ENST00000000233.10 ARF5 ENST00000000233.10 Homo sapiens ADP ribosylation factor 5 (ARF5), mRNA. (from RefSeq NM_001662) ARF5_HUMAN ENST00000000233.1 ENST00000000233.2 ENST00000000233.3 ENST00000000233.4 ENST00000000233.5 ENST00000000233.6 ENST00000000233.7 ENST00000000233.8 ENST00000000233.9 NM_001662 P26437 P84085 uc003vmb.1 uc003vmb.2 uc003vmb.3 uc003vmb.4 This gene is a member of the human ADP-ribosylation factor (ARF) gene family. These genes encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 6 ARF proteins and 11 ARF-like proteins and constitute 1 family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2,and ARF3), class II (ARF4 and ARF5) and class III (ARF6). The members of each class share a common gene organization. [provided by RefSeq, Dec 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 :: BC033104.1, SRR3476690.883380.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000000233.10/ ENSP00000000233.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## GTP-binding protein involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus. (Microbial infection) Functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. 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 (PubMed:10022920). Interacts with NCS1/FREQ at the Golgi complex (PubMed:17555535). Interacts with RAB11FIP3 and RAB11FIP4 (PubMed:17030804). P84085; Q96HD9: ACY3; NbExp=3; IntAct=EBI-4289908, EBI-3916242; P84085; Q8N9I9: DTX3; NbExp=3; IntAct=EBI-4289908, EBI-2340258; Golgi apparatus Cytoplasm, perinuclear region Membrane ; Lipid-anchor Golgi apparatus, trans-Golgi network membrane ; Lipid-anchor Belongs to the small GTPase superfamily. Arf family. nucleotide binding GTPase activity 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 extracellular exosome uc003vmb.1 uc003vmb.2 uc003vmb.3 uc003vmb.4 
ENST00000000412.8 M6PR ENST00000000412.8 Homo sapiens mannose-6-phosphate receptor, cation dependent (M6PR), transcript variant 1, mRNA. (from RefSeq NM_002355) A8K528 D3DUV5 ENST00000000412.1 ENST00000000412.2 ENST00000000412.3 ENST00000000412.4 ENST00000000412.5 ENST00000000412.6 ENST00000000412.7 MPR46 MPRD MPRD_HUMAN NM_002355 P20645 uc001qvf.1 uc001qvf.2 uc001qvf.3 uc001qvf.4 uc001qvf.5 This gene encodes a member of the P-type lectin family. P-type lectins play a critical role in lysosome function through the specific transport of mannose-6-phosphate-containing acid hydrolases from the Golgi complex to lysosomes. The encoded protein functions as a homodimer and requires divalent cations for ligand binding. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome X. [provided by RefSeq, May 2011]. Transport of phosphorylated lysosomal enzymes from the Golgi complex and the cell surface to lysosomes. Lysosomal enzymes bearing phosphomannosyl residues bind specifically to mannose-6-phosphate receptors in the Golgi apparatus and the resulting receptor-ligand complex is transported to an acidic prelyosomal compartment where the low pH mediates the dissociation of the complex. Homodimer. Binds GGA1, GGA2 and GGA3. P20645; P21964-2: COMT; NbExp=3; IntAct=EBI-2907262, EBI-10200977; P20645; Q9UNI6: DUSP12; NbExp=3; IntAct=EBI-2907262, EBI-715161; P20645; Q9NZ52: GGA3; NbExp=2; IntAct=EBI-2907262, EBI-447404; P20645; Q96F15: GIMAP5; NbExp=3; IntAct=EBI-2907262, EBI-6166686; P20645; Q86UP2-3: KTN1; NbExp=3; IntAct=EBI-2907262, EBI-12007212; P20645; Q9NZG7: NINJ2; NbExp=3; IntAct=EBI-2907262, EBI-10317425; P20645; Q9NRQ5: SMCO4; NbExp=3; IntAct=EBI-2907262, EBI-8640191; Lysosome membrane; Single-pass type I membrane protein. The extracellular domain is homologous to the repeating units (of approximately 147 AA) of the cation-independent mannose 6-phosphate receptor. This receptor has optimal binding in the presence of divalent cations. transmembrane signaling receptor activity protein binding lysosome lysosomal membrane endosome late endosome Golgi apparatus trans-Golgi network plasma membrane integral component of plasma membrane protein targeting to lysosome receptor-mediated endocytosis lysosomal transport endosome to lysosome transport membrane integral component of membrane protein domain specific binding transport vesicle clathrin-coated vesicle membrane trans-Golgi network membrane secretion of lysosomal enzymes perinuclear region of cytoplasm membrane organization retromer complex binding uc001qvf.1 uc001qvf.2 uc001qvf.3 uc001qvf.4 uc001qvf.5 
ENST00000000442.11 ESRRA ENST00000000442.11 Homo sapiens estrogen related receptor alpha (ESRRA), transcript variant 1, mRNA. (from RefSeq NM_004451) ENST00000000442.1 ENST00000000442.10 ENST00000000442.2 ENST00000000442.3 ENST00000000442.4 ENST00000000442.5 ENST00000000442.6 ENST00000000442.7 ENST00000000442.8 ENST00000000442.9 ESRRA NM_004451 NR3B1 Q569H8 Q569H8_HUMAN Q6P3W9 hCG_2016877 uc001nzq.1 uc001nzq.2 uc001nzq.3 uc001nzq.4 The protein encoded by this gene is a nuclear receptor that is most closely related to the estrogen receptor. This protein acts as a site-specific transcription factor and interacts with members of the PGC-1 family of transcription cofactors to regulate the expression of most genes involved in cellular energy production as well as in the process of mitochondrial biogenesis. A processed pseudogene of ESRRA is located on chromosome 13q12.1. [provided by RefSeq, Jun 2019]. Nucleus Belongs to the nuclear hormone receptor family. NR3 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 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding fibrillar center DNA binding transcription factor activity, sequence-specific DNA binding steroid hormone receptor activity steroid binding nucleus regulation of transcription, DNA-templated zinc ion binding microtubule cytoskeleton regulation of ossification response to estradiol regulation of cell proliferation steroid hormone mediated signaling pathway sequence-specific DNA binding intercellular bridge regulation of osteoblast differentiation regulation of osteoclast differentiation positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter metal ion binding cartilage development positive regulation of cellular response to insulin stimulus uc001nzq.1 uc001nzq.2 uc001nzq.3 uc001nzq.4 
ENST00000001008.6 FKBP4 ENST00000001008.6 Homo sapiens FKBP prolyl isomerase 4 (FKBP4), mRNA. (from RefSeq NM_002014) D3DUQ1 ENST00000001008.1 ENST00000001008.2 ENST00000001008.3 ENST00000001008.4 ENST00000001008.5 FKBP4_HUMAN FKBP52 NM_002014 Q02790 Q9UCP1 Q9UCV7 uc001qkz.1 uc001qkz.2 uc001qkz.3 uc001qkz.4 uc001qkz.5 The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 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 :: SRR1803614.159743.1, SRR1803615.213037.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000001008.6/ ENSP00000001008.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Immunophilin protein with PPIase and co-chaperone activities. Component of steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). May play a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors between cytoplasm and nuclear compartments. The isomerase activity controls neuronal growth cones via regulation of TRPC1 channel opening. Acts also as a regulator of microtubule dynamics by inhibiting MAPT/TAU ability to promote microtubule assembly. May have a protective role against oxidative stress in mitochondria. 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 FK506. Homodimer (By similarity). Interacts with GLMN (PubMed:12604780). Associates with HSP90AA1 and HSP70 in steroid hormone receptor complexes. Also interacts with peroxisomal phytanoyl- CoA alpha-hydroxylase (PHYH). Interacts with NR3C1 and dynein. Interacts with HSF1 in the HSP90 complex. Associates with tubulin. Interacts with MAPT/TAU (By similarity). Interacts (via TPR domain) with S100A1, S100A2 and S100A6; the interaction is Ca(2+) dependent. Interaction with S100A1 and S100A2 (but not with S100A6) leads to inhibition of FKBP4-HSP90 interaction. Interacts with dynein; causes partially NR3C1 transport to the nucleus. Q02790; Q9UKV8: AGO2; NbExp=2; IntAct=EBI-1047444, EBI-528269; Q02790; P10275: AR; NbExp=2; IntAct=EBI-1047444, EBI-608057; Q02790; Q16543: CDC37; NbExp=3; IntAct=EBI-1047444, EBI-295634; Q02790; Q92990: GLMN; NbExp=4; IntAct=EBI-1047444, EBI-726150; Q02790; P07900: HSP90AA1; NbExp=8; IntAct=EBI-1047444, EBI-296047; Q02790; P08238: HSP90AB1; NbExp=6; IntAct=EBI-1047444, EBI-352572; Q02790; P04792: HSPB1; NbExp=2; IntAct=EBI-1047444, EBI-352682; Q02790; P10636-8: MAPT; NbExp=7; IntAct=EBI-1047444, EBI-366233; Q02790; P29034: S100A2; NbExp=3; IntAct=EBI-1047444, EBI-752230; Q02790; P06703: S100A6; NbExp=3; IntAct=EBI-1047444, EBI-352877; Q02790; P35467: S100a1; Xeno; NbExp=7; IntAct=EBI-1047444, EBI-6477109; Cytoplasm, cytosol Mitochondrion Nucleus Cytoplasm, cytoskeleton Cell projection, axon Note=Shuttles from mitochondria to nucleus; co-localizes in mitochondria with the glucocorticoid receptor (PubMed:21730050). Colocalized with MAPT/TAU in the distal part of the primary cortical neurons (By similarity). Widely expressed. The PPIase activity is mainly due to the first PPIase FKBP-type domain (1-138 AA). The C-terminal region (AA 375-458) is required to prevent tubulin polymerization. The chaperone activity resides in the C-terminal region, mainly between amino acids 264 and 400. The TPR repeats mediate mitochondrial localization. Phosphorylation by CK2 results in loss of HSP90 binding activity. Name=Protein Spotlight; Note=A mind astray - Issue 118 of June 2010; URL="https://web.expasy.org/spotlight/back_issues/118"; protein peptidyl-prolyl isomerization RNA binding peptidyl-prolyl cis-trans isomerase activity protein binding ATP binding GTP binding FK506 binding nucleus nucleoplasm cytoplasm mitochondrion cytosol cytoskeleton microtubule protein folding steroid hormone receptor complex assembly copper ion transport embryo implantation negative regulation of neuron projection development isomerase activity axon androgen receptor signaling pathway protein binding, bridging prostate gland development heat shock protein binding negative regulation of microtubule polymerization or depolymerization negative regulation of microtubule polymerization protein complex localization copper-dependent protein binding macromolecular complex glucocorticoid receptor binding cell projection neuron projection neuronal cell body axonal growth cone male sex differentiation tau protein binding perinuclear region of cytoplasm reproductive structure development phosphoprotein binding chaperone-mediated protein folding extracellular exosome regulation of cellular response to heat uc001qkz.1 uc001qkz.2 uc001qkz.3 uc001qkz.4 uc001qkz.5 
ENST00000001146.7 CYP26B1 ENST00000001146.7 Homo sapiens cytochrome P450 family 26 subfamily B member 1 (CYP26B1), transcript variant 1, mRNA. (from RefSeq NM_019885) B2R8M7 B7Z2K6 B7Z2P4 B7Z3B8 CP26B_HUMAN CYP26A2 E4W5W7 ENST00000001146.1 ENST00000001146.2 ENST00000001146.3 ENST00000001146.4 ENST00000001146.5 ENST00000001146.6 NM_019885 P450RAI2 Q32MC0 Q53TW1 Q9NP41 Q9NR63 uc002sih.1 uc002sih.2 uc002sih.3 uc002sih.4 This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]. A cytochrome P450 monooxygenase involved in the metabolism of retinoates (RAs), the active metabolites of vitamin A, and critical signaling molecules in animals (PubMed:10823918, PubMed:22020119). RAs exist as at least four different isomers: all-trans-RA (atRA), 9-cis- RA, 13-cis-RA, and 9,13-dicis-RA, where atRA is considered to be the biologically active isomer, although 9-cis-RA and 13-cis-RA also have activity (Probable). Catalyzes the hydroxylation of atRA primarily at C-4 and C-18, thereby contributing to the regulation of atRA homeostasis and signaling (PubMed:10823918). Hydroxylation of atRA limits its biological activity and initiates a degradative process leading to its eventual elimination (PubMed:10823918, PubMed:22020119). Involved in the convertion of atRA to all-trans-4-oxo-RA. Can oxidize all-trans-13,14-dihydroretinoate (DRA) to metabolites which could include all-trans-4-oxo-DRA, all-trans-4-hydroxy-DRA, all-trans-5,8- epoxy-DRA, and all-trans-18-hydroxy-DRA (By similarity). Shows preference for the following substrates: atRA > 9-cis-RA > 13-cis-RA (PubMed:10823918, PubMed:22020119). Plays a central role in germ cell development: acts by degrading RAs in the developing testis, preventing STRA8 expression, thereby leading to delay of meiosis. Required for the maintenance of the undifferentiated state of male germ cells during embryonic development in Sertoli cells, inducing arrest in G0 phase of the cell cycle and preventing meiotic entry. Plays a role in skeletal development, both at the level of patterning and in the ossification of bone and the establishment of some synovial joints (PubMed:22019272). Essential for postnatal survival (By similarity). Has also a significant activity in oxidation of tazarotenic acid and may therefore metabolize that xenobiotic in vivo. Reaction=all-trans-retinoate + O2 + reduced [NADPH--hemoprotein reductase] = all-trans-4-hydroxyretinoate + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:51984, Rhea:RHEA- COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:35291, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:134178; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:51985; Evidence=; Reaction=all-trans-retinoate + O2 + reduced [NADPH--hemoprotein reductase] = all-trans-18-hydroxyretinoate + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]; Xref=Rhea:RHEA:55856, Rhea:RHEA- COMP:11964, Rhea:RHEA-COMP:11965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:35291, ChEBI:CHEBI:57618, ChEBI:CHEBI:58210, ChEBI:CHEBI:139258; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55857; Evidence=; Name=heme; Xref=ChEBI:CHEBI:30413; Evidence=; Kinetic parameters: KM=1.01 uM for tazarotenic acid (measured in vitro by the production of tazarotenic acid-sulfoxide) ; KM=0.56 uM for tazarotenic acid (measured in vitro by the production of hydroxytazarotenic acid production) ; Q9NR63; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-25928065, EBI-1055254; Endoplasmic reticulum membrane ; Peripheral membrane protein Microsome membrane ; Peripheral membrane protein Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9NR63-1; Sequence=Displayed; Name=2; IsoId=Q9NR63-2; Sequence=VSP_042968; Name=3; IsoId=Q9NR63-3; Sequence=VSP_042967; Highly expressed in brain, particularly in the cerebellum and pons. By retinoic acid. Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) [MIM:614416]: A disease characterized by craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the cytochrome P450 family. Sequence=BAH12154.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cyp26b1/"; C-22 sterol desaturase activity cell fate determination establishment of T cell polarity kidney development retinoic acid binding monooxygenase activity iron ion binding cytoplasm endoplasmic reticulum endoplasmic reticulum membrane ergosterol biosynthetic process vitamin metabolic process xenobiotic metabolic process inflammatory response male meiosis spermatogenesis retinoic acid 4-hydroxylase activity proximal/distal pattern formation positive regulation of gene expression membrane sterol metabolic process 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 heme binding embryonic limb morphogenesis organelle membrane response to retinoic acid response to vitamin A retinoic acid catabolic process intracellular membrane-bounded organelle tongue morphogenesis regulation of T cell differentiation metal ion binding retinoic acid receptor signaling pathway regulation of retinoic acid receptor signaling pathway negative regulation of retinoic acid receptor signaling pathway oxidation-reduction process bone morphogenesis establishment of skin barrier cornification cellular response to retinoic acid positive regulation of tongue muscle cell differentiation uc002sih.1 uc002sih.2 uc002sih.3 uc002sih.4 
ENST00000002125.9 NDUFAF7 ENST00000002125.9 Homo sapiens NADH:ubiquinone oxidoreductase complex assembly factor 7 (NDUFAF7), transcript variant 14, non-coding RNA. (from RefSeq NR_146409) C2orf56 ENST00000002125.1 ENST00000002125.2 ENST00000002125.3 ENST00000002125.4 ENST00000002125.5 ENST00000002125.6 ENST00000002125.7 ENST00000002125.8 NDUF7_HUMAN NDUFAF7 NR_146409 PRO1853 Q7L592 Q7Z399 Q9P1G3 uc002rqa.1 uc002rqa.2 uc002rqa.3 uc002rqa.4 uc002rqa.5 uc002rqa.6 uc002rqa.7 This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including metabolite transport and ATP synthesis. The encoded protein is a methyltransferase which methylates Arg85 of a subunit of Complex I in the early stages of its assembly. A pseudogene related to this gene is located on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.138693.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:20406883, PubMed:24089531, PubMed:24838397). Acts by mediating symmetric dimethylation of 'Arg-118' of NDUFS2 after it assembles into the complex I, stabilizing the early intermediate complex (PubMed:24089531). Reaction=L-arginyl-[protein] + 2 S-adenosyl-L-methionine = 2 H(+) + N(omega),N(omega)'-dimethyl-L-arginyl-[protein] + 2 S-adenosyl-L- homocysteine; Xref=Rhea:RHEA:48108, Rhea:RHEA-COMP:10532, Rhea:RHEA- COMP:11992, ChEBI:CHEBI:15378, ChEBI:CHEBI:29965, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:88221; EC=2.1.1.320; Evidence=; Interacts with NDUFS2 (PubMed:20406883, PubMed:24089531). Q7L592; Q5S007: LRRK2; NbExp=2; IntAct=EBI-2555519, EBI-5323863; Mitochondrion Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7L592-1; Sequence=Displayed; Name=2; IsoId=Q7L592-2; Sequence=VSP_030606, VSP_030607; Note=Defects in NDUFAF7 may be a cause of susceptibility to pathologic myopia, a genetically heterogeneous disorder characterized by extreme, familial, early-onset vision loss and described as myopia accompanied by severe deformation of the eye besides excessive elongation of the eye. Belongs to the NDUFAF7 family. Stoichiometry of the protein is unclear. According to a report, it forms a homodimer (PubMed:20406883). According to another publication, it is mainly monomeric (PubMed:24838397). Sequence=AAF71091.1; Type=Erroneous initiation; Evidence=; Sequence=AAH12374.2; Type=Erroneous initiation; Evidence=; protein binding extracellular space mitochondrion mitochondrial matrix methyltransferase activity transferase activity enzyme binding peptidyl-arginine methylation, to symmetrical-dimethyl arginine methylation mitochondrial respiratory chain complex I assembly protein-arginine omega-N symmetric methyltransferase activity uc002rqa.1 uc002rqa.2 uc002rqa.3 uc002rqa.4 uc002rqa.5 uc002rqa.6 uc002rqa.7 
ENST00000002165.11 FUCA2 ENST00000002165.11 Homo sapiens alpha-L-fucosidase 2 (FUCA2), mRNA. (from RefSeq NM_032020) E9PEB6 ENST00000002165.1 ENST00000002165.10 ENST00000002165.2 ENST00000002165.3 ENST00000002165.4 ENST00000002165.5 ENST00000002165.6 ENST00000002165.7 ENST00000002165.8 ENST00000002165.9 FUCO2_HUMAN NM_032020 PSEC0151 Q7Z6V1 Q7Z6Y2 Q8NBK4 Q9BTY2 UNQ227/PRO260 uc003qjm.1 uc003qjm.2 uc003qjm.3 uc003qjm.4 uc003qjm.5 This gene encodes a plasma alpha-L-fucosidase, which represents 10-20% of the total cellular fucosidase activity. The protein is a member of the glycosyl hydrolase 29 family, and catalyzes the hydrolysis of the alpha-1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. This enzyme is essential for Helicobacter pylori adhesion to human gastric cancer cells. [provided by RefSeq, Aug 2010]. 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 :: SRR1803617.230531.1, SRR1803615.84845.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2155770 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000002165.11/ ENSP00000002165.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Alpha-L-fucosidase is responsible for hydrolyzing the alpha- 1,6-linked fucose joined to the reducing-end N-acetylglucosamine of the carbohydrate moieties of glycoproteins. Reaction=an alpha-L-fucoside + H2O = an alcohol + L-fucose; Xref=Rhea:RHEA:12288, ChEBI:CHEBI:2181, ChEBI:CHEBI:15377, ChEBI:CHEBI:28349, ChEBI:CHEBI:30879; EC=3.2.1.51; Evidence=; Homotetramer. Q9BTY2; Q96NT3-2: GUCD1; NbExp=3; IntAct=EBI-9050116, EBI-11978177; Q9BTY2; P49639: HOXA1; NbExp=3; IntAct=EBI-9050116, EBI-740785; Q9BTY2; Q9BQ66: KRTAP4-12; NbExp=3; IntAct=EBI-9050116, EBI-739863; Q9BTY2; Q701N4: KRTAP5-2; NbExp=3; IntAct=EBI-9050116, EBI-11958178; Q9BTY2; Q6L8H2: KRTAP5-3; NbExp=3; IntAct=EBI-9050116, EBI-11974251; Q9BTY2; Q5T7P2: LCE1A; NbExp=3; IntAct=EBI-9050116, EBI-11962058; Q9BTY2; Q5T7P3: LCE1B; NbExp=3; IntAct=EBI-9050116, EBI-10245913; Q9BTY2; Q5T753: LCE1E; NbExp=3; IntAct=EBI-9050116, EBI-11955335; Q9BTY2; Q5TA78: LCE4A; NbExp=3; IntAct=EBI-9050116, EBI-10246358; Q9BTY2; P50222: MEOX2; NbExp=4; IntAct=EBI-9050116, EBI-748397; Q9BTY2; Q7Z417: NUFIP2; NbExp=3; IntAct=EBI-9050116, EBI-1210753; Q9BTY2; Q13526: PIN1; NbExp=3; IntAct=EBI-9050116, EBI-714158; Q9BTY2; O14787-2: TNPO2; NbExp=3; IntAct=EBI-9050116, EBI-12076664; Q9BTY2; Q2TAL6: VWC2; NbExp=3; IntAct=EBI-9050116, EBI-11957238; Q9BTY2; O96014: WNT11; NbExp=3; IntAct=EBI-9050116, EBI-8058160; Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BTY2-1; Sequence=Displayed; Name=2; IsoId=Q9BTY2-2; Sequence=VSP_057004, VSP_057005; Belongs to the glycosyl hydrolase 29 family. alpha-L-fucosidase activity protein binding extracellular region extracellular space lysosome endoplasmic reticulum lumen carbohydrate metabolic process fucose metabolic process metabolic process response to bacterium glycoside catabolic process hydrolase activity hydrolase activity, acting on glycosyl bonds azurophil granule lumen neutrophil degranulation post-translational protein modification cellular protein metabolic process extracellular exosome regulation of entry of bacterium into host cell uc003qjm.1 uc003qjm.2 uc003qjm.3 uc003qjm.4 uc003qjm.5 
ENST00000002501.11 DBNDD1 ENST00000002501.11 Homo sapiens dysbindin domain containing 1 (DBNDD1), transcript variant 1, mRNA. (from RefSeq NM_001042610) B4DQS3 DBND1_HUMAN ENST00000002501.1 ENST00000002501.10 ENST00000002501.2 ENST00000002501.3 ENST00000002501.4 ENST00000002501.5 ENST00000002501.6 ENST00000002501.7 ENST00000002501.8 ENST00000002501.9 NM_001042610 Q69YT2 Q9BW25 Q9H9R9 uc002fqf.1 uc002fqf.2 uc002fqf.3 uc002fqf.4 Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H9R9-1; Sequence=Displayed; Name=2; IsoId=Q9H9R9-2; Sequence=VSP_026214; Name=3; IsoId=Q9H9R9-3; Sequence=VSP_037541; Belongs to the dysbindin family. cytoplasm uc002fqf.1 uc002fqf.2 uc002fqf.3 uc002fqf.4 
ENST00000002596.6 HS3ST1 ENST00000002596.6 Homo sapiens heparan sulfate-glucosamine 3-sulfotransferase 1 (HS3ST1), mRNA. (from RefSeq NM_005114) 3OST 3OST1 B3KUA6 ENST00000002596.1 ENST00000002596.2 ENST00000002596.3 ENST00000002596.4 ENST00000002596.5 HS3S1_HUMAN NM_005114 O14792 Q6PEY8 uc003gmq.1 uc003gmq.2 uc003gmq.3 uc003gmq.4 uc003gmq.5 Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. The enzyme encoded by this gene is a member of the heparan sulfate biosynthetic enzyme family. It possesses both heparan sulfate glucosaminyl 3-O-sulfotransferase activity, anticoagulant heparan sulfate conversion activity, and is a rate limiting enzyme for synthesis of anticoagulant heparan. This enzyme is an intraluminal Golgi resident protein. [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 :: SRR1803615.89832.1, SRR1803615.254596.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000002596.6/ ENSP00000002596.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to position 3 of glucosamine residues in heparan (PubMed:9346953, PubMed:8900198, PubMed:9988768). Catalyzes the rate limiting step in the biosynthesis of heparan sulfate (HSact) (PubMed:8900198, PubMed:9988768). This modification is a crucial step in the biosynthesis of anticoagulant heparan sulfate as it completes the structure of the antithrombin pentasaccharide binding site (PubMed:8900198, PubMed:9988768). Reaction=3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = 3-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n) + adenosine 3',5'-bisphosphate + H(+); Xref=Rhea:RHEA:15461, Rhea:RHEA- COMP:9830, Rhea:RHEA-COMP:9831, ChEBI:CHEBI:15378, ChEBI:CHEBI:58339, ChEBI:CHEBI:58343, ChEBI:CHEBI:58388, ChEBI:CHEBI:70975; EC=2.8.2.23; Evidence=; Golgi apparatus lumen Highly expressed in the brain and kidney and weakly expressed in the heart, lung and placenta. Belongs to the sulfotransferase 1 family. Golgi apparatus Golgi lumen glycosaminoglycan biosynthetic process sulfotransferase activity [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity transferase activity uc003gmq.1 uc003gmq.2 uc003gmq.3 uc003gmq.4 uc003gmq.5 
ENST00000002829.8 SEMA3F ENST00000002829.8 Homo sapiens semaphorin 3F (SEMA3F), transcript variant 1, mRNA. (from RefSeq NM_004186) C9JQ85 ENST00000002829.1 ENST00000002829.2 ENST00000002829.3 ENST00000002829.4 ENST00000002829.5 ENST00000002829.6 ENST00000002829.7 NM_004186 Q13274 Q13275 Q13372 Q15704 Q6GTR4 SEM3F_HUMAN uc003cyj.1 uc003cyj.2 uc003cyj.3 uc003cyj.4 uc003cyj.5 This gene encodes a member of the semaphorin III family of secreted signaling proteins that are involved in axon guidance during neuronal development. The encoded protein contains an N-terminal Sema domain, an immunoglobulin loop and a C-terminal basic domain. This gene is expressed by the endothelial cells where it was found to act in an autocrine fashion to induce apoptosis, inhibit cell proliferation and survival, and function as an anti-tumorigenic agent. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]. May play a role in cell motility and cell adhesion. Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q13275-1; Sequence=Displayed; Name=2; IsoId=Q13275-2; Sequence=VSP_053417; Expressed abundantly but differentially in a variety of neural and nonneural tissues. There is high expression in mammary gland, kidney, fetal brain, and lung and lower expression in heart and liver. Detected as early as embryonic day 10. Belongs to the semaphorin family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/42254/SEMA3F"; neural crest cell migration extracellular region extracellular space integral component of plasma membrane axon guidance facial nerve structural organization trigeminal nerve structural organization nerve development branchiomotor neuron axon guidance semaphorin receptor binding positive regulation of cell migration ventral trunk neural crest cell migration chemorepellent activity negative regulation of axon extension involved in axon guidance axon extension involved in axon guidance negative chemotaxis sympathetic ganglion development semaphorin-plexin signaling pathway sympathetic neuron projection extension sympathetic neuron projection guidance glutamatergic synapse neural crest cell migration involved in autonomic nervous system development semaphorin-plexin signaling pathway involved in neuron projection guidance semaphorin-plexin signaling pathway involved in axon guidance uc003cyj.1 uc003cyj.2 uc003cyj.3 uc003cyj.4 uc003cyj.5 
ENST00000003084.11 CFTR ENST00000003084.11 Homo sapiens CF transmembrane conductance regulator (CFTR), mRNA. (from RefSeq NM_000492) ABCC7 CFTR_HUMAN ENST00000003084.1 ENST00000003084.10 ENST00000003084.2 ENST00000003084.3 ENST00000003084.4 ENST00000003084.5 ENST00000003084.6 ENST00000003084.7 ENST00000003084.8 ENST00000003084.9 NM_000492 P13569 Q20BG8 Q20BH2 Q2I0A1 Q2I102 uc003vjd.1 uc003vjd.2 uc003vjd.3 uc003vjd.4 uc003vjd.5 This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]. 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 :: M28668.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000003084.11/ ENSP00000003084.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3)(-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731, PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810). Reaction=ATP + H2O + closed Cl(-) channel = ADP + phosphate + open Cl(-) channel.; EC=5.6.1.6; Evidence= Monomer; does not require oligomerization for channel activity (PubMed:11524016). May form oligomers in the membrane (PubMed:11524016). Interacts with SLC26A3, SLC26A6 and SHANK2 (By similarity). Interacts with NHERF1 and MYO6 (PubMed:12403779, PubMed:15247260, PubMed:11304524). Interacts (via C-terminus) with GOPC (via PDZ domain); this promotes CFTR internalization and thereby decreases channel activity (PubMed:11707463, PubMed:16331976). Interacts with SLC4A7 through NHERF1 (PubMed:12403779). Found in a complex with MYO5B and RAB11A (PubMed:17462998). Interacts with ANO1 (PubMed:22178883). Interacts with SLC26A8 (PubMed:22121115). Interacts with AHCYL1; the interaction increases CFTR activity (By similarity). Interacts with CSE1L (PubMed:20933420). The core-glycosylated form interacts with GORASP2 (via PDZ GRASP-type 1 domain) in respone to ER stress (PubMed:21884936). Interacts with MARCHF2; the interaction leads to CFTR ubiqtuitination and degradation (PubMed:23818989). P13569; Q6UWZ7: ABRAXAS1; NbExp=3; IntAct=EBI-349854, EBI-1263451; P13569; Q96QU6: ACCS; NbExp=3; IntAct=EBI-349854, EBI-743387; P13569; O14734: ACOT8; NbExp=3; IntAct=EBI-349854, EBI-1237371; P13569; P60709: ACTB; NbExp=6; IntAct=EBI-349854, EBI-353944; P13569; O43865: AHCYL1; NbExp=7; IntAct=EBI-349854, EBI-2371423; P13569; O95154: AKR7A3; NbExp=4; IntAct=EBI-349854, EBI-748869; P13569; P09972: ALDOC; NbExp=8; IntAct=EBI-349854, EBI-2952751; P13569; Q9BT30: ALKBH7; NbExp=4; IntAct=EBI-349854, EBI-2878075; P13569; Q9NP61: ARFGAP3; NbExp=8; IntAct=EBI-349854, EBI-2875816; P13569; P16615-1: ATP2A2; NbExp=6; IntAct=EBI-349854, EBI-11613988; P13569; P51572: BCAP31; NbExp=9; IntAct=EBI-349854, EBI-77683; P13569; A1A5D9: BICDL2; NbExp=3; IntAct=EBI-349854, EBI-10171799; P13569; Q9H7E9: C8orf33; NbExp=5; IntAct=EBI-349854, EBI-715389; P13569; P62158: CALM3; NbExp=18; IntAct=EBI-349854, EBI-397435; P13569; O43852-1: CALU; NbExp=2; IntAct=EBI-349854, EBI-5280679; P13569; P27824: CANX; NbExp=26; IntAct=EBI-349854, EBI-355947; P13569; Q01518: CAP1; NbExp=14; IntAct=EBI-349854, EBI-2808398; P13569; P07384: CAPN1; NbExp=7; IntAct=EBI-349854, EBI-1542113; P13569; P47756: CAPZB; NbExp=23; IntAct=EBI-349854, EBI-353595; P13569; Q9Y3X0: CCDC9; NbExp=4; IntAct=EBI-349854, EBI-2557532; P13569; Q53EZ4: CEP55; NbExp=5; IntAct=EBI-349854, EBI-747776; P13569; Q8NCH0: CHST14; NbExp=3; IntAct=EBI-349854, EBI-21717278; P13569; P51790-2: CLCN3; NbExp=2; IntAct=EBI-349854, EBI-25495635; P13569; O00299: CLIC1; NbExp=15; IntAct=EBI-349854, EBI-347404; P13569; Q13057: COASY; NbExp=7; IntAct=EBI-349854, EBI-745967; P13569; Q9Y678: COPG1; NbExp=21; IntAct=EBI-349854, EBI-1049127; P13569; P29762: CRABP1; NbExp=4; IntAct=EBI-349854, EBI-725950; P13569; Q96BA8: CREB3L1; NbExp=3; IntAct=EBI-349854, EBI-6942903; P13569; Q14406: CSHL1; NbExp=3; IntAct=EBI-349854, EBI-21022791; P13569; Q13616: CUL1; NbExp=7; IntAct=EBI-349854, EBI-359390; P13569; Q8N8Q1: CYB561D1; NbExp=3; IntAct=EBI-349854, EBI-12873482; P13569; Q6PI48: DARS2; NbExp=5; IntAct=EBI-349854, EBI-3917045; P13569; Q96HY6: DDRGK1; NbExp=4; IntAct=EBI-349854, EBI-1054024; P13569; Q9NUU7: DDX19A; NbExp=9; IntAct=EBI-349854, EBI-740301; P13569; Q9UHI6: DDX20; NbExp=5; IntAct=EBI-349854, EBI-347658; P13569; Q9BUN8: DERL1; NbExp=8; IntAct=EBI-349854, EBI-398977; P13569; Q7L2E3: DHX30; NbExp=5; IntAct=EBI-349854, EBI-1211456; P13569; Q8TBM8: DNAJB14; NbExp=3; IntAct=EBI-349854, EBI-2689808; P13569; Q96KC8: DNAJC1; NbExp=7; IntAct=EBI-349854, EBI-296550; P13569; Q9Y295: DRG1; NbExp=9; IntAct=EBI-349854, EBI-719554; P13569; P60981: DSTN; NbExp=16; IntAct=EBI-349854, EBI-745191; P13569; O60869: EDF1; NbExp=3; IntAct=EBI-349854, EBI-781301; P13569; P07099: EPHX1; NbExp=5; IntAct=EBI-349854, EBI-6138796; P13569; Q6P6B1: ERICH5; NbExp=4; IntAct=EBI-349854, EBI-11343491; P13569; P13804: ETFA; NbExp=7; IntAct=EBI-349854, EBI-1052886; P13569; Q0VG06: FAAP100; NbExp=4; IntAct=EBI-349854, EBI-2557990; P13569; Q9NYY8: FASTKD2; NbExp=5; IntAct=EBI-349854, EBI-1055752; P13569; Q14314: FGL2; NbExp=6; IntAct=EBI-349854, EBI-21370828; P13569; Q14192: FHL2; NbExp=10; IntAct=EBI-349854, EBI-701903; P13569; O75344: FKBP6; NbExp=4; IntAct=EBI-349854, EBI-744771; P13569; Q9UJY5: GGA1; NbExp=6; IntAct=EBI-349854, EBI-447141; P13569; P62879: GNB2; NbExp=12; IntAct=EBI-349854, EBI-356942; P13569; Q9HD26: GOPC; NbExp=10; IntAct=EBI-349854, EBI-349832; P13569; Q9H8Y8: GORASP2; NbExp=6; IntAct=EBI-349854, EBI-739467; P13569; P07203: GPX1; NbExp=3; IntAct=EBI-349854, EBI-7209024; P13569; P0CG30: GSTT2B; NbExp=4; IntAct=EBI-349854, EBI-13572836; P13569; Q9P035: HACD3; NbExp=15; IntAct=EBI-349854, EBI-359013; P13569; Q9BX68: HINT2; NbExp=3; IntAct=EBI-349854, EBI-8523143; P13569; P19367: HK1; NbExp=5; IntAct=EBI-349854, EBI-713162; P13569; O75330: HMMR; NbExp=7; IntAct=EBI-349854, EBI-2556203; P13569; P10809: HSPD1; NbExp=24; IntAct=EBI-349854, EBI-352528; P13569; O15554: KCNN4; NbExp=5; IntAct=EBI-349854, EBI-2924473; P13569; O94889: KLHL18; NbExp=3; IntAct=EBI-349854, EBI-2510096; P13569; O15131: KPNA5; NbExp=4; IntAct=EBI-349854, EBI-540602; P13569; P05787: KRT8; NbExp=11; IntAct=EBI-349854, EBI-297852; P13569; Q08380: LGALS3BP; NbExp=18; IntAct=EBI-349854, EBI-354956; P13569; Q9HBW0: LPAR2; NbExp=3; IntAct=EBI-349854, EBI-765995; P13569; P33241: LSP1; NbExp=4; IntAct=EBI-349854, EBI-9060697; P13569; Q9HCC0: MCCC2; NbExp=5; IntAct=EBI-349854, EBI-2211296; P13569; P08582: MELTF; NbExp=7; IntAct=EBI-349854, EBI-7172128; P13569; Q92552: MRPS27; NbExp=5; IntAct=EBI-349854, EBI-2211879; P13569; Q96S97: MYADM; NbExp=3; IntAct=EBI-349854, EBI-13301517; P13569; P41227: NAA10; NbExp=5; IntAct=EBI-349854, EBI-747693; P13569; O14745: NHERF1; NbExp=26; IntAct=EBI-349854, EBI-349787; P13569; Q15599: NHERF2; NbExp=28; IntAct=EBI-349854, EBI-1149760; P13569; Q9NZM5: NOP53; NbExp=4; IntAct=EBI-349854, EBI-720156; P13569; Q9BVG4: PBDC1; NbExp=3; IntAct=EBI-349854, EBI-722092; P13569; P08559: PDHA1; NbExp=5; IntAct=EBI-349854, EBI-715747; P13569; P30101: PDIA3; NbExp=12; IntAct=EBI-349854, EBI-979862; P13569; Q5T2W1: PDZK1; NbExp=3; IntAct=EBI-349854, EBI-349819; P13569; O60831: PRAF2; NbExp=4; IntAct=EBI-349854, EBI-2506064; P13569; P55036: PSMD4; NbExp=13; IntAct=EBI-349854, EBI-359318; P13569; O75127: PTCD1; NbExp=3; IntAct=EBI-349854, EBI-2560233; P13569; Q96PK6: RBM14; NbExp=13; IntAct=EBI-349854, EBI-954272; P13569; Q99942: RNF5; NbExp=8; IntAct=EBI-349854, EBI-348482; P13569; Q7Z5V6: SAXO4; NbExp=3; IntAct=EBI-349854, EBI-4311771; P13569; O15126: SCAMP1; NbExp=7; IntAct=EBI-349854, EBI-954338; P13569; P31040: SDHA; NbExp=15; IntAct=EBI-349854, EBI-1057265; P13569; Q9P0V3: SH3BP4; NbExp=4; IntAct=EBI-349854, EBI-1049513; P13569; P29353: SHC1; NbExp=6; IntAct=EBI-349854, EBI-78835; P13569; Q96RN1: SLC26A8; NbExp=2; IntAct=EBI-349854, EBI-1792052; P13569; O00400: SLC33A1; NbExp=6; IntAct=EBI-349854, EBI-11135403; P13569; P63162: SNRPN; NbExp=6; IntAct=EBI-349854, EBI-712493; P13569; Q9UHB9: SRP68; NbExp=7; IntAct=EBI-349854, EBI-1048560; P13569; Q9NSC7: ST6GALNAC1; NbExp=5; IntAct=EBI-349854, EBI-2854712; P13569; O95793: STAU1; NbExp=13; IntAct=EBI-349854, EBI-358174; P13569; Q9P289: STK26; NbExp=6; IntAct=EBI-349854, EBI-618239; P13569; Q92734: TFG; NbExp=7; IntAct=EBI-349854, EBI-357061; P13569; Q96Q45: TMEM237; NbExp=4; IntAct=EBI-349854, EBI-2602465; P13569; Q8WWA1: TMEM40; NbExp=9; IntAct=EBI-349854, EBI-39962964; P13569; O14545: TRAFD1; NbExp=9; IntAct=EBI-349854, EBI-1396921; P13569; P19474: TRIM21; NbExp=24; IntAct=EBI-349854, EBI-81290; P13569; Q13049: TRIM32; NbExp=5; IntAct=EBI-349854, EBI-742790; P13569; Q9C035: TRIM5; NbExp=3; IntAct=EBI-349854, EBI-924214; P13569; Q13432: UNC119; NbExp=4; IntAct=EBI-349854, EBI-711260; P13569; Q14694: USP10; NbExp=7; IntAct=EBI-349854, EBI-2510389; P13569; O94966: USP19; NbExp=6; IntAct=EBI-349854, EBI-2511895; P13569; Q9BXU7: USP26; NbExp=4; IntAct=EBI-349854, EBI-1641713; P13569; Q9P0L0: VAPA; NbExp=13; IntAct=EBI-349854, EBI-1059156; P13569; O95292: VAPB; NbExp=12; IntAct=EBI-349854, EBI-1188298; P13569; P45880: VDAC2; NbExp=10; IntAct=EBI-349854, EBI-354022; P13569; Q9UN37: VPS4A; NbExp=9; IntAct=EBI-349854, EBI-1171942; P13569; Q9UEU0: VTI1B; NbExp=10; IntAct=EBI-349854, EBI-723716; P13569; O00308: WWP2; NbExp=3; IntAct=EBI-349854, EBI-743923; P13569; Q8WTP9: XAGE3; NbExp=4; IntAct=EBI-349854, EBI-6448284; P13569; Q9BYJ9: YTHDF1; NbExp=5; IntAct=EBI-349854, EBI-1051237; P13569; P17026: ZNF22; NbExp=2; IntAct=EBI-349854, EBI-20803387; P13569; P19120: HSPA8; Xeno; NbExp=2; IntAct=EBI-349854, EBI-907802; P13569; Q9QX74: Shank2; Xeno; NbExp=3; IntAct=EBI-349854, EBI-397902; Apical cell membrane ulti-pass membrane protein Early endosome membrane ; Multi-pass membrane protein Cell membrane ulti-pass membrane protein Recycling endosome membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein Nucleus Note=The channel is internalized from the cell surface into an endosomal recycling compartment, from where it is recycled to the cell membrane (PubMed:17462998, PubMed:19398555, PubMed:20008117). In the oviduct and bronchus, detected on the apical side of epithelial cells, but not associated with cilia (PubMed:22207244). In Sertoli cells, a processed product is detected in the nucleus (By similarity). ER stress induces GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane (PubMed:21884936). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P13569-1; Sequence=Displayed; Name=2; IsoId=P13569-2; Sequence=VSP_022123; Name=3; IsoId=P13569-3; Sequence=VSP_022124, VSP_022125; Expressed in the respiratory airway, including bronchial epithelium, and in the female reproductive tract, including oviduct (at protein level) (PubMed:22207244, PubMed:15716351). Detected in pancreatic intercalated ducts in the exocrine tissue, on epithelial cells in intralobular striated ducts in sublingual salivary glands, on apical membranes of crypt cells throughout the small and large intestine, and on the reabsorptive duct in eccrine sweat glands (PubMed:1284548, PubMed:28130590). Detected on the equatorial segment of the sperm head (at protein level) (PubMed:19923167). Detected in nasal and bronchial superficial epithelium (PubMed:15716351). Expressed by the central cells on the sebaceous glands, dermal adipocytes and, at lower levels, by epithelial cells (PubMed:28130590). Binds and hydrolyzes ATP via the two cytoplasmic ABC transporter nucleotide-binding domains (PubMed:15284228). The two ATP- binding domains interact with each other, forming a head-to-tail dimer (PubMed:17036051). Normal ATPase activity requires interaction between the two domains (PubMed:15284228). The first ABC transporter nucleotide-binding domain has no ATPase activity by itself (By similarity). The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, NHERF1/EBP50 complex. The R region is intrinsically disordered (PubMed:10792060, PubMed:17660831). It mediates channel activation when it is phosphorylated, but not in the absence of phosphorylation (PubMed:10792060). N-glycosylated. Phosphorylated; cAMP treatment promotes phosphorylation and activates the channel (PubMed:12588899, PubMed:17036051, PubMed:8910473). Dephosphorylation decreases the ATPase activity (in vitro) (PubMed:8910473). Phosphorylation at PKA sites activates the channel (PubMed:10792060, PubMed:12519745, PubMed:12588899, PubMed:25330774). Phosphorylation at PKC sites enhances the response to phosphorylation by PKA (PubMed:12588899). Phosphorylated by AMPK; this inhibits channel activity (PubMed:12519745). Ubiquitinated, leading to its degradation in the lysosome (PubMed:19398555, PubMed:23818989). Deubiquitination by USP10 in early endosomes enhances its endocytic recycling to the cell membrane (PubMed:19398555). Ubiquitinated by RNF185 during ER stress (PubMed:24019521). Ubiquitinated by MARCHF2 (PubMed:23818989). Cystic fibrosis (CF) [MIM:219700]: A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. te=The disease is caused by variants affecting the gene represented in this entry. There is some evidence that the functional defect caused by the most common variant Phe-508 DEL can be corrected by the binding to the snake phospholipase A2 crotoxin basic subunit CB. This toxin both disrupts the Phe-508 DEL-cytokeratin 8 complex, allowing for the escape from degradation, and increases the chloride channel current (PubMed:27241308). Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]: An autosomal recessive disease characterized by vas deferens aplasia resulting in azoospermia and male infertility. CBAVD may occur in isolation or as a manifestation of cystic fibrosis. te=The disease is caused by variants affecting the gene represented in this entry. [Isoform 2]: Exon 9 splicing depends upon 2 polymorphic tracts within intron 8, a T(n) tract and TG(n) tract, where the number of T and/or TG repeats affect the extent of correct splicing of exon 9. Low numbers of T residues and high numbers of TG repeats give rise to less efficient splicing. Transcripts that lack exon 9 sequences fail to mature. Causes congenital bilateral absence of the vas deferens (CBAVD). [Isoform 3]: Alternative acceptor site favored by mutation in an exonic splicing enhancer (ESE). Causes cystic fibrosis (CF). Belongs to the ABC transporter superfamily. ABCC family. CFTR transporter (TC 3.A.1.202) subfamily. Name=Wikipedia; Note=CFTR entry; URL="https://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator"; Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcm2.hegelab.org/search"; nucleotide binding chloride channel activity channel-conductance-controlling ATPase activity protein binding ATP binding nucleus cytoplasm lysosomal membrane endosome early endosome endoplasmic reticulum endoplasmic reticulum membrane cytosol plasma membrane integral component of plasma membrane cholesterol biosynthetic process ion transport chloride transport vesicle docking involved in exocytosis cell surface endosome membrane bicarbonate transmembrane transporter activity chloride transmembrane transporter activity bicarbonate transport membrane integral component of membrane apical plasma membrane protein deubiquitination isomerase activity ATPase activity chloride channel regulator activity chloride channel inhibitor activity enzyme binding PDZ domain binding cholesterol transport Golgi-associated vesicle membrane clathrin-coated vesicle membrane early endosome membrane macromolecular complex chloride channel complex response to endoplasmic reticulum stress transepithelial water transport positive regulation of insulin secretion involved in cellular response to glucose stimulus ATPase activity, coupled to transmembrane movement of substances positive regulation of exocytosis sperm capacitation multicellular organismal water homeostasis chaperone binding intracellular pH elevation recycling endosome recycling endosome membrane transmembrane transport membrane hyperpolarization membrane organization cellular response to cAMP positive regulation of cyclic nucleotide-gated ion channel activity chloride transmembrane transport positive regulation of voltage-gated chloride channel activity cellular response to forskolin uc003vjd.1 uc003vjd.2 uc003vjd.3 uc003vjd.4 uc003vjd.5 
ENST00000003100.13 CYP51A1 ENST00000003100.13 Homo sapiens cytochrome P450 family 51 subfamily A member 1 (CYP51A1), transcript variant 1, mRNA. (from RefSeq NM_000786) A0A0C4DFL7 A4D1F8 B2RAI4 B4DJ55 CP51A_HUMAN CYP51 CYP51A1 ENST00000003100.1 ENST00000003100.10 ENST00000003100.11 ENST00000003100.12 ENST00000003100.2 ENST00000003100.3 ENST00000003100.4 ENST00000003100.5 ENST00000003100.6 ENST00000003100.7 ENST00000003100.8 ENST00000003100.9 NM_000786 O00770 O00772 Q16784 Q16850 Q8N1A8 Q99868 uc003ulm.1 uc003ulm.2 uc003ulm.3 uc003ulm.4 uc003ulm.5 uc003ulm.6 This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]. 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:8619637, PubMed:9559662, PubMed:20149798). 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:8619637, PubMed:9559662, PubMed:20149798). Can also demethylate substrates not intrinsic to mammals, such as eburicol (24-methylene-24,25- dihydrolanosterol), but at a lower rate than DHL (PubMed:9559662). 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. Kinetic parameters: KM=29 uM for lanosterol ; KM=27 uM for 24,25-dihydrolanosterol ; KM=32 uM for eburicol ; KM=32 uM for obtusifoliol ; Vmax=0.18 nmol/min/nmol enzyme towards lanosterol ; Vmax=0.5 nmol/min/nmol enzyme towards 24,25-dihydrolanosterol ; Vmax=0.22 nmol/min/nmol enzyme towards eburicol ; Vmax=0.44 nmol/min/nmol enzyme towards obtusifoliol ; Steroid biosynthesis; zymosterol biosynthesis; zymosterol from lanosterol: step 1/6. Endoplasmic reticulum membrane ; Single-pass membrane protein Microsome membrane ; Single-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q16850-1; Sequence=Displayed; Name=2; IsoId=Q16850-2; Sequence=VSP_037413; Ubiquitously expressed with highest levels in testis, ovary, adrenal, prostate, liver, kidney and lung. Belongs to the cytochrome P450 family. It is uncertain whether Met-1 or Met-7 is the initiator. Sequence=AAC50951.1; 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 regulation of cholesterol biosynthetic process metal ion binding negative regulation of protein secretion oxidation-reduction process demethylation negative regulation of beta-amyloid clearance uc003ulm.1 uc003ulm.2 uc003ulm.3 uc003ulm.4 uc003ulm.5 uc003ulm.6 
ENST00000004103.8 TMEM176A ENST00000004103.8 Homo sapiens transmembrane protein 176A (TMEM176A), mRNA. (from RefSeq NM_018487) D3DX00 ENST00000004103.1 ENST00000004103.2 ENST00000004103.3 ENST00000004103.4 ENST00000004103.5 ENST00000004103.6 ENST00000004103.7 HCA112 NM_018487 Q96HP8 Q9NYC7 T176A_HUMAN uc003whx.1 uc003whx.2 uc003whx.3 Interacts with MCOLN2. Q96HP8; P11912: CD79A; NbExp=3; IntAct=EBI-2800645, EBI-7797864; Q96HP8; Q9HA82: CERS4; NbExp=3; IntAct=EBI-2800645, EBI-2622997; Q96HP8; Q8NBJ4: GOLM1; NbExp=3; IntAct=EBI-2800645, EBI-712073; Q96HP8; O95279: KCNK5; NbExp=3; IntAct=EBI-2800645, EBI-3934936; Q96HP8; Q99732: LITAF; NbExp=3; IntAct=EBI-2800645, EBI-725647; Q96HP8; Q5SR56: MFSD14B; NbExp=3; IntAct=EBI-2800645, EBI-373355; Q96HP8; Q9H2K0: MTIF3; NbExp=3; IntAct=EBI-2800645, EBI-3923617; Q96HP8; Q86VR2: RETREG3; NbExp=3; IntAct=EBI-2800645, EBI-10192441; Q96HP8; Q9BSN4: SCD5; NbExp=3; IntAct=EBI-2800645, EBI-13385260; Q96HP8; O95470: SGPL1; NbExp=3; IntAct=EBI-2800645, EBI-1046170; Q96HP8; Q9NPL8: TIMMDC1; NbExp=3; IntAct=EBI-2800645, EBI-6268651; Q96HP8; Q3YBM2: TMEM176B; NbExp=3; IntAct=EBI-2800645, EBI-2821479; Q96HP8; Q9Y320: TMX2; NbExp=3; IntAct=EBI-2800645, EBI-6447886; Membrane ; Multi-pass membrane protein Belongs to the TMEM176 family. membrane integral component of membrane negative regulation of dendritic cell differentiation uc003whx.1 uc003whx.2 uc003whx.3 
ENST00000004982.6 HSPB6 ENST00000004982.6 Homo sapiens heat shock protein family B (small) member 6 (HSPB6), mRNA. (from RefSeq NM_144617) ENST00000004982.1 ENST00000004982.2 ENST00000004982.3 ENST00000004982.4 ENST00000004982.5 HEL55 NM_144617 V9HWB6 V9HWB6_HUMAN uc002obn.1 uc002obn.2 uc002obn.3 uc002obn.4 uc002obn.5 This locus encodes a heat shock protein. The encoded protein likely plays a role in smooth muscle relaxation. [provided by RefSeq, Jan 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 :: AK056951.1, SRR3476690.1067911.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000004982.6/ ENSP00000004982.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Nucleus Belongs to the small heat shock protein (HSP20) family. structural constituent of eye lens regulation of muscle contraction negative regulation of cardiac muscle cell apoptotic process protein homodimerization activity uc002obn.1 uc002obn.2 uc002obn.3 uc002obn.4 uc002obn.5 
ENST00000005178.6 PDK4 ENST00000005178.6 Homo sapiens pyruvate dehydrogenase kinase 4 (PDK4), mRNA. (from RefSeq NM_002612) ENST00000005178.1 ENST00000005178.2 ENST00000005178.3 ENST00000005178.4 ENST00000005178.5 NM_002612 PDHK4 PDK4_HUMAN Q16654 uc003uoa.1 uc003uoa.2 uc003uoa.3 uc003uoa.4 uc003uoa.5 This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [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 :: SRR1660803.60745.1, SRR1660805.157673.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000005178.6/ ENSP00000005178.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## 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. Inhibition of pyruvate dehydrogenase decreases glucose utilization and increases fat metabolism in response to prolonged fasting and starvation. Plays an important role in maintaining normal blood glucose levels under starvation, and is involved in the insulin signaling cascade. Via its regulation of pyruvate dehydrogenase activity, plays an important role in maintaining normal blood pH and in preventing the accumulation of ketone bodies under starvation. In the fed state, mediates cellular responses to glucose levels and to a high-fat diet. Regulates both fatty acid oxidation and de novo fatty acid biosynthesis. Plays a role in the generation of reactive oxygen species. Protects detached epithelial cells against anoikis. Plays a role in cell proliferation via its role in regulating carbohydrate and fatty acid metabolism. 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). Q16654; Q9H8W4: PLEKHF2; NbExp=3; IntAct=EBI-2861674, EBI-742388; Mitochondrion matrix. Ubiquitous; highest levels of expression in heart and skeletal muscle. Up-regulated by prolonged fasting, in glucose-deprived cells and in response to a high-fat diet. Down-regulated by insulin. Up- regulated by PPARD. Belongs to the PDK/BCKDK protein kinase family. nucleotide binding protein kinase activity pyruvate dehydrogenase (acetyl-transferring) kinase activity ATP binding mitochondrion mitochondrial matrix carbohydrate metabolic process glucose metabolic process protein phosphorylation regulation of pH insulin receptor signaling pathway cellular response to starvation regulation of acetyl-CoA biosynthetic process from pyruvate regulation of cellular ketone metabolic process regulation of glucose metabolic process kinase activity phosphorylation transferase activity regulation of fatty acid biosynthetic process glucose homeostasis response to starvation regulation of bone resorption regulation of fatty acid oxidation cellular response to fatty acid reactive oxygen species metabolic process negative regulation of anoikis uc003uoa.1 uc003uoa.2 uc003uoa.3 uc003uoa.4 uc003uoa.5 
ENST00000005180.9 CCL26 ENST00000005180.9 Homo sapiens C-C motif chemokine ligand 26 (CCL26), transcript variant 2, mRNA. (from RefSeq NM_001371938) A0N0Q5 CCL26 CCL26_HUMAN ENST00000005180.1 ENST00000005180.2 ENST00000005180.3 ENST00000005180.4 ENST00000005180.5 ENST00000005180.6 ENST00000005180.7 ENST00000005180.8 NM_001371938 Q52LV8 Q9Y258 SCYA26 UNQ216/PRO242 uc064emt.1 uc064emt.2 This gene is one of two Cys-Cys (CC) cytokine genes clustered on the q arm of chromosome 7. Cytokines are a family of secreted proteins involved in immunoregulatory and inflammatory processes. The CC cytokines are proteins characterized by two adjacent cysteines. The cytokine encoded by this gene displays chemotactic activity for normal peripheral blood eosinophils and basophils. The product of this gene is one of three related chemokines that specifically activate chemokine receptor CCR3. This chemokine may contribute to the eosinophil accumulation in atopic diseases. [provided by RefSeq, Jul 2008]. Chemoattractant for eosinophils and basophils (PubMed:10415065, PubMed:10488147). Acts as a ligand for C-C chemokine receptor CCR3 which triggers Ca(2+) mobilization in eosinophils (PubMed:10415065, PubMed:10488147, PubMed:11425309). Also acts as a ligand for CX3C chemokine receptor CX3CR1, inducing cell chemotaxis (PubMed:20974991). Monomer. Q9Y258; Q99616: CCL13; NbExp=2; IntAct=EBI-7783416, EBI-725342; Q9Y258; Q92583: CCL17; NbExp=2; IntAct=EBI-7783416, EBI-16640146; Q9Y258; O00585: CCL21; NbExp=2; IntAct=EBI-7783416, EBI-953695; Q9Y258; Q9NRJ3: CCL28; NbExp=2; IntAct=EBI-7783416, EBI-7783254; Q9Y258; P13501: CCL5; NbExp=4; IntAct=EBI-7783416, EBI-2848366; Q9Y258; P02778: CXCL10; NbExp=2; IntAct=EBI-7783416, EBI-7815386; Q9Y258; O14625: CXCL11; NbExp=2; IntAct=EBI-7783416, EBI-2871971; Q9Y258; P48061: CXCL12; NbExp=2; IntAct=EBI-7783416, EBI-3913254; Q9Y258; O95715: CXCL14; NbExp=2; IntAct=EBI-7783416, EBI-2798068; Q9Y258; Q07325: CXCL9; NbExp=2; IntAct=EBI-7783416, EBI-3911467; Q9Y258; P26367: PAX6; NbExp=3; IntAct=EBI-7783416, EBI-747278; Q9Y258; P02776: PF4; NbExp=3; IntAct=EBI-7783416, EBI-2565740; Q9Y258; Q5BVD1: TTMP; NbExp=3; IntAct=EBI-7783416, EBI-10243654; Q9Y258; P47992: XCL1; NbExp=2; IntAct=EBI-7783416, EBI-10209901; Secreted Ubiquitously expressed at low levels in various tissues including heart and ovary. Belongs to the intercrine beta (chemokine CC) family. Name=Wikipedia; Note=CCL26 entry; URL="https://en.wikipedia.org/wiki/CCL26"; positive regulation of endothelial cell proliferation monocyte chemotaxis cytokine activity protein binding extracellular region extracellular space chemotaxis inflammatory response immune response signal transduction G-protein coupled receptor signaling pathway cell-cell signaling chemokine activity T cell chemotaxis positive regulation of cell migration neutrophil chemotaxis positive regulation of actin filament polymerization CCR3 chemokine receptor binding positive regulation of GTPase activity receptor agonist activity CCR chemokine receptor binding lymphocyte chemotaxis positive regulation of 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 uc064emt.1 uc064emt.2 
ENST00000005257.7 RALA ENST00000005257.7 Homo sapiens RAS like proto-oncogene A (RALA), mRNA. (from RefSeq NM_005402) A4D1W3 ENST00000005257.1 ENST00000005257.2 ENST00000005257.3 ENST00000005257.4 ENST00000005257.5 ENST00000005257.6 NM_005402 P11233 RAL RALA_HUMAN uc003thd.1 uc003thd.2 uc003thd.3 uc003thd.4 uc003thd.5 The product of this gene belongs to the small GTPase superfamily, Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. This gene encodes a low molecular mass ras-like GTP-binding protein that shares about 50% similarity with other ras proteins. [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 :: SRR3476690.815446.1, SRR1803612.213239.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000005257.7/ ENSP00000005257.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## 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 (PubMed:18756269, PubMed:19306925, PubMed:20005108, PubMed:21822277, PubMed:30500825). Acts as a GTP sensor for GTP-dependent exocytosis of dense core vesicles. The RALA- exocyst complex regulates integrin-dependent membrane raft exocytosis and growth signaling (PubMed:20005108). 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 (PubMed:19306925). 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 (PubMed:18756269). 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 (PubMed:21822277). 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 (PubMed:7673236, PubMed:21822277). Interacts with EXOC2/Sec5 and EXOC8/Exo84; binding to EXOC2 and EXOC8 is mutually exclusive (PubMed:14525976, PubMed:18756269, PubMed:15920473). Interacts with Clostridium exoenzyme C3 (PubMed:16177825, PubMed:15809419). Interacts with RALGPS1 (PubMed:10747847). Interacts with LPAR1 and LPAR2. Interacts with GRK2 in response to LPAR1 activation. RALA and GRK2 binding to LPAR1 is mutually exclusive (PubMed:19306925). Interacts with CDC42 (By similarity). P11233; P01112: HRAS; NbExp=2; IntAct=EBI-1036803, EBI-350145; P11233; P30154: PPP2R1B; NbExp=6; IntAct=EBI-1036803, EBI-357094; P11233; Q15311: RALBP1; NbExp=6; IntAct=EBI-1036803, EBI-749285; P11233; O54921: Exoc2; Xeno; NbExp=2; IntAct=EBI-1036803, EBI-1036795; Cell membrane ipid-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 (PubMed:19306925). May colocalize with CNTRL/centriolin at the midbody ring (PubMed:16213214). However, localization at the midbody at late cytokinesis was not confirmed (PubMed:18756269). Relocalizes to the mitochondrion during mitosis where it regulates mitochondrial fission (PubMed:21822277). Activated in an LPA-dependent manner by LPAR1 and in an LPA- independent manner by LPAR2. Phosphorylated. Phosphorylation at Ser-194 by AURKA/Aurora kinase A, during mitosis, induces RALA localization to the mitochondrion where it regulates mitochondrial fission. Prenylation is essential for membrane localization. The geranylgeranylated form and the farnesylated mutant do not undergo alternative prenylation in response to geranylgeranyltransferase I inhibitors (GGTIs) and farnesyltransferase I inhibitors (FTIs). (Microbial infection) Glucosylated at Thr-46 by P.sordellii toxin TcsL from strain 6018 (PubMed:8858106). Monoglucosylation completely prevents the recognition of the downstream effector, blocking the GTPases in their inactive form (PubMed:8858106). Not glucosylated by TcsL from strain VPI 9048 (PubMed:8858106). Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) [MIM:619311]: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, delayed walking or inability to walk, impaired intellectual development, poor or absent speech, axial hypotonia, and facial dysmorphism. Additional variable features may include seizures, autistic or behavioral abnormalities, and brain abnormalities. te=The disease is caused by variants affecting the gene represented in this entry. Belongs to the small GTPase superfamily. Ras family. nucleotide binding neural tube closure GTPase activity protein binding GTP binding plasma membrane focal adhesion exocytosis chemotaxis cell cycle signal transduction Ras protein signal transduction cell surface membrane myosin binding regulation of exocytosis GDP binding cytoplasmic vesicle membrane actin cytoskeleton reorganization ubiquitin protein ligase binding Edg-2 lysophosphatidic acid receptor binding cleavage furrow interleukin-12-mediated signaling pathway ATPase binding cell division positive regulation of filopodium assembly membrane raft localization membrane organization extracellular exosome Flemming body endocytic vesicle uc003thd.1 uc003thd.2 uc003thd.3 uc003thd.4 uc003thd.5 
ENST00000005259.9 BCAP29 ENST00000005259.9 Homo sapiens B cell receptor associated protein 29 (BCAP29), transcript variant 23, non-coding RNA. (from RefSeq NR_163938) BAP29 BAP29_HUMAN ENST00000005259.1 ENST00000005259.2 ENST00000005259.3 ENST00000005259.4 ENST00000005259.5 ENST00000005259.6 ENST00000005259.7 ENST00000005259.8 G5E9L4 NR_163938 O95003 Q9UHQ4 uc003vej.1 uc003vej.2 uc003vej.3 uc003vej.4 May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi. May be involved in CASP8- mediated apoptosis (By similarity). Homodimer (PubMed:25327138). Heterodimer with BCAP31. Binds CASP8 (isoform 9) as a complex containing BCAP31, BCAP29, BCL2 and/or BCL2L1. Interacts with VAMP3, VAMP1 and membrane IgD immunoglobulins. May interact with ACTG1 and non-muscle myosin II (By similarity). Endoplasmic reticulum membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9UHQ4-1; Sequence=Displayed; Name=2; IsoId=Q9UHQ4-2; Sequence=VSP_047096; Belongs to the BCAP29/BCAP31 family. osteoblast differentiation endoplasmic reticulum endoplasmic reticulum membrane integral component of plasma membrane intracellular protein transport ER to Golgi vesicle-mediated transport apoptotic process protein transport membrane integral component of membrane vesicle-mediated transport protein localization to endoplasmic reticulum exit site uc003vej.1 uc003vej.2 uc003vej.3 uc003vej.4 
ENST00000005260.9 BAIAP2L1 ENST00000005260.9 Homo sapiens BAR/IMD domain containing adaptor protein 2 like 1 (BAIAP2L1), mRNA. (from RefSeq NM_018842) A4D268 BI2L1_HUMAN ENST00000005260.1 ENST00000005260.2 ENST00000005260.3 ENST00000005260.4 ENST00000005260.5 ENST00000005260.6 ENST00000005260.7 ENST00000005260.8 IRTKS NM_018842 Q75L21 Q75L22 Q96CV4 Q9H5F5 Q9UHR4 Q9Y2M8 uc003upj.1 uc003upj.2 uc003upj.3 uc003upj.4 uc003upj.5 This gene encodes a member of the IMD (IRSp53/MIM homology domain) family. Members of this family can be subdivided in two groups, the IRSp53-like and MIM-like, based on the presence or absence of the SH3 (Src homology 3) domain. The protein encoded by this gene contains a conserved IMD, also known as F-actin bundling domain, at the N-terminus, and a canonical SH3 domain near the C-terminus, so it belongs to the IRSp53-like group. This protein is the substrate for insulin receptor tyrosine kinase and binds to the small GTPase Rac. It is involved in signal transduction pathways that link deformation of the plasma membrane and remodeling of the actin cytoskeleton. It also promotes actin assembly and membrane protrusions when overexpressed in mammalian cells, and is essential to the formation of a potent actin assembly complex during EHEC (Enterohemorrhagic Escherichia coli) pedestal formation. [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 :: SRR1803611.72776.1, AF119666.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000005260.9/ ENSP00000005260.8 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May function as adapter protein. Involved in the formation of clusters of actin bundles. Plays a role in the reorganization of the actin cytoskeleton in response to bacterial infection. Interacts with RAC1. Binds to F-actin. Interacts with FASLG. Interacts (via SH3 domain) with E.coli effector protein EspF(U) (via PXXP motifs). Identified in a complex containing at least WASL, BAIAP2L1 and E.coli EspF(U). Interacts with E.coli intimin receptor Tir. Q9UHR4; O95817: BAG3; NbExp=3; IntAct=EBI-2483278, EBI-747185; Q9UHR4; Q9UQB8-6: BAIAP2; NbExp=3; IntAct=EBI-2483278, EBI-9092016; Q9UHR4; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-2483278, EBI-3867333; Q9UHR4; Q12929: EPS8; NbExp=4; IntAct=EBI-2483278, EBI-375576; Q9UHR4; O43813: LANCL1; NbExp=3; IntAct=EBI-2483278, EBI-3046631; Q9UHR4; P0DJ88: espF(U); Xeno; NbExp=9; IntAct=EBI-2483278, EBI-10039462; Q9UHR4; Q7DB77: tir; Xeno; NbExp=3; IntAct=EBI-2483278, EBI-6480811; Cytoplasm, cytoskeleton Note=Recruited to actin pedestals that are formed upon infection by bacteria at bacterial attachment sites. The IMD domain is predicted to have a helical structure. It may induce actin bundling and filopodia formation (By similarity). Phosphorylated on tyrosine in response to insulin. Sequence=AAD20937.1; Type=Erroneous gene model prediction; Evidence=; Sequence=AAS07549.1; Type=Erroneous initiation; Evidence=; Sequence=BAB15671.1; Type=Erroneous initiation; Evidence=; actin binding protein binding nucleoplasm cytoplasm cytosol cytoskeleton plasma membrane cell-cell adherens junction plasma membrane organization response to bacterium actin cytoskeleton regulation of actin filament polymerization positive regulation of actin filament polymerization regulation of insulin receptor signaling pathway actin filament bundle assembly actin crosslink formation extracellular exosome proline-rich region binding cell-cell adhesion cadherin binding involved in cell-cell adhesion positive regulation of actin cytoskeleton reorganization uc003upj.1 uc003upj.2 uc003upj.3 uc003upj.4 uc003upj.5 
ENST00000005284.4 CACNG3 ENST00000005284.4 Homo sapiens calcium voltage-gated channel auxiliary subunit gamma 3 (CACNG3), mRNA. (from RefSeq NM_006539) CCG3_HUMAN ENST00000005284.1 ENST00000005284.2 ENST00000005284.3 NM_006539 O60359 uc002dmf.1 uc002dmf.2 uc002dmf.3 uc002dmf.4 uc002dmf.5 The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family. This gene is a susceptibility locus for childhood absence epilepsy. [provided by RefSeq, Dec 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. ##Evidence-Data-START## Transcript exon combination :: SRR1803615.263009.1, SRR1803613.49646.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000005284.4/ ENSP00000005284.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Regulates the trafficking to the somatodendritic compartment 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. The L-type calcium channel is composed of five subunits: alpha-1, alpha-2/delta, beta and gamma. Acts as an auxiliary subunit for AMPA-selective glutamate receptors (AMPARs). Found in a complex with GRIA1, GRIA2, GRIA3, GRIA4, CNIH2, CNIH3, CACNG2, CACNG4, CACNG5, CACNG7 and CACNG8. Interacts with AP4M1 and GRIA1; associates GRIA1 with the adaptor protein complex 4 (AP-4) to target GRIA1 to the somatodendritic compartment of neurons. Membrane ; Multi-pass membrane protein Note=Displays a somatodendritic localization and is excluded from axons in neurons. Belongs to the PMP-22/EMP/MP20 family. CACNG subfamily. voltage-gated ion channel activity voltage-gated calcium channel activity calcium channel activity plasma membrane voltage-gated calcium channel complex protein targeting ion transport calcium ion transport protein localization membrane integral component of membrane transmission of nerve impulse PDZ domain binding dendrite endocytic vesicle membrane AMPA glutamate receptor complex regulation of ion transmembrane transport ionotropic glutamate receptor binding somatodendritic compartment excitatory synapse cardiac conduction calcium ion transmembrane transport postsynaptic density membrane neurotransmitter receptor transport, postsynaptic endosome to lysosome postsynaptic neurotransmitter receptor diffusion trapping glutamatergic synapse integral component of postsynaptic density membrane neurotransmitter receptor internalization neurotransmitter receptor localization to postsynaptic specialization 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 uc002dmf.1 uc002dmf.2 uc002dmf.3 uc002dmf.4 uc002dmf.5 
ENST00000005340.10 DVL2 ENST00000005340.10 Homo sapiens dishevelled segment polarity protein 2 (DVL2), mRNA. (from RefSeq NM_004422) D3DTN3 DVL2_HUMAN ENST00000005340.1 ENST00000005340.2 ENST00000005340.3 ENST00000005340.4 ENST00000005340.5 ENST00000005340.6 ENST00000005340.7 ENST00000005340.8 ENST00000005340.9 NM_004422 O14641 Q53XM0 uc002gez.1 uc002gez.2 uc002gez.3 This gene encodes a member of the dishevelled (dsh) protein family. The vertebrate dsh proteins have approximately 40% amino acid sequence similarity with Drosophila dsh. This gene encodes a 90-kD protein that undergoes posttranslational phosphorylation to form a 95-kD cytoplasmic protein, which may play a role in the signal transduction pathway mediated by multiple Wnt proteins. The mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. [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 :: BC014844.1, SRR1660803.149730.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000005340.10/ ENSP00000005340.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Plays a role in the signal transduction pathways mediated by multiple Wnt genes. Participates both in canonical and non-canonical Wnt signaling by binding to the cytoplasmic C-terminus of frizzled family members and transducing the Wnt signal to down-stream effectors. Promotes internalization and degradation of frizzled proteins upon Wnt signaling. Interacts through its PDZ domain with the C-terminal regions of VANGL1 and VANGL2. Interacts with Rac. Interacts with ARRB1; the interaction is enhanced by phosphorylation of DVL1 (By similarity). Can form large oligomers (via DIX domain). Interacts (via DIX domain) with DIXDC1 (via DIX domain). Interacts (via DEP domain) with AP2M1 and the AP-2 complex (By similarity). Interacts with DACT1 and FAM105B/otulin. Interacts with DCDC2. Interacts (when phosphorylated) with FOXK1 and FOXK2; the interaction induces DVL2 nuclear translocation (PubMed:25805136). Interacts with MAPK15 (By similarity). Interacts with PKD1 (via extracellular domain) (PubMed:27214281). Interacts with LMBR1L (By similarity). O14641; P25054: APC; NbExp=2; IntAct=EBI-740850, EBI-727707; O14641; O15169: AXIN1; NbExp=3; IntAct=EBI-740850, EBI-710484; O14641; P28329-3: CHAT; NbExp=3; IntAct=EBI-740850, EBI-25837549; O14641; Q5R2U3: CK1E; NbExp=2; IntAct=EBI-740850, EBI-9106301; O14641; P49674: CSNK1E; NbExp=4; IntAct=EBI-740850, EBI-749343; O14641; Q9NYF0: DACT1; NbExp=6; IntAct=EBI-740850, EBI-3951744; O14641; Q155Q3: DIXDC1; NbExp=2; IntAct=EBI-740850, EBI-1104700; O14641; O14641: DVL2; NbExp=4; IntAct=EBI-740850, EBI-740850; O14641; P22607: FGFR3; NbExp=3; IntAct=EBI-740850, EBI-348399; O14641; P01112: HRAS; NbExp=3; IntAct=EBI-740850, EBI-350145; O14641; Q5S007: LRRK2; NbExp=5; IntAct=EBI-740850, EBI-5323863; O14641; P53350: PLK1; NbExp=2; IntAct=EBI-740850, EBI-476768; O14641; P57078: RIPK4; NbExp=4; IntAct=EBI-740850, EBI-4422308; O14641; Q96CG3: TIFA; NbExp=3; IntAct=EBI-740850, EBI-740711; O14641; Q08117-2: TLE5; NbExp=3; IntAct=EBI-740850, EBI-11741437; O14641; P04637: TP53; NbExp=6; IntAct=EBI-740850, EBI-366083; O14641; Q14134: TRIM29; NbExp=5; IntAct=EBI-740850, EBI-702370; O14641; Q96RL1: UIMC1; NbExp=4; IntAct=EBI-740850, EBI-725300; O14641; Q9GZV5: WWTR1; NbExp=4; IntAct=EBI-740850, EBI-747743; O14641; P49910: ZNF165; NbExp=3; IntAct=EBI-740850, EBI-741694; O14641; Q9Z101: Pard6a; Xeno; NbExp=6; IntAct=EBI-740850, EBI-81732; O14641; A2A5Z6: Smurf2; Xeno; NbExp=8; IntAct=EBI-740850, EBI-2348309; Cell membrane ; Peripheral membrane protein ; Cytoplasmic side Cytoplasm, cytosol Cytoplasmic vesicle Nucleus Note=Localizes at the cell membrane upon interaction with frizzled family members and promotes their internalization. Localizes to cytoplasmic puncta (By similarity). Interaction with FOXK1 and FOXK2 induces nuclear translocation (PubMed:25805136). The DIX domain mediates homooligomerization. Phosphorylated by CSNK1D (PubMed:21422228, PubMed:9192851). WNT3A induces DVL2 phosphorylation by CSNK1E and MARK kinases (PubMed:25805136). Belongs to the DSH family. neural tube closure positive regulation of protein phosphorylation heart morphogenesis outflow tract morphogenesis frizzled binding protein binding nucleus nucleoplasm cytoplasm cytosol plasma membrane transcription from RNA polymerase II promoter multicellular organism development segment specification heart development membrane Wnt signaling pathway aggresome lateral plasma membrane nuclear body protein kinase binding protein domain specific binding convergent extension involved in neural plate elongation clathrin-coated vesicle protein binding, bridging cytoplasmic vesicle cellular protein localization segmentation hippo signaling intracellular signal transduction non-canonical Wnt signaling pathway identical protein binding positive regulation of JUN kinase activity positive regulation of GTPase activity protein self-association canonical Wnt signaling pathway involved in regulation of cell proliferation apical part of cell clathrin-coated endocytic vesicle positive regulation of transcription, DNA-templated Rac GTPase binding positive regulation of sequence-specific DNA binding transcription factor activity convergent extension involved in organogenesis canonical Wnt signaling pathway Wnt signaling pathway, planar cell polarity pathway membrane organization positive regulation of protein tyrosine kinase activity negative regulation of canonical Wnt signaling pathway cochlea morphogenesis planar cell polarity pathway involved in neural tube closure beta-catenin destruction complex disassembly uc002gez.1 uc002gez.2 uc002gez.3 
ENST00000005386.8 RPAP3 ENST00000005386.8 Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA. (from RefSeq NM_024604) B4DRW9 ENST00000005386.1 ENST00000005386.2 ENST00000005386.3 ENST00000005386.4 ENST00000005386.5 ENST00000005386.6 ENST00000005386.7 NM_024604 Q6PHR5 Q9H6T3 RPAP3_HUMAN uc001rpr.1 uc001rpr.2 uc001rpr.3 uc001rpr.4 uc001rpr.5 This gene encodes an RNA polymerase II-associated protein. The encoded protein may function in transcriptional regulation and may also regulate apoptosis. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]. Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation. Tightly associated with the RNA polymerase II complex (PubMed:17643375). Component of the R2TP complex composed at least of RUVBL1, RUVBL2, RPAP3 and PIHD1 (PubMed:20864032). 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 (PubMed:31738558). Interacts with PIH1D1 (PubMed:21078300). Interacts with TSC1 and TSC2 (PubMed:28561026). Interacts with PRPF8 and EFTUD2 in a ZNHIT2- dependent manner (PubMed:28561026). Q9H6T3; Q96MX6: DNAAF10; NbExp=5; IntAct=EBI-356928, EBI-2434101; Q9H6T3; P07900: HSP90AA1; NbExp=6; IntAct=EBI-356928, EBI-296047; Q9H6T3; Q9UHV9: PFDN2; NbExp=2; IntAct=EBI-356928, EBI-359873; Q9H6T3; P54274: TERF1; NbExp=2; IntAct=EBI-356928, EBI-710997; Q9H6T3; O94763: URI1; NbExp=2; IntAct=EBI-356928, EBI-357067; Q9H6T3; Q9UBK9: UXT; NbExp=2; IntAct=EBI-356928, EBI-357355; Q9H6T3; Q98140: ORF24; Xeno; NbExp=2; IntAct=EBI-356928, EBI-14033488; Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H6T3-1; Sequence=Displayed; Name=2; IsoId=Q9H6T3-2; Sequence=VSP_027957; Name=3; IsoId=Q9H6T3-3; Sequence=VSP_044882; Belongs to the RPAP3 family. protein binding cytosol R2TP complex uc001rpr.1 uc001rpr.2 uc001rpr.3 uc001rpr.4 uc001rpr.5 
ENST00000005756.5 UPP2 ENST00000005756.5 Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 1, mRNA. (from RefSeq NM_173355) B3KV87 ENST00000005756.1 ENST00000005756.2 ENST00000005756.3 ENST00000005756.4 NM_173355 O95045 UPP2 UPP2_HUMAN uc002tzp.1 uc002tzp.2 uc002tzp.3 uc002tzp.4 uc002tzp.5 Catalyzes the reversible phosphorylytic cleavage of uridine to uracil and ribose-1-phosphate which can then be utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis (PubMed:12849978, PubMed:21855639). Shows broad substrate specificity and can also accept deoxyuridine and other analogous compounds (PubMed:12849978). Reaction=phosphate + uridine = alpha-D-ribose 1-phosphate + uracil; Xref=Rhea:RHEA:24388, ChEBI:CHEBI:16704, ChEBI:CHEBI:17568, ChEBI:CHEBI:43474, ChEBI:CHEBI:57720; EC=2.4.2.3; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:24389; Evidence=; Reaction=2'-deoxyuridine + phosphate = 2-deoxy-alpha-D-ribose 1- phosphate + uracil; Xref=Rhea:RHEA:22824, ChEBI:CHEBI:16450, ChEBI:CHEBI:17568, ChEBI:CHEBI:43474, ChEBI:CHEBI:57259; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22825; Evidence=; A conditional disulfide bridge can form within the protein that dislocates a critical phosphate-coordinating arginine Arg- 100 away from the active site, disabling the enzyme. Kinetic parameters: KM=76 uM for uridine ; KM=300 uM for deoxyuridine ; KM=73 uM for thymidine ; KM=24 uM for 5-fluorouridine ; KM=427 uM for 5-fluoro-2(')-deoxyuridine ; Vmax=4.0 nmol/min/ug enzyme toward uridine ; Vmax=1.2 nmol/min/ug enzyme toward deoxyuridine ; Vmax=0.18 nmol/min/ug enzyme toward thymidine ; Vmax=1.6 nmol/min/ug enzyme toward 5-fluorouridine ; Vmax=0.8 nmol/min/ug enzyme toward 5-fluoro-2(')-deoxyuridine ; Pyrimidine metabolism; UMP biosynthesis via salvage pathway; uracil from uridine (phosphorylase route): step 1/1. Homodimer. O95045; Q8IUQ4: SIAH1; NbExp=3; IntAct=EBI-10191025, EBI-747107; O95045; O95045: UPP2; NbExp=3; IntAct=EBI-10191025, EBI-10191025; O95045-2; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-11528386, EBI-739832; O95045-2; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-11528386, EBI-16439278; O95045-2; Q13084: MRPL28; NbExp=3; IntAct=EBI-11528386, EBI-723426; O95045-2; Q8IUQ4-2: SIAH1; NbExp=6; IntAct=EBI-11528386, EBI-11522811; O95045-2; A0A0S2Z6U5: UPP2; NbExp=3; IntAct=EBI-11528386, EBI-16432858; O95045-2; O95045-2: UPP2; NbExp=6; IntAct=EBI-11528386, EBI-11528386; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95045-1; Sequence=Displayed; Name=2; IsoId=O95045-2; Sequence=VSP_043756; Predominantly expressed in kidney. Belongs to the PNP/UDP phosphorylase family. Sequence=AAH33529.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; catalytic activity uridine phosphorylase activity protein binding cytoplasm cytosol nucleoside metabolic process nucleotide catabolic process transferase activity transferase activity, transferring glycosyl groups transferase activity, transferring pentosyl groups identical protein binding pyrimidine nucleoside salvage UMP salvage type III intermediate filament uridine metabolic process pyrimidine nucleoside catabolic process uc002tzp.1 uc002tzp.2 uc002tzp.3 uc002tzp.4 uc002tzp.5 
ENST00000005995.8 PRSS21 ENST00000005995.8 Homo sapiens serine protease 21 (PRSS21), transcript variant 5, non-coding RNA. (from RefSeq NR_073012) ENST00000005995.1 ENST00000005995.2 ENST00000005995.3 ENST00000005995.4 ENST00000005995.5 ENST00000005995.6 ENST00000005995.7 ESP1 NR_073012 Q9NS34 Q9P2V6 Q9Y6M0 TEST1 TEST_HUMAN UNQ266/PRO303 uc002crt.1 uc002crt.2 uc002crt.3 uc002crt.4 uc002crt.5 uc002crt.6 This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. The encoded protein is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The encoded protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and may be involved in progression of testicular tumors of germ cell origin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. Could regulate proteolytic events associated with testicular germ cell maturation. Q9Y6M0; P36952: SERPINB5; NbExp=7; IntAct=EBI-7054564, EBI-2371394; Cell membrane ; Lipid-anchor, GPI- anchor Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=L; IsoId=Q9Y6M0-1; Sequence=Displayed; Name=2; Synonyms=S; IsoId=Q9Y6M0-2; Sequence=VSP_005389; Name=3; IsoId=Q9Y6M0-3; Sequence=VSP_005390; Expressed predominantly in premeiotic testicular germ cells, mostly late pachytene and diplotene spermatocytes. Belongs to the peptidase S1 family. serine-type endopeptidase activity protein binding extracellular region extracellular space cytoplasm plasma membrane proteolysis spermatogenesis peptidase activity serine-type peptidase activity membrane hydrolase activity anchored component of membrane uc002crt.1 uc002crt.2 uc002crt.3 uc002crt.4 uc002crt.5 uc002crt.6 
ENST00000006015.4 HOXA11 ENST00000006015.4 Homo sapiens homeobox A11 (HOXA11), mRNA. (from RefSeq NM_005523) A4D190 ENST00000006015.1 ENST00000006015.2 ENST00000006015.3 HOX1I HXA11_HUMAN NM_005523 P31270 uc003syx.1 uc003syx.2 uc003syx.3 uc003syx.4 uc003syx.5 In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [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 :: BC040948.1, AK313921.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000006015.4/ ENSP00000006015.3 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. Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (RUSAT1) [MIM:605432]: The syndrome consists of an unusual association of bone marrow failure and skeletal defects. Patients have the same skeletal defects, the proximal fusion of the radius and ulna, resulting in extremely limited pronation and supination of the forearm. Some patients have also symptomatic thrombocytopenia, with bruising and bleeding problems since birth, necessitating correction by bone marrow or umbilical-cord stem-cell transplantation. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the Abd-B homeobox family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/40847/HOXA11"; RNA polymerase II transcription factor activity, sequence-specific DNA binding skeletal system development metanephros development branching involved in ureteric bud morphogenesis organ induction DNA binding nucleus nucleoplasm transcription factor complex regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter multicellular organism development spermatogenesis single fertilization mesodermal cell fate specification male gonad development anatomical structure morphogenesis anterior/posterior pattern specification dorsal/ventral pattern formation proximal/distal pattern formation regulation of gene expression positive regulation of cell development embryonic limb morphogenesis regulation of chondrocyte differentiation positive regulation of chondrocyte differentiation macromolecular complex protein-DNA complex embryonic forelimb morphogenesis embryonic digit morphogenesis sequence-specific DNA binding positive regulation of transcription, DNA-templated developmental growth uterus development embryonic skeletal joint morphogenesis bone development cartilage development involved in endochondral bone morphogenesis uc003syx.1 uc003syx.2 uc003syx.3 uc003syx.4 uc003syx.5 
ENST00000006053.7 CX3CL1 ENST00000006053.7 Homo sapiens C-X3-C motif chemokine ligand 1 (CX3CL1), transcript variant 1, mRNA. (from RefSeq NM_002996) A-152E5.2 CX3CL1 ENST00000006053.1 ENST00000006053.2 ENST00000006053.3 ENST00000006053.4 ENST00000006053.5 ENST00000006053.6 FKN NM_002996 NTT O00672 P78423 SCYD1 X3CL1_HUMAN uc002eli.1 uc002eli.2 uc002eli.3 uc002eli.4 uc002eli.5 This gene belongs to the CX3C subgroup of chemokines, characterized by the number of amino acids located between the conserved cysteine residues. This is the only member of the CX3C subgroup, which contains three amino acids between cysteine residues, resulting in a Cys-X-X-X-Cys configuration. The encoded protein contains an extended mucin-like stalk with a chemokine domain on top, and exists in both a membrane-anchored form where it acts as a binding molecule, or, in soluble form, as a chemotactic cytokine. The mature form of this protein can be cleaved at the cell surface, yielding different soluble forms that can interact with the G-protein coupled receptor, C-X3-C motif chemokine receptor 1 gene product. This gene plays a role in a wide range of diseases, including cancer, vasculitis, neuropathies, atherosclerosis, inflammatory diseases, and in human immunodeficiency virus infections. [provided by RefSeq, Sep 2017]. Chemokine that acts as a ligand for both CX3CR1 and integrins ITGAV:ITGB3 and ITGA4:ITGB1 (PubMed:9782118, PubMed:12055230, PubMed:23125415, PubMed:9931005, PubMed:21829356). The CX3CR1-CX3CL1 signaling exerts distinct functions in different tissue compartments, such as immune response, inflammation, cell adhesion and chemotaxis (PubMed:9024663, PubMed:9177350, PubMed:9782118, PubMed:12055230). Regulates leukocyte adhesion and migration processes at the endothelium (PubMed:9024663, PubMed:9177350). Can activate integrins in both a CX3CR1-dependent and CX3CR1-independent manner (PubMed:23125415, PubMed:24789099). In the presence of CX3CR1, activates integrins by binding to the classical ligand-binding site (site 1) in integrins (PubMed:23125415, PubMed:24789099). In the absence of CX3CR1, binds to a second site (site 2) in integrins which is distinct from site 1 and enhances the binding of other integrin ligands to site 1 (PubMed:23125415, PubMed:24789099). [Processed fractalkine]: The soluble form is chemotactic for T-cells and monocytes, but not for neutrophils. [Fractalkine]: The membrane-bound form promotes adhesion of those leukocytes to endothelial cells. (Microbial infection) Mediates the cytoadherence of erythrocytes infected with parasite P.falciparum (strain 3D7) with endothelial cells by interacting with P.falciparum CBP1 and CBP2 expressed at the surface of erythrocytes (PubMed:27653778). The adhesion prevents the elimination of infected erythrocytes by the spleen (Probable). Monomer (PubMed:9931005). Forms a ternary complex with CX3CR1 and ITGAV:ITGB3 or ITGA4:ITGB1 (PubMed:23125415). (Microbial infection) Interacts with pox virus crmD; this inhibits cell migration mediated by CX3CL1. (Microbial infection) Interacts (via N-terminus) with human cytomegalovirus (HHV-5) US28. (Microbial infection) Interacts with P.falciparum (strain 3D7) CBP1 and CBP2 (via their extracellular domains); the interaction mediates the adhesion of infected erythrocytes with endothelial cells. P78423; P05556: ITGB1; NbExp=2; IntAct=EBI-15188013, EBI-703066; P78423; P05106: ITGB3; NbExp=6; IntAct=EBI-15188013, EBI-702847; P78423; P69332: US28; Xeno; NbExp=4; IntAct=EBI-15188013, EBI-16147206; Cell membrane ; Single-pass type I membrane protein [Processed fractalkine]: Secreted Expressed in the seminal plasma, endometrial fluid and follicular fluid (at protein level). Small intestine, colon, testis, prostate, heart, brain, lung, skeletal muscle, kidney and pancreas. Most abundant in the brain and heart. By TNF and IL1/interleukin-1 in pulmonary endothelial cells and umbilical vein endothelial cells. A soluble short 95 kDa form may be released by proteolytic cleavage from the long membrane-anchored form. O-glycosylated with core 1 or possibly core 8 glycans. Belongs to the intercrine delta family. Name=Wikipedia; Note=CX3CL1 entry; URL="https://en.wikipedia.org/wiki/CX3CL1"; microglial cell activation positive regulation of cell-matrix adhesion positive regulation of neuroblast proliferation leukocyte migration involved in inflammatory response monocyte chemotaxis response to ischemia receptor binding cytokine activity integrin binding protein binding extracellular region extracellular space plasma membrane chemotaxis defense response inflammatory response immune response cell adhesion G-protein coupled receptor signaling pathway cell-cell signaling aging chemokine activity positive regulation of cell proliferation cell surface negative regulation of cell-substrate adhesion positive regulation of neuron projection development membrane integral component of membrane neuron remodeling cytokine-mediated signaling pathway negative regulation of cell migration neutrophil chemotaxis leukocyte chemotaxis regulation of lipopolysaccharide-mediated signaling pathway CX3C chemokine receptor binding positive regulation of actin filament bundle assembly negative regulation of interleukin-1 alpha production negative regulation of interleukin-1 beta production negative regulation of interleukin-6 production negative regulation of tumor necrosis factor production positive regulation of transforming growth factor beta1 production integrin activation autocrine signaling chemoattractant activity wound healing cell projection neuron projection neuronal cell body negative regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of MAPK cascade positive regulation of GTPase activity cell body CXCR1 chemokine receptor binding positive regulation of angiogenesis positive regulation of transcription from RNA polymerase II promoter CCR chemokine receptor binding regulation of synaptic plasticity eosinophil chemotaxis macrophage chemotaxis lymphocyte chemotaxis perinuclear region of cytoplasm positive regulation of smooth muscle cell proliferation positive regulation of inflammatory response regulation of neurogenesis leukocyte adhesive activation positive chemotaxis positive regulation of calcium-independent cell-cell adhesion positive regulation of NF-kappaB transcription factor activity positive regulation of release of sequestered calcium ion into cytosol positive regulation of protein kinase B signaling angiogenesis involved in wound healing cell chemotaxis microglial cell proliferation neuron cellular homeostasis 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 cell-cell adhesion synapse disassembly negative regulation of glutamate receptor signaling pathway positive regulation of I-kappaB phosphorylation negative regulation of microglial cell activation negative regulation of tumor necrosis factor secretion negative regulation of neuron migration negative regulation of apoptotic signaling pathway negative regulation of extrinsic apoptotic signaling pathway in absence of ligand uc002eli.1 uc002eli.2 uc002eli.3 uc002eli.4 uc002eli.5 
ENST00000006658.11 SPATA20 ENST00000006658.11 Homo sapiens spermatogenesis associated 20 (SPATA20), transcript variant 1, mRNA. (from RefSeq NM_022827) ENST00000006658.1 ENST00000006658.10 ENST00000006658.2 ENST00000006658.3 ENST00000006658.4 ENST00000006658.5 ENST00000006658.6 ENST00000006658.7 ENST00000006658.8 ENST00000006658.9 NM_022827 Q2TA99 Q2XUZ6 Q6P0P1 Q8TB22 Q8WVW3 Q9H747 SPT20_HUMAN uc002ird.1 uc002ird.2 uc002ird.3 uc002ird.4 uc002ird.5 May play a role in fertility regulation. Secreted Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q8TB22-1; Sequence=Displayed; Name=2; IsoId=Q8TB22-2; Sequence=VSP_023290; Name=3; IsoId=Q8TB22-3; Sequence=VSP_023288; Name=4; IsoId=Q8TB22-4; Sequence=VSP_023289, VSP_023291, VSP_023292; [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. catalytic activity extracellular region multicellular organism development spermatogenesis cell differentiation uc002ird.1 uc002ird.2 uc002ird.3 uc002ird.4 uc002ird.5 
ENST00000006750.8 CD79B ENST00000006750.8 Homo sapiens CD79b molecule (CD79B), transcript variant 1, mRNA. (from RefSeq NM_000626) B29 CD79B_HUMAN ENST00000006750.1 ENST00000006750.2 ENST00000006750.3 ENST00000006750.4 ENST00000006750.5 ENST00000006750.6 ENST00000006750.7 IGB NM_000626 P40259 Q53FS2 Q9BU06 uc002jdq.1 uc002jdq.2 uc002jdq.3 The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]. Required in cooperation with CD79A for initiation of the signal transduction cascade activated by the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Enhances phosphorylation of CD79A, possibly by recruiting kinases which phosphorylate CD79A or by recruiting proteins which bind to CD79A and protect it from dephosphorylation. 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 (PubMed:35981043). Interacts with LYN (By similarity). P40259; O43765: SGTA; NbExp=6; IntAct=EBI-2873732, EBI-347996; P40259; Q96EQ0: SGTB; NbExp=3; IntAct=EBI-2873732, EBI-744081; P40259-1; P40259-1: CD79B; NbExp=3; IntAct=EBI-15869023, EBI-15869023; Cell membrane; Single-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. Event=Alternative splicing; Named isoforms=3; Name=Long; IsoId=P40259-1; Sequence=Displayed; Name=Short; IsoId=P40259-2; Sequence=VSP_002477; Name=3; IsoId=P40259-3; Sequence=VSP_047222; 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 upon B-cell activation by SRC-type Tyr- kinases such as BLK, LYN and SYK. Agammaglobulinemia 6, autosomal recessive (AGM6) [MIM:612692]: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. Note=The disease is caused by variants affecting the gene represented in this entry. Name=CD79Bbase; Note=CD79B mutation db; URL="http://structure.bmc.lu.se/idbase/CD79Bbase/"; adaptive immune response immune system process transmembrane signaling receptor activity protein binding nucleoplasm Golgi apparatus cytosol plasma membrane integral component of plasma membrane immune response signal transduction cell surface receptor signaling pathway response to bacterium external side of plasma membrane membrane integral component of membrane B cell receptor complex B cell differentiation identical protein binding protein homodimerization activity B cell receptor signaling pathway protein homooligomerization extracellular exosome uc002jdq.1 uc002jdq.2 uc002jdq.3 
ENST00000006777.11 RHBDD2 ENST00000006777.11 Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 6, mRNA. (from RefSeq NM_001346189) ENST00000006777.1 ENST00000006777.10 ENST00000006777.2 ENST00000006777.3 ENST00000006777.4 ENST00000006777.5 ENST00000006777.6 ENST00000006777.7 ENST00000006777.8 ENST00000006777.9 NM_001346189 Q6NTF9 Q7L534 Q9H5W6 Q9HBK7 Q9UDT2 RHBD2_HUMAN RHBDL7 uc003udw.1 uc003udw.2 uc003udw.3 The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]. Q6NTF9-3; O95870: ABHD16A; NbExp=3; IntAct=EBI-17589229, EBI-348517; Q6NTF9-3; Q13085-4: ACACA; NbExp=3; IntAct=EBI-17589229, EBI-12562760; Q6NTF9-3; Q96CM8: ACSF2; NbExp=3; IntAct=EBI-17589229, EBI-2876502; Q6NTF9-3; Q07817: BCL2L1; NbExp=3; IntAct=EBI-17589229, EBI-78035; Q6NTF9-3; Q92843: BCL2L2; NbExp=3; IntAct=EBI-17589229, EBI-707714; Q6NTF9-3; Q9H5X1: CIAO2A; NbExp=3; IntAct=EBI-17589229, EBI-752069; Q6NTF9-3; Q9UHD4: CIDEB; NbExp=3; IntAct=EBI-17589229, EBI-7062247; Q6NTF9-3; P27658: COL8A1; NbExp=3; IntAct=EBI-17589229, EBI-747133; Q6NTF9-3; P21964: COMT; NbExp=3; IntAct=EBI-17589229, EBI-372265; Q6NTF9-3; Q9NR28: DIABLO; NbExp=3; IntAct=EBI-17589229, EBI-517508; Q6NTF9-3; Q6P2H7: DYNC1H1; NbExp=3; IntAct=EBI-17589229, EBI-17590191; Q6NTF9-3; Q14318: FKBP8; NbExp=3; IntAct=EBI-17589229, EBI-724839; Q6NTF9-3; P31512: FMO4; NbExp=3; IntAct=EBI-17589229, EBI-17589491; Q6NTF9-3; Q96A11: GAL3ST3; NbExp=3; IntAct=EBI-17589229, EBI-17590461; Q6NTF9-3; P23434: GCSH; NbExp=3; IntAct=EBI-17589229, EBI-715444; Q6NTF9-3; Q5U4N7: GDF5-AS1; NbExp=3; IntAct=EBI-17589229, EBI-17590774; Q6NTF9-3; Q9H8Y8: GORASP2; NbExp=3; IntAct=EBI-17589229, EBI-739467; Q6NTF9-3; P33778: H2BC3; NbExp=3; IntAct=EBI-17589229, EBI-357986; Q6NTF9-3; Q99525: H4C7; NbExp=3; IntAct=EBI-17589229, EBI-10294329; Q6NTF9-3; P04792: HSPB1; NbExp=3; IntAct=EBI-17589229, EBI-352682; Q6NTF9-3; Q96BM0: IFI27L1; NbExp=3; IntAct=EBI-17589229, EBI-17589287; Q6NTF9-3; P24001: IL32; NbExp=3; IntAct=EBI-17589229, EBI-2866752; Q6NTF9-3; O60333-2: KIF1B; NbExp=3; IntAct=EBI-17589229, EBI-10975473; Q6NTF9-3; Q6P1Q0: LETMD1; NbExp=3; IntAct=EBI-17589229, EBI-1549822; Q6NTF9-3; P27338: MAOB; NbExp=3; IntAct=EBI-17589229, EBI-3911344; Q6NTF9-3; Q5VZR4: MFSD14CP; NbExp=3; IntAct=EBI-17589229, EBI-2867865; Q6NTF9-3; Q5XKP0: MICOS13; NbExp=3; IntAct=EBI-17589229, EBI-1053887; Q6NTF9-3; Q96C03-3: MIEF2; NbExp=3; IntAct=EBI-17589229, EBI-11988931; Q6NTF9-3; Q9UH92-3: MLX; NbExp=3; IntAct=EBI-17589229, EBI-8852072; Q6NTF9-3; Q9H8L6: MMRN2; NbExp=3; IntAct=EBI-17589229, EBI-2623273; Q6NTF9-3; O95563: MPC2; NbExp=3; IntAct=EBI-17589229, EBI-719403; Q6NTF9-3; Q6IN84: MRM1; NbExp=3; IntAct=EBI-17589229, EBI-5454865; Q6NTF9-3; Q9NZE8-2: MRPL35; NbExp=3; IntAct=EBI-17589229, EBI-17590278; Q6NTF9-3; Q96E29: MTERF3; NbExp=3; IntAct=EBI-17589229, EBI-7825321; Q6NTF9-3; Q9HB07: MYG1; NbExp=3; IntAct=EBI-17589229, EBI-709754; Q6NTF9-3; Q9Y3Q0: NAALAD2; NbExp=3; IntAct=EBI-17589229, EBI-2863682; Q6NTF9-3; Q69YL0: NCBP2AS2; NbExp=3; IntAct=EBI-17589229, EBI-10986258; Q6NTF9-3; Q9ULP0-2: NDRG4; NbExp=3; IntAct=EBI-17589229, EBI-11978907; Q6NTF9-3; Q9UMS0: NFU1; NbExp=3; IntAct=EBI-17589229, EBI-725252; Q6NTF9-3; Q8IXM6: NRM; NbExp=3; IntAct=EBI-17589229, EBI-10262547; Q6NTF9-3; Q96AL5: PBX3; NbExp=3; IntAct=EBI-17589229, EBI-741171; Q6NTF9-3; P17612: PRKACA; NbExp=3; IntAct=EBI-17589229, EBI-476586; Q6NTF9-3; P54725: RAD23A; NbExp=3; IntAct=EBI-17589229, EBI-746453; Q6NTF9-3; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-17589229, EBI-396669; Q6NTF9-3; P60602: ROMO1; NbExp=3; IntAct=EBI-17589229, EBI-11909831; Q6NTF9-3; Q8WXG1: RSAD2; NbExp=3; IntAct=EBI-17589229, EBI-12736320; Q6NTF9-3; Q96QR1: SCGB3A1; NbExp=3; IntAct=EBI-17589229, EBI-9057632; Q6NTF9-3; O14521: SDHD; NbExp=3; IntAct=EBI-17589229, EBI-1224553; Q6NTF9-3; P50454: SERPINH1; NbExp=3; IntAct=EBI-17589229, EBI-350723; Q6NTF9-3; Q9BXI2: SLC25A2; NbExp=3; IntAct=EBI-17589229, EBI-17590310; Q6NTF9-3; Q00325-2: SLC25A3; NbExp=3; IntAct=EBI-17589229, EBI-5456178; Q6NTF9-3; O15079: SNPH; NbExp=3; IntAct=EBI-17589229, EBI-4401902; Q6NTF9-3; Q17RD7: SYT16; NbExp=3; IntAct=EBI-17589229, EBI-10238936; Q6NTF9-3; Q53QW1: TEX44; NbExp=3; IntAct=EBI-17589229, EBI-10278496; Q6NTF9-3; P37173: TGFBR2; NbExp=3; IntAct=EBI-17589229, EBI-296151; Q6NTF9-3; P07204: THBD; NbExp=3; IntAct=EBI-17589229, EBI-941422; Q6NTF9-3; O60830: TIMM17B; NbExp=3; IntAct=EBI-17589229, EBI-2372529; Q6NTF9-3; Q6ZUI0: TPRG1; NbExp=3; IntAct=EBI-17589229, EBI-17249488; Q6NTF9-3; Q2NL82: TSR1; NbExp=3; IntAct=EBI-17589229, EBI-358058; Q6NTF9-3; A0A384ME17: TUFM; NbExp=3; IntAct=EBI-17589229, EBI-12261790; Q6NTF9-3; Q05086-3: UBE3A; NbExp=3; IntAct=EBI-17589229, EBI-11026619; Q6NTF9-3; Q70CQ3: USP30; NbExp=3; IntAct=EBI-17589229, EBI-2512374; Q6NTF9-3; O76024: WFS1; NbExp=3; IntAct=EBI-17589229, EBI-720609; Golgi apparatus, cis-Golgi network membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q6NTF9-1; Sequence=Displayed; Name=2; IsoId=Q6NTF9-2; Sequence=VSP_055407; Name=3; IsoId=Q6NTF9-3; Sequence=VSP_055608; Belongs to the peptidase S54 family. Although strongly related to the peptidase S54 family, it lacks the conserved active sites, suggesting that it has no peptidase activity. Sequence=AAG09733.1; Type=Frameshift; Evidence=; Sequence=AAH06234.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Golgi membrane Hrd1p ubiquitin ligase ERAD-L complex serine-type endopeptidase activity nucleus nucleoplasm Golgi apparatus membrane integral component of membrane integral component of endoplasmic reticulum membrane ER-associated ubiquitin-dependent protein catabolic process endoplasmic reticulum unfolded protein response perinuclear region of cytoplasm misfolded protein binding ubiquitin-specific protease binding uc003udw.1 uc003udw.2 uc003udw.3 
ENST00000007264.7 RPUSD1 ENST00000007264.7 Homo sapiens RNA pseudouridine synthase domain containing 1 (RPUSD1), transcript variant 1, mRNA. (from RefSeq NM_058192) C16orf40 D3DU66 ENST00000007264.1 ENST00000007264.2 ENST00000007264.3 ENST00000007264.4 ENST00000007264.5 ENST00000007264.6 NM_058192 Q9UJJ7 RLUCL RUSD1_HUMAN uc002ckb.1 uc002ckb.2 uc002ckb.3 uc002ckb.4 Q9UJJ7; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-3922794, EBI-5235340; Belongs to the pseudouridine synthase RluA family. enzyme-directed rRNA pseudouridine synthesis pseudouridine synthesis molecular_function RNA binding cellular_component biological_process RNA modification pseudouridine synthase activity uc002ckb.1 uc002ckb.2 uc002ckb.3 uc002ckb.4 
ENST00000007390.3 TSR3 ENST00000007390.3 Homo sapiens TSR3 ribosome maturation factor (TSR3), mRNA. (from RefSeq NM_001001410) C16orf42 ENST00000007390.1 ENST00000007390.2 NM_001001410 Q6PJT8 Q9UJK0 TSR3 TSR3_HUMAN UND313L uc002cll.1 uc002cll.2 uc002cll.3 uc002cll.4 uc002cll.5 Aminocarboxypropyltransferase that catalyzes the aminocarboxypropyl transfer on pseudouridine at position 1248 (Psi1248) in 18S rRNA (Probable). It constitutes the last step in biosynthesis of the hypermodified N1-methyl-N3-(3-amino-3-carboxypropyl) pseudouridine (m1acp3-Psi) conserved in eukaryotic 18S rRNA (Probable). Reaction=N(1)-methylpseudouridine(1248) in human 18S rRNA + S-adenosyl- L-methionine = H(+) + N(1)-methyl-N(3)-[(3S)-3-amino-3- carboxypropyl]pseudouridine(1248) in human 18S rRNA + S-methyl-5'- thioadenosine; Xref=Rhea:RHEA:63292, Rhea:RHEA-COMP:11639, Rhea:RHEA- COMP:16308, ChEBI:CHEBI:15378, ChEBI:CHEBI:17509, ChEBI:CHEBI:59789, ChEBI:CHEBI:74890, ChEBI:CHEBI:146234; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:63293; Evidence= Cytoplasm Belongs to the TDD superfamily. TSR3 family. rRNA modification cytosol rRNA processing transferase activity maturation of SSU-rRNA ribosome biogenesis uc002cll.1 uc002cll.2 uc002cll.3 uc002cll.4 uc002cll.5 
ENST00000007414.8 OSBPL7 ENST00000007414.8 Homo sapiens oxysterol binding protein like 7 (OSBPL7), mRNA. (from RefSeq NM_145798) D3DTT6 ENST00000007414.1 ENST00000007414.2 ENST00000007414.3 ENST00000007414.4 ENST00000007414.5 ENST00000007414.6 ENST00000007414.7 NM_145798 ORP7 OSBL7_HUMAN Q6PIV6 Q9BZF2 uc002ilx.1 uc002ilx.2 uc002ilx.3 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding the same isoform have been identified. [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 :: BC065482.1, SRR1803617.33078.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000007414.8/ ENSP00000007414.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Cytoplasm, cytosol Endoplasmic reticulum membrane Cell membrane Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BZF2-1; Sequence=Displayed; Name=2; IsoId=Q9BZF2-2; Sequence=VSP_057227, VSP_057228; Expressed in epithelium of small and large intestines (at protein level). Expressed in stomach, duodenum, jejunum, ascending colon, spleen, thymus, lymph node, trachea and leukocytes. Expressed in fetal lung and thymus. Belongs to the OSBP family. protein binding cytoplasm autophagosome endoplasmic reticulum endoplasmic reticulum membrane cytosol plasma membrane bile acid biosynthetic process lipid transport lipid binding regulation of autophagy cholesterol binding membrane sterol binding intracellular membrane-bounded organelle cellular response to cholesterol perinuclear endoplasmic reticulum positive regulation of proteasomal protein catabolic process uc002ilx.1 uc002ilx.2 uc002ilx.3 
ENST00000007510.9 ARHGAP33 ENST00000007510.9 Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 3, mRNA. (from RefSeq NM_001366178) ENST00000007510.1 ENST00000007510.2 ENST00000007510.3 ENST00000007510.4 ENST00000007510.5 ENST00000007510.6 ENST00000007510.7 ENST00000007510.8 NM_001366178 O14552 O14559 O14560 Q6ZSP6 Q96CP3 Q9NT23 RHG33_HUMAN SNX26 TCGAP uc060xjg.1 uc060xjg.2 This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 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## RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2145743 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## inferred exon combination :: based on alignments, homology RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## May be involved in several stages of intracellular trafficking. Could play an important role in the regulation of glucose transport by insulin. May act as a downstream effector of RHOQ/TC10 in the regulation of insulin-stimulated glucose transport (By similarity). Specifically interacts with CDC42 and RHOQ/TC10 through its Rho-GAP domain (By similarity). Interacts with NEK6. O14559; P06241: FYN; NbExp=2; IntAct=EBI-1210010, EBI-515315; Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=O14559-1; Sequence=Displayed; Name=2; IsoId=O14559-10; Sequence=VSP_014287, VSP_014292; Name=3; IsoId=O14559-11; Sequence=VSP_014291; Name=4; IsoId=O14559-12; Sequence=VSP_014288, VSP_014289, VSP_014290; Belongs to the PX domain-containing GAP family. Sequence=AAB81198.1; Type=Erroneous gene model prediction; Evidence=; [Isoform 2]: Sequence=BAC86902.1; Type=Frameshift; Evidence=; GTPase activator activity protein binding cytoplasm cytosol plasma membrane signal transduction small GTPase mediated signal transduction response to toxic substance protein transport protein kinase binding macromolecular complex phosphatidylinositol binding dendritic spine positive regulation of GTPase activity regulation of small GTPase mediated signal transduction regulation of dendritic spine morphogenesis uc060xjg.1 uc060xjg.2 
ENST00000007516.8 NDUFAB1 ENST00000007516.8 Homo sapiens NADH:ubiquinone oxidoreductase subunit AB1 (NDUFAB1), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_005003) ACPM_HUMAN B2R4M1 ENST00000007516.1 ENST00000007516.2 ENST00000007516.3 ENST00000007516.4 ENST00000007516.5 ENST00000007516.6 ENST00000007516.7 NDUFAB1 NM_005003 O14561 Q9UNV1 uc002dlw.1 uc002dlw.2 uc002dlw.3 uc002dlw.4 uc002dlw.5 Carrier of the growing fatty acid chain in fatty acid biosynthesis (By similarity) (PubMed:27626371). Accessory and non- catalytic subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain (PubMed:27626371). Accessory protein, of the core iron-sulfur cluster (ISC) assembly complex, that regulates, in association with LYRM4, the stability and the cysteine desulfurase activity of NFS1 and participates in the [2Fe-2S] clusters assembly on the scaffolding protein ISCU (PubMed:31664822). 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). Mammalian complex I is composed of 45 different subunits (PubMed:12611891). Interacts with ETFRF1 (PubMed:27499296). Identified in a complex composed of MALSU1, MIEF1 upstream open reading frame protein and NDUFAB1; within the trimeric complex, MIEF1 upstream open reading frame protein functions as a bridging scaffold that interacts with MALSU1 on one side, and with NDUFAB1 on the other side. The complex interacts with the mitochondrial large ribosomal subunit (PubMed:28892042, PubMed:30215512). Interacts with alpha-1- microglobulin chain; this interaction is required for the maintenance of mitochondrial redox homeostasis. 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 (Probable). Component of the cyteine desulfurase complex composed of NFS1, LYRM4 and NDUFAB1; this complex contributes to the stability and cysteine desulfurase activity of NFS1 (PubMed:31664822). O14561; Q08043: ACTN3; NbExp=3; IntAct=EBI-1246261, EBI-2880652; O14561; Q96PG8: BBC3; NbExp=3; IntAct=EBI-1246261, EBI-17289784; O14561; Q5H9J7: BEX5; NbExp=3; IntAct=EBI-1246261, EBI-10243741; O14561; Q8N4L8: CCDC24; NbExp=3; IntAct=EBI-1246261, EBI-1104933; O14561; P26441: CNTF; NbExp=3; IntAct=EBI-1246261, EBI-1050897; O14561; Q9BSK4: FEM1A; NbExp=3; IntAct=EBI-1246261, EBI-2515349; O14561; Q13643: FHL3; NbExp=5; IntAct=EBI-1246261, EBI-741101; O14561; Q53EP0-3: FNDC3B; NbExp=5; IntAct=EBI-1246261, EBI-10242151; O14561; Q9BQA5: HINFP; NbExp=3; IntAct=EBI-1246261, EBI-749065; O14561; Q7L273: KCTD9; NbExp=3; IntAct=EBI-1246261, EBI-4397613; O14561; P25791-3: LMO2; NbExp=3; IntAct=EBI-1246261, EBI-11959475; O14561; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-1246261, EBI-739832; O14561; Q6PF18: MORN3; NbExp=3; IntAct=EBI-1246261, EBI-9675802; O14561; Q86UR1-2: NOXA1; NbExp=3; IntAct=EBI-1246261, EBI-12025760; O14561; Q16656-4: NRF1; NbExp=3; IntAct=EBI-1246261, EBI-11742836; O14561; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-1246261, EBI-741158; O14561; O43482: OIP5; NbExp=3; IntAct=EBI-1246261, EBI-536879; O14561; Q969H6: POP5; NbExp=3; IntAct=EBI-1246261, EBI-366525; O14561; Q96I34: PPP1R16A; NbExp=3; IntAct=EBI-1246261, EBI-710402; O14561; P17980: PSMC3; NbExp=6; IntAct=EBI-1246261, EBI-359720; O14561; Q9GZT3: SLIRP; NbExp=4; IntAct=EBI-1246261, EBI-1050793; O14561; Q9NVV9: THAP1; NbExp=3; IntAct=EBI-1246261, EBI-741515; O14561; O43711: TLX3; NbExp=5; IntAct=EBI-1246261, EBI-3939165; O14561; Q96NM4-3: TOX2; NbExp=3; IntAct=EBI-1246261, EBI-12815137; O14561; Q08AM6: VAC14; NbExp=3; IntAct=EBI-1246261, EBI-2107455; O14561; P17023: ZNF19; NbExp=3; IntAct=EBI-1246261, EBI-12884200; O14561; Q86VK4-3: ZNF410; NbExp=3; IntAct=EBI-1246261, EBI-11741890; O14561; Q3KNS6-3: ZNF829; NbExp=3; IntAct=EBI-1246261, EBI-18036029; Mitochondrion Phosphopantetheinylation at Ser-112 is essential for interactions with LYR motif-containing proteins. In contrast to other accessory subunits of complex I, NDUFAB1 is the only subunit that is essential for cell viability in HEK293T cells. Since knockout cells lack assembled complex I and die in galactose media, this suggests that the essential role of NDUFAB1 is independent of complex I. Belongs to the acyl carrier protein (ACP) family. Sequence=AAC05814.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; acyl binding ACP phosphopantetheine attachment site binding involved in fatty acid biosynthetic process fatty acid binding calcium ion binding protein binding nucleoplasm mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I mitochondrial matrix mitochondrial electron transport, NADH to ubiquinone lipid metabolic process fatty acid metabolic process fatty acid biosynthetic process NADH dehydrogenase (ubiquinone) activity protein lipoylation mitochondrial membrane mitochondrial respiratory chain complex I assembly oxidation-reduction process respiratory chain mitochondrial large ribosomal subunit uc002dlw.1 uc002dlw.2 uc002dlw.3 uc002dlw.4 uc002dlw.5 
ENST00000007699.10 YBX2 ENST00000007699.10 Homo sapiens Y-box binding protein 2 (YBX2), mRNA. (from RefSeq NM_015982) CSDA3 D3DTP1 ENST00000007699.1 ENST00000007699.2 ENST00000007699.3 ENST00000007699.4 ENST00000007699.5 ENST00000007699.6 ENST00000007699.7 ENST00000007699.8 ENST00000007699.9 MSY2 NM_015982 Q8N4P0 Q9Y2T7 YBOX2_HUMAN uc002gfq.1 uc002gfq.2 uc002gfq.3 uc002gfq.4 This gene encodes a nucleic acid binding protein which is highly expressed in germ cells. The encoded protein binds to a Y-box element in the promoters of certain genes but also binds to mRNA transcribed from these genes. Pseudogenes for this gene are located on chromosome 10 and 15. [provided by RefSeq, Feb 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 :: AF096834.1, BC033800.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000007699.10/ ENSP00000007699.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Major constituent of messenger ribonucleoprotein particles (mRNPs). Involved in the regulation of the stability and/or translation of germ cell mRNAs. Binds to Y-box consensus promoter element. Binds to full-length mRNA with high affinity in a sequence-independent manner. Binds to short RNA sequences containing the consensus site 5'-UCCAUCA- 3' with low affinity and limited sequence specificity. Its binding with maternal mRNAs is necessary for its cytoplasmic retention. May mark specific mRNAs (those transcribed from Y-box promoters) in the nucleus for cytoplasmic storage, thereby linking transcription and mRNA storage/translational delay (By similarity). Found in a mRNP complex with PABPC1 and YBX3. Found in a mRNP complex with ZAR1 and ZAR1L. Cytoplasm Nucleus Expressed in oocytes and testicular germ cells in the stage of spermatogonia to spermatocyte. Also observed placental trophoblasts, as well as in vascular smooth muscle cells in the pulmonary artery, myocardium, and skeletal muscle. Undetectable in epithelial cells in respiratory, gastrointestinal, and urogenital tracts. Up-regulated in various carcinomas and germ cell tumors (at protein level). Phosphorylated during oocyte maturation and dephosphorylated following egg activation. Phosphorylated in vitro by a kinase activity associated with testicular mRNPs. Dephosphorylation leads to a decrease in its affinity to bind RNA in vitro (By similarity). fibrillar center nucleic acid binding DNA binding RNA binding nucleus cytoplasm transcription from RNA polymerase II promoter spermatogenesis translational attenuation oocyte development uc002gfq.1 uc002gfq.2 uc002gfq.3 uc002gfq.4 
ENST00000007735.4 KRT33A ENST00000007735.4 Homo sapiens keratin 33A (KRT33A), mRNA. (from RefSeq NM_004138) B2RA87 ENST00000007735.1 ENST00000007735.2 ENST00000007735.3 HHA3-I HKA3A KRTHA3A KT33A_HUMAN NM_004138 O76009 Q6NTB9 Q6ZZB9 uc002hwk.1 uc002hwk.2 uc002hwk.3 uc002hwk.4 This gene encodes a member of the keratin gene family. This gene is one of multiple type I hair keratin genes that are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. As a type I hair keratin, the encoded protein is an acidic protein which heterodimerizes with type II keratins to form hair and nails. There are two isoforms of this protein, encoded by two separate genes, keratin 33A and keratin 33B. [provided by RefSeq, May 2012]. ##Evidence-Data-START## Transcript exon combination :: AJ633621.2, BC069135.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2148874 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000007735.4/ ENSP00000007735.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Expressed in the hair follicles. There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic). Belongs to the intermediate filament family. structural molecule activity extracellular space cytosol intermediate filament keratinization cornification uc002hwk.1 uc002hwk.2 uc002hwk.3 uc002hwk.4 
ENST00000008391.4 TFAP2D ENST00000008391.4 Homo sapiens transcription factor AP-2 delta (TFAP2D), mRNA. (from RefSeq NM_172238) AP2D_HUMAN ENST00000008391.1 ENST00000008391.2 ENST00000008391.3 NM_172238 Q7Z6R9 Q8IWX0 TFAP2BL1 TFAP2D uc003paf.1 uc003paf.2 uc003paf.3 uc003paf.4 uc003paf.5 Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC (By similarity). Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members (By similarity). Q7Z6R9; O43184-4: ADAM12; NbExp=3; IntAct=EBI-11952651, EBI-12006944; Q7Z6R9; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-11952651, EBI-10173507; Q7Z6R9; O95994: AGR2; NbExp=3; IntAct=EBI-11952651, EBI-712648; Q7Z6R9; Q9ULX6: AKAP8L; NbExp=3; IntAct=EBI-11952651, EBI-357530; Q7Z6R9; O95429: BAG4; NbExp=5; IntAct=EBI-11952651, EBI-2949658; Q7Z6R9; Q9UQM7: CAMK2A; NbExp=3; IntAct=EBI-11952651, EBI-1383687; Q7Z6R9; Q9BWT7: CARD10; NbExp=3; IntAct=EBI-11952651, EBI-3866279; Q7Z6R9; Q6NVV7: CDPF1; NbExp=3; IntAct=EBI-11952651, EBI-2802782; Q7Z6R9; Q8TAP6: CEP76; NbExp=3; IntAct=EBI-11952651, EBI-742887; Q7Z6R9; A8MTA8-2: CIMIP2B; NbExp=3; IntAct=EBI-11952651, EBI-12160437; Q7Z6R9; Q9BYD5: CNFN; NbExp=3; IntAct=EBI-11952651, EBI-12819063; Q7Z6R9; P67870: CSNK2B; NbExp=3; IntAct=EBI-11952651, EBI-348169; Q7Z6R9; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-11952651, EBI-3867333; Q7Z6R9; Q92567-2: FAM168A; NbExp=3; IntAct=EBI-11952651, EBI-11978259; Q7Z6R9; Q96NT3-2: GUCD1; NbExp=5; IntAct=EBI-11952651, EBI-11978177; Q7Z6R9; P13807: GYS1; NbExp=3; IntAct=EBI-11952651, EBI-740553; Q7Z6R9; P35452-2: HOXD12; NbExp=3; IntAct=EBI-11952651, EBI-17244356; Q7Z6R9; Q9UKT9: IKZF3; NbExp=3; IntAct=EBI-11952651, EBI-747204; Q7Z6R9; Q0VD86: INCA1; NbExp=5; IntAct=EBI-11952651, EBI-6509505; Q7Z6R9; Q9BS75: KLHL20; NbExp=3; IntAct=EBI-11952651, EBI-10693436; Q7Z6R9; Q5T749: KPRP; NbExp=3; IntAct=EBI-11952651, EBI-10981970; Q7Z6R9; Q15323: KRT31; NbExp=3; IntAct=EBI-11952651, EBI-948001; Q7Z6R9; O76011: KRT34; NbExp=3; IntAct=EBI-11952651, EBI-1047093; Q7Z6R9; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-11952651, EBI-11959885; Q7Z6R9; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-11952651, EBI-11749135; Q7Z6R9; P60409: KRTAP10-7; NbExp=5; IntAct=EBI-11952651, EBI-10172290; Q7Z6R9; P60410: KRTAP10-8; NbExp=5; IntAct=EBI-11952651, EBI-10171774; Q7Z6R9; Q8IUC1: KRTAP11-1; NbExp=3; IntAct=EBI-11952651, EBI-1052037; Q7Z6R9; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-11952651, EBI-11953334; Q7Z6R9; Q3LI76: KRTAP15-1; NbExp=3; IntAct=EBI-11952651, EBI-11992140; Q7Z6R9; Q3LHN2: KRTAP19-2; NbExp=3; IntAct=EBI-11952651, EBI-12196745; Q7Z6R9; Q3LI70: KRTAP19-6; NbExp=3; IntAct=EBI-11952651, EBI-12805508; Q7Z6R9; Q3SYF9: KRTAP19-7; NbExp=3; IntAct=EBI-11952651, EBI-10241353; Q7Z6R9; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-11952651, EBI-14065470; Q7Z6R9; Q6PEX3: KRTAP26-1; NbExp=3; IntAct=EBI-11952651, EBI-3957672; Q7Z6R9; Q3LI64: KRTAP6-1; NbExp=3; IntAct=EBI-11952651, EBI-12111050; Q7Z6R9; Q3LI66: KRTAP6-2; NbExp=5; IntAct=EBI-11952651, EBI-11962084; Q7Z6R9; Q8IUC3: KRTAP7-1; NbExp=3; IntAct=EBI-11952651, EBI-18394498; Q7Z6R9; Q9BYQ4: KRTAP9-2; NbExp=5; IntAct=EBI-11952651, EBI-1044640; Q7Z6R9; Q9BYQ3: KRTAP9-3; NbExp=3; IntAct=EBI-11952651, EBI-1043191; Q7Z6R9; P40692: MLH1; NbExp=5; IntAct=EBI-11952651, EBI-744248; Q7Z6R9; O43482: OIP5; NbExp=5; IntAct=EBI-11952651, EBI-536879; Q7Z6R9; P78337: PITX1; NbExp=3; IntAct=EBI-11952651, EBI-748265; Q7Z6R9; Q58EX7: PLEKHG4; NbExp=3; IntAct=EBI-11952651, EBI-949255; Q7Z6R9; P28070: PSMB4; NbExp=3; IntAct=EBI-11952651, EBI-603350; Q7Z6R9; Q9Y4B4: RAD54L2; NbExp=3; IntAct=EBI-11952651, EBI-948156; Q7Z6R9; O15304-2: SIVA1; NbExp=3; IntAct=EBI-11952651, EBI-12372219; Q7Z6R9; Q8ND83: SLAIN1; NbExp=3; IntAct=EBI-11952651, EBI-10269374; Q7Z6R9; Q96LM6: SPMIP9; NbExp=3; IntAct=EBI-11952651, EBI-743976; Q7Z6R9; O43609: SPRY1; NbExp=3; IntAct=EBI-11952651, EBI-3866665; Q7Z6R9; Q96N21: TEPSIN; NbExp=3; IntAct=EBI-11952651, EBI-11139477; Q7Z6R9; Q08117-2: TLE5; NbExp=5; IntAct=EBI-11952651, EBI-11741437; Q7Z6R9; Q63HR2: TNS2; NbExp=3; IntAct=EBI-11952651, EBI-949753; Q7Z6R9; Q13077: TRAF1; NbExp=3; IntAct=EBI-11952651, EBI-359224; Q7Z6R9; Q8IWZ5: TRIM42; NbExp=3; IntAct=EBI-11952651, EBI-5235829; Q7Z6R9; Q86WV8: TSC1; NbExp=3; IntAct=EBI-11952651, EBI-12806590; Q7Z6R9; Q70EL1-9: USP54; NbExp=3; IntAct=EBI-11952651, EBI-11975223; Q7Z6R9; A5D8V6: VPS37C; NbExp=3; IntAct=EBI-11952651, EBI-2559305; Q7Z6R9; A0A0C4DGF1: ZBTB32; NbExp=3; IntAct=EBI-11952651, EBI-10188476; Q7Z6R9; Q9H0C1: ZMYND12; NbExp=3; IntAct=EBI-11952651, EBI-12030590; Nucleus Highly expressed in brain, placenta, skeletal muscle, thymus, small intestine, and prostate, and expressed at lower levels in leukocyte, spleen, testis, ovary and colon. Barely detectable in heart, kidney, liver, lung or pancreas. Belongs to the AP-2 family. Name=Wikipedia; Note=Activating protein 2 entry; URL="https://en.wikipedia.org/wiki/Activating_protein_2"; nuclear chromatin RNA polymerase II regulatory 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 transcription factor complex regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter negative regulation of neuron apoptotic process positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter inferior colliculus development uc003paf.1 uc003paf.2 uc003paf.3 uc003paf.4 uc003paf.5 
ENST00000008527.10 CRY1 ENST00000008527.10 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. Represses the CLOCK-BMAL1 induced transcription of ATF4, MTA1, KLF10 and NAMPT (By similarity). 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 (By similarity). 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 (By similarity). Represses PPARD and its target genes in the skeletal muscle and limits exercise capacity (By similarity). Plays an essential role in the generation of circadian rhythms in the retina (By similarity). Represses the transcriptional activity of NR1I2 (By similarity). (from UniProt Q16526) CRY1_HUMAN ENST00000008527.1 ENST00000008527.2 ENST00000008527.3 ENST00000008527.4 ENST00000008527.5 ENST00000008527.6 ENST00000008527.7 ENST00000008527.8 ENST00000008527.9 NR_182153 PHLL1 Q16526 uc001tmi.1 uc001tmi.2 uc001tmi.3 uc001tmi.4 uc001tmi.5 uc001tmi.6 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. Represses the CLOCK-BMAL1 induced transcription of ATF4, MTA1, KLF10 and NAMPT (By similarity). 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 (By similarity). 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 (By similarity). Represses PPARD and its target genes in the skeletal muscle and limits exercise capacity (By similarity). Plays an essential role in the generation of circadian rhythms in the retina (By similarity). Represses the transcriptional activity of NR1I2 (By similarity). 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; 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. 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 (By similarity). Interacts directly with TIMELESS (By similarity). Interacts directly with PER1 and PER3 (By similarity). Interacts directly with PER2; interaction with PER2 inhibits its ubiquitination and vice versa (PubMed:21613214). Interacts with FBXL21 (By similarity). Interacts with FBXL3 (PubMed:17463251). Interacts with PPP5C (via TPR repeats) (PubMed:16790549). Interacts with CLOCK-BMAL1 independently of PER2 and DNA (PubMed:28388406). Interacts with HDAC1, HDAC2 and SIN3B. Interacts with nuclear receptors AR, NR1D1, NR3C1/GR, RORA and RORC; the interaction with at least NR3C1/GR is ligand dependent (PubMed:22170608). Interacts with PRKDC (By similarity). Interacts with the G protein subunit alpha GNAS; the interaction may block GPCR-mediated regulation of cAMP concentrations (PubMed:20852621). Interacts with PRMT5 (PubMed:23133559). Interacts with EZH2 (By similarity). Interacts with MYBBP1A, DOCK7, HNRNPU, RPL7A, RPL8 and RPS3 (By similarity). Interacts with MAP1LC3B (By similarity). Interacts with CLOCK (By similarity). Interacts with BMAL1 (By similarity). Interacts weakly with HDAC3; this interaction is enhanced in the presence of FBXL3 (By similarity). Interacts with TRIM28, KCTD5 and DDB1 (By similarity). Interacts with FOXO1 (By similarity). Interacts with DTL and DDB1-CUL4A complex (PubMed:26431207). Interacts with HNF4A (PubMed:30530698). Interacts with PSMD2 in a KDM8-dependent manner (By similarity). Interacts with KDM8 in a FBXL3-dependent manner (By similarity). Interacts with PPARG in a ligand-dependent manner (By similarity). Interacts with PPARD (via domain NR LBD) and NR1I2 (via domain NR LBD) in a ligand-dependent manner (By similarity). Interacts with PPARA, NR1I3 and VDR (By similarity). Q16526; O14744: PRMT5; NbExp=3; IntAct=EBI-741297, EBI-351098; Cytoplasm. Nucleus Note=Translocated to the nucleus through interaction with other clock proteins such as PER2 or BMAL1. Expression is regulated by light and circadian rhythms and osicllates diurnally. Peak expression in the suprachiasma nucleus (SCN) and eye at the day/night transition (CT12). Levels decrease with BMAL1- CLOCK inhibition as part of the autoregulatory feedback loop. 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-568 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 (PubMed:17463251, PubMed:22798407, PubMed:27565346). Deubiquitinated by USP7 (By similarity). 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. Delayed sleep phase syndrome (DSPS) [MIM:614163]: A circadian rhythm sleep disorder characterized by sleep-onset insomnia and difficulty in awakening at the desired time. Patients with DSPS have chronic difficulty in adjusting their sleep-onset and wake-up times to occupational, school, and social activities. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. An adenine-to-cytosine transversion within the 5'splice site following exon 11 has been found in multiple members of a DSPD family and segregates with the disorder with autosomal dominant inheritance pattern. This variant is predicted to cause exon 11 skipping and in- frame deletion of 24 residues in the C-terminal region of CRY1. Functional studies show that the mutated protein acts as a more potent transcriptional repressor than wild-type, causes reduced expression of key transcriptional targets and lengthens the period of circadian molecular rhythms. Belongs to the DNA photolyase class-1 family. Name=Wikipedia; Note=Cryptochrome entry; URL="https://en.wikipedia.org/wiki/Cryptochrome"; negative regulation of transcription from RNA polymerase II promoter nucleotide binding DNA binding double-stranded DNA binding protein binding nucleus cytoplasm mitochondrion gluconeogenesis DNA damage induced protein phosphorylation circadian rhythm transcription factor binding response to light stimulus blue light signaling pathway photoreceptor activity blue light 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 deoxyribodipyrimidine photo-lyase activity DNA (6-4) photolyase activity uc001tmi.1 uc001tmi.2 uc001tmi.3 uc001tmi.4 uc001tmi.5 uc001tmi.6 
ENST00000008938.5 PGLYRP1 ENST00000008938.5 Homo sapiens peptidoglycan recognition protein 1 (PGLYRP1), mRNA. (from RefSeq NM_005091) ENST00000008938.1 ENST00000008938.2 ENST00000008938.3 ENST00000008938.4 NM_005091 O75594 PGLYRP PGRP PGRP1_HUMAN Q4VB36 SBBI68 TNFSF3L UNQ639/PRO1269 uc002pdx.1 uc002pdx.2 uc002pdx.3 uc002pdx.4 uc002pdx.5 Innate immunity protein that plays several important functions in antimicrobial and antitumor defense systems. Acts as a pattern receptor that binds to murein peptidoglycans (PGN) of Gram- positive bacteria and thus provides bactericidal activity (PubMed:9707603). Forms an equimolar complex with heat shock protein HSPA1A and induces programmed cell death through apoptosis and necroptosis in tumor cell lines by activating the TNFR1 receptor on the target cell membrane (PubMed:21247889, PubMed:26183779). In addition, acts in complex with the Ca(2+)-binding protein S100A4 as a chemoattractant able to induce lymphocyte movement (PubMed:26654597). Mechanistically, this complex acts as a ligand of the chemotactic receptors CCR5 and CXCR3 which are present on the cells of the immune system (PubMed:30713770). Promotes also the activation of lymphocytes that become able to kill virus-infected cells as well as tumor cells by modulating the spectrum of their target-cell specificity (PubMed:29083508, PubMed:28977785). Induction of cytotoxicity on monocyte surface requires interaction with TREM1 receptor (PubMed:28977785, PubMed:25595774). Homodimer; disulfide-linked (PubMed:16354652, PubMed:15769462). Interacts with HSPA1A; this interaction forms a cytotoxic complex that is released by lymphokine-activated killer cells (By similarity). Interacts with HSPBP1; this interaction blocks the cytotoxic activity of the PGLYRP1-HSPA1A complex (PubMed:21247889). Interacts with TNFRSF1A; this interaction is important for cell death induction (PubMed:26183779). Interacts with S100A4; this complex acts as a chemoattractant that promotes lymphocyte movement (PubMed:26654597, PubMed:30713770). Interacts with TREM1 (PubMed:25595774). Secreted Cytoplasmic granule Highly expressed in bone marrow. Weak expression found in kidney, liver, small intestine, spleen, thymus, peripheral leukocyte, lung, fetal spleen and neutrophils. N-glycosylated. N-glycosylation is required for bactericidal activity. Belongs to the N-acetylmuramoyl-L-alanine amidase 2 family. pattern recognition receptor signaling pathway immune system process extracellular region extracellular space zinc ion binding N-acetylmuramoyl-L-alanine amidase activity peptidoglycan catabolic process response to bacterium peptidoglycan receptor activity detection of bacterium antimicrobial humoral response killing of cells of other organism negative regulation of interferon-gamma production negative regulation of natural killer cell differentiation involved in immune response specific granule lumen defense response to bacterium peptidoglycan binding neutrophil degranulation growth of symbiont in host innate immune response negative regulation of inflammatory response defense response to Gram-positive bacterium positive regulation of cytolysis in other organism extracellular exosome phagocytic vesicle lumen tertiary granule lumen uc002pdx.1 uc002pdx.2 uc002pdx.3 uc002pdx.4 uc002pdx.5 
ENST00000009041.12 STARD3NL ENST00000009041.12 Homo sapiens STARD3 N-terminal like (STARD3NL), transcript variant 1, mRNA. (from RefSeq NM_032016) A4D1X0 ENST00000009041.1 ENST00000009041.10 ENST00000009041.11 ENST00000009041.2 ENST00000009041.3 ENST00000009041.4 ENST00000009041.5 ENST00000009041.6 ENST00000009041.7 ENST00000009041.8 ENST00000009041.9 MENTHO NM_032016 O95772 STARD3NL STR3N_HUMAN UNQ855/PRO1864 uc003tfr.1 uc003tfr.2 uc003tfr.3 uc003tfr.4 uc003tfr.5 This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011]. 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 :: SRR1660807.259540.1, SRR1803613.194392.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Tethering protein that creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB (PubMed:24105263). Homodimer (PubMed:16709157). Interacts (via the MENTAL domain) with STARD3NL (PubMed:16709157). Interacts (via FFAT motif) with VAPA. Interacts (via FFAT motif) with VAPB (PubMed:24105263). Interacts (via FFAT motif) with MOSPD2 (via MSP domain) (PubMed:29858488). O95772; Q9UBK5: HCST; NbExp=3; IntAct=EBI-3916943, EBI-2801937; O95772; Q8NHP6: MOSPD2; NbExp=5; IntAct=EBI-3916943, EBI-2812848; 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. Event=Alternative initiation; Named isoforms=2; Name=1; IsoId=O95772-1; Sequence=Displayed; Name=2; IsoId=O95772-2; Sequence=VSP_018819; The FFAT motif mediates interaction with VAPA, VAPB and MOSPD2. The MENTAL domain anchors the protein in endosome membranes and exposes the START domain in the cytosol (By similarity). It binds cholesterol and mediates homotypic as well as heterotypic interactions between STARD3 and STARD3NL (PubMed:15718238, PubMed:16709157). Belongs to the STARD3 family. protein binding lysosomal membrane endosome cytosol C21-steroid hormone biosynthetic process cholesterol binding membrane integral component of membrane late endosome membrane protein homodimerization activity intracellular membrane-bounded organelle organelle membrane contact site vesicle tethering to endoplasmic reticulum endoplasmic reticulum membrane uc003tfr.1 uc003tfr.2 uc003tfr.3 uc003tfr.4 uc003tfr.5 
ENST00000009180.10 CD9 ENST00000009180.10 Homo sapiens CD9 molecule (CD9), transcript variant 1, mRNA. (from RefSeq NM_001769) CD9 CD9_HUMAN D3DUQ9 ENST00000009180.1 ENST00000009180.2 ENST00000009180.3 ENST00000009180.4 ENST00000009180.5 ENST00000009180.6 ENST00000009180.7 ENST00000009180.8 ENST00000009180.9 GIG2 MIC3 NM_001769 P21926 Q5J7W6 Q96ES4 TSPAN29 uc285jyt.1 uc285jyt.2 This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded protein functions in many cellular processes including differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 2011]. Integral membrane protein associated with integrins, which regulates different processes, such as sperm-egg fusion, platelet activation and aggregation, and cell adhesion (PubMed:8478605, PubMed:14575715, PubMed:18541721). Present at the cell surface of oocytes and plays a key role in sperm-egg fusion, possibly by organizing multiprotein complexes and the morphology of the membrane required for the fusion (By similarity). In myoblasts, associates with CD81 and PTGFRN and inhibits myotube fusion during muscle regeneration (By similarity). In macrophages, associates with CD81 and beta-1 and beta-2 integrins, and prevents macrophage fusion into multinucleated giant cells specialized in ingesting complement-opsonized large particles (PubMed:12796480). Also prevents the fusion between mononuclear cell progenitors into osteoclasts in charge of bone resorption (By similarity). Acts as a receptor for PSG17 (By similarity). Involved in platelet activation and aggregation (PubMed:18541721). Regulates paranodal junction formation (By similarity). Involved in cell adhesion, cell motility and tumor metastasis (PubMed:8478605, PubMed:7511626). Forms both disulfide-linked homodimers and higher homooligomers as well as heterooligomers with other members of the tetraspanin family (PubMed:14556650). Interacts (via the second extracellular domain) with integrin ITGAV:ITGB3 (PubMed:19640571, PubMed:27993971). Interacts with integrin ITGA6:ITGB1; interaction takes place in oocytes and is involved in sperm-egg fusion (By similarity). Part of integrin-tetraspanin complexes composed of CD81, beta-1 and beta-2 integrins in the membrane of monocyte/macrophages (PubMed:12796480). Interacts with CD63; identified in a complex with CD63 and ITGB3 (PubMed:19640571). Associates with CR2/CD21 and with PTGFRN/CD9P1 (PubMed:11278880). Part of a complex composed of CD9, CD81, PTGFRN and IGSF8 (By similarity). Interacts directly with IGSF8 (PubMed:11504738). Interacts with PDPN; this interaction is homophilic and attenuates platelet aggregation and pulmonary metastasis induced by PDPN (PubMed:18541721). Interacts (on T cell side) with CD81 at immunological synapses between antigen-presenting cells and T cells (PubMed:23858057). P21926; O14672: ADAM10; NbExp=17; IntAct=EBI-4280101, EBI-1536151; P21926; P08473: MME; NbExp=6; IntAct=EBI-4280101, EBI-353759; P21926; Q2M2E3: ODF4; NbExp=3; IntAct=EBI-4280101, EBI-12382569; P21926; Q9P2B2: PTGFRN; NbExp=10; IntAct=EBI-4280101, EBI-4290465; Cell membrane ; Multi-pass membrane protein Membrane ; Multi-pass membrane protein Secreted, extracellular exosome Note=Present at the cell surface of oocytes. Accumulates in the adhesion area between the sperm and egg following interaction between IZUMO1 and its receptor IZUMO1R/JUNO. Detected in platelets (at protein level) (PubMed:19640571). Expressed by a variety of hematopoietic and epithelial cells (PubMed:19640571). Palmitoylated at a low, basal level in unstimulated platelets. The level of palmitoylation increases when platelets are activated by thrombin (in vitro). The protein exists in three forms with molecular masses between 22 and 27 kDa, and is known to carry covalently linked fatty acids (PubMed:11959120). Palmitoylation by ZDHHC2 regulates CD9 expression, association with other tetraspanin family proteins and function in cell adhesion (PubMed:18508921). Belongs to the tetraspanin (TM4SF) family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cd9/"; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/995/CD9"; platelet degranulation integrin binding protein binding extracellular region extracellular space plasma membrane integral component of plasma membrane focal adhesion cell adhesion single fertilization fusion of sperm to egg plasma membrane brain development negative regulation of cell proliferation response to water deprivation external side of plasma membrane cell surface oligodendrocyte development myoblast fusion involved in skeletal muscle regeneration membrane integral component of membrane apical plasma membrane platelet activation endocytic vesicle membrane clathrin-coated endocytic vesicle membrane paranodal junction assembly platelet alpha granule membrane receptor internalization macromolecular complex sperm-egg recognition negative regulation of cellular component movement extracellular exosome cellular response to low-density lipoprotein particle stimulus negative regulation of platelet aggregation extracellular vesicle regulation of macrophage migration uc285jyt.1 uc285jyt.2 
ENST00000009530.13 CD74 ENST00000009530.13 Homo sapiens CD74 molecule (CD74), transcript variant 1, mRNA. (from RefSeq NM_001025159) A8K7R1 B4DNE8 CD74 D3DQG3 D3DQG4 DHLAG ENST00000009530.1 ENST00000009530.10 ENST00000009530.11 ENST00000009530.12 ENST00000009530.2 ENST00000009530.3 ENST00000009530.4 ENST00000009530.5 ENST00000009530.6 ENST00000009530.7 ENST00000009530.8 ENST00000009530.9 HG2A_HUMAN NM_001025159 P04233 Q14597 Q29832 Q5U0J8 Q8SNA0 Q8WLP6 uc003lsc.1 uc003lsc.2 uc003lsc.3 uc003lsc.4 uc003lsc.5 uc003lsc.6 The protein encoded by this gene associates with class II major histocompatibility complex (MHC) and is an important chaperone that regulates antigen presentation for immune response. It also serves as cell surface receptor for the cytokine macrophage migration inhibitory factor (MIF) which, when bound to the encoded protein, initiates survival pathways and cell proliferation. This protein also interacts with amyloid precursor protein (APP) and suppresses the production of amyloid beta (Abeta). Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]. Plays a critical role in MHC class II antigen processing by stabilizing peptide-free class II alpha/beta heterodimers in a complex soon after their synthesis and directing transport of the complex from the endoplasmic reticulum to the endosomal/lysosomal system where the antigen processing and binding of antigenic peptides to MHC class II takes place. Serves as cell surface receptor for the cytokine MIF. [Class-II-associated invariant chain peptide]: Binds to the peptide-binding site of MHC class II alpha/beta heterodimers forming an alpha-beta-CLIP complex, thereby preventing the loading of antigenic peptides to the MHC class II complex until its release by HLA-DM in the endosome. [Isoform p41]: Stabilizes the conformation of mature CTSL by binding to its active site and serving as a chaperone to help maintain a pool of mature enzyme in endocytic compartments and extracellular space of antigen-presenting cells (APCs). Has antiviral activity by stymieing the endosomal entry of Ebola virus and coronaviruses, including SARS-CoV-2 (PubMed:32855215). Disrupts cathepsin-mediated Ebola virus glycoprotein processing, which prevents viral fusion and entry. This antiviral activity is specific to p41 isoform (PubMed:32855215). Homotrimer. In the endoplasmic reticulum (ER) it forms a heterononameric MHC II-Ii complex: 3 MHC class II molecules (heterodimers of an alpha and a beta subunit) bind to the CD74 homotrimer (also known as invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system, the CD74 component undergoes sequential degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP (class-II-associated invariant chain peptide) attached to the MHC class II molecule (alpha-beta-CLIP complex). This processed complex interacts with HLA_DM and HLA_DO heterodimers in order to release CLIP and facilitate the binding of antigenic peptides to the MHC class II molecules. Interacts with CD44; this complex is essential for the MIF- induced signaling cascade that results in B cell survival. [Isoform p41]: Interacts with the mature form of CTSL; the complex survive in neutral pH environment. P04233; P16070: CD44; NbExp=9; IntAct=EBI-2622890, EBI-490245; P04233; P25025: CXCR2; NbExp=2; IntAct=EBI-2622890, EBI-2835281; P04233; P61073: CXCR4; NbExp=4; IntAct=EBI-2622890, EBI-489411; P04233; P60228: EIF3E; NbExp=2; IntAct=EBI-2622890, EBI-347740; P04233; Q14974: KPNB1; NbExp=2; IntAct=EBI-2622890, EBI-286758; P04233; P0A6Y8: dnaK; Xeno; NbExp=8; IntAct=EBI-2622890, EBI-542092; P04233-2; O15155: BET1; NbExp=3; IntAct=EBI-12222807, EBI-749204; P04233-2; Q8N6F1-2: CLDN19; NbExp=3; IntAct=EBI-12222807, EBI-12256978; P04233-2; Q9BXN2-6: CLEC7A; NbExp=3; IntAct=EBI-12222807, EBI-11989440; P04233-2; Q96FZ5: CMTM7; NbExp=3; IntAct=EBI-12222807, EBI-2807956; P04233-2; P56851: EDDM3B; NbExp=3; IntAct=EBI-12222807, EBI-10215665; P04233-2; Q9UKR5: ERG28; NbExp=3; IntAct=EBI-12222807, EBI-711490; P04233-2; P37268: FDFT1; NbExp=3; IntAct=EBI-12222807, EBI-714550; P04233-2; Q9H0Q3: FXYD6; NbExp=3; IntAct=EBI-12222807, EBI-713304; P04233-2; Q9UBY5: LPAR3; NbExp=4; IntAct=EBI-12222807, EBI-12033434; P04233-2; Q8N912: NRAC; NbExp=4; IntAct=EBI-12222807, EBI-12051377; P04233-2; P0DJD7: PGA4; NbExp=3; IntAct=EBI-12222807, EBI-12957629; P04233-2; P60201-2: PLP1; NbExp=3; IntAct=EBI-12222807, EBI-12188331; P04233-2; Q5VZY2: PLPP4; NbExp=3; IntAct=EBI-12222807, EBI-10485931; P04233-2; Q8WZA1: POMGNT1; NbExp=3; IntAct=EBI-12222807, EBI-3912424; P04233-2; Q13635-3: PTCH1; NbExp=3; IntAct=EBI-12222807, EBI-14199621; P04233-2; Q5QGT7: RTP2; NbExp=3; IntAct=EBI-12222807, EBI-10244780; P04233-2; Q96IW7: SEC22A; NbExp=3; IntAct=EBI-12222807, EBI-8652744; P04233-2; Q9Y6X1: SERP1; NbExp=3; IntAct=EBI-12222807, EBI-10329948; P04233-2; P78383: SLC35B1; NbExp=3; IntAct=EBI-12222807, EBI-12147661; P04233-2; B2RUZ4: SMIM1; NbExp=3; IntAct=EBI-12222807, EBI-12188413; P04233-2; Q8IYF3-3: TEX11; NbExp=3; IntAct=EBI-12222807, EBI-11523345; P04233-2; A0PK00: TMEM120B; NbExp=3; IntAct=EBI-12222807, EBI-10171534; P04233-2; Q9BU79: TMEM243; NbExp=3; IntAct=EBI-12222807, EBI-12887458; P04233-2; Q8TBM7: TMEM254; NbExp=3; IntAct=EBI-12222807, EBI-11956809; P04233-2; Q9H2L4: TMEM60; NbExp=3; IntAct=EBI-12222807, EBI-2852148; P04233-2; Q5BJF2: TMEM97; NbExp=3; IntAct=EBI-12222807, EBI-12111910; P04233-2; O00526: UPK2; NbExp=4; IntAct=EBI-12222807, EBI-10179682; Cell membrane ; Single-pass type II membrane protein Endoplasmic reticulum membrane. Golgi apparatus, trans-Golgi network. Endosome. Lysosome. Secreted te=Transits through a number of intracellular compartments in the endocytic pathway. It can either undergo proteolysis or reach the cell membrane. [Isoform p41]: Late endosome Lysosome Event=Alternative splicing, Alternative initiation; Named isoforms=5; Name=p45 ; Synonyms=Long; IsoId=P04233-1; Sequence=Displayed; Name=p35 ; Synonyms=Short; IsoId=P04233-2; Sequence=VSP_005331; Name=3; IsoId=P04233-3; Sequence=VSP_037869, VSP_037870; Name=p41 ; IsoId=P04233-4; Sequence=VSP_060904; Name=p33 ; IsoId=P04233-5; Sequence=VSP_060904, VSP_005331; Detected in urine (at protein level). [Isoform p41]: In B cells, represents 10% of total CD74 expression. [Isoform p33]: In B cells, represents 70% of total CD74 expression. Antiviral activity requires delivery of the thyroglobulin domain to the endosomal membrane. O-glycosylated with core 1 or possibly core 8 glycans (PubMed:22171320, PubMed:23234360). Contains chondroitin sulfate (PubMed:25326458). Note=A chromosomal aberration involving CD74 is found in a non-small cell lung tumor. Results in the formation of a CD74-ROS1 chimeric protein. Sequence=AAA36304.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Golgi membrane activation of MAPK activity prostaglandin biosynthetic process beta-amyloid binding positive regulation of protein phosphorylation positive regulation of cytokine-mediated signaling pathway adaptive immune response immune system process positive regulation of dendritic cell antigen processing and presentation negative regulation of peptide secretion positive regulation of type 2 immune response negative regulation of mature B cell apoptotic process cytokine receptor activity protein binding nucleus cytoplasm lysosome lysosomal membrane endosome late endosome multivesicular body vacuole endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus plasma membrane intracellular protein transport defense response immune response signal transduction cell proliferation external side of plasma membrane cell surface positive regulation of gene expression ER to Golgi transport vesicle membrane membrane integral component of membrane immunoglobulin mediated immune response antigen processing and presentation antigen processing and presentation of endogenous antigen antigen processing and presentation of exogenous peptide antigen via MHC class II cytokine binding MHC class II protein complex binding negative regulation of cell migration transport vesicle membrane endocytic vesicle membrane clathrin-coated endocytic vesicle membrane positive regulation of B cell proliferation positive regulation of prostaglandin biosynthetic process trans-Golgi network membrane macromolecular complex positive regulation of kinase activity macrophage migration inhibitory factor signaling pathway macrophage migration inhibitory factor receptor complex NOS2-CD74 complex macrophage migration inhibitory factor binding MHC class II protein binding CD4 receptor binding MHC class II protein complex MHC class II protein binding, via antigen binding groove identical protein binding regulation of macrophage activation negative regulation of apoptotic process positive regulation of I-kappaB kinase/NF-kappaB signaling lysosomal lumen positive regulation of MAPK cascade negative regulation of DNA damage response, signal transduction by p53 class mediator protein binding involved in protein folding T cell selection positive thymic T cell selection negative thymic T cell selection positive regulation of chemokine biosynthetic process positive regulation of interleukin-6 biosynthetic process positive regulation of interleukin-8 biosynthetic process negative regulation of T cell differentiation positive regulation of T cell differentiation positive regulation of monocyte differentiation positive regulation of transcription, DNA-templated positive regulation of viral entry into host cell positive regulation of fibroblast proliferation positive regulation of peptidyl-tyrosine phosphorylation leukocyte migration nitric-oxide synthase binding chaperone mediated protein folding requiring cofactor protein heterotetramerization positive regulation of macrophage cytokine production macromolecular complex assembly extracellular exosome protein trimerization positive regulation of ERK1 and ERK2 cascade integral component of lumenal side of endoplasmic reticulum membrane positive regulation of neutrophil chemotaxis negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator positive regulation of chemokine (C-X-C motif) ligand 2 production positive regulation of macrophage migration inhibitory factor signaling pathway uc003lsc.1 uc003lsc.2 uc003lsc.3 uc003lsc.4 uc003lsc.5 uc003lsc.6 
ENST00000009589.8 RPS20 ENST00000009589.8 Homo sapiens ribosomal protein S20 (RPS20), transcript variant 2, mRNA. (from RefSeq NM_001023) B2R4F4 B4DW28 ENST00000009589.1 ENST00000009589.2 ENST00000009589.3 ENST00000009589.4 ENST00000009589.5 ENST00000009589.6 ENST00000009589.7 NM_001023 P17075 P60866 Q5M8S9 RS20_HUMAN uc003xsn.1 uc003xsn.2 uc003xsn.3 uc003xsn.4 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2009]. Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). Component of the 40S small ribosomal subunit. P60866; Q5S007: LRRK2; NbExp=4; IntAct=EBI-353105, EBI-5323863; P60866; Q15843: NEDD8; NbExp=3; IntAct=EBI-353105, EBI-716247; P60866; P36578: RPL4; NbExp=4; IntAct=EBI-353105, EBI-348313; P60866; Q6S8E0: ORF9b; Xeno; NbExp=2; IntAct=EBI-353105, EBI-25489144; Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P60866-1; Sequence=Displayed; Name=2; IsoId=P60866-2; Sequence=VSP_042724; Polyubiquitinated by ZNF598 via 'Lys-63'-linked ubiquitin chains when a ribosome has stalled, initiating the ribosome quality control (RQC) pathway to degrade the potentially detrimental aberrant nascent polypeptide (PubMed:28065601, PubMed:28132843, PubMed:28685749, PubMed:32011234, PubMed:36302773). Deubiquitinated by OTUD3 and USP21, antagonizing ZNF598 activity (PubMed:32011234). Ufmylated by UFL1. Belongs to the universal ribosomal protein uS10 family. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay RNA binding structural constituent of ribosome protein binding nucleoplasm cytoplasm cytosol ribosome translation translational initiation SRP-dependent cotranslational protein targeting to membrane small ribosomal subunit membrane viral transcription cytosolic small ribosomal subunit extracellular exosome uc003xsn.1 uc003xsn.2 uc003xsn.3 uc003xsn.4 
ENST00000011292.8 CPA1 ENST00000011292.8 Homo sapiens carboxypeptidase A1 (CPA1), mRNA. (from RefSeq NM_001868) A4D1M1 CBPA1_HUMAN CPA CPA1 ENST00000011292.1 ENST00000011292.2 ENST00000011292.3 ENST00000011292.4 ENST00000011292.5 ENST00000011292.6 ENST00000011292.7 NM_001868 P15085 Q53XU0 Q9BS67 Q9UCF2 uc003vpx.1 uc003vpx.2 uc003vpx.3 uc003vpx.4 uc003vpx.5 This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino acids from dietary proteins. This gene and several family members are present in a gene cluster on chromosome 7. Mutations in this gene may be linked to chronic pancreatitis, while elevated protein levels may be associated with pancreatic cancer. [provided by RefSeq, Jan 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 :: AK291493.1, BT007313.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000011292.8/ ENSP00000011292.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Carboxypeptidase that catalyzes the release of a C-terminal amino acid, but has little or no action with -Asp, -Glu, -Arg, -Lys or -Pro (PubMed:8806703). Catalyzes the conversion of leukotriene C4 to leukotriene F4 via the hydrolysis of an amide bond (By similarity). Reaction=Release of a C-terminal amino acid, but little or no action with -Asp, -Glu, -Arg, -Lys or -Pro.; EC=3.4.17.1; Evidence=; Reaction=H2O + leukotriene C4 = glycine + leukotriene F4; Xref=Rhea:RHEA:50740, ChEBI:CHEBI:15377, ChEBI:CHEBI:57305, ChEBI:CHEBI:57973, ChEBI:CHEBI:133618; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:50741; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. ; Monomer. May form a complex with proelastase 2. P15085; P19399; Xeno; NbExp=2; IntAct=EBI-1642148, EBI-15754788; Secreted. Belongs to the peptidase M14 family. carboxypeptidase activity metallocarboxypeptidase activity protein binding extracellular region extracellular space proteolysis peptidase activity metallopeptidase activity exopeptidase activity zinc ion binding hydrolase activity metal ion binding uc003vpx.1 uc003vpx.2 uc003vpx.3 uc003vpx.4 uc003vpx.5 
ENST00000011619.6 RANBP9 ENST00000011619.6 Homo sapiens RAN binding protein 9 (RANBP9), mRNA. (from RefSeq NM_005493) A0PJA2 B2R8E1 ENST00000011619.1 ENST00000011619.2 ENST00000011619.3 ENST00000011619.4 ENST00000011619.5 NM_005493 O94764 Q6P3T7 Q7LBR2 Q7Z7F9 Q96S59 RANB9_HUMAN RANBPM uc003nbb.1 uc003nbb.2 uc003nbb.3 uc003nbb.4 This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [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 :: AF306510.1, BC052781.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000011619.6/ ENSP00000011619.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## May act as scaffolding protein, and as adapter protein to couple membrane receptors to intracellular signaling pathways (Probable). Acts as a mediator of cell spreading and actin cytoskeleton rearrangement (PubMed:18710924). 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 (PubMed:29911972). May be involved in signaling of ITGB2/LFA-1 and other integrins (PubMed:14722085). Enhances HGF-MET signaling by recruiting Sos and activating the Ras pathway (PubMed:12147692). Enhances dihydrotestosterone-induced transactivation activity of AR, as well as dexamethasone-induced transactivation activity of NR3C1, but not affect estrogen-induced transactivation (PubMed:12361945, PubMed:18222118). Stabilizes TP73 isoform Alpha, probably by inhibiting its ubiquitination, and increases its proapoptotic activity (PubMed:15558019). Inhibits the kinase activity of DYRK1A and DYRK1B. Inhibits FMR1 binding to RNA. Part of a complex consisting of RANBP9, MKLN1 and GID8 (PubMed:12559565). 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 (PubMed:17467196, PubMed:29911972). 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 (PubMed:29911972). Interacts with GTP-bound Ran, AR, CDC2L1/p110C, CALB1, S100A7, USP11, MKLN1, SOS1 or SOS2, GID8, and FMR1 (PubMed:11470507, PubMed:9817760, PubMed:12361945, PubMed:12084015, PubMed:12421467, PubMed:12147692, PubMed:12684061, PubMed:14511641, PubMed:14684163, PubMed:15381419, PubMed:18710924). Interacts with the Dyrk kinases HIPK2, DYRK1A, and DYRK1B (PubMed:12220523, PubMed:14500717). Interacts with TP73 isoform Alpha but not with TP53 (PubMed:15558019). Interacts with the HGF receptor MET and the integrins ITGB1 and ITGB2, but not with ITGAL (PubMed:14722085). Part of a complex consisting of RANBP9, RAN, DYRK1B and COPS5 (PubMed:14500717). Directly interacts with RANBP10 (PubMed:18222118). Interacts with YPEL5 (PubMed:20580816). Interacts with DDX4 (PubMed:27622290). Interacts with NGFR (By similarity). Interacts with TEX19 (By similarity). Q96S59; P05067: APP; NbExp=3; IntAct=EBI-636085, EBI-77613; Q96S59; Q9NRI5: DISC1; NbExp=7; IntAct=EBI-636085, EBI-529989; Q96S59; Q9Y463: DYRK1B; NbExp=4; IntAct=EBI-636085, EBI-634187; Q96S59; P49961: ENTPD1; NbExp=5; IntAct=EBI-636085, EBI-8074749; Q96S59; P35372: OPRM1; NbExp=5; IntAct=EBI-636085, EBI-2624570; Q96S59; P36873-2: PPP1CC; NbExp=3; IntAct=EBI-636085, EBI-3964623; Q96S59; P31151: S100A7; NbExp=3; IntAct=EBI-636085, EBI-357520; Q96S59; P31421: Grm2; Xeno; NbExp=4; IntAct=EBI-636085, EBI-7090147; Cytoplasm cleus ll membrane ; Peripheral membrane protein Note=The unphosphorylated form is predominantly cytoplasmic. A phosphorylated form is associated with the plasma membrane. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96S59-1; Sequence=Displayed; Name=2; IsoId=Q96S59-2; Sequence=VSP_013175; Name=3; IsoId=Q96S59-3; Sequence=VSP_056049; Ubiquitously expressed, with highest levels in testes, placenta, heart, and muscle, and lowest levels in lung. Within the brain, expressed predominantly by neurons in the gray matter of cortex, the granular layer of cerebellum and the Purkinje cells. The SPRY domain mediates the interaction with MET, AR, and CDC2L1. Phosphorylated in response to stress. Can be phosphorylated by the cleaved p110 form of CDC2L1 (p110C). Ubiquitinated. Polyubiquitination targets the protein for rapid degradation via the ubiquitin system. Can be deubiquitinated by USP11. Belongs to the RANBP9/10 family. According to some authors RANBP9 is located in centrosomes and involved in microtubule assembly. Other authors infirmed these results. Sequence=AAH19886.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; Sequence=AAH52781.1; Type=Frameshift; Evidence=; Sequence=AAK15469.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAA23216.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/42040/RANBP9"; ubiquitin ligase complex MAPK cascade protein binding nucleus cytoplasm cytosol microtubule associated complex plasma membrane microtubule nucleation axon guidance Ran GTPase binding membrane enzyme binding macromolecular complex assembly negative regulation of ERK1 and ERK2 cascade uc003nbb.1 uc003nbb.2 uc003nbb.3 uc003nbb.4 
ENST00000011653.9 CD4 ENST00000011653.9 Homo sapiens CD4 molecule (CD4), transcript variant 9, mRNA. (from RefSeq NM_001382714) B2R737 CD4_HUMAN D3DUS5 ENST00000011653.1 ENST00000011653.2 ENST00000011653.3 ENST00000011653.4 ENST00000011653.5 ENST00000011653.6 ENST00000011653.7 ENST00000011653.8 NM_001382714 P01730 Q4ZGK2 Q5U066 Q9UDE5 uc001qqv.1 uc001qqv.2 uc001qqv.3 uc001qqv.4 This gene encodes the CD4 membrane glycoprotein of T lymphocytes. The CD4 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize antigens displayed by an antigen presenting cell in the context of class II MHC molecules. The CD4 antigen is also a primary receptor for entry of the human immunodeficiency virus through interactions with the HIV Env gp120 subunit. This gene is expressed not only in T lymphocytes, but also in B cells, macrophages, granulocytes, as well as in various regions of the brain. The protein functions to initiate or augment the early phase of T-cell activation, and may function as an important mediator of indirect neuronal damage in infectious and immune-mediated diseases of the central nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been identified in this gene. [provided by RefSeq, May 2020]. 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. Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class II molecule:peptide complex. The antigens presented by class II peptides are derived from extracellular proteins while class I peptides are derived from cytosolic proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class II presented by antigen presenting cells (APCs). In turn, recruits the Src kinase LCK to the vicinity of the TCR-CD3 complex. LCK then initiates different intracellular signaling pathways by phosphorylating various substrates ultimately leading to lymphokine production, motility, adhesion and activation of T-helper cells. In other cells such as macrophages or NK cells, plays a role in differentiation/activation, cytokine expression and cell migration in a TCR/LCK-independent pathway. Participates in the development of T- helper cells in the thymus and triggers the differentiation of monocytes into functional mature macrophages. (Microbial infection) Primary receptor for human immunodeficiency virus-1 (HIV-1) (PubMed:2214026, PubMed:16331979, PubMed:9641677, PubMed:12089508). Down-regulated by HIV-1 Vpu (PubMed:17346169). Acts as a receptor for Human Herpes virus 7/HHV-7 (PubMed:7909607). Forms disulfide-linked homodimers at the cell surface. Interacts with LCK (PubMed:16888650). Interacts with PTK2/FAK1 (PubMed:18078954). Binds to P4HB/PDI. Interacts with IL16; this interaction induces a CD4-dependent signaling in lymphocytes (PubMed:1673145). Interacts (via Ig-like V-type domain) with MHCII alpha chain (via alpha-2 domain) and beta chain (via beta-2 domain); this interaction increases the affinity of TCR for peptide-MHCII. CD4 oligomerization via Ig-like C2-type 2 and 3 domains appears to be required for stable binding to MHCII and adhesion between T cells and APCs (PubMed:27114505, PubMed:21900604, PubMed:7604010). (Microbial infection) Interacts with HIV-1 Envelope polyprotein gp160 and protein Vpu (PubMed:2214026, PubMed:16331979, PubMed:9641677, PubMed:7604010). (Microbial infection) Interacts with Human Herpes virus 7 surface proteins. P01730; P51681: CCR5; NbExp=3; IntAct=EBI-353826, EBI-489374; P01730; P01730: CD4; NbExp=2; IntAct=EBI-353826, EBI-353826; P01730; P13473-2: LAMP2; NbExp=3; IntAct=EBI-353826, EBI-21591415; P01730; P06239: LCK; NbExp=2; IntAct=EBI-353826, EBI-1348; P01730; P04150: NR3C1; NbExp=2; IntAct=EBI-353826, EBI-493507; P01730; Q9Y371: SH3GLB1; NbExp=3; IntAct=EBI-353826, EBI-2623095; P01730; P04578: env; Xeno; NbExp=2; IntAct=EBI-353826, EBI-6163496; P01730; PRO_0000038427 [P04578]: env; Xeno; NbExp=3; IntAct=EBI-353826, EBI-6179761; P01730; Q1PHM6: env; Xeno; NbExp=2; IntAct=EBI-353826, EBI-15845606; P01730; Q2N0S6: env; Xeno; NbExp=3; IntAct=EBI-353826, EBI-16080048; P01730; P03407: nef; Xeno; NbExp=2; IntAct=EBI-353826, EBI-7355020; P01730; P05919: vpu; Xeno; NbExp=3; IntAct=EBI-353826, EBI-6164626; Cell membrane ingle-pass type I membrane protein te=Localizes to lipid rafts (PubMed:12517957, PubMed:9168119). Removed from plasma membrane by HIV- 1 Nef protein that increases clathrin-dependent endocytosis of this antigen to target it to lysosomal degradation. Cell surface expression is also down-modulated by HIV-1 Envelope polyprotein gp160 that interacts with, and sequesters CD4 in the endoplasmic reticulum. Highly expressed in T-helper cells. The presence of CD4 is a hallmark of T-helper cells which are specialized in the activation and growth of cytotoxic T-cells, regulation of B cells, or activation of phagocytes. CD4 is also present in other immune cells such as macrophages, dendritic cells or NK cells. The Ig-like V-type domain mediates the interaction with MHCII. Palmitoylation and association with LCK contribute to the enrichment of CD4 in lipid rafts. Phosphorylated by PKC; phosphorylation at Ser-433 plays an important role for CD4 internalization. The OKT monoclonal antibodies are widely used for the analysis of human peripheral blood T-lymphocytes. OKT4 reacts with T- helper/inducer lymphocytes. The OKT4 epitope of the CD4 cell-surface protein is polymorphic in white, black, and Japanese populations. The variable phenotypic expression is due a CD4 polymorphism. OKT4 positive individuals carry Arg-265 and OKT4 negative individuals carry Trp-265 [MIM:613949]. Immunodeficiency 79 (IMD79) [MIM:619238]: An autosomal recessive disorder characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus (HPV). Some patients may also have recurrent respiratory infections. Laboratory studies show a complete absence of CD4+ T cells. Note=The disease is caused by variants affecting the gene represented in this entry. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cd4/"; Name=Wikipedia; Note=CD4 entry; URL="https://en.wikipedia.org/wiki/CD4"; virus receptor activity cytokine production positive regulation of protein phosphorylation adaptive immune response immune system process transmembrane signaling receptor activity receptor binding extracellular matrix structural constituent protein binding early endosome endoplasmic reticulum lumen endoplasmic reticulum membrane plasma membrane integral component of plasma membrane induction by virus of host cell-cell fusion immune response cell adhesion signal transduction cell surface receptor signaling pathway enzyme linked receptor protein signaling pathway transmembrane receptor protein tyrosine kinase signaling pathway zinc ion binding external side of plasma membrane cell surface positive regulation of calcium ion transport into cytosol coreceptor activity membrane integral component of membrane viral process fusion of virus membrane with host plasma membrane cytokine-mediated signaling pathway immunoglobulin binding enzyme binding protein kinase binding T cell differentiation macrophage differentiation entry into host cell clathrin-coated vesicle membrane response to estradiol maintenance of protein location in cell response to vitamin D positive regulation of kinase activity helper T cell enhancement of adaptive immune response interleukin-15-mediated signaling pathway signaling receptor activity interleukin-16 binding interleukin-16 receptor activity T cell receptor complex positive regulation of T cell proliferation T cell activation MHC class II protein binding identical protein binding protein homodimerization activity positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of MAPK cascade T cell selection positive regulation of interleukin-2 biosynthetic process membrane raft positive regulation of monocyte differentiation positive regulation of protein kinase activity positive regulation of transcription, DNA-templated positive regulation of viral entry into host cell regulation of defense response to virus by virus positive regulation of peptidyl-tyrosine phosphorylation defense response to Gram-negative bacterium positive regulation of calcium-mediated signaling T cell receptor signaling pathway regulation of T cell activation positive regulation of T cell activation regulation of calcium ion transport membrane organization positive regulation of ERK1 and ERK2 cascade cellular response to granulocyte macrophage colony-stimulating factor stimulus protein tyrosine kinase binding uc001qqv.1 uc001qqv.2 uc001qqv.3 uc001qqv.4 
ENST00000011691.6 SS18L2 ENST00000011691.6 Homo sapiens SS18 like 2 (SS18L2), transcript variant 1, mRNA. (from RefSeq NM_001370300) B2R5L1 ENST00000011691.1 ENST00000011691.2 ENST00000011691.3 ENST00000011691.4 ENST00000011691.5 NM_001370300 Q9UHA2 S18L2_HUMAN uc003clk.1 uc003clk.2 uc003clk.3 Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L2 gene is homologous to SS18.[supplied by OMIM, Jul 2002]. 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 :: SRR1660809.219285.1, SRR1660809.73432.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## Q9UHA2; Q15006: EMC2; NbExp=3; IntAct=EBI-10962400, EBI-359031; Q9UHA2; P63215: GNG3; NbExp=3; IntAct=EBI-10962400, EBI-1046668; Q9UHA2; Q86Y78: LYPD6; NbExp=3; IntAct=EBI-10962400, EBI-14035066; Q9UHA2; Q9P267-2: MBD5; NbExp=3; IntAct=EBI-10962400, EBI-17671489; Q9UHA2; Q86X19: TMEM17; NbExp=3; IntAct=EBI-10962400, EBI-11343485; Q9UHA2; Q9H869-2: YY1AP1; NbExp=4; IntAct=EBI-10962400, EBI-12150045; Belongs to the SS18 family. transcription coactivator activity protein binding nucleus positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of dendrite morphogenesis uc003clk.1 uc003clk.2 uc003clk.3 
ENST00000011898.10 TSPAN9 ENST00000011898.10 Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA. (from RefSeq NM_006675) D3DUQ7 ENST00000011898.1 ENST00000011898.2 ENST00000011898.3 ENST00000011898.4 ENST00000011898.5 ENST00000011898.6 ENST00000011898.7 ENST00000011898.8 ENST00000011898.9 NET5 NM_006675 O75954 Q53FV2 Q6FGJ8 TSN9_HUMAN uc001qlp.1 uc001qlp.2 uc001qlp.3 uc001qlp.4 uc001qlp.5 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. Alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Nov 2009]. Found in a complex with GP6. Membrane ; Multi-pass membrane protein Note=Colocalizes with GP6 in tetraspanin microdomains on the platelet surface. Expressed in megakaryocytes and platelets (at protein level). Glycosylated. Belongs to the tetraspanin (TM4SF) family. molecular_function plasma membrane integral component of plasma membrane focal adhesion biological_process membrane integral component of membrane tetraspanin-enriched microdomain uc001qlp.1 uc001qlp.2 uc001qlp.3 uc001qlp.4 uc001qlp.5 
ENST00000012049.10 QPCTL ENST00000012049.10 Homo sapiens glutaminyl-peptide cyclotransferase like (QPCTL), transcript variant 1, mRNA. (from RefSeq NM_017659) ENST00000012049.1 ENST00000012049.2 ENST00000012049.3 ENST00000012049.4 ENST00000012049.5 ENST00000012049.6 ENST00000012049.7 ENST00000012049.8 ENST00000012049.9 NM_017659 Q53HE4 Q96F74 Q9NXS2 QPCTL_HUMAN uc010xxr.1 uc010xxr.2 uc010xxr.3 uc010xxr.4 Responsible for the biosynthesis of pyroglutamyl peptides. Reaction=N-terminal L-glutaminyl-[peptide] = N-terminal 5-oxo-L-prolyl- [peptide] + NH4(+); Xref=Rhea:RHEA:23652, Rhea:RHEA-COMP:11736, Rhea:RHEA-COMP:11846, ChEBI:CHEBI:28938, ChEBI:CHEBI:64722, ChEBI:CHEBI:87215; EC=2.3.2.5; Evidence= Q9NXS2-3; Q6UX06: OLFM4; NbExp=3; IntAct=EBI-13336719, EBI-2804156; Q9NXS2-3; Q5BVD1: TTMP; NbExp=3; IntAct=EBI-13336719, EBI-10243654; Golgi apparatus membrane ; Single-pass type I membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NXS2-1; Sequence=Displayed; Name=2; IsoId=Q9NXS2-3; Sequence=VSP_054066; Belongs to the glutaminyl-peptide cyclotransferase family. It is unclear whether this protein requires a metal cofactor for catalysis. It was originally proposed to be a Zn(2+)-dependent metalloenzyme based on structural similarities to bacterial aminopeptidases and the observation that it can bind Zn(2+) ions, typically in a 1:1 stoichiometry (PubMed:21288892). However, a recent study suggests a Zn(2+)-independent catalytic mechanism (By similarity). Golgi membrane Golgi apparatus zinc ion binding membrane integral component of membrane glutaminyl-peptide cyclotransferase activity transferase activity transferase activity, transferring acyl groups peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase metal ion binding uc010xxr.1 uc010xxr.2 uc010xxr.3 uc010xxr.4 
ENST00000012443.9 PPP5C ENST00000012443.9 Homo sapiens protein phosphatase 5 catalytic subunit (PPP5C), transcript variant 1, mRNA. (from RefSeq NM_006247) ENST00000012443.1 ENST00000012443.2 ENST00000012443.3 ENST00000012443.4 ENST00000012443.5 ENST00000012443.6 ENST00000012443.7 ENST00000012443.8 NM_006247 P53041 PPP5 PPP5_HUMAN Q16722 Q53XV2 uc002pem.1 uc002pem.2 uc002pem.3 uc002pem.4 uc002pem.5 This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]. 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:14734805, PubMed:14764652, PubMed:14871926, PubMed:15383005, PubMed:15546861, PubMed:16260606, PubMed:16790549, PubMed:16892053, PubMed:19176521, PubMed:19948726, PubMed:21144835, PubMed:22399290, PubMed:22781750, PubMed:23102700, PubMed:9000529, PubMed:30699359). 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 (PubMed:14734805, PubMed:14764652, PubMed:14871926, PubMed:15383005, PubMed:15546861, PubMed:16260606, PubMed:16790549, PubMed:16892053, PubMed:19176521, PubMed:19948726, PubMed:21144835, PubMed:22399290, PubMed:22781750, PubMed:23102700, PubMed:9000529, PubMed:30699359). 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:14871926, PubMed:16260606, PubMed:21144835). Inhibits ASK1/MAP3K5-mediated apoptosis induced by oxidative stress (PubMed:23102700). Plays a positive role in adipogenesis, mainly through the dephosphorylation and activation of PPARG transactivation function (By similarity). Also dephosphorylates and inhibits the anti- adipogenic effect of NR3C1 (By similarity). Regulates the circadian rhythms, through the dephosphorylation and activation of CSNK1E (PubMed:16790549). May modulate TGF-beta signaling pathway by the regulation of SMAD3 phosphorylation and protein expression levels (PubMed:22781750). Dephosphorylates and may play a role in the regulation of TAU/MAPT (PubMed:15546861). 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 (PubMed:30699359). 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; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; 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. Kinetic parameters: KM=1.847 uM for CSNK1E (at 30 degrees Celsius) ; KM=13.2 uM for MAPT/TAU (at pH 7.4 and 30 degrees Celsius) ; Probably forms a complex composed of chaperones HSP90 and HSP70, co-chaperones STIP1/HOP, CDC37, PPP5C, PTGES3/p23, TSC1 and client protein TSC2 (PubMed:29127155). 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 (PubMed:29127155). Part of a complex with HSP90/HSP90AA1 and steroid receptors (By similarity). Interacts (via TPR repeats) with HSP90AA1 (via TPR repeat-binding motif) or HSPA1A/HSPA1B; the interaction is direct and activates the phosphatase activity (PubMed:15383005, PubMed:15577939, PubMed:16531226). Dissociates from HSPA1A/HSPA1B and HSP90AA1 in response to arachidonic acid (PubMed:15383005). Interacts with CPNE1 (via VWFA domain) (By similarity). Interacts with CDC16, CDC27 (PubMed:9405394). Interacts with KLHDC10 (via the 6 Kelch repeats); inhibits the phosphatase activity on MAP3K5 (PubMed:23102700). Interacts with ATM and ATR; both interactions are induced by DNA damage and enhance ATM and ATR kinase activity (PubMed:14871926). Interacts with RAD17; reduced by DNA damage (PubMed:14871926). Interacts with nuclear receptors such as NR3C1/GCR and PPARG (activated by agonist); regulates their transactivation activities (By similarity). 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 (PubMed:22399290). Interacts with SMAD2 and SMAD3 but not with SMAD1; decreases SMAD3 phosphorylation and protein levels (PubMed:22781750). Interacts (via TPR repeats) with CRY1 and CRY2; the interaction with CRY2 down- regulates the phosphatase activity on CSNK1E (PubMed:16790549). 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 (PubMed:19948726). Interacts with FLCN (PubMed:27353360). P53041; Q9UL18: AGO1; NbExp=2; IntAct=EBI-716663, EBI-527363; P53041; Q9H9G7: AGO3; NbExp=2; IntAct=EBI-716663, EBI-2267883; P53041; Q16543: CDC37; NbExp=5; IntAct=EBI-716663, EBI-295634; P53041; P50750: CDK9; NbExp=3; IntAct=EBI-716663, EBI-1383449; P53041; Q49AN0: CRY2; NbExp=3; IntAct=EBI-716663, EBI-2212355; P53041; P03372: ESR1; NbExp=4; IntAct=EBI-716663, EBI-78473; P53041; Q92731: ESR2; NbExp=4; IntAct=EBI-716663, EBI-78505; P53041; P07900: HSP90AA1; NbExp=12; IntAct=EBI-716663, EBI-296047; P53041; P08238: HSP90AB1; NbExp=8; IntAct=EBI-716663, EBI-352572; P53041; Q5SY16: NOL9; NbExp=2; IntAct=EBI-716663, EBI-1055462; P53041; P30153: PPP2R1A; NbExp=3; IntAct=EBI-716663, EBI-302388; P53041; P53041: PPP5C; NbExp=2; IntAct=EBI-716663, EBI-716663; P53041; P31948: STIP1; NbExp=4; IntAct=EBI-716663, EBI-1054052; Nucleus Cytoplasm Cell membrane Note=Predominantly nuclear (PubMed:15383005). But also present in the cytoplasm (PubMed:15383005). Translocates from the cytoplasm to the plasma membrane in a RAC1- dependent manner (PubMed:19948726). Ubiquitous. Activated by at least two different proteolytic cleavages producing a 56 kDa and a 50 kDa form. Belongs to the PPP phosphatase family. PP-5 (PP-T) subfamily. MAPK cascade mitotic cell cycle 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 nucleoplasm cytoplasm cytosol plasma membrane DNA repair transcription, DNA-templated protein dephosphorylation cellular response to DNA damage stimulus microtubule binding lipid binding response to lead ion membrane histone dephosphorylation hydrolase activity phosphatase activity heat shock protein binding macromolecular complex peptidyl-threonine dephosphorylation identical protein binding neuron projection neuronal cell body positive regulation of I-kappaB kinase/NF-kappaB signaling perikaryon intracellular membrane-bounded organelle response to morphine ADP binding metal ion binding tau protein binding protein oligomerization protein heterooligomerization Hsp90 protein binding negative regulation of cell death peptidyl-serine dephosphorylation 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 uc002pem.1 uc002pem.2 uc002pem.3 uc002pem.4 uc002pem.5 
ENST00000013070.11 UBR7 ENST00000013070.11 Homo sapiens ubiquitin protein ligase E3 component n-recognin 7 (UBR7), transcript variant 3, non-coding RNA. (from RefSeq NR_038150) C14orf130 ENST00000013070.1 ENST00000013070.10 ENST00000013070.2 ENST00000013070.3 ENST00000013070.4 ENST00000013070.5 ENST00000013070.6 ENST00000013070.7 ENST00000013070.8 ENST00000013070.9 NR_038150 Q86U21 Q86UA9 Q8N806 Q96BY0 Q9NVV6 UBR7_HUMAN uc001ybm.1 uc001ybm.2 uc001ybm.3 uc001ybm.4 uc001ybm.5 This gene encodes a UBR box-containing protein that belongs to the E3 ubiquitin ligase family. The protein also contains a plant homeodomain (PHD) in the C-terminus. In mammals, the encoded protein recognizes N-degrons, the destabilizing N-terminal residues of short-lived proteins, which results in ubiquitinylation, and proteolysis via the proteasome. [provided by RefSeq, Jul 2016]. E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N- terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent 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. Expressed in sperm (at protein level). Li-Campeau syndrome (LICAS) [MIM:619189]: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, epilepsy, ptosis, hypothyroidism, and variable cardiac and genital anomalies. Additional features may include seizures, short stature, hypotonia, and brain imaging anomalies, such as cortical atrophy. Note=The disease is caused by variants affecting the gene represented in this entry. Sequence=AAH15046.1; Type=Erroneous initiation; Evidence=; Sequence=AAH51819.4; Type=Erroneous initiation; Evidence=; Sequence=BAA91639.1; Type=Erroneous initiation; Evidence=; molecular_function cytoplasm biological_process zinc ion binding protein ubiquitination transferase activity metal ion binding ubiquitin protein ligase activity uc001ybm.1 uc001ybm.2 uc001ybm.3 uc001ybm.4 uc001ybm.5 
ENST00000013222.5 INMT ENST00000013222.5 Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA. (from RefSeq NM_006774) B8ZZ69 ENST00000013222.1 ENST00000013222.2 ENST00000013222.3 ENST00000013222.4 INMT_HUMAN NM_006774 O95050 Q3KP49 Q9P1Y2 Q9UBY4 Q9UHQ0 uc003tbs.1 N-methylation of endogenous and xenobiotic compounds is a major method by which they are degraded. This gene encodes an enzyme that N-methylates indoles such as tryptamine. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream MINDY4 (aka FAM188B) gene. In rodents and other mammals such as cetartiodactyla this gene is in the opposite orientation compared to its orientation in human and other primates and this gene appears to have been lost in carnivora and chiroptera. [provided by RefSeq, Jul 2019]. 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 (By similarity). Catalyzes the N-methylation of tryptamine and structurally related 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=; Kinetic parameters: KM=2.9 mM for tryptamine ; Monomer. O95050; Q53G59: KLHL12; NbExp=6; IntAct=EBI-10191038, EBI-740929; Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95050-1; Sequence=Displayed; Name=2; IsoId=O95050-2; Sequence=VSP_045922; Widely expressed. The highest levels were in thyroid, adrenal gland, adult and fetal lung. Intermediate levels in heart, placenta, skeletal muscle, testis, small intestine, pancreas, stomach, spinal cord, lymph node and trachea. Very low levels in adult and fetal kidney and liver, in adult spleen, thymus, ovary, colon and bone marrow. Not expressed in peripheral blood leukocytes and brain. Belongs to the class I-like SAM-binding methyltransferase superfamily. NNMT/PNMT/TEMT family. thioether S-methyltransferase activity protein binding cytoplasm cytosol methyltransferase activity amine metabolic process response to toxic substance transferase activity amine N-methyltransferase activity methylation uc003tbs.1 
ENST00000014914.6 GPRC5A ENST00000014914.6 Homo sapiens G protein-coupled receptor class C group 5 member A (GPRC5A), mRNA. (from RefSeq NM_003979) B3KV45 ENST00000014914.1 ENST00000014914.2 ENST00000014914.3 ENST00000014914.4 ENST00000014914.5 GPCR5A NM_003979 O95357 Q8NFJ5 RAI3 RAI3_HUMAN RAIG1 uc001rba.1 uc001rba.2 uc001rba.3 uc001rba.4 uc001rba.5 This gene encodes a member of the type 3 G protein-coupling receptor family, characterized by the signature 7-transmembrane domain motif. The encoded protein may be involved in interaction between retinoid acid and G protein signalling pathways. Retinoic acid plays a critical role in development, cellular growth, and differentiation. This gene may play a role in embryonic development and epithelial cell differentiation. [provided by RefSeq, Jul 2008]. 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 :: SRR7346977.2461861.1, SRR7346977.2565752.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000014914.6/ ENSP00000014914.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Orphan receptor. Could be involved in modulating differentiation and maintaining homeostasis of epithelial cells. This retinoic acid-inducible GPCR provide evidence for a possible interaction between retinoid and G-protein signaling pathways. Functions as a negative modulator of EGFR signaling (By similarity). May act as a lung tumor suppressor (PubMed:18000218). Interacts (via its transmembrane domain) with EGFR. Cell membrane ; Multi-pass membrane protein Cytoplasmic vesicle membrane ; Multi-pass membrane protein Note=Localized in perinuclear vesicles, probably Golgi- associated vesicles. Expressed at high level in fetal and adult lung tissues but repressed in most human lung cancers (PubMed:9857033, PubMed:18000218). Constitutively expressed in fetal kidney and adult placenta, kidney, prostate, testis, ovary, small intestine, colon, stomach, and spinal cord at low to moderate levels. Not detectable in fetal heart, brain, and liver and adult heart, brain, liver, skeletal muscle, pancreas, spleen, thymus, and peripheral leukocytes. According to PubMed:10783259, expressed at low but detectable level in pancreas and heart. By all-trans retinoic acid (ATRA). Phosphorylated in two conserved double-tyrosine motifs, Tyr- 317/Tyr-320 and Tyr-347/Tyr-350, by EGFR; leading to inactivation of the tumor suppressive function of GPRC5A in lung cancer cells. Tyr-317 and Tyr-320 are the preferred residues responsible for EGFR-mediated GPRC5A phosphorylation. Belongs to the G-protein coupled receptor 3 family. G-protein coupled receptor activity protein binding nucleolus plasma membrane integral component of plasma membrane signal transduction negative regulation of epidermal growth factor-activated receptor activity G-protein coupled receptor signaling pathway membrane integral component of membrane protein kinase activator activity cytoplasmic vesicle membrane cytoplasmic vesicle vesicle activation of protein kinase activity intracellular membrane-bounded organelle receptor complex cadherin binding extracellular exosome uc001rba.1 uc001rba.2 uc001rba.3 uc001rba.4 uc001rba.5 
ENST00000014930.9 HEBP1 ENST00000014930.9 Homo sapiens heme binding protein 1 (HEBP1), mRNA. (from RefSeq NM_015987) A8K1G2 ENST00000014930.1 ENST00000014930.2 ENST00000014930.3 ENST00000014930.4 ENST00000014930.5 ENST00000014930.6 ENST00000014930.7 ENST00000014930.8 HBP HEBP1_HUMAN NM_015987 Q9NRV9 Q9Y5Z5 uc001rbd.1 uc001rbd.2 uc001rbd.3 uc001rbd.4 uc001rbd.5 The full-length protein encoded by this gene is an intracellular tetrapyrrole-binding protein. This protein includes a natural chemoattractant peptide of 21 amino acids at the N-terminus, which is a natural ligand for formyl peptide receptor-like receptor 2 (FPRL2) and promotes calcium mobilization and chemotaxis in monocytes and dendritic cells. [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 :: ERR279873.4554.1, SRR3476690.869805.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000014930.9/ ENSP00000014930.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May bind free porphyrinogens that may be present in the cell and thus facilitate removal of these potentially toxic compound. Binds with a high affinity to one molecule of heme or porphyrins. It binds metalloporphyrins, free porphyrins and N-methylprotoporphyrin with similar affinities. Monomer. Cytoplasm Forms a distorted beta-barrel structure, with two helices that are packed against the outer surface of the barrel. Porphyrins are expected to bind to a hydrophobic patch on the outer surface of the beta-barrel structure (By similarity). Belongs to the HEBP family. extracellular region cytoplasm G-protein coupled receptor signaling pathway circadian rhythm heme binding extracellular exosome uc001rbd.1 uc001rbd.2 uc001rbd.3 uc001rbd.4 uc001rbd.5 
ENST00000016171.6 COX15 ENST00000016171.6 Homo sapiens cytochrome c oxidase assembly homolog COX15 (COX15), transcript variant 11, non-coding RNA. (from RefSeq NR_164009) A8K6I9 COX15_HUMAN ENST00000016171.1 ENST00000016171.2 ENST00000016171.3 ENST00000016171.4 ENST00000016171.5 NR_164009 O60556 O75878 Q5TD00 Q5TD01 Q7KZN9 Q7Z3Q3 Q9NTN0 uc001kqb.1 uc001kqb.2 uc001kqb.3 uc001kqb.4 uc001kqb.5 uc001kqb.6 Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [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 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 :: SRR7346977.2458739.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## May be involved in the biosynthesis of heme A. Porphyrin-containing compound metabolism; heme A biosynthesis; heme A from heme O: step 1/1. Q7KZN9; P30041: PRDX6; NbExp=3; IntAct=EBI-3248549, EBI-2255129; Mitochondrion membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=COX15.1; IsoId=Q7KZN9-1; Sequence=Displayed; Name=2; Synonyms=COX15.2; IsoId=Q7KZN9-2; Sequence=VSP_011281; Predominantly found in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain. Mitochondrial complex IV deficiency, nuclear type 6 (MC4DN6) [MIM:615119]: An autosomal recessive multisystem disorder with variable manifestations. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels. te=The disease is caused by variants affecting the gene represented in this entry. Belongs to the COX15/CtaA family. cytochrome-c oxidase activity protein binding nucleus mitochondrion mitochondrial inner membrane mitochondrial respiratory chain mitochondrial electron transport, cytochrome c to oxygen heme biosynthetic process heme a biosynthetic process respiratory gaseous exchange respiratory chain complex IV assembly membrane integral component of membrane oxidoreductase activity, acting on the CH-CH group of donors oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor heme binding mitochondrial membrane cellular respiration oxidation-reduction process binding, bridging cytochrome complex hydrogen ion transmembrane transport uc001kqb.1 uc001kqb.2 uc001kqb.3 uc001kqb.4 uc001kqb.5 uc001kqb.6 
ENST00000016913.8 MS4A12 ENST00000016913.8 Homo sapiens membrane spanning 4-domains A12 (MS4A12), transcript variant 1, mRNA. (from RefSeq NM_017716) ENST00000016913.1 ENST00000016913.2 ENST00000016913.3 ENST00000016913.4 ENST00000016913.5 ENST00000016913.6 ENST00000016913.7 F5GX98 M4A12_HUMAN NM_017716 Q8N6L4 Q9NXJ0 uc001npr.1 uc001npr.2 uc001npr.3 uc001npr.4 The protein encoded by this gene is a cell surface protein found primarily in the apical membrane of colonocytes. Silencing of this gene in colon cancer cells inhibits the proliferation, cell motility, and chemotactic invasion of cells. This gene is part of a cluster of similar genes found on chromosome 11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]. May be involved in signal transduction as a component of a multimeric receptor complex. Q9NXJ0; Q9BU27: FAM3A; NbExp=3; IntAct=EBI-10227644, EBI-10298603; Q9NXJ0; Q13021: MALL; NbExp=6; IntAct=EBI-10227644, EBI-750078; Q9NXJ0; Q9Y342: PLLP; NbExp=6; IntAct=EBI-10227644, EBI-3919291; Membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NXJ0-1; Sequence=Displayed; Name=2; IsoId=Q9NXJ0-2; Sequence=VSP_044899; Belongs to the MS4A family. protein binding membrane integral component of membrane uc001npr.1 uc001npr.2 uc001npr.3 uc001npr.4 
ENST00000016946.8 RGPD5 ENST00000016946.8 Homo sapiens RANBP2 like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA. (from RefSeq NM_005054) ENST00000016946.1 ENST00000016946.2 ENST00000016946.3 ENST00000016946.4 ENST00000016946.5 ENST00000016946.6 ENST00000016946.7 HEL161 NM_005054 V9HWE4 V9HWE4_HUMAN uc061mtq.1 uc061mtq.2 RAN is a small GTP-binding protein of the RAS superfamily that is associated with the nuclear membrane and is thought to control a variety of cellular functions through its interactions with other proteins. This gene shares a high degree of sequence identity with RANBP2, a large RAN-binding protein localized at the cytoplasmic side of the nuclear pore complex. It is believed that this RANBP2 gene family member arose from a duplication event 3 Mb distal to RANBP2. Alternative splicing has been observed for this locus and two variants are described. Additional splicing is suggested but complete sequence for further transcripts has not been determined. [provided by RefSeq, Jul 2008]. cell intracellular transport uc061mtq.1 uc061mtq.2 
ENST00000017003.7 XYLT2 ENST00000017003.7 Homo sapiens xylosyltransferase 2 (XYLT2), transcript variant 1, mRNA. (from RefSeq NM_022167) ENST00000017003.1 ENST00000017003.2 ENST00000017003.3 ENST00000017003.4 ENST00000017003.5 ENST00000017003.6 NM_022167 Q6UY41 Q86V00 Q9H1B5 UNQ3058/PRO9878 XT2 XYLT2_HUMAN uc002iqo.1 uc002iqo.2 uc002iqo.3 uc002iqo.4 uc002iqo.5 uc002iqo.6 The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]. Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein. Reaction=L-seryl-[protein] + UDP-alpha-D-xylose = 3-O-(beta-D-xylosyl)- L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:50192, Rhea:RHEA- COMP:9863, Rhea:RHEA-COMP:12567, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:57632, ChEBI:CHEBI:58223, ChEBI:CHEBI:132085; EC=2.4.2.26; Evidence= Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Note=Active with either Mg(2+) or Mn(2+), but activity is highest when both are present. ; Glycan metabolism; chondroitin sulfate biosynthesis. Glycan metabolism; heparan sulfate biosynthesis. Monomer. Golgi apparatus membrane ; Single- pass type II membrane protein Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H1B5-1; Sequence=Displayed; Name=2; IsoId=Q9H1B5-2; Sequence=VSP_013758, VSP_013759; Widely expressed. Expressed at higher level in kidney and pancreas. Contains disulfide bonds. Spondyloocular syndrome (SOS) [MIM:605822]: A syndrome characterized by cataract, loss of vision due to retinal detachment, facial dysmorphism, facial hypotonia, normal height with disproportional short trunk, osteoporosis, immobile spine with thoracic kyphosis and reduced lumbal lordosis. Note=The disease is caused by variants affecting the gene represented in this entry. Pseudoxanthoma elasticum (PXE) [MIM:264800]: A multisystem disorder characterized by accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and Burch membrane in the eye. Clinically, patients exhibit characteristic lesions of the posterior segment of the eye including peau d'orange, angioid streaks, and choroidal neovascularizations, of the skin including soft, ivory colored papules in a reticular pattern that predominantly affect the neck and large flexor surfaces, and of the cardiovascular system with peripheral and coronary arterial occlusive disease as well as gastrointestinal bleedings. Note=The gene represented in this entry acts as a disease modifier. PXE patients carrying causative ABCC6 mutations, manifest a more severe disease course characterized by earlier onset, frequent skin lesions and higher organ involvement, in the presence of XYLT2 variants. Belongs to the glycosyltransferase 14 family. XylT subfamily. Golgi membrane magnesium ion binding extracellular region extracellular space Golgi apparatus glycosaminoglycan biosynthetic process acetylglucosaminyltransferase activity heparan sulfate proteoglycan biosynthetic process membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups manganese ion binding protein xylosyltransferase activity proteoglycan biosynthetic process glycosaminoglycan metabolic process chondroitin sulfate biosynthetic process heparin biosynthetic process metal ion binding chondroitin sulfate proteoglycan biosynthetic process uc002iqo.1 uc002iqo.2 uc002iqo.3 uc002iqo.4 uc002iqo.5 uc002iqo.6 
ENST00000019103.8 SCTR ENST00000019103.8 Homo sapiens secretin receptor (SCTR), mRNA. (from RefSeq NM_002980) ENST00000019103.1 ENST00000019103.2 ENST00000019103.3 ENST00000019103.4 ENST00000019103.5 ENST00000019103.6 ENST00000019103.7 NM_002980 P47872 Q12961 Q13213 Q53T00 SCTR_HUMAN uc002tma.1 uc002tma.2 uc002tma.3 uc002tma.4 uc002tma.5 The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [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 :: BC035757.1, U28281.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000019103.8/ ENSP00000019103.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Receptor for secretin (SCT), which is involved in different processes such as regulation of the pH of the duodenal content, food intake and water homeostasis (PubMed:7612008, PubMed:25332973). The activity of this receptor is mediated by G proteins which activate adenylyl cyclase (By similarity). Upon binding to secretin, regulates the pH of the duodenum by (1) inhibiting the secretion of gastric acid from the parietal cells of the stomach and (2) stimulating the production of bicarbonate (NaHCO(3)) from the ductal cells of the pancreas (By similarity). In addition to regulating the pH of the duodenal content, plays a central role in diet induced thermogenesis: acts as a non-sympathetic brown fat (BAT) activator mediating prandial thermogenesis, which consequentially induces satiation. Mechanistically, secretin released by the gut after a meal binds to secretin receptor (SCTR) in brown adipocytes, activating brown fat thermogenesis by stimulating lipolysis, which is sensed in the brain and promotes satiation. Also able to stimulate lipolysis in white adipocytes. Also plays an important role in cellular osmoregulation by regulating renal water reabsorption. Also plays a role in the central nervous system: required for synaptic plasticity (By similarity). Cell membrane ; Multi-pass membrane protein Phosphorylated on Ser and Thr residues at the cytoplasmic C- terminus by G protein-coupled receptor kinases (GRKs). Belongs to the G-protein coupled receptor 2 family. diet induced thermogenesis transmembrane signaling receptor activity G-protein coupled receptor activity cytoplasmic microtubule plasma membrane signal transduction cell surface receptor signaling pathway G-protein coupled receptor signaling pathway brain development G-protein coupled peptide receptor activity cellular water homeostasis secretin receptor activity membrane integral component of membrane peptide hormone binding response to nutrient levels regulation of appetite positive regulation of cAMP-mediated signaling regulation of synaptic plasticity uc002tma.1 uc002tma.2 uc002tma.3 uc002tma.4 uc002tma.5 
ENST00000020673.6 PSD ENST00000020673.6 Homo sapiens pleckstrin and Sec7 domain containing (PSD), transcript variant 1, mRNA. (from RefSeq NM_002779) A5PKW4 B1AKX7 D3DR87 EFA6 EFA6A ENST00000020673.1 ENST00000020673.2 ENST00000020673.3 ENST00000020673.4 ENST00000020673.5 KIAA2011 NM_002779 PSD1 PSD1_HUMAN Q15673 Q8IVG0 TYL uc001kvg.1 uc001kvg.2 uc001kvg.3 uc001kvg.4 This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]. Guanine nucleotide exchange factor for ARF6 (PubMed:23603394). Induces cytoskeletal remodeling (By similarity). Interacts with ACTN1. Interacts (ARF6-bound form) with KCNK1; does not interact with KCNK1 in the absence of ARF6 (By similarity). A5PKW4; P70398: Usp9x; Xeno; NbExp=3; IntAct=EBI-719999, EBI-2214043; Cell membrane Cell projection, ruffle membrane Cleavage furrow Note=Distributed uniformly on the plasma membrane, as well as throughout the cytoplasm during metaphase. Subsequently concentrated at patches in the equatorial region at the onset of cytokinesis, and becomes distributed in the equatorial region concurrent with cleavage furrow ingression. In later cytokinesis phases, fades away from the cleavage furrow and becomes uniformly distributed throughout the plasma membrane. Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms may exist.; Name=1; IsoId=A5PKW4-1; Sequence=Displayed; Name=2; IsoId=A5PKW4-2; Sequence=VSP_031186; Isoform 2 is expressed in the brain. Belongs to the PSD family. Sequence=BAC23107.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; guanyl-nucleotide exchange factor activity ARF guanyl-nucleotide exchange factor activity protein binding phospholipid binding plasma membrane signal transduction postsynaptic density membrane neuron projection development regulation of ARF protein signal transduction cleavage furrow ruffle membrane cell projection dendritic spine extrinsic component of postsynaptic endosome membrane postsynaptic density, intracellular component uc001kvg.1 uc001kvg.2 uc001kvg.3 uc001kvg.4 
ENST00000020926.8 SYT13 ENST00000020926.8 Homo sapiens synaptotagmin 13 (SYT13), transcript variant 1, mRNA. (from RefSeq NM_020826) A8K4P4 D3DQP1 ENST00000020926.1 ENST00000020926.2 ENST00000020926.3 ENST00000020926.4 ENST00000020926.5 ENST00000020926.6 ENST00000020926.7 KIAA1427 NM_020826 Q7L8C5 Q9BQS3 Q9H041 Q9P2C0 SYT13_HUMAN uc001myq.1 uc001myq.2 uc001myq.3 uc001myq.4 This gene encodes a member of the large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]. May be involved in transport vesicle docking to the plasma membrane. Interacts with NRXN1. Membrane ; Single-pass membrane protein Expressed in brain, pancreas and kidney. The first C2 domain/C2A does not mediate Ca(2+)-dependent phospholipid binding. The second C2 domain/C2B domain binds phospholipids regardless of whether calcium is present. Belongs to the synaptotagmin family. Sequence=BAA92665.1; Type=Erroneous initiation; Evidence=; SNARE binding phosphatidylserine binding calcium ion binding calcium-dependent phospholipid binding plasma membrane integral component of plasma membrane regulation of dopamine secretion membrane integral component of membrane vesicle-mediated transport calcium ion regulated exocytosis regulation of calcium ion-dependent exocytosis transport vesicle clathrin binding axon neuron projection intracellular membrane-bounded organelle exocytic vesicle cellular response to calcium ion uc001myq.1 uc001myq.2 uc001myq.3 uc001myq.4 
ENST00000020945.4 SNAI2 ENST00000020945.4 Homo sapiens snail family transcriptional repressor 2 (SNAI2), mRNA. (from RefSeq NM_003068) B2R6P6 ENST00000020945.1 ENST00000020945.2 ENST00000020945.3 NM_003068 O43623 Q53FC1 SLUG SLUGH SNAI2_HUMAN uc286arv.1 uc286arv.2 This gene encodes a member of the Snail family of C2H2-type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E-box motifs and is also likely to repress E-cadherin transcription in breast carcinoma. This protein is involved in epithelial-mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects. [provided by RefSeq, Jul 2008]. 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 :: AK223368.1, SRR3476690.115526.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2467144, SAMEA2467146 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000020945.4/ ENSP00000020945.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcriptional repressor that modulates both activator- dependent and basal transcription. Involved in the generation and migration of neural crest cells. Plays a role in mediating RAF1-induced transcriptional repression of the TJ protein, occludin (OCLN) and subsequent oncogenic transformation of epithelial cells (By similarity). Represses BRCA2 expression by binding to its E2-box- containing silencer and recruiting CTBP1 and HDAC1 in breast cells. In epidermal keratinocytes, binds to the E-box in ITGA3 promoter and represses its transcription. Involved in the regulation of ITGB1 and ITGB4 expression and cell adhesion and proliferation in epidermal keratinocytes. Binds to E-box2 domain of BSG and activates its expression during TGFB1-induced epithelial-mesenchymal transition (EMT) in hepatocytes. Represses E-Cadherin/CDH1 transcription via E-box elements. Involved in osteoblast maturation. Binds to RUNX2 and SOC9 promoters and may act as a positive and negative transcription regulator, respectively, in osteoblasts. Binds to CXCL12 promoter via E-box regions in mesenchymal stem cells and osteoblasts. Plays an essential role in TWIST1-induced EMT and its ability to promote invasion and metastasis. Interacts (via SNAG domain) with LIMD1 (via LIM domains), WTIP (via LIM domains) and AJUBA (via LIM domains) (By similarity). Interacts (via zinc fingers) with KPNA2, KPNB1, and TNPO1. May interact (via zinc fingers) with IPO7. O43623; Q9NPB3: CABP2; NbExp=3; IntAct=EBI-9876238, EBI-12011224; O43623; P68400: CSNK2A1; NbExp=3; IntAct=EBI-9876238, EBI-347804; O43623; P21673: SAT1; NbExp=3; IntAct=EBI-9876238, EBI-711613; O43623; P36406: TRIM23; NbExp=3; IntAct=EBI-9876238, EBI-740098; O43623; P36508: ZNF76; NbExp=3; IntAct=EBI-9876238, EBI-7254550; Nucleus Cytoplasm. Note=Observed in discrete foci in interphase nuclei. These nuclear foci do not overlap with the nucleoli, the SP100 and the HP1 heterochromatin or the coiled body, suggesting SNAI2 is associated with active transcription or active splicing regions. Expressed in most adult human tissues, including spleen, thymus, prostate, testis, ovary, small intestine, colon, heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Not detected in peripheral blood leukocyte. Expressed in the dermis and in all layers of the epidermis, with high levels of expression in the basal layers (at protein level). Expressed in osteoblasts (at protein level). Expressed in mesenchymal stem cells (at protein level). Expressed in breast tumor cells (at protein level). Repression activity depends on the C-terminal DNA-binding zinc fingers and on the N-terminal repression domain. GSK3B-mediated phosphorylation results in cytoplasmic localization and degradation. Waardenburg syndrome 2D (WS2D) [MIM:608890]: WS2 is a genetically heterogeneous, autosomal dominant disorder characterized by sensorineural deafness, pigmentary disturbances, and absence of dystopia canthorum. The frequency of deafness is higher in WS2 than in WS1. Note=The disease is caused by variants affecting the gene represented in this entry. Piebald trait (PBT) [MIM:172800]: Autosomal dominant genetic developmental abnormality of pigmentation characterized by congenital patches of white skin and hair that lack melanocytes. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the snail C2H2-type zinc-finger protein family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/453/SNAI2"; 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 repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding osteoblast differentiation epithelial to mesenchymal transition aortic valve morphogenesis epithelial to mesenchymal transition involved in endocardial cushion formation cell migration involved in endocardial cushion formation nucleic acid binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm regulation of transcription, DNA-templated negative regulation of cell adhesion involved in substrate-bound cell migration Notch signaling pathway multicellular organism development sensory perception of sound response to radiation negative regulation of keratinocyte proliferation negative regulation of vitamin D biosynthetic process neural crest cell development cell migration positive regulation of cell migration negative regulation of chondrocyte differentiation regulation of chemokine production negative regulation of cell adhesion mediated by integrin positive regulation of histone acetylation desmosome disassembly negative regulation of apoptotic process pigmentation negative regulation of DNA damage response, signal transduction by p53 class mediator sequence-specific DNA binding positive regulation of fat cell differentiation regulation of osteoblast differentiation metal ion binding white fat cell differentiation palate development epithelium development cartilage morphogenesis regulation of branching involved in salivary gland morphogenesis Notch signaling involved in heart development negative regulation of vitamin D receptor signaling pathway E-box binding cellular response to epidermal growth factor stimulus cellular response to ionizing radiation negative regulation of canonical Wnt signaling pathway negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage negative regulation of stem cell proliferation regulation of bicellular tight junction assembly negative regulation of anoikis negative regulation of extrinsic apoptotic signaling pathway in absence of ligand uc286arv.1 uc286arv.2 
ENST00000022615.9 VDAC3 ENST00000022615.9 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 (By similarity). (from UniProt Q9Y277) ENST00000022615.1 ENST00000022615.2 ENST00000022615.3 ENST00000022615.4 ENST00000022615.5 ENST00000022615.6 ENST00000022615.7 ENST00000022615.8 NR_182163 Q9UIS0 Q9Y277 VDAC3_HUMAN uc003xpc.1 uc003xpc.2 uc003xpc.3 uc003xpc.4 uc003xpc.5 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 (By similarity). Interacts with ARMC12 in a TBC1D21-dependent manner. Interacts with MISFA. Q9Y277; P21796: VDAC1; NbExp=2; IntAct=EBI-354196, EBI-354158; Mitochondrion outer membrane Membrane Note=May localize to non-mitochondrial membranes. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y277-1; Sequence=Displayed; Name=2; IsoId=Q9Y277-2; Sequence=VSP_005079; Expressed in erythrocytes (at protein level) (PubMed:27641616). Widely expressed. Highest in testis (PubMed:9781040). 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. Belongs to the eukaryotic mitochondrial porin family. nucleotide binding behavioral fear response protein binding nucleus mitochondrion mitochondrial outer membrane ion transport chemical synaptic transmission neuron-neuron synaptic transmission learning voltage-gated anion channel activity porin activity inorganic anion transport adenine transport membrane integral component of membrane pore complex transmembrane transport extracellular exosome anion transmembrane transport regulation of cilium assembly uc003xpc.1 uc003xpc.2 uc003xpc.3 uc003xpc.4 uc003xpc.5 
ENST00000023064.9 SLC7A9 ENST00000023064.9 Homo sapiens solute carrier family 7 member 9 (SLC7A9), transcript variant 1, mRNA. (from RefSeq NM_014270) B2R9A6 BAT1 BAT1_HUMAN ENST00000023064.1 ENST00000023064.2 ENST00000023064.3 ENST00000023064.4 ENST00000023064.5 ENST00000023064.6 ENST00000023064.7 ENST00000023064.8 NM_014270 P82251 SLC7A9 uc002ntu.1 uc002ntu.2 uc002ntu.3 uc002ntu.4 uc002ntu.5 uc002ntu.6 uc002ntu.7 This gene encodes a protein that belongs to a family of light subunits of amino acid transporters. This protein plays a role in the high-affinity and sodium-independent transport of cystine and neutral and dibasic amino acids, and appears to function in the reabsorption of cystine in the kidney tubule. Mutations in this gene cause non-type I cystinuria, a disease that leads to cystine stones in the urinary system due to impaired transport of cystine and dibasic amino acids. Alternate transcript variants, which encode the same protein, have been found for this gene. [provided by RefSeq, Jul 2011]. Associates with SLC3A1 to form a functional transporter complex that mediates the electrogenic exchange between cationic amino acids and neutral amino acids, with a stoichiometry of 1:1 (PubMed:8663357, PubMed:16825196, PubMed:32817565, PubMed:32494597). Has system b(0,+)-like activity with high affinity for extracellular cationic amino acids and L-cystine and lower affinity for intracellular neutral amino acids (PubMed:8663357, PubMed:16825196, PubMed:32494597). Substrate exchange is driven by high concentration of intracellular neutral amino acids and the intracellular reduction of L-cystine to L- cysteine (PubMed:8663357). Required for reabsorption of L-cystine and dibasic amino acids across the brush border membrane in renal proximal tubules. Reaction=L-arginine(in) + L-leucine(out) = L-arginine(out) + L- leucine(in); Xref=Rhea:RHEA:71059, ChEBI:CHEBI:32682, ChEBI:CHEBI:57427; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71060; 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=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71064; Evidence=; Reaction=L-arginine(in) + L-phenylalanine(out) = L-arginine(out) + L- phenylalanine(in); Xref=Rhea:RHEA:71067, ChEBI:CHEBI:32682, ChEBI:CHEBI:58095; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71068; Evidence=; Reaction=L-arginine(in) + L-cysteine(out) = L-arginine(out) + L- cysteine(in); Xref=Rhea:RHEA:71071, ChEBI:CHEBI:32682, ChEBI:CHEBI:35235; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71072; Evidence=; Reaction=L-arginine(in) + L-cystine(out) = L-arginine(out) + L- cystine(in); Xref=Rhea:RHEA:71075, ChEBI:CHEBI:32682, ChEBI:CHEBI:35491; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:71076; Evidence=; Reaction=L-arginine(in) + L-lysine(out) = L-arginine(out) + L- lysine(in); Xref=Rhea:RHEA:70827, ChEBI:CHEBI:32551, ChEBI:CHEBI:32682; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:70828; Evidence=; Kinetic parameters: KM=41 uM for L-cystine ; KM=85 uM for L-arginine ; KM=90 uM for L-leucine ; Disulfide-linked heterodimer composed of the catalytic light chain subunit SLC7A9 and the heavy chain subunit SLC3A1. The heterodimer is the minimal functional unit. Assembles in heterotetramers (dimers of heterodimers) and higher order oligomers; the oligomerization is mediated by SLC3A1 likely to prevent degradation and facilitate heteromer trafficking to the plasma membrane (PubMed:16825196, PubMed:32494597, PubMed:32817565). Interacts with CAV1 (By similarity). P82251; O43889-2: CREB3; NbExp=3; IntAct=EBI-3936589, EBI-625022; P82251; Q07837: SLC3A1; NbExp=2; IntAct=EBI-3936589, EBI-46442178; Apical cell membrane ; Multi-pass membrane protein ll membrane ; Multi-pass membrane protein Expressed in the brush border membrane in the kidney (at protein level). Kidney, small intestine, liver and placenta. Cystinuria (CSNU) [MIM:220100]: An autosomal disorder characterized by impaired epithelial cell transport of cystine and dibasic amino acids (lysine, ornithine, and arginine) in the proximal renal tubule and gastrointestinal tract. The impaired renal reabsorption of cystine and its low solubility causes the formation of calculi in the urinary tract, resulting in obstructive uropathy, pyelonephritis, and, rarely, renal failure. te=The disease is caused by variants affecting the gene represented in this entry. Belongs to the amino acid-polyamine-organocation (APC) superfamily. amino acid transmembrane transport protein binding plasma membrane integral component of plasma membrane amino acid transport amino acid transmembrane transporter activity neutral amino acid transmembrane transporter activity L-amino acid transmembrane transporter activity L-cystine transmembrane transporter activity neutral amino acid transport L-cystine transport membrane integral component of membrane apical plasma membrane transmembrane transporter activity brush border membrane peptide antigen binding leukocyte migration transmembrane transport macromolecular complex assembly L-alpha-amino acid transmembrane transport uc002ntu.1 uc002ntu.2 uc002ntu.3 uc002ntu.4 uc002ntu.5 uc002ntu.6 uc002ntu.7 
ENST00000025008.10 RB1CC1 ENST00000025008.10 Homo sapiens RB1 inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA. (from RefSeq NM_014781) ENST00000025008.1 ENST00000025008.2 ENST00000025008.3 ENST00000025008.4 ENST00000025008.5 ENST00000025008.6 ENST00000025008.7 ENST00000025008.8 ENST00000025008.9 KIAA0203 NM_014781 Q86YR4 Q8TDY2 Q8WVU9 Q92601 RB1CC1 RBCC1_HUMAN RBICC uc003xre.1 uc003xre.2 uc003xre.3 uc003xre.4 uc003xre.5 uc003xre.6 The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]. Involved in autophagy (PubMed:21775823). Regulates early events but also late events of autophagosome formation through direct interaction with Atg16L1 (PubMed:23392225). Required for the formation of the autophagosome-like double-membrane structure that surrounds the Salmonella-containing vacuole (SCV) during S.typhimurium infection and subsequent xenophagy (By similarity). Involved in repair of DNA damage caused by ionizing radiation, which subsequently improves cell survival by decreasing apoptosis (By similarity). Inhibits PTK2/FAK1 and PTK2B/PYK2 kinase activity, affecting their downstream signaling pathways (PubMed:10769033, PubMed:12221124). Plays a role as a modulator of TGF-beta-signaling by restricting substrate specificity of RNF111 (By similarity). Functions as a DNA-binding transcription factor (PubMed:12095676). Is a potent regulator of the RB1 pathway through induction of RB1 expression (PubMed:14533007). Plays a crucial role in muscular differentiation (PubMed:12163359). Plays an indispensable role in fetal hematopoiesis and in the regulation of neuronal homeostasis (By similarity). Part of a complex consisting of ATG13/KIAA0652, ULK1 and RB1CC1 (PubMed:19597335, PubMed:19211835). This complex associates with ATG101 (PubMed:19597335, PubMed:19211835). Interacts with PTK2/FAK1 and PTK2B/PYK2 (PubMed:10769033, PubMed:12221124). Interacts with GABARAP and GABARAPL1 (PubMed:23043107). Interacts with ATG16L1; the interaction is required for ULK1 complex-dependent autophagy (PubMed:24954904, PubMed:23262492, PubMed:23392225, PubMed:28890335). Interacts with RNF111, SKI and SMAD7 (By similarity). Interacts with COP1 in the cytoplasm of proliferating cells in response to UV stimulation (PubMed:23289756). Interacts with TP53 (PubMed:21775823). Interacts with C9orf72 (PubMed:27334615). Interacts with WDR45B (PubMed:28561066). Interacts with ATG13; this interaction is increased in the absence of TMEM39A (PubMed:31806350). Interacts with WIPI2 (PubMed:28890335). Interacts with TAX1BP1 (PubMed:33226137, PubMed:34471133). Interacts (via phosphorylated FFAT motif) with MOSPD2, VAPA and VAPB (PubMed:33124732). Q8TDY2; Q9BSB4: ATG101; NbExp=7; IntAct=EBI-1047793, EBI-2946739; Q8TDY2; O75143: ATG13; NbExp=10; IntAct=EBI-1047793, EBI-2798775; Q8TDY2; Q676U5: ATG16L1; NbExp=6; IntAct=EBI-1047793, EBI-535909; Q8TDY2; Q9H1Y0: ATG5; NbExp=3; IntAct=EBI-1047793, EBI-1047414; Q8TDY2; Q96LT7-1: C9orf72; NbExp=7; IntAct=EBI-1047793, EBI-16693635; Q8TDY2; Q96LT7-2: C9orf72; NbExp=6; IntAct=EBI-1047793, EBI-16693673; Q8TDY2; A7MCY6: TBKBP1; NbExp=2; IntAct=EBI-1047793, EBI-359969; Q8TDY2; O75385: ULK1; NbExp=11; IntAct=EBI-1047793, EBI-908831; Q8TDY2; Q8C0J2-3: Atg16l1; Xeno; NbExp=6; IntAct=EBI-1047793, EBI-16029274; Nucleus Cytoplasm Cytoplasm, cytosol Preautophagosomal structure Lysosome Note=Under starvation conditions, is localized to puncate structures primarily representing the isolation membrane that sequesters a portion of the cytoplasm resulting in the formation of an autophagosome. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TDY2-1; Sequence=Displayed; Name=2; IsoId=Q8TDY2-2; Sequence=VSP_040097; Expression levels correlated closely with those of RB1 in cancer cell lines as well as in various normal human tissues. Abundantly expressed in human musculoskeletal and cultured osteosarcoma cells. Expression was difficult to detect in immature proliferating chondroblasts or myogenic cells in embryos, but became obvious and prominent concomitantly with the maturation of osteocytes, chondrocytes, and skeletal muscle cells. Expression in these musculoskeletal cells increased with RB1 expression, which is linked to the terminal differentiation of many tissues and cells. The introduction of the wild-type protein decreased the formation of macroscopic colonies in a cell growth assay. The FFAT motif is involved in the interaction with MOSPD2, VAPA and VAPB and its phosphorylation regulates these interactions. Phosphorylation at Ser-734 of the FFAT motif activates interaction with MOSPD2, VAPA and VAPB. Probably involved in the tumorigenesis of breast cancer. RB1CC1 is frequently mutated in breast cancer and shows characteristics of a classical tumor suppressor gene. Belongs to the ATG17 family. Sequence=BAA13194.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; autophagosome assembly pre-autophagosomal structure mitophagy liver development positive regulation of protein phosphorylation protein binding nucleus cytoplasm lysosome endoplasmic reticulum membrane cytosol autophagy cell cycle heart development macroautophagy regulation of macroautophagy extrinsic component of membrane protein kinase binding pexophagy nuclear membrane pre-autophagosomal structure membrane piecemeal microautophagy of nucleus negative regulation of apoptotic process positive regulation of cell size positive regulation of JNK cascade reticulophagy glycophagy ATG1/ULK1 kinase complex negative regulation of extrinsic apoptotic signaling pathway uc003xre.1 uc003xre.2 uc003xre.3 uc003xre.4 uc003xre.5 uc003xre.6 
ENST00000025301.4 AKAP11 ENST00000025301.4 Homo sapiens A-kinase anchoring protein 11 (AKAP11), mRNA. (from RefSeq NM_016248) AKA11_HUMAN AKAP220 ENST00000025301.1 ENST00000025301.2 ENST00000025301.3 KIAA0629 NM_016248 O75124 Q9NUK7 Q9UKA4 uc001uys.1 uc001uys.2 uc001uys.3 The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]. 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 :: AF176555.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000025301.4/ ENSP00000025301.2 RefSeq Select criteria :: based on conservation, longest protein ##RefSeq-Attributes-END## Binds to type II regulatory subunits of protein kinase A and anchors/targets them. Q9UKA4; Q99732: LITAF; NbExp=3; IntAct=EBI-1049491, EBI-725647; Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Cytoplasmic in premeiotic pachytene spermatocytes and in the centrosome of developing postmeiotic germ cells, while a midpiece/centrosome localization was found in elongating spermatocytes and mature sperm. Expressed in heart, brain, lung, liver, kidney, testis and ovary. Weakly expressed in skeletal muscle, pancreas and spleen. 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. Belongs to the AKAP110 family. Sequence=BAA92117.1; Type=Erroneous initiation; Evidence=; protein binding nucleolus cytoplasm peroxisome microtubule organizing center cytosol cytoskeleton plasma membrane protein localization protein phosphatase 1 binding intracellular signal transduction protein kinase A binding uc001uys.1 uc001uys.2 uc001uys.3 
ENST00000027335.8 CDH17 ENST00000027335.8 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. LI-cadherin may have a role in the morphological organization of liver and intestine. Involved in intestinal peptide transport. (from UniProt Q12864) CAD17_HUMAN ENST00000027335.1 ENST00000027335.2 ENST00000027335.3 ENST00000027335.4 ENST00000027335.5 ENST00000027335.6 ENST00000027335.7 NR_182224 Q12864 Q15336 Q2M2E0 uc003ygh.1 uc003ygh.2 uc003ygh.3 uc003ygh.4 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. LI-cadherin may have a role in the morphological organization of liver and intestine. Involved in intestinal peptide transport. Q12864; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-12278850, EBI-947187; Cell membrane ; Single-pass type I membrane protein Expressed in the gastrointestinal tract and pancreatic duct. Not detected in kidney, lung, liver, brain, adrenal gland and skin. 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. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/40020/CDH17"; cell morphogenesis germinal center B cell differentiation marginal zone B cell differentiation integrin binding transporter activity proton-dependent oligopeptide secondary active transmembrane transporter activity calcium ion binding nucleus plasma membrane cell-cell adherens junction oligopeptide transport cell-cell junction assembly cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules integrin-mediated signaling pathway cytoskeletal protein binding cell surface membrane integral component of membrane basolateral plasma membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules catenin complex cell junction B cell differentiation positive regulation of integrin activation by cell surface receptor linked signal transduction adherens junction organization oligopeptide transmembrane transport protein homodimerization activity cell-cell adhesion mediated by cadherin cadherin binding metal ion binding spleen development cell-cell adhesion uc003ygh.1 uc003ygh.2 uc003ygh.3 uc003ygh.4 
ENST00000029410.10 B4GALT7 ENST00000029410.10 Homo sapiens beta-1,4-galactosyltransferase 7 (B4GALT7), mRNA. (from RefSeq NM_007255) B3KN39 B4GT7_HUMAN ENST00000029410.1 ENST00000029410.2 ENST00000029410.3 ENST00000029410.4 ENST00000029410.5 ENST00000029410.6 ENST00000029410.7 ENST00000029410.8 ENST00000029410.9 NM_007255 Q9UBV7 Q9UHN2 UNQ748/PRO1478 XGALT1 uc003mhy.1 uc003mhy.2 uc003mhy.3 uc003mhy.4 uc003mhy.5 This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [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 :: SRR3476690.310844.1, SRR1163655.38696.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000029410.10/ ENSP00000029410.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts. Reaction=3-O-(beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-galactose = 3-O-(beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:15297, Rhea:RHEA-COMP:12567, Rhea:RHEA- COMP:12570, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:132085, ChEBI:CHEBI:132088; EC=2.4.1.133; Evidence=; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence=; Protein modification; protein glycosylation. Q9UBV7; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-10319970, EBI-3867333; Q9UBV7; Q15323: KRT31; NbExp=3; IntAct=EBI-10319970, EBI-948001; Q9UBV7; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-10319970, EBI-10172290; Q9UBV7; P53611: RABGGTB; NbExp=6; IntAct=EBI-10319970, EBI-536715; Q9UBV7; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-10319970, EBI-8638294; Golgi apparatus, Golgi stack membrane; Single- pass type II membrane protein. Note=Cis cisternae of Golgi stack. High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung. Ehlers-Danlos syndrome, spondylodysplastic type, 1 (EDSSPD1) [MIM:130070]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSSPD1 is an autosomal recessive form characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic features of Ehlers-Danlos syndrome. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the glycosyltransferase 7 family. Name=Functional Glycomics Gateway - GTase; Note=Beta-1,4- galactosyltransferase 7; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_442"; Golgi membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity protein binding Golgi apparatus carbohydrate metabolic process glycosaminoglycan biosynthetic process proteoglycan metabolic process cellular protein modification process protein glycosylation protein N-linked glycosylation galactosyltransferase activity membrane integral component of membrane transferase activity transferase activity, transferring glycosyl groups manganese ion binding glycosaminoglycan metabolic process Golgi cisterna membrane xylosylprotein 4-beta-galactosyltransferase activity metal ion binding negative regulation of fibroblast proliferation supramolecular fiber organization uc003mhy.1 uc003mhy.2 uc003mhy.3 uc003mhy.4 uc003mhy.5 
ENST00000035307.7 CHPF2 ENST00000035307.7 Transfers glucuronic acid (GlcUA) from UDP-GlcUA to N- acetylgalactosamine residues on the non-reducing end of the elongating chondroitin polymer. Has no N-acetylgalactosaminyltransferase activity. (from UniProt Q9P2E5) B2DBD8 CHPF2_HUMAN CHSY3 CSGLCAT ENST00000035307.1 ENST00000035307.2 ENST00000035307.3 ENST00000035307.4 ENST00000035307.5 ENST00000035307.6 KIAA1402 NR_171547 Q6P2I4 Q6UXD2 Q9P2E5 UNQ299/PRO339 uc003wjr.1 uc003wjr.2 uc003wjr.3 uc003wjr.4 Transfers glucuronic acid (GlcUA) from UDP-GlcUA to N- acetylgalactosamine residues on the non-reducing end of the elongating chondroitin polymer. Has no N-acetylgalactosaminyltransferase activity. Reaction=3-O-(beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal- (1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl-[protein] + UDP-alpha-D- glucuronate = 3-O-(beta-D-GlcA-(1->3)-beta-D-GalNAc-(1->4)-beta-D- GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-seryl- [protein] + H(+) + UDP; Xref=Rhea:RHEA:23428, Rhea:RHEA-COMP:12575, Rhea:RHEA-COMP:14058, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:132105, ChEBI:CHEBI:138442; EC=2.4.1.226; Reaction=3-O-([beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)](n)-beta-D- GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)- beta-D-Xyl)-L-seryl-[protein] + UDP-alpha-D-glucuronate = 3-O-(beta- D-GlcA-(1->3)-[beta-D-GalNAc-(1->4)-beta-D-GlcA-(1->3)](n)-beta-D- GalNAc-(1->4)-beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)- beta-D-Xyl)-L-seryl-[protein] + H(+) + UDP; Xref=Rhea:RHEA:54996, Rhea:RHEA-COMP:14060, Rhea:RHEA-COMP:14061, ChEBI:CHEBI:15378, ChEBI:CHEBI:58052, ChEBI:CHEBI:58223, ChEBI:CHEBI:138444, ChEBI:CHEBI:138445; EC=2.4.1.226; Golgi apparatus, Golgi stack membrane ; Single-pass type II membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9P2E5-1; Sequence=Displayed; Name=2; IsoId=Q9P2E5-2; Sequence=VSP_012724, VSP_012725; Ubiquitous. Highly expressed in placenta, small intestine and pancreas. Belongs to the chondroitin N- acetylgalactosaminyltransferase family. Sequence=BAA92640.1; Type=Erroneous initiation; Evidence=; Golgi membrane Golgi apparatus acetylgalactosaminyltransferase activity membrane integral component of membrane transferase activity chondroitin sulfate biosynthetic process Golgi cisterna membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity uc003wjr.1 uc003wjr.2 uc003wjr.3 uc003wjr.4 
ENST00000037243.7 GABARAPL2 ENST00000037243.7 Homo sapiens GABA type A receptor associated protein like 2 (GABARAPL2), mRNA. (from RefSeq NM_007285) ENST00000037243.1 ENST00000037243.2 ENST00000037243.3 ENST00000037243.4 ENST00000037243.5 ENST00000037243.6 FLC3A GABARAPL2 GBRL2_HUMAN GEF2 NM_007285 O08765 P60520 Q6FG91 Q9DCP8 Q9UQF7 uc002fen.1 uc002fen.2 uc002fen.3 uc002fen.4 Ubiquitin-like modifier involved in intra-Golgi traffic (By similarity). Modulates intra-Golgi transport through coupling between NSF activity and SNAREs activation (By similarity). It first stimulates the ATPase activity of NSF which in turn stimulates the association with GOSR1 (By similarity). Involved in autophagy (PubMed:20418806, PubMed:23209295). Plays a role in mitophagy which contributes to regulate mitochondrial quantity and quality by eliminating the mitochondria to a basal level to fulfill cellular energy requirements and preventing excess ROS production (PubMed:20418806, PubMed:23209295). Whereas LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (PubMed:20418806, PubMed:23209295). Monomer. Interacts with ATG3, ATG7, ATG13 and ULK1 (PubMed:11146101, PubMed:11825910, PubMed:11096062, PubMed:12507496, PubMed:23043107). Interacts with TP53INP1 and TP53INP2 (PubMed:19056683, PubMed:22421968, PubMed:22470510). Interacts with TBC1D25 (PubMed:21383079). Directly interacts with SQSTM1 and BNIP3 (PubMed:17580304, PubMed:23209295). Interacts with TECPR2 and PCM1 (PubMed:20562859, PubMed:24089205). Interacts with TBC1D5 (PubMed:22354992). Interacts with TRIM5 (PubMed:25127057). Interacts with MEFV and TRIM21 (PubMed:26347139). Interacts with WDFY3 (PubMed:24668264). Interacts with UBA5; promoting recruitment of UBA5 to the endoplasmic reticulum membrane (PubMed:26929408, PubMed:30990354). Interacts with GOSR1 (By similarity). Interacts with KBTBD6 and KBTBD7; the interaction is direct (PubMed:25684205). Interacts with reticulophagy regulators RETREG1, RETREG2 and RETREG3 (PubMed:34338405). Interacts with IRGM (PubMed:29420192). Interacts with DNM2 (PubMed:32315611). P60520; Q6RW13: AGTRAP; NbExp=3; IntAct=EBI-720116, EBI-741181; P60520; Q8IVF2-2: AHNAK2; NbExp=3; IntAct=EBI-720116, EBI-10217765; P60520; Q9P2R3: ANKFY1; NbExp=2; IntAct=EBI-720116, EBI-2513908; P60520; Q8N6T3: ARFGAP1; NbExp=3; IntAct=EBI-720116, EBI-716933; P60520; Q8N6T3-2: ARFGAP1; NbExp=3; IntAct=EBI-720116, EBI-6288865; P60520; O75143: ATG13; NbExp=3; IntAct=EBI-720116, EBI-2798775; P60520; Q676U5: ATG16L1; NbExp=2; IntAct=EBI-720116, EBI-535909; P60520; Q2TAZ0: ATG2A; NbExp=2; IntAct=EBI-720116, EBI-2514077; P60520; Q9NT62: ATG3; NbExp=5; IntAct=EBI-720116, EBI-988094; P60520; Q9Y4P1: ATG4B; NbExp=10; IntAct=EBI-720116, EBI-712014; P60520; O95352: ATG7; NbExp=7; IntAct=EBI-720116, EBI-987834; P60520; Q9BXK5: BCL2L13; NbExp=4; IntAct=EBI-720116, EBI-747430; P60520; O60238: BNIP3L; NbExp=3; IntAct=EBI-720116, EBI-849893; P60520; Q9NW68: BSDC1; NbExp=3; IntAct=EBI-720116, EBI-721848; P60520; Q9P1Z2: CALCOCO1; NbExp=3; IntAct=EBI-720116, EBI-749920; P60520; Q13137: CALCOCO2; NbExp=7; IntAct=EBI-720116, EBI-739580; P60520; Q8WXU2: DNAAF4; NbExp=2; IntAct=EBI-720116, EBI-2946907; P60520; P63167: DYNLL1; NbExp=3; IntAct=EBI-720116, EBI-349105; P60520; Q96FJ2: DYNLL2; NbExp=3; IntAct=EBI-720116, EBI-742371; P60520; P00533: EGFR; NbExp=3; IntAct=EBI-720116, EBI-297353; P60520; Q8IVP5: FUNDC1; NbExp=4; IntAct=EBI-720116, EBI-3059266; P60520; Q9BQS8: FYCO1; NbExp=2; IntAct=EBI-720116, EBI-2869338; P60520; P40939: HADHA; NbExp=4; IntAct=EBI-720116, EBI-356720; P60520; P54257: HAP1; NbExp=3; IntAct=EBI-720116, EBI-712814; P60520; Q2T9L4: INSYN1; NbExp=3; IntAct=EBI-720116, EBI-4311436; P60520; O00410: IPO5; NbExp=5; IntAct=EBI-720116, EBI-356424; P60520; Q8N6L0: KASH5; NbExp=3; IntAct=EBI-720116, EBI-749265; P60520; Q86V97: KBTBD6; NbExp=2; IntAct=EBI-720116, EBI-2514778; P60520; Q8WVZ9: KBTBD7; NbExp=3; IntAct=EBI-720116, EBI-473695; P60520; Q8N8K9: KIAA1958; NbExp=7; IntAct=EBI-720116, EBI-10181113; P60520; Q96L93-6: KIF16B; NbExp=3; IntAct=EBI-720116, EBI-10988217; P60520; P60409: KRTAP10-7; NbExp=6; IntAct=EBI-720116, EBI-10172290; P60520; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-720116, EBI-10172052; P60520; Q8N653: LZTR1; NbExp=3; IntAct=EBI-720116, EBI-2350056; P60520; Q9UH92: MLX; NbExp=5; IntAct=EBI-720116, EBI-741109; P60520; Q9UH92-3: MLX; NbExp=3; IntAct=EBI-720116, EBI-8852072; P60520; Q14596: NBR1; NbExp=11; IntAct=EBI-720116, EBI-742698; P60520; P46934: NEDD4; NbExp=6; IntAct=EBI-720116, EBI-726944; P60520; P46934-3: NEDD4; NbExp=3; IntAct=EBI-720116, EBI-11980721; P60520; Q8TD19: NEK9; NbExp=7; IntAct=EBI-720116, EBI-1044009; P60520; O75323: NIPSNAP2; NbExp=6; IntAct=EBI-720116, EBI-307133; P60520; Q9NV35: NUDT15; NbExp=3; IntAct=EBI-720116, EBI-3924801; P60520; Q9H4L5: OSBPL3; NbExp=3; IntAct=EBI-720116, EBI-1051317; P60520; Q15154: PCM1; NbExp=2; IntAct=EBI-720116, EBI-741421; P60520; Q9NS23: RASSF1; NbExp=2; IntAct=EBI-720116, EBI-367363; P60520; Q8WWW0: RASSF5; NbExp=2; IntAct=EBI-720116, EBI-367390; P60520; Q14257: RCN2; NbExp=6; IntAct=EBI-720116, EBI-356710; P60520; Q9H6L5-1: RETREG1; NbExp=2; IntAct=EBI-720116, EBI-16159046; P60520; Q9H6L5-2: RETREG1; NbExp=3; IntAct=EBI-720116, EBI-13382642; P60520; Q86VR2: RETREG3; NbExp=3; IntAct=EBI-720116, EBI-10192441; P60520; Q8IZE3-2: SCYL3; NbExp=3; IntAct=EBI-720116, EBI-11959369; P60520; Q9UH03: SEPTIN3; NbExp=2; IntAct=EBI-720116, EBI-727037; P60520; Q9H0K1: SIK2; NbExp=3; IntAct=EBI-720116, EBI-1181664; P60520; Q13501: SQSTM1; NbExp=24; IntAct=EBI-720116, EBI-307104; P60520; O95210: STBD1; NbExp=5; IntAct=EBI-720116, EBI-2947137; P60520; Q13188: STK3; NbExp=2; IntAct=EBI-720116, EBI-992580; P60520; Q13043: STK4; NbExp=2; IntAct=EBI-720116, EBI-367376; P60520; Q86VP1: TAX1BP1; NbExp=3; IntAct=EBI-720116, EBI-529518; P60520; Q8TC07: TBC1D15; NbExp=2; IntAct=EBI-720116, EBI-1048247; P60520; Q3MII6: TBC1D25; NbExp=4; IntAct=EBI-720116, EBI-11899977; P60520; Q9UPU7: TBC1D2B; NbExp=3; IntAct=EBI-720116, EBI-2947180; P60520; B9A6K1: TBC1D5; NbExp=3; IntAct=EBI-720116, EBI-10217641; P60520; Q92609: TBC1D5; NbExp=5; IntAct=EBI-720116, EBI-742381; P60520; Q66K14-2: TBC1D9B; NbExp=3; IntAct=EBI-720116, EBI-10217736; P60520; O15040: TECPR2; NbExp=2; IntAct=EBI-720116, EBI-2946991; P60520; Q9Y6I9: TEX264; NbExp=3; IntAct=EBI-720116, EBI-10329860; P60520; Q15025: TNIP1; NbExp=6; IntAct=EBI-720116, EBI-357849; P60520; Q96A56: TP53INP1; NbExp=6; IntAct=EBI-720116, EBI-9986117; P60520; Q9H8W5-2: TRIM45; NbExp=3; IntAct=EBI-720116, EBI-11993364; P60520; Q969E8: TSR2; NbExp=11; IntAct=EBI-720116, EBI-746981; P60520; Q9GZZ9: UBA5; NbExp=17; IntAct=EBI-720116, EBI-747805; P60520; O75385: ULK1; NbExp=3; IntAct=EBI-720116, EBI-908831; P60520; Q8IZQ1: WDFY3; NbExp=3; IntAct=EBI-720116, EBI-1569256; P60520; Q8N680: ZBTB2; NbExp=3; IntAct=EBI-720116, EBI-2515601; P60520; Q6NX45: ZNF774; NbExp=3; IntAct=EBI-720116, EBI-10251462; P60520; Q9Z2F7: Bnip3l; Xeno; NbExp=2; IntAct=EBI-720116, EBI-1774669; Cytoplasmic vesicle, autophagosome doplasmic reticulum membrane Golgi apparatus Ubiquitous. Expressed at high levels in the brain, heart, prostate, ovary, spleen and skeletal muscle. Expressed at very low levels in lung, thymus and small intestine. 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, GABARAPL2-I (PubMed:15169837, PubMed:20818167, PubMed:30661429, PubMed:31709703). The processed form is then activated by APG7L/ATG7, transferred to ATG3 and conjugated to phosphatidylethanolamine (PE) phospholipid to form the membrane-bound form, GABARAPL2-II (PubMed:15169837, PubMed:31709703). During non-canonical autophagy, the processed form is conjugated to phosphatidylserine (PS) phospholipid (PubMed:33909989). ATG4 proteins also mediate the delipidation of PE- conjugated forms required for GABARAPL2 recycling when autophagosomes fuse with lysosomes (PubMed:29458288, PubMed:31709703, PubMed:33909989). In addition, ATG4B and ATG4D mediate delipidation of ATG8 proteins conjugated to PS during non-canonical autophagy (PubMed:33909989). ATG4B constitutes the major protein for proteolytic activation (PubMed:30661429). ATG4D is the main enzyme for delipidation activity (By similarity). (Microbial infection) The Legionella effector RavZ is a deconjugating enzyme that hydrolyzes the amide bond between the C- terminal glycine residue and an adjacent aromatic residue in ATG8 proteins conjugated to phosphatidylethanolamine (PE), producing an ATG8 protein that is resistant to reconjugation by the host machinery due to the cleavage of the reactive C-terminal glycine (PubMed:31722778). RavZ is also able to mediate delipidation of ATG8 proteins conjugated to phosphatidylserine (PS) (PubMed:33909989). Phosphorylation at Ser-87 and Ser-88 by TBK1 prevents interaction with ATG4 (ATG4A, ATG4B, ATG4C or ATG4D) (PubMed:31709703). Phosphorylation by TBK1 on autophagosomes prevents their delipidation by ATG4 and premature removal from nascent autophagosomes (PubMed:31709703). Belongs to the ATG8 family. autophagosome assembly Golgi membrane SNARE binding autophagosome membrane mitophagy protein binding intracellular cytoplasm autophagosome Golgi apparatus cytosol intra-Golgi vesicle-mediated transport autophagy cellular response to nitrogen starvation microtubule binding protein transport macroautophagy cytoplasmic vesicle ubiquitin protein ligase binding positive regulation of ATPase activity beta-tubulin binding GABA receptor binding ATPase binding autophagosome maturation negative regulation of proteasomal protein catabolic process uc002fen.1 uc002fen.2 uc002fen.3 uc002fen.4 
ENST00000037502.11 MYOC ENST00000037502.11 Homo sapiens myocilin (MYOC), mRNA. (from RefSeq NM_000261) B2RD84 ENST00000037502.1 ENST00000037502.10 ENST00000037502.2 ENST00000037502.3 ENST00000037502.4 ENST00000037502.5 ENST00000037502.6 ENST00000037502.7 ENST00000037502.8 ENST00000037502.9 GLC1A MYOC_HUMAN NM_000261 O00620 Q7Z6Q9 Q99972 TIGR uc001ghu.1 uc001ghu.2 uc001ghu.3 uc001ghu.4 uc001ghu.5 MYOC encodes the protein myocilin, which is believed to have a role in cytoskeletal function. MYOC is expressed in many occular tissues, including the trabecular meshwork, and was revealed to be the trabecular meshwork glucocorticoid-inducible response protein (TIGR). The trabecular meshwork is a specialized eye tissue essential in regulating intraocular pressure, and mutations in MYOC have been identified as the cause of hereditary juvenile-onset open-angle glaucoma. [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 :: SRR5189667.323867.1, U85257.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153980, SAMEA2154125 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000037502.11/ ENSP00000037502.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhesion, spreading and formation of focal contacts. Negatively regulates cell-matrix adhesion and stress fiber assembly through Rho protein signal transduction. Modulates the organization of actin cytoskeleton by stimulating the formation of stress fibers through interactions with components of Wnt signaling pathways. Promotes cell migration through activation of PTK2 and the downstream phosphatidylinositol 3-kinase signaling. Plays a role in bone formation and promotes osteoblast differentiation in a dose-dependent manner through mitogen-activated protein kinase signaling. Mediates myelination in the peripheral nervous system through ERBB2/ERBB3 signaling. Plays a role as a regulator of muscle hypertrophy through the components of dystrophin- associated protein complex. Involved in positive regulation of mitochondrial depolarization. Plays a role in neurite outgrowth. May participate in the obstruction of fluid outflow in the trabecular meshwork. Homodimer (via N-terminus). Can also form higher oligomers (PubMed:9497363). Interacts with OLFM3, FN1, NRCAM, GLDN and NFASC (PubMed:12019210, PubMed:11773026, PubMed:23897819). Interacts (via N- terminus) with MYL2 (PubMed:11773029). Interacts with SFRP1, FRZB, FZD7, FZD10, FZD1 and WIF1; regulates Wnt signaling (PubMed:19188438). Interacts with SNTA1; regulates muscle hypertrophy. Interacts with ERBB2 and ERBB3; activates ERBB2-ERBB3 signaling pathway. Interacts with SNCG; affects its secretion and its aggregation (By similarity). Q99972; P10916: MYL2; NbExp=7; IntAct=EBI-11692272, EBI-725770; Q99972; O43765: SGTA; NbExp=3; IntAct=EBI-11692272, EBI-347996; Q99972; P09486: SPARC; NbExp=3; IntAct=EBI-11692272, EBI-2800983; Q99972; Q14515: SPARCL1; NbExp=2; IntAct=EBI-11692272, EBI-2682673; Secreted lgi apparatus Cytoplasmic vesicle Secreted, extracellular space. Secreted, extracellular space, extracellular matrix creted, extracellular exosome Mitochondrion Mitochondrion intermembrane space Mitochondrion inner membrane Mitochondrion outer membrane Rough endoplasmic reticulum Cell projection. Cell projection, cilium Note=Located preferentially in the ciliary rootlet and basal body of the connecting cilium of photoreceptor cells, and in the rough endoplasmic reticulum (PubMed:9169133). It is only imported to mitochondria in the trabecular meshwork (PubMed:17516541). Localizes to the Golgi apparatus in Schlemm's canal endothelial cells (PubMed:11053284). Appears in the extracellular space of trabecular meshwork cells by an unconventional mechanism, likely associated with exosome-like vesicles (PubMed:15944158). Localizes in trabecular meshwork extracellular matrix (PubMed:15944158). [Myocilin, C-terminal fragment]: Secreted. [Myocilin, N-terminal fragment]: Endoplasmic reticulum. Note=Remains retained in the endoplasmic reticulum. Detected in aqueous humor (PubMed:12697062). Detected in the eye (at protein level) (PubMed:11431441). Widely expressed. Highly expressed in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, and bone marrow-derived mesenchymal stem cells. Expressed predominantly in the retina. In normal eyes, found in the inner uveal meshwork region and the anterior portion of the meshwork. In contrast, in many glaucomatous eyes, it is found in more regions of the meshwork and seems to be expressed at higher levels than in normal eyes, regardless of the type or clinical severity of glaucoma. The myocilin 35 kDa fragment is detected in aqueous humor and to a lesser extent in iris and ciliary body. Up-regulated by dexamethasone, a glucocorticoid. Different isoforms may arise by post-translational modifications. Glycosylated. Palmitoylated. Undergoes a calcium-dependent proteolytic cleavage at Arg-226 by CAPN2 in the endoplasmic reticulum. The result is the production of two fragments, one of 35 kDa containing the C-terminal olfactomedin-like domain, and another of 20 kDa containing the N-terminal leucine zipper- like domain. Glaucoma 1, open angle, A (GLC1A) [MIM:137750]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. te=The disease is caused by variants affecting the gene represented in this entry. Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]: An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. MYOC mutations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease (PubMed:15733270). Sequence=BAA24532.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; osteoblast differentiation regulation of cell-matrix adhesion negative regulation of cell-matrix adhesion fibronectin binding frizzled binding protein binding extracellular region extracellular space mitochondrion mitochondrial outer membrane mitochondrial inner membrane mitochondrial intermembrane space endoplasmic reticulum rough endoplasmic reticulum Golgi apparatus cilium positive regulation of phosphatidylinositol 3-kinase signaling skeletal muscle hypertrophy membrane myelination in peripheral nervous system positive regulation of cell migration receptor tyrosine kinase binding neuron projection development cytoplasmic vesicle myosin light chain binding node of Ranvier negative regulation of Rho protein signal transduction non-canonical Wnt signaling pathway via JNK cascade ERBB2-ERBB3 signaling pathway cell projection regulation of MAPK cascade clustering of voltage-gated sodium channels metal ion binding regulation of stress fiber assembly positive regulation of stress fiber assembly negative regulation of stress fiber assembly positive regulation of focal adhesion assembly positive regulation of protein kinase B signaling positive regulation of mitochondrial depolarization bone development extracellular exosome positive regulation of substrate adhesion-dependent cell spreading uc001ghu.1 uc001ghu.2 uc001ghu.3 uc001ghu.4 uc001ghu.5 
ENST00000038176.8 NSMAF ENST00000038176.8 Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N-smase activation domain of TNF-R55. May regulate ceramide production by N- SMASE. (from UniProt Q92636) B4DFB0 E9PCH0 ENST00000038176.1 ENST00000038176.2 ENST00000038176.3 ENST00000038176.4 ENST00000038176.5 ENST00000038176.6 ENST00000038176.7 FAN FAN_HUMAN NR_182089 Q8IW26 Q92636 uc003xtt.1 uc003xtt.2 uc003xtt.3 uc003xtt.4 uc003xtt.5 Couples the p55 TNF-receptor (TNF-R55 / TNFR1) to neutral sphingomyelinase (N-SMASE). Specifically binds to the N-smase activation domain of TNF-R55. May regulate ceramide production by N- SMASE. Q92636; P60709: ACTB; NbExp=2; IntAct=EBI-2947053, EBI-353944; Q92636; Q9NPI6: DCP1A; NbExp=2; IntAct=EBI-2947053, EBI-374238; Q92636; Q8IZD4: DCP1B; NbExp=2; IntAct=EBI-2947053, EBI-521595; Q92636; O95166: GABARAP; NbExp=2; IntAct=EBI-2947053, EBI-712001; Q92636; Q9H0R8: GABARAPL1; NbExp=7; IntAct=EBI-2947053, EBI-746969; Q92636; P50552: VASP; NbExp=2; IntAct=EBI-2947053, EBI-748201; Q92636; Q9SJF3: At1g08370; Xeno; NbExp=2; IntAct=EBI-2947053, EBI-7786643; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q92636-1; Sequence=Displayed; Name=2; IsoId=Q92636-2; Sequence=VSP_042036; Ubiquitous. protein binding cytoplasm cytosol ceramide metabolic process signal transduction sphingomyelin phosphodiesterase activator activity positive regulation of apoptotic process positive regulation of catalytic activity positive regulation of ceramide biosynthetic process uc003xtt.1 uc003xtt.2 uc003xtt.3 uc003xtt.4 uc003xtt.5 
ENST00000039007.5 OTC ENST00000039007.5 Homo sapiens ornithine carbamoyltransferase (OTC), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_000531) A8K9P2 D3DWB0 ENST00000039007.1 ENST00000039007.2 ENST00000039007.3 ENST00000039007.4 NM_000531 OTC OTC_HUMAN P00480 Q3KNR1 Q6B0I1 Q9NYJ5 uc004def.1 uc004def.2 uc004def.3 uc004def.4 uc004def.5 uc004def.6 This nuclear gene encodes a mitochondrial matrix enzyme. Missense, nonsense, and frameshift mutations in this enzyme lead to ornithine transcarbamylase deficiency, which causes hyperammonemia. Since the gene for this enzyme maps close to that for Duchenne muscular dystrophy, it may play a role in that disease also. [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 :: SRR5189664.144333.1, SRR5189664.63751.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968968, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000039007.5/ ENSP00000039007.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Catalyzes the second step of the urea cycle, the condensation of carbamoyl phosphate with L-ornithine to form L-citrulline (PubMed:6372096, PubMed:8112735, PubMed:2556444). The urea cycle ensures the detoxification of ammonia by converting it to urea for excretion (PubMed:2556444). Reaction=carbamoyl phosphate + L-ornithine = H(+) + L-citrulline + phosphate; Xref=Rhea:RHEA:19513, ChEBI:CHEBI:15378, ChEBI:CHEBI:43474, ChEBI:CHEBI:46911, ChEBI:CHEBI:57743, ChEBI:CHEBI:58228; EC=2.1.3.3; Evidence= PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:19515; Evidence=; Negatively regulated by lysine acetylation. Nitrogen metabolism; urea cycle; L-citrulline from L-ornithine and carbamoyl phosphate: step 1/1. Homotrimer. Mitochondrion matrix Mainly expressed in liver and intestinal mucosa. Acetylation at Lys-88 negatively regulates ornithine carbamoyltransferase activity in response to nutrient signals. Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]: An X-linked disorder of the urea cycle which causes a form of hyperammonemia. Mutations with no residual enzyme activity are always expressed in hemizygote males by a very severe neonatal hyperammonemic coma that generally proves to be fatal. Heterozygous females are either asymptomatic or express orotic aciduria spontaneously or after protein intake. The disorder is treatable with supplemental dietary arginine and low protein diet. The arbitrary classification of patients into the 'neonatal' group (clinical hyperammonemia in the first few days of life) and 'late' onset (clinical presentation after the neonatal period) has been used to differentiate severe from mild forms. te=The disease is caused by variants affecting the gene represented in this entry. Belongs to the aspartate/ornithine carbamoyltransferase superfamily. OTCase family. urea cycle liver development ornithine carbamoyltransferase activity phospholipid binding cytoplasm mitochondrion mitochondrial inner membrane mitochondrial matrix cellular amino acid metabolic process arginine biosynthetic process ornithine metabolic process ornithine catabolic process midgut development cellular amino acid biosynthetic process response to zinc ion amino acid binding transferase activity carboxyl- or carbamoyltransferase activity citrulline biosynthetic process response to nutrient levels response to insulin phosphate ion binding arginine biosynthetic process via ornithine response to drug anion homeostasis protein homotrimerization response to biotin ammonia homeostasis uc004def.1 uc004def.2 uc004def.3 uc004def.4 uc004def.5 uc004def.6 
ENST00000039989.9 TTC17 ENST00000039989.9 Homo sapiens tetratricopeptide repeat domain 17 (TTC17), transcript variant 1, mRNA. (from RefSeq NM_018259) ENST00000039989.1 ENST00000039989.2 ENST00000039989.3 ENST00000039989.4 ENST00000039989.5 ENST00000039989.6 ENST00000039989.7 ENST00000039989.8 G3XAB3 NM_018259 Q8NEC0 Q96AE7 TTC17_HUMAN uc001mxi.1 uc001mxi.2 uc001mxi.3 uc001mxi.4 uc001mxi.5 Plays a role in primary ciliogenesis by modulating actin polymerization. Interacts with CATIP. Cytoplasm Cell membrane Cytoplasm, cytoskeleton Note=Colocalized with CATIP at F-actin rich zones and at dynamic plasma membrane protrusions. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96AE7-1; Sequence=Displayed; Name=2; IsoId=Q96AE7-2; Sequence=VSP_056857, VSP_056858, VSP_056859; Expressed in germ cells as well as in somatic cells of the testis (at protein level). Belongs to the TTC17 family. protein binding cytoplasm cytosol cytoskeleton plasma membrane actin cytoskeleton membrane cell projection organization actin filament polymerization cilium organization uc001mxi.1 uc001mxi.2 uc001mxi.3 uc001mxi.4 uc001mxi.5 
ENST00000040584.6 HOXC8 ENST00000040584.6 Homo sapiens homeobox C8 (HOXC8), mRNA. (from RefSeq NM_022658) A8K4J4 ENST00000040584.1 ENST00000040584.2 ENST00000040584.3 ENST00000040584.4 ENST00000040584.5 HOX3A HXC8_HUMAN NM_022658 O15221 O15362 P31273 uc001ser.1 uc001ser.2 uc001ser.3 uc001ser.4 uc001ser.5 This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, which are located on different chromosomes and consist of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXC genes located in a cluster on chromosome 12. The product of this gene may play a role in the regulation of cartilage differentiation. It could also be involved in chondrodysplasias or other cartilage disorders. [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 :: BC053898.1, AK290959.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000040584.6/ ENSP00000040584.4 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. Interacts with HOMEZ (PubMed:12925734). Forms a DNA-binding heterodimer with transcription factor PBX1 (PubMed:7791786). P31273; Q5BKX5-3: ACTMAP; NbExp=3; IntAct=EBI-1752118, EBI-11976299; P31273; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-1752118, EBI-10173507; P31273; Q9NX04: AIRIM; NbExp=3; IntAct=EBI-1752118, EBI-8643161; P31273; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-1752118, EBI-11954519; P31273; Q9H2G9: BLZF1; NbExp=3; IntAct=EBI-1752118, EBI-2548012; P31273; A2RRN7: CADPS; NbExp=3; IntAct=EBI-1752118, EBI-10179719; P31273; Q9BSQ5: CCM2; NbExp=3; IntAct=EBI-1752118, EBI-1573056; P31273; Q8NHQ1: CEP70; NbExp=3; IntAct=EBI-1752118, EBI-739624; P31273; Q9H5F2: CFAP68; NbExp=3; IntAct=EBI-1752118, EBI-718615; P31273; P05813: CRYBA1; NbExp=3; IntAct=EBI-1752118, EBI-7043337; P31273; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-1752118, EBI-3867333; P31273; Q92997: DVL3; NbExp=3; IntAct=EBI-1752118, EBI-739789; P31273; Q86Y13: DZIP3; NbExp=3; IntAct=EBI-1752118, EBI-948630; P31273; Q16610: ECM1; NbExp=3; IntAct=EBI-1752118, EBI-947964; P31273; P49356: FNTB; NbExp=3; IntAct=EBI-1752118, EBI-602349; P31273; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-1752118, EBI-5916454; P31273; Q9H4Y5: GSTO2; NbExp=3; IntAct=EBI-1752118, EBI-10194609; P31273; P13807: GYS1; NbExp=3; IntAct=EBI-1752118, EBI-740553; P31273; Q9UBX0: HESX1; NbExp=3; IntAct=EBI-1752118, EBI-8470369; P31273; P31249: HOXD3; NbExp=3; IntAct=EBI-1752118, EBI-3957655; P31273; O75031: HSF2BP; NbExp=3; IntAct=EBI-1752118, EBI-7116203; P31273; Q9UKT9: IKZF3; NbExp=3; IntAct=EBI-1752118, EBI-747204; P31273; Q7L273: KCTD9; NbExp=3; IntAct=EBI-1752118, EBI-4397613; P31273; Q5T749: KPRP; NbExp=3; IntAct=EBI-1752118, EBI-10981970; P31273; O76011: KRT34; NbExp=5; IntAct=EBI-1752118, EBI-1047093; P31273; Q92764: KRT35; NbExp=3; IntAct=EBI-1752118, EBI-1058674; P31273; O76013-2: KRT36; NbExp=3; IntAct=EBI-1752118, EBI-11958506; P31273; Q6A162: KRT40; NbExp=3; IntAct=EBI-1752118, EBI-10171697; P31273; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-1752118, EBI-11959885; P31273; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-1752118, EBI-11749135; P31273; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-1752118, EBI-10172290; P31273; P60410: KRTAP10-8; NbExp=5; IntAct=EBI-1752118, EBI-10171774; P31273; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-1752118, EBI-10172052; P31273; Q8IUC1: KRTAP11-1; NbExp=3; IntAct=EBI-1752118, EBI-1052037; P31273; P59990: KRTAP12-1; NbExp=3; IntAct=EBI-1752118, EBI-10210845; P31273; Q3SY46: KRTAP13-3; NbExp=3; IntAct=EBI-1752118, EBI-10241252; P31273; Q3LHN2: KRTAP19-2; NbExp=3; IntAct=EBI-1752118, EBI-12196745; P31273; Q3LI64: KRTAP6-1; NbExp=3; IntAct=EBI-1752118, EBI-12111050; P31273; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-1752118, EBI-11962084; P31273; Q8IUC2: KRTAP8-1; NbExp=3; IntAct=EBI-1752118, EBI-10261141; P31273; Q5SW96: LDLRAP1; NbExp=8; IntAct=EBI-1752118, EBI-747813; P31273; O95751: LDOC1; NbExp=3; IntAct=EBI-1752118, EBI-740738; P31273; P50458: LHX2; NbExp=3; IntAct=EBI-1752118, EBI-12179869; P31273; Q9UBR4-2: LHX3; NbExp=3; IntAct=EBI-1752118, EBI-12039345; P31273; Q9P2M1: LRP2BP; NbExp=3; IntAct=EBI-1752118, EBI-18273118; P31273; Q13387-4: MAPK8IP2; NbExp=3; IntAct=EBI-1752118, EBI-12345753; P31273; P50221: MEOX1; NbExp=3; IntAct=EBI-1752118, EBI-2864512; P31273; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-1752118, EBI-16439278; P31273; A6NJ78-4: METTL15; NbExp=3; IntAct=EBI-1752118, EBI-10174029; P31273; Q6IA69: NADSYN1; NbExp=3; IntAct=EBI-1752118, EBI-748610; P31273; Q8NI38: NFKBID; NbExp=3; IntAct=EBI-1752118, EBI-10271199; P31273; Q8IV28: NID2; NbExp=3; IntAct=EBI-1752118, EBI-10261509; P31273; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-1752118, EBI-22310682; P31273; O43482: OIP5; NbExp=3; IntAct=EBI-1752118, EBI-536879; P31273; Q02548: PAX5; NbExp=3; IntAct=EBI-1752118, EBI-296331; P31273; P26367: PAX6; NbExp=3; IntAct=EBI-1752118, EBI-747278; P31273; Q06710: PAX8; NbExp=3; IntAct=EBI-1752118, EBI-2683132; P31273; P40424: PBX1; NbExp=3; IntAct=EBI-1752118, EBI-301611; P31273; P40425: PBX2; NbExp=3; IntAct=EBI-1752118, EBI-348489; P31273; Q9BYU1: PBX4; NbExp=3; IntAct=EBI-1752118, EBI-10302990; P31273; Q5VU43-2: PDE4DIP; NbExp=3; IntAct=EBI-1752118, EBI-9640281; P31273; Q99471: PFDN5; NbExp=3; IntAct=EBI-1752118, EBI-357275; P31273; O15496: PLA2G10; NbExp=3; IntAct=EBI-1752118, EBI-726466; P31273; Q58EX7: PLEKHG4; NbExp=3; IntAct=EBI-1752118, EBI-949255; P31273; Q16633: POU2AF1; NbExp=3; IntAct=EBI-1752118, EBI-943588; P31273; P78424: POU6F2; NbExp=3; IntAct=EBI-1752118, EBI-12029004; P31273; Q9GZV8: PRDM14; NbExp=3; IntAct=EBI-1752118, EBI-3957793; P31273; Q9NQX0: PRDM6; NbExp=3; IntAct=EBI-1752118, EBI-11320284; P31273; Q9BYM8: RBCK1; NbExp=3; IntAct=EBI-1752118, EBI-2340624; P31273; Q8ND83: SLAIN1; NbExp=3; IntAct=EBI-1752118, EBI-10269374; P31273; Q15036: SNX17; NbExp=8; IntAct=EBI-1752118, EBI-1752620; P31273; Q86TI0: TBC1D1; NbExp=3; IntAct=EBI-1752118, EBI-1644036; P31273; O60806: TBX19; NbExp=3; IntAct=EBI-1752118, EBI-12096770; P31273; Q9Y458: TBX22; NbExp=3; IntAct=EBI-1752118, EBI-6427217; P31273; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-1752118, EBI-750487; P31273; Q08117-2: TLE5; NbExp=3; IntAct=EBI-1752118, EBI-11741437; P31273; Q63HR2: TNS2; NbExp=3; IntAct=EBI-1752118, EBI-949753; P31273; Q13077: TRAF1; NbExp=3; IntAct=EBI-1752118, EBI-359224; P31273; Q96RU7: TRIB3; NbExp=3; IntAct=EBI-1752118, EBI-492476; P31273; P14373: TRIM27; NbExp=3; IntAct=EBI-1752118, EBI-719493; P31273; Q8IWZ5: TRIM42; NbExp=3; IntAct=EBI-1752118, EBI-5235829; P31273; Q15654: TRIP6; NbExp=3; IntAct=EBI-1752118, EBI-742327; P31273; Q86WV8: TSC1; NbExp=3; IntAct=EBI-1752118, EBI-12806590; P31273; Q70EL1-9: USP54; NbExp=3; IntAct=EBI-1752118, EBI-11975223; P31273; O95231: VENTX; NbExp=3; IntAct=EBI-1752118, EBI-10191303; P31273; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-1752118, EBI-12040603; P31273; Q8TF47: ZFP90; NbExp=3; IntAct=EBI-1752118, EBI-11419867; P31273; Q9UDW3: ZMAT5; NbExp=3; IntAct=EBI-1752118, EBI-7850213; P31273; Q9UGI0: ZRANB1; NbExp=3; IntAct=EBI-1752118, EBI-527853; Nucleus. Belongs to the Antp homeobox family. negative regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II transcription factor activity, 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 microtubule cytoskeleton neuron differentiation sequence-specific DNA binding skeletal system morphogenesis uc001ser.1 uc001ser.2 uc001ser.3 uc001ser.4 uc001ser.5 
ENST00000040663.8 MRI1 ENST00000040663.8 Homo sapiens methylthioribose-1-phosphate isomerase 1 (MRI1), transcript variant 1, mRNA. (from RefSeq NM_001031727) ENST00000040663.1 ENST00000040663.2 ENST00000040663.3 ENST00000040663.4 ENST00000040663.5 ENST00000040663.6 ENST00000040663.7 MRDI MRI1 MTNA_HUMAN NM_001031727 Q8NDC9 Q9BV20 UNQ6390/PRO21135 uc002mxe.1 uc002mxe.2 uc002mxe.3 uc002mxe.4 uc002mxe.5 This enzyme functions in the methionine salvage pathway by catalyzing the interconversion of methylthioribose-1-phosphate and methythioribulose-1-phosphate. Elevated expression of the encoded protein is associated with metastatic melanoma and this protein promotes melanoma cell invasion independent of its enzymatic activity. Mutations in this gene may be associated with vanishing white matter disease (VMWD). [provided by RefSeq, Jul 2016]. Catalyzes the interconversion of methylthioribose-1-phosphate (MTR-1-P) into methylthioribulose-1-phosphate (MTRu-1-P). Independently from catalytic activity, promotes cell invasion in response to constitutive RhoA activation by promoting FAK tyrosine phosphorylation and stress fiber turnover. Reaction=S-methyl-5-thio-alpha-D-ribose 1-phosphate = S-methyl-5-thio- D-ribulose 1-phosphate; Xref=Rhea:RHEA:19989, ChEBI:CHEBI:58533, ChEBI:CHEBI:58548; EC=5.3.1.23; Evidence= Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 1/6. Q9BV20; P46379-2: BAG6; NbExp=3; IntAct=EBI-747381, EBI-10988864; Q9BV20; P55212: CASP6; NbExp=3; IntAct=EBI-747381, EBI-718729; Q9BV20; Q9Y2V7: COG6; NbExp=3; IntAct=EBI-747381, EBI-3866319; Q9BV20; Q9Y624: F11R; NbExp=3; IntAct=EBI-747381, EBI-742600; Q9BV20; P13473-2: LAMP2; NbExp=3; IntAct=EBI-747381, EBI-21591415; Q9BV20; Q9BV20: MRI1; NbExp=7; IntAct=EBI-747381, EBI-747381; Q9BV20; Q9BVL2: NUP58; NbExp=3; IntAct=EBI-747381, EBI-2811583; Q9BV20; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-747381, EBI-79165; Q9BV20; Q9H8W4: PLEKHF2; NbExp=3; IntAct=EBI-747381, EBI-742388; Q9BV20; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-747381, EBI-5280197; Q9BV20; Q9Y371: SH3GLB1; NbExp=3; IntAct=EBI-747381, EBI-2623095; Nucleus toplasm ll projection Note=Primarily nuclear, but cytoplasmic in cancer cells, with enrichment at leading edge of the plasma membrane in late stage tumor cells. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BV20-1; Sequence=Displayed; Name=2; IsoId=Q9BV20-2; Sequence=VSP_030935; By RhoA activation in cancer cells (at protein level). Belongs to the eIF-2B alpha/beta/delta subunits family. MtnA subfamily. fibrillar center nucleus nucleoplasm cytoplasm cytosol cellular amino acid biosynthetic process methionine biosynthetic process isomerase activity L-methionine biosynthetic process from S-adenosylmethionine L-methionine biosynthetic process from methylthioadenosine identical protein binding cell projection cellular metabolic process cellular biosynthetic process S-methyl-5-thioribose-1-phosphate isomerase activity uc002mxe.1 uc002mxe.2 uc002mxe.3 uc002mxe.4 uc002mxe.5 
ENST00000040738.10 BOD1L1 ENST00000040738.10 Homo sapiens biorientation of chromosomes in cell division 1 like 1 (BOD1L1), mRNA. (from RefSeq NM_148894) BD1L1_HUMAN BOD1L BOD1L1 ENST00000040738.1 ENST00000040738.2 ENST00000040738.3 ENST00000040738.4 ENST00000040738.5 ENST00000040738.6 ENST00000040738.7 ENST00000040738.8 ENST00000040738.9 FAM44A KIAA1327 NM_148894 Q6P0M8 Q8NFC6 Q96AL1 Q9H6G0 Q9NTD6 Q9P2L9 uc003gmz.1 uc003gmz.2 uc003gmz.3 Component of the fork protection machinery required to protect stalled/damaged replication forks from uncontrolled DNA2- dependent resection. Acts by stabilizing RAD51 at stalled replication forks and protecting RAD51 nucleofilaments from the antirecombinogenic activities of FBH1 and BLM (PubMed:26166705, PubMed:29937342). Does not regulate spindle orientation (PubMed:26166705). Interacts (via COMPASS-Shg1 domain) with SETD1A at stalled replication forks; this interaction mediates FANCD2-dependent nucleosome remodeling at reversed forks protecting them from nucleolytic degradation. Q8NFC6; P61964: WDR5; NbExp=4; IntAct=EBI-2654318, EBI-540834; Chromosome Note=Localizes at replication forks: following DNA damage, localizes to damaged replication forks undergoing resection. Belongs to the BOD1 family. Sequence=AAH16987.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAB15299.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; Sequence=CAB70705.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; spindle pole condensed chromosome outer kinetochore protein phosphatase inhibitor activity nucleoplasm chromosome centrosome spindle microtubule DNA repair cellular response to DNA damage stimulus replication fork processing negative regulation of phosphoprotein phosphatase activity protein phosphatase 2A binding uc003gmz.1 uc003gmz.2 uc003gmz.3 
ENST00000040877.2 TARBP1 ENST00000040877.2 Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA. (from RefSeq NM_005646) ENST00000040877.1 NM_005646 Q13395 Q9H581 TARB1_HUMAN TRM3 TRP185 uc001hwd.1 uc001hwd.2 uc001hwd.3 uc001hwd.4 HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined. [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 :: U38847.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000040877.2/ ENSP00000040877.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Probable S-adenosyl-L-methionine-dependent methyltransferase which methylates RNA molecules such as tRNAs. (Microbial infection) In case of infection by HIV-1, it binds to the loop region of TAR RNA, a region also bound by RNA polymerase II (PubMed:7638159, PubMed:8626763, PubMed:8846792). Binding of TARBP1 and RNA polymerase II to HIV-1 TAR RNA is mutually exclusive, suggesting that TARBP1 may function alone or in conjunction with HIV-1 Tat to disengage RNA polymerase II from HIV-1 TAR RNA (PubMed:7638159, PubMed:8626763, PubMed:8846792). Monomer and homodimer. Belongs to the class IV-like SAM-binding methyltransferase superfamily. RNA methyltransferase TrmH family. RNA binding nucleus regulation of transcription from RNA polymerase II promoter RNA processing methyltransferase activity RNA methyltransferase activity tRNA (guanine) methyltransferase activity transferase activity tRNA methylation methylation uc001hwd.1 uc001hwd.2 uc001hwd.3 uc001hwd.4 
ENST00000042381.9 RIPOR1 ENST00000042381.9 Homo sapiens RHO family interacting cell polarization regulator 1 (RIPOR1), transcript variant 1, mRNA. (from RefSeq NM_024519) B4DEQ9 B4DIM2 E9PBS3 ENST00000042381.1 ENST00000042381.2 ENST00000042381.3 ENST00000042381.4 ENST00000042381.5 ENST00000042381.6 ENST00000042381.7 ENST00000042381.8 FAM65A KIAA1930 NM_024519 Q4G0A4 Q6ZS17 Q7Z5R7 Q8NDA4 Q96J39 Q96PV8 Q9H8D9 RIPR1_HUMAN uc002eth.1 uc002eth.2 uc002eth.3 uc002eth.4 uc002eth.5 Downstream effector protein for Rho-type small GTPases that plays a role in cell polarity and directional migration (PubMed:27807006). Acts as an adapter protein, linking active Rho proteins to STK24 and STK26 kinases, and hence positively regulates Golgi reorientation in polarized cell migration upon Rho activation (PubMed:27807006). Involved in the subcellular relocation of STK26 from the Golgi to cytoplasm punctae in a Rho- and PDCD10-dependent manner upon serum stimulation (PubMed:27807006). Interacts (via N-terminus) with RHOA (GTP-bound form); this interaction links active RHOA to STK24 and STK26 kinases (PubMed:27807006). Interacts with RHOB (PubMed:27807006). Interacts with RHOC (PubMed:27807006). Interacts (via C-terminus) with PDCD10; this interaction occurs in a Rho-independent manner (PubMed:27807006). Interacts (via C-terminus) with STK24; this interaction occurs in a PDCD10-dependent and Rho-independent manner (PubMed:27807006). Interacts (via C-terminus) with STK26; this interaction occurs in a PDCD10-dependent and Rho-independent manner (PubMed:27807006). Interacts (via N-terminus) with 14-3-3 proteins; these interactions occur in a Rho-dependent manner (PubMed:27807006). Cytoplasm Golgi apparatus Note=Localizes to the podocyte major processes and cell body (By similarity). Colocalized with STK26 in the Golgi of serum-starved cells and relocated to cytoplasmic punctae, probably vesicular compartments, along with STK26 upon serum stimulation in a Rho- and PDCD10-dependent manner (PubMed:27807006). Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q6ZS17-1; Sequence=Displayed; Name=2; IsoId=Q6ZS17-2; Sequence=VSP_025903; Name=3; IsoId=Q6ZS17-3; Sequence=VSP_043315, VSP_025903; Name=4; IsoId=Q6ZS17-4; Sequence=VSP_045002, VSP_025903; Belongs to the RIPOR family. Sequence=BAB14678.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence=; Sequence=BAB67823.1; Type=Frameshift; Evidence=; protein binding cytoplasm Golgi apparatus Rho protein signal transduction cellular response to starvation response to wounding vesicle membrane membrane positive regulation of cell migration cell leading edge protein localization to Golgi apparatus negative regulation of Rho protein signal transduction establishment of Golgi localization extracellular exosome 14-3-3 protein binding positive regulation of intracellular protein transport cellular response to chemokine negative regulation of Rho guanyl-nucleotide exchange factor activity uc002eth.1 uc002eth.2 uc002eth.3 uc002eth.4 uc002eth.5 
ENST00000043402.8 RTN4R ENST00000043402.8 Homo sapiens reticulon 4 receptor (RTN4R), mRNA. (from RefSeq NM_023004) D3DX28 ENST00000043402.1 ENST00000043402.2 ENST00000043402.3 ENST00000043402.4 ENST00000043402.5 ENST00000043402.6 ENST00000043402.7 NM_023004 NOGOR Q9BZR6 RTN4R_HUMAN UNQ330/PRO526 uc002zrv.1 uc002zrv.2 uc002zrv.3 uc002zrv.4 uc002zrv.5 This gene encodes the receptor for reticulon 4, oligodendrocyte myelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central 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 :: AL834449.1, ERR279866.1216.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968189, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000043402.8/ ENSP00000043402.7 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for RTN4, OMG and MAG (PubMed:12037567, PubMed:12068310, PubMed:12426574, PubMed:12089450, PubMed:16712417, PubMed:18411262, PubMed:12839991, PubMed:19052207). Functions as a receptor for the sialylated gangliosides GT1b and GM1 (PubMed:18411262). Besides, functions as a receptor for chondroitin sulfate proteoglycans (By similarity). Can also bind heparin (By similarity). Intracellular signaling cascades are triggered via the coreceptor NGFR (PubMed:12426574). Signaling mediates activation of Rho and downstream reorganization of the actin cytoskeleton (PubMed:16712417, PubMed:22325200). Mediates axonal growth inhibition (PubMed:12839991, PubMed:19052207, PubMed:28892071). Plays a role in regulating axon regeneration and neuronal plasticity in the adult central nervous system. Plays a role in postnatal brain development. Required for normal axon migration across the brain midline and normal formation of the corpus callosum. Protects motoneurons against apoptosis; protection against apoptosis is probably mediated via interaction with MAG. Acts in conjunction with RTN4 and LINGO1 in regulating neuronal precursor cell motility during cortical development. Like other family members, plays a role in restricting the number dendritic spines and the number of synapses that are formed during brain development (PubMed:22325200). Homodimer (PubMed:18411262). Interacts with MAG (PubMed:12089450, PubMed:12839991, PubMed:18411262, PubMed:19052207). Interacts with RTN4 (PubMed:12839991, PubMed:19052207). Interacts with NGFR (PubMed:12426574, PubMed:18411262, PubMed:19052207). Interacts with LINGO1 (PubMed:14966521, PubMed:19052207). Interacts with KIAA0319L (PubMed:20697954). Interacts with OLFM1; this inhibits interaction with LINGO1 and NGFR (By similarity). Interacts with OMG (PubMed:12068310, PubMed:12839991, PubMed:19052207). Q9BZR6; P49639: HOXA1; NbExp=3; IntAct=EBI-5240240, EBI-740785; Q9BZR6; Q8IZA0: KIAA0319L; NbExp=4; IntAct=EBI-5240240, EBI-5240269; Q9BZR6; P32242: OTX1; NbExp=3; IntAct=EBI-5240240, EBI-740446; Cell membrane ipid- anchor, GPI-anchor Membrane raft Cell projection, dendrite Cell projection, axon Perikaryon Note=Detected along dendrites and axons, close to synapses, but clearly excluded from synapses. Widespread in the brain but highest levels in the gray matter. Low levels in heart and kidney; not expressed in oligodendrocytes (white matter). N-glycosylated. O-glycosylated. Contains terminal sialic acid groups on its glycan chains. Schizophrenia (SCZD) [MIM:181500]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. te=Disease susceptibility is associated with variants affecting the gene represented in this entry. Belongs to the Nogo receptor family. Name=Protein Spotlight; Note=Nerve regrowth: nipped by a no-go - Issue 69 of April 2006; URL="https://web.expasy.org/spotlight/back_issues/069"; protein binding endoplasmic reticulum plasma membrane integral component of plasma membrane cell surface receptor signaling pathway axonogenesis heparin binding lipid binding cell surface negative regulation of neuron projection development membrane corpus callosum development neuronal signal transduction axon dendrite growth cone negative regulation of axon extension anchored component of membrane anchored component of external side of plasma membrane positive regulation of Rho protein signal transduction chondroitin sulfate binding signaling receptor activity neuregulin receptor activity cell projection neuron projection neuronal cell body dendritic shaft perikaryon positive regulation of GTPase activity axonal growth cone macromolecular complex binding membrane raft negative regulation of axon regeneration negative regulation of axonogenesis extracellular exosome presynapse glutamatergic synapse ganglioside GM1 binding ganglioside GT1b binding uc002zrv.1 uc002zrv.2 uc002zrv.3 uc002zrv.4 uc002zrv.5 
ENST00000044462.12 PSMA4 ENST00000044462.12 Homo sapiens proteasome 20S subunit alpha 4 (PSMA4), transcript variant 1, mRNA. (from RefSeq NM_002789) D3DW86 ENST00000044462.1 ENST00000044462.10 ENST00000044462.11 ENST00000044462.2 ENST00000044462.3 ENST00000044462.4 ENST00000044462.5 ENST00000044462.6 ENST00000044462.7 ENST00000044462.8 ENST00000044462.9 HC9 NM_002789 P25789 PSA4_HUMAN PSC9 Q53XP2 Q567Q5 Q8TBD1 uc002bdu.1 uc002bdu.2 uc002bdu.3 uc002bdu.4 uc002bdu.5 uc002bdu.6 This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [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 :: SRR1803615.40060.1, SRR1803615.115885.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000044462.12/ ENSP00000044462.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## 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. (Microbial infection) Interaction with HTLV-1 TAX protein favors NFKB1 activation. P25789; P54253: ATXN1; NbExp=7; IntAct=EBI-359310, EBI-930964; P25789; Q9H257-2: CARD9; NbExp=3; IntAct=EBI-359310, EBI-11530605; P25789; Q08379: GOLGA2; NbExp=3; IntAct=EBI-359310, EBI-618309; P25789; Q16665: HIF1A; NbExp=4; IntAct=EBI-359310, EBI-447269; P25789; P42858: HTT; NbExp=4; IntAct=EBI-359310, EBI-466029; P25789; Q13422: IKZF1; NbExp=3; IntAct=EBI-359310, EBI-745305; P25789; Q13422-7: IKZF1; NbExp=3; IntAct=EBI-359310, EBI-11522367; P25789; P25786: PSMA1; NbExp=7; IntAct=EBI-359310, EBI-359352; P25789; P25787: PSMA2; NbExp=8; IntAct=EBI-359310, EBI-603262; P25789; P25788: PSMA3; NbExp=4; IntAct=EBI-359310, EBI-348380; P25789; P60900: PSMA6; NbExp=5; IntAct=EBI-359310, EBI-357793; P25789; O14818: PSMA7; NbExp=11; IntAct=EBI-359310, EBI-603272; P25789; Q04864-2: REL; NbExp=3; IntAct=EBI-359310, EBI-10829018; P25789; Q9UBB9: TFIP11; NbExp=3; IntAct=EBI-359310, EBI-1105213; P25789; O00635: TRIM38; NbExp=3; IntAct=EBI-359310, EBI-2130415; P25789; Q99PV5: Bhlhe41; Xeno; NbExp=2; IntAct=EBI-359310, EBI-6143801; Cytoplasm cleus te=Translocated from the cytoplasm into the nucleus following interaction with AKIRIN2, which bridges the proteasome with the nuclear import receptor IPO9 (PubMed:34711951). Colocalizes with TRIM5 in the cytoplasmic bodies (By similarity). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P25789-1; Sequence=Displayed; Name=2; IsoId=P25789-2; Sequence=VSP_043102; Down-regulated by antioxidants BO-653 and probucol. Belongs to the peptidase T1A family. MAPK cascade protein polyubiquitination proteasome complex P-body stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent endopeptidase activity threonine-type endopeptidase activity protein binding nucleus nucleoplasm cytoplasm cytosol proteasome core complex proteolysis ubiquitin-dependent protein catabolic process regulation of cellular amino acid metabolic process peptidase activity proteasomal protein catabolic process proteasomal ubiquitin-independent protein catabolic process negative regulation of G2/M transition of mitotic cell cycle viral process protein deubiquitination hydrolase activity proteasome core complex, alpha-subunit complex anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process tumor necrosis factor-mediated signaling pathway NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway proteasome-mediated ubiquitin-dependent protein catabolic process intracellular membrane-bounded organelle regulation of mRNA stability post-translational protein modification T cell receptor signaling pathway proteolysis involved in cellular protein catabolic process transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia extracellular exosome interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation uc002bdu.1 uc002bdu.2 uc002bdu.3 uc002bdu.4 uc002bdu.5 uc002bdu.6 
ENST00000046087.7 ZPBP ENST00000046087.7 Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA. (from RefSeq NM_007009) A4D253 C9JPU1 ENST00000046087.1 ENST00000046087.2 ENST00000046087.3 ENST00000046087.4 ENST00000046087.5 ENST00000046087.6 NM_007009 Q15941 Q75KX9 Q75MI3 Q9BS86 ZPBP1 ZPBP1_HUMAN uc003tou.1 uc003tou.2 uc003tou.3 uc003tou.4 uc003tou.5 ZPBP is one of several proteins that are thought to participate in secondary binding between acrosome-reacted sperm and the egg-specific extracellular matrix, the zona pellucida (McLeskey et al., 1998 [PubMed 9378618]).[supplied by OMIM, Aug 2008]. Plays a role in acrosome compaction and sperm morphogenesis (PubMed:21911476). Is implicated in sperm-oocyte interaction during fertilization (By similarity). Cytoplasmic vesicle, secretory vesicle, acrosome Cytoplasmic vesicle, secretory vesicle, acrosome membrane ; Peripheral membrane protein Secreted Note=First localized in acrosome granule, later migrates to the inner and outer acrosomal membrane. Released after the acrosomal reaction. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BS86-1; Sequence=Displayed; Name=2; IsoId=Q9BS86-2; Sequence=VSP_045491; Expressed specifically in testis. N-glycosylated. Spermatogenic failure 66 (SPGF66) [MIM:619799]: An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia. te=The disease may be caused by variants affecting the gene represented in this entry. Belongs to the zona pellucida-binding protein Sp38 family. Sequence=AAS07517.1; Type=Erroneous initiation; Evidence=; acrosomal membrane extracellular region nucleus binding of sperm to zona pellucida membrane cytoplasmic vesicle uc003tou.1 uc003tou.2 uc003tou.3 uc003tou.4 uc003tou.5 
ENST00000046640.9 CTNS ENST00000046640.9 Homo sapiens cystinosin, lysosomal cystine transporter (CTNS), transcript variant 2, mRNA. (from RefSeq NM_004937) CTNS CTNS_HUMAN D3DTJ5 ENST00000046640.1 ENST00000046640.2 ENST00000046640.3 ENST00000046640.4 ENST00000046640.5 ENST00000046640.6 ENST00000046640.7 ENST00000046640.8 NM_004937 O60931 Q8IZ01 Q9UNK6 uc002fwb.1 uc002fwb.2 uc002fwb.3 uc002fwb.4 uc002fwb.5 This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]. Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes (PubMed:11689434, PubMed:18337546, PubMed:22232659, PubMed:29467429, PubMed:33208952, PubMed:15128704, PubMed:36113465). Plays an important role in melanin synthesis by catalyzing cystine export from melanosomes, possibly by inhibiting pheomelanin synthesis (PubMed:22649030). In addition to cystine export, also acts as a positive regulator of mTORC1 signaling in kidney proximal tubular cells, via interactions with components of the v-ATPase and Ragulator complexes (PubMed:36113465). Also involved in small GTPase-regulated vesicle trafficking and lysosomal localization of LAMP2A, independently of cystine transporter activity (By similarity). 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= [Isoform 1]: 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=; [Isoform 2]: 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=; Switches between a lumen- and a cytosol-open conformation: pH induces conformational changes and shifts the equilibrium to facilitate the transition between the lumen- and cytosol-open conformation, thereby promoting cystine transport (PubMed:36113465). Protonation of specific aspartate residues (Asp-205, Asp-305 and Asp-346) favors the cytosol-open conformation (PubMed:36113465). Kinetic parameters: KM=75 uM for cystine (at pH 5.0) ; KM=278 uM for cystine ; Interacts with components of the V-ATPase complex (By similarity). Interacts with components of the Ragulator complex (PubMed:36113465). Interacts with RRAGA/RagA and RRAGC/RagC (By similarity). Interacts with AP-3 complex subunit mu (AP3M1 or AP3M2) (PubMed:25753619). O60931-2; Q14749: GNMT; NbExp=3; IntAct=EBI-19888994, EBI-744239; [Isoform 1]: Lysosome membrane ulti-pass membrane protein Melanosome membrane ; Multi-pass membrane protein Note=AP-3 complex is required for localization to the lysosome. [Isoform 2]: Lysosome membrane ; Multi-pass membrane protein Cell membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O60931-1; Sequence=Displayed; Name=2; Synonyms=cystinosin-LKG ; IsoId=O60931-2; Sequence=VSP_038377; Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes (PubMed:22649030). Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal) (PubMed:22649030). [Isoform 2]: Represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions. The lysosomal targeting motif, together with the second PQ-loop mediate targeting to the lysosome. Cystinosis, nephropathic type (CTNS) [MIM:219800]: A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications. te=The disease is caused by variants affecting the gene represented in this entry. Cystinosis, adult, non-nephropathic type (CTNSANN) [MIM:219750]: A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benign course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals. Note=The disease is caused by variants affecting the gene represented in this entry. Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]: A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis is an intermediated form, manifesting first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features. te=The disease is caused by variants affecting the gene represented in this entry. Belongs to the cystinosin family. lens development in camera-type eye lysosome lysosomal membrane late endosome vacuolar membrane plasma membrane cellular amino acid metabolic process glutathione metabolic process ion transport brain development long-term memory grooming behavior adult walking behavior visual learning 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 melanin biosynthetic process melanosome intracellular membrane-bounded organelle intermediate filament cytoskeleton ATP metabolic process cognition transmembrane transport extracellular exosome negative regulation of reactive oxygen species biosynthetic process early endosome uc002fwb.1 uc002fwb.2 uc002fwb.3 uc002fwb.4 uc002fwb.5 
ENST00000046794.10 LCP2 ENST00000046794.10 Homo sapiens lymphocyte cytosolic protein 2 (LCP2), mRNA. (from RefSeq NM_005565) A8KA25 ENST00000046794.1 ENST00000046794.2 ENST00000046794.3 ENST00000046794.4 ENST00000046794.5 ENST00000046794.6 ENST00000046794.7 ENST00000046794.8 ENST00000046794.9 LCP2_HUMAN NM_005565 Q13094 Q53XV4 uc003man.1 uc003man.2 uc003man.3 This gene encodes an adapter protein that acts as a substrate of the T cell antigen receptor (TCR)-activated protein tyrosine kinase pathway. The encoded protein associates with growth factor receptor bound protein 2, and is thought to play a role TCR-mediated intracellular signal transduction. A similar protein in mouse plays a role in normal T-cell development and activation. Mice lacking this gene show subcutaneous and intraperitoneal fetal hemorrhaging, dysfunctional platelets and impaired viability. [provided by RefSeq, Nov 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 :: BC016618.1, SRR1163658.196053.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000046794.10/ ENSP00000046794.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in T-cell antigen receptor mediated signaling. Interacts with SLA. Interacts with CBLB (By similarity). Interacts with GRB2 (PubMed:7706237). Interacts with SHB (PubMed:12084069). Interacts with PRAM1 (PubMed:11301322). Interacts (via SH2 domain) with CD6 (via tyrosine phosphorylated C-terminus) (PubMed:16914752, PubMed:24584089). Interacts with FYB1 and the phosphorylated form of FYB2 (PubMed:27335501). Q13094; P30203: CD6; NbExp=3; IntAct=EBI-346946, EBI-2873748; Q13094; P00533: EGFR; NbExp=3; IntAct=EBI-346946, EBI-297353; Q13094; Q9H5J4: ELOVL6; NbExp=3; IntAct=EBI-346946, EBI-12821617; Q13094; P51116: FXR2; NbExp=7; IntAct=EBI-346946, EBI-740459; Q13094; O15117: FYB1; NbExp=9; IntAct=EBI-346946, EBI-1753267; Q13094; Q08379: GOLGA2; NbExp=6; IntAct=EBI-346946, EBI-618309; Q13094; O75791: GRAP2; NbExp=40; IntAct=EBI-346946, EBI-740418; Q13094; P62993: GRB2; NbExp=18; IntAct=EBI-346946, EBI-401755; Q13094; Q08881: ITK; NbExp=3; IntAct=EBI-346946, EBI-968552; Q13094; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-346946, EBI-739832; Q13094; Q8IVH8: MAP4K3; NbExp=5; IntAct=EBI-346946, EBI-1758170; Q13094; P16333: NCK1; NbExp=21; IntAct=EBI-346946, EBI-389883; Q13094; O43639: NCK2; NbExp=10; IntAct=EBI-346946, EBI-713635; Q13094; P19174: PLCG1; NbExp=3; IntAct=EBI-346946, EBI-79387; Q13094; Q92783: STAM; NbExp=3; IntAct=EBI-346946, EBI-752333; Q13094; O75886: STAM2; NbExp=9; IntAct=EBI-346946, EBI-373258; Q13094; P15498: VAV1; NbExp=9; IntAct=EBI-346946, EBI-625518; Q13094; O89100: Grap2; Xeno; NbExp=4; IntAct=EBI-346946, EBI-642151; Q13094; Q99JP0: Map4k3; Xeno; NbExp=2; IntAct=EBI-346946, EBI-5324222; Q13094; P08487: PLCG1; Xeno; NbExp=5; IntAct=EBI-346946, EBI-8013886; Cytoplasm Highly expressed in spleen, thymus and peripheral blood leukocytes. Highly expressed also in T-cell and monocytic cell lines, expressed at lower level in B-cell lines. Not detected in fibroblast or neuroblastoma cell lines. The SH2 domain mediates interaction with phosphorylated CD6 (PubMed:16914752). The SH2 domain mediates interaction with SHB (PubMed:12084069). Phosphorylated after T-cell receptor activation by ZAP70, ITK and TXK, which leads to the up-regulation of Th1 preferred cytokine IL-2. SYK-dependent phosphorylation is required for recruitment of PI3K signaling components. Immunodeficiency 81 (IMD81) [MIM:619374]: An autosomal recessive disorder characterized by recurrent infections, including fungal infections, associated with T cell, neutrophil, and NK cell dysfunction. B cells may also show maturation abnormalities. Other features include autoimmune hemolytic anemia and abnormal platelet aggregation. Note=The disease is caused by variants affecting the gene represented in this entry. protein binding cytoplasm cytosol cell-cell junction immune response transmembrane receptor protein tyrosine kinase signaling pathway platelet activation intracellular signal transduction TCR signalosome Fc-epsilon receptor signaling pathway plasma membrane raft mast cell activation positive regulation of protein kinase activity cytokine secretion T cell receptor signaling pathway uc003man.1 uc003man.2 uc003man.3 
ENST00000052754.10 DCN ENST00000052754.10 Homo sapiens decorin (DCN), transcript variant A2, mRNA. (from RefSeq NM_133503) DCN DKFZp686J19238 ENST00000052754.1 ENST00000052754.2 ENST00000052754.3 ENST00000052754.4 ENST00000052754.5 ENST00000052754.6 ENST00000052754.7 ENST00000052754.8 ENST00000052754.9 NM_133503 Q6FH10 Q6FH10_HUMAN hCG_24110 uc001tbu.1 uc001tbu.2 uc001tbu.3 uc001tbu.4 uc001tbu.5 This gene encodes a member of the small leucine-rich proteoglycan family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protein. This protein plays a role in collagen fibril assembly. Binding of this protein to multiple cell surface receptors mediates its role in tumor suppression, including a stimulatory effect on autophagy and inflammation and an inhibitory effect on angiogenesis and tumorigenesis. This gene and the related gene biglycan are thought to be the result of a gene duplication. Mutations in this gene are associated with congenital stromal corneal dystrophy in human patients. [provided by RefSeq, Nov 2015]. May affect the rate of fibrils formation. Binds to type I and type II collagen, fibronectin and TGF- beta. Forms a ternary complex with MFAP2 and ELN. Interacts with DPT. Secreted, extracellular space, extracellular matrix Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily. kidney development placenta development collagen binding glycosaminoglycan binding extracellular region collagen type VI trimer skeletal muscle tissue development aging response to mechanical stimulus positive regulation of autophagy peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan extracellular matrix structural constituent conferring compression resistance extracellular matrix response to lipopolysaccharide wound healing protein N-terminus binding extracellular matrix binding uc001tbu.1 uc001tbu.2 uc001tbu.3 uc001tbu.4 uc001tbu.5 
ENST00000053243.6 TNFRSF17 ENST00000053243.6 Homo sapiens TNF receptor superfamily member 17 (TNFRSF17), mRNA. (from RefSeq NM_001192) BCM BCMA ENST00000053243.1 ENST00000053243.2 ENST00000053243.3 ENST00000053243.4 ENST00000053243.5 NM_001192 Q02223 Q2TQ40 TNR17_HUMAN uc002dbv.1 uc002dbv.2 uc002dbv.3 uc002dbv.4 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is preferentially expressed in mature B lymphocytes, and may be important for B cell development and autoimmune response. This receptor has been shown to specifically bind to the tumor necrosis factor (ligand) superfamily, member 13b (TNFSF13B/TALL-1/BAFF), and to lead to NF-kappaB and MAPK8/JNK activation. This receptor also binds to various TRAF family members, and thus may transduce signals for cell survival and proliferation. [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 :: SRR1163658.304475.1, BC058291.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000053243.6/ ENSP00000053243.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor for TNFSF13B/BLyS/BAFF and TNFSF13/APRIL. Promotes B-cell survival and plays a role in the regulation of humoral immunity. Activates NF-kappa-B and JNK. Associates with TRAF1, TRAF2, TRAF3, TRAF5 and TRAF6. Q02223; Q96FZ5: CMTM7; NbExp=3; IntAct=EBI-519945, EBI-2807956; Q02223; Q9Y5Y5: PEX16; NbExp=3; IntAct=EBI-519945, EBI-981985; Q02223; P55061: TMBIM6; NbExp=3; IntAct=EBI-519945, EBI-1045825; Cell membrane; Single-pass type III membrane protein. Endomembrane system; Single-pass type III membrane protein. Note=Perinuclear Golgi-like structures. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q02223-1; Sequence=Displayed; Name=2; Synonyms=TV4; IsoId=Q02223-2; Sequence=VSP_047678; Expressed in mature B-cells, but not in T-cells or monocytes. Note=A chromosomal aberration involving TNFRSF17 is found in a form of T-cell acute lymphoblastic leukemia (T-ALL). Translocation t(4;16)(q26;p13) with IL2. [Isoform 2]: Observed only in some CD19+ cell. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/tnfrsf17/"; adaptive immune response lymphocyte homeostasis immune system process plasma membrane signal transduction multicellular organism development endomembrane system membrane integral component of membrane tumor necrosis factor-mediated signaling pathway signaling receptor activity uc002dbv.1 uc002dbv.2 uc002dbv.3 uc002dbv.4 
ENST00000053468.4 MRPS10 ENST00000053468.4 Homo sapiens mitochondrial ribosomal protein S10 (MRPS10), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_018141) B2RE89 ENST00000053468.1 ENST00000053468.2 ENST00000053468.3 MSTP040 NM_018141 P82664 Q9H3E5 Q9NVR3 RT10_HUMAN uc003osa.1 uc003osa.2 uc003osa.3 uc003osa.4 uc003osa.5 uc003osa.6 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S10P family. Pseudogenes corresponding to this gene are found on chromosomes 1q, 3p, and 9p. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.110737.1, SRR1803613.110112.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000053468.4/ ENSP00000053468.3 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Component of the mitochondrial small ribosomal subunit (mt- SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. Mitochondrion Belongs to the universal ribosomal protein uS10 family. molecular_function mitochondrion mitochondrial inner membrane mitochondrial small ribosomal subunit ribosome biological_process mitochondrial translational elongation mitochondrial translational termination uc003osa.1 uc003osa.2 uc003osa.3 uc003osa.4 uc003osa.5 uc003osa.6 
ENST00000053867.8 GRN ENST00000053867.8 Homo sapiens granulin precursor (GRN), mRNA. (from RefSeq NM_002087) D3DX55 ENST00000053867.1 ENST00000053867.2 ENST00000053867.3 ENST00000053867.4 ENST00000053867.5 ENST00000053867.6 ENST00000053867.7 GRN GRN_HUMAN NM_002087 P23781 P23782 P23783 P23784 P28799 Q53HQ8 Q53Y88 Q540U8 Q9BWE7 Q9H8S1 Q9UCH0 uc002igp.1 uc002igp.2 uc002igp.3 uc002igp.4 Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [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 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 :: X62320.1, AK000607.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000053867.8/ ENSP00000053867.2 RefSeq Select criteria :: based on manual assertion, conservation, expression, longest protein regulatory uORF :: PMID: 25056957 ##RefSeq-Attributes-END## Secreted protein that acts as a key regulator of lysosomal function and as a growth factor involved in inflammation, wound healing and cell proliferation (PubMed:28541286, PubMed:28073925, PubMed:18378771, PubMed:28453791, PubMed:12526812). Regulates protein trafficking to lysosomes and, also the activity of lysosomal enzymes (PubMed:28453791, PubMed:28541286). Facilitates also the acidification of lysosomes, causing degradation of mature CTSD by CTSB (PubMed:28073925). In addition, functions as a wound-related growth factor that acts directly on dermal fibroblasts and endothelial cells to promote division, migration and the formation of capillary-like tubule structures (By similarity). Also promotes epithelial cell proliferation by blocking TNF-mediated neutrophil activation preventing release of oxidants and proteases (PubMed:12526812). Moreover, modulates inflammation in neurons by preserving neurons survival, axonal outgrowth and neuronal integrity (PubMed:18378771). [Granulin-4]: Promotes proliferation of the epithelial cell line A431 in culture. [Granulin-3]: Inhibits epithelial cell proliferation and induces epithelial cells to secrete IL-8. [Granulin-7]: Stabilizes CTSD through interaction with CTSD leading to maintain its aspartic-type peptidase activity. Progranulin is secreted as a homodimer (PubMed:23364791). Interacts with SLPI; interaction protects progranulin from proteolysis (PubMed:12526812). Interacts (via region corresponding to granulin-7 peptide) with CTSD; stabilizes CTSD and increases its proteolytic activity (PubMed:28453791). Interacts (via region corresponding to granulin-7 peptide) with SORT1; this interaction mediates endocytosis and lysosome delivery of progranulin; interaction occurs at the neuronal cell surface in a stressed nervous system (PubMed:21092856). Interacts with PSAP; facilitates lysosomal delivery of progranulin from the extracellular space and the biosynthetic pathway (PubMed:26370502). Forms a complex with PSAP and M6PR; PSAP bridges the binding between progranulin and M6PR (PubMed:26370502). Forms a complex with PSAP and SORT1; progranulin bridges the interaction between PSAP and SORT1; facilitates lysosomal targeting of PSAP via SORT1; interaction enhances PSAP uptake in primary cortical neurons (PubMed:28541286). Interacts (via regions corresponding to granulin-2 and granulin-7 peptides) with GBA1; this interaction prevents aggregation of GBA1-SCARB2 complex via interaction with HSPA1A upon stress (PubMed:27789271). Interacts (via region corresponding to granulin-7 peptide) with HSPA1A; mediates recruitment of HSPA1A to GBA1 and prevents GBA1 aggregation in response to stress (PubMed:27789271). P28799; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-747754, EBI-10173507; P28799; Q9UIJ7: AK3; NbExp=3; IntAct=EBI-747754, EBI-3916527; P28799; Q9NYG5: ANAPC11; NbExp=3; IntAct=EBI-747754, EBI-2130187; P28799; D3DTF8: APLN; NbExp=3; IntAct=EBI-747754, EBI-22002556; P28799; Q8N6T3: ARFGAP1; NbExp=3; IntAct=EBI-747754, EBI-716933; P28799; Q8N6T3-3: ARFGAP1; NbExp=3; IntAct=EBI-747754, EBI-10694449; P28799; Q9Y575-3: ASB3; NbExp=3; IntAct=EBI-747754, EBI-14199987; P28799; Q96DX5-3: ASB9; NbExp=3; IntAct=EBI-747754, EBI-25843552; P28799; Q6XD76: ASCL4; NbExp=3; IntAct=EBI-747754, EBI-10254793; P28799; Q96FT7-4: ASIC4; NbExp=3; IntAct=EBI-747754, EBI-9089489; P28799; P46379-2: BAG6; NbExp=3; IntAct=EBI-747754, EBI-10988864; P28799; Q16611: BAK1; NbExp=3; IntAct=EBI-747754, EBI-519866; P28799; Q8IXM2: BAP18; NbExp=3; IntAct=EBI-747754, EBI-4280811; P28799; Q14457: BECN1; NbExp=3; IntAct=EBI-747754, EBI-949378; P28799; Q96LC9: BMF; NbExp=3; IntAct=EBI-747754, EBI-3919268; P28799; Q9GZL8: BPESC1; NbExp=3; IntAct=EBI-747754, EBI-25861458; P28799; Q8WUW1: BRK1; NbExp=3; IntAct=EBI-747754, EBI-2837444; P28799; Q9Y297: BTRC; NbExp=3; IntAct=EBI-747754, EBI-307461; P28799; Q8TAB5: C1orf216; NbExp=3; IntAct=EBI-747754, EBI-747505; P28799; Q6P5X5: C22orf39; NbExp=3; IntAct=EBI-747754, EBI-7317823; P28799; Q6P5X5-2: C22orf39; NbExp=3; IntAct=EBI-747754, EBI-10692329; P28799; Q53FE4: C4orf17; NbExp=3; IntAct=EBI-747754, EBI-715110; P28799; Q9BRJ6: C7orf50; NbExp=3; IntAct=EBI-747754, EBI-751612; P28799; O00555: CACNA1A; NbExp=2; IntAct=EBI-747754, EBI-766279; P28799; Q96NX5: CAMK1G; NbExp=3; IntAct=EBI-747754, EBI-3920838; P28799; O75808: CAPN15; NbExp=3; IntAct=EBI-747754, EBI-6149008; P28799; Q8N5R6: CCDC33; NbExp=3; IntAct=EBI-747754, EBI-740841; P28799; P50750-2: CDK9; NbExp=3; IntAct=EBI-747754, EBI-12029902; P28799; O14646-2: CHD1; NbExp=3; IntAct=EBI-747754, EBI-10961487; P28799; Q9Y3D0: CIAO2B; NbExp=3; IntAct=EBI-747754, EBI-744045; P28799; Q99967: CITED2; NbExp=3; IntAct=EBI-747754, EBI-937732; P28799; Q9Y240: CLEC11A; NbExp=3; IntAct=EBI-747754, EBI-3957044; P28799; Q96DZ5: CLIP3; NbExp=3; IntAct=EBI-747754, EBI-12823145; P28799; Q16740: CLPP; NbExp=3; IntAct=EBI-747754, EBI-1056029; P28799; Q9BT09: CNPY3; NbExp=3; IntAct=EBI-747754, EBI-2835965; P28799; Q6PJW8-3: CNST; NbExp=3; IntAct=EBI-747754, EBI-25836090; P28799; Q9UNS2: COPS3; NbExp=3; IntAct=EBI-747754, EBI-350590; P28799; Q9UGL9: CRCT1; NbExp=3; IntAct=EBI-747754, EBI-713677; P28799; Q02930-3: CREB5; NbExp=3; IntAct=EBI-747754, EBI-10192698; P28799; Q49AN0: CRY2; NbExp=3; IntAct=EBI-747754, EBI-2212355; P28799; P01040: CSTA; NbExp=3; IntAct=EBI-747754, EBI-724303; P28799; P07339: CTSD; NbExp=4; IntAct=EBI-747754, EBI-2115097; P28799; P42830: CXCL5; NbExp=3; IntAct=EBI-747754, EBI-12175919; P28799; Q8TB03: CXorf38; NbExp=3; IntAct=EBI-747754, EBI-12024320; P28799; P00167: CYB5A; NbExp=3; IntAct=EBI-747754, EBI-1047284; P28799; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-747754, EBI-3867333; P28799; Q16643: DBN1; NbExp=5; IntAct=EBI-747754, EBI-351394; P28799; Q5TAQ9-2: DCAF8; NbExp=3; IntAct=EBI-747754, EBI-25842815; P28799; Q9P1A6-3: DLGAP2; NbExp=3; IntAct=EBI-747754, EBI-12019838; P28799; Q07687: DLX2; NbExp=3; IntAct=EBI-747754, EBI-3908234; P28799; Q9NQL9: DMRT3; NbExp=3; IntAct=EBI-747754, EBI-9679045; P28799; P49184: DNASE1L1; NbExp=3; IntAct=EBI-747754, EBI-20894690; P28799; Q16610: ECM1; NbExp=3; IntAct=EBI-747754, EBI-947964; P28799; O75530-2: EED; NbExp=3; IntAct=EBI-747754, EBI-11132357; P28799; O60841: EIF5B; NbExp=3; IntAct=EBI-747754, EBI-928530; P28799; Q6UXG2-3: ELAPOR1; NbExp=3; IntAct=EBI-747754, EBI-12920100; P28799; Q8TE68-3: EPS8L1; NbExp=3; IntAct=EBI-747754, EBI-21574901; P28799; Q9H6S3: EPS8L2; NbExp=3; IntAct=EBI-747754, EBI-3940939; P28799; O15540: FABP7; NbExp=3; IntAct=EBI-747754, EBI-10697159; P28799; Q9UNN5: FAF1; NbExp=3; IntAct=EBI-747754, EBI-718246; P28799; Q6SJ93: FAM111B; NbExp=3; IntAct=EBI-747754, EBI-6309082; P28799; Q96AQ9: FAM131C; NbExp=4; IntAct=EBI-747754, EBI-741921; P28799; Q5TZK3: FAM74A6; NbExp=3; IntAct=EBI-747754, EBI-10247271; P28799; Q5HYJ3-3: FAM76B; NbExp=6; IntAct=EBI-747754, EBI-11956087; P28799; Q17RN3: FAM98C; NbExp=3; IntAct=EBI-747754, EBI-5461838; P28799; Q8IZU1: FAM9A; NbExp=3; IntAct=EBI-747754, EBI-8468186; P28799; Q9NW38: FANCL; NbExp=3; IntAct=EBI-747754, EBI-2339898; P28799; Q53R41: FASTKD1; NbExp=3; IntAct=EBI-747754, EBI-3957005; P28799; Q8NFZ0: FBH1; NbExp=3; IntAct=EBI-747754, EBI-724767; P28799; Q9UBX5: FBLN5; NbExp=3; IntAct=EBI-747754, EBI-947897; P28799; P15976-2: GATA1; NbExp=3; IntAct=EBI-747754, EBI-9090198; P28799; P23769-2: GATA2; NbExp=3; IntAct=EBI-747754, EBI-21856389; P28799; Q9NXC2: GFOD1; NbExp=3; IntAct=EBI-747754, EBI-8799578; P28799; P10075: GLI4; NbExp=3; IntAct=EBI-747754, EBI-14061927; P28799; O76003: GLRX3; NbExp=9; IntAct=EBI-747754, EBI-374781; P28799; Q9Y223-2: GNE; NbExp=6; IntAct=EBI-747754, EBI-11975289; P28799; Q9HBQ8: GOLGA2P5; NbExp=3; IntAct=EBI-747754, EBI-22000587; P28799; Q7Z602: GPR141; NbExp=3; IntAct=EBI-747754, EBI-21649723; P28799; Q9Y4H4: GPSM3; NbExp=3; IntAct=EBI-747754, EBI-347538; P28799; O75409: H2AP; NbExp=3; IntAct=EBI-747754, EBI-6447217; P28799; Q6NXT2: H3-5; NbExp=3; IntAct=EBI-747754, EBI-2868501; P28799; P68431: H3C12; NbExp=3; IntAct=EBI-747754, EBI-79722; P28799; A8K0U2: hCG_2001421; NbExp=3; IntAct=EBI-747754, EBI-25843825; P28799; Q03014: HHEX; NbExp=3; IntAct=EBI-747754, EBI-747421; P28799; P49639: HOXA1; NbExp=18; IntAct=EBI-747754, EBI-740785; P28799; P09017: HOXC4; NbExp=3; IntAct=EBI-747754, EBI-3923226; P28799; P22692: IGFBP4; NbExp=3; IntAct=EBI-747754, EBI-2831948; P28799; Q14005-2: IL16; NbExp=3; IntAct=EBI-747754, EBI-17178971; P28799; Q9NXX0: ILF3; NbExp=3; IntAct=EBI-747754, EBI-743980; P28799; Q9UNL4: ING4; NbExp=3; IntAct=EBI-747754, EBI-2866661; P28799; Q8IXL9: IQCF2; NbExp=3; IntAct=EBI-747754, EBI-10238842; P28799; Q9Y6F6-3: IRAG1; NbExp=3; IntAct=EBI-747754, EBI-25840037; P28799; Q86U28: ISCA2; NbExp=3; IntAct=EBI-747754, EBI-10258659; P28799; Q14145: KEAP1; NbExp=3; IntAct=EBI-747754, EBI-751001; P28799; Q12756: KIF1A; NbExp=3; IntAct=EBI-747754, EBI-2679809; P28799; Q9UIH9: KLF15; NbExp=3; IntAct=EBI-747754, EBI-2796400; P28799; P57682: KLF3; NbExp=4; IntAct=EBI-747754, EBI-8472267; P28799; Q9Y2M5: KLHL20; NbExp=3; IntAct=EBI-747754, EBI-714379; P28799; O76011: KRT34; NbExp=3; IntAct=EBI-747754, EBI-1047093; P28799; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-747754, EBI-11959885; P28799; Q9BYS1: KRTAP1-5; NbExp=3; IntAct=EBI-747754, EBI-11741292; P28799; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-747754, EBI-10172290; P28799; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-747754, EBI-10171774; P28799; Q8IUC1: KRTAP11-1; NbExp=3; IntAct=EBI-747754, EBI-1052037; P28799; P59990: KRTAP12-1; NbExp=3; IntAct=EBI-747754, EBI-10210845; P28799; Q52LG2: KRTAP13-2; NbExp=3; IntAct=EBI-747754, EBI-11953846; P28799; Q3SY46: KRTAP13-3; NbExp=3; IntAct=EBI-747754, EBI-10241252; P28799; Q3LI76: KRTAP15-1; NbExp=3; IntAct=EBI-747754, EBI-11992140; P28799; Q3SYF9: KRTAP19-7; NbExp=3; IntAct=EBI-747754, EBI-10241353; P28799; Q6PEX3: KRTAP26-1; NbExp=8; IntAct=EBI-747754, EBI-3957672; P28799; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-747754, EBI-3958099; P28799; Q3LI64: KRTAP6-1; NbExp=3; IntAct=EBI-747754, EBI-12111050; P28799; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-747754, EBI-11962084; P28799; Q8IUC2: KRTAP8-1; NbExp=3; IntAct=EBI-747754, EBI-10261141; P28799; Q14847-2: LASP1; NbExp=3; IntAct=EBI-747754, EBI-9088686; P28799; O95447: LCA5L; NbExp=3; IntAct=EBI-747754, EBI-8473670; P28799; Q5T7P2: LCE1A; NbExp=3; IntAct=EBI-747754, EBI-11962058; P28799; Q5T7P3: LCE1B; NbExp=3; IntAct=EBI-747754, EBI-10245913; P28799; Q5T752: LCE1D; NbExp=3; IntAct=EBI-747754, EBI-11741311; P28799; Q5T753: LCE1E; NbExp=3; IntAct=EBI-747754, EBI-11955335; P28799; Q5TA79: LCE2A; NbExp=3; IntAct=EBI-747754, EBI-10246607; P28799; O14633: LCE2B; NbExp=3; IntAct=EBI-747754, EBI-11478468; P28799; Q5TA82: LCE2D; NbExp=3; IntAct=EBI-747754, EBI-10246750; P28799; Q5T5A8: LCE3C; NbExp=3; IntAct=EBI-747754, EBI-10245291; P28799; Q5T5B0: LCE3E; NbExp=3; IntAct=EBI-747754, EBI-10245456; P28799; Q5TA78: LCE4A; NbExp=4; IntAct=EBI-747754, EBI-10246358; P28799; Q9UPM6: LHX6; NbExp=3; IntAct=EBI-747754, EBI-10258746; P28799; Q68G74: LHX8; NbExp=3; IntAct=EBI-747754, EBI-8474075; P28799; A2RU56: LOC401296; NbExp=3; IntAct=EBI-747754, EBI-9088215; P28799; Q96JB6: LOXL4; NbExp=3; IntAct=EBI-747754, EBI-749562; P28799; Q14693: LPIN1; NbExp=3; IntAct=EBI-747754, EBI-5278370; P28799; Q6Q4G3-4: LVRN; NbExp=3; IntAct=EBI-747754, EBI-25862057; P28799; Q9UDY8-2: MALT1; NbExp=3; IntAct=EBI-747754, EBI-12056869; P28799; Q9GZQ8: MAP1LC3B; NbExp=3; IntAct=EBI-747754, EBI-373144; P28799; Q99683: MAP3K5; NbExp=3; IntAct=EBI-747754, EBI-476263; P28799; P61244-4: MAX; NbExp=3; IntAct=EBI-747754, EBI-25848049; P28799; O95243-2: MBD4; NbExp=3; IntAct=EBI-747754, EBI-6448717; P28799; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-747754, EBI-16439278; P28799; P41218: MNDA; NbExp=3; IntAct=EBI-747754, EBI-2829677; P28799; Q86VF5-3: MOGAT3; NbExp=3; IntAct=EBI-747754, EBI-25840143; P28799; Q9Y2R5: MRPS17; NbExp=3; IntAct=EBI-747754, EBI-1046443; P28799; O43196-4: MSH5; NbExp=3; IntAct=EBI-747754, EBI-25860238; P28799; Q8IXL7-2: MSRB3; NbExp=3; IntAct=EBI-747754, EBI-10699187; P28799; Q96A32: MYL11; NbExp=3; IntAct=EBI-747754, EBI-1390771; P28799; Q9NPC7: MYNN; NbExp=3; IntAct=EBI-747754, EBI-3446748; P28799; O15069: NACAD; NbExp=3; IntAct=EBI-747754, EBI-7108375; P28799; Q99608: NDN; NbExp=3; IntAct=EBI-747754, EBI-718177; P28799; Q9P032: NDUFAF4; NbExp=3; IntAct=EBI-747754, EBI-2606839; P28799; Q12986: NFX1; NbExp=3; IntAct=EBI-747754, EBI-2130062; P28799; Q8N5V2: NGEF; NbExp=3; IntAct=EBI-747754, EBI-718372; P28799; Q9UBE8: NLK; NbExp=7; IntAct=EBI-747754, EBI-366978; P28799; Q96AM0: NLRP1; NbExp=3; IntAct=EBI-747754, EBI-25860999; P28799; Q6IAD4: NOTCH1; NbExp=3; IntAct=EBI-747754, EBI-25860267; P28799; Q14995: NR1D2; NbExp=3; IntAct=EBI-747754, EBI-6144053; P28799; Q7Z417: NUFIP2; NbExp=10; IntAct=EBI-747754, EBI-1210753; P28799; O43482: OIP5; NbExp=3; IntAct=EBI-747754, EBI-536879; P28799; Q96FW1: OTUB1; NbExp=3; IntAct=EBI-747754, EBI-1058491; P28799; P32242: OTX1; NbExp=10; IntAct=EBI-747754, EBI-740446; P28799; Q15077: P2RY6; NbExp=3; IntAct=EBI-747754, EBI-10235794; P28799; P07237: P4HB; NbExp=4; IntAct=EBI-747754, EBI-395883; P28799; O75781-2: PALM; NbExp=3; IntAct=EBI-747754, EBI-16399860; P28799; Q9NR21-5: PARP11; NbExp=3; IntAct=EBI-747754, EBI-17159452; P28799; Q86SE9-2: PCGF5; NbExp=3; IntAct=EBI-747754, EBI-25861637; P28799; O15534: PER1; NbExp=3; IntAct=EBI-747754, EBI-2557276; P28799; Q96FX8: PERP; NbExp=3; IntAct=EBI-747754, EBI-17183069; P28799; Q96LB9: PGLYRP3; NbExp=3; IntAct=EBI-747754, EBI-12339509; P28799; Q9BWX1: PHF7; NbExp=3; IntAct=EBI-747754, EBI-4307517; P28799; A2BDE7: PHLDA1; NbExp=3; IntAct=EBI-747754, EBI-14084211; P28799; O75925: PIAS1; NbExp=3; IntAct=EBI-747754, EBI-629434; P28799; Q9BZM1: PLA2G12A; NbExp=3; IntAct=EBI-747754, EBI-3916751; P28799; Q58EX7-2: PLEKHG4; NbExp=3; IntAct=EBI-747754, EBI-21503705; P28799; Q6ZR37: PLEKHG7; NbExp=3; IntAct=EBI-747754, EBI-12891828; P28799; Q9Y342: PLLP; NbExp=3; IntAct=EBI-747754, EBI-3919291; P28799; Q8TBJ4: PLPPR1; NbExp=3; IntAct=EBI-747754, EBI-18063495; P28799; Q9H1D9: POLR3F; NbExp=3; IntAct=EBI-747754, EBI-710067; P28799; Q12837: POU4F2; NbExp=6; IntAct=EBI-747754, EBI-17236143; P28799; P09565: PP9974; NbExp=3; IntAct=EBI-747754, EBI-10196507; P28799; P54646: PRKAA2; NbExp=3; IntAct=EBI-747754, EBI-1383852; P28799; O43741: PRKAB2; NbExp=4; IntAct=EBI-747754, EBI-1053424; P28799; P11908: PRPS2; NbExp=3; IntAct=EBI-747754, EBI-4290895; P28799; P07602: PSAP; NbExp=5; IntAct=EBI-747754, EBI-716699; P28799; P40306: PSMB10; NbExp=3; IntAct=EBI-747754, EBI-603329; P28799; P28062-2: PSMB8; NbExp=3; IntAct=EBI-747754, EBI-372312; P28799; Q8TBK9: PTMA; NbExp=3; IntAct=EBI-747754, EBI-1056327; P28799; Q8WUK0: PTPMT1; NbExp=3; IntAct=EBI-747754, EBI-7199479; P28799; Q14671: PUM1; NbExp=3; IntAct=EBI-747754, EBI-948453; P28799; Q7Z7K5: PXN; NbExp=3; IntAct=EBI-747754, EBI-25841978; P28799; P47897: QARS1; NbExp=3; IntAct=EBI-747754, EBI-347462; P28799; Q96PK6: RBM14; NbExp=3; IntAct=EBI-747754, EBI-954272; P28799; Q96PM5-4: RCHY1; NbExp=3; IntAct=EBI-747754, EBI-21252376; P28799; Q8TCX5: RHPN1; NbExp=3; IntAct=EBI-747754, EBI-746325; P28799; Q9ULX5: RNF112; NbExp=3; IntAct=EBI-747754, EBI-25829984; P28799; Q8WVD3: RNF138; NbExp=3; IntAct=EBI-747754, EBI-749039; P28799; Q9UBS8: RNF14; NbExp=3; IntAct=EBI-747754, EBI-2130308; P28799; Q9H0X6: RNF208; NbExp=3; IntAct=EBI-747754, EBI-751555; P28799; P62244: RPS15A; NbExp=3; IntAct=EBI-747754, EBI-347895; P28799; Q66K80: RUSC1-AS1; NbExp=3; IntAct=EBI-747754, EBI-10248967; P28799; Q8N488: RYBP; NbExp=3; IntAct=EBI-747754, EBI-752324; P28799; Q969E2: SCAMP4; NbExp=3; IntAct=EBI-747754, EBI-4403649; P28799; P34741: SDC2; NbExp=3; IntAct=EBI-747754, EBI-1172957; P28799; P60896: SEM1; NbExp=3; IntAct=EBI-747754, EBI-79819; P28799; Q9NTN9-3: SEMA4G; NbExp=3; IntAct=EBI-747754, EBI-9089805; P28799; Q14141: SEPTIN6; NbExp=3; IntAct=EBI-747754, EBI-745901; P28799; Q13530: SERINC3; NbExp=3; IntAct=EBI-747754, EBI-1045571; P28799; O43765: SGTA; NbExp=7; IntAct=EBI-747754, EBI-347996; P28799; Q9NUL5-3: SHFL; NbExp=3; IntAct=EBI-747754, EBI-22000547; P28799; O60902-3: SHOX2; NbExp=3; IntAct=EBI-747754, EBI-9092164; P28799; Q9GZS3: SKIC8; NbExp=3; IntAct=EBI-747754, EBI-358545; P28799; O15198-2: SMAD9; NbExp=3; IntAct=EBI-747754, EBI-12273450; P28799; P49901: SMCP; NbExp=3; IntAct=EBI-747754, EBI-750494; P28799; Q9HCE7-2: SMURF1; NbExp=3; IntAct=EBI-747754, EBI-9845742; P28799; Q96DI7: SNRNP40; NbExp=3; IntAct=EBI-747754, EBI-538492; P28799; Q99523: SORT1; NbExp=3; IntAct=EBI-747754, EBI-1057058; P28799; A0A024R4B0: SPATA3; NbExp=3; IntAct=EBI-747754, EBI-14123856; P28799; Q6RVD6: SPATA8; NbExp=3; IntAct=EBI-747754, EBI-8635958; P28799; P20155: SPINK2; NbExp=3; IntAct=EBI-747754, EBI-10200479; P28799; Q8N865: SPMIP4; NbExp=3; IntAct=EBI-747754, EBI-10174456; P28799; Q7Z698: SPRED2; NbExp=3; IntAct=EBI-747754, EBI-7082156; P28799; O43597: SPRY2; NbExp=3; IntAct=EBI-747754, EBI-742487; P28799; Q9C004: SPRY4; NbExp=3; IntAct=EBI-747754, EBI-354861; P28799; Q6PJ21: SPSB3; NbExp=3; IntAct=EBI-747754, EBI-3937206; P28799; Q9UNE7: STUB1; NbExp=3; IntAct=EBI-747754, EBI-357085; P28799; Q8NBJ7: SUMF2; NbExp=3; IntAct=EBI-747754, EBI-723091; P28799; Q17RD7-3: SYT16; NbExp=3; IntAct=EBI-747754, EBI-25861603; P28799; Q5VWN6: TASOR2; NbExp=3; IntAct=EBI-747754, EBI-745958; P28799; P17735: TAT; NbExp=3; IntAct=EBI-747754, EBI-12046643; P28799; Q86VP1: TAX1BP1; NbExp=3; IntAct=EBI-747754, EBI-529518; P28799; P62380: TBPL1; NbExp=3; IntAct=EBI-747754, EBI-716225; P28799; Q8IYN2: TCEAL8; NbExp=3; IntAct=EBI-747754, EBI-2116184; P28799; Q13569: TDG; NbExp=3; IntAct=EBI-747754, EBI-348333; P28799; P28347-2: TEAD1; NbExp=3; IntAct=EBI-747754, EBI-12151837; P28799; Q8NA77: TEX19; NbExp=3; IntAct=EBI-747754, EBI-13323487; P28799; O60830: TIMM17B; NbExp=3; IntAct=EBI-747754, EBI-2372529; P28799; Q04724: TLE1; NbExp=3; IntAct=EBI-747754, EBI-711424; P28799; Q08117-2: TLE5; NbExp=3; IntAct=EBI-747754, EBI-11741437; P28799; Q8N0U2: TMEM61; NbExp=3; IntAct=EBI-747754, EBI-25830583; P28799; Q53NU3: tmp_locus_54; NbExp=3; IntAct=EBI-747754, EBI-10242677; P28799; Q71RG4-4: TMUB2; NbExp=3; IntAct=EBI-747754, EBI-25831574; P28799; P19438: TNFRSF1A; NbExp=4; IntAct=EBI-747754, EBI-299451; P28799; P20333: TNFRSF1B; NbExp=5; IntAct=EBI-747754, EBI-358983; P28799; Q9UPQ4-2: TRIM35; NbExp=3; IntAct=EBI-747754, EBI-17716262; P28799; Q9BVS5: TRMT61B; NbExp=3; IntAct=EBI-747754, EBI-3197877; P28799; Q96Q11-3: TRNT1; NbExp=3; IntAct=EBI-747754, EBI-25861172; P28799; Q9Y3Q8: TSC22D4; NbExp=3; IntAct=EBI-747754, EBI-739485; P28799; O14817: TSPAN4; NbExp=3; IntAct=EBI-747754, EBI-8652667; P28799; A0A024RCB9: TSSC4; NbExp=3; IntAct=EBI-747754, EBI-25860845; P28799; Q99614: TTC1; NbExp=3; IntAct=EBI-747754, EBI-742074; P28799; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-747754, EBI-9090990; P28799; Q5VYS8-5: TUT7; NbExp=3; IntAct=EBI-747754, EBI-9088812; P28799; Q9BRU9: UTP23; NbExp=3; IntAct=EBI-747754, EBI-5457544; P28799; Q6EMK4: VASN; NbExp=3; IntAct=EBI-747754, EBI-10249550; P28799; P45880: VDAC2; NbExp=3; IntAct=EBI-747754, EBI-354022; P28799; Q8NEZ2: VPS37A; NbExp=3; IntAct=EBI-747754, EBI-2850578; P28799; Q8NEZ2-2: VPS37A; NbExp=3; IntAct=EBI-747754, EBI-10270911; P28799; P58304: VSX2; NbExp=3; IntAct=EBI-747754, EBI-6427899; P28799; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-747754, EBI-12040603; P28799; Q8IY57-5: YAF2; NbExp=3; IntAct=EBI-747754, EBI-12111538; P28799; O95070: YIF1A; NbExp=3; IntAct=EBI-747754, EBI-2799703; P28799; P25490: YY1; NbExp=4; IntAct=EBI-747754, EBI-765538; P28799; O43167-2: ZBTB24; NbExp=3; IntAct=EBI-747754, EBI-25842419; P28799; Q9NTW7: ZFP64; NbExp=3; IntAct=EBI-747754, EBI-711679; P28799; Q15776: ZKSCAN8; NbExp=3; IntAct=EBI-747754, EBI-2602314; P28799; Q15973: ZNF124; NbExp=3; IntAct=EBI-747754, EBI-2555767; P28799; P52744: ZNF138; NbExp=3; IntAct=EBI-747754, EBI-10746567; P28799; Q9UJW8-4: ZNF180; NbExp=3; IntAct=EBI-747754, EBI-12055755; P28799; Q16600: ZNF239; NbExp=3; IntAct=EBI-747754, EBI-8787052; P28799; Q8WUU4: ZNF296; NbExp=3; IntAct=EBI-747754, EBI-8834821; P28799; Q8N895: ZNF366; NbExp=3; IntAct=EBI-747754, EBI-2813661; P28799; Q8N0Y2-2: ZNF444; NbExp=3; IntAct=EBI-747754, EBI-12010736; P28799; Q96MN9-2: ZNF488; NbExp=3; IntAct=EBI-747754, EBI-25831733; P28799; Q6ZNH5: ZNF497; NbExp=3; IntAct=EBI-747754, EBI-10486136; P28799; Q96C55: ZNF524; NbExp=3; IntAct=EBI-747754, EBI-10283126; P28799; Q68EA5: ZNF57; NbExp=3; IntAct=EBI-747754, EBI-8490788; P28799; Q7Z3I7: ZNF572; NbExp=3; IntAct=EBI-747754, EBI-10172590; P28799; Q96I27-2: ZNF625; NbExp=3; IntAct=EBI-747754, EBI-12038525; P28799; Q96N77-2: ZNF641; NbExp=3; IntAct=EBI-747754, EBI-12939666; P28799; Q9BS34: ZNF670; NbExp=3; IntAct=EBI-747754, EBI-745276; P28799; Q9H7X3: ZNF696; NbExp=3; IntAct=EBI-747754, EBI-11090299; P28799; Q5TEC3: ZNF697; NbExp=3; IntAct=EBI-747754, EBI-25845217; P28799; Q6NX45: ZNF774; NbExp=3; IntAct=EBI-747754, EBI-10251462; P28799; Q3KP31: ZNF791; NbExp=3; IntAct=EBI-747754, EBI-2849119; P28799; Q16670: ZSCAN26; NbExp=3; IntAct=EBI-747754, EBI-3920053; P28799; O15535: ZSCAN9; NbExp=3; IntAct=EBI-747754, EBI-751531; P28799; A0A384ME25; NbExp=3; IntAct=EBI-747754, EBI-10211777; P28799; Q7L8T7; NbExp=3; IntAct=EBI-747754, EBI-25831943; P28799; Q7Z783; NbExp=3; IntAct=EBI-747754, EBI-9088990; P28799; P09022: Hoxa1; Xeno; NbExp=2; IntAct=EBI-747754, EBI-3957603; P28799-2; D3DTF8: APLN; NbExp=3; IntAct=EBI-25860013, EBI-22002556; P28799-2; Q9UII2: ATP5IF1; NbExp=3; IntAct=EBI-25860013, EBI-718459; P28799-2; A0A024R9H7: CCDC26; NbExp=3; IntAct=EBI-25860013, EBI-10271580; P28799-2; P50750-2: CDK9; NbExp=3; IntAct=EBI-25860013, EBI-12029902; P28799-2; Q02930-3: CREB5; NbExp=3; IntAct=EBI-25860013, EBI-10192698; P28799-2; P80370: DLK1; NbExp=3; IntAct=EBI-25860013, EBI-21555397; P28799-2; O14531: DPYSL4; NbExp=3; IntAct=EBI-25860013, EBI-719542; P28799-2; Q92997: DVL3; NbExp=3; IntAct=EBI-25860013, EBI-739789; P28799-2; O15540: FABP7; NbExp=3; IntAct=EBI-25860013, EBI-10697159; P28799-2; Q96AQ9: FAM131C; NbExp=3; IntAct=EBI-25860013, EBI-741921; P28799-2; Q5HYJ3-3: FAM76B; NbExp=3; IntAct=EBI-25860013, EBI-11956087; P28799-2; Q8N7T0: hCG_1820408; NbExp=3; IntAct=EBI-25860013, EBI-25858908; P28799-2; P49639: HOXA1; NbExp=3; IntAct=EBI-25860013, EBI-740785; P28799-2; Q5TA79: LCE2A; NbExp=3; IntAct=EBI-25860013, EBI-10246607; P28799-2; Q8IXL7-2: MSRB3; NbExp=3; IntAct=EBI-25860013, EBI-10699187; P28799-2; Q14995: NR1D2; NbExp=3; IntAct=EBI-25860013, EBI-6144053; P28799-2; P09565: PP9974; NbExp=3; IntAct=EBI-25860013, EBI-10196507; P28799-2; Q14671: PUM1; NbExp=3; IntAct=EBI-25860013, EBI-948453; P28799-2; Q7Z7K5: PXN; NbExp=3; IntAct=EBI-25860013, EBI-25841978; P28799-2; Q969E2: SCAMP4; NbExp=3; IntAct=EBI-25860013, EBI-4403649; P28799-2; P34741: SDC2; NbExp=3; IntAct=EBI-25860013, EBI-1172957; P28799-2; Q9NTG7: SIRT3; NbExp=3; IntAct=EBI-25860013, EBI-724621; P28799-2; O95416: SOX14; NbExp=3; IntAct=EBI-25860013, EBI-9087806; P28799-2; A0A024R4B0: SPATA3; NbExp=3; IntAct=EBI-25860013, EBI-14123856; P28799-2; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-25860013, EBI-5235340; P28799-2; P17735: TAT; NbExp=3; IntAct=EBI-25860013, EBI-12046643; P28799-2; Q8TDR4: TCP10L; NbExp=3; IntAct=EBI-25860013, EBI-3923210; P28799-2; Q71RG4-4: TMUB2; NbExp=3; IntAct=EBI-25860013, EBI-25831574; P28799-2; Q9Y2B4: TP53TG5; NbExp=3; IntAct=EBI-25860013, EBI-21870909; P28799-2; P25490: YY1; NbExp=3; IntAct=EBI-25860013, EBI-765538; P28799-2; Q9C0A1: ZFHX2; NbExp=3; IntAct=EBI-25860013, EBI-25850811; P28799-2; Q9UJW8-4: ZNF180; NbExp=3; IntAct=EBI-25860013, EBI-12055755; P28799-2; Q8N895: ZNF366; NbExp=3; IntAct=EBI-25860013, EBI-2813661; P28799-2; A0A087WZY1; NbExp=3; IntAct=EBI-25860013, EBI-13387614; P28799-2; Q7L8T7; NbExp=3; IntAct=EBI-25860013, EBI-25831943; PRO_0000012695; P07339: CTSD; NbExp=2; IntAct=EBI-21335602, EBI-2115097; PRO_0000012696; P07339: CTSD; NbExp=2; IntAct=EBI-21335615, EBI-2115097; PRO_0000012697; P07339: CTSD; NbExp=2; IntAct=EBI-21335629, EBI-2115097; PRO_0000012698; P07339: CTSD; NbExp=2; IntAct=EBI-21335642, EBI-2115097; PRO_0000012699; P07339: CTSD; NbExp=2; IntAct=EBI-21335656, EBI-2115097; PRO_0000012700; P07339: CTSD; NbExp=2; IntAct=EBI-21335669, EBI-2115097; PRO_0000012701; P07339: CTSD; NbExp=2; IntAct=EBI-21335682, EBI-2115097; Secreted sosome Note=Endocytosed by SORT1 and delivred to lysosomes (PubMed:21092856, PubMed:28073925). Targeted to lysosome by PSAP via M6PR and LRP1, in both biosynthetic and endocytic pathways (PubMed:26370502, PubMed:28073925). Co-localized with GBA1 in the intracellular trafficking compartments until to lysosome (By similarity). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P28799-1; Sequence=Displayed; Name=2; IsoId=P28799-2; Sequence=VSP_001837; Name=3; IsoId=P28799-3; Sequence=VSP_053472, VSP_053473; In myelogenous leukemic cell lines of promonocytic, promyelocytic, and proerythroid lineage, in fibroblasts, and very strongly in epithelial cell lines. Present in inflammatory cells and bone marrow. Highest levels in kidney. Increased in response to lysosome alkalization. Cleaved by ELANE; proteolysis is blocked by SLPI and is concentration- and time-dependent and induces CXCL8/IL-8 production; granulin-3 and granulin-4 are resistant to ELANE (PubMed:12526812, PubMed:28743268). Cleaved by CTSL in lysosome thus regulating the maturation and turnover of progranulin within the lysosome (PubMed:28743268). Ubiquitin-positive frontotemporal dementia (UP-FTD) [MIM:607485]: Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease. te=The disease is caused by variants affecting the gene represented in this entry. Ceroid lipofuscinosis, neuronal, 11 (CLN11) [MIM:614706]: A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the granulin family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/40757/GRN"; astrocyte activation involved in immune response microglial cell activation involved in immune response RNA binding cytokine activity protein binding extracellular region extracellular space lysosome lysosomal membrane endosome late endosome endoplasmic reticulum Golgi apparatus trans-Golgi network plasma membrane lysosome organization lysosomal transport lysosomal lumen acidification signal transduction growth factor activity positive regulation of endothelial cell migration membrane positive regulation of cell migration azurophil granule lumen neutrophil degranulation negative regulation of neuron apoptotic process positive regulation of neuron apoptotic process positive regulation of angiogenesis positive regulation of axon regeneration positive regulation of epithelial cell proliferation protein stabilization chaperone binding negative regulation of respiratory burst involved in inflammatory response extracellular exosome positive regulation of defense response to bacterium negative regulation of neutrophil activation positive regulation of protein folding negative regulation of microglial cell activation positive regulation of aspartic-type peptidase activity positive regulation of lysosome organization uc002igp.1 uc002igp.2 uc002igp.3 uc002igp.4 
ENST00000054650.9 THAP3 ENST00000054650.9 Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. (from UniProt Q8WTV1) ENST00000054650.1 ENST00000054650.2 ENST00000054650.3 ENST00000054650.4 ENST00000054650.5 ENST00000054650.6 ENST00000054650.7 ENST00000054650.8 NM_001394499 Q569K1 Q5TH66 Q5TH67 Q8N8T6 Q8WTV1 Q9BSC7 Q9Y3H2 Q9Y3H3 THAP3_HUMAN uc001aoc.1 uc001aoc.2 uc001aoc.3 uc001aoc.4 uc001aoc.5 Component of a THAP1/THAP3-HCFC1-OGT complex that is required for the regulation of the transcriptional activity of RRM1. Component of a THAP1/THAP3-HCFC1-OGT complex that contains at least, either THAP1 or THAP3, HCFC1 and OGT. Interacts directly with OGT and HCFC1 (via its HBM). Q8WTV1; P46379-2: BAG6; NbExp=3; IntAct=EBI-17438286, EBI-10988864; Q8WTV1; P28329-3: CHAT; NbExp=3; IntAct=EBI-17438286, EBI-25837549; Q8WTV1; O75190-2: DNAJB6; NbExp=3; IntAct=EBI-17438286, EBI-12593112; Q8WTV1; O14645: DNALI1; NbExp=3; IntAct=EBI-17438286, EBI-395638; Q8WTV1; P15311: EZR; NbExp=3; IntAct=EBI-17438286, EBI-1056902; Q8WTV1; P22607: FGFR3; NbExp=3; IntAct=EBI-17438286, EBI-348399; Q8WTV1; Q14957: GRIN2C; NbExp=3; IntAct=EBI-17438286, EBI-8285963; Q8WTV1; O14901: KLF11; NbExp=3; IntAct=EBI-17438286, EBI-948266; Q8WTV1; Q13449: LSAMP; NbExp=3; IntAct=EBI-17438286, EBI-4314821; Q8WTV1; P28331-2: NDUFS1; NbExp=3; IntAct=EBI-17438286, EBI-6190702; Q8WTV1; P61970: NUTF2; NbExp=3; IntAct=EBI-17438286, EBI-591778; Q8WTV1; Q16512: PKN1; NbExp=3; IntAct=EBI-17438286, EBI-602382; Q8WTV1; P24928: POLR2A; NbExp=3; IntAct=EBI-17438286, EBI-295301; Q8WTV1; P63000: RAC1; NbExp=3; IntAct=EBI-17438286, EBI-413628; Q8WTV1; P14678-2: SNRPB; NbExp=3; IntAct=EBI-17438286, EBI-372475; Q8WTV1; Q13148: TARDBP; NbExp=6; IntAct=EBI-17438286, EBI-372899; Q8WTV1; P14679-2: TYR; NbExp=3; IntAct=EBI-17438286, EBI-25894402; Q8WTV1; Q9BZL1: UBL5; NbExp=3; IntAct=EBI-17438286, EBI-607755; Q8WTV1; Q9UMX0: UBQLN1; NbExp=3; IntAct=EBI-17438286, EBI-741480; Q8WTV1; P14927: UQCRB; NbExp=3; IntAct=EBI-17438286, EBI-743128; Q8WTV1; P31930: UQCRC1; NbExp=3; IntAct=EBI-17438286, EBI-1052596; Q8WTV1; P61758: VBP1; NbExp=3; IntAct=EBI-17438286, EBI-357430; Q8WTV1; Q9Y649; NbExp=3; IntAct=EBI-17438286, EBI-25900580; Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q8WTV1-1; Sequence=Displayed; Name=2; IsoId=Q8WTV1-3; Sequence=VSP_015136; Name=3; IsoId=Q8WTV1-4; Sequence=VSP_015137, VSP_015138, VSP_015139; Highly expressed in heart, skeletal muscle and placenta. Weaker expression in brain, kidney and liver. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding protein binding regulation of transcription from RNA polymerase II promoter metal ion binding uc001aoc.1 uc001aoc.2 uc001aoc.3 uc001aoc.4 uc001aoc.5 
ENST00000054666.11 VAMP3 ENST00000054666.11 Homo sapiens vesicle associated membrane protein 3 (VAMP3), mRNA. (from RefSeq NM_004781) ENST00000054666.1 ENST00000054666.10 ENST00000054666.2 ENST00000054666.3 ENST00000054666.4 ENST00000054666.5 ENST00000054666.6 ENST00000054666.7 ENST00000054666.8 ENST00000054666.9 NM_004781 Q6FGG2 Q6FGG2_HUMAN VAMP3 hCG_21813 uc001aol.1 uc001aol.2 uc001aol.3 uc001aol.4 Synaptobrevins/VAMPs, syntaxins, and the 25-kD synaptosomal-associated protein are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. This gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Because of its high homology to other known VAMPs, its broad tissue distribution, and its subcellular localization, the protein encoded by this gene was shown to be the human equivalent of the rodent cellubrevin. In platelets the protein resides on a compartment that is not mobilized to the plasma membrane on calcium or thrombin stimulation. [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 :: SRR3476690.201507.1, SRR3476690.404792.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000054666.11/ ENSP00000054666.6 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## SNARE involved in vesicular transport from the late endosomes to the trans-Golgi network. Early endosome membrane ; Single-pass type IV membrane protein Endosome membrane ; Single-pass type I membrane protein Endosome membrane ; Single-pass type IV membrane protein Membrane ; Single-pass type I membrane protein Membrane ; Single-pass type IV membrane protein Recycling endosome membrane ; Single-pass type I membrane protein Synapse, synaptosome Belongs to the synaptobrevin family. SNARE binding positive regulation of receptor recycling cytosol plasma membrane cell surface membrane integral component of membrane vesicle-mediated transport apical plasma membrane syntaxin-1 binding calcium ion regulated exocytosis secretory granule integral component of synaptic vesicle membrane clathrin-coated vesicle membrane SNARE complex cytoplasmic vesicle substrate adhesion-dependent cell spreading SNARE complex assembly Golgi to plasma membrane protein transport intracellular organelle intracellular membrane-bounded organelle phagocytic vesicle perinuclear region of cytoplasm recycling endosome macromolecular complex assembly cellular response to interferon-gamma uc001aol.1 uc001aol.2 uc001aol.3 uc001aol.4 
ENST00000054950.4 RCN1 ENST00000054950.4 Homo sapiens reticulocalbin 1 (RCN1), mRNA. (from RefSeq NM_002901) ENST00000054950.1 ENST00000054950.2 ENST00000054950.3 HEL-S-84 NM_002901 V9HW95 V9HW95_HUMAN uc010reb.1 uc010reb.2 uc010reb.3 uc010reb.4 Reticulocalbin 1 is a calcium-binding protein located in the lumen of the ER. The protein contains six conserved regions with similarity to a high affinity Ca(+2)-binding motif, the EF-hand. High conservation of amino acid residues outside of these motifs, in comparison to mouse reticulocalbin, is consistent with a possible biochemical function besides that of calcium binding. In human endothelial and prostate cancer cell lines this protein localizes to the plasma membrane.[provided by RefSeq, Jan 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 :: AK129791.1, FJ224346.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000054950.4/ ENSP00000054950.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Belongs to the CREC family. calcium ion binding endoplasmic reticulum uc010reb.1 uc010reb.2 uc010reb.3 uc010reb.4 
ENST00000055077.8 RFC2 ENST00000055077.8 Homo sapiens replication factor C subunit 2 (RFC2), transcript variant 1, mRNA. (from RefSeq NM_181471) B5BU07 D3DXG3 ENST00000055077.1 ENST00000055077.2 ENST00000055077.3 ENST00000055077.4 ENST00000055077.5 ENST00000055077.6 ENST00000055077.7 NM_181471 P32846 P35250 Q9BU93 RFC2_HUMAN uc003uaj.1 uc003uaj.2 uc003uaj.3 uc003uaj.4 uc003uaj.5 uc003uaj.6 This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013]. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1. This subunit binds ATP (By similarity). Heterotetramer of subunits RFC2, RFC3, RFC4 and RFC5 that can form a complex either with RFC1 or with RAD17. The former interacts with PCNA in the presence of ATP, while the latter has ATPase activity but is not stimulated by PCNA. RFC2 also interacts with PRKAR1A; the complex may be involved in cell survival (PubMed:15655353). Interacts with DDX11 (PubMed:18499658). P35250; P10644: PRKAR1A; NbExp=7; IntAct=EBI-476409, EBI-476431; P35250; P35251: RFC1; NbExp=4; IntAct=EBI-476409, EBI-476616; P35250; P35249: RFC4; NbExp=8; IntAct=EBI-476409, EBI-476655; P35250-2; O14964: HGS; NbExp=3; IntAct=EBI-12936957, EBI-740220; P35250-2; P25786: PSMA1; NbExp=3; IntAct=EBI-12936957, EBI-359352; P35250-2; Q5VVQ6: YOD1; NbExp=3; IntAct=EBI-12936957, EBI-2510804; P35250-2; Q15915: ZIC1; NbExp=3; IntAct=EBI-12936957, EBI-11963196; Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P35250-1; Sequence=Displayed; Name=2; IsoId=P35250-2; Sequence=VSP_005660; Note=RFC2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region (PubMed:11003705). Belongs to the activator 1 small subunits family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/rfc2/"; nucleotide binding DNA binding protein binding ATP binding nucleus nucleoplasm DNA replication factor C complex DNA replication DNA-dependent DNA replication transcription-coupled nucleotide-excision repair nucleotide-excision repair, DNA incision, 5'-to lesion nucleotide-excision repair, DNA gap filling enzyme binding translesion synthesis Ctf18 RFC-like complex telomere maintenance via semi-conservative replication DNA duplex unwinding nucleotide-excision repair, DNA incision error-prone translesion synthesis DNA damage response, detection of DNA damage error-free translesion synthesis positive regulation of DNA-directed DNA polymerase activity regulation of signal transduction by p53 class mediator DNA clamp loader activity single-stranded DNA-dependent ATP-dependent DNA helicase activity uc003uaj.1 uc003uaj.2 uc003uaj.3 uc003uaj.4 uc003uaj.5 uc003uaj.6 
ENST00000055335.11 PPP1R3F ENST00000055335.11 Homo sapiens protein phosphatase 1 regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA. (from RefSeq NM_033215) A2VDJ8 B3KPW2 E9PCM3 ENST00000055335.1 ENST00000055335.10 ENST00000055335.2 ENST00000055335.3 ENST00000055335.4 ENST00000055335.5 ENST00000055335.6 ENST00000055335.7 ENST00000055335.8 ENST00000055335.9 NM_033215 PPR3F_HUMAN Q6ZSY5 uc004dnh.1 uc004dnh.2 uc004dnh.3 uc004dnh.4 This gene encodes a protein that has been identified as one of several type-1 protein phosphatase (PP1) regulatory subunits. One or two of these subunits, together with the well-conserved catalytic subunit, can form the PP1 holoenzyme, where the regulatory subunit functions to regulate substrate specificity and/or targeting to a particular cellular compartment. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]. Glycogen-targeting subunit for protein phosphatase 1 (PP1). Membrane ; Single-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q6ZSY5-1; Sequence=Displayed; Name=2; IsoId=Q6ZSY5-2; Sequence=VSP_045003, VSP_045004; Expressed in brain, skeletal muscle and heart. Sequence=AAI31589.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; Sequence=BAG51824.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; regulation of glycogen biosynthetic process membrane integral component of membrane protein phosphatase binding regulation of glycogen (starch) synthase activity glycogen binding uc004dnh.1 uc004dnh.2 uc004dnh.3 uc004dnh.4 
ENST00000055682.12 NEXMIF ENST00000055682.12 Homo sapiens neurite extension and migration factor (NEXMIF), mRNA. (from RefSeq NM_001008537) A7YY87 ENST00000055682.1 ENST00000055682.10 ENST00000055682.11 ENST00000055682.2 ENST00000055682.3 ENST00000055682.4 ENST00000055682.5 ENST00000055682.6 ENST00000055682.7 ENST00000055682.8 ENST00000055682.9 KIAA2022 NEXMIF NEXMI_HUMAN NM_001008537 Q5JUX9 Q5QGS0 Q8IVE9 uc004eby.1 uc004eby.2 uc004eby.3 uc004eby.4 uc004eby.5 uc004eby.6 An inversion on the X chromosome which disrupts this gene and a G-protein coupled purinergic receptor gene located in the pseudoautosomal region of the X chromosome has been linked to X linked cognitive disability.[provided by RefSeq, Mar 2009]. 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 :: AY563507.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2152798, SAMEA2155984 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000055682.12/ ENSP00000055682.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1). Nucleus Cytoplasm Highly expressed in fetal and adult brain, predominantly in the cerebral cortex and the cerebellum. Also expressed in other tissues but to a lesser extent. Intellectual developmental disorder, X-linked 98 (XLID98) [MIM:300912]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. XLID98 patients show delayed psychomotor development, absent or poor speech development, and postnatal growth retardation, often with microcephaly. Some patients show autistic behavioral features, such as stereotypic hand movements and repetitive behaviors. Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control. te=The disease is caused by variants affecting the gene represented in this entry. A chromosomal aberration involving NEXMIF is found in patients with severe intellectual disability. Pericentric inversion inv(X)(p22.3;q13.2) with P2RY8 leading to inactivation of NEXMIF (PubMed:15466006). XLID98 transmission pattern is consistent with X- linked recessive inheritance (PubMed:23615299). In some cases, de novo heterozygous loss-of-function mutations have been found in affected females, while some female carriers are asymptomatic (PubMed:26576034, PubMed:27358180, PubMed:27568816). The female phenotype partially overlaps with the reported male phenotype but includes epilepsy as a relevant feature. The variability of disease manifestation in female carriers is probably due to skewed X inactivation with differential expression in the brain (PubMed:26576034, PubMed:27358180, PubMed:27568816). Sequence=BAC23118.1; Type=Erroneous initiation; Evidence=; negative regulation of cell-matrix adhesion nucleus cytoplasm multicellular organism development nervous system development negative regulation of cell adhesion mediated by integrin negative regulation of cell-cell adhesion mediated by cadherin negative regulation of neuron migration uc004eby.1 uc004eby.2 uc004eby.3 uc004eby.4 uc004eby.5 uc004eby.6 
ENST00000056217.10 ARHGEF5 ENST00000056217.10 Homo sapiens Rho guanine nucleotide exchange factor 5 (ARHGEF5), mRNA. (from RefSeq NM_005435) A6NNJ2 ARHG5_HUMAN ENST00000056217.1 ENST00000056217.2 ENST00000056217.3 ENST00000056217.4 ENST00000056217.5 ENST00000056217.6 ENST00000056217.7 ENST00000056217.8 ENST00000056217.9 NM_005435 Q12774 Q6ZML7 TIM uc003wel.1 uc003wel.2 uc003wel.3 uc003wel.4 uc003wel.5 Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein may be involved in the control of cytoskeletal organization. [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 :: AK160365.1, BC136661.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000056217.10/ ENSP00000056217.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Guanine nucleotide exchange factor which activates Rho GTPases (PubMed:15601624). Strongly activates RHOA (PubMed:15601624). Also strongly activates RHOB, weakly activates RHOC and RHOG and shows no effect on RHOD, RHOV, RHOQ or RAC1 (By similarity). Involved in regulation of cell shape and actin cytoskeletal organization (PubMed:15601624). Plays a role in actin organization by generating a loss of actin stress fibers and the formation of membrane ruffles and filopodia (PubMed:14662653). Required for SRC-induced podosome formation (By similarity). Involved in positive regulation of immature dendritic cell migration (By similarity). Interacts with SRC (By similarity). Forms a ternary complex with SRC and the PI3K 85 kDa subunit (By similarity). Interacts with and is activated by the heterodimer formed by GNB1 and GNG2 (By similarity). Interacts with ODAM (via C-terminus) (PubMed:25911094). Interacts with RHOA (By similarity). Q12774; Q13137: CALCOCO2; NbExp=3; IntAct=EBI-602199, EBI-739580; Q12774; Q9Y2V7: COG6; NbExp=5; IntAct=EBI-602199, EBI-3866319; Q12774; Q5JST6: EFHC2; NbExp=6; IntAct=EBI-602199, EBI-2349927; Q12774; Q7L775: EPM2AIP1; NbExp=3; IntAct=EBI-602199, EBI-6255981; Q12774; P62993: GRB2; NbExp=7; IntAct=EBI-602199, EBI-401755; Q12774; O75031: HSF2BP; NbExp=3; IntAct=EBI-602199, EBI-7116203; Q12774; Q96EW2: HSPBAP1; NbExp=6; IntAct=EBI-602199, EBI-720457; Q12774; P25791-3: LMO2; NbExp=3; IntAct=EBI-602199, EBI-11959475; Q12774; Q96KN4: LRATD1; NbExp=5; IntAct=EBI-602199, EBI-11477916; Q12774; Q8IYB1: MB21D2; NbExp=3; IntAct=EBI-602199, EBI-11323212; Q12774; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-602199, EBI-10172526; Q12774; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-602199, EBI-79165; Q12774; Q58EX7: PLEKHG4; NbExp=3; IntAct=EBI-602199, EBI-949255; Q12774; O15160: POLR1C; NbExp=5; IntAct=EBI-602199, EBI-1055079; Q12774; P61586: RHOA; NbExp=2; IntAct=EBI-602199, EBI-446668; Q12774; P31947: SFN; NbExp=4; IntAct=EBI-602199, EBI-476295; Q12774; Q8ND83: SLAIN1; NbExp=3; IntAct=EBI-602199, EBI-10269374; Q12774; Q9NVG8: TBC1D13; NbExp=6; IntAct=EBI-602199, EBI-12264956; Q12774; P15884-3: TCF4; NbExp=3; IntAct=EBI-602199, EBI-13636688; Q12774; P14373: TRIM27; NbExp=6; IntAct=EBI-602199, EBI-719493; Q12774; Q9BYV2: TRIM54; NbExp=6; IntAct=EBI-602199, EBI-2130429; Q12774; Q9UGI0: ZRANB1; NbExp=3; IntAct=EBI-602199, EBI-527853; Cytoplasm cleus Cell projection, podosome Event=Alternative splicing; Named isoforms=2; Comment=A number of additional isoforms are detected in primary breast tumors but not in normal tissues. ; Name=1; IsoId=Q12774-1; Sequence=Displayed; Name=2; IsoId=Q12774-2; Sequence=VSP_035175; Ubiquitously expressed with highest levels in placenta. High levels are also found in colon, kidney, trachea, prostate, liver, pancreas, pituitary gland, thyroid gland and mammary gland. In fetal tissues, expressed at high levels in kidney, lung and liver (PubMed:15601624). Expressed at low levels in lung and heart (PubMed:14662653). The PH domain binds to phosphoinositides and is essential for podosome formation. Activation of SRC induces tyrosine phosphorylation of ARHGEF5. Sequence=BAD18708.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; podosome myeloid dendritic cell chemotaxis guanyl-nucleotide exchange factor activity Rho guanyl-nucleotide exchange factor activity protein binding GTP binding nucleus nucleoplasm cytoplasm cytosol plasma membrane G-protein coupled receptor signaling pathway lipid binding actin cytoskeleton organization cell junction regulation of actin cytoskeleton organization regulation of Rho protein signal transduction intracellular signal transduction cell projection positive regulation of apoptotic process regulation of GTPase activity positive regulation of JUN kinase activity positive regulation of GTPase activity regulation of small GTPase mediated signal transduction positive regulation of sequence-specific DNA binding transcription factor activity regulation of cytoskeleton organization positive regulation of stress fiber assembly positive regulation of podosome assembly cell periphery positive regulation of protein import regulation of ERK1 and ERK2 cascade uc003wel.1 uc003wel.2 uc003wel.3 uc003wel.4 uc003wel.5 
ENST00000056233.4 NFE2L3 ENST00000056233.4 Homo sapiens nuclear factor, erythroid 2 like 3 (NFE2L3), mRNA. (from RefSeq NM_004289) ENST00000056233.1 ENST00000056233.2 ENST00000056233.3 NF2L3_HUMAN NM_004289 NRF3 Q6NUS0 Q7Z498 Q86UJ4 Q86VR5 Q9UQA4 Q9Y4A8 uc003sxq.1 uc003sxq.2 uc003sxq.3 uc003sxq.4 uc003sxq.5 This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 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 :: BC068455.1, AF134891.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000056233.4/ ENSP00000056233.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Activates erythroid-specific, globin gene expression. Heterodimer with MAFG, MAFK and other small MAF proteins that binds to the MAF recognition elements (MARE). Q9Y4A8; Q9ULX9: MAFF; NbExp=3; IntAct=EBI-10890629, EBI-721128; Q9Y4A8; O15525: MAFG; NbExp=5; IntAct=EBI-10890629, EBI-713514; Q9Y4A8; Q16621: NFE2; NbExp=4; IntAct=EBI-10890629, EBI-726369; Nucleus Highly expressed in human placenta and also in B- cell and monocyte cell lines. Low expression in heart, brain, lung, skeletal muscle, kidney and pancreas. Belongs to the bZIP family. CNC subfamily. Sequence=AAP22344.1; Type=Erroneous gene model prediction; Evidence=; Sequence=BAA76288.1; Type=Erroneous initiation; Evidence=; negative regulation of transcription from RNA polymerase II promoter nuclear chromatin 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 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity protein binding nucleus cytoplasm regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter transcription from RNA polymerase II promoter positive regulation of transcription, DNA-templated uc003sxq.1 uc003sxq.2 uc003sxq.3 uc003sxq.4 uc003sxq.5 
ENST00000057513.8 TNIP3 ENST00000057513.8 Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 1, mRNA. (from RefSeq NM_024873) A1A574 A8K2Z4 ABIN3 B4DVF5 B4E023 ENST00000057513.1 ENST00000057513.2 ENST00000057513.3 ENST00000057513.4 ENST00000057513.5 ENST00000057513.6 ENST00000057513.7 LIND NM_024873 Q96KP6 Q96PQ3 Q9H780 TNIP3 TNIP3_HUMAN uc010ing.1 uc010ing.2 uc010ing.3 uc010ing.4 uc010ing.5 Binds to zinc finger protein TNFAIP3 and inhibits NF-kappa-B activation induced by tumor necrosis factor, Toll-like receptor 4 (TLR4), interleukin-1 and 12-O-tetradecanoylphorbol-13-acetate. Overexpression inhibits NF-kappa-B-dependent gene expression in response to lipopolysaccharide at a level downstream of TRAF6 and upstream of IKBKB. NF-kappa-B inhibition is independent of TNFAIP3 binding. Interacts with TNFAIP3. Interacts with polyubiquitin. Q96KP6; Q86V38: ATN1; NbExp=3; IntAct=EBI-2509913, EBI-11954292; Q96KP6; P48745: CCN3; NbExp=3; IntAct=EBI-2509913, EBI-3904822; Q96KP6; P02489: CRYAA; NbExp=3; IntAct=EBI-2509913, EBI-6875961; Q96KP6; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-2509913, EBI-3867333; Q96KP6; Q15038: DAZAP2; NbExp=9; IntAct=EBI-2509913, EBI-724310; Q96KP6; G5E9A7: DMWD; NbExp=3; IntAct=EBI-2509913, EBI-10976677; Q96KP6; Q3B820: FAM161A; NbExp=3; IntAct=EBI-2509913, EBI-719941; Q96KP6; P42858: HTT; NbExp=9; IntAct=EBI-2509913, EBI-466029; Q96KP6; Q92876: KLK6; NbExp=3; IntAct=EBI-2509913, EBI-2432309; Q96KP6; O00505: KPNA3; NbExp=3; IntAct=EBI-2509913, EBI-358297; Q96KP6; Q6A162: KRT40; NbExp=4; IntAct=EBI-2509913, EBI-10171697; Q96KP6; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-2509913, EBI-10171774; Q96KP6; Q99732: LITAF; NbExp=3; IntAct=EBI-2509913, EBI-725647; Q96KP6; P02545: LMNA; NbExp=3; IntAct=EBI-2509913, EBI-351935; Q96KP6; Q9BRK4: LZTS2; NbExp=6; IntAct=EBI-2509913, EBI-741037; Q96KP6; P43356: MAGEA2B; NbExp=3; IntAct=EBI-2509913, EBI-5650739; Q96KP6; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-2509913, EBI-11522433; Q96KP6; P35240: NF2; NbExp=3; IntAct=EBI-2509913, EBI-1014472; Q96KP6; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-2509913, EBI-945833; Q96KP6; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-2509913, EBI-22310682; Q96KP6; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-2509913, EBI-741158; Q96KP6; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-2509913, EBI-14066006; Q96KP6; Q9NRY6: PLSCR3; NbExp=3; IntAct=EBI-2509913, EBI-750734; Q96KP6; D3DTS7: PMP22; NbExp=3; IntAct=EBI-2509913, EBI-25882629; Q96KP6; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-2509913, EBI-5235340; Q96KP6; Q86VP1: TAX1BP1; NbExp=7; IntAct=EBI-2509913, EBI-529518; Q96KP6; Q8N8B7-2: TCEANC; NbExp=3; IntAct=EBI-2509913, EBI-11955057; Q96KP6; P21580: TNFAIP3; NbExp=3; IntAct=EBI-2509913, EBI-527670; Q96KP6; Q15025: TNIP1; NbExp=6; IntAct=EBI-2509913, EBI-357849; Q96KP6; Q9BZR9: TRIM8; NbExp=3; IntAct=EBI-2509913, EBI-2340370; Q96KP6; Q96BR9: ZBTB8A; NbExp=3; IntAct=EBI-2509913, EBI-742740; Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q96KP6-1; Sequence=Displayed; Name=2; IsoId=Q96KP6-2; Sequence=VSP_045101, VSP_045103; Name=3; IsoId=Q96KP6-3; Sequence=VSP_045102, VSP_045103; Highly expressed in lung, lymph node, thymus and fetal liver. Expressed at lower levels in bone marrow, brain, kidney, spleen, leukocytes and tonsils. Could be detected in heart, salivary gland, adrenal gland, pancreas, ovary and fetal brain. High levels detected in liver, colon, small intestine, muscle, stomach, testis, placenta, thyroid, uterus, prostate, skin and PBL. By Listeria infection. Expression is slightly down-regulated by dexamethasone and slightly up-regulated by IL-10. Strongly induced mRNA and protein expression by lipopolysaccharide. Sequence=BAB15018.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAB15018.1; Type=Frameshift; Evidence=; Sequence=CAC85929.1; Type=Frameshift; Evidence=; MyD88-independent toll-like receptor signaling pathway protein binding cytosol inflammatory response protein deubiquitination polyubiquitin binding toll-like receptor 4 signaling pathway negative regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of transcription from RNA polymerase II promoter cellular response to lipopolysaccharide uc010ing.1 uc010ing.2 uc010ing.3 uc010ing.4 uc010ing.5 
ENST00000060969.6 SIKE1 ENST00000060969.6 Homo sapiens suppressor of IKBKE 1 (SIKE1), transcript variant 4, non-coding RNA. (from RefSeq NR_049742) ENST00000060969.1 ENST00000060969.2 ENST00000060969.3 ENST00000060969.4 ENST00000060969.5 NR_049742 Q5TEZ7 Q5TEZ9 Q68DZ4 Q9BRV8 Q9H778 SIKE SIKE1_HUMAN uc001efo.1 uc001efo.2 uc001efo.3 uc001efo.4 uc001efo.5 uc001efo.6 SIKE interacts with IKK-epsilon (IKBKE; MIM 605048) and TBK1 (MIM 604834) and acts as a suppressor of TLR3 (MIM 603029) and virus-triggered interferon activation pathways (Huang et al., 2005 [PubMed 16281057]).[supplied by OMIM, Mar 2008]. Physiological suppressor of IKK-epsilon and TBK1 that plays an inhibitory role in virus- and TLR3-triggered IRF3. Inhibits TLR3- mediated activation of interferon-stimulated response elements (ISRE) and the IFN-beta promoter. May act by disrupting the interactions of IKBKE or TBK1 with TICAM1/TRIF, IRF3 and RIGI. Does not inhibit NF- kappa-B activation pathways. Interacts with IKBKE and TBK1 via its coiled coil region. Interaction with TBK1 is disrupted upon viral infection or TLR3 stimulation (PubMed:16281057). Interacts with CDC42BPB (PubMed:25743393). Q9BRV8; O43439-4: CBFA2T2; NbExp=3; IntAct=EBI-1773646, EBI-11954144; Q9BRV8; Q7L2Z9: CENPQ; NbExp=3; IntAct=EBI-1773646, EBI-2350265; Q9BRV8; P78358: CTAG1B; NbExp=3; IntAct=EBI-1773646, EBI-1188472; Q9BRV8; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-1773646, EBI-741158; Q9BRV8; Q9UIL1-3: SCOC; NbExp=3; IntAct=EBI-1773646, EBI-10692913; Q9BRV8; Q13033-2: STRN3; NbExp=4; IntAct=EBI-1773646, EBI-1053876; Q9BRV8; O75558: STX11; NbExp=3; IntAct=EBI-1773646, EBI-714135; Q9BRV8; Q9Y228: TRAF3IP3; NbExp=2; IntAct=EBI-1773646, EBI-765817; Q9BRV8; P40222: TXLNA; NbExp=3; IntAct=EBI-1773646, EBI-359793; Q9BRV8; Q8N3L3: TXLNB; NbExp=3; IntAct=EBI-1773646, EBI-6116822; Q9BRV8; Q53FD0-2: ZC2HC1C; NbExp=6; IntAct=EBI-1773646, EBI-14104088; Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BRV8-1; Sequence=Displayed; Name=2; IsoId=Q9BRV8-2; Sequence=VSP_027543; Widely expressed. Expressed in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and leukocytes. Present in all cell lines tested (at protein level). Belongs to the SIKE family. protein binding cytoplasm cytosol Rho GTPase binding protein kinase binding uc001efo.1 uc001efo.2 uc001efo.3 uc001efo.4 uc001efo.5 uc001efo.6 
ENST00000061240.7 TLL1 ENST00000061240.7 Homo sapiens tolloid like 1 (TLL1), transcript variant 1, mRNA. (from RefSeq NM_012464) B2RMU2 ENST00000061240.1 ENST00000061240.2 ENST00000061240.3 ENST00000061240.4 ENST00000061240.5 ENST00000061240.6 NM_012464 O43897 Q96AN3 Q9NQS4 TLL TLL1_HUMAN uc003irh.1 uc003irh.2 uc003irh.3 uc003irh.4 This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]. Protease which processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Required for the embryonic development. Predominant protease, which in the development, influences dorsal-ventral patterning and skeletogenesis. Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Note=Binds 1 zinc ion per subunit. Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43897-1; Sequence=Displayed; Name=2; IsoId=O43897-2; Sequence=VSP_017197, VSP_017198; Atrial septal defect 6 (ASD6) [MIM:613087]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Note=The disease is caused by variants affecting the gene represented in this entry. skeletal system development metalloendopeptidase activity calcium ion binding extracellular region proteolysis multicellular organism development peptidase activity metallopeptidase activity zinc ion binding hydrolase activity extracellular matrix disassembly cell differentiation metal ion binding uc003irh.1 uc003irh.2 uc003irh.3 uc003irh.4 
ENST00000064571.3 CBLN4 ENST00000064571.3 Homo sapiens cerebellin 4 precursor (CBLN4), mRNA. (from RefSeq NM_080617) A8K0S5 CBLN4_HUMAN CBLNL1 ENST00000064571.1 ENST00000064571.2 NM_080617 Q9NTU7 UNQ718/PRO1382 uc002xxa.1 uc002xxa.2 uc002xxa.3 uc002xxa.4 uc002xxa.5 uc002xxa.6 This gene encodes a member of a family of small secreted proteins containing C1Q domains. Members of this family are involved in regulation of neurexin signalling during synapse development. The mouse homolog of the protein encoded by this gene competes with netrin to bind to the deleted in colorectal cancer receptor. [provided by RefSeq, Aug 2012]. ##Evidence-Data-START## Transcript exon combination :: BC050026.1, SRR1803617.233939.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1970526, SAMEA2142586 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000064571.3/ ENSP00000064571.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Acts as a synaptic organizer in specific subsets of neurons in the brain (By similarity). Essential for the formation and maintenance of inhibitory GABAergic synapses (By similarity). Promotes the development of dendrite-targeting inhibitory GABAergic synapses made by somatostatin-positive interneurons (By similarity). May contribute to the function of ventral medial habenula region of the brain implicated in the regulation of anxiety-related behaviors (By similarity). May play a role in CBLN3 export from the endoplasmic reticulum and secretion (By similarity). Homohexamer; disulfide-linked homotrimers. The trimers are assembled via the globular C1q domains. The trimers associate via N- terminal cysteine residues to form disulfide-linked hexamers (By similarity). May form oligomers with CBLN1, CBLN2 and CBLN3 prior to secretion (By similarity). Strongly interacts with DCC in a NTN1- displaceable fashion (By similarity). Weakly binds to NRXN1 and NRXN2 long and short isoforms produced by alternative promoter usage. Interaction with NRXN3 short isoform is hardly detectable; no interaction at all with NRXN3 long isoform (By similarity). Secreted Synapse Note=Detected at GABAergic synapses. Sialoglycoprotein. extracellular region extracellular space protein secretion cell junction synapse uc002xxa.1 uc002xxa.2 uc002xxa.3 uc002xxa.4 uc002xxa.5 uc002xxa.6 
ENST00000064724.8 CLDN11 ENST00000064724.8 Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA. (from RefSeq NM_005602) B2R7C1 CLD11_HUMAN D3DNQ5 ENST00000064724.1 ENST00000064724.2 ENST00000064724.3 ENST00000064724.4 ENST00000064724.5 ENST00000064724.6 ENST00000064724.7 NM_005602 O75508 OSP OTM Q5U0P3 uc003fgx.1 uc003fgx.2 uc003fgx.3 uc003fgx.4 uc003fgx.5 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 major component of central nervous system (CNS) myelin and plays an important role in regulating proliferation and migration of oligodendrocytes. Mouse studies showed that the gene deficiency results in deafness and loss of the Sertoli cell epithelial phenotype in the testis. This protein is a tight junction protein at the human blood-testis barrier (BTB), and the BTB disruption is related to a dysfunction of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Aug 2010]. Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. Interacts with tetraspanin-3/TSPAN3 (By similarity). Interacts with OCLN (PubMed:20375010). O75508; Q86WK6: AMIGO1; NbExp=3; IntAct=EBI-12820543, EBI-19125216; O75508; Q86V38: ATN1; NbExp=3; IntAct=EBI-12820543, EBI-11954292; O75508; Q6UWD8: C16orf54; NbExp=3; IntAct=EBI-12820543, EBI-18041102; O75508; Q8TBE3: FNDC9; NbExp=3; IntAct=EBI-12820543, EBI-12142257; O75508; Q92876: KLK6; NbExp=3; IntAct=EBI-12820543, EBI-2432309; O75508; P26715: KLRC1; NbExp=3; IntAct=EBI-12820543, EBI-9018187; O75508; A0PJX4: SHISA3; NbExp=3; IntAct=EBI-12820543, EBI-10171518; O75508; Q9BZL3: SMIM3; NbExp=3; IntAct=EBI-12820543, EBI-741850; O75508; O43278-2: SPINT1; NbExp=3; IntAct=EBI-12820543, EBI-12078338; O75508; Q96HE8: TMEM80; NbExp=3; IntAct=EBI-12820543, EBI-11742770; O75508; O43557: TNFSF14; NbExp=3; IntAct=EBI-12820543, EBI-524131; O75508; P21754-3: ZP3; NbExp=3; IntAct=EBI-12820543, EBI-17458299; Cell junction, tight junction. Cell membrane ; Multi-pass membrane protein Leukodystrophy, hypomyelinating, 22 (HLD22) [MIM:619328]: An autosomal dominant disorder characterized by global developmental delay, mildly impaired intellectual development, motor impairment, limb spasticity, dysarthria, and eye abnormalities including hypermetropia. Brain imaging shows hypomyelinating leukodystrophy. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the claudin family. structural molecule activity protein binding plasma membrane bicellular tight junction membrane integral component of membrane calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules cell junction identical protein binding uc003fgx.1 uc003fgx.2 uc003fgx.3 uc003fgx.4 uc003fgx.5 
ENST00000064780.7 RELT ENST00000064780.7 Homo sapiens RELT TNF receptor (RELT), transcript variant 2, mRNA. (from RefSeq NM_152222) ENST00000064780.1 ENST00000064780.2 ENST00000064780.3 ENST00000064780.4 ENST00000064780.5 ENST00000064780.6 NM_152222 Q86V34 Q969Z4 Q96JU1 Q9BUX7 TNFRSF19L TR19L_HUMAN uc001otv.1 uc001otv.2 uc001otv.3 uc001otv.4 uc001otv.5 The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is especially abundant in hematologic tissues. It has been shown to activate the NF-kappaB pathway and selectively bind TNF receptor-associated factor 1 (TRAF1). This receptor is capable of stimulating T-cell proliferation in the presence of CD3 signaling, which suggests its regulatory role in immune response. Two alternatively spliced transcript variants of this gene encoding the same protein have been reported. [provided by RefSeq, Jul 2008]. May play a role in apoptosis (PubMed:28688764, PubMed:19969290). Induces activation of MAPK14/p38 and MAPK8/JNK MAPK cascades, when overexpressed (PubMed:16530727). Involved in dental enamel formation (PubMed:30506946). Interacts with TRAF1 (PubMed:11313261). Interacts with RELL1, RELL2 and OXSR1 (PubMed:16389068). Interacts with PLSCR1 (PubMed:22052202). Interacts with STK39 (PubMed:16530727). Cell membrane ; Single-pass type I membrane protein Cytoplasm Cytoplasm, perinuclear region Spleen, lymph node, brain, breast and peripheral blood leukocytes (at protein level) (PubMed:28688764). Expressed highly in bone marrow and fetal liver. Very low levels in skeletal muscle, testis and colon. Not detected in kidney and pancreas. Phosphorylated in vitro by OXSR1 (PubMed:16389068). Phosphorylated by STK39 (PubMed:16530727). Amelogenesis imperfecta 3C (AI3C) [MIM:618386]: An autosomal recessive form of amelogenesis imperfecta, a defect of enamel formation. AI3C is characterized by generalized enamel hypocalcification affecting primary and secondary dentition. The surface of the enamel is rough and often stained. After eruption, the occlusal enamel on the molars disappears due to attrition, leaving a ring of intact enamel remaining on the sides. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the RELT family. Sequence=BAB84954.1; Type=Frameshift; Evidence=; protein binding nucleus cytoplasm plasma membrane apoptotic process membrane integral component of membrane perinuclear region of cytoplasm uc001otv.1 uc001otv.2 uc001otv.3 uc001otv.4 uc001otv.5 
ENST00000066544.8 CDC27 ENST00000066544.8 Homo sapiens cell division cycle 27 (CDC27), transcript variant 10, non-coding RNA. (from RefSeq NR_148340) ANAPC3 CDC27_HUMAN D0S1430E D17S978E ENST00000066544.1 ENST00000066544.2 ENST00000066544.3 ENST00000066544.4 ENST00000066544.5 ENST00000066544.6 ENST00000066544.7 G3V1C4 NR_148340 P30260 Q16349 Q96F35 uc002ild.1 uc002ild.2 uc002ild.3 uc002ild.4 uc002ild.5 uc002ild.6 The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from 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 :: SRR1803614.250251.1 [ECO:0000332] ##Evidence-Data-END## 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. Protein modification; protein ubiquitination. Homodimer. 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 (PubMed:26083744, PubMed:25043029). Interacts with RB. Interacts with FAM168B/MANI (By similarity). Interacts with MCPH1 (PubMed:22139841). P30260; Q9UJX5: ANAPC4; NbExp=8; IntAct=EBI-994813, EBI-2554854; P30260; P24385: CCND1; NbExp=3; IntAct=EBI-994813, EBI-375001; P30260; Q12834: CDC20; NbExp=13; IntAct=EBI-994813, EBI-367462; P30260; P12830: CDH1; NbExp=2; IntAct=EBI-994813, EBI-727477; P30260; P21964-2: COMT; NbExp=3; IntAct=EBI-994813, EBI-10200977; P30260; Q9UKT4: FBXO5; NbExp=2; IntAct=EBI-994813, EBI-852298; P30260; O43524: FOXO3; NbExp=2; IntAct=EBI-994813, EBI-1644164; P30260; Q9UM11: FZR1; NbExp=12; IntAct=EBI-994813, EBI-724997; P30260; Q13257: MAD2L1; NbExp=9; IntAct=EBI-994813, EBI-78203; P30260; Q9UI95: MAD2L2; NbExp=2; IntAct=EBI-994813, EBI-77889; P30260; P16333: NCK1; NbExp=3; IntAct=EBI-994813, EBI-389883; P30260; P51955: NEK2; NbExp=2; IntAct=EBI-994813, EBI-633182; P30260; P60484: PTEN; NbExp=7; IntAct=EBI-994813, EBI-696162; Nucleus Cytoplasm, cytoskeleton, spindle Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P30260-1; Sequence=Displayed; Name=2; IsoId=P30260-2; Sequence=VSP_047225; Phosphorylated. Phosphorylation on Ser-426 and Thr-446 occurs specifically during mitosis. [Isoform 2]: May be due to competing acceptor splice site. Belongs to the APC3/CDC27 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc27/"; protein binding nucleus nucleoplasm anaphase-promoting complex cytoplasm centrosome cytosol ubiquitin-dependent protein catabolic process metaphase/anaphase transition of mitotic cell cycle protein ubiquitination protein phosphatase binding anaphase-promoting complex-dependent catabolic process protein K11-linked ubiquitination regulation of mitotic cell cycle phase transition spindle microtubule uc002ild.1 uc002ild.2 uc002ild.3 uc002ild.4 uc002ild.5 uc002ild.6 
ENST00000072644.7 YIPF1 ENST00000072644.7 Homo sapiens Yip1 domain family member 1 (YIPF1), transcript variant 2, non-coding RNA. (from RefSeq NR_036639) B2RCM7 D3DQ40 ENST00000072644.1 ENST00000072644.2 ENST00000072644.3 ENST00000072644.4 ENST00000072644.5 ENST00000072644.6 NR_036639 Q9NWJ1 Q9Y548 YIPF1_HUMAN uc001cvu.1 uc001cvu.2 uc001cvu.3 uc001cvu.4 uc001cvu.5 uc001cvu.6 Interacts with YIPF6; this interaction may stabilize YIPF1. May also form a ternary complex with YIPF2 and YIPF6. Q9Y548; Q8NCL9: APCDD1L; NbExp=3; IntAct=EBI-7850136, EBI-12904424; Q9Y548; Q13520: AQP6; NbExp=3; IntAct=EBI-7850136, EBI-13059134; Q9Y548; P07307-3: ASGR2; NbExp=3; IntAct=EBI-7850136, EBI-12808270; Q9Y548; O00501: CLDN5; NbExp=3; IntAct=EBI-7850136, EBI-18400628; Q9Y548; Q8TAZ6: CMTM2; NbExp=3; IntAct=EBI-7850136, EBI-2339374; Q9Y548; P34972: CNR2; NbExp=3; IntAct=EBI-7850136, EBI-2835940; Q9Y548; Q15125: EBP; NbExp=3; IntAct=EBI-7850136, EBI-3915253; Q9Y548; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-7850136, EBI-781551; Q9Y548; O14843: FFAR3; NbExp=3; IntAct=EBI-7850136, EBI-17762181; Q9Y548; Q8TDT2: GPR152; NbExp=3; IntAct=EBI-7850136, EBI-13345167; Q9Y548; O15529: GPR42; NbExp=3; IntAct=EBI-7850136, EBI-18076404; Q9Y548; Q9NZD1: GPRC5D; NbExp=3; IntAct=EBI-7850136, EBI-13067820; Q9Y548; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-7850136, EBI-1055254; Q9Y548; P48051: KCNJ6; NbExp=3; IntAct=EBI-7850136, EBI-12017638; Q9Y548; O15243: LEPROT; NbExp=3; IntAct=EBI-7850136, EBI-15672507; Q9Y548; Q5SR56: MFSD14B; NbExp=3; IntAct=EBI-7850136, EBI-373355; Q9Y548; Q86VR2: RETREG3; NbExp=3; IntAct=EBI-7850136, EBI-10192441; Q9Y548; Q99942: RNF5; NbExp=3; IntAct=EBI-7850136, EBI-348482; Q9Y548; Q96PQ1: SIGLEC12; NbExp=3; IntAct=EBI-7850136, EBI-17640454; Q9Y548; Q3KNW5: SLC10A6; NbExp=3; IntAct=EBI-7850136, EBI-18159983; Q9Y548; Q2M3R5: SLC35G1; NbExp=3; IntAct=EBI-7850136, EBI-13311257; Q9Y548; Q9UHI5: SLC7A8; NbExp=3; IntAct=EBI-7850136, EBI-13292283; Q9Y548; Q9NPL8: TIMMDC1; NbExp=3; IntAct=EBI-7850136, EBI-6268651; Q9Y548; Q96MV1: TLCD4; NbExp=3; IntAct=EBI-7850136, EBI-12947623; Q9Y548; Q9NUH8: TMEM14B; NbExp=3; IntAct=EBI-7850136, EBI-8638294; Q9Y548; Q9NWD8: TMEM248; NbExp=3; IntAct=EBI-7850136, EBI-10314986; Q9Y548; Q6ZT21: TMPPE; NbExp=3; IntAct=EBI-7850136, EBI-11724433; Q9Y548; Q9Y320: TMX2; NbExp=3; IntAct=EBI-7850136, EBI-6447886; Q9Y548; Q9NYZ1: TVP23B; NbExp=3; IntAct=EBI-7850136, EBI-11343401; Q9Y548; Q3ZAQ7: VMA21; NbExp=3; IntAct=EBI-7850136, EBI-1055364; Q9Y548; Q96EC8: YIPF6; NbExp=8; IntAct=EBI-7850136, EBI-751210; Q9Y548; Q9NXF8-2: ZDHHC7; NbExp=3; IntAct=EBI-7850136, EBI-12948063; Golgi apparatus, cis-Golgi network membrane ; Multi-pass membrane protein Golgi apparatus, trans-Golgi network membrane Late endosome membrane Note=Mainly localizes within medial-/trans-Golgi and trans-Golgi network (TGN), while less so within cis-Golgi. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y548-1; Sequence=Displayed; Name=2; IsoId=Q9Y548-2; Sequence=VSP_019437; Belongs to the YIP1 family. Sequence=AAH09674.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Golgi trans cisterna protein binding endosome Golgi apparatus Golgi medial cisterna trans-Golgi network membrane integral component of membrane vesicle-mediated transport Rab GTPase binding transport vesicle late endosome membrane uc001cvu.1 uc001cvu.2 uc001cvu.3 uc001cvu.4 uc001cvu.5 uc001cvu.6 
ENST00000072869.9 ADCK2 ENST00000072869.9 Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA. (from RefSeq NM_052853) AARF ADCK2_HUMAN ENST00000072869.1 ENST00000072869.2 ENST00000072869.3 ENST00000072869.4 ENST00000072869.5 ENST00000072869.6 ENST00000072869.7 ENST00000072869.8 NM_052853 Q7Z695 Q96CN6 Q9Y6T5 uc003vvy.1 uc003vvy.2 uc003vvy.3 The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr) (Probable). Involved in the mitochondrial import of CoQ precursors, plays a role in muscle mitochondrial function and fatty acid beta-oxidation (PubMed:31480808). Q7Z695; P05141: SLC25A5; NbExp=4; IntAct=EBI-21505425, EBI-355133; Mitochondrion Membrane ; Single-pass membrane protein Belongs to the protein kinase superfamily. ADCK protein kinase family. Sequence=AAH14107.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence=; nucleotide binding protein serine/threonine kinase activity ATP binding protein phosphorylation membrane integral component of membrane kinase activity phosphorylation transferase activity uc003vvy.1 uc003vvy.2 uc003vvy.3 
ENST00000075120.12 SLC2A3 ENST00000075120.12 Homo sapiens solute carrier family 2 member 3 (SLC2A3), mRNA. (from RefSeq NM_006931) B2R606 D3DUU6 ENST00000075120.1 ENST00000075120.10 ENST00000075120.11 ENST00000075120.2 ENST00000075120.3 ENST00000075120.4 ENST00000075120.5 ENST00000075120.6 ENST00000075120.7 ENST00000075120.8 ENST00000075120.9 GLUT3 GTR3_HUMAN NM_006931 P11169 Q6I9U2 Q9UG15 SLC2A3 uc001qtr.1 uc001qtr.2 uc001qtr.3 uc001qtr.4 uc001qtr.5 Facilitative glucose transporter (PubMed:9477959, PubMed:26176916). Can also mediate the uptake of various other monosaccharides across the cell membrane (PubMed:9477959, PubMed:26176916). Mediates the uptake of glucose, 2-deoxyglucose, galactose, mannose, xylose and fucose, and probably also dehydroascorbate (PubMed:9477959, PubMed:26176916). Does not mediate fructose transport (PubMed:9477959, PubMed:26176916). Required for mesendoderm differentiation (By similarity). Reaction=D-glucose(out) = D-glucose(in); Xref=Rhea:RHEA:60376, ChEBI:CHEBI:4167; Evidence= Reaction=D-galactose(in) = D-galactose(out); Xref=Rhea:RHEA:34915, ChEBI:CHEBI:4139; Evidence=; Deoxyglucose transport is inhibit by D-glucose, D- galactose and maltose (PubMed:8457197). Galactose transport is inhibited by D-glucose and maltose (PubMed:8457197). Kinetic parameters: KM=1.4 mM for deoxyglucose KM=8.5 mM for D-galactose ; Interacts with SMIM43; the interaction may promote SLC2A3- mediated glucose transport to meet the energy needs of mesendoderm differentiation. P11169; Q96BA8: CREB3L1; NbExp=3; IntAct=EBI-725116, EBI-6942903; Cell membrane ulti-pass membrane protein Perikaryon Cell projection Note=Localized to densely spaced patches along neuronal processes. Highly expressed in brain (PubMed:8457197). Expressed in many tissues. Transport is mediated via a series of conformation changes, switching between a conformation where the substrate-binding cavity is accessible from the outside, and a another conformation where it is accessible from the cytoplasm. Belongs to the major facilitator superfamily. Sugar transporter (TC 2.A.1.1) family. Glucose transporter subfamily. glucose transmembrane transporter activity protein binding glucose binding plasma membrane integral component of plasma membrane carbohydrate metabolic process carbohydrate transport membrane integral component of membrane L-ascorbic acid metabolic process transmembrane transporter activity secretory granule membrane specific granule membrane cell projection perikaryon neutrophil degranulation transmembrane transport extracellular exosome tertiary granule membrane ficolin-1-rich granule membrane glucose transmembrane transport uc001qtr.1 uc001qtr.2 uc001qtr.3 uc001qtr.4 uc001qtr.5 
ENST00000075322.11 ENPP2 ENST00000075322.11 Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 2, mRNA. (from RefSeq NM_001040092) A8UHA1 ATX E9PHP7 ENPP2_HUMAN ENST00000075322.1 ENST00000075322.10 ENST00000075322.2 ENST00000075322.3 ENST00000075322.4 ENST00000075322.5 ENST00000075322.6 ENST00000075322.7 ENST00000075322.8 ENST00000075322.9 NM_001040092 PDNP2 Q13822 Q13827 Q14555 Q15117 Q9UCQ8 Q9UCR0 Q9UCR1 Q9UCR2 Q9UCR3 Q9UCR4 uc003yot.1 uc003yot.2 uc003yot.3 uc003yot.4 The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells and has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2008]. Hydrolyzes lysophospholipids to produce the signaling molecule lysophosphatidic acid (LPA) in extracellular fluids (PubMed:15769751, PubMed:26371182, PubMed:27754931, PubMed:14500380, PubMed:12354767). Major substrate is lysophosphatidylcholine (PubMed:12176993, PubMed:27754931, PubMed:14500380). Can also act on sphingosylphosphorylcholine producing sphingosine-1-phosphate, a modulator of cell motility (PubMed:14500380). Can hydrolyze, in vitro, bis-pNPP, to some extent pNP-TMP, and barely ATP (PubMed:15769751, PubMed:12176993). Involved in several motility-related processes such as angiogenesis and neurite outgrowth. Acts as an angiogenic factor by stimulating migration of smooth muscle cells and microtubule formation (PubMed:11559573). Stimulates migration of melanoma cells, probably via a pertussis toxin-sensitive G protein (PubMed:1733949). May have a role in induction of parturition (PubMed:12176993). Possible involvement in cell proliferation and adipose tissue development (Probable). Tumor cell motility-stimulating factor (PubMed:1733949, PubMed:11559573). Required for LPA production in activated platelets, cleaves the sn-1 lysophospholipids to generate sn-1 lysophosphatidic acids containing predominantly 18:2 and 20:4 fatty acids (PubMed:21393252). Shows a preference for the sn-1 to the sn-2 isomer of 1-O-alkyl-sn-glycero-3- phosphocholine (lyso-PAF) (PubMed:21393252). Reaction=1-O-alkyl-sn-glycero-3-phosphoethanolamine + H2O = 1-O-alkyl- sn-glycero-3-phosphate + ethanolamine + H(+); Xref=Rhea:RHEA:15965, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57603, ChEBI:CHEBI:58014, ChEBI:CHEBI:76168; EC=3.1.4.39; Evidence= Reaction=1-O-(9Z-octadecenyl)-sn-glycero-3-phosphocholine + H2O = 1-O- (9Z-octadecenyl)-sn-glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:41684, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:64396, ChEBI:CHEBI:78402; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41685; Evidence=; Reaction=a 2-acyl-sn-glycero-3-phosphocholine + H2O = a 2-acyl-sn- glycerol 3-phosphate + choline + H(+); Xref=Rhea:RHEA:41712, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57875, ChEBI:CHEBI:64982; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41713; Evidence=; Reaction=a 2-acyl-sn-glycero-3-phospho-L-serine + H2O = a 2-acyl-sn- glycerol 3-phosphate + H(+) + L-serine; Xref=Rhea:RHEA:41716, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:33384, ChEBI:CHEBI:64982, ChEBI:CHEBI:65214; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41717; Evidence=; Reaction=1-dodecanoyl-sn-glycero-3-phosphocholine + H2O = 1-dodecanoyl- sn-glycerol 3-phosphate + choline + H(+); Xref=Rhea:RHEA:38991, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:72682, ChEBI:CHEBI:74966; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38992; Evidence=; Reaction=H2O + sphing-4-enine-phosphocholine = choline + H(+) + sphing- 4-enine 1-phosphate; Xref=Rhea:RHEA:38919, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:58906, ChEBI:CHEBI:60119; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38920; 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=1-tetradecanoyl-sn-glycero-3-phosphocholine + H2O = 1- tetradecanoyl-sn-glycerol 3-phosphate + choline + H(+); Xref=Rhea:RHEA:38983, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:64489, ChEBI:CHEBI:72683; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38984; Evidence=; Reaction=1-decanoyl-sn-glycero-3-phosphocholine + H2O = 1-decanoyl-sn- glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:41131, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:77724, ChEBI:CHEBI:77726; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41132; Evidence=; 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-octadecanoyl-sn-glycero-3-phosphocholine + H2O = 1- octadecanoyl-sn-glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:38979, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:73858, ChEBI:CHEBI:74565; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38980; Evidence=; Reaction=1-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phosphocholine + H2O = 1-(9Z,12Z)-octadecadienoyl-sn-glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:41135, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28733, ChEBI:CHEBI:74547; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41136; Evidence=; Reaction=1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphocholine + H2O = 1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:41139, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:74344, ChEBI:CHEBI:74938; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41140; 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-hexanoyl-sn-glycero-3-phosphocholine + H2O = 1-hexanoyl-sn- glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:41400, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:78215, ChEBI:CHEBI:78223; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41401; Evidence=; Reaction=1,2-dioctanoyl-sn-glycero-3-phosphocholine + H2O = 1,2- dioctanoyl-sn-glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:41416, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:78228, ChEBI:CHEBI:78229; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41417; Evidence=; Reaction=1,2-didecanoyl-sn-glycero-3-phosphocholine + H2O = 1,2- didecanoyl-sn-glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:41412, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:78226, ChEBI:CHEBI:78227; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41413; Evidence=; Reaction=1-O-(1Z-alkenyl)-sn-glycero-3-phosphocholine + H2O = 1-O-(1Z- alkenyl)-sn-glycero-3-phosphate + choline + H(+); Xref=Rhea:RHEA:41588, ChEBI:CHEBI:15354, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:77283, ChEBI:CHEBI:77287; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41589; Evidence=; Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + ethanolamine + H(+); Xref=Rhea:RHEA:38927, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57603, ChEBI:CHEBI:74544, ChEBI:CHEBI:74971; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38928; Evidence=; Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + H2O = 1- (9Z-octadecenoyl)-sn-glycero-3-phosphate + H(+) + L-serine; Xref=Rhea:RHEA:38931, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:33384, ChEBI:CHEBI:74544, ChEBI:CHEBI:74617; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38932; 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 1 Ca(2+) ion per subunit. Inhibited by lysophosphatidic acid (LPA) and sphingosine-1-phosphate (S1P). Inhibited by EDTA and EGTA (Probable). Kinetic parameters: KM=0.5 mM for 16:0-LPC (at pH 8.5) KM=5.5 mM for pNP-TMP (at pH 8.5) KM=11.3 mM for pNppp (isoform 1) KM=5.7 mM for pNppp (isoform 2) KM=19.8 mM for pNppp (isoform 3) KM=96 uM for sn-1 lyso-PAF ; KM=51 uM for sn-2 lyso-PAF ; KM=0.10 mM for lysophosphatidylcholine ; KM=0.23 mM for sphingosylphosphorylcholine ; Vmax=1.9 nmol/min/ug enzyme with pNppp as substrate (isoform 1) ; Vmax=0.67 nmol/min/ug enzyme with pNppp as substrate (isoform 2) ; Vmax=1.6 nmol/min/ug enzyme with pNppp as substrate (isoform 3) ; Vmax=0.11 umol/min/mg enzyme with sn-1 lyso-PAF as substrate ; Vmax=0.025 umol/min/mg enzyme with sn-2 lyso-PAF as substrate ; Vmax=11.8 nmol/min/ug enzyme with lysophosphatidylcholine as substrate ; Vmax=6.1 nmol/min/ug enzyme with sphingosylphosphorylcholine as substrate ; pH dependence: Optimum pH is 9.0 (isoform 1), 8.0 (isoform 3). Isoform 1 is less sensitive to pH. Isoform 1, isoform 2 and isoform 3 all retain some activity at pH 9.5. Temperature dependence: Isoform 1 and isoform 3 are active from 45 to 60 degrees Celsius. ; Secreted Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=ATXter, Beta; IsoId=Q13822-1; Sequence=Displayed; Name=2; Synonyms=ATXmel, Alpha; IsoId=Q13822-2; Sequence=VSP_006750; Name=3; Synonyms=Gamma; IsoId=Q13822-3; Sequence=VSP_036398; Detected in blood plasma (at protein level) (PubMed:12176993, PubMed:26371182). Predominantly expressed in brain, placenta, ovary, and small intestine. Expressed in a number of carcinomas such as hepatocellular and prostate carcinoma, neuroblastoma and non-small-cell lung cancer. Expressed in body fluids such as plasma, cerebral spinal fluid (CSF), saliva, follicular and amniotic fluids. Not detected in leukocytes. Isoform 1 is more highly expressed in peripheral tissues than in the central nervous system (CNS). Adipocytes only express isoform 1. Isoform 3 is more highly expressed in the brain than in peripheral tissues. Up-regulated in massively obese subjects with glucose intolerance, and during adipogenesis. N-glycosylation, but not furin-cleavage, plays a critical role on secretion and on lysoPLD activity. The interdomain disulfide bond between Cys-414 and Cys-806 is essential for catalytic activity. Belongs to the nucleotide pyrophosphatase/phosphodiesterase family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/40455/ENPP2"; nucleic acid binding catalytic activity phosphodiesterase I activity nucleotide diphosphatase activity lysophospholipase activity scavenger receptor activity calcium ion binding extracellular region extracellular space plasma membrane lipid metabolic process phospholipid metabolic process endocytosis chemotaxis immune response transcription factor binding zinc ion binding phospholipid catabolic process positive regulation of epithelial cell migration lipid catabolic process hydrolase activity polysaccharide binding regulation of cell migration phosphatidylcholine catabolic process regulation of angiogenesis metal ion binding alkylglycerophosphoethanolamine phosphodiesterase activity cell motility positive regulation of peptidyl-tyrosine phosphorylation nucleic acid phosphodiester bond hydrolysis positive regulation of lamellipodium morphogenesis uc003yot.1 uc003yot.2 uc003yot.3 uc003yot.4 
ENST00000075503.8 STYK1 ENST00000075503.8 Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA. (from RefSeq NM_018423) B2R9T2 ENST00000075503.1 ENST00000075503.2 ENST00000075503.3 ENST00000075503.4 ENST00000075503.5 ENST00000075503.6 ENST00000075503.7 NM_018423 NOK Q52LR3 Q6J9G0 Q9BXY2 Q9NSH1 STYK1_HUMAN uc001qys.1 uc001qys.2 uc001qys.3 Receptor protein tyrosine kinases, like STYK1, play important roles in diverse cellular and developmental processes, such as cell proliferation, differentiation, and survival (Liu et al., 2004 [PubMed 15150103]).[supplied by OMIM, Mar 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 :: AL353940.1, SRR1660809.181095.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000075503.8/ ENSP00000075503.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Probable tyrosine protein-kinase, which has strong transforming capabilities on a variety of cell lines. When overexpressed, it can also induce tumor cell invasion as well as metastasis in distant organs. May act by activating both MAP kinase and phosphatidylinositol 3'-kinases (PI3K) pathways (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=; Q6J9G0; P49841: GSK3B; NbExp=2; IntAct=EBI-6424915, EBI-373586; Q6J9G0; P08238: HSP90AB1; NbExp=3; IntAct=EBI-6424915, EBI-352572; Membrane ; Single-pass membrane protein Widely expressed. Highly expressed in brain, placenta and prostate. Expressed in tumor cells such as hepatoma cells L-02, cervix carcinoma cells HeLa, ovary cancer cells Ho8910 and chronic myelogenous leukemia cells K-562, but not in other tumor cells such as epidermoid carcinoma (A-431). Undetectable in most normal lung tissues, widely expressed in lung cancers. 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 protein binding ATP binding plasma membrane protein phosphorylation membrane integral component of membrane kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation uc001qys.1 uc001qys.2 uc001qys.3 
ENST00000078429.9 GNA11 ENST00000078429.9 Homo sapiens G protein subunit alpha 11 (GNA11), mRNA. (from RefSeq NM_002067) ENST00000078429.1 ENST00000078429.2 ENST00000078429.3 ENST00000078429.4 ENST00000078429.5 ENST00000078429.6 ENST00000078429.7 ENST00000078429.8 GA11 GNA11_HUMAN NM_002067 O15109 P29992 Q14350 Q6IB00 uc010xhe.1 uc010xhe.2 uc010xhe.3 uc010xhe.4 uc010xhe.5 uc010xhe.6 The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 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 :: ERR279833.10491.1, SRR1163658.278623.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000078429.9/ ENSP00000078429.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems (PubMed:31073061). Acts as an activator of phospholipase C (PubMed:31073061). Transduces FFAR4 signaling in response to long-chain fatty acids (LCFAs) (PubMed:27852822). Together with GNAQ, required for heart development (By similarity). G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site (PubMed:35061538). Interacts with RGS22 (PubMed:18703424). Interacts with NTSR1 (PubMed:21725197). (Microbial infection) Interacts with human cytomegalovirus (HHV-5) US28. Cell membrane ; Lipid-anchor Cytoplasm Note=In testicular cells, expressed exclusively in the cytoplasm. Expressed in testis. (Microbial infection) Deamidated at Gln-209 by Photorhabdus asymbiotica toxin PAU_02230, blocking GTP hydrolysis of heterotrimeric GNAQ or GNA11 and G-alphai (GNAI1, GNAI2 or GNAI3) proteins, thereby activating RhoA. Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981]: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. Note=The disease is caused by variants affecting the gene represented in this entry. Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]: A form of hypocalcemia, a disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. te=The disease is caused by variants affecting the gene represented in this entry. Belongs to the G-alpha family. G(q) subfamily. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/43272/GNA11"; nucleotide binding skeletal system development action potential G-protein coupled receptor binding photoreceptor outer segment GTPase activity protein binding GTP binding cytoplasm lysosomal membrane heterotrimeric G-protein complex plasma membrane signal transduction G-protein coupled receptor signaling pathway adenylate cyclase-modulating G-protein coupled receptor signaling pathway G-protein coupled acetylcholine receptor signaling pathway heart development phototransduction, visible light entrainment of circadian clock membrane guanyl nucleotide binding platelet activation G-protein beta/gamma-subunit complex binding type 2A serotonin receptor binding regulation of melanocyte differentiation metal ion binding developmental pigmentation phospholipase C-activating dopamine receptor signaling pathway extracellular exosome cellular response to pH uc010xhe.1 uc010xhe.2 uc010xhe.3 uc010xhe.4 uc010xhe.5 uc010xhe.6 
ENST00000078445.7 CREB3L3 ENST00000078445.7 Homo sapiens cAMP responsive element binding protein 3 like 3 (CREB3L3), transcript variant 1, mRNA. (from RefSeq NM_032607) B2R7S6 B7ZL69 CR3L3_HUMAN CREBH ENST00000078445.1 ENST00000078445.2 ENST00000078445.3 ENST00000078445.4 ENST00000078445.5 ENST00000078445.6 HYST1481 M0QYW7 NM_032607 Q68CJ9 Q6ZMC5 Q96TB9 uc002lzl.1 uc002lzl.2 uc002lzl.3 uc002lzl.4 uc002lzl.5 This gene encodes a member of the basic-leucine zipper family and the AMP-dependent transcription factor family. The encoded protein is localized to the endoplasmic reticulum and acts as a transcription factor activated by cyclic AMP stimulation. The encoded protein binds the cyclic AMP response element (CRE) and the box-B element and has been linked to acute inflammatory response, hepatocellular carcinoma, triglyceride metabolism, and hepcidin expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]. Transcription factor that may act during endoplasmic reticulum stress by activating unfolded protein response target genes. Activated in response to cAMP stimulation. In vitro, binds to the cAMP response element (CRE) and box-B element. Activates transcription through box-B element. Activates transcription through CRE (By similarity). May function synergistically with ATF6. In acute inflammatory response, may activate expression of acute phase response (APR) genes. May be involved in growth suppression. Regulates FGF21 transcription (By similarity). Plays a crucial role in the regulation of triglyceride metabolism and is required for the maintenance of normal plasma triglyceride concentrations (PubMed:21666694). Binds DNA as a dimer (By similarity). May form homodimers (PubMed:16469704). Interacts with ATF6 (PubMed:16469704). Interacts with SYNV1/HRD1; this interaction leads to CREB3L3 ubiquitination and proteasomal degradation (By similarity). Q68CJ9; P18850: ATF6; NbExp=2; IntAct=EBI-852194, EBI-852157; Q68CJ9; Q96LK0: CEP19; NbExp=3; IntAct=EBI-852194, EBI-741885; Q68CJ9; O43889: CREB3; NbExp=3; IntAct=EBI-852194, EBI-625002; Q68CJ9; Q96BA8: CREB3L1; NbExp=2; IntAct=EBI-852194, EBI-6942903; Q68CJ9; Q68CJ9: CREB3L3; NbExp=2; IntAct=EBI-852194, EBI-852194; Q68CJ9; Q8NBI2: CYB561A3; NbExp=3; IntAct=EBI-852194, EBI-10269179; Q68CJ9; Q9C005: DPY30; NbExp=3; IntAct=EBI-852194, EBI-744973; Q68CJ9; Q969F0: FATE1; NbExp=3; IntAct=EBI-852194, EBI-743099; Q68CJ9; O00155: GPR25; NbExp=3; IntAct=EBI-852194, EBI-10178951; Q68CJ9; Q96EZ8: MCRS1; NbExp=3; IntAct=EBI-852194, EBI-348259; Q68CJ9; Q5J8X5: MS4A13; NbExp=3; IntAct=EBI-852194, EBI-12070086; Q68CJ9; Q16649: NFIL3; NbExp=2; IntAct=EBI-852194, EBI-3951858; Q68CJ9; Q02094: RHAG; NbExp=3; IntAct=EBI-852194, EBI-14772355; Q68CJ9; Q96GQ5: RUSF1; NbExp=3; IntAct=EBI-852194, EBI-8636004; Q68CJ9; O43765: SGTA; NbExp=3; IntAct=EBI-852194, EBI-347996; Q68CJ9; Q96EQ0: SGTB; NbExp=3; IntAct=EBI-852194, EBI-744081; Q68CJ9; Q9NVC3: SLC38A7; NbExp=3; IntAct=EBI-852194, EBI-10314552; Q68CJ9; Q9NUM3: SLC39A9; NbExp=3; IntAct=EBI-852194, EBI-2823239; Q68CJ9; Q13190: STX5; NbExp=3; IntAct=EBI-852194, EBI-714206; Q68CJ9; Q8N8B7-2: TCEANC; NbExp=3; IntAct=EBI-852194, EBI-11955057; Q68CJ9; Q8WW34-2: TMEM239; NbExp=3; IntAct=EBI-852194, EBI-11528917; Q68CJ9; Q9Y228: TRAF3IP3; NbExp=3; IntAct=EBI-852194, EBI-765817; Q68CJ9; Q96EC8: YIPF6; NbExp=3; IntAct=EBI-852194, EBI-751210; Endoplasmic reticulum membrane ; Single-pass type II membrane protein [Processed cyclic AMP-responsive element-binding protein 3-like protein 3]: Nucleus Note=Under ER stress the cleaved N-terminal cytoplasmic domain translocates into the nucleus. Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q68CJ9-1; Sequence=Displayed; Name=2; IsoId=Q68CJ9-2; Sequence=VSP_025637; Name=3; IsoId=Q68CJ9-4; Sequence=VSP_054876; Name=4; IsoId=Q68CJ9-5; Sequence=VSP_055635, VSP_055636; Exclusively expressed in liver. Underexpressed in hepatocellular carcinoma tissues. Controlled by regulated intramembrane proteolysis (RIP). Following ER stress a fragment containing the cytoplasmic transcription factor domain is released by proteolysis. The cleavage seems to be performed sequentially by site-1 and site-2 proteases (PS1 and PS2). N- and O-glycosylated. N-glycosylation is required for optimal proteolytic activation. O-glycosylated with core 1 or possibly core 8 glycans. Ubiquitinated at Lys-294 by SYNV1/HRD1 via 'Lys-27'-linked ubiquitin. Hypertriglyceridemia 2 (HYTG2) [MIM:619324]: An autosomal dominant form of hypertriglyceridemia, a disorder characterized by elevated plasma triglyceride levels. HYTG2 patients also have increased total cholesterol levels and low levels of high density lipoprotein (HDL) cholesterol. Reduced penetrance has been observed. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Belongs to the bZIP family. ATF subfamily. Sequence=BAD18804.1; Type=Frameshift; Evidence=; Sequence=BAD18804.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence=; Golgi membrane nuclear chromatin 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 positive regulation of acute inflammatory response DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm endoplasmic reticulum endoplasmic reticulum membrane cytosol regulation of transcription, DNA-templated response to unfolded protein membrane integral component of membrane endoplasmic reticulum unfolded protein response cAMP response element binding protein homodimerization activity positive regulation of transcription from RNA polymerase II promoter protein heterodimerization activity positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress uc002lzl.1 uc002lzl.2 uc002lzl.3 uc002lzl.4 uc002lzl.5 
ENST00000080059.12 HDAC7 ENST00000080059.12 Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 8, non-coding RNA. (from RefSeq NR_160436) B3KY08 B4DWI0 B4E0Q5 ENST00000080059.1 ENST00000080059.10 ENST00000080059.11 ENST00000080059.2 ENST00000080059.3 ENST00000080059.4 ENST00000080059.5 ENST00000080059.6 ENST00000080059.7 ENST00000080059.8 ENST00000080059.9 HDAC7A HDAC7_HUMAN NR_160436 Q6P1W9 Q6W9G7 Q7Z4K2 Q7Z5I1 Q8WUI4 Q96K01 Q9BR73 Q9H7L0 Q9NW41 Q9NWA9 Q9NYK9 Q9UFU7 uc010slo.1 uc010slo.2 uc010slo.3 uc010slo.4 Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from 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 :: SRR7346977.1964967.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## Responsible for 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. Involved in muscle maturation by repressing transcription of myocyte enhancer factors such as MEF2A, MEF2B and MEF2C. During muscle differentiation, it shuttles into the cytoplasm, allowing the expression of myocyte enhancer factors (By similarity). May be involved in Epstein-Barr virus (EBV) latency, possibly by repressing the viral BZLF1 gene. Positively regulates the transcriptional repressor activity of FOXP3 (PubMed:17360565). Serves as a corepressor of RARA, causing its deacetylation and inhibition of RARE DNA element binding (PubMed:28167758). In association with RARA, plays a role in the repression of microRNA-10a and thereby in the inflammatory response (PubMed:28167758). 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; Interacts with HDAC1, HDAC2, HDAC3, HDAC4, HDAC5, NCOR1, NCOR2, SIN3A, SIN3B, RBBP4, RBBP7, MTA1L1, SAP30 and MBD3. Interacts with the 14-3-3 protein YWHAE, MEF2A, MEF2B and MEF2C (By similarity). Interacts with KAT5 and EDNRA. Interacts with KDM5B. Interacts with ZMYND15 (By similarity). Interacts with PML (isoform PML-4). Interacts with FOXP3. Interacts with RARA (PubMed:28167758). Q8WUI4; P00533: EGFR; NbExp=3; IntAct=EBI-1048378, EBI-297353; Q8WUI4; Q9BZS1-1: FOXP3; NbExp=2; IntAct=EBI-1048378, EBI-9695448; Q8WUI4; Q9BZS1-2: FOXP3; NbExp=2; IntAct=EBI-1048378, EBI-16338471; Q8WUI4; Q9BZL6: PRKD2; NbExp=6; IntAct=EBI-1048378, EBI-1384325; Q8WUI4; P31947: SFN; NbExp=3; IntAct=EBI-1048378, EBI-476295; Q8WUI4; P63104: YWHAZ; NbExp=4; IntAct=EBI-1048378, EBI-347088; Q8WUI4; P08393: ICP0; Xeno; NbExp=3; IntAct=EBI-1048378, EBI-6148881; Q8WUI4; Q8CFN5: Mef2c; Xeno; NbExp=2; IntAct=EBI-1048378, EBI-643797; Q8WUI4-5; Q13137: CALCOCO2; NbExp=3; IntAct=EBI-10276431, EBI-739580; Q8WUI4-5; Q04864: REL; NbExp=3; IntAct=EBI-10276431, EBI-307352; Q8WUI4-5; Q0D2K3: RIPPLY1; NbExp=3; IntAct=EBI-10276431, EBI-10226430; Q8WUI4-6; Q8WXI4-2: ACOT11; NbExp=3; IntAct=EBI-12094670, EBI-17721098; Q8WUI4-6; Q9BQD7: ANTKMT; NbExp=3; IntAct=EBI-12094670, EBI-713602; Q8WUI4-6; Q03989: ARID5A; NbExp=3; IntAct=EBI-12094670, EBI-948603; Q8WUI4-6; Q9NSI6-4: BRWD1; NbExp=3; IntAct=EBI-12094670, EBI-10693038; Q8WUI4-6; Q3SXR2: C3orf36; NbExp=3; IntAct=EBI-12094670, EBI-18036948; Q8WUI4-6; Q13137: CALCOCO2; NbExp=3; IntAct=EBI-12094670, EBI-739580; Q8WUI4-6; P60953: CDC42; NbExp=3; IntAct=EBI-12094670, EBI-81752; Q8WUI4-6; Q7L2Z9: CENPQ; NbExp=3; IntAct=EBI-12094670, EBI-2350265; Q8WUI4-6; Q96D03: DDIT4L; NbExp=3; IntAct=EBI-12094670, EBI-742054; Q8WUI4-6; Q9NQ30: ESM1; NbExp=3; IntAct=EBI-12094670, EBI-12260294; Q8WUI4-6; Q9UBI6: GNG12; NbExp=3; IntAct=EBI-12094670, EBI-358636; Q8WUI4-6; A6NEM1: GOLGA6L9; NbExp=3; IntAct=EBI-12094670, EBI-5916454; Q8WUI4-6; A5PKX9: INADL; NbExp=3; IntAct=EBI-12094670, EBI-12035052; Q8WUI4-6; Q9BXK1: KLF16; NbExp=3; IntAct=EBI-12094670, EBI-5457991; Q8WUI4-6; Q6ZNG9: KRBA2; NbExp=3; IntAct=EBI-12094670, EBI-13309813; Q8WUI4-6; O43679: LDB2; NbExp=3; IntAct=EBI-12094670, EBI-2865580; Q8WUI4-6; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-12094670, EBI-16439278; Q8WUI4-6; Q9BRT3: MIEN1; NbExp=5; IntAct=EBI-12094670, EBI-6137472; Q8WUI4-6; O95411: MYO18A; NbExp=3; IntAct=EBI-12094670, EBI-302378; Q8WUI4-6; O00746: NME4; NbExp=3; IntAct=EBI-12094670, EBI-744871; Q8WUI4-6; Q9BQI9: NRIP2; NbExp=6; IntAct=EBI-12094670, EBI-3913975; Q8WUI4-6; B7ZLY0: PHC2; NbExp=3; IntAct=EBI-12094670, EBI-14568740; Q8WUI4-6; Q96I34: PPP1R16A; NbExp=3; IntAct=EBI-12094670, EBI-710402; Q8WUI4-6; P63000: RAC1; NbExp=4; IntAct=EBI-12094670, EBI-413628; Q8WUI4-6; P15153: RAC2; NbExp=3; IntAct=EBI-12094670, EBI-489652; Q8WUI4-6; P60763: RAC3; NbExp=3; IntAct=EBI-12094670, EBI-767084; Q8WUI4-6; Q04864-2: REL; NbExp=3; IntAct=EBI-12094670, EBI-10829018; Q8WUI4-6; Q0D2K3: RIPPLY1; NbExp=6; IntAct=EBI-12094670, EBI-10226430; Q8WUI4-6; P62070: RRAS2; NbExp=3; IntAct=EBI-12094670, EBI-491037; Q8WUI4-6; O15427: SLC16A3; NbExp=3; IntAct=EBI-12094670, EBI-7600166; Q8WUI4-6; O94964-4: SOGA1; NbExp=3; IntAct=EBI-12094670, EBI-14083835; Q8WUI4-6; O95164: UBL3; NbExp=3; IntAct=EBI-12094670, EBI-12876508; Nucleus. Cytoplasm. Note=In the nucleus, it associates with distinct subnuclear dot-like structures. Shuttles between the nucleus and the cytoplasm. Treatment with EDN1 results in shuttling from the nucleus to the perinuclear region. The export to cytoplasm depends on the interaction with the 14-3-3 protein YWHAE and is due to its phosphorylation. Event=Alternative splicing; Named isoforms=10; Name=1; IsoId=Q8WUI4-1; Sequence=Displayed; Name=2; IsoId=Q8WUI4-2; Sequence=VSP_007429, VSP_007431; Name=3; IsoId=Q8WUI4-3; Sequence=VSP_008772; Name=4; IsoId=Q8WUI4-4; Sequence=VSP_007430; Name=5; IsoId=Q8WUI4-5; Sequence=VSP_038104; Name=6; IsoId=Q8WUI4-6; Sequence=VSP_038105; Name=7; IsoId=Q8WUI4-7; Sequence=VSP_038104, VSP_008772; Name=8; IsoId=Q8WUI4-8; Sequence=VSP_038106, VSP_038107; Name=9; IsoId=Q8WUI4-9; Sequence=VSP_038102; Name=10; IsoId=Q8WUI4-10; Sequence=VSP_038103; The nuclear export sequence mediates the shuttling between the nucleus and the cytoplasm. May be phosphorylated by CaMK1. Phosphorylated by the PKC kinases PKN1 and PKN2, impairing nuclear import. Phosphorylation at Ser-155 by MARK2, MARK3 and PRKD1 promotes interaction with 14-3-3 proteins and export from the nucleus. Phosphorylation at Ser-155 is a prerequisite for phosphorylation at Ser-181. Its activity is inhibited by Trichostatin A (TSA), a known histone deacetylase inhibitor. Belongs to the histone deacetylase family. HD type 2 subfamily. Sequence=AAF63491.1; Type=Frameshift; Evidence=; Sequence=BAA91474.1; Type=Erroneous initiation; Evidence=; Sequence=BAA91545.1; Type=Erroneous initiation; Evidence=; Sequence=BAB15759.1; Type=Erroneous initiation; Evidence=; Sequence=BAB55363.1; Type=Erroneous initiation; Evidence=; Sequence=BAC56929.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence=; histone deacetylase complex negative regulation of transcription from RNA polymerase II promoter vasculogenesis chromatin binding transcription corepressor activity histone deacetylase activity protein kinase C binding protein binding nucleus nucleoplasm cytoplasm cytosol chromatin organization cell-cell junction assembly histone deacetylation hydrolase activity protein kinase binding NAD-dependent histone deacetylase activity (H3-K14 specific) negative regulation of interleukin-2 production activating transcription factor binding negative regulation of osteoblast differentiation negative regulation of transcription, DNA-templated metal ion binding repressing transcription factor binding histone H3 deacetylation 14-3-3 protein binding positive regulation of cell migration involved in sprouting angiogenesis negative regulation of NIK/NF-kappaB signaling uc010slo.1 uc010slo.2 uc010slo.3 uc010slo.4 
ENST00000081029.8 MRPS35 ENST00000081029.8 Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_021821) ENST00000081029.1 ENST00000081029.2 ENST00000081029.3 ENST00000081029.4 ENST00000081029.5 ENST00000081029.6 ENST00000081029.7 HDCMD11P MDS023 MRPS28 MRPS35 NM_021821 P82673 PSEC0213 Q32LZ1 Q6P4C6 Q7L1M6 Q8NBP4 Q96AI0 Q9H044 Q9HC14 Q9P1R5 RT35_HUMAN uc001rih.1 uc001rih.2 uc001rih.3 uc001rih.4 uc001rih.5 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]. Component of the mitochondrial small ribosomal subunit (mt- SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. Mitochondrion Event=Alternative splicing; Named isoforms=2; Name=1 ; IsoId=P82673-1; Sequence=Displayed; Name=2 ; IsoId=P82673-2; Sequence=VSP_054096, VSP_054097; Belongs to the mitochondrion-specific ribosomal protein mS35 family. Sequence=AAG14958.1; Type=Frameshift; Evidence=; RNA binding structural constituent of ribosome mitochondrion mitochondrial inner membrane mitochondrial small ribosomal subunit ribosome mitochondrial translation DNA damage response, detection of DNA damage mitochondrial translational elongation mitochondrial translational termination uc001rih.1 uc001rih.2 uc001rih.3 uc001rih.4 uc001rih.5 
ENST00000083182.8 APPBP2 ENST00000083182.8 Homo sapiens amyloid beta precursor protein binding protein 2 (APPBP2), transcript variant 1, mRNA. (from RefSeq NM_006380) A8K862 APBP2_HUMAN APPBP2 ENST00000083182.1 ENST00000083182.2 ENST00000083182.3 ENST00000083182.4 ENST00000083182.5 ENST00000083182.6 ENST00000083182.7 KIAA0228 NM_006380 O95095 PAT1 Q8WVC9 Q92624 uc002iys.1 uc002iys.2 uc002iys.3 uc002iys.4 The protein encoded by this gene interacts with microtubules and is functionally associated with beta-amyloid precursor protein transport and/or processing. The beta-amyloid precursor protein is a cell surface protein with signal-transducing properties, and it is thought to play a role in the pathogenesis of Alzheimer's disease. The encoded protein may be involved in regulating cell death. This gene has been found to be highly expressed in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. 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 (PubMed:29779948, PubMed:29775578). 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 (PubMed:29779948, PubMed:29775578). The CRL2(APPBP2) complex specifically recognizes proteins with a -Arg-Xaa- Xaa-Gly degron at the C-terminus, leading to their ubiquitination and degradation (PubMed:29779948, PubMed:29775578). 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 (PubMed:26138980). May play a role in intracellular protein transport: may be involved in the translocation of APP along microtubules toward the cell surface (PubMed:9843960). 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 (PubMed:29779948, PubMed:29775578). Interacts with APP; APP interaction inhibits the E3 ubiquitin-protein ligase activity of the CRL2(APPBP2) complex (PubMed:9843960, PubMed:29775578). Q92624; P22760: AADAC; NbExp=3; IntAct=EBI-743771, EBI-13217105; Q92624; P12814: ACTN1; NbExp=3; IntAct=EBI-743771, EBI-351710; Q92624; P23526: AHCY; NbExp=3; IntAct=EBI-743771, EBI-1053240; Q92624; Q9UIJ7: AK3; NbExp=6; IntAct=EBI-743771, EBI-3916527; Q92624; O75891-4: ALDH1L1; NbExp=3; IntAct=EBI-743771, EBI-12400198; Q92624; Q8IUW1: ANKRD10; NbExp=3; IntAct=EBI-743771, EBI-10261416; Q92624; Q9NXR5: ANKRD10; NbExp=3; IntAct=EBI-743771, EBI-10316475; Q92624; P05067: APP; NbExp=3; IntAct=EBI-743771, EBI-77613; Q92624; Q6P1M9: ARMCX5; NbExp=6; IntAct=EBI-743771, EBI-10252512; Q92624; Q9HD20-3: ATP13A1; NbExp=3; IntAct=EBI-743771, EBI-12069500; Q92624; Q4VC05-2: BCL7A; NbExp=3; IntAct=EBI-743771, EBI-12065992; Q92624; Q9UBW5: BIN2; NbExp=3; IntAct=EBI-743771, EBI-2042570; Q92624; Q9BTE2: C16orf35; NbExp=3; IntAct=EBI-743771, EBI-10298364; Q92624; Q9BV19: C1orf50; NbExp=6; IntAct=EBI-743771, EBI-2874661; Q92624; Q5I0X4: C6orf226; NbExp=6; IntAct=EBI-743771, EBI-10244057; Q92624; B4DJ51: CALM1; NbExp=3; IntAct=EBI-743771, EBI-10171450; Q92624; Q9P0B6: CCDC167; NbExp=3; IntAct=EBI-743771, EBI-9083477; Q92624; Q9UK58: CCNL1; NbExp=3; IntAct=EBI-743771, EBI-2836773; Q92624; Q00536: CDK16; NbExp=3; IntAct=EBI-743771, EBI-726261; Q92624; P35523: CLCN1; NbExp=6; IntAct=EBI-743771, EBI-10206780; Q92624; Q17RW2: COL24A1; NbExp=6; IntAct=EBI-743771, EBI-2529266; Q92624; Q9UQ03: CORO2B; NbExp=6; IntAct=EBI-743771, EBI-723376; Q92624; P48730-2: CSNK1D; NbExp=3; IntAct=EBI-743771, EBI-9087876; Q92624; P78368: CSNK1G2; NbExp=3; IntAct=EBI-743771, EBI-748380; Q92624; P09228: CST2; NbExp=3; IntAct=EBI-743771, EBI-8832659; Q92624; Q2NKJ3: CTC1; NbExp=3; IntAct=EBI-743771, EBI-2562802; Q92624; P81605: DCD; NbExp=3; IntAct=EBI-743771, EBI-395625; Q92624; Q13268: DHRS2; NbExp=3; IntAct=EBI-743771, EBI-354324; Q92624; Q9UPQ8: DOLK; NbExp=3; IntAct=EBI-743771, EBI-8645574; Q92624; P16444: DPEP1; NbExp=3; IntAct=EBI-743771, EBI-749514; Q92624; Q14117: DPYS; NbExp=3; IntAct=EBI-743771, EBI-12275416; Q92624; Q96HE7: ERO1A; NbExp=3; IntAct=EBI-743771, EBI-2564539; Q92624; Q12841: FSTL1; NbExp=8; IntAct=EBI-743771, EBI-2349801; Q92624; P58549: FXYD7; NbExp=6; IntAct=EBI-743771, EBI-10216171; Q92624; Q14435-2: GALNT3; NbExp=3; IntAct=EBI-743771, EBI-10232904; Q92624; Q8N6F7: GCSAM; NbExp=6; IntAct=EBI-743771, EBI-10267082; Q92624; A0A0C4DFY5: GPRC5C; NbExp=3; IntAct=EBI-743771, EBI-12364679; Q92624; P09211: GSTP1; NbExp=6; IntAct=EBI-743771, EBI-353467; Q92624; Q04756: HGFAC; NbExp=3; IntAct=EBI-743771, EBI-1041722; Q92624; Q8NE63: HIPK4; NbExp=3; IntAct=EBI-743771, EBI-6381114; Q92624; A4FTV9: HIST1H2AK; NbExp=3; IntAct=EBI-743771, EBI-10173457; Q92624; Q9H2F3: HSD3B7; NbExp=3; IntAct=EBI-743771, EBI-3918847; Q92624; P34932: HSPA4; NbExp=6; IntAct=EBI-743771, EBI-356933; Q92624; Q14164: IKBKE; NbExp=4; IntAct=EBI-743771, EBI-307369; Q92624; P16144-2: ITGB4; NbExp=3; IntAct=EBI-743771, EBI-11051601; Q92624; P18084: ITGB5; NbExp=3; IntAct=EBI-743771, EBI-1223434; Q92624; P50053-2: KHK; NbExp=3; IntAct=EBI-743771, EBI-12204387; Q92624; Q6ZMV9: KIF6; NbExp=3; IntAct=EBI-743771, EBI-751100; Q92624; O14901: KLF11; NbExp=3; IntAct=EBI-743771, EBI-948266; Q92624; Q6PF15: KLHL35; NbExp=6; IntAct=EBI-743771, EBI-9477654; Q92624; Q9NS86: LANCL2; NbExp=6; IntAct=EBI-743771, EBI-2510837; Q92624; Q496Y0: LONRF3; NbExp=3; IntAct=EBI-743771, EBI-2690768; Q92624; Q9Y383: LUC7L2; NbExp=6; IntAct=EBI-743771, EBI-352851; Q92624; Q9P127: LUZP4; NbExp=6; IntAct=EBI-743771, EBI-10198848; Q92624; Q9Y2E5: MAN2B2; NbExp=3; IntAct=EBI-743771, EBI-12243024; Q92624; Q9GZU1: MCOLN1; NbExp=3; IntAct=EBI-743771, EBI-721209; Q92624; Q9UQ53: MGAT4B; NbExp=3; IntAct=EBI-743771, EBI-725713; Q92624; P42568: MLLT3; NbExp=4; IntAct=EBI-743771, EBI-716132; Q92624; C0H5X0: MMP28; NbExp=3; IntAct=EBI-743771, EBI-12286419; Q92624; P43246: MSH2; NbExp=3; IntAct=EBI-743771, EBI-355888; Q92624; Q13421-3: MSLN; NbExp=3; IntAct=EBI-743771, EBI-12303989; Q92624; Q969V5: MUL1; NbExp=6; IntAct=EBI-743771, EBI-744120; Q92624; Q15746-7: MYLK; NbExp=3; IntAct=EBI-743771, EBI-12189939; Q92624; P23511: NFYA; NbExp=3; IntAct=EBI-743771, EBI-389739; Q92624; O14745: NHERF1; NbExp=3; IntAct=EBI-743771, EBI-349787; Q92624; Q9BRL4: PCTK1; NbExp=3; IntAct=EBI-743771, EBI-10296950; Q92624; Q7Z6Z6: PNPLA5; NbExp=3; IntAct=EBI-743771, EBI-12241582; Q92624; Q8IXY8: PPIL6; NbExp=3; IntAct=EBI-743771, EBI-12226639; Q92624; Q12972: PPP1R8; NbExp=3; IntAct=EBI-743771, EBI-716633; Q92624; Q12972-2: PPP1R8; NbExp=3; IntAct=EBI-743771, EBI-12252736; Q92624; P54646: PRKAA2; NbExp=3; IntAct=EBI-743771, EBI-1383852; Q92624; P22694: PRKACB; NbExp=3; IntAct=EBI-743771, EBI-2679622; Q92624; P07602: PSAP; NbExp=3; IntAct=EBI-743771, EBI-716699; Q92624; Q13635-3: PTCH1; NbExp=3; IntAct=EBI-743771, EBI-14199621; Q92624; Q8N2H3: PYROXD2; NbExp=3; IntAct=EBI-743771, EBI-3919450; Q92624; Q96AH8: RAB7B; NbExp=3; IntAct=EBI-743771, EBI-3924400; Q92624; Q15382: RHEB; NbExp=3; IntAct=EBI-743771, EBI-1055287; Q92624; Q5EBL4-3: RILPL1; NbExp=3; IntAct=EBI-743771, EBI-12072024; Q92624; Q8TEB7: RNF128; NbExp=3; IntAct=EBI-743771, EBI-2341619; Q92624; Q969K3: RNF34; NbExp=3; IntAct=EBI-743771, EBI-2340642; Q92624; O60942: RNGTT; NbExp=3; IntAct=EBI-743771, EBI-1237132; Q92624; Q15050: RRS1; NbExp=7; IntAct=EBI-743771, EBI-749186; Q92624; P59797: SELENOV; NbExp=3; IntAct=EBI-743771, EBI-10216195; Q92624; Q8WU57: SELI; NbExp=3; IntAct=EBI-743771, EBI-751012; Q92624; Q4U2R8: SLC22A6; NbExp=3; IntAct=EBI-743771, EBI-749741; Q92624; Q9BV35: SLC25A23; NbExp=3; IntAct=EBI-743771, EBI-2933255; Q92624; Q9NS82: SLC7A10; NbExp=3; IntAct=EBI-743771, EBI-12068238; Q92624; Q9Y5X3: SNX5; NbExp=3; IntAct=EBI-743771, EBI-715760; Q92624; Q9Y5X3-2: SNX5; NbExp=3; IntAct=EBI-743771, EBI-12229025; Q92624; P0CI01: SPDYE6; NbExp=3; IntAct=EBI-743771, EBI-11960469; Q92624; O15466: ST8SIA5; NbExp=3; IntAct=EBI-743771, EBI-10182857; Q92624; Q9UMZ2: SYNRG; NbExp=3; IntAct=EBI-743771, EBI-7240490; Q92624; Q9UMZ2-8: SYNRG; NbExp=3; IntAct=EBI-743771, EBI-12353261; Q92624; Q9BT88: SYT11; NbExp=3; IntAct=EBI-743771, EBI-751770; Q92624; Q15544: TAF11; NbExp=6; IntAct=EBI-743771, EBI-1027005; Q92624; Q96LR4: TAFA4; NbExp=3; IntAct=EBI-743771, EBI-10290841; Q92624; Q12788: TBL3; NbExp=4; IntAct=EBI-743771, EBI-715766; Q92624; Q9BQ70: TCF25; NbExp=3; IntAct=EBI-743771, EBI-745182; Q92624; Q05952: TNP2; NbExp=3; IntAct=EBI-743771, EBI-12039775; Q92624; Q8IZ69: TRMT2A; NbExp=3; IntAct=EBI-743771, EBI-2515774; Q92624; Q712K3: UBE2R2; NbExp=3; IntAct=EBI-743771, EBI-2340879; Q92624; Q9NYU1: UGGT2; NbExp=3; IntAct=EBI-743771, EBI-1054215; Q92624; P42768: WAS; NbExp=3; IntAct=EBI-743771, EBI-346375; Q92624; Q96S15: WDR24; NbExp=4; IntAct=EBI-743771, EBI-746424; Q92624; Q96NZ8: WFIKKN1; NbExp=3; IntAct=EBI-743771, EBI-2363713; Q92624; Q96K80: ZC3H10; NbExp=3; IntAct=EBI-743771, EBI-742550; Q92624; Q9BV97: ZNF747; NbExp=3; IntAct=EBI-743771, EBI-4395497; Q92624; Q9H669; NbExp=3; IntAct=EBI-743771, EBI-10307430; 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. Sequence=BAA13217.1; Type=Erroneous initiation; Evidence=; microtubule motor activity protein binding nucleus cytoplasm cytoskeleton microtubule microtubule associated complex intracellular protein transport protein transport membrane cytoplasmic vesicle membrane intracellular transport uc002iys.1 uc002iys.2 uc002iys.3 uc002iys.4 
ENST00000084798.9 CA11 ENST00000084798.9 Homo sapiens carbonic anhydrase 11 (CA11), transcript variant 2, non-coding RNA. (from RefSeq NR_136241) CAH11_HUMAN CARP2 ENST00000084798.1 ENST00000084798.2 ENST00000084798.3 ENST00000084798.4 ENST00000084798.5 ENST00000084798.6 ENST00000084798.7 ENST00000084798.8 NR_136241 O60596 O75493 Q6FHI1 Q9UEC4 UNQ211/PRO237 uc002pjz.1 uc002pjz.2 uc002pjz.3 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008]. 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 :: SRR7410570.656759.1, SRR3476690.395550.1 [ECO:0000332] ##Evidence-Data-END## Does not have a catalytic activity. Secreted Expressed abundantly in the brain with moderate expression also present in spinal cord and thyroid. Belongs to the alpha-carbonic anhydrase family. extracellular region zinc ion binding basolateral plasma membrane carbonate dehydratase activity uc002pjz.1 uc002pjz.2 uc002pjz.3 
ENST00000085219.10 CD22 ENST00000085219.10 Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA. (from RefSeq NM_001771) CD22 ENST00000085219.1 ENST00000085219.2 ENST00000085219.3 ENST00000085219.4 ENST00000085219.5 ENST00000085219.6 ENST00000085219.7 ENST00000085219.8 ENST00000085219.9 NM_001771 Q0EAF5 Q0EAF5_HUMAN uc010edt.1 uc010edt.2 uc010edt.3 uc010edt.4 uc010edt.5 uc010edt.6 Membrane ; Single- pass type I membrane protein membrane integral component of membrane uc010edt.1 uc010edt.2 uc010edt.3 uc010edt.4 uc010edt.5 uc010edt.6 
ENST00000086933.3 GSC2 ENST00000086933.3 Homo sapiens goosecoid homeobox 2 (GSC2), mRNA. (from RefSeq NM_005315) ENST00000086933.1 ENST00000086933.2 GSC2_HUMAN GSCL NM_005315 O15499 uc011ags.1 uc011ags.2 uc011ags.3 uc011ags.4 Goosecoidlike (GSCL), a homeodomain-containing gene, resides in the critical region for VCFS/DGS on 22q11. Velocardiofacial syndrome (VCFS) is a developmental disorder characterized by conotruncal heart defects, craniofacial anomalies, and learning disabilities. VCFS is phenotypically related to DiGeorge syndrome (DGS) and both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is expressed in a limited number of adult tissues, as well as in early human development. [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 alignments. ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## May have a role in development. May regulate its own transcription. May bind the bicoid consensus sequence TAATCC. O15499; P05187: ALPP; NbExp=3; IntAct=EBI-19954058, EBI-1211484; O15499; P08758: ANXA5; NbExp=3; IntAct=EBI-19954058, EBI-296601; O15499; Q12797-6: ASPH; NbExp=3; IntAct=EBI-19954058, EBI-12092171; O15499; Q8N1M1-5: BEST3; NbExp=3; IntAct=EBI-19954058, EBI-20140863; O15499; Q12982: BNIP2; NbExp=3; IntAct=EBI-19954058, EBI-752094; O15499; Q8N9M1-2: C19orf47; NbExp=3; IntAct=EBI-19954058, EBI-10979594; O15499; Q13901: C1D; NbExp=3; IntAct=EBI-19954058, EBI-3844053; O15499; P27797: CALR; NbExp=3; IntAct=EBI-19954058, EBI-1049597; O15499; P55273: CDKN2D; NbExp=3; IntAct=EBI-19954058, EBI-745859; O15499; Q9H5X1: CIAO2A; NbExp=3; IntAct=EBI-19954058, EBI-752069; O15499; P27658: COL8A1; NbExp=3; IntAct=EBI-19954058, EBI-747133; O15499; O75575-2: CRCP; NbExp=3; IntAct=EBI-19954058, EBI-12880830; O15499; P68400: CSNK2A1; NbExp=3; IntAct=EBI-19954058, EBI-347804; O15499; Q9Y463: DYRK1B; NbExp=3; IntAct=EBI-19954058, EBI-634187; O15499; Q9H6Z9: EGLN3; NbExp=3; IntAct=EBI-19954058, EBI-1175354; O15499; P63241: EIF5A; NbExp=3; IntAct=EBI-19954058, EBI-373150; O15499; Q16134: ETFDH; NbExp=3; IntAct=EBI-19954058, EBI-2870454; O15499; A6H8Z2: FAM221B; NbExp=3; IntAct=EBI-19954058, EBI-12006844; O15499; O75344: FKBP6; NbExp=3; IntAct=EBI-19954058, EBI-744771; O15499; Q8NCW6-2: GALNT11; NbExp=3; IntAct=EBI-19954058, EBI-13364322; O15499; O75603: GCM2; NbExp=3; IntAct=EBI-19954058, EBI-10188645; O15499; Q6ZYL4: GTF2H5; NbExp=3; IntAct=EBI-19954058, EBI-6380438; O15499; Q9H1H1: GTSF1L; NbExp=3; IntAct=EBI-19954058, EBI-19128683; O15499; P43080: GUCA1A; NbExp=3; IntAct=EBI-19954058, EBI-6873005; O15499; P33402: GUCY1A2; NbExp=3; IntAct=EBI-19954058, EBI-6911715; O15499; Q6NT76: HMBOX1; NbExp=3; IntAct=EBI-19954058, EBI-2549423; O15499; Q2M1V0: ISX; NbExp=3; IntAct=EBI-19954058, EBI-6426064; O15499; O15550: KDM6A; NbExp=3; IntAct=EBI-19954058, EBI-4292203; O15499; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-19954058, EBI-6426443; O15499; O76011: KRT34; NbExp=3; IntAct=EBI-19954058, EBI-1047093; O15499; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-19954058, EBI-3958099; O15499; Q5T5B0: LCE3E; NbExp=3; IntAct=EBI-19954058, EBI-10245456; O15499; Q8WV07: LTO1; NbExp=3; IntAct=EBI-19954058, EBI-12249832; O15499; Q9UI95: MAD2L2; NbExp=3; IntAct=EBI-19954058, EBI-77889; O15499; P45984: MAPK9; NbExp=3; IntAct=EBI-19954058, EBI-713568; O15499; Q9Y4F3: MARF1; NbExp=3; IntAct=EBI-19954058, EBI-5235902; O15499; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-19954058, EBI-10172526; O15499; Q9UBU8-2: MORF4L1; NbExp=3; IntAct=EBI-19954058, EBI-10288852; O15499; Q96EL3: MRPL53; NbExp=3; IntAct=EBI-19954058, EBI-2513715; O15499; Q9Y3D9: MRPS23; NbExp=3; IntAct=EBI-19954058, EBI-1054270; O15499; Q9Y5B8: NME7; NbExp=3; IntAct=EBI-19954058, EBI-744782; O15499; Q9UNF0: PACSIN2; NbExp=3; IntAct=EBI-19954058, EBI-742503; O15499; Q08493-2: PDE4C; NbExp=3; IntAct=EBI-19954058, EBI-12169289; O15499; O43741: PRKAB2; NbExp=3; IntAct=EBI-19954058, EBI-1053424; O15499; Q96BW5: PTER; NbExp=3; IntAct=EBI-19954058, EBI-4291023; O15499; Q9H7N4: SCAF1; NbExp=3; IntAct=EBI-19954058, EBI-1222181; O15499; O00560: SDCBP; NbExp=3; IntAct=EBI-19954058, EBI-727004; O15499; Q9BVW5: TIPIN; NbExp=3; IntAct=EBI-19954058, EBI-2515360; O15499; O14787-2: TNPO2; NbExp=3; IntAct=EBI-19954058, EBI-12076664; O15499; Q969E8: TSR2; NbExp=3; IntAct=EBI-19954058, EBI-746981; O15499; Q712K3: UBE2R2; NbExp=3; IntAct=EBI-19954058, EBI-2340879; O15499; Q3SXR9: VCX2; NbExp=3; IntAct=EBI-19954058, EBI-11983741; O15499; Q13426: XRCC4; NbExp=3; IntAct=EBI-19954058, EBI-717592; O15499; P62699: YPEL5; NbExp=3; IntAct=EBI-19954058, EBI-11721624; O15499; Q8N0Y2-2: ZNF444; NbExp=3; IntAct=EBI-19954058, EBI-12010736; O15499; Q96SQ5: ZNF587; NbExp=3; IntAct=EBI-19954058, EBI-6427977; Nucleus Detected in adult testis and pituitary, and in 9-10 week fetal tissue (thorax). Probably expressed in other tissues at low levels. Expressed in early human development as well as in a limited number of adult tissues. Belongs to the paired homeobox family. Bicoid subfamily. nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding DNA binding transcription factor activity, sequence-specific DNA binding nucleus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter anatomical structure morphogenesis sequence-specific DNA binding uc011ags.1 uc011ags.2 uc011ags.3 uc011ags.4 
ENST00000155093.8 ZFY ENST00000155093.8 Homo sapiens zinc finger protein Y-linked (ZFY), transcript variant 1, mRNA. (from RefSeq NM_003411) B4DVF7 ENST00000155093.1 ENST00000155093.2 ENST00000155093.3 ENST00000155093.4 ENST00000155093.5 ENST00000155093.6 ENST00000155093.7 NM_003411 P08048 Q14021 Q15558 Q1RME9 Q24JR0 Q96TF3 ZFY_HUMAN uc004fqj.1 uc004fqj.2 uc004fqj.3 uc004fqj.4 uc004fqj.5 This gene encodes a zinc finger-containing protein that may function as a transcription factor. This gene was once a candidate gene for the testis-determining factor (TDF) and was erroneously referred to as TDF. [provided by RefSeq, Jul 2008]. Probable transcriptional activator. Binds to the consensus sequence 5'-AGGCCY-3'. P08048; Q9NQL9: DMRT3; NbExp=3; IntAct=EBI-12239601, EBI-9679045; P08048; Q9H8E8: KAT14; NbExp=3; IntAct=EBI-12239601, EBI-750907; P08048; Q969R5: L3MBTL2; NbExp=6; IntAct=EBI-12239601, EBI-739909; Nucleus. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P08048-1; Sequence=Displayed; Name=2; IsoId=P08048-2; Sequence=VSP_042774, VSP_042775; Name=3; IsoId=P08048-3; Sequence=VSP_042824, VSP_042825, VSP_042826; The binding of ZFY to DNA is mediated by the interaction of the GGCC core base pairs with zinc fingers 12 and 13. Belongs to the krueppel C2H2-type zinc-finger protein family. ZFX/ZFY subfamily. Was originally thought to be the testis determining factor (TDF). RNA polymerase II transcription factor activity, sequence-specific DNA binding nucleic acid binding DNA binding protein binding nucleus nucleoplasm nucleolus regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter metal ion binding uc004fqj.1 uc004fqj.2 uc004fqj.3 uc004fqj.4 uc004fqj.5 
ENST00000155840.12 KCNQ1 ENST00000155840.12 Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (PubMed:10646604, PubMed:25441029). Associates with KCNE beta subunits that modulates current kinetics (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:19687231). Induces a voltage-dependent current by rapidly activating and slowly deactivating potassium-selective outward current (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:25441029). 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:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (PubMed:10713961). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (PubMed:10646604). 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 (By similarity). 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 (By similarity). When associated with KCNE2, forms a 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 (PubMed:11101505). When associated with KCNE4, inhibits voltage-gated potassium channel activity (PubMed:19687231). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (PubMed:12324418). Also forms a heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Binds with phosphatidylinositol 4,5- bisphosphate (PubMed:25037568). 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. (from UniProt P51787) ENST00000155840.1 ENST00000155840.10 ENST00000155840.11 ENST00000155840.2 ENST00000155840.3 ENST00000155840.4 ENST00000155840.5 ENST00000155840.6 ENST00000155840.7 ENST00000155840.8 ENST00000155840.9 KCNA8 KCNA9 KCNQ1 KCNQ1_HUMAN KVLQT1 NM_001406837 O00347 O60607 O94787 P51787 Q14D14 Q7Z6G9 Q92960 Q9UMN8 Q9UMN9 uc001lwn.1 uc001lwn.2 uc001lwn.3 uc001lwn.4 uc001lwn.5 uc001lwn.6 uc001lwn.7 Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (PubMed:10646604, PubMed:25441029). Associates with KCNE beta subunits that modulates current kinetics (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:19687231). Induces a voltage-dependent current by rapidly activating and slowly deactivating potassium-selective outward current (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:25441029). 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:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (PubMed:10713961). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (PubMed:10646604). 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 (By similarity). 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 (By similarity). When associated with KCNE2, forms a 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 (PubMed:11101505). When associated with KCNE4, inhibits voltage-gated potassium channel activity (PubMed:19687231). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (PubMed:12324418). Also forms a heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Binds with phosphatidylinositol 4,5- bisphosphate (PubMed:25037568). 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. [Isoform 2]: Non-functional alone but modulatory when coexpressed with the full-length isoform 1. Tetramer (PubMed:18165683, PubMed:19693805, PubMed:25441029). Heterotetramer with KCNE1; targets to the membrane raft (PubMed:25037568, PubMed:19693805, PubMed:20533308). Interacts (via C- terminus) with CALM; forms a heterooctameric structure (with 4:4 KCNQ1:CALM stoichiometry) in a calcium-independent manner (PubMed:18165683, PubMed:25441029). 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 (PubMed:11799244, PubMed:25037568). Interacts with KCNE2; forms a 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 (PubMed:11101505, PubMed:20533308). Interacts with AP2M1; mediates estrogen-induced internalization via clathrin-coated vesicles (PubMed:23529131). Interacts with NEDD4L; promotes internalization and decreases I(Ks) currents (PubMed:23529131, PubMed:22024150). Interacts with USP2; counteracts the NEDD4L-specific down-regulation of I(Ks) and restore plasma membrane localization (PubMed:22024150). Heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Interacts with KCNE3; alters membrane raft localization (PubMed:20533308). Interacts with KCNE4; impairs KCNQ1 localization in lipid rafts and inhibits voltage-gated potassium channel activity (PubMed:19687231, PubMed:20533308). Interacts with KCNE5; impairs KCNQ1 localization in lipid rafts and only conducts current upon strong and continued depolarization (PubMed:20533308, PubMed:12324418). Interacts with SLC5A3; forms coregulatory channel- transporter complexes that modulate Na(+)-coupled myo-inositol influx through the transporter. P51787; P15382: KCNE1; NbExp=4; IntAct=EBI-359667, EBI-7043557; P51787-1; P62158: CALM3; NbExp=6; IntAct=EBI-15885881, EBI-397435; Cell membrane ulti-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 (PubMed:10646604). Upon 17beta-oestradiol treatment, colocalizes with RAB5A at early endosome (PubMed:23529131). Heterotetramer with KCNQ5 is highly retained at the endoplasmic reticulum and is localized outside of lipid raft microdomains (PubMed:24855057). 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 (PubMed:21228319). Colocalizes with SLC5A3 at the apical membrane of choroid plexus epithelium. Event=Alternative splicing; Named isoforms=2; Comment=Additional isoforms seem to exist.; Name=1; IsoId=P51787-1; Sequence=Displayed; Name=2; Synonyms=TKvLQT1; IsoId=P51787-2; Sequence=VSP_000981, VSP_000982; Abundantly expressed in heart, pancreas, prostate, kidney, small intestine and peripheral blood leukocytes. Less abundant in placenta, lung, spleen, colon, thymus, testis and ovaries. 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 (PubMed:22024150). 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 (PubMed:23529131). Deubiquitinated by USP2; counteracts the NEDD4L-specific down- regulation of I(Ks) and restores the membrane localization. Long QT syndrome 1 (LQT1) [MIM:192500]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. te=The disease is caused by variants affecting the gene represented in this entry. Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400]: An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death. te=The disease is caused by variants affecting the gene represented in this entry. Atrial fibrillation, familial, 3 (ATFB3) [MIM:607554]: An autosomal dominant form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. Note=The disease is caused by variants affecting the gene represented in this entry. Short QT syndrome 2 (SQT2) [MIM:609621]: An autosomal dominant form of short QT syndrome, a heart disorder characterized by idiopathic persistently and uniformly short QT interval on ECG in the absence of structural heart disease in affected individuals. It can cause syncope and sudden death. Note=The disease is caused by variants affecting the gene represented in this entry. Type 2 diabetes mellitus (T2D) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. te=Disease susceptibility is associated with variants affecting the gene represented in this entry. Mutagenesis experiments were carried out by expressing in Xenopus oocytes or COS-7 cells KCNQ1 mutants either individually (homomultimers) or in combination with both wild-type KCNQ1 (mut/wt homomultimers) and minK (heteromultimers). Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.1/KCNQ1 sub-subfamily. Sequence=AAC51781.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence=; Sequence=BAA34739.1; Type=Frameshift; Evidence=; Name=Wikipedia; Note=KvLQT1 entry; URL="https://en.wikipedia.org/wiki/KvLQT1"; ion channel activity voltage-gated ion channel activity voltage-gated potassium channel activity delayed rectifier potassium channel activity potassium channel activity protein binding calmodulin binding phosphatidylinositol-4,5-bisphosphate binding cytoplasm lysosome endosome early endosome late endosome endoplasmic reticulum plasma membrane regulation of gene expression by genetic imprinting ion transport potassium ion transport sensory perception of sound regulation of heart contraction 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 ion channel binding membrane raft 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 cardiac conduction renal absorption cellular response to cAMP potassium ion transmembrane transport cellular response to epinephrine stimulus 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 uc001lwn.1 uc001lwn.2 uc001lwn.3 uc001lwn.4 uc001lwn.5 uc001lwn.6 uc001lwn.7 
ENST00000155926.9 TRIB2 ENST00000155926.9 Homo sapiens tribbles pseudokinase 2 (TRIB2), transcript variant 1, mRNA. (from RefSeq NM_021643) B2R851 D6W510 ENST00000155926.1 ENST00000155926.2 ENST00000155926.3 ENST00000155926.4 ENST00000155926.5 ENST00000155926.6 ENST00000155926.7 ENST00000155926.8 NM_021643 Q92519 TRB2 TRIB2 TRIB2_HUMAN uc002rbv.1 uc002rbv.2 uc002rbv.3 uc002rbv.4 uc002rbv.5 uc002rbv.6 This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]. Interacts with MAPK kinases and regulates activation of MAP kinases. Does not display kinase activity (By similarity). Interacts with COP1 (PubMed:27041596). Q92519; Q9HBI0: PARVG; NbExp=5; IntAct=EBI-947178, EBI-3921217; Q92519; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-947178, EBI-5235340; Cytoplasm Cytoplasm, cytoskeleton Note=May associate with the cytoskeleton. Highly expressed in peripheral blood leukocytes. The protein kinase domain is predicted to be catalytically inactive. Antibodies against TRIB2 are present in sera from patients with autoimmune uveitis. 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 interleukin-10 biosynthetic process negative regulation of fat cell differentiation ubiquitin-protein transferase regulator activity nucleotide binding protein kinase activity uc002rbv.1 uc002rbv.2 uc002rbv.3 uc002rbv.4 uc002rbv.5 uc002rbv.6 
ENST00000156109.7 GPKOW ENST00000156109.7 Homo sapiens G-patch domain and KOW motifs (GPKOW), mRNA. (from RefSeq NM_015698) ENST00000156109.1 ENST00000156109.2 ENST00000156109.3 ENST00000156109.4 ENST00000156109.5 ENST00000156109.6 GPATC5 GPATCH5 GPKOW_HUMAN NM_015698 Q59EK5 Q92917 Q9BQA8 T54 uc004dmr.1 uc004dmr.2 uc004dmr.3 uc004dmr.4 uc004dmr.5 uc004dmr.6 This gene encodes a putative RNA-binding protein containing G-patch and KOW (Kyprides, Ouzounis, Woese) domains. The encoded protein interacts directly with protein kinase A and protein kinase X and is also found associated with the spliceosome. [provided by RefSeq, Aug 2013]. ##Evidence-Data-START## Transcript exon combination :: SRR1660803.255113.1, SRR3476690.303268.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000156109.7/ ENSP00000156109.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## RNA-binding protein involved in pre-mRNA splicing. As a component of the minor spliceosome, involved in the splicing of U12- type introns in pre-mRNAs (Probable). Component of the minor spliceosome, which splices U12-type introns (PubMed:33509932). Interacts with PRKX (PubMed:16491121). Interacts with DHX16 (PubMed:25296192). Interacts with PRKACB (PubMed:21880142). Q92917; Q9P291: ARMCX1; NbExp=3; IntAct=EBI-746309, EBI-2843626; Q92917; Q9BRD0: BUD13; NbExp=12; IntAct=EBI-746309, EBI-2561235; Q92917; Q2TAC2: CCDC57; NbExp=3; IntAct=EBI-746309, EBI-2808286; Q92917; Q6P9H4: CNKSR3; NbExp=3; IntAct=EBI-746309, EBI-10253274; Q92917; Q96D03: DDIT4L; NbExp=3; IntAct=EBI-746309, EBI-742054; Q92917; O60231: DHX16; NbExp=3; IntAct=EBI-746309, EBI-311446; Q92917; Q92620: DHX38; NbExp=2; IntAct=EBI-746309, EBI-1043041; Q92917; Q5JST6: EFHC2; NbExp=3; IntAct=EBI-746309, EBI-2349927; Q92917; Q96IJ6: GMPPA; NbExp=3; IntAct=EBI-746309, EBI-750953; Q92917; Q08379: GOLGA2; NbExp=9; IntAct=EBI-746309, EBI-618309; Q92917; P46439: GSTM5; NbExp=3; IntAct=EBI-746309, EBI-4312072; Q92917; Q96ED9-2: HOOK2; NbExp=3; IntAct=EBI-746309, EBI-10961706; Q92917; O75031: HSF2BP; NbExp=3; IntAct=EBI-746309, EBI-7116203; Q92917; Q9Y6K9: IKBKG; NbExp=3; IntAct=EBI-746309, EBI-81279; Q92917; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-746309, EBI-2556193; Q92917; Q8TBB1: LNX1; NbExp=5; IntAct=EBI-746309, EBI-739832; Q92917; Q9P2M1: LRP2BP; NbExp=3; IntAct=EBI-746309, EBI-18273118; Q92917; Q9Y250: LZTS1; NbExp=3; IntAct=EBI-746309, EBI-1216080; Q92917; Q9Y6D9: MAD1L1; NbExp=3; IntAct=EBI-746309, EBI-742610; Q92917; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-746309, EBI-16439278; Q92917; Q14696: MESD; NbExp=3; IntAct=EBI-746309, EBI-6165891; Q92917; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-746309, EBI-10172526; Q92917; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-746309, EBI-11522433; Q92917; O43189: PHF1; NbExp=3; IntAct=EBI-746309, EBI-530034; Q92917; Q4G0R1: PIBF1; NbExp=3; IntAct=EBI-746309, EBI-14066006; Q92917; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-746309, EBI-79165; Q92917; P62487: POLR2G; NbExp=3; IntAct=EBI-746309, EBI-347928; Q92917; P22694-2: PRKACB; NbExp=4; IntAct=EBI-746309, EBI-5258763; Q92917; P31321: PRKAR1B; NbExp=3; IntAct=EBI-746309, EBI-2805516; Q92917; P51817: PRKX; NbExp=2; IntAct=EBI-746309, EBI-4302903; Q92917; O43172: PRPF4; NbExp=2; IntAct=EBI-746309, EBI-718395; Q92917; Q6P2Q9: PRPF8; NbExp=2; IntAct=EBI-746309, EBI-538479; Q92917; P98175: RBM10; NbExp=2; IntAct=EBI-746309, EBI-721525; Q92917; Q04864-2: REL; NbExp=3; IