033146.2) Cgi112 EMC9_MOUSE ENSMUST00000022828.1 ENSMUST00000022828.2 ENSMUST00000022828.3 ENSMUST00000022828.4 ENSMUST00000022828.5 ENSMUST00000022828.6 ENSMUST00000022828.7 ENSMUST00000022828.8 Fam158a NM_033146 Q9DB76 uc007tze.1 uc007tze.2 uc007tze.3 Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins. Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues. Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices. It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes. By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N- exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors. By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes. Component of the ER membrane protein complex (EMC). EMC8 and EMC9 are mutually exclusive subunits of the EMC complex. Endoplasmic reticulum membrane ; Peripheral membrane protein ; Cytoplasmic side Belongs to the EMC8/EMC9 family. cytoplasm ER membrane protein complex uc007tze.1 uc007tze.2 uc007tze.3 
ENSMUST00000022830.14 Ripk3 ENSMUST00000022830.14 receptor-interacting serine-threonine kinase 3, transcript variant 1 (from RefSeq NM_019955.2) ENSMUST00000022830.1 ENSMUST00000022830.10 ENSMUST00000022830.11 ENSMUST00000022830.12 ENSMUST00000022830.13 ENSMUST00000022830.2 ENSMUST00000022830.3 ENSMUST00000022830.4 ENSMUST00000022830.5 ENSMUST00000022830.6 ENSMUST00000022830.7 ENSMUST00000022830.8 ENSMUST00000022830.9 G3X8V8 NM_019955 Q3U3Z9 Q8K2Y2 Q9QZL0 RIPK3_MOUSE Rip3 Ripk3 uc007uav.1 uc007uav.2 uc007uav.3 uc007uav.4 Serine/threonine-protein kinase that activates necroptosis and apoptosis, two parallel forms of cell death (PubMed:27321907, PubMed:27746097, PubMed:27917412, PubMed:28607035, PubMed:32200799, PubMed:32296175). Necroptosis, a programmed cell death process in response to death-inducing TNF-alpha family members, is triggered by RIPK3 following activation by ZBP1 (PubMed:19590578, PubMed:22423968, PubMed:24012422, PubMed:24019532, PubMed:24557836, PubMed:27746097, PubMed:27819681, PubMed:27819682, PubMed:24095729, PubMed:32200799, PubMed:27321907, PubMed:32296175). Activated RIPK3 forms a necrosis- inducing complex and mediates phosphorylation of MLKL, promoting MLKL localization to the plasma membrane and execution of programmed necrosis characterized by calcium influx and plasma membrane damage (PubMed:24813849, PubMed:24813850, PubMed:27321907). In addition to TNF-induced necroptosis, necroptosis can also take place in the nucleus in response to orthomyxoviruses infection: following ZBP1 activation, which senses double-stranded Z-RNA structures, nuclear RIPK3 catalyzes phosphorylation and activation of MLKL, promoting disruption of the nuclear envelope and leakage of cellular DNA into the cytosol (PubMed:32200799, PubMed:32296175). Also regulates apoptosis: apoptosis depends on RIPK1, FADD and CASP8, and is independent of MLKL and RIPK3 kinase activity (PubMed:27321907). Phosphorylates RIPK1: RIPK1 and RIPK3 undergo reciprocal auto- and trans-phosphorylation (By similarity). In some cell types, also able to restrict viral replication by promoting cell death-independent responses (PubMed:30635240). In response to flavivirus infection in neurons, promotes a cell death-independent pathway that restricts viral replication: together with ZBP1, promotes a death-independent transcriptional program that modifies the cellular metabolism via up- regulation expression of the enzyme ACOD1/IRG1 and production of the metabolite itaconate (PubMed:30635240). Itaconate inhibits the activity of succinate dehydrogenase, generating a metabolic state in neurons that suppresses replication of viral genomes (PubMed:30635240). RIPK3 binds to and enhances the activity of three metabolic enzymes: GLUL, GLUD1, and PYGL (By similarity). These metabolic enzymes may eventually stimulate the tricarboxylic acid cycle and oxidative phosphorylation, which could result in enhanced ROS production (By similarity). Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl- [protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA- COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence= Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L- threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1; Evidence= Activity is stimulated by ZBP1, which senses double-stranded Z-RNA structures (PubMed:32200799, PubMed:32296175). RIPK3-dependent necroptosis is inhibited by RIPK1: RIPK1 prevents the ZBP1-induced activation of RIPK3 via FADD-mediated recruitment of CASP8, which cleaves RIPK1 and limits TNF-induced necroptosis (PubMed:24813849, PubMed:24813850, PubMed:24557836, PubMed:27321907, PubMed:27819681, PubMed:27819682, PubMed:32296175). Inhibited by type II inhibitor 1-(4-fluorophenyl)-N-[3-fluoro-4-(1H-pyrrolo[2,3- b]pyridin-4-yloxy)phenyl]-2-oxo-1,2-dihydropyridine-3-carboxamide (PubMed:32184955). Interacts (via RIP homotypic interaction motif) with RIPK1 (via RIP homotypic interaction motif); this interaction induces RIPK1 phosphorylation and formation of a RIPK1-RIPK3 necrosis-inducing complex (PubMed:27321907, PubMed:27819681, PubMed:28842570, PubMed:31519887). Interacts with MLKL; the interaction is direct and triggers necroptosis (PubMed:24012422, PubMed:27321907). Interacts with ZBP1 (via RIP homotypic interaction motif); interaction with ZBP1 activates RIPK3, triggering necroptosis (PubMed:19590578, PubMed:22423968, PubMed:27746097, PubMed:27819681, PubMed:27819682, PubMed:28607035, PubMed:32200799). Upon TNF-induced necrosis, the RIPK1-RIPK3 dimer further interacts with PGAM5 and MLKL; the formation of this complex leads to PGAM5 phosphorylation and increase in PGAM5 phosphatase activity (By similarity). Binds TRAF2 and is recruited to the TNFR-1 signaling complex (By similarity). Interacts with PYGL, GLUL and GLUD1; these interactions result in activation of these metabolic enzymes (By similarity). Interacts with BIRC2/c-IAP1, BIRC3/c-IAP2 and XIAP/BIRC4 (By similarity). Interacts with ARHGEF2 (By similarity). Interacts with PELI1 (via atypical FHA domain); the phosphorylated form at Thr-187 binds preferentially to PELI1 (PubMed:29883609). Interacts with BUB1B, TRAF2 and STUB1 (By similarity). Interacts with CASP6 (By similarity). Component of the AIM2 PANoptosome complex, a multiprotein complex that drives inflammatory cell death (PANoptosis) (PubMed:34471287). (Microbial infection) Interacts (via RIP homotypic interaction motif) with murid herpesvirus protein RIR1; this interaction disrupts RIP3-RIP1 interactions characteristic of TNF-alpha induced necroptosis, thereby suppressing this death pathway. Q9QZL0; Q61160: Fadd; NbExp=6; IntAct=EBI-2367423, EBI-524415; Q9QZL0; Q9D2Y4: Mlkl; NbExp=3; IntAct=EBI-2367423, EBI-5401970; Q9QZL0; Q60855: Ripk1; NbExp=4; IntAct=EBI-2367423, EBI-529119; Q9QZL0; Q9UER7: DAXX; Xeno; NbExp=2; IntAct=EBI-2367423, EBI-77321; Cytoplasm, cytosol cleus te=Mainly cytoplasmic (PubMed:32200799, PubMed:32296175). Present in the nucleus in response to influenza A virus (IAV) infection (PubMed:32200799). Expressed in embryo and in adult spleen, liver, testis, heart, brain and lung. The RIP homotypic interaction motif (RHIM) mediates interaction with the RHIM motif of RIPK1. Both motifs form a hetero-amyloid serpentine fold, stabilized by hydrophobic packing and featuring an unusual Cys-Ser ladder of alternating Ser (from RIPK1) and Cys (from RIPK3). RIPK1 and RIPK3 undergo reciprocal auto- and trans-phosphorylation (By similarity). Autophosphorylated following interaction with ZBP1 (PubMed:27819681). Phosphorylation of Ser-204 plays a role in the necroptotic function of RIPK3 (By similarity). Autophosphorylates at Thr-231 and Ser-232 following activation by ZBP1: phosphorylation at these sites is a hallmark of necroptosis and is required for binding MLKL (PubMed:23612963, PubMed:27819682). Phosphorylation at Thr-187 is important for its kinase activity, interaction with PELI1 and for its ability to mediate TNF-induced necroptosis (By similarity). Polyubiquitinated with 'Lys-48' and 'Lys-63'-linked chains by BIRC2/c-IAP1 and BIRC3/c-IAP2, leading to activation of NF-kappa-B. Ubiquitinated by STUB1 leading to its subsequent proteasome-dependent degradation. No visible phenotype in normal conditions; mice are viable and indistinguishable from wild-type mice (PubMed:14749364, PubMed:24557836). Mice are resistant to TNF-induced hypothermia (PubMed:24557836). Mice are more susceptible to influenza A virus (IAV) infection than wild-type mice: at a modestly lethal dose of IAV, mice display significantly increased rates of mortality, probably caused by a failure to eliminate infected cells and limit virus spread in pulmonary tissue (PubMed:27321907, PubMed:32200799). Perinatal lethality observed in Ripk1 knockout mice is rescued in knockout mice lacking both Ripk1 and Ripk3; mice however die the first days of postnatal life (PubMed:24813849, PubMed:24813850, PubMed:27819681, PubMed:27819682). Only mice lacking Ripk1, Ripk3 and Casp8 survive past weaning and rescue lethality caused by the absence of Ripk1 (PubMed:24813849, PubMed:24813850). Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. nucleotide binding regulation of T cell mediated cytotoxicity regulation of adaptive immune response protein kinase activity protein serine/threonine kinase activity NF-kappaB-inducing kinase activity protein binding ATP binding cytoplasm mitochondrion cytosol plasma membrane protein phosphorylation I-kappaB kinase/NF-kappaB signaling positive regulation of phosphatase activity positive regulation of necrotic cell death programmed cell death membrane viral process kinase activity phosphorylation transferase activity activation of protein kinase activity regulation of interferon-gamma production T cell differentiation in thymus NIK/NF-kappaB signaling identical protein binding T cell homeostasis macromolecular complex binding regulation of activated T cell proliferation protein autophosphorylation lymph node development spleen development thymus development positive regulation of NF-kappaB transcription factor activity protein homooligomerization protein heterooligomerization positive regulation of ligase activity positive regulation of oxidoreductase activity positive regulation of necroptotic process regulation of activation-induced cell death of T cells necroptotic process cellular response to hydrogen peroxide programmed necrotic cell death amyloid fibril formation regulation of reactive oxygen species metabolic process positive regulation of reactive oxygen species metabolic process regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation positive regulation of intrinsic apoptotic signaling pathway uc007uav.1 uc007uav.2 uc007uav.3 uc007uav.4 
ENSMUST00000022831.5 Khnyn ENSMUST00000022831.5 KH and NYN domain containing, transcript variant 1 (from RefSeq NM_027143.3) ENSMUST00000022831.1 ENSMUST00000022831.2 ENSMUST00000022831.3 ENSMUST00000022831.4 KHNYN_MOUSE Kiaa0323 NM_027143 Q14B94 Q80U38 Q8BGJ6 Q8C082 uc007ubb.1 uc007ubb.2 uc007ubb.3 This gene encodes a protein with a C-terminal RNA modifying domain that belongs to a family of ribonucleases typified by eukaryotic Nedd4-binding protein1 and the bacterial YacP-like nucleases (NYN). The NYN domain shares a common protein fold with two other groups of nucleases, the PilT N-terminal nuclease and FLAP nuclease superfamilies. In addition to the NYN domain, the protein encoded by this gene also contains an N-terminal K homology RNA-binding domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]. Belongs to the N4BP1 family. Sequence=BAC27665.1; Type=Frameshift; Evidence=; Sequence=BAC65529.1; Type=Erroneous initiation; Evidence=; molecular_function cellular_component biological_process uc007ubb.1 uc007ubb.2 uc007ubb.3 
ENSMUST00000022836.6 Mcpt1 ENSMUST00000022836.6 mast cell protease 1 (from RefSeq NM_008570.1) ENSMUST00000022836.1 ENSMUST00000022836.2 ENSMUST00000022836.3 ENSMUST00000022836.4 ENSMUST00000022836.5 Mcpt1 NM_008570 Q496V0 Q496V0_MOUSE uc007ubi.1 uc007ubi.2 uc007ubi.3 serine-type endopeptidase activity proteolysis peptidase activity serine-type peptidase activity hydrolase activity uc007ubi.1 uc007ubi.2 uc007ubi.3 
ENSMUST00000022842.16 Cct5 ENSMUST00000022842.16 chaperonin containing TCP1 subunit 5, transcript variant 1 (from RefSeq NM_007637.3) Ccte ENSMUST00000022842.1 ENSMUST00000022842.10 ENSMUST00000022842.11 ENSMUST00000022842.12 ENSMUST00000022842.13 ENSMUST00000022842.14 ENSMUST00000022842.15 ENSMUST00000022842.2 ENSMUST00000022842.3 ENSMUST00000022842.4 ENSMUST00000022842.5 ENSMUST00000022842.6 ENSMUST00000022842.7 ENSMUST00000022842.8 ENSMUST00000022842.9 Kiaa0098 NM_007637 P80316 Q3TIE0 Q3U530 Q3UCU4 Q3UJK9 Q3UWA9 Q542K3 Q6ZQJ1 TCPE_MOUSE uc007vkj.1 uc007vkj.2 uc007vkj.3 Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. The TRiC complex mediates the folding of WRAP53/TCAB1, thereby regulating telomere maintenance. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. The TRiC complex plays a role in the folding of actin and tubulin. Component of the chaperonin-containing T-complex (TRiC), a heterooligomeric complex of about 850 to 900 kDa that forms two stacked rings, 12 to 16 nm in diameter. Interacts with PACRG (By similarity). Interacts with DNAAF4 (PubMed:23872636). Interacts with DLEC1 (By similarity). Interacts with SPMAP2 (PubMed:10747865). P80316; Q9JMB1: Spmap2; NbExp=2; IntAct=EBI-772379, EBI-1390549; Cytoplasm Cytoplasm, cytoskeleton, microtubule organizing center, centrosome The N-terminus is blocked. Ubiquitinated by the DCX(DCAF12) complex specifically recognizes the diglutamate (Glu-Glu) at the C-terminus, leading to its degradation. Belongs to the TCP-1 chaperonin family. Sequence=BAC97866.1; Type=Erroneous initiation; Evidence=; nucleotide binding mRNA 3'-UTR binding protein binding ATP binding nucleolus cytoplasm centrosome microtubule organizing center cytosol chaperonin-containing T-complex cytoskeleton microtubule protein folding binding of sperm to zona pellucida response to virus G-protein beta-subunit binding positive regulation of telomere maintenance via telomerase myelin sheath cell body mRNA 5'-UTR binding beta-tubulin binding protein stabilization unfolded protein binding toxin transport positive regulation of establishment of protein localization to telomere uc007vkj.1 uc007vkj.2 uc007vkj.3 
ENSMUST00000022849.7 Tars1 ENSMUST00000022849.7 threonyl-tRNA synthetase 1 (from RefSeq NM_033074.3) ENSMUST00000022849.1 ENSMUST00000022849.2 ENSMUST00000022849.3 ENSMUST00000022849.4 ENSMUST00000022849.5 ENSMUST00000022849.6 NM_033074 Q3TL42 Q7TMQ2 Q8BMI6 Q9CX03 Q9D0R2 SYTC_MOUSE Tars uc007vhc.1 uc007vhc.2 uc007vhc.3 Catalyzes the attachment of threonine to tRNA(Thr) in a two- step reaction: threonine is first activated by ATP to form Thr-AMP and then transferred to the acceptor end of tRNA(Thr). Also edits incorrectly charged tRNA(Thr) via its editing domain, at the post- transfer stage. Reaction=ATP + L-threonine + tRNA(Thr) = AMP + diphosphate + H(+) + L- threonyl-tRNA(Thr); Xref=Rhea:RHEA:24624, Rhea:RHEA-COMP:9670, Rhea:RHEA-COMP:9704, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:57926, ChEBI:CHEBI:78442, ChEBI:CHEBI:78534, ChEBI:CHEBI:456215; EC=6.1.1.3; Evidence=; Kinetic parameters: KM=0.74 uM for tRNA(Thr) ; KM=0.30 mM for L-threonine ; Homodimer. Cytoplasm ISGylated. Belongs to the class-II aminoacyl-tRNA synthetase family. nucleotide binding aminoacyl-tRNA ligase activity threonine-tRNA ligase activity ATP binding cytoplasm cytosol translation tRNA aminoacylation for protein translation threonyl-tRNA aminoacylation actin cytoskeleton ligase activity tRNA aminoacylation uc007vhc.1 uc007vhc.2 uc007vhc.3 
ENSMUST00000022853.15 C1qtnf3 ENSMUST00000022853.15 C1q and tumor necrosis factor related protein 3, transcript variant 2 (from RefSeq NM_030888.4) C1QT3_MOUSE Cors26 Ctrp3 ENSMUST00000022853.1 ENSMUST00000022853.10 ENSMUST00000022853.11 ENSMUST00000022853.12 ENSMUST00000022853.13 ENSMUST00000022853.14 ENSMUST00000022853.2 ENSMUST00000022853.3 ENSMUST00000022853.4 ENSMUST00000022853.5 ENSMUST00000022853.6 ENSMUST00000022853.7 ENSMUST00000022853.8 ENSMUST00000022853.9 NM_030888 Q9ES30 uc007vgu.1 uc007vgu.2 uc007vgu.3 uc007vgu.4 Secreted extracellular region collagen trimer extracellular space cell negative regulation of gene expression macromolecular complex cellular triglyceride homeostasis glucose homeostasis identical protein binding negative regulation of gluconeogenesis positive regulation of cytokine secretion negative regulation of inflammatory response positive regulation of protein kinase B signaling positive regulation of adiponectin secretion protein trimerization positive regulation of ERK1 and ERK2 cascade negative regulation of monocyte chemotactic protein-1 production negative regulation of interleukin-6 secretion negative regulation of NIK/NF-kappaB signaling uc007vgu.1 uc007vgu.2 uc007vgu.3 uc007vgu.4 
ENSMUST00000022855.12 Brix1 ENSMUST00000022855.12 BRX1, biogenesis of ribosomes (from RefSeq NM_026396.3) BRX1_MOUSE Brix Bxdc2 ENSMUST00000022855.1 ENSMUST00000022855.10 ENSMUST00000022855.11 ENSMUST00000022855.2 ENSMUST00000022855.3 ENSMUST00000022855.4 ENSMUST00000022855.5 ENSMUST00000022855.6 ENSMUST00000022855.7 ENSMUST00000022855.8 ENSMUST00000022855.9 NM_026396 Q3THD3 Q91YS6 Q9DCA5 uc007vgg.1 uc007vgg.2 uc007vgg.3 Required for biogenesis of the 60S ribosomal subunit. Nucleus, nucleolus Belongs to the BRX1 family. Sequence=AAH14832.1; Type=Erroneous initiation; Evidence=; Sequence=BAB22497.1; Type=Erroneous initiation; Evidence=; ribosomal large subunit assembly nucleus nucleolus ribosome biogenesis uc007vgg.1 uc007vgg.2 uc007vgg.3 
ENSMUST00000022856.15 Rad1 ENSMUST00000022856.15 RAD1 checkpoint DNA exonuclease, transcript variant 1 (from RefSeq NM_011232.4) ENSMUST00000022856.1 ENSMUST00000022856.10 ENSMUST00000022856.11 ENSMUST00000022856.12 ENSMUST00000022856.13 ENSMUST00000022856.14 ENSMUST00000022856.2 ENSMUST00000022856.3 ENSMUST00000022856.4 ENSMUST00000022856.5 ENSMUST00000022856.6 ENSMUST00000022856.7 ENSMUST00000022856.8 ENSMUST00000022856.9 NM_011232 O70452 O88391 Q3TGU1 Q3UG66 Q9QWZ1 Q9QWZ3 RAD1_MOUSE Rec1 uc007vgh.1 uc007vgh.2 uc007vgh.3 uc007vgh.4 Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3'-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths; and DNA ligase I (LIG1) on long-patch base excision repair substrates. The 9-1-1 complex is necessary for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase. Component of the toroidal 9-1-1 (RAD9-RAD1-HUS1) complex, composed of RAD9A, RAD1 and HUS1. The 9-1-1 complex associates with LIG1, POLB, FEN1, RAD17, HDAC1, RPA1 and RPA2. The 9-1-1 complex associates with the RAD17-RFC complex. RAD1 interacts with POLB, FEN1, HUS1, HUS1B, RAD9A and RAD9B. Interacts with DNAJC7. Interacts with RHNO1; interaction is direct. Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9QWZ1-1; Sequence=Displayed; Name=2; IsoId=Q9QWZ1-2; Sequence=VSP_017337; Expressed in testis, uterus, bladder, spleen, ovaries, lung, brain and muscle (at protein level). Expressed in brain, testis, kidney, heart, liver and lung. Belongs to the rad1 family. DNA damage checkpoint nuclease activity exonuclease activity nucleus nucleoplasm chromosome DNA repair cellular response to DNA damage stimulus 3'-5' exonuclease activity exodeoxyribonuclease III activity hydrolase activity checkpoint clamp complex intracellular membrane-bounded organelle meiotic recombination checkpoint cellular response to ionizing radiation nucleic acid phosphodiester bond hydrolysis uc007vgh.1 uc007vgh.2 uc007vgh.3 uc007vgh.4 
ENSMUST00000022857.14 Ttc23l ENSMUST00000022857.14 tetratricopeptide repeat domain 23-like, transcript variant 1 (from RefSeq NM_029430.1) A3KMM7 A6H6E9 ENSMUST00000022857.1 ENSMUST00000022857.10 ENSMUST00000022857.11 ENSMUST00000022857.12 ENSMUST00000022857.13 ENSMUST00000022857.2 ENSMUST00000022857.3 ENSMUST00000022857.4 ENSMUST00000022857.5 ENSMUST00000022857.6 ENSMUST00000022857.7 ENSMUST00000022857.8 ENSMUST00000022857.9 NM_029430 Q9D5Q3 TT23L_MOUSE uc007vgj.1 uc007vgj.2 uc007vgj.3 Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, spindle Midbody Note=Exhibits dynamic subcellular localization during the cell cycle. In prophase cells, detected on split centrosomes. Translocates to the mitotic spindles during metaphase and early anaphase, then to the midbody and cleavage furrow in late anaphase. Sequence=AAI32385.1; Type=Erroneous initiation; Evidence=; Sequence=BAB29682.1; Type=Erroneous initiation; Evidence=; cellular_component cytoplasm microtubule organizing center spindle cytoskeleton biological_process midbody uc007vgj.1 uc007vgj.2 uc007vgj.3 
ENSMUST00000022861.9 Ugt3a2 ENSMUST00000022861.9 UDP glycosyltransferases 3 family, polypeptide A1 (from RefSeq NM_207216.2) ENSMUST00000022861.1 ENSMUST00000022861.2 ENSMUST00000022861.3 ENSMUST00000022861.4 ENSMUST00000022861.5 ENSMUST00000022861.6 ENSMUST00000022861.7 ENSMUST00000022861.8 NM_207216 Q3UP75 Q8R0Y5 UD3A1_MOUSE Ugt3a1 uc007vfk.1 uc007vfk.2 uc007vfk.3 uc007vfk.4 uc007vfk.5 UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity). Reaction=glucuronate acceptor + UDP-alpha-D-glucuronate = acceptor beta-D-glucuronoside + H(+) + UDP; Xref=Rhea:RHEA:21032, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132367, ChEBI:CHEBI:132368; EC=2.4.1.17; Membrane ; Single-pass type I membrane protein Highly expressed in kidney, while it is expressed at low levels in liver. Not detected in other tissues examined. Belongs to the UDP-glycosyltransferase family. UDP-glycosyltransferase activity glucuronosyltransferase activity membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups transferase activity, transferring hexosyl groups intracellular membrane-bounded organelle UDP-N-acetylglucosamine transferase complex cellular response to genistein uc007vfk.1 uc007vfk.2 uc007vfk.3 uc007vfk.4 uc007vfk.5 
ENSMUST00000022865.17 Mtdh ENSMUST00000022865.17 metadherin, transcript variant 3 (from RefSeq NM_026002.5) B2RSG8 ENSMUST00000022865.1 ENSMUST00000022865.10 ENSMUST00000022865.11 ENSMUST00000022865.12 ENSMUST00000022865.13 ENSMUST00000022865.14 ENSMUST00000022865.15 ENSMUST00000022865.16 ENSMUST00000022865.2 ENSMUST00000022865.3 ENSMUST00000022865.4 ENSMUST00000022865.5 ENSMUST00000022865.6 ENSMUST00000022865.7 ENSMUST00000022865.8 ENSMUST00000022865.9 LYRIC_MOUSE Lyric NM_026002 Q05CM0 Q3U9F8 Q3UAQ8 Q80WJ7 Q8BN67 Q8CBT9 Q8CDL0 Q8CGI7 Q9D052 uc007vlh.1 uc007vlh.2 uc007vlh.3 Down-regulates SLC1A2/EAAT2 promoter activity when expressed ectopically. Activates the nuclear factor kappa-B (NF-kappa-B) transcription factor. Promotes anchorage-independent growth of immortalized melanocytes and astrocytes which is a key component in tumor cell expansion. Promotes lung metastasis and also has an effect on bone and brain metastasis, possibly by enhancing the seeding of tumor cells to the target organ endothelium. Induces chemoresistance (By similarity). Interacts with BCCIP, CREBBP/CBP and RELA/p65. Q80WJ7; Q78PY7: Snd1; NbExp=4; IntAct=EBI-774530, EBI-529864; Endoplasmic reticulum membrane ; Single-pass membrane protein Nucleus membrane ; Single-pass membrane protein Cell junction, tight junction Nucleus, nucleolus Cytoplasm, perinuclear region Note=In epithelial cells, recruited to tight junctions (TJ) during the maturation of the TJ complexes. A nucleolar staining may be due to nuclear targeting of an isoform lacking the transmembrane domain. TNF- alpha causes translocation from the cytoplasm to the nucleus (By similarity). In the mammary gland, expressed at the apical surface of epithelial cells lining ducts, as well as in the mammary fat pad. Not detected in the spleen, kidney, lung, or skin; minute amounts seen in the liver. Expressed in Purkinje neurons in the early postnatal and adult cerebellum. Overexpressed in mammary tumors (at protein level). Was originally thought to be a type II membrane protein but this is inconsistent with the results of multiple phosphorylation studies because this topology would locate the phosphorylation sites in the lumen or extracellularly rather than in the cytoplasm. negative regulation of transcription from RNA polymerase II promoter RNA polymerase II transcription factor binding fibrillar center transcription coactivator activity double-stranded RNA binding protein binding nucleus nucleolus cytoplasm endoplasmic reticulum endoplasmic reticulum membrane bicellular tight junction positive regulation of autophagy membrane integral component of membrane apical plasma membrane nuclear body cell junction lipopolysaccharide-mediated signaling pathway nuclear membrane negative regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of angiogenesis intercellular canaliculus perinuclear region of cytoplasm NF-kappaB binding positive regulation of NF-kappaB transcription factor activity positive regulation of protein kinase B signaling bicellular tight junction assembly positive regulation of nucleic acid-templated transcription uc007vlh.1 uc007vlh.2 uc007vlh.3 
ENSMUST00000022867.5 Laptm4b ENSMUST00000022867.5 lysosomal-associated protein transmembrane 4B (from RefSeq NM_033521.4) ENSMUST00000022867.1 ENSMUST00000022867.2 ENSMUST00000022867.3 ENSMUST00000022867.4 LAP4B_MOUSE Laptm4b NM_033521 Q91XQ6 uc007vlj.1 uc007vlj.2 uc007vlj.3 Required for optimal lysosomal function. Blocks EGF- stimulated EGFR intraluminal sorting and degradation. Conversely by binding with the phosphatidylinositol 4,5-bisphosphate, regulates its PIP5K1C interaction, inhibits HGS ubiquitination and relieves LAPTM4B inhibition of EGFR degradation. Recruits SLC3A2 and SLC7A5 (the Leu transporter) to the lysosome, promoting entry of leucine and other essential amino acid (EAA) into the lysosome, stimulating activation of proton-transporting vacuolar (V)-ATPase protein pump (V-ATPase) and hence mTORC1 activation. Plays a role as negative regulator of TGFB1 production in regulatory T cells. Binds ceramide and facilitates its exit from late endosome in order to control cell death pathways. Homooligomer; upon reaching the lysosomes. Interacts with MCOLN1. Interacts with NEDD4; may play a role in the lysosomal sorting of LAPTM4B; enhances HGS association with NEDD4; mediates inhibition of EGFR degradation. Interacts with PIP5K1C; promotes SNX5 association with LAPTM4B; kinase activity of PIP5K1C is required; interaction is regulated by phosphatidylinositol 4,5-bisphosphate generated by PIP5K1C. Interacts with HGS; promotes HGS ubiquitination. Interacts with SNX5. Interacts with SLC3A2 and SLC7A5; recruits SLC3A2 and SLC7A5 to lysosomes to promote leucine uptake into these organelles and is required for mTORC1 activation. Interacts with LRRC32; decreases TGFB1 production in regulatory T cells. Interacts with BECN1; competes with EGFR for LAPTM4B binding; regulates EGFR activity. Interacts with EGFR; positively correlates with EGFR activation. Endomembrane system ; Multi-pass membrane protein Late endosome membrane Cell membrane Cell projection Lysosome membrane Endosome membrane Endosome, multivesicular body membrane Endosome, multivesicular body lumen Undergoes proteolytic cleavage following delivery to the lysosomes. Ubiquitinated by NEDD4. Belongs to the LAPTM4/LAPTM5 transporter family. lysosome lysosomal membrane endosome early endosome plasma membrane endosome organization endosome membrane endomembrane system membrane integral component of membrane kinase binding ubiquitin protein ligase binding late endosome membrane endosome transport via multivesicular body sorting pathway multivesicular body membrane negative regulation of transforming growth factor beta1 production cell projection ceramide binding regulation of lysosomal membrane permeability multivesicular body, internal vesicle phosphatidylinositol bisphosphate binding negative regulation of lysosomal protein catabolic process regulation of lysosome organization uc007vlj.1 uc007vlj.2 uc007vlj.3 
ENSMUST00000022871.7 Sdc2 ENSMUST00000022871.7 syndecan 2 (from RefSeq NM_008304.2) ENSMUST00000022871.1 ENSMUST00000022871.2 ENSMUST00000022871.3 ENSMUST00000022871.4 ENSMUST00000022871.5 ENSMUST00000022871.6 Hspg1 NM_008304 P43407 SDC2_MOUSE Synd2 uc007vkx.1 uc007vkx.2 uc007vkx.3 Cell surface proteoglycan which regulates dendritic arbor morphogenesis. Interacts (via cytoplasmic domain) with SARM1 (PubMed:21555464). Forms a complex with SDCBP and PDCD6IP (By similarity). P43407; Q15113: PCOLCE; Xeno; NbExp=4; IntAct=EBI-11578890, EBI-8869614; Membrane; Single-pass type I membrane protein. Preferential expression in cells of mesenchymal origin. O-glycosylated; contains both heparan sulfate and chondroitin sulfate. Phosphorylated on serine residues. Belongs to the syndecan proteoglycan family. protein binding Golgi lumen nervous system development cell surface membrane integral component of membrane cell migration cell differentiation PDZ domain binding identical protein binding neuronal cell body synapse dendrite morphogenesis regulation of dendrite morphogenesis uc007vkx.1 uc007vkx.2 uc007vkx.3 
ENSMUST00000022875.7 Ank ENSMUST00000022875.7 progressive ankylosis (from RefSeq NM_020332.4) ANKH_MOUSE Ankh ENSMUST00000022875.1 ENSMUST00000022875.2 ENSMUST00000022875.3 ENSMUST00000022875.4 ENSMUST00000022875.5 ENSMUST00000022875.6 NM_020332 O35138 O35139 Q9JHZ2 uc007vjo.1 uc007vjo.2 uc007vjo.3 uc007vjo.4 Transports adenosine triphosphate (ATP) and possibly other nucleoside triphosphates (NTPs) from cytosol to the extracellular space. Mainly regulates their levels locally in peripheral tissues while playing a minor systemic role. Prevents abnormal ectopic mineralization of the joints by regulating the extracellular levels of the calcification inhibitor inorganic pyrophosphate (PPi), which originates from the conversion of extracellular NTPs to NMPs and PPis by ENPP1. Regulates the release of the TCA cycle intermediates to the extracellular space, in particular citrate, succinate and malate. Extracellular citrate mostly present in bone tissue is required for osteogenic differentiation of mesenchymal stem cells, stabilization of hydroxyapatite structure and overall bone strength. The transport mechanism remains to be elucidated. Reaction=ATP(in) = ATP(out); Xref=Rhea:RHEA:75687, ChEBI:CHEBI:30616; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:75688; Evidence=; Reaction=citrate(in) = citrate(out); Xref=Rhea:RHEA:33183, ChEBI:CHEBI:16947; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:33184; Evidence=; Cell membrane ; Multi-pass membrane protein Expressed in heart, brain, liver, spleen, lung, muscle, and kidney of adult animals. Strongly expressed in the developing articular cartilage of joints in the shoulder, elbow, wrist, and digits of the embryo. Note=Defects in Ankh are the cause of a generalized, progressive form of arthritis. In ank mice hydroxyapatite crystals develop in articular surfaces and synovial fluid leading to joint space narrowing, cartilage erosion, and formation of bony outgrowths or osteophytes that cause fusion and joint immobility and destruction. Mutant mice develop early-onset osteopenia in long bones associated with diminished bone strength. They show widespread calcification of soft connective tissues due to almost absence of PPi in plasma. Belongs to the ANKH family. inorganic phosphate transmembrane transporter activity plasma membrane integral component of plasma membrane phosphate ion transport phosphate ion transmembrane transporter activity membrane integral component of membrane regulation of bone mineralization inorganic diphosphate transmembrane transporter activity inorganic diphosphate transport phosphate ion transmembrane transport uc007vjo.1 uc007vjo.2 uc007vjo.3 uc007vjo.4 
ENSMUST00000022890.10 Rnf19a ENSMUST00000022890.10 ring finger protein 19A, transcript variant 1 (from RefSeq NM_013923.2) ENSMUST00000022890.1 ENSMUST00000022890.2 ENSMUST00000022890.3 ENSMUST00000022890.4 ENSMUST00000022890.5 ENSMUST00000022890.6 ENSMUST00000022890.7 ENSMUST00000022890.8 ENSMUST00000022890.9 Geg-154 NM_013923 P50636 Q3UGT2 Q9QUJ5 RN19A_MOUSE Rnf19 Xybp uc007vmq.1 uc007vmq.2 uc007vmq.3 E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR. Reaction=[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + [acceptor protein]-N(6)-ubiquitinyl-L-lysine.; EC=2.3.2.31; Evidence=; Protein modification; protein ubiquitination. Interacts with UBE2L3 and UBE2L6. Also interacts with transcription factor Sp1. Interacts with SNCAIP and CASR (By similarity). Interacts with VCP. P50636; Q9Z0P7: Sufu; NbExp=3; IntAct=EBI-3508340, EBI-3508336; Membrane ; Multi-pass membrane protein Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Note=Expressed primarily in the XY body of pachytene spermatocytes and in the centrosome of somatic and germ cells in all phases of the cell cycle. Preferentially expressed in both sexes during gametogenesis. Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT- type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain. Belongs to the RBR family. RNF19 subfamily. Sequence=CAA50643.1; Type=Frameshift; Evidence=; ubiquitin ligase complex protein polyubiquitination ubiquitin-protein transferase activity protein binding cytoplasm microtubule organizing center cytoskeleton ubiquitin-dependent protein catabolic process membrane integral component of membrane protein ubiquitination transferase activity ubiquitin conjugating enzyme binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process metal ion binding ubiquitin protein ligase activity postsynapse glutamatergic synapse regulation of protein catabolic process at postsynapse, modulating synaptic transmission uc007vmq.1 uc007vmq.2 uc007vmq.3 
ENSMUST00000022894.14 Ywhaz ENSMUST00000022894.14 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide, transcript variant 1 (from RefSeq NM_011740.3) 1433Z_MOUSE ENSMUST00000022894.1 ENSMUST00000022894.10 ENSMUST00000022894.11 ENSMUST00000022894.12 ENSMUST00000022894.13 ENSMUST00000022894.2 ENSMUST00000022894.3 ENSMUST00000022894.4 ENSMUST00000022894.5 ENSMUST00000022894.6 ENSMUST00000022894.7 ENSMUST00000022894.8 ENSMUST00000022894.9 NM_011740 P35215 P63101 P70197 P97286 Q3TSF1 Q5EBQ1 uc007vmz.1 uc007vmz.2 uc007vmz.3 uc007vmz.4 uc007vmz.5 Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif. Binding generally results in the modulation of the activity of the binding partner. Promotes cytosolic retention and inactivation of TFEB transcription factor by binding to phosphorylated TFEB. Induces ARHGEF7 activity on RAC1 as well as lamellipodia and membrane ruffle formation (By similarity). In neurons, regulates spine maturation through the modulation of ARHGEF7 activity (By similarity). Homodimer. Heterodimerizes with YWHAE (By similarity). Homo- and heterodimerization is inhibited by phosphorylation on Ser-58 (By similarity). Interacts with FOXO4, NOXA1, SSH1 and ARHGEF2. Interacts with CDK16 and with WEE1 (C-terminal). Interacts with MLF1 (phosphorylated form); the interaction retains it in the cytoplasm. Interacts with BSPRY. Interacts with Thr-phosphorylated ITGB2 (By similarity). Interacts with Pseudomonas aeruginosa exoS (unphosphorylated form). Interacts with BAX; the interaction occurs in the cytoplasm. Under stress conditions, MAPK8-mediated phosphorylation releases BAX to mitochondria. Interacts with phosphorylated RAF1; the interaction is inhibited when YWHAZ is phosphorylated on Thr-232. Interacts with TP53; the interaction enhances p53 transcriptional activity. The Ser-58 phosphorylated form inhibits this interaction and p53 transcriptional activity. Interacts with ABL1 (phosphorylated form); the interaction retains ABL1 in the cytoplasm. Interacts with PKA-phosphorylated AANAT; the interaction modulates AANAT enzymatic activity by increasing affinity for arylalkylamines and acetyl-CoA and protecting the enzyme from dephosphorylation and proteasomal degradation (By similarity). It may also prevent thiol-dependent inactivation (By similarity). Interacts with AKT1; the interaction phosphorylates YWHAZ and modulates dimerization (By similarity). Interacts with GAB2 (By similarity). Interacts with SAMSN1. Interacts with BCL2L11 and TLK2. Interacts with the 'Thr-369' phosphorylated form of DAPK2 (PubMed:26047703). Interacts with PI4KB, TBC1D22A and TBC1D22B (By similarity). Interacts with ZFP36L1 (via phosphorylated form); this interaction occurs in a p38 MAPK- and AKT-signaling pathways (PubMed:22701344). Interacts with SLITRK1 (By similarity). Interacts with AK5, LDB1, MADD, PDE1A and SMARCB1 (By similarity). Interacts with ARHGEF7 and GIT1 (PubMed:16959763). Interacts with MEFV (By similarity). Interacts with ADAM22 (via C-terminus) (By similarity). P63101; Q5S006: Lrrk2; NbExp=5; IntAct=EBI-354751, EBI-2693710; P63101; Q9QWV4: Mlf1; NbExp=3; IntAct=EBI-354751, EBI-354765; P63101; O43524: FOXO3; Xeno; NbExp=2; IntAct=EBI-354751, EBI-1644164; P63101; Q92945: KHSRP; Xeno; NbExp=2; IntAct=EBI-354751, EBI-1049099; Cytoplasm Melanosome Note=Located to stage I to stage IV melanosomes. The delta, brain-specific form differs from the zeta form in being phosphorylated (Probable). Phosphorylation on Ser-184 by MAPK8; promotes dissociation of BAX and translocation of BAX to mitochondria (By similarity). Phosphorylation on Thr-232; inhibits binding of RAF1 (By similarity). Phosphorylated on Ser-58 by PKA and protein kinase C delta type catalytic subunit in a sphingosine-dependent fashion (PubMed:9705322). Phosphorylation on Ser-58 by PKA; disrupts homodimerization and heterodimerization with YHAE and TP53 (By similarity). Belongs to the 14-3-3 family. histamine secretion by mast cell protein binding nucleus cytoplasm mitochondrion cytosol protein targeting protein targeting to mitochondrion synaptic target recognition transcription factor binding regulation of cell death postsynaptic density protein kinase binding protein domain specific binding cell leading edge ubiquitin protein ligase binding macromolecular complex melanosome response to drug mast cell granule identical protein binding ion channel binding macromolecular complex binding perinuclear region of cytoplasm establishment of Golgi localization regulation of synapse maturation Golgi reassembly glutamatergic synapse uc007vmz.1 uc007vmz.2 uc007vmz.3 uc007vmz.4 uc007vmz.5 
ENSMUST00000022895.15 Grhl2 ENSMUST00000022895.15 grainyhead like transcription factor 2 (from RefSeq NM_026496.4) Bom ENSMUST00000022895.1 ENSMUST00000022895.10 ENSMUST00000022895.11 ENSMUST00000022895.12 ENSMUST00000022895.13 ENSMUST00000022895.14 ENSMUST00000022895.2 ENSMUST00000022895.3 ENSMUST00000022895.4 ENSMUST00000022895.5 ENSMUST00000022895.6 ENSMUST00000022895.7 ENSMUST00000022895.8 ENSMUST00000022895.9 GRHL2_MOUSE NM_026496 Q80UZ5 Q8K5C0 Tcfcp2l3 uc007vne.1 uc007vne.2 uc007vne.3 uc007vne.4 Transcription factor playing an important role in primary neurulation and in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (PubMed:22696678). During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation. Essential for closure 3 (rostral end of the forebrain), functions cooperatively with GRHL3 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (PubMed:20654612). Regulates epithelial morphogenesis acting as a target gene-associated transcriptional activator of apical junctional complex components. Up-regulates of CLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4 protein and its localization at tight junctions (PubMed:22696678). Comprises an essential component of the transcriptional machinery that establishes appropriate expression levels of CLDN4 and CDH1 in different types of epithelia (PubMed:20978075). Exhibits functional redundancy with GRHL3 in epidermal morphogenetic events such as eyelid fusion and epidermal wound repair (PubMed:21081122). In lung, forms a regulatory loop with NKX2-1 that coordinates lung epithelial cell morphogenesis and differentiation (PubMed:22955271). In keratinocytes, plays a role in telomerase activation during cellular proliferation, regulates TERT expression by binding to TERT promoter region and inhibiting DNA methylation at the 5'-CpG island, possibly by interfering with DNMT1 enzyme activity. In addition, impairs keratinocyte differentiation and epidermal function by inhibiting the expression of genes clustered at the epidermal differentiation complex (EDC) as well as GRHL1 and GRHL3 through epigenetic mechanisms (By similarity). Homodimer, also forms heterodimers with GRHL1 or GRHL3. Nucleus mbrane Note=detected at cell-cell contact areas. At 14.5 dpc expressed in lung, esophagus, skin and kidney. At 9.5 dpc expressed in foregut and surface ectoderm but not in the neural tube. At 9.5 dpc and 15.5 dpc, detected in the lung epithelium and in branchiolar and alveolar epithelial cells at 18.5 dpc and adult. Expressed in otocyst at 11.5 dpc, prominent in epithelial derivatives of the otic placode in the vestibule and cochlear duct at 18.5 dpc. At postnatal day 5, epithelial cells of the cochlear duct, which surround the endolymph-containing scala media, continued to express low levels, while little or no expression was seen in the mesenchyme-derived cells lining the scala tympani and scala vestibuli. Detected in cholangiocytes in postnatal day 1 and postnatal day 8 livers. Mutant embryos show an epithelial and anterior and posterior neural tube defects leading to death at around 11.5 dpc (PubMed:20654612, PubMed:20978075). They exhibit a fully penetrant split-face malformation, associated with cranioschisis. Closure of the remainder of the neural tube ocrurred normally with the exception of the posterior neuropore. The dorso-lateral hinge points fail to form and closure do not proceed beyond this point (PubMed:20654612). GRHL genes (GRHL1, GRHL2 and GRHL3) show a paradoxal lack of redundancy despite their extensive sequence identity in the DNA-binding and protein dimerization domains and the fact that the core consensus DNA binding sites are identical. They have related but remarkably different functions during embryogenesis because of their differential spatiotemporal expression patterns during development. Belongs to the grh/CP2 family. Grainyhead subfamily. intronic transcription regulatory region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding in utero embryonic development neural tube closure cardiac ventricle morphogenesis epithelial cell morphogenesis DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding nucleus nucleoplasm cell-cell junction regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell adhesion brain development cell proliferation epidermis development regulation of gene expression membrane neural tube development respiratory tube development chromatin DNA binding cell junction assembly multicellular organism growth embryonic digit morphogenesis camera-type eye development sequence-specific DNA binding regulation of DNA methylation negative regulation of keratinocyte differentiation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter embryonic organ development embryonic cranial skeleton morphogenesis positive regulation of telomerase activity face development lung lobe morphogenesis lung epithelial cell differentiation epithelial cell morphogenesis involved in placental branching anterior neural tube closure bicellular tight junction assembly epithelium migration uc007vne.1 uc007vne.2 uc007vne.3 uc007vne.4 
ENSMUST00000022901.16 Rrm2b ENSMUST00000022901.16 ribonucleotide reductase M2 B (TP53 inducible), transcript variant 11 (from RefSeq NR_184224.1) ENSMUST00000022901.1 ENSMUST00000022901.10 ENSMUST00000022901.11 ENSMUST00000022901.12 ENSMUST00000022901.13 ENSMUST00000022901.14 ENSMUST00000022901.15 ENSMUST00000022901.2 ENSMUST00000022901.3 ENSMUST00000022901.4 ENSMUST00000022901.5 ENSMUST00000022901.6 ENSMUST00000022901.7 ENSMUST00000022901.8 ENSMUST00000022901.9 NR_184224 P53r2 Q6PEE3 RIR2B_MOUSE uc007vnl.1 uc007vnl.2 uc007vnl.3 uc007vnl.4 Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage. Reaction=[thioredoxin]-disulfide + a 2'-deoxyribonucleoside 5'- diphosphate + H2O = [thioredoxin]-dithiol + a ribonucleoside 5'- diphosphate; Xref=Rhea:RHEA:23252, Rhea:RHEA-COMP:10698, Rhea:RHEA- COMP:10700, ChEBI:CHEBI:15377, ChEBI:CHEBI:29950, ChEBI:CHEBI:50058, ChEBI:CHEBI:57930, ChEBI:CHEBI:73316; EC=1.17.4.1; Evidence=; Name=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence=; Note=Binds 2 iron ions per subunit. ; Heterotetramer with large (RRM1) subunit. Interacts with p53/TP53. Interacts with RRM1 in response to DNA damage (By similarity). Cytoplasm Nucleus Note=Translocates from cytoplasm to nucleus in response to DNA damage. Mice develop normally until they are weaned but from then on exhibit growth retardation and early mortality. Pathological examination indicates that multiple organs fail and that they die from severe renal failure by the age of 14 weeks. Belongs to the ribonucleoside diphosphate reductase small chain family. kidney development renal system process ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor nucleus nucleoplasm cytoplasm mitochondrion cytosol ribonucleoside-diphosphate reductase complex DNA replication mitochondrial DNA replication DNA repair cellular response to DNA damage stimulus response to oxidative stress deoxyribonucleoside triphosphate metabolic process deoxyribonucleotide biosynthetic process response to amine oxidoreductase activity metal ion binding oxidation-reduction process negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator uc007vnl.1 uc007vnl.2 uc007vnl.3 uc007vnl.4 
ENSMUST00000022904.8 Atp6v1c1 ENSMUST00000022904.8 ATPase, H+ transporting, lysosomal V1 subunit C1 (from RefSeq NM_025494.3) Atp6c Atp6c1 ENSMUST00000022904.1 ENSMUST00000022904.2 ENSMUST00000022904.3 ENSMUST00000022904.4 ENSMUST00000022904.5 ENSMUST00000022904.6 ENSMUST00000022904.7 NM_025494 Q91Z42 Q9Z1G3 VATC1_MOUSE Vatc uc007vnv.1 uc007vnv.2 uc007vnv.3 uc007vnv.4 Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity (By similarity). V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex (By similarity). The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H (By similarity). The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c'', rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR (By similarity). Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Peripheral membrane protein Cytoplasmic vesicle, clathrin-coated vesicle membrane ; Peripheral membrane protein Ubiquitous. Abundant in brain, liver, kidney and testis. Belongs to the V-ATPase C subunit family. vacuolar proton-transporting V-type ATPase, V1 domain cytoplasm plasma membrane ion transport hydrogen-exporting ATPase activity, phosphorylative mechanism hydrogen ion transmembrane transporter activity cytoplasmic vesicle proton-transporting V-type ATPase, V1 domain apical part of cell proton-transporting ATPase activity, rotational mechanism hydrogen ion transmembrane transport uc007vnv.1 uc007vnv.2 uc007vnv.3 uc007vnv.4 
ENSMUST00000022908.10 Slc25a32 ENSMUST00000022908.10 solute carrier family 25, member 32 (from RefSeq NM_172402.3) ENSMUST00000022908.1 ENSMUST00000022908.2 ENSMUST00000022908.3 ENSMUST00000022908.4 ENSMUST00000022908.5 ENSMUST00000022908.6 ENSMUST00000022908.7 ENSMUST00000022908.8 ENSMUST00000022908.9 Mftc NM_172402 Q3TCM5 Q8BMG8 S2532_MOUSE Slc25a32 uc007vob.1 uc007vob.2 uc007vob.3 uc007vob.4 Facilitates flavin adenine dinucleotide (FAD) translocation across the mitochondrial inner membrane into the mitochondrial matrix where it acts as a redox cofactor to assist flavoenzyme activities in fundamental metabolic processes including fatty acid beta-oxidation, amino acid and choline metabolism as well as mitochondrial electron transportation. In particular, provides FAD to DLD dehydrogenase of the glycine cleavage system, part of mitochondrial one-carbon metabolic pathway involved in neural tube closure in early embryogenesis. Reaction=FAD(in) = FAD(out); Xref=Rhea:RHEA:76535, ChEBI:CHEBI:57692; Evidence=; Mitochondrion inner membrane ; Multi-pass membrane protein Embryonic lethal (PubMed:29666258, PubMed:35727412). At 11.5 dpc, the majority of mutant embryos show neural tube defects with exencephaly or craniorachischisis associated with multiple acyl-CoA dehydrogenase deficiency. Neural tube defects can be prevented by formate supplementation in early embryogenesis. Belongs to the mitochondrial carrier (TC 2.A.29) family. Initially postulated to function as a folate transporter based on complementation evidence, but it was latter shown that it rather function as a FAD transporter indirectly affecting folate-mediated one- carbon metabolism in mitochondria. mitochondrion mitochondrial inner membrane glycine metabolic process folic acid transporter activity FAD transmembrane transporter activity folic acid transport membrane integral component of membrane FAD transmembrane transport uc007vob.1 uc007vob.2 uc007vob.3 uc007vob.4 
ENSMUST00000022909.10 Dcaf13 ENSMUST00000022909.10 DDB1 and CUL4 associated factor 13, transcript variant 1 (from RefSeq NM_198606.3) DCA13_MOUSE E9QPL0 ENSMUST00000022909.1 ENSMUST00000022909.2 ENSMUST00000022909.3 ENSMUST00000022909.4 ENSMUST00000022909.5 ENSMUST00000022909.6 ENSMUST00000022909.7 ENSMUST00000022909.8 ENSMUST00000022909.9 Gm83 NM_198606 Q6PAC3 Wdsof1 uc007voc.1 uc007voc.2 uc007voc.3 uc007voc.4 uc007voc.5 Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre- rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre- ribosomal RNA by the RNA exosome (By similarity). Participates in the 18S rRNA processing in growing oocytes, being essential for oocyte nonsurrounded nucleolus (NSN) to surrounded nucleolus (SN) transition (PubMed:30283081). Substrate-recognition component of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex that plays a key role in embryo preimplantation and is required for normal meiotic cycle progression in oocytes (PubMed:30111536, PubMed:31492966). Acts as a maternal factor that regulates oocyte and zygotic chromatin tightness during maternal to zygotic transition (PubMed:31000741). Also involved in the transformation of the endometrium into the decidua, known as decidualization, providing a solid foundation for implantation of blastocysts (PubMed:35932979). Recognizes the histone methyltransferases SUV39H1 and SUV39H2 and directs them to polyubiquitination and proteasomal degradation, which facilitates the H3K9me3 removal and early zygotic gene expression, essential steps for progressive genome reprogramming and the establishment of pluripotency during preimplantation embryonic development (PubMed:30111536). Supports the spindle assembly and chromosome condensation during oocyte meiotic division by targeting the polyubiquitination and degradation of PTEN, a lipid phosphatase that inhibits PI3K pathway as well as oocyte growth and maturation (PubMed:31492966). Targets PMP22 for polyubiquitination and proteasomal degradation (PubMed:35178836). Protein modification; protein ubiquitination. Component of the DCX(DCAF13) E3 ubiquitin ligase complex, at least composed of CUL4 (CUL4A or CUL4B), DDB1, DCAF13 and RBX1. Interacts (via WD40 domain) with DDB1 (PubMed:30111536, PubMed:31492966, PubMed:35178836). Interacts with ESR1 and LATS1 (By similarity). Nucleus, nucleolus te=In the nucleolus, localizes predominantly in the granular component, but also detected in the fibrillar center and dense fibrillar component. Uniformly distributed in trophectoderm cells and inner cells mass in blastocyst embryos (PubMed:30111536). Expressed in oocytes as early as the primordial follicle stage (PubMed:30283081). Endometrial expression increases during decidualization and is highly expressed in decidua (PubMed:35932979). In embryo, expressed as early as the four-cell stage and continue to accumulate in morulae and blastocysts (at protein level) (PubMed:30111536). Expressed in growing oocytes with the nonsurrounded nucleolus configuration, reaches a peak in oocytes within pre-antral and early antral follicles and nearly disappears in the fully grown oocyte with the surrounded nucleolus configuration (PubMed:30283081). Knockout embryos are arrested at the eight- to sixteen-cell stage before compaction causing preimplantation-stage mortality (PubMed:30111536). Mutant embryos are morphologically normal up to the eight-cell stage but they do not compact, fail to develop into blastocysts and die at the morula stage (PubMed:30111536). Oocyte- specific knockout females are infertile (PubMed:30283081, PubMed:31000741). The ovaries of 8-week-old females are significantly smaller than those of wild-type females and are devoid of follicles containing more than two layers of granulosa cells and corpora lutea. The ovaries are deficient in follicles beyond the secondary follicle stage and contained fewer primordial follicles than the control ovaries. At 5 months of age, oocytes disappear in the ovaries and only primordial and primary follicles are seen in the mutant ovaries (PubMed:30283081). Oocyte-specific maternal knockout embryos display arrest at the two-cell stage (PubMed:31000741). Conditional knockout females under the control of progesterone receptor fail to undergo decidualization (PubMed:35932979). Belongs to the WD repeat DCAF13/WDSOF1 family. maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleus nucleolus centrosome cytosol rRNA processing protein ubiquitination cell junction estrogen receptor binding small-subunit processome ribosome biogenesis Cul4-RING E3 ubiquitin ligase complex uc007voc.1 uc007voc.2 uc007voc.3 uc007voc.4 uc007voc.5 
ENSMUST00000022913.6 Dcstamp ENSMUST00000022913.6 dendrocyte expressed seven transmembrane protein, transcript variant 1 (from RefSeq NM_029422.4) B2RT61 DCSTP_MOUSE ENSMUST00000022913.1 ENSMUST00000022913.2 ENSMUST00000022913.3 ENSMUST00000022913.4 ENSMUST00000022913.5 NM_029422 Q6R315 Q7TNI9 Q7TNJ0 Q9D619 Tm7sf4 uc007voi.1 uc007voi.2 uc007voi.3 uc007voi.4 Probable cell surface receptor that plays several roles in cellular fusion, cell differentiation, bone and immune homeostasis. Plays a role in TNFSF11-mediated osteoclastogenesis. Cooperates with OCSTAMP in modulating cell-cell fusion in both osteoclasts and foreign body giant cells (FBGCs). Participates in osteoclast bone resorption. Involved in inducing the expression of tartrate-resistant acid phosphatase in osteoclast precursors. Plays a role in haematopoietic stem cell differentiation of bone marrow cells toward the myeloid lineage. Inhibits the development of neutrophilic granulocytes. Plays also a role in the regulation of dendritic cell (DC) antigen presentation activity by controlling phagocytic activity. Involved in the maintenance of immune self-tolerance and avoidance of autoimmune reactions. Interacts with CREB3 (By similarity). Monomer. Homodimer. Isoform 1 interacts (via the C-terminus cytoplasmic tail) with OS9 isoform 1 (via the C-terminus tail); the interaction induces DCSTAMP redistribution to the endoplasmic reticulum-Golgi intermediate compartment. Isoform 1 interacts (via the C-terminus cytoplasmic tail) with OS9 isoform 2 (via the C-terminus tail). Cell membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane; Multi-pass membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane; Multi-pass membrane protein. Endosome. Note=Localized to the cell surface in osteoclasts and undifferentiated monocytes. Intracellular internalized DCSTAMP is detected in a fraction of RANKL- induced osteoclast precursor. Colocalizes with OS9 in the endoplasmic reticulum (ER) of immature dendritic cell (DC). Translocates from the endoplasmic reticulum to the intermediate/Golgi compartment upon maturation of DC in a OS9-dependent manner. Colocalizes with LAMP1 in endosomes. Event=Alternative splicing; Named isoforms=4; Name=1 ; IsoId=Q7TNJ0-1; Sequence=Displayed; Name=2 ; IsoId=Q7TNJ0-2; Sequence=VSP_051763; Name=3 ; IsoId=Q7TNJ0-3; Sequence=VSP_051765; Name=4 ; IsoId=Q7TNJ0-4; Sequence=VSP_051764; Expressed in macrophages and bone marrow dendritic cells (BM-DC). Weakly expressed in the spleen and lymph node. Highly expressed in multi-nuclear osteoclasts compared to mono-nuclear macrophages. Expressed in foreign body giant cells (FBGCs). Isoform 1 and isoform 2 are expressed in osteoclasts. Up-regulated by IL4/interleukin-4, macrophage colony- stimulating factor (M-CSF), receptor activator of NF-KB ligand (RANKL), lipopolysaccharide (LPS) and toll-like receptor (TLR). Up-regulated by TNFSF11-induced osteoclast differentiation in combination with TNF- alpha. Down-regulated upon dendritic cell (DC) maturation. Several domains are necessary for interacting with OS9. The region in the cytoplasmic tail that is necessary for interaction with OS9, is also required for its transport. Glycosylated. Mice show a lack of osteoclast and foreign body giant cells multi-nuclear formation and a bone-resorbing efficiency reduction. Mice show increased bone mass. Older (>12 months) mice suffered from multisystemic inflammations in the kidney, lung and salivary gland. Mice show autoimmune symptoms, like dendritic cells (DC) with increased phagocytotic activity and antigen presentation. immune system process endosome endoplasmic reticulum endoplasmic reticulum membrane plasma membrane cell surface endosome membrane membrane integral component of membrane cell differentiation integral component of endoplasmic reticulum membrane negative regulation of cell growth osteoclast differentiation endoplasmic reticulum-Golgi intermediate compartment membrane positive regulation of macrophage fusion cellular response to macrophage colony-stimulating factor stimulus myeloid dendritic cell differentiation positive regulation of monocyte differentiation positive regulation of bone resorption membrane fusion cellular response to interleukin-4 cellular response to tumor necrosis factor osteoclast fusion uc007voi.1 uc007voi.2 uc007voi.3 uc007voi.4 
ENSMUST00000022915.11 Dpys ENSMUST00000022915.11 dihydropyrimidinase, transcript variant 1 (from RefSeq NM_022722.3) DPYS_MOUSE ENSMUST00000022915.1 ENSMUST00000022915.10 ENSMUST00000022915.2 ENSMUST00000022915.3 ENSMUST00000022915.4 ENSMUST00000022915.5 ENSMUST00000022915.6 ENSMUST00000022915.7 ENSMUST00000022915.8 ENSMUST00000022915.9 NM_022722 Q99PP1 Q9DBK3 Q9DBP7 Q9EQF5 uc007vok.1 uc007vok.2 uc007vok.3 uc007vok.4 Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring opening of dihydropyrimidines. Can catalyze the ring opening of 5,6-dihydrouracil to N-carbamyl-alanine and of 5,6-dihydrothymine to N-carbamyl-amino isobutyrate (By similarity). Reaction=5,6-dihydrouracil + H2O = 3-(carbamoylamino)propanoate + H(+); Xref=Rhea:RHEA:16121, ChEBI:CHEBI:11892, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15901; EC=3.5.2.2; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 2 Zn(2+) ions per subunit. ; Homotetramer. Carboxylation allows a single lysine to coordinate two zinc ions. Belongs to the metallo-dependent hydrolases superfamily. Hydantoinase/dihydropyrimidinase family. uracil binding thymine binding dihydropyrimidinase activity cytoplasm cytosol pyrimidine nucleobase catabolic process thymine catabolic process uracil catabolic process zinc ion binding amino acid binding hydrolase activity hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides beta-alanine metabolic process uracil metabolic process metal ion binding phosphoprotein binding protein homooligomerization protein homotetramerization uc007vok.1 uc007vok.2 uc007vok.3 uc007vok.4 
ENSMUST00000022916.13 Lrp12 ENSMUST00000022916.13 low density lipoprotein-related protein 12, transcript variant 1 (from RefSeq NM_172814.4) ENSMUST00000022916.1 ENSMUST00000022916.10 ENSMUST00000022916.11 ENSMUST00000022916.12 ENSMUST00000022916.2 ENSMUST00000022916.3 ENSMUST00000022916.4 ENSMUST00000022916.5 ENSMUST00000022916.6 ENSMUST00000022916.7 ENSMUST00000022916.8 ENSMUST00000022916.9 LRP12_MOUSE NM_172814 Q8BUJ9 Q8BWM9 uc007vom.1 uc007vom.2 uc007vom.3 Probable receptor, which may be involved in the internalization of lipophilic molecules and/or signal transduction. May act as a tumor suppressor (By similarity). May interact with RACK1, ZFYVE9 and NMRK2. Membrane ; Single-pass type I membrane protein Membrane, coated pit Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8BUJ9-1; Sequence=Displayed; Name=2; IsoId=Q8BUJ9-2; Sequence=VSP_009821; Belongs to the LDLR family. Sequence=BAC39247.1; Type=Frameshift; Evidence=; neuron migration molecular_function integral component of plasma membrane clathrin-coated pit endocytosis membrane integral component of membrane neuron projection development uc007vom.1 uc007vom.2 uc007vom.3 
ENSMUST00000022921.7 Angpt1 ENSMUST00000022921.7 angiopoietin 1, transcript variant 1 (from RefSeq NM_009640.4) ANGP1_MOUSE Agpt ENSMUST00000022921.1 ENSMUST00000022921.2 ENSMUST00000022921.3 ENSMUST00000022921.4 ENSMUST00000022921.5 ENSMUST00000022921.6 NM_009640 O08538 Q6NWV7 uc007vpc.1 uc007vpc.2 uc007vpc.3 uc007vpc.4 This gene encodes a secreted glycoprotein that belongs to the angiopoietin family of vascular growth factors. The encoded protein is a ligand in the vascular tyrosine kinase signaling pathway and regulates the formation and stabilization of blood vessels. This protein also functions in striated muscles by promoting proliferation, migration and differentiation of skeletal myoblasts and plays an essential role in the vascular response to tissue injury. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2013]. Binds and activates TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation. Plays an important role in the regulation of angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Required for normal angiogenesis and heart development during embryogenesis. After birth, activates or inhibits angiogenesis, depending on the context. Inhibits angiogenesis and promotes vascular stability in quiescent vessels, where endothelial cells have tight contacts. In quiescent vessels, ANGPT1 oligomers recruit TEK to cell- cell contacts, forming complexes with TEK molecules from adjoining cells, and this leads to preferential activation of phosphatidylinositol 3-kinase and the AKT1 signaling cascades. In migrating endothelial cells that lack cell-cell adhesions, ANGT1 recruits TEK to contacts with the extracellular matrix, leading to the formation of focal adhesion complexes, activation of PTK2/FAK and of the downstream kinases MAPK1/ERK2 and MAPK3/ERK1, and ultimately to the stimulation of sprouting angiogenesis. Mediates blood vessel maturation/stability. Implicated in endothelial developmental processes later and distinct from that of VEGF. Appears to play a crucial role in mediating reciprocal interactions between the endothelium and surrounding matrix and mesenchyme (By similarity). Homooligomer (By similarity). Interacts with TEK/TIE2 (By similarity). Interacts with SVEP1/polydom (PubMed:28179430). Secreted Early in development, at 9 dpc to 11 dpc, it is found most prominently in the heart myocardium surrounding the endocardium. Later, it becomes more widely distributed, most often in the mesenchyme surrounding developing vessels, in close association with endothelial cells. Embryonically lethal. Embryos die at about 12.5 dpc, due to important developmental defects of the endocardium and myocardium, plus generalized defects in vascular development. angiogenesis ovarian follicle development branching involved in blood vessel morphogenesis vasculogenesis in utero embryonic development negative regulation of protein phosphorylation sprouting angiogenesis positive regulation of receptor internalization negative regulation of cytokine secretion involved in immune response endocardium morphogenesis receptor binding vascular endothelial growth factor receptor binding extracellular region extracellular space plasma membrane microvillus negative regulation of cell adhesion transmembrane receptor protein tyrosine kinase signaling pathway activation of transmembrane receptor protein tyrosine kinase activity multicellular organism development endoderm development positive regulation of endothelial cell migration positive regulation of phosphatidylinositol 3-kinase signaling regulation of skeletal muscle satellite cell proliferation hemopoiesis cell differentiation heparin biosynthetic process positive regulation of vascular endothelial growth factor receptor signaling pathway receptor tyrosine kinase binding positive regulation of protein ubiquitination cell-substrate adhesion regulation of tumor necrosis factor production positive regulation of peptidyl-serine phosphorylation protein localization to cell surface negative regulation of protein import into nucleus negative regulation of apoptotic process negative regulation of vascular permeability regulation of I-kappaB kinase/NF-kappaB signaling regulation of protein binding negative regulation of neuron apoptotic process positive regulation of blood vessel endothelial cell migration membrane raft positive regulation of cell adhesion Tie signaling pathway positive regulation of peptidyl-tyrosine phosphorylation positive chemotaxis protein homooligomerization positive regulation of protein kinase B signaling cardiac muscle tissue morphogenesis vasculogenesis involved in coronary vascular morphogenesis positive regulation of ERK1 and ERK2 cascade glomerulus vasculature development negative regulation of endothelial cell apoptotic process regulation of macrophage migration inhibitory factor signaling pathway uc007vpc.1 uc007vpc.2 uc007vpc.3 uc007vpc.4 
ENSMUST00000022925.10 Eif3h ENSMUST00000022925.10 eukaryotic translation initiation factor 3, subunit H, transcript variant 1 (from RefSeq NM_080635.2) EIF3H_MOUSE ENSMUST00000022925.1 ENSMUST00000022925.2 ENSMUST00000022925.3 ENSMUST00000022925.4 ENSMUST00000022925.5 ENSMUST00000022925.6 ENSMUST00000022925.7 ENSMUST00000022925.8 ENSMUST00000022925.9 Eif3s3 NM_080635 Q91WK2 uc007vrb.1 uc007vrb.2 uc007vrb.3 Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression. Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is composed of 13 subunits: EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L and EIF3M. The eIF-3 complex appears to include 3 stable modules: module A is composed of EIF3A, EIF3B, EIF3G and EIF3I; module B is composed of EIF3F, EIF3H, and EIF3M; and module C is composed of EIF3C, EIF3D, EIF3E, EIF3K and EIF3L. EIF3C of module C binds EIF3B of module A and EIF3H of module B, thereby linking the three modules. EIF3J is a labile subunit that binds to the eIF-3 complex via EIF3B. The eIF-3 complex may interact with RPS6KB1 under conditions of nutrient depletion. Mitogenic stimulation may lead to binding and activation of a complex composed of MTOR and RPTOR, leading to phosphorylation and release of RPS6KB1 and binding of EIF4B to eIF-3. Interacts with RNF139; the interaction leads to protein translation inhibitions in a ubiquitination-dependent manner (By similarity). Interacts with DHX33; the interaction is independent of RNA (PubMed:26100019). Cytoplasm Belongs to the eIF-3 subunit H family. formation of cytoplasmic translation initiation complex cytoplasmic translational initiation translation initiation factor activity cytoplasm cytosol eukaryotic translation initiation factor 3 complex translation translational initiation proteolysis metallopeptidase activity eukaryotic 43S preinitiation complex eukaryotic 48S preinitiation complex polysomal ribosome eukaryotic translation initiation factor 3 complex, eIF3m uc007vrb.1 uc007vrb.2 uc007vrb.3 
ENSMUST00000022927.11 Rad21 ENSMUST00000022927.11 RAD21 cohesin complex component, transcript variant 1 (from RefSeq NM_009009.5) ENSMUST00000022927.1 ENSMUST00000022927.10 ENSMUST00000022927.2 ENSMUST00000022927.3 ENSMUST00000022927.4 ENSMUST00000022927.5 ENSMUST00000022927.6 ENSMUST00000022927.7 ENSMUST00000022927.8 ENSMUST00000022927.9 Hr21 NM_009009 P70219 Q3TQ09 Q61550 Q810A8 Q91VB9 Q9DBU4 RAD21_MOUSE Scc1 uc007vrd.1 uc007vrd.2 uc007vrd.3 uc007vrd.4 [Double-strand-break repair protein rad21 homolog]: As a member of the cohesin complex, involved in sister chromatid cohesion from the time of DNA replication in S phase to their segregation in mitosis, a function that is essential for proper chromosome segregation, post-replicative DNA repair, and the prevention of inappropriate recombination between repetitive regions. The cohesin complex may also play a role in spindle pole assembly during mitosis (By similarity). In interphase, cohesins may function in the control of gene expression by binding to numerous sites within the genome (PubMed:18237772). May control RUNX1 gene expression. Binds to and represses APOB gene promoter (By similarity). May play a role in embryonic gut development, possibly through the regulation of enteric neuron development (By similarity). [64-kDa C-terminal product]: May promote apoptosis. Component of the cohesin complex, which consists of an SMC1A/B and SMC3 heterodimer core and 2 non-Smc subunits RAD21 and STAG1/SA1, STAG2/SA2 or STAG3/SA3 (PubMed:10375619, PubMed:18237772). Interacts (via C-terminus) with SMC1A and (via N-terminus) with SMC3; these interactions are direct (By similarity). The cohesin complex interacts with NUMA1. The cohesin complex also interacts with CDCA5, PDS5A and PDS5B; this interaction might regulate the ability of the cohesin complex to mediate sister chromatid cohesion. The interaction with PDS5B is direct and is stimulated by STAG1/SA1. The cohesin complex interacts with the cohesin loading complex subunits NIPBL/Scc2 (via HEAT repeats) and MAU2/Scc4. NIPBL directly contacts all members of the complex, RAD21, SMC1A/B, SMC3 and STAG1 (By similarity). The cohesin complex interacts with DDX11/ChIR1. Directly interacts with WAPL; this interaction is stimulated by STAG1/SA1 (By similarity). Interacts with the ISWI chromatin remodeling complex component SMARCA5; the interaction is direct (By similarity). Interacts with the NuRD complex component CHD4; the interaction is direct (By similarity). [Double-strand-break repair protein rad21 homolog]: Nucleus Chromosome Chromosome, centromere Note=Associates with chromatin. Before prophase, scattered along chromosome arms. During prophase and prometaphase, most cohesins dissociate from the arms of condensing chromosome, possibly through PLK1-mediated phosphorylation (By similarity). A small amount of cohesin remains in centromeric regions and is removed from chromosomes only at the onset of anaphase. At anaphase, cleavage by separase/ESPL1 leads to the dissociation of cohesin from chromosomes and chromosome separation (By similarity). [64-kDa C-terminal product]: Cytoplasm, cytosol Nucleus Widely expressed with highest levels in testis, brain, kidney, heart and thymus. Lowest levels in skeletal muscle. Not regulated during the cell cycle (at protein level). The C-terminal part associates with the ATPase head of SMC1A, while the N-terminal part binds to the ATPase head of SMC3. Cleaved by separase/ESPL1 at the onset of anaphase; this cleavage is required for sister chromatid separation and cytokinesis. Cleaved by caspase-3/CASP3 or caspase-7/CASP7 at the beginning of apoptosis. Phosphorylated; becomes hyperphosphorylated in M phase of cell cycle. The large dissociation of cohesin from chromosome arms during prophase may be partly due to its phosphorylation by PLK1. Seems to bind calcium. Belongs to the rad21 family. chromosome, centromeric region chromatin condensed nuclear chromosome chromatin binding protein binding nucleus nucleoplasm chromosome cytoplasm cytosol DNA repair double-strand break repair regulation of transcription from RNA polymerase II promoter apoptotic process cellular response to DNA damage stimulus cell cycle chromosome segregation sister chromatid cohesion multicellular organism development cohesin complex negative regulation of G2/M transition of mitotic cell cycle nuclear matrix meiotic cohesin complex negative regulation of mitotic metaphase/anaphase transition positive regulation of sister chromatid cohesion cell division meiotic cell cycle protein localization to chromatin uc007vrd.1 uc007vrd.2 uc007vrd.3 uc007vrd.4 
ENSMUST00000022945.9 Shcbp1 ENSMUST00000022945.9 Shc SH2-domain binding protein 1 (from RefSeq NM_011369.4) ENSMUST00000022945.1 ENSMUST00000022945.2 ENSMUST00000022945.3 ENSMUST00000022945.4 ENSMUST00000022945.5 ENSMUST00000022945.6 ENSMUST00000022945.7 ENSMUST00000022945.8 NM_011369 Pal Q3UED9 Q3UMD9 Q9Z179 SHCBP_MOUSE uc009kua.1 uc009kua.2 uc009kua.3 May play a role in signaling pathways governing cellular proliferation, cell growth and differentiation. May be a component of a novel signaling pathway downstream of Shc. Acts as a positive regulator of FGF signaling in neural progenitor cells. Interacts directly with isoform p52shc of SHC1 via its SH2 domain (PubMed:10086341). Interacts with TRIM71; leading to enhanced SHCBP1 protein stability (PubMed:22508726). Interacts with both members of the centralspindlin complex, KIF23 and RACGAP1 (By similarity). Q9Z179; P98083: Shc1; NbExp=5; IntAct=EBI-644352, EBI-300201; Midbody Cytoplasm, cytoskeleton, spindle Note=Displays weak localization to the spindle midzone in some early telophase cells and is concentrated at the midbody in late cytokinesis. Expressed in spleen, lung and heart with higher expression in testis. No expression in brain, liver and skeletal muscle. Elevated expression in actively cycling cells. Down-regulated upon growth inhibition. protein binding cellular_component cytoplasm spindle cytoskeleton fibroblast growth factor receptor signaling pathway midbody SH2 domain binding regulation of neural precursor cell proliferation uc009kua.1 uc009kua.2 uc009kua.3 
ENSMUST00000022946.6 Rida ENSMUST00000022946.6 reactive intermediate imine deaminase A homolog (from RefSeq NM_008287.3) ENSMUST00000022946.1 ENSMUST00000022946.2 ENSMUST00000022946.3 ENSMUST00000022946.4 ENSMUST00000022946.5 Hrp12 NM_008287 P52760 Q569N4 RIDA_MOUSE Rida uc007vlt.1 uc007vlt.2 uc007vlt.3 uc007vlt.4 Catalyzes the hydrolytic deamination of enamine/imine intermediates that form during the course of normal metabolism. May facilitate the release of ammonia from these potentially toxic reactive metabolites, reducing their impact on cellular components. It may act on enamine/imine intermediates formed by several types of pyridoxal-5'- phosphate-dependent dehydratases including L-threonine dehydratase. Also promotes endoribonucleolytic cleavage of some transcripts by promoting recruitment of the ribonuclease P/MRP complex. Acts by bridging YTHDF2 and the ribonuclease P/MRP complex. RIDA/HRSP12 binds to N6-methyladenosine (m6A)-containing mRNAs containing a 5'- GGUUC-3' motif: cooperative binding of RIDA/HRSP12 and YTHDF2 to such transcripts lead to recruitment of the ribonuclease P/MRP complex and subsequent endoribonucleolytic cleavage. Reaction=2-iminobutanoate + H2O = 2-oxobutanoate + NH4(+); Xref=Rhea:RHEA:39975, ChEBI:CHEBI:15377, ChEBI:CHEBI:16763, ChEBI:CHEBI:28938, ChEBI:CHEBI:76545; EC=3.5.99.10; Evidence=; Reaction=2-iminopropanoate + H2O = NH4(+) + pyruvate; Xref=Rhea:RHEA:40671, ChEBI:CHEBI:15361, ChEBI:CHEBI:15377, ChEBI:CHEBI:28938, ChEBI:CHEBI:44400; EC=3.5.99.10; Evidence=; Homotrimer. Interacts with YTHDF2. Cytoplasm Nucleus Peroxisome Mitochondrion Note=Mostly cytoplasmic but, in less differentiated cells occasionally nuclear. Expressed predominantly in liver and kidney. Lower levels in lung and brain. Belongs to the RutC family. Sequence=AAA96033.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; kidney development RNA binding mRNA binding nucleus cytoplasm mitochondrion mitochondrial matrix peroxisome cytosol mRNA catabolic process brain development hydrolase activity endoribonuclease activity, producing 3'-phosphomonoesters negative regulation of translation deaminase activity lung development response to lipid long-chain fatty acid binding protein homodimerization activity ion binding transition metal ion binding negative regulation of epithelial cell proliferation mRNA destabilization G1 to G0 transition RNA phosphodiester bond hydrolysis, endonucleolytic organonitrogen compound catabolic process response to salt uc007vlt.1 uc007vlt.2 uc007vlt.3 uc007vlt.4 
ENSMUST00000022953.10 Fam135b ENSMUST00000022953.10 family with sequence similarity 135, member B (from RefSeq NM_177819.3) ENSMUST00000022953.1 ENSMUST00000022953.2 ENSMUST00000022953.3 ENSMUST00000022953.4 ENSMUST00000022953.5 ENSMUST00000022953.6 ENSMUST00000022953.7 ENSMUST00000022953.8 ENSMUST00000022953.9 F135B_MOUSE NM_177819 Q9DAI6 uc011ztr.1 uc011ztr.2 uc011ztr.3 Belongs to the FAM135 family. Sequence=AAI19175.1; Type=Erroneous initiation; Evidence=; Sequence=BAB24252.2; Type=Erroneous initiation; Evidence=; cellular_component cellular lipid metabolic process uc011ztr.1 uc011ztr.2 uc011ztr.3 
ENSMUST00000022954.7 Khdrbs3 ENSMUST00000022954.7 KH domain containing, RNA binding, signal transduction associated 3, transcript variant 1 (from RefSeq NM_010158.3) ENSMUST00000022954.1 ENSMUST00000022954.2 ENSMUST00000022954.3 ENSMUST00000022954.4 ENSMUST00000022954.5 ENSMUST00000022954.6 KHDR3_MOUSE NM_010158 O88624 Q9R226 Salp Slm2 uc007wbf.1 uc007wbf.2 uc007wbf.3 RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds preferentially to the 5'-[AU]UAAA-3' motif in vitro (PubMed:19457263). Binds optimally to RNA containing 5'-[AU]UAA-3' as a bipartite motif spaced by more than 15 nucleotides (By similarity). Binds poly(A). RNA-binding abilities are down-regulated by tyrosine kinase PTK6 (PubMed:15471878). Involved in splice site selection of vascular endothelial growth factor (By similarity). In vitro regulates CD44 alternative splicing by direct binding to purine-rich exonic enhancer (By similarity). Can regulate alternative splicing of neurexins NRXN1-3 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners such as neuroligins and LRRTM family members. High concentrations in forebrain structures block splicing inclusion of NRXN1-3 AS4 exons while low concentrations favor their inclusion. Targeted, cell-type specific splicing regulation of NRXN1 at AS4 is involved in neuronal glutamatergic synapse function and plasticity and is linked to behavioral aspects (PubMed:22196734, PubMed:23637638, PubMed:24469635, PubMed:27174676). Regulates expression of KHDRBS2/SLIM-1 in defined neuron populations in the hippocampus by modifying its alternative splicing resulting in a transcript predicted to undergo nonsense- mediated decay (PubMed:25505328). Can bind FABP9 mRNA (PubMed:19916944). May play a role as a negative regulator of cell growth. Inhibits cell proliferation. Self-associates to form homooligomers; dimerization increases RNA affinity (By similarity). Interacts with KHDRBS2/SLM-1 (By similarity). Interacts with KHDRBS1/SAM68; heterooligomer formation of KHDRBS family proteins may modulate RNA substrate specificity (PubMed:10077576). Interacts with the splicing regulatory proteins SFRS9, SAFB and YTHDC1. Interacts with HNRPL, RBMX, RBMY1A1, p85 subunit of PI3-kinase, SERPINB5 (By similarity). Nucleus te=Localized in a compartment adjacent to the nucleolus, but distinct from the peri-nucleolar one. Highly expressed in testis and brain. In adult cerebellum expressed predominantly in internal granular layer interneurons and in hippocampus is exclusively expressed in CA neurons; expression is restricted to neuronal subpopulations largely non- overlapping with expression of KHDRBS2/SLM-1. In the developing cerebellum expression is decreasing in the first 3 postnatal weeks. The proline-rich site binds the SH3 domain of the p85 subunit of PI3-kinase. Phosphorylated on tyrosine residues by PTK6. Belongs to the KHDRBS family. nucleic acid binding RNA binding single-stranded RNA binding nucleus nucleoplasm mRNA processing SH3 domain binding protein domain specific binding positive regulation of RNA splicing identical protein binding regulation of mRNA splicing, via spliceosome protein oligomerization uc007wbf.1 uc007wbf.2 uc007wbf.3 
ENSMUST00000022960.4 Eif3e ENSMUST00000022960.4 eukaryotic translation initiation factor 3, subunit E (from RefSeq NM_008388.2) EIF3E EIF3S6 ENSMUST00000022960.1 ENSMUST00000022960.2 ENSMUST00000022960.3 Eif3e Eif3s6 INT6 NM_008388 Q3UIG0 Q3UIG0_MOUSE uc007vpk.1 uc007vpk.2 uc007vpk.3 Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is required for several steps in the initiation of protein synthesis. The eIF-3 complex associates with the 40S ribosome and facilitates the recruitment of eIF-1, eIF-1A, eIF- 2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNA recruitment to the 43S PIC and scanning of the mRNA for AUG recognition. The eIF-3 complex is also required for disassembly and recycling of post-termination ribosomal complexes and subsequently prevents premature joining of the 40S and 60S ribosomal subunits prior to initiation. The eIF-3 complex specifically targets and initiates translation of a subset of mRNAs involved in cell proliferation, including cell cycling, differentiation and apoptosis, and uses different modes of RNA stem-loop binding to exert either translational activation or repression. Required for nonsense-mediated mRNA decay (NMD); may act in conjunction with UPF2 to divert mRNAs from translation to the NMD pathway. May interact with MCM7 and EPAS1 and regulate the proteasome-mediated degradation of these proteins. Component of the eukaryotic translation initiation factor 3 (eIF-3) complex, which is composed of 13 subunits: EIF3A, EIF3B, EIF3C, EIF3D, EIF3E, EIF3F, EIF3G, EIF3H, EIF3I, EIF3J, EIF3K, EIF3L and EIF3M. The eIF-3 complex appears to include 3 stable modules: module A is composed of EIF3A, EIF3B, EIF3G and EIF3I; module B is composed of EIF3F, EIF3H, and EIF3M; and module C is composed of EIF3C, EIF3D, EIF3E, EIF3K and EIF3L. EIF3C of module C binds EIF3B of module A and EIF3H of module B, thereby linking the three modules. EIF3J is a labile subunit that binds to the eIF-3 complex via EIF3B. The eIF-3 complex interacts with RPS6KB1 under conditions of nutrient depletion. Mitogenic stimulation leads to binding and activation of a complex composed of MTOR and RPTOR, leading to phosphorylation and release of RPS6KB1 and binding of EIF4B to eIF-3. Interacts with COPS3, COPS6, COPS7 (COPS7A or COPS7B), EIF4G1, EPAS1, MCM7, NCBP1, PSMC6, TRIM27 and UPF2. Cytoplasm Nucleus Nucleus, PML body Phosphorylated upon DNA damage, probably by ATM or ATR. Belongs to the eIF-3 subunit E family. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay formation of cytoplasmic translation initiation complex cytoplasmic translational initiation translation initiation factor activity nucleus cytoplasm cytosol eukaryotic translation initiation factor 3 complex translation translational initiation eukaryotic 43S preinitiation complex nuclear body PML body eukaryotic 48S preinitiation complex positive regulation of translation protein N-terminus binding eukaryotic translation initiation factor 3 complex, eIF3e positive regulation of mRNA binding uc007vpk.1 uc007vpk.2 uc007vpk.3 
ENSMUST00000022962.8 Emc2 ENSMUST00000022962.8 ER membrane protein complex subunit 2, transcript variant 1 (from RefSeq NM_025736.3) EMC2_MOUSE ENSMUST00000022962.1 ENSMUST00000022962.2 ENSMUST00000022962.3 ENSMUST00000022962.4 ENSMUST00000022962.5 ENSMUST00000022962.6 ENSMUST00000022962.7 Emc2 Kiaa0103 NM_025736 Q925K1 Q9CRD2 Ttc35 uc007vpm.1 uc007vpm.2 uc007vpm.3 Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins. Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues. Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices. It is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes. By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N- exo topology, with translocated N-terminus in the lumen of the ER, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors. By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes. Component of the ER membrane protein complex (EMC). Interacts with WNK1 (via amphipathic alpha-helix region); promoting the ER membrane protein complex assembly by preventing EMC2 ubiquitination. Endoplasmic reticulum membrane ; Peripheral membrane protein ; Cytoplasmic side Note=May also localize to the nuclear envelope. Ubiquitinated when soluble in the cytoplasm, leading to its degradation by the proteasome. Interaction with EMC2 prevents its ubiquitination and degradation. Belongs to the EMC2 family. molecular_function nucleus cytoplasm mitochondrion endoplasmic reticulum ER membrane protein complex uc007vpm.1 uc007vpm.2 uc007vpm.3 
ENSMUST00000022967.7 Kcnv1 ENSMUST00000022967.7 potassium channel, subfamily V, member 1 (from RefSeq NM_026200.3) ENSMUST00000022967.1 ENSMUST00000022967.2 ENSMUST00000022967.3 ENSMUST00000022967.4 ENSMUST00000022967.5 ENSMUST00000022967.6 KCNV1_MOUSE NM_026200 Q8BK61 Q8BYS7 Q8BZN2 Q9CZR1 uc007vql.1 uc007vql.2 uc007vql.3 uc007vql.4 Potassium channel subunit that does not form functional channels by itself. Modulates KCNB1 and KCNB2 channel activity by shifting the threshold for inactivation to more negative values and by slowing the rate of inactivation. Can down-regulate the channel activity of KCNB1, KCNB2, KCNC4 and KCND1, possibly by trapping them in intracellular membranes (By similarity). Heteromultimer with KCNB1 and KCNB2. Interacts with KCNC4 and KCND1 (By similarity). Cell membrane ; Multi-pass membrane protein Note=Has to be associated with another potassium channel subunit to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB2 (By similarity). The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position. Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.1/KCNV1 sub-subfamily. ion channel activity voltage-gated ion channel activity voltage-gated potassium channel activity potassium channel activity plasma membrane ion transport potassium ion transport voltage-gated potassium channel complex membrane integral component of membrane regulation of ion transmembrane transport protein homooligomerization transmembrane transport potassium ion transmembrane transport uc007vql.1 uc007vql.2 uc007vql.3 uc007vql.4 
ENSMUST00000022976.6 Washc5 ENSMUST00000022976.6 WASH complex subunit 5 (from RefSeq NM_153548.3) ENSMUST00000022976.1 ENSMUST00000022976.2 ENSMUST00000022976.3 ENSMUST00000022976.4 ENSMUST00000022976.5 Kiaa0196 NM_153548 Q8BGY1 Q8C2E7 Q8K2J2 WASC5_MOUSE Washc5 uc007vxt.1 uc007vxt.2 uc007vxt.3 Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting. May be involved in axonal outgrowth. Involved in cellular localization of ADRB2. Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 (By similarity). Involved in cytokinesis and following polar body extrusion during oocyte meiotic maturation (PubMed:24998208). Component of the WASH core complex also described as WASH regulatory complex (SHRC) composed of WASH (WASHC1, WASH2P or WASH3P), WASHC2 (WASHC2A or WASHC2C), WASHC3, WASHC4 and WASHC5. The WASH core complex associates via WASHC2 with the F-actin-capping protein dimer (formed by CAPZA1, CAPZA2 or CAPZA3 and CAPZB) in a transient or substoichiometric manner which was initially described as WASH complex. Interacts with VCP, PI4K2A (By similarity). Cytoplasm, cytosol Endoplasmic reticulum Early endosome Note=Colocalizes with SYP/synaptophysin in the external molecular layer of the dentate gyrus and in motoneurons of the ventral horn of spinal cord. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8C2E7-1; Sequence=Displayed; Name=2; IsoId=Q8C2E7-2; Sequence=VSP_010323, VSP_010324; Belongs to the strumpellin family. oocyte maturation molecular_function nucleoplasm cytoplasm endosome early endosome endoplasmic reticulum cytosol positive regulation of neuron projection development protein transport endosomal transport polar body extrusion after meiotic divisions cholesterol homeostasis neuron projection neuronal cell body WASH complex spindle assembly involved in meiosis uc007vxt.1 uc007vxt.2 uc007vxt.3 
ENSMUST00000022977.14 Sqle ENSMUST00000022977.14 squalene epoxidase (from RefSeq NM_009270.3) ENSMUST00000022977.1 ENSMUST00000022977.10 ENSMUST00000022977.11 ENSMUST00000022977.12 ENSMUST00000022977.13 ENSMUST00000022977.2 ENSMUST00000022977.3 ENSMUST00000022977.4 ENSMUST00000022977.5 ENSMUST00000022977.6 ENSMUST00000022977.7 ENSMUST00000022977.8 ENSMUST00000022977.9 NM_009270 Q3TQK8 Q3TQK8_MOUSE Sqle uc007vxq.1 uc007vxq.2 uc007vxq.3 Catalyzes the stereospecific oxidation of squalene to (S)-2,3-epoxysqualene, and is considered to be a rate-limiting enzyme in steroid biosynthesis. Reaction=O2 + reduced [NADPH--hemoprotein reductase] + squalene = (S)- 2,3-epoxysqualene + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:25282, Rhea:RHEA-COMP:11964, Rhea:RHEA- COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:15440, ChEBI:CHEBI:15441, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210; EC=1.14.14.17; Evidence=; Name=FAD; Xref=ChEBI:CHEBI:57692; Evidence= Endoplasmic reticulum membrane ; Peripheral membrane protein Belongs to the squalene monooxygenase family. squalene monooxygenase activity cellular aromatic compound metabolic process cholesterol metabolic process response to organic substance membrane integral component of membrane sterol biosynthetic process regulation of cell proliferation intracellular membrane-bounded organelle flavin adenine dinucleotide binding oxidation-reduction process FAD binding uc007vxq.1 uc007vxq.2 uc007vxq.3 
ENSMUST00000022980.5 Ndufb9 ENSMUST00000022980.5 NADH:ubiquinone oxidoreductase subunit B9, transcript variant 1 (from RefSeq NM_023172.4) ENSMUST00000022980.1 ENSMUST00000022980.2 ENSMUST00000022980.3 ENSMUST00000022980.4 NDUB9_MOUSE NM_023172 Q9CQJ8 uc007vtw.1 uc007vtw.2 uc007vtw.3 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Mammalian complex I is composed of 45 different subunits. Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side Belongs to the complex I LYR family. mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I mitochondrial electron transport, NADH to ubiquinone membrane mitochondrial respiratory chain complex I assembly oxidation-reduction process respiratory chain uc007vtw.1 uc007vtw.2 uc007vtw.3 
ENSMUST00000022985.2 Klhl38 ENSMUST00000022985.2 kelch-like 38 (from RefSeq NM_177755.3) ENSMUST00000022985.1 KLH38_MOUSE NM_177755 Q8BSF5 uc007vtl.1 uc007vtl.2 uc007vtl.1 uc007vtl.2 
ENSMUST00000022986.8 Fbxo32 ENSMUST00000022986.8 F-box protein 32 (from RefSeq NM_026346.3) ENSMUST00000022986.1 ENSMUST00000022986.2 ENSMUST00000022986.3 ENSMUST00000022986.4 ENSMUST00000022986.5 ENSMUST00000022986.6 ENSMUST00000022986.7 FBX32_MOUSE NM_026346 Q9CPU7 uc007vtk.1 uc007vtk.2 uc007vtk.3 uc007vtk.4 uc007vtk.5 Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Probably recognizes and binds to phosphorylated target proteins during skeletal muscle atrophy. Recognizes TERF1 (By similarity). Protein modification; protein ubiquitination. Part of the SCF (SKP1-CUL1-F-box) E3 ubiquitin-protein ligase complex SCF(FBXO32) formed of CUL1, SKP1, RBX1 and FBXO32. Cytoplasm Nucleus Note=Shuttles between cytoplasm and the nucleus. Specifically expressed in cardiac and skeletal muscle. protein binding nucleus nucleoplasm cytoplasm cytosol negative regulation of cardiac muscle hypertrophy positive regulation of cardiac muscle cell apoptotic process response to electrical stimulus involved in regulation of muscle adaptation muscle atrophy response to denervation involved in regulation of muscle adaptation protein ubiquitination SCF ubiquitin ligase complex Z disc cellular response to dexamethasone stimulus uc007vtk.1 uc007vtk.2 uc007vtk.3 uc007vtk.4 uc007vtk.5 
ENSMUST00000022992.13 Tbc1d31 ENSMUST00000022992.13 TBC1 domain family, member 31, transcript variant 3 (from RefSeq NM_001356310.1) ENSMUST00000022992.1 ENSMUST00000022992.10 ENSMUST00000022992.11 ENSMUST00000022992.12 ENSMUST00000022992.2 ENSMUST00000022992.3 ENSMUST00000022992.4 ENSMUST00000022992.5 ENSMUST00000022992.6 ENSMUST00000022992.7 ENSMUST00000022992.8 ENSMUST00000022992.9 NM_001356310 Q3TBW4 Q3U4F6 Q5KSA3 Q6NXY1 Q810J7 Q8C3Y2 TBC31_MOUSE Tbc1d31 Wdr67 uc007vsv.1 uc007vsv.2 uc007vsv.3 Molecular adapter which is involved in cilium biogenesis. Part of a functional complex including OFD1 a centriolar protein involved in cilium assembly. Could regulate the cAMP-dependent phosphorylation of OFD1, and its subsequent ubiquitination by PJA2 which ultimately leads to its proteasomal degradation. Interacts with PJA2; the interaction is direct and recruits PJA2 to centrosomes. Interacts with OFD1; regulates its activity in cilium assembly. Interacts with PRKACA. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite Cytoplasm, cytoskeleton, cilium basal body Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6NXY1-1; Sequence=Displayed; Name=2; IsoId=Q6NXY1-4; Sequence=VSP_016185, VSP_016186, VSP_016187; Sequence=BAD83881.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence=; Sequence=BAE32475.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence=; Sequence=BAE42193.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence=; molecular_function centrosome biological_process uc007vsv.1 uc007vsv.2 uc007vsv.3 
ENSMUST00000022993.7 Derl1 ENSMUST00000022993.7 Der1-like domain family, member 1 (from RefSeq NM_024207.4) DERL1_MOUSE Der1 Derl1 ENSMUST00000022993.1 ENSMUST00000022993.2 ENSMUST00000022993.3 ENSMUST00000022993.4 ENSMUST00000022993.5 ENSMUST00000022993.6 NM_024207 Q3U6Z2 Q99J56 Q9D918 uc007vsq.1 uc007vsq.2 uc007vsq.3 Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal proteins. Forms homotetramers which encircle a large channel traversing the endoplasmic reticulum (ER) membrane. This allows the retrotranslocation of misfolded proteins from the ER into the cytosol where they are ubiquitinated and degraded by the proteasome. The channel has a lateral gate within the membrane which provides direct access to membrane proteins with no need to reenter the ER lumen first. May mediate the interaction between VCP and the misfolded protein. Also involved in endoplasmic reticulum stress- induced pre-emptive quality control, a mechanism that selectively attenuates the translocation of newly synthesized proteins into the endoplasmic reticulum and reroutes them to the cytosol for proteasomal degradation. By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway. Homotetramer (By similarity). The four subunits of the tetramer are arranged in a twofold symmetry (By similarity). Forms homo- and heterooligomers with DERL2 and DERL3; binding to DERL3 is poorer than that between DERL2 and DERL3. Interacts (via SHP-box motif) with VCP (By similarity). Interacts with AMFR, SELENOS, SEL1L, SELENOK and SYVN1, as well as with SEL1L-SYVN1 and VCP-SELENOS protein complexes; this interaction is weaker than that observed between DERL2 and these complexes. Interacts with NGLY1 and YOD1. Does not bind to EDEM1 (By similarity). Interacts with DNAJB9 (PubMed:22267725). Interacts with RNF103. Interacts with HM13. Interacts with XBP1 isoform 1 (via luminal/ectodomain domain); the interaction obviates the need for ectodomain shedding prior HM13/SPP-mediated XBP1 isoform 1 cleavage. Interacts with the signal recognition particle/SRP and the SRP receptor; in the process of endoplasmic reticulum stress-induced pre-emptive quality control. May interact with UBXN6 (By similarity). Interacts with ZFAND2B; probably through VCP (PubMed:24160817). Interacts with CCDC47 (PubMed:25009997). Interacts with C18orf32 (By similarity). May interact with TRAM1 (By similarity). Endoplasmic reticulum membrane ; Multi-pass membrane protein Widely expressed, with lowest levels in brain and heart. Up-regulated in response to endoplasmic reticulum stress via the ERN1-XBP1 pathway of the unfolded protein response (UPR). Belongs to the derlin family. Hrd1p ubiquitin ligase ERAD-L complex protease binding protein binding early endosome late endosome endoplasmic reticulum signal recognition particle receptor complex endoplasmic reticulum membrane response to unfolded protein protein transport membrane integral component of membrane integral component of endoplasmic reticulum membrane ER-associated ubiquitin-dependent protein catabolic process endoplasmic reticulum unfolded protein response retrograde protein transport, ER to cytosol positive regulation of protein ubiquitination ubiquitin protein ligase binding protein destabilization positive regulation of protein binding cellular response to unfolded protein Derlin-1-VIMP complex ERAD pathway Derlin-1 retrotranslocation complex MHC class I protein binding identical protein binding proteasome-mediated ubiquitin-dependent protein catabolic process signal recognition particle ATPase binding protein homooligomerization misfolded protein binding ER-associated misfolded protein catabolic process ubiquitin-specific protease binding uc007vsq.1 uc007vsq.2 uc007vsq.3 
ENSMUST00000022998.14 Mtbp ENSMUST00000022998.14 Mdm2, transformed 3T3 cell double minute p53 binding protein, transcript variant 8 (from RefSeq NR_183253.1) ENSMUST00000022998.1 ENSMUST00000022998.10 ENSMUST00000022998.11 ENSMUST00000022998.12 ENSMUST00000022998.13 ENSMUST00000022998.2 ENSMUST00000022998.3 ENSMUST00000022998.4 ENSMUST00000022998.5 ENSMUST00000022998.6 ENSMUST00000022998.7 ENSMUST00000022998.8 ENSMUST00000022998.9 MTBP_MOUSE NR_183253 Q80VU3 Q8BJS8 Q8BTU9 Q8BTW0 Q99K25 Q9ER61 uc007vsi.1 uc007vsi.2 May play a role in MDM2-dependent p53/TP53 homeostasis in unstressed cells. Inhibits autoubiquitination of MDM2, thereby enhancing MDM2 stability. This promotes MDM2-mediated ubiquitination of p53/TP53 and its subsequent degradation. Inhibits cell migration in vitro and suppresses the invasive behavior of tumor cells. Interacts with MDM2. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8BJS8-1; Sequence=Displayed; Name=2; IsoId=Q8BJS8-2; Sequence=VSP_032106, VSP_032107; Name=3; IsoId=Q8BJS8-3; Sequence=VSP_032105; Expressed in small intestine and spleen at low levels, in the ovary at intermediate levels and in the testis and thymus at high levels. Death between E3.5 and E7.5. Mice containing a heterozygous deletion of this gene coupled with heterozygous deletion of TP53 exhibit an increased incidence of metastatic tumors. Belongs to the MTBP family. kinetochore chromatin protein binding cell cycle cell cycle arrest traversing start control point of mitotic cell cycle negative regulation of cell proliferation regulation of protein ubiquitination protein localization to kinetochore negative regulation of mitotic nuclear division uc007vsi.1 uc007vsi.2 
ENSMUST00000023006.7 Dnaaf11 ENSMUST00000023006.7 dynein axonemal assembly factor 11 (from RefSeq NM_019457.2) DAA11_MOUSE ENSMUST00000023006.1 ENSMUST00000023006.2 ENSMUST00000023006.3 ENSMUST00000023006.4 ENSMUST00000023006.5 ENSMUST00000023006.6 Lrrc6 Lrtp Mc2 NM_019457 O88978 Q9CUG2 uc011ztm.1 uc011ztm.2 Involved in dynein arm assembly, is important for expression and transporting outer dynein arm (ODA) proteins from the cytoplasm to the cilia (PubMed:27353389). Acts as a crucial component in the formation and motility of spermatozoal flagella (By similarity). Interacts (via CS domain) with ZMYND10 (via C-terminus). Cytoplasm ll projection, cilium Dynein axonemal particle Cell projection, cilium, flagellum Mainly expressed in cells with motile cilia (PubMed:27353389). Expressed in epithelial cells of the trachea, testis and ependymal cells of the cerebral ventricles (PubMed:27353389). In testis, abundant expression in late prophase of meiosis I with a dramatic decrease after the first meiotic division (at protein level) (PubMed:10775177). At the embryonic day 8.0 dpc, expressed at the node, especially in pit cells, which are located at the central region of the node and possess motile cilia. At later stages, expression is detected in the notochord at 9.0 dpc, in the hindbrain, the branchial arches and neural tube at 11.0 dpc, in the hindbrain at 12.0 dpc and in the forebrain at 13.0 dpc. Mutant mice show primary ciliary dyskinesia defects such as hydrocephalus and laterality defects and die within 5 weeks of birth. The morphology of mutant motile cilia is normal, but their motility is completely lost. The 9 + 2 arrangement of microtubules remain normal in mutants, but the outer dynein arms (ODAs) is absent from the cilia. Belongs to the tilB family. cilium movement molecular_function extracellular region cytoplasm cilium male gonad development flagellated sperm motility outer dynein arm assembly inner dynein arm assembly cell projection motile cilium assembly epithelial cilium movement involved in determination of left/right asymmetry reproductive system development uc011ztm.1 uc011ztm.2 
ENSMUST00000023007.7 Adcy8 ENSMUST00000023007.7 adenylate cyclase 8, transcript variant 1 (from RefSeq NM_009623.2) ADCY8_MOUSE Adcy8 ENSMUST00000023007.1 ENSMUST00000023007.2 ENSMUST00000023007.3 ENSMUST00000023007.4 ENSMUST00000023007.5 ENSMUST00000023007.6 G3X8V9 NM_009623 P97490 uc007vzo.1 uc007vzo.2 uc007vzo.3 Catalyzes the formation of cAMP in response to calcium entry leadings to cAMP signaling activation that affect processes suche as synaptic plasticity and insulin secretion (PubMed:10864938, PubMed:25403481, PubMed:10482244, PubMed:14585998, PubMed:18448650). Plays a role in many brain functions, such as learning, memory, drug addiction, and anxiety modulation through regulation of synaptic plasticity by modulating long-term memory and long-term potentiation (LTP) through CREB transcription factor activity modulation (PubMed:10482244, PubMed:14585998, PubMed:18448650, PubMed:10864938, PubMed:12441059, PubMed:20638449, PubMed:27234425, PubMed:18222416). Plays a central role in insulin secretion by controlling glucose homeostasis through glucagon-like peptide 1 and glucose signaling pathway and maintains insulin secretion through calcium-dependent PKA activation leading to vesicle pool replenishment (PubMed:25403481). Also, allows PTGER3 to induce potentiation of PTGER4-mediated PLA2 secretion by switching from a negative to a positive regulation, during the IL1B induced-dedifferentiation of smooth muscle cells (By similarity). Reaction=ATP = 3',5'-cyclic AMP + diphosphate; Xref=Rhea:RHEA:15389, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58165; EC=4.6.1.1; Evidence=; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Binds 2 magnesium ions per subunit. Is also active with manganese (in vitro). ; At rest, the N- and C-terminal domains interact, as part of a larger autoinhibitory complex, with calmodulin pre- associated at the N-terminal domain. Upon a calcium rise, calmodulin becomes calcium-saturated and subsequently binds to the C-terminal domain. Fully calcium-saturated calmodulin then leaves the N-terminal domain, binding solely to the C-terminal domain, and the whole autoinhibitory complex dissociates, resulting in activation of adenylate cyclase. As local calcium concentrations decrease, the calmodulin becomes calcium free and binds once more to the N-terminal domain, whereupon the whole system returns to rest with the re- association of the autoinhibitory complex (PubMed:14585998). In non- excitable cells, activated by capacitative calcium entry (CCE) through store-operated channels, namely through interaction with ORAI1 and STIM1; membrane raft and caveolae localization and membrane integrity are indispensable. CCE-mediated adenylate cyclase activity is decreased by AKAP5 and AKAP7. CCE-mediated adenylate cyclase activity is up- regulated by AKAP9 and the mitochondrially targeted AKAP1. In excitable cells, activated during membrane depolarization through L-type voltage- gated calcium channels (VGCC), leading to calcium entry; the L-type alpha subunit is sufficient. Activated via stimulation of the GLP1R. Synergistically activated by calcium/calmodulin and GNAS. Stimulated by forskolin. Inhibited by PKA directly bound to AKAP5 at membrane raft. Inhibition by acute activation of OPRM1 and activation by chronic activation of OPRM1 is mediated by pertussis toxin-sensitive G(i) and G(o) G alpha proteins and G beta-gamma dimer. Activity is inhibited by G beta-gamma dimer (By similarity). Homodimer; via transmembrane domain (PubMed:19158400). Monomer (PubMed:19158400). Heterodimer. Oligemer; via transmembrane domain. Interacts with PRKAR2A and AKAP5; inhibits adenylate cyclase activity through PKA phosphorylation. Interacts with PPP2CA and PPP2R1A; does not mediate the inhibitory effects of PKA on adenylate cyclase activity; interaction is dependent of catalytically active PPP2CA; antagonizes interaction with calmodulin. Interacts with AKAP5 (palmitoylated form); promotes the phosphorylation of ADCY8 after store-operated calcium entry (SOCE) stimulation at membrane raft. Interacts with ORAI1; interaction is calcium store depletion independent; interaction occurs in membrane raft; interaction increases markedly after store depletion; positively regulates SOCE-induced adenylate cyclase activity; contributes to the targeting of ADCY8 to discrete regions of the plasma membrane that are shielded from other calcium events. Interacts with STIM1. Interacts with actin; interaction is calcium independent; interaction is affected by calcium-calmodulin; interaction controls the distribution and regulation of ADCY8. Interacts with calmodulin; at rest, interacts via N-terminal domain; upon a calcium rise, calmodulin becomes calcium-saturated and subsequently binds to the C-terminal domain forming an autoinhibitory complex; fully calcium-saturated calmodulin leaves the N-terminal domain, binding solely to the C-terminal domain leading to dissociation of autoinhibitory complex and resulting in activation of adenylate cyclase; antagonizes interaction with PPP2CA; interaction is calcium dependent. Interacts with PPP2R5D (By similarity). Cell membrane ; Multi-pass membrane protein. Basolateral cell membrane Apical cell membrane Synapse Cell projection, dendrite ll projection, axon Presynaptic cell membrane stsynaptic density Membrane raft Membrane, coated pit Cytoplasmic vesicle, clathrin-coated vesicle membrane Membrane, caveola Note=Localized to dendritic arbors (PubMed:17335981). Monomeric N-glycosylated species localizes in membrane raft. In contrast, monomeric unglycosylated forms are enriched in clathrin-coated pits and vesicles. Dimers are also localized outside of membrane rafts. Membrane raft localization and integrity is indispensable for CCE-stimulated adenylate cyclase activity (By similarity). Abundantly expressed within the olfactory bulb, thalamus, habenula, CA1 region of the hippocampus, and hypothalamus (PubMed:10864938). Strongly expressed in pyramidal cells of CA1 and weakly in CA3 and the dentate gyrus. Strongly and homogeneously expressed in all cell layers of the anterior cingulate cortex (ACC). Widely expressed in the insular cortex. Weakly expressed in the spinal dorsal horn (PubMed:12441059). Abundantly present in the CA1/CA2 region in the hippocampus neonatal and intensifies by adulthood. Weakly expressed in the cerebellum at postnatal day 7 and decreased further by postnatal day 14 (PubMed:17335981). The protein contains two modules with six transmembrane helices each; both are required for catalytic activity. Isolated N-terminal or C-terminal guanylate cyclase domains have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two domains. Both contribute substrate- binding residues, but the catalytic metal ions are bound exclusively via the N-terminal guanylate cyclase domain. The two transmembrane clusters are necessary and suficient for the plasma membrane targeting and oligomers assembly. The N-terminal and C-terminal domains interact at rest as part of a larger autoinhibitory complex, with calmodulin pre-associated at the N-terminal domain; the binding is specifically inhibited by fully calcium-saturated calmodulin, resulting in activation of AC8. Phosphorylated by PKA; mediates inhibition of adenylate cyclase activity at membrane raft; does not influence either CALM1 or PPP2CA interaction with ADCY8. N-glycosylated; N-glycosylation is responsible for raft-targeting; is not necessary for CCE-stimulated adenylate cyclase activity. Adcy8 knockout mice are fertile and seem normal. However mice reveal a tendency for both male and female to be somewhat smaller from day of life 45 and 30 respectively while food intake is normal. From there, females remain 10-15% smaller. In contrast, male transiently grew more slowly between day of life 45 and 92, after which point differences are not significant. Mice are less nervous. Belongs to the adenylyl cyclase class-4/guanylyl cyclase family. nucleotide binding actin binding adenylate cyclase activity protein binding calmodulin binding ATP binding plasma membrane integral component of plasma membrane caveola clathrin-coated pit cAMP biosynthetic process adenylate cyclase-activating G-protein coupled receptor signaling pathway positive regulation of cytosolic calcium ion concentration memory long-term memory locomotory behavior protein C-terminus binding calcium- and calmodulin-responsive adenylate cyclase activity cyclic nucleotide biosynthetic process glucose mediated signaling pathway postsynaptic density membrane integral component of membrane basolateral plasma membrane apical plasma membrane lyase activity phosphorus-oxygen lyase activity phosphatase binding cAMP-mediated signaling cell junction axon dendrite clathrin-coated vesicle membrane cytoplasmic vesicle positive regulation of synaptic plasticity positive regulation of CREB transcription factor activity neuronal cell body membrane activation of protein kinase A activity intracellular signal transduction positive regulation of insulin secretion involved in cellular response to glucose stimulus opioid receptor signaling pathway glucose homeostasis presynaptic membrane protein homodimerization activity cell projection plasma membrane raft membrane raft synapse postsynaptic membrane metal ion binding protein heterodimerization activity protein dimerization activity protein N-terminus binding presynaptic active zone modulation of synaptic transmission protein oligomerization protein homooligomerization regulation of cytosolic calcium ion concentration protein phosphatase 2A binding excitatory synapse cellular response to calcium ion cellular response to morphine cellular response to glucose stimulus cellular response to glucagon stimulus regulation of cellular response to stress glutamatergic synapse integral component of presynaptic membrane positive regulation of long-term synaptic potentiation positive regulation of long term synaptic depression cellular response to forskolin actin cytoskeleton uc007vzo.1 uc007vzo.2 uc007vzo.3 
ENSMUST00000023019.12 Trmu ENSMUST00000023019.12 tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (from RefSeq NM_028063.2) ENSMUST00000023019.1 ENSMUST00000023019.10 ENSMUST00000023019.11 ENSMUST00000023019.2 ENSMUST00000023019.3 ENSMUST00000023019.4 ENSMUST00000023019.5 ENSMUST00000023019.6 ENSMUST00000023019.7 ENSMUST00000023019.8 ENSMUST00000023019.9 MTU1_MOUSE Mtu1 NM_028063 Q9DAT5 Trmt1 uc007xdr.1 uc007xdr.2 uc007xdr.3 Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base. Reaction=5-taurinomethyluridine(34) in tRNA + AH2 + ATP + S-sulfanyl-L- cysteinyl-[protein] = 5-taurinomethyl-2-thiouridine(34) in tRNA + A + AMP + diphosphate + H(+) + L-cysteinyl-[protein]; Xref=Rhea:RHEA:47040, Rhea:RHEA-COMP:10131, Rhea:RHEA-COMP:11726, Rhea:RHEA-COMP:11732, Rhea:RHEA-COMP:11733, ChEBI:CHEBI:13193, ChEBI:CHEBI:15378, ChEBI:CHEBI:17499, ChEBI:CHEBI:29950, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:61963, ChEBI:CHEBI:87171, ChEBI:CHEBI:87172, ChEBI:CHEBI:456215; EC=2.8.1.14; Evidence=; Mitochondrion Widely expressed but most abundant in tissues with high metabolic rate including heart, liver and brain. Expression is low in spleen, testis, lung and skeletal muscle. Also expressed in inner ear. During the reaction, ATP is used to activate the C2 atom of U34 by adenylation. After this, the persulfide sulfur on the catalytic cysteine is transferred to the C2 atom of the wobble base (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). The reaction probably involves hydrogen sulfide that is generated from the persulfide intermediate and that acts as a nucleophile towards the activated C2 atom on U34. Subsequently, a transient disulfide bond is formed between the two active site cysteine residues (By similarity). Belongs to the MnmA/TRMU family. Was originally thought to be a 5-methylaminomethyl-2- methyltransferase involved in tRNA modification. tRNA binding nucleotide binding tRNA wobble position uridine thiolation RNA binding ATP binding nucleoplasm mitochondrion tRNA processing transferase activity sulfurtransferase activity uc007xdr.1 uc007xdr.2 uc007xdr.3 
ENSMUST00000023024.8 Tef ENSMUST00000023024.8 thyrotroph embryonic factor, transcript variant 1 (from RefSeq NM_017376.3) ENSMUST00000023024.1 ENSMUST00000023024.2 ENSMUST00000023024.3 ENSMUST00000023024.4 ENSMUST00000023024.5 ENSMUST00000023024.6 ENSMUST00000023024.7 NM_017376 Q3U426 Q3UGF4 Q3UM49 Q3URC8 Q6QHT6 Q8C6I0 Q8VD02 Q9JLC6 TEF_MOUSE uc007wxk.1 uc007wxk.2 uc007wxk.3 uc007wxk.4 Transcription factor that binds to and transactivates the TSHB promoter. Binds to a minimal DNA-binding sequence 5'- [TC][AG][AG]TTA[TC][AG]-3' (By similarity). Also activates the telokin promoter in smooth muscle-specific and calcium-dependent manner. Binds DNA as a homodimer or a heterodimer. Can form a heterodimer with DBP (By similarity). Nucleus Event=Alternative promoter usage; Named isoforms=3; Name=Alpha; IsoId=Q9JLC6-1; Sequence=Displayed; Name=Beta; IsoId=Q9JLC6-2; Sequence=VSP_011245; Name=2; IsoId=Q9JLC6-3; Sequence=VSP_011246; Isoform Alpha and isoform Beta are expressed at high levels in lung, bladder, kidney, gut and brain. Accumulates according to a robust circadian rhythm in liver and kidney. In liver nuclei, the amplitude of daily oscillation has been estimated to be 9-fold. Expressed at nearly constant level in the brain. Mice deficient for all three PAR bZIP proteins (DBP, HLF and TEF) display a dramatically shortened life span and are highly susceptible to generalized spontaneous and audiogenic epilepsies (due for example to the noise of a vacuum cleaner) that are frequently lethal. The down-regulation of pyridoxal kinase (Pdxk) expression in these mice may participate in this seizure phenotype. Belongs to the bZIP family. PAR subfamily. RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding double-stranded DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter protein homodimerization activity sequence-specific DNA binding positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity rhythmic process uc007wxk.1 uc007wxk.2 uc007wxk.3 uc007wxk.4 
ENSMUST00000023029.15 L3mbtl2 ENSMUST00000023029.15 L3MBTL2 polycomb repressive complex 1 subunit, transcript variant 2 (from RefSeq NM_145993.5) ENSMUST00000023029.1 ENSMUST00000023029.10 ENSMUST00000023029.11 ENSMUST00000023029.12 ENSMUST00000023029.13 ENSMUST00000023029.14 ENSMUST00000023029.2 ENSMUST00000023029.3 ENSMUST00000023029.4 ENSMUST00000023029.5 ENSMUST00000023029.6 ENSMUST00000023029.7 ENSMUST00000023029.8 ENSMUST00000023029.9 LMBL2_MOUSE NM_145993 P59178 Q8BHD5 uc007wwu.1 uc007wwu.2 uc007wwu.3 Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Its association with a chromatin-remodeling complex suggests that it may contribute to prevent expression of genes that trigger the cell into mitosis. Binds to monomethylated and dimethylated 'Lys-20' on histone H4. Binds histone H3 peptides that are monomethylated or dimethylated on 'Lys-4', 'Lys-9' or 'Lys-27' (By similarity). Part of the E2F6.com-1 complex in G0 phase composed of E2F6, MGA, MAX, TFDP1, CBX3, BAT8, EUHMTASE1, RING1, RNF2, MBLR, BAT8 and YAF2. Nucleus Ubiquitous. Phosphorylated. protein binding nucleus chromatin organization regulation of transcription, DNA-templated ectoderm development zinc ion binding negative regulation of gene expression positive regulation of histone methylation methylated histone binding negative regulation of histone acetylation histone binding metal ion binding stem cell differentiation stem cell proliferation promoter-specific chromatin binding uc007wwu.1 uc007wwu.2 uc007wwu.3 
ENSMUST00000023036.7 Rbx1 ENSMUST00000023036.7 ring-box 1 (from RefSeq NM_019712.3) ENSMUST00000023036.1 ENSMUST00000023036.2 ENSMUST00000023036.3 ENSMUST00000023036.4 ENSMUST00000023036.5 ENSMUST00000023036.6 NM_019712 P62878 Q8N6Z8 Q9D1S2 Q9WUK9 Q9Y254 RBX1_MOUSE Rbx1 uc007wwq.1 uc007wwq.2 uc007wwq.3 E3 ubiquitin ligase component of multiple cullin-RING-based E3 ubiquitin-protein ligase (CRLs) complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins, including proteins involved in cell cycle progression, signal transduction, transcription and transcription-coupled nucleotide excision repair (PubMed:22118460, PubMed:33590678). CRLs complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins, ARIH1 mediating addition of the first ubiquitin on CRLs targets (By similarity). The functional specificity of the E3 ubiquitin-protein ligase complexes depends on the variable substrate recognition components (By similarity). As a component of the CSA complex promotes the ubiquitination of ERCC6 resulting in proteasomal degradation (By similarity). Through the RING-type zinc finger, seems to recruit the E2 ubiquitination enzyme, like CDC34, to the complex and brings it into close proximity to the substrate (By similarity). Probably also stimulates CDC34 autoubiquitination (By similarity). May be required for histone H3 and histone H4 ubiquitination in response to ultraviolet and for subsequent DNA repair (By similarity). Promotes the neddylation of CUL1, CUL2, CUL4 and CUL4 via its interaction with UBE2M (By similarity). Involved in the ubiquitination of KEAP1, ENC1 and KLHL41 (By similarity). In concert with ATF2 and CUL3, promotes degradation of KAT5 thereby attenuating its ability to acetylate and activate ATM (By similarity). As part of a multisubunit complex composed of elongin BC complex (ELOB and ELOC), elongin A/ELOA, RBX1 and CUL5; polyubiquitinates monoubiquitinated POLR2A (By similarity). Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L- cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=; Reaction=S-[NEDD8-protein]-yl-[E2 NEDD8-conjugating enzyme]-L-cysteine + [cullin]-L-lysine = [E2 NEDD8-conjugating enzyme]-L-cysteine + N(6)-[NEDD8-protein]-yl-[cullin]-L-lysine.; EC=2.3.2.32; Evidence=; Protein modification; protein ubiquitination. Interacts with COPS6. Component of the DCX DET1-COP1 ubiquitin ligase complex at least composed of RBX1, DET1, DDB1, CUL4A and COP1. Part of an E3 ligase complex composed of RBX1, DDB1, DDB2 and CUL4A or CUL4B (PubMed:22118460). Interacts with CAND1 (PubMed:22118460). Interacts with UBE2M (By similarity). Part of a SCF complex consisting of CUL1, RBX1, SKP1 and SKP2. Part of a SCF-like complex consisting of CUL7, RBX1, SKP1 and FBXW8. Part of CBC(VHL) complexes with elongin BC complex (ELOB and ELOC), CUL2 or CUL5 and VHL. Part of the CSA complex (DCX(ERCC8) complex), a DCX E3 ubiquitin-protein ligase complex containing ERCC8, RBX1, DDB1 and CUL4A; the CSA complex interacts with RNA polymerase II; upon UV irradiation it interacts with the COP9 signalosome and preferentially with the hyperphosphorylated form of RNA polymerase II (By similarity). Part of multisubunit E3 ubiquitin ligase complexes with elongin BC complex (ELOB and ELOC), CUL2 and MED8; elongin BC complex (ELOB and ELOC), CUL5 and MUF1. Part of multisubunit complexes with elongin BC complex (ELOB and ELOC), SOCS1 or WSB1 and CUL5. Part of a multisubunit ubiquitin ligase complex consisting of elongin BC complex (ELOB and ELOC), elongin A/ELOA, RBX1 and CUL5 (By similarity). Interacts directly with CUL1 and probably also with CUL2, CUL3, CUL4A, CUL4B, CUL5 and CUL7. Interacts with CDC34. Interacts with GLMN. GLMN competes for the binding site of the E2 ubiquitin- conjugating enzyme CDC34 and disrupts CDC34 binding. Part of a SCF complex consisting of CUL1, RBX1, SKP1 and FBXO2. Part of a SCF complex consisting of CUL1, FBXO3, RBX1 and SKP1; this complex interacts with PML via FBXO3. Component of the SCF(Cyclin F) complex consisting of CUL1, RBX1, SKP1 and CCNF. Identified in a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin ligase complex together with HINT1 and CDC34 (By similarity). Component of multiple BCR (BTB-CUL3-RBX1) E3 ubiquitin- protein ligase complexes formed of CUL3, RBX1 and a variable BTB domain-containing protein. Part of the BCR(ENC1) complex containing ENC1. Part of the BCR(GAN) complex containing GAN. Part of the BCR(KLHL41) complex containing KLHL41. Part of the BCR(KEAP1) complex containing KEAP1 (By similarity). Interacts with SESN1 and SESN2 (By similarity). Interacts with NOTCH2 (By similarity). Component of the BCR(KLHL22) E3 ubiquitin ligase complex, at least composed of CUL3, KLHL22 and RBX1 (By similarity). Interacts with DCUN1D1, DCUN1D2, DCUN1D3, DCUN1D4 and DCUN1D5 (By similarity). Component of a BCR3 (BTB- CUL3-RBX1) E3 ubiquitin ligase complex, also named Cul3-RING ubiquitin ligase complex CUL3(KBTBD6/7), composed of CUL3, RBX1, KBTBD6 and KBTBD7 (By similarity). Component of the ECS(LRR1) complex with the substrate recognition component LRR1 (PubMed:33590678). P62878; P58004: SESN2; Xeno; NbExp=3; IntAct=EBI-2507414, EBI-3939642; Widely expressed (PubMed:10643962). Expressed in oocytes (at protein level) (PubMed:24357321). Expressed at high levels in zygotes and at lower levels in germinal vesicle (GV) stage oocytes and MII-stage oocytes. Expression strongly decreases from 2-cell stage to blastula. The RING-type zinc finger domain is essential for ubiquitin ligase activity (By similarity). It coordinates an additional third zinc ion (PubMed:22118460). Belongs to the RING-box family. ubiquitin ligase complex ubiquitin-protein transferase activity protein binding nucleus nucleoplasm anaphase-promoting complex cytoplasm cytosol DNA repair ubiquitin-dependent protein catabolic process protein monoubiquitination cellular response to DNA damage stimulus transcription factor binding eukaryotic initiation factor 4E binding zinc ion binding protein ubiquitination transferase activity SCF ubiquitin ligase complex NEDD8 transferase activity protein catabolic process VCB complex SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex Cul2-RING ubiquitin ligase complex Cul3-RING ubiquitin ligase complex Cul4A-RING E3 ubiquitin ligase complex Cul4B-RING E3 ubiquitin ligase complex Cul5-RING ubiquitin ligase complex Cul7-RING ubiquitin ligase complex ubiquitin protein ligase binding positive regulation of proteasomal ubiquitin-dependent protein catabolic process ubiquitin-ubiquitin ligase activity proteasome-mediated ubiquitin-dependent protein catabolic process nuclear SCF ubiquitin ligase complex macromolecular complex binding protein neddylation metal ion binding ubiquitin protein ligase activity Cul4-RING E3 ubiquitin ligase complex cullin family protein binding uc007wwq.1 uc007wwq.2 uc007wwq.3 
ENSMUST00000023040.9 Slc25a17 ENSMUST00000023040.9 solute carrier family 25 (mitochondrial carrier, peroxisomal membrane protein), member 17 (from RefSeq NM_011399.3) ENSMUST00000023040.1 ENSMUST00000023040.2 ENSMUST00000023040.3 ENSMUST00000023040.4 ENSMUST00000023040.5 ENSMUST00000023040.6 ENSMUST00000023040.7 ENSMUST00000023040.8 NM_011399 O70579 PM34_MOUSE Pmp34 Pmp35 uc007wwk.1 uc007wwk.2 uc007wwk.3 Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD), flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extent for nicotinamide adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3',5'-diphosphate (PAP). May catalyze the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter-exchange mechanism. Reaction=AMP(out) + CoA(in) = AMP(in) + CoA(out); Xref=Rhea:RHEA:73095, ChEBI:CHEBI:57287, ChEBI:CHEBI:456215; Evidence=; Reaction=3'-dephospho-CoA(in) + AMP(out) = 3'-dephospho-CoA(out) + AMP(in); Xref=Rhea:RHEA:73099, ChEBI:CHEBI:57328, ChEBI:CHEBI:456215; Evidence=; Reaction=acetyl-CoA(in) + AMP(out) = acetyl-CoA(out) + AMP(in); Xref=Rhea:RHEA:73447, ChEBI:CHEBI:57288, ChEBI:CHEBI:456215; Evidence=; Reaction=AMP(in) + NAD(+)(out) = AMP(out) + NAD(+)(in); Xref=Rhea:RHEA:65424, ChEBI:CHEBI:57540, ChEBI:CHEBI:456215; Evidence=; Reaction=AMP(out) + FAD(in) = AMP(in) + FAD(out); Xref=Rhea:RHEA:73087, ChEBI:CHEBI:57692, ChEBI:CHEBI:456215; Evidence=; Reaction=AMP(out) + FMN(in) = AMP(in) + FMN(out); Xref=Rhea:RHEA:73091, ChEBI:CHEBI:58210, ChEBI:CHEBI:456215; Evidence=; Reaction=ADP(out) + AMP(in) = ADP(in) + AMP(out); Xref=Rhea:RHEA:72851, ChEBI:CHEBI:456215, ChEBI:CHEBI:456216; Evidence=; Reaction=adenosine 3',5'-bisphosphate(in) + AMP(out) = adenosine 3',5'- bisphosphate(out) + AMP(in); Xref=Rhea:RHEA:73451, ChEBI:CHEBI:58343, ChEBI:CHEBI:456215; Evidence=; Reaction=CoA(out) + FAD(in) = CoA(in) + FAD(out); Xref=Rhea:RHEA:73143, ChEBI:CHEBI:57287, ChEBI:CHEBI:57692; Evidence=; Reaction=adenosine 3',5'-bisphosphate(out) + FAD(in) = adenosine 3',5'- bisphosphate(in) + FAD(out); Xref=Rhea:RHEA:73147, ChEBI:CHEBI:57692, ChEBI:CHEBI:58343; Evidence=; Reaction=CoA(out) + FMN(in) = CoA(in) + FMN(out); Xref=Rhea:RHEA:73151, ChEBI:CHEBI:57287, ChEBI:CHEBI:58210; Evidence=; Reaction=adenosine 3',5'-bisphosphate(out) + FMN(in) = adenosine 3',5'- bisphosphate(in) + FMN(out); Xref=Rhea:RHEA:73155, ChEBI:CHEBI:58210, ChEBI:CHEBI:58343; Evidence=; Reaction=FAD(out) + NAD(+)(in) = FAD(in) + NAD(+)(out); Xref=Rhea:RHEA:73163, ChEBI:CHEBI:57540, ChEBI:CHEBI:57692; Evidence=; Reaction=FMN(out) + NAD(+)(in) = FMN(in) + NAD(+)(out); Xref=Rhea:RHEA:73159, ChEBI:CHEBI:57540, ChEBI:CHEBI:58210; Evidence=; Reaction=CoA(out) + NAD(+)(in) = CoA(in) + NAD(+)(out); Xref=Rhea:RHEA:73167, ChEBI:CHEBI:57287, ChEBI:CHEBI:57540; Evidence=; Reaction=adenosine 3',5'-bisphosphate(out) + NAD(+)(in) = adenosine 3',5'-bisphosphate(in) + NAD(+)(out); Xref=Rhea:RHEA:73171, ChEBI:CHEBI:57540, ChEBI:CHEBI:58343; Evidence=; Reaction=ADP(in) + FMN(out) = ADP(out) + FMN(in); Xref=Rhea:RHEA:73175, ChEBI:CHEBI:58210, ChEBI:CHEBI:456216; Evidence=; Reaction=ADP(in) + FAD(out) = ADP(out) + FAD(in); Xref=Rhea:RHEA:73183, ChEBI:CHEBI:57692, ChEBI:CHEBI:456216; Evidence=; Reaction=ADP(out) + CoA(in) = ADP(in) + CoA(out); Xref=Rhea:RHEA:72839, ChEBI:CHEBI:57287, ChEBI:CHEBI:456216; Evidence=; Reaction=adenosine 3',5'-bisphosphate(in) + ADP(out) = adenosine 3',5'- bisphosphate(out) + ADP(in); Xref=Rhea:RHEA:72847, ChEBI:CHEBI:58343, ChEBI:CHEBI:456216; Evidence=; Interacts (via N- and C-terminus peroxisomal targeting regions) with PEX19; the interaction occurs with the newly synthesized SLC25A17 in the cytosol. Cytoplasm Peroxisome membrane ; Multi-pass membrane protein Expressed in liver, kidney, heart, spleen, muscle and lung. The N- and C-terminal portions are exposed to the cytoplasm. Lacks a typical peroxisomal sorting signal. A region between helical transmembrane domains (TM) 4 and 5 and TM1-TM3 or TM4-TM6 are necessary for the peroxisome-targeting activity. Belongs to the mitochondrial carrier (TC 2.A.29) family. ATP transmembrane transporter activity cytoplasm mitochondrion peroxisome peroxisomal membrane integral component of peroxisomal membrane fatty acid beta-oxidation ADP transmembrane transporter activity coenzyme A transmembrane transporter activity FAD transmembrane transporter activity ADP transport ATP transport fatty acid transport membrane integral component of membrane transmembrane transporter activity coenzyme A transmembrane transport FAD transmembrane transport NAD transmembrane transport NAD transport FMN transmembrane transporter activity chaperone binding NAD transporter activity transmembrane transport AMP transport AMP transmembrane transporter activity uc007wwk.1 uc007wwk.2 uc007wwk.3 
ENSMUST00000023043.10 Adsl ENSMUST00000023043.10 adenylosuccinate lyase (from RefSeq NM_009634.6) Adl ENSMUST00000023043.1 ENSMUST00000023043.2 ENSMUST00000023043.3 ENSMUST00000023043.4 ENSMUST00000023043.5 ENSMUST00000023043.6 ENSMUST00000023043.7 ENSMUST00000023043.8 ENSMUST00000023043.9 NM_009634 P54822 PUR8_MOUSE Q8VCD4 uc007wvz.1 uc007wvz.2 uc007wvz.3 uc007wvz.4 This gene encodes a protein that is involved in adenosine monophosphate (AMP) biosynthesis and maintaining AMP levels in the muscle. The encoded enzyme catalyzes the release of fumarate during AMP biosynthesis by cleaving the substrates succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide (AICA) ribotide, and adenylosuccinate to give adenylate. In humans, this gene is associated with adenylosuccinate deficiency, a rare autosomal disorder resulting in a spectrum of neurological symptoms. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Jan 2013]. ##Evidence-Data-START## Transcript exon combination :: AK049372.1, AK168906.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN00849374, SAMN00849375 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Catalyzes two non-sequential steps in de novo AMP synthesis: converts (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4- carboxamido)succinate (SAICAR) to fumarate plus 5-amino-1-(5-phospho-D- ribosyl)imidazole-4-carboxamide, and thereby also contributes to de novo IMP synthesis, and converts succinyladenosine monophosphate (SAMP) to AMP and fumarate. Reaction=N(6)-(1,2-dicarboxyethyl)-AMP = AMP + fumarate; Xref=Rhea:RHEA:16853, ChEBI:CHEBI:29806, ChEBI:CHEBI:57567, ChEBI:CHEBI:456215; EC=4.3.2.2; Evidence=; Reaction=(2S)-2-[5-amino-1-(5-phospho-beta-D-ribosyl)imidazole-4- carboxamido]succinate = 5-amino-1-(5-phospho-beta-D- ribosyl)imidazole-4-carboxamide + fumarate; Xref=Rhea:RHEA:23920, ChEBI:CHEBI:29806, ChEBI:CHEBI:58443, ChEBI:CHEBI:58475; EC=4.3.2.2; Evidence=; Purine metabolism; AMP biosynthesis via de novo pathway; AMP from IMP: step 2/2. Purine metabolism; IMP biosynthesis via de novo pathway; 5- amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide from 5-amino-1-(5- phospho-D-ribosyl)imidazole-4-carboxylate: step 2/2. Homotetramer. Residues from neighboring subunits contribute catalytic and substrate-binding residues to each active site. Belongs to the lyase 1 family. Adenylosuccinate lyase subfamily. response to hypoxia catalytic activity N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity mitochondrion cytosol purine nucleotide metabolic process purine nucleotide biosynthetic process AMP biosynthetic process 'de novo' IMP biosynthetic process response to nutrient aerobic respiration purine ribonucleotide biosynthetic process ribonucleoside monophosphate biosynthetic process response to muscle activity lyase activity response to starvation 'de novo' AMP biosynthetic process protein tetramerization (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity uc007wvz.1 uc007wvz.2 uc007wvz.3 uc007wvz.4 
ENSMUST00000023044.7 Fam83f ENSMUST00000023044.7 family with sequence similarity 83, member F, transcript variant 1 (from RefSeq NM_145986.3) A0A0R4J033 A0A0R4J033_MOUSE ENSMUST00000023044.1 ENSMUST00000023044.2 ENSMUST00000023044.3 ENSMUST00000023044.4 ENSMUST00000023044.5 ENSMUST00000023044.6 Fam83f NM_145986 uc007wvr.1 uc007wvr.2 Belongs to the FAM83 family. uc007wvr.1 uc007wvr.2 
ENSMUST00000023048.12 Mief1 ENSMUST00000023048.12 mitochondrial elongation factor 1, transcript variant 2 (from RefSeq NM_178719.6) ENSMUST00000023048.1 ENSMUST00000023048.10 ENSMUST00000023048.11 ENSMUST00000023048.2 ENSMUST00000023048.3 ENSMUST00000023048.4 ENSMUST00000023048.5 ENSMUST00000023048.6 ENSMUST00000023048.7 ENSMUST00000023048.8 ENSMUST00000023048.9 MID51_MOUSE Mid51 NM_178719 Q8BGV8 Q8C4Y9 Smcr7l uc007wvi.1 uc007wvi.2 uc007wvi.3 uc007wvi.4 Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assembly of DNM1L into long, oligomeric tubules with a spiral pattern, as opposed to the ring-like DNM1L oligomers observed in the absence of bound ADP. Does not require ADP for its function in recruiting DNM1L. Homodimer. Interacts with DNM1L. Q8BGV8; Q8K1M6: Dnm1l; NbExp=2; IntAct=EBI-16092561, EBI-2365792; Q8BGV8; Q8K1M6-3: Dnm1l; NbExp=5; IntAct=EBI-16092561, EBI-16092613; Q8BGV8; Q8BGV8: Mief1; NbExp=2; IntAct=EBI-16092561, EBI-16092561; Mitochondrion outer membrane ; Single-pass membrane protein Belongs to the MID49/MID51 family. nucleotide binding mitochondrial fission protein binding mitochondrion mitochondrial outer membrane mitochondrial matrix membrane integral component of membrane GDP binding identical protein binding ADP binding positive regulation of mitochondrial translation cellular response to hypoxia positive regulation of mitochondrial fission positive regulation of protein targeting to membrane mitochondrial large ribosomal subunit uc007wvi.1 uc007wvi.2 uc007wvi.3 uc007wvi.4 
ENSMUST00000023050.9 Tab1 ENSMUST00000023050.9 TGF-beta activated kinase 1/MAP3K7 binding protein 1 (from RefSeq NM_025609.3) ENSMUST00000023050.1 ENSMUST00000023050.2 ENSMUST00000023050.3 ENSMUST00000023050.4 ENSMUST00000023050.5 ENSMUST00000023050.6 ENSMUST00000023050.7 ENSMUST00000023050.8 Map3k7ip1 NM_025609 Q7TQJ5 Q80V65 Q8CF89 Q8R0D1 TAB1_MOUSE uc007wve.1 uc007wve.2 uc007wve.3 Key adapter protein that plays an essential role in JNK and NF-kappa-B activation and proinflammatory cytokines production in response to stimulation with TLRs and cytokines (PubMed:12464436, PubMed:28073917). Mechanistically, associates with the catalytic domain of MAP3K7/TAK1 to trigger MAP3K7/TAK1 autophosphorylation leading to its full activation. Similarly, associates with MAPK14 and triggers its autophosphorylation and subsequent activation (PubMed:24037507). In turn, MAPK14 phosphorylates TAB1 and inhibits MAP3K7/TAK1 activation in a feedback control mechanism. Plays also a role in recruiting MAPK14 to the TAK1 complex for the phosphorylation of the TAB2 and TAB3 regulatory subunits (By similarity). Interacts with XIAP and BIRC7. Interacts with TRAF6 and MAP3K7; during IL-1 signaling. Identified in the TRIKA2 complex composed of MAP3K7, TAB1 and TAB2. Interacts with TRAF6 and MAPK14; these interactions allow MAPK14 autophosphorylation. Q8CF89; P53349: Map3k1; NbExp=4; IntAct=EBI-1778503, EBI-447913; Q8CF89; Q62073: Map3k7; NbExp=2; IntAct=EBI-1778503, EBI-1775345; Q8CF89; Q86Y07-1: VRK2; Xeno; NbExp=2; IntAct=EBI-1778503, EBI-1207633; Phosphorylated at all three sites Ser-421, Thr-429 and Ser-436 by MAPK14 when cells were exposed to cellular stresses, or stimulated with TNF-alpha, IL1 or LPS. These phosphorylations inhibit TAK1 activation by a feedback control mechanism. Dephosphorylated by DUSP14 at Ser-436, leading to TAB1-MAP3K7/TAK1 complex inactivation in T-cells. Ubiquitinated by MAP3K1 with 'Lys-63'-linked polyubiquitin; leading to activation of TAK1 and of JNK and p38 MAP kinases following EGF and TGF-beta stimulation. Ubiquitinated by ITCH with 'Lys-48'- linked polyubiquitin; leading to proteasomal degradation (By similarity). Ubiquitinated by RNF114 during maternal-to-zygotic transition; leading to degradation (PubMed:28073917). O-GlcNAcylated at Ser-393 is required for full MAP3K7/TAK1 activation upon stimulation with IL-1 or osmotic stress. Mutant mice die in the late stages of gestation, exhibiting edema and severe embryonic hemorrhage. Lacks several key residues involved in metal-binding and catalytic activity, therefore has lost phosphatase activity. activation of MAPKKK activity in utero embryonic development heart morphogenesis cardiac septum development catalytic activity protein serine/threonine phosphatase activity magnesium-dependent protein serine/threonine phosphatase activity protein binding nucleus cytosol protein dephosphorylation transforming growth factor beta receptor signaling pathway nuclear speck kinase activator activity lung development macromolecular complex aorta development positive regulation of MAP kinase activity macromolecular complex binding mitogen-activated protein kinase p38 binding coronary vasculature development uc007wve.1 uc007wve.2 uc007wve.3 
ENSMUST00000023057.10 Nptxr ENSMUST00000023057.10 neuronal pentraxin receptor (from RefSeq NM_030689.4) A0A9R1SP20 A0A9R1SP20_MOUSE ENSMUST00000023057.1 ENSMUST00000023057.2 ENSMUST00000023057.3 ENSMUST00000023057.4 ENSMUST00000023057.5 ENSMUST00000023057.6 ENSMUST00000023057.7 ENSMUST00000023057.8 ENSMUST00000023057.9 NM_030689 Nptxr uc007wul.1 uc007wul.2 uc007wul.3 uc007wul.4 This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG) codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC058962.1, AK147605.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMN01164131, SAMN01164132 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## non-AUG initiation codon :: inferred from conservation RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Lacks conserved residue(s) required for the propagation of feature annotation. uc007wul.1 uc007wul.2 uc007wul.3 uc007wul.4 
ENSMUST00000023059.13 Dscc1 ENSMUST00000023059.13 DNA replication and sister chromatid cohesion 1, transcript variant 2 (from RefSeq NM_183089.3) DCC1 DCC1_MOUSE DSCC1 ENSMUST00000023059.1 ENSMUST00000023059.10 ENSMUST00000023059.11 ENSMUST00000023059.12 ENSMUST00000023059.2 ENSMUST00000023059.3 ENSMUST00000023059.4 ENSMUST00000023059.5 ENSMUST00000023059.6 ENSMUST00000023059.7 ENSMUST00000023059.8 ENSMUST00000023059.9 NM_183089 Q14AI0 Q4FZL5 uc007vrw.1 uc007vrw.2 uc007vrw.3 Loads PCNA onto primed templates regulating velocity, spacing and restart activity of replication forks. May couple DNA replication to sister chromatid cohesion through regulation of the acetylation of the cohesin subunit SMC3 (By similarity). Component of the CTF18-RFC complex which consists of CTF8, CTF18, DSCC1 and the RFC complex. Interacts with CTF8 and CTF18. Interacts with DDX11. Nucleus Belongs to the DCC1 family. chromosome, centromeric region chromatin DNA binding DNA clamp loader activity nucleus nucleoplasm DNA replication regulation of DNA replication cell cycle mitotic sister chromatid cohesion single-stranded DNA-dependent ATP-dependent DNA helicase activity Ctf18 RFC-like complex DNA duplex unwinding maintenance of mitotic sister chromatid cohesion post-translational protein acetylation positive regulation of DNA-directed DNA polymerase activity uc007vrw.1 uc007vrw.2 uc007vrw.3 
ENSMUST00000023060.13 Npcd ENSMUST00000023060.13 neuronal pentraxin chromo domain, transcript variant 1 (from RefSeq NM_001013360.2) ENSMUST00000023060.1 ENSMUST00000023060.10 ENSMUST00000023060.11 ENSMUST00000023060.12 ENSMUST00000023060.2 ENSMUST00000023060.3 ENSMUST00000023060.4 ENSMUST00000023060.5 ENSMUST00000023060.6 ENSMUST00000023060.7 ENSMUST00000023060.8 ENSMUST00000023060.9 H3BLN6 H3BLN6_MOUSE NM_001013360 Npcd uc007wun.1 uc007wun.2 uc007wun.3 This gene encodes multiple cytoplasmic proteins composed of a neuronal pentraxin domain linked to a chromo domain. These isoforms are expressed in numerous regions of the central nervous system, where they are present in distinct subcellular arrangements in different brain regions. This gene may play a role in neuronal differentiation. [provided by RefSeq, Jul 2008]. Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Evidence=; Lacks conserved residue(s) required for the propagation of feature annotation. nucleus cytoplasm cytosol cytoplasmic side of plasma membrane protein domain specific binding filopodium dendrite growth cone neuronal cell body uc007wun.1 uc007wun.2 uc007wun.3 
ENSMUST00000023061.7 Josd1 ENSMUST00000023061.7 Josephin domain containing 1 (from RefSeq NM_028792.3) ENSMUST00000023061.1 ENSMUST00000023061.2 ENSMUST00000023061.3 ENSMUST00000023061.4 ENSMUST00000023061.5 ENSMUST00000023061.6 JOS1_MOUSE NM_028792 Q3U3E9 Q9DBJ6 uc007wue.1 uc007wue.2 uc007wue.3 uc007wue.4 Deubiquitinates monoubiquitinated probes (in vitro). When ubiquitinated, cleaves 'Lys-63'-linked and 'Lys-48'-linked poly- ubiquitin chains (in vitro), hence may act as a deubiquitinating enzyme. May increase macropinocytosis and suppress clathrin- and caveolae-mediated endocytosis. May enhance membrane dynamics and cell motility independently of its catalytic activity (By similarity). Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76- residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Interacts with beta-actin/ACTB. Cell membrane Cytoplasm Note=Ubiquitination increases localization the plasma membrane. In the cytosol, the unubiquitinated form may be associated with the cytoskeleton via ACTB-binding. Widely expressed (at protein level). Monoubiquitinated. Ubiquitination activates deubiquitination activity in vitro. thiol-dependent ubiquitin-specific protease activity cellular_component cytoplasm plasma membrane proteolysis peptidase activity membrane protein deubiquitination hydrolase activity thiol-dependent ubiquitinyl hydrolase activity uc007wue.1 uc007wue.2 uc007wue.3 uc007wue.4 
ENSMUST00000023062.5 Tomm22 ENSMUST00000023062.5 translocase of outer mitochondrial membrane 22 (from RefSeq NM_172609.3) ENSMUST00000023062.1 ENSMUST00000023062.2 ENSMUST00000023062.3 ENSMUST00000023062.4 NM_172609 Q543M4 Q9CPQ3 Q9D8D3 TOM22_MOUSE Tom22 uc007wud.1 uc007wud.2 uc007wud.3 Central receptor component of the translocase of the outer membrane of mitochondria (TOM complex) responsible for the recognition and translocation of cytosolically synthesized mitochondrial preproteins. Together with the peripheral receptor TOM20 functions as the transit peptide receptor and facilitates the movement of preproteins into the translocation pore (By similarity). Required for the translocation across the mitochondrial outer membrane of cytochrome P450 monooxygenases (By similarity). Forms part of the preprotein translocase complex of the outer mitochondrial membrane (TOM complex) which consists of at least 7 different proteins (TOMM5, TOMM6, TOMM7, TOMM20, TOMM22, TOMM40 and TOMM70). Interacts with PPP2R2B and TOMM40 (By similarity). Mitochondrion outer membrane ; Single-pass membrane protein The N-terminal domain (residues 1-62) is important for binding to the unfolded mature imported proteins. Residues (49-71) of the cytoplasmic domain interacts with TOMM20 while the C-terminal segment (residues 63-82) binds presequence of preproteins. Requires the transmembrane domain (TMD), a short segment (the import sequence) in the cytoplasmic domain localizing separately from the TMD and the C- tail signal in the C-terminal domain for efficient targeting and integration into the TOM complex (By similarity). Belongs to the Tom22 family. protein binding mitochondrion mitochondrial outer membrane mitochondrial outer membrane translocase complex mitochondrial inner membrane protein targeting to mitochondrion intracellular protein transport protein transmembrane transporter activity protein transport membrane integral component of membrane positive regulation of apoptotic process protein import into mitochondrial outer membrane protein insertion into mitochondrial membrane protein transmembrane transport uc007wud.1 uc007wud.2 uc007wud.3 
ENSMUST00000023064.9 Cby1 ENSMUST00000023064.9 chibby family member 1, beta catenin antagonist, transcript variant 1 (from RefSeq NM_028634.4) CBY1_MOUSE Cby ENSMUST00000023064.1 ENSMUST00000023064.2 ENSMUST00000023064.3 ENSMUST00000023064.4 ENSMUST00000023064.5 ENSMUST00000023064.6 ENSMUST00000023064.7 ENSMUST00000023064.8 NM_028634 Pgea1 Q9D1C2 uc007wuc.1 uc007wuc.2 uc007wuc.3 Inhibits the Wnt/Wingless pathway by binding to CTNNB1/beta- catenin and inhibiting beta-catenin-mediated transcriptional activation through competition with TCF/LEF transcription factors. Has also been shown to play a role in regulating the intracellular trafficking of polycystin-2/PKD2 and possibly of other intracellular proteins. Promotes adipocyte and cardiomyocyte differentiation. Homodimer. Interacts with polycystin-2/PKD2 and GM130. Interacts with the C-terminal region of CTNNB1. Interacts (C-terminus) with TCIM (C-terminus), TCIM competes with CTNNB1 for the interaction with CBY1. Interacts with FAM92A; this interaction facilitates targeting of FAM92A to cilium basal body. Interacts with CIBAR2. Nucleus speckle Cytoplasm, cytoskeleton, cilium basal body Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole Golgi apparatus Golgi apparatus, trans-Golgi network Found in heart, brain, lung, liver, muscle, kidney and testis. Levels are approximately 3-fold higher in embryonic and adult heart than in lung or liver. Ubiquitously expressed in early stages of embryonic stem cell differentiation but decreases at later stages when high expression is restricted to cardiomyocytes. 'Chibby' is Japanese for 'small'; the gene was so named for the RNAi phenotype seen in flies. Belongs to the chibby family. nucleus cytoplasm Golgi apparatus trans-Golgi network centriole cytoskeleton beta-catenin binding protein localization nuclear speck cell projection organization cell differentiation negative regulation of Wnt signaling pathway ciliary basal body identical protein binding protein homodimerization activity cell projection fat cell differentiation negative regulation of transcription, DNA-templated protein homotetramerization cardiac muscle cell differentiation cilium assembly negative regulation of canonical Wnt signaling pathway ciliary transition zone assembly uc007wuc.1 uc007wuc.2 uc007wuc.3 
ENSMUST00000023065.8 Dmc1 ENSMUST00000023065.8 DNA meiotic recombinase 1, transcript variant 1 (from RefSeq NM_010059.3) DMC1_MOUSE Dmc1 Dmc1h ENSMUST00000023065.1 ENSMUST00000023065.2 ENSMUST00000023065.3 ENSMUST00000023065.4 ENSMUST00000023065.5 ENSMUST00000023065.6 ENSMUST00000023065.7 Lim15 NM_010059 Q61880 uc007wtu.1 uc007wtu.2 uc007wtu.3 uc007wtu.4 uc007wtu.5 This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. In mouse, deficiency of this gene causes infertility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]. Participates in meiotic recombination, specifically in homologous strand assimilation, which is required for the resolution of meiotic double-strand breaks. Double stacked ring-shaped homooctamer (By similarity). Interacts with BRCA2 (By similarity). Interacts with the MND1-PSMC3IP heterodimer (PubMed:15834424). Interacts with RAD51AP1; the interaction is direct and stimulates DMC1-mediated homologous recombination (By similarity). Nucleus Chromosome Testis. In spermatocytes, shows punctate localization along chromosome axes specifically in early meiotic prophase I cells. Foci start to appear from the leptotene stage, reach their greatest number in the zygotene stage, in the early pachytene stage, the DMC1 foci mostly disappeared from autosomes and became restricted to the sex chromosomes. Belongs to the RecA family. DMC1 subfamily. recombinase activity nucleotide binding DNA recombinase assembly chromosome, telomeric region condensed nuclear chromosome ovarian follicle development oocyte maturation DNA binding double-stranded DNA binding single-stranded DNA binding ATP binding nucleus nucleoplasm chromosome DNA metabolic process DNA repair mitotic recombination cell cycle synapsis reciprocal meiotic recombination male meiosis I gamete generation spermatogenesis spermatid development DNA-dependent ATPase activity ATPase activity strand invasion meiotic cell cycle uc007wtu.1 uc007wtu.2 uc007wtu.3 uc007wtu.4 uc007wtu.5 
ENSMUST00000023067.4 Ribc2 ENSMUST00000023067.4 RIB43A domain with coiled-coils 2, transcript variant 3 (from RefSeq NR_164346.1) ENSMUST00000023067.1 ENSMUST00000023067.2 ENSMUST00000023067.3 G3X8W0 NR_164346 Q9D4Q1 RIBC2_MOUSE Ribc2 uc007xcz.1 uc007xcz.2 uc007xcz.3 uc007xcz.4 Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating. Cytoplasm, cytoskeleton, cilium axoneme Belongs to the RIB43A family. Sequence=AAI12374.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAB30190.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; molecular_function biological_process uc007xcz.1 uc007xcz.2 uc007xcz.3 uc007xcz.4 
ENSMUST00000023068.8 Smc1b ENSMUST00000023068.8 structural maintenance of chromosomes 1B (from RefSeq NM_080470.1) ENSMUST00000023068.1 ENSMUST00000023068.2 ENSMUST00000023068.3 ENSMUST00000023068.4 ENSMUST00000023068.5 ENSMUST00000023068.6 ENSMUST00000023068.7 NM_080470 Q920F6 SMC1B_MOUSE Smc1l2 uc007xcx.1 uc007xcx.2 uc007xcx.3 Meiosis-specific component of cohesin complex. Required for the maintenance of meiotic cohesion, but not, or only to a minor extent, for its establishment. Contributes to axial element (AE) formation and the organization of chromatin loops along the AE. Plays a key role in synapsis, recombination and chromosome movements. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I. Forms a heterodimer with SMC3. Component of a meiosis-specific cohesin complex, probably composed of the SMC1B and SMC3 heterodimer attached via their SMC hinge domain, RAD21 (or its meiosis-specific related protein REC8), which link them, and STAG3, which interacts with RAD21 or REC8. The cohesin complex interacts with the cohesin loading complex subunits NIPBL/Scc2 (via HEAT repeats) and MAU2/Scc4. NIPBL directly contacts all members of the complex, RAD21, SMC1A/B, SMC3 and STAG1 (By similarity). Nucleus Chromosome Chromosome, centromere Note=Associates with chromatin. In prophase I stage of meiosis, localizes along the AE of synaptonemal complexes. In late-pachytene-diplotene, the bulk of protein dissociates from the chromosome arms probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. Remains chromatin associated at the centromeres up to metaphase II. At anaphase II, dissociates from centromeres, allowing chromosomes segregation. Spermatocytes (at protein level). Testis and ovary specific. Not expressed in somatic cells. The flexible SMC hinge domain, which separates the large intramolecular coiled coil regions, allows the heterotypic interaction with the corresponding domain of SMC3, forming a V-shaped heterodimer. The two heads of the heterodimer are then connected by different ends of the cleavable RAD21 or REC8 protein, forming a ring structure (By similarity). Belongs to the SMC family. SMC1 subfamily. nucleotide binding chromosome, centromeric region condensed nuclear chromosome synaptonemal complex lateral element DNA binding protein binding ATP binding nucleus nucleoplasm chromosome cytosol cell cycle sister chromatid cohesion meiotic cohesin complex nuclear meiotic cohesin complex chromosome organization meiotic cell cycle uc007xcx.1 uc007xcx.2 uc007xcx.3 
ENSMUST00000023069.9 Fam118a ENSMUST00000023069.9 family with sequence similarity 118, member A, transcript variant 12 (from RefSeq NR_166140.1) ENSMUST00000023069.1 ENSMUST00000023069.2 ENSMUST00000023069.3 ENSMUST00000023069.4 ENSMUST00000023069.5 ENSMUST00000023069.6 ENSMUST00000023069.7 ENSMUST00000023069.8 F118A_MOUSE NR_166140 Q3UP97 Q8C4H6 Q8C5E1 Q91YN1 uc007xcv.1 uc007xcv.2 uc007xcv.3 uc007xcv.4 Membrane ; Single-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q91YN1-1; Sequence=Displayed; Name=2; IsoId=Q91YN1-2; Sequence=VSP_014460, VSP_014461; Belongs to the FAM118 family. cellular_component biological_process membrane integral component of membrane identical protein binding uc007xcv.1 uc007xcv.2 uc007xcv.3 uc007xcv.4 
ENSMUST00000023070.7 Upk3a ENSMUST00000023070.7 uroplakin 3A (from RefSeq NM_023478.2) ENSMUST00000023070.1 ENSMUST00000023070.2 ENSMUST00000023070.3 ENSMUST00000023070.4 ENSMUST00000023070.5 ENSMUST00000023070.6 NM_023478 Q27QV3 Q9JKX8 UPK3A_MOUSE Upk3 uc007xcs.1 uc007xcs.2 uc007xcs.3 uc007xcs.4 Component of the asymmetric unit membrane (AUM); a highly specialized biomembrane elaborated by terminally differentiated urothelial cells. May play an important role in AUM-cytoskeleton interaction in terminally differentiated urothelial cells. It also contributes to the formation of urothelial glycocalyx which may play an important role in preventing bacterial adherence (By similarity). Heterodimer with uroplakin-1B (UPK1B). Endoplasmic reticulum membrane ; Single-pass type I membrane protein Note=Heterodimer formation with UPK1B is a prerequisite to exit out of the endoplasmic reticulum (ER). Belongs to the uroplakin-3 family. cell morphogenesis kidney development protein binding endoplasmic reticulum endoplasmic reticulum membrane water transport urea transport membrane integral component of membrane apical plasma membrane epithelial cell differentiation potassium ion homeostasis sodium ion homeostasis urinary bladder development uc007xcs.1 uc007xcs.2 uc007xcs.3 uc007xcs.4 
ENSMUST00000023071.8 Samm50 ENSMUST00000023071.8 SAMM50 sorting and assembly machinery component (from RefSeq NM_178614.5) ENSMUST00000023071.1 ENSMUST00000023071.2 ENSMUST00000023071.3 ENSMUST00000023071.4 ENSMUST00000023071.5 ENSMUST00000023071.6 ENSMUST00000023071.7 NM_178614 Q3TIL3 Q3TTG7 Q3TWD3 Q8BGH2 SAM50_MOUSE uc007xbx.1 uc007xbx.2 uc007xbx.3 Plays a crucial role in the maintenance of the structure of mitochondrial cristae and the proper assembly of the mitochondrial respiratory chain complexes. Required for the assembly of TOMM40 into the TOM complex. Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13. This complex was also known under the names MINOS or MitOS complex (By similarity). The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9 (By similarity). The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex (By similarity). Interacts with IMMT/MIC60 (By similarity). Interacts with CHCHD3/MIC19 (PubMed:21081504). Interacts with ARMC1 (By similarity). (Microbial infection) Interacts with parasite T.gondii RH strain MAF1b1; the interaction is probably indirect and results in the disruption of the MIB complex and the formation of SPOTs (structures positive for outer mitochondrial membrane (OMM)), a cellular response to OMM stress, which leads to the constitutive shedding of OMM vesicles. Mitochondrion outer membrane ; Multi-pass membrane protein Cytoplasm Mitochondrion Its C-terminal part seems to contain many membrane-spanning sided beta-sheets, that have the potential to adopt a transmembrane beta-barrel type structure. Belongs to the SAM50/omp85 family. mitochondrial sorting and assembly machinery complex protein binding cytoplasm mitochondrion mitochondrial outer membrane mitochondrial inner membrane membrane integral component of membrane outer membrane mitochondrial respiratory chain complex assembly cellular macromolecular complex assembly cristae formation protein import into mitochondrial outer membrane uc007xbx.1 uc007xbx.2 uc007xbx.3 
ENSMUST00000023072.7 Parvb ENSMUST00000023072.7 parvin, beta (from RefSeq NM_133167.3) ENSMUST00000023072.1 ENSMUST00000023072.2 ENSMUST00000023072.3 ENSMUST00000023072.4 ENSMUST00000023072.5 ENSMUST00000023072.6 NM_133167 PARVB_MOUSE Q9ES46 uc007xby.1 uc007xby.2 uc007xby.3 Adapter protein that plays a role in integrin signaling via ILK and in activation of the GTPases CDC42 and RAC1 by guanine exchange factors, such as ARHGEF6. Is involved in the reorganization of the actin cytoskeleton and formation of lamellipodia. Plays a role in cell adhesion, cell spreading, establishment or maintenance of cell polarity, and cell migration (By similarity). Interacts with ILK, ARHGEF6, PXN (via LD motifs), ACTN2 and actin (By similarity). Interacts with DYSF. Q9ES46; Q9ES28: Arhgef7; NbExp=2; IntAct=EBI-6914996, EBI-642580; Q9ES46; Q64691: Capn3; NbExp=3; IntAct=EBI-6914996, EBI-21927513; Q9ES46; O55222: Ilk; NbExp=3; IntAct=EBI-6914996, EBI-6690138; Cell junction, focal adhesion. Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasm, cytoskeleton Cell projection, lamellipodium Cytoplasm, myofibril, sarcomere Cytoplasm, myofibril, sarcomere, Z line Note=Constituent of focal adhesions. Detected at the tips of the leading edge of cells. Colocalizes with F-actin at the tips of lamellipodia (By similarity). Expressed predominantly in heart and moderately in spleen, lung and skeletal muscle. Phosphorylated by ILK. Belongs to the parvin family. actin binding protein binding cytoplasm cytoskeleton plasma membrane focal adhesion cell adhesion establishment or maintenance of cell polarity actin cytoskeleton membrane sarcomere Z disc lamellipodium cell projection assembly lamellipodium assembly cell junction actin cytoskeleton reorganization substrate adhesion-dependent cell spreading cell projection establishment or maintenance of cell polarity regulating cell shape uc007xby.1 uc007xby.2 uc007xby.3 
ENSMUST00000023074.9 Parvg ENSMUST00000023074.9 parvin, gamma, transcript variant 2 (from RefSeq NM_022321.4) ENSMUST00000023074.1 ENSMUST00000023074.2 ENSMUST00000023074.3 ENSMUST00000023074.4 ENSMUST00000023074.5 ENSMUST00000023074.6 ENSMUST00000023074.7 ENSMUST00000023074.8 NM_022321 PARVG_MOUSE Q8BH45 Q91X89 Q9ERD8 uc007xbz.1 uc007xbz.2 uc007xbz.3 uc007xbz.4 Probably plays a role in the regulation of cell adhesion and cytoskeleton organization. Interacts with integrin-linked protein kinase and actin. Cell junction, focal adhesion. Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasm, cytoskeleton Note=Constituent of focal adhesions. Expressed strongly in spleen and testis, moderately in lung and weakly in brain and heart. Belongs to the parvin family. actin binding cytoplasm cytoskeleton plasma membrane focal adhesion cell adhesion establishment or maintenance of cell polarity actin cytoskeleton membrane cell projection assembly cell junction actin cytoskeleton reorganization substrate adhesion-dependent cell spreading uc007xbz.1 uc007xbz.2 uc007xbz.3 uc007xbz.4 
ENSMUST00000023075.9 C1qtnf6 ENSMUST00000023075.9 C1q and tumor necrosis factor related protein 6, transcript variant 1 (from RefSeq NM_028331.5) C1QT6_MOUSE ENSMUST00000023075.1 ENSMUST00000023075.2 ENSMUST00000023075.3 ENSMUST00000023075.4 ENSMUST00000023075.5 ENSMUST00000023075.6 ENSMUST00000023075.7 ENSMUST00000023075.8 NM_028331 Q6IR41 Q8BKR0 uc007wpn.1 uc007wpn.2 uc007wpn.3 uc007wpn.4 Secreted protein binding extracellular region collagen trimer extracellular space macromolecular complex identical protein binding uc007wpn.1 uc007wpn.2 uc007wpn.3 uc007wpn.4 
ENSMUST00000023083.9 Cyp2d22 ENSMUST00000023083.9 cytochrome P450, family 2, subfamily d, polypeptide 22, transcript variant 2 (from RefSeq NM_019823.4) Cyp2d22 ENSMUST00000023083.1 ENSMUST00000023083.2 ENSMUST00000023083.3 ENSMUST00000023083.4 ENSMUST00000023083.5 ENSMUST00000023083.6 ENSMUST00000023083.7 ENSMUST00000023083.8 NM_019823 Q9JKY7 Q9JKY7_MOUSE uc007wze.1 uc007wze.2 uc007wze.3 uc007wze.4 Cytochromes P450 are a group of heme-thiolate monooxygenases. In liver microsomes, this enzyme is involved in an NADPH-dependent electron transport pathway. It oxidizes a variety of structurally unrelated compounds, including steroids, fatty acids, and xenobiotics. Name=heme; Xref=ChEBI:CHEBI:30413; Evidence= Endoplasmic reticulum membrane Microsome membrane Belongs to the cytochrome P450 family. monooxygenase activity iron ion binding cytoplasm organic acid metabolic process serotonin biosynthetic process from tryptophan xenobiotic metabolic process female pregnancy C21-steroid hormone metabolic process arachidonic acid monooxygenase activity steroid hydroxylase activity response to organic substance membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen drug metabolic process arachidonic acid metabolic process heme binding dopamine biosynthetic process dopamine metabolic process exogenous drug catabolic process intracellular membrane-bounded organelle metal ion binding oxidation-reduction process uc007wze.1 uc007wze.2 uc007wze.3 uc007wze.4 
ENSMUST00000023085.7 Ndufa6 ENSMUST00000023085.7 NADH:ubiquinone oxidoreductase subunit A6 (from RefSeq NM_025987.4) ENSMUST00000023085.1 ENSMUST00000023085.2 ENSMUST00000023085.3 ENSMUST00000023085.4 ENSMUST00000023085.5 ENSMUST00000023085.6 NDUA6_MOUSE NM_025987 Ndufa6 Q9CQZ5 uc007wzc.1 uc007wzc.2 uc007wzc.3 uc007wzc.4 Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Required for proper complex I assembly. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Mammalian complex I is composed of 45 different subunits. Mitochondrion inner membrane ; Peripheral membrane protein ; Matrix side Belongs to the complex I LYR family. molecular_function mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I response to oxidative stress membrane mitochondrial membrane mitochondrial respiratory chain complex I assembly oxidation-reduction process respiratory chain uc007wzc.1 uc007wzc.2 uc007wzc.3 uc007wzc.4 
ENSMUST00000023086.15 Smdt1 ENSMUST00000023086.15 single-pass membrane protein with aspartate rich tail 1 (from RefSeq NM_026914.1) EMRE_MOUSE ENSMUST00000023086.1 ENSMUST00000023086.10 ENSMUST00000023086.11 ENSMUST00000023086.12 ENSMUST00000023086.13 ENSMUST00000023086.14 ENSMUST00000023086.2 ENSMUST00000023086.3 ENSMUST00000023086.4 ENSMUST00000023086.5 ENSMUST00000023086.6 ENSMUST00000023086.7 ENSMUST00000023086.8 ENSMUST00000023086.9 Emre NM_026914 Q58EA5 Q9DB10 Smdt1 uc007wzb.1 uc007wzb.2 uc007wzb.3 Essential regulatory subunit of the mitochondrial calcium uniporter complex (uniplex), a complex that mediates calcium uptake into mitochondria (PubMed:27001609). Required to bridge the calcium- sensing proteins MICU1 and MICU2 with the calcium-conducting subunit MCU. Plays a central role in regulating the uniplex complex response to intracellular calcium signaling. Acts by mediating activation of MCU and retention of MICU1 to the MCU pore, in order to ensure tight regulation of the uniplex complex and appropriate responses to intracellular calcium signaling (By simila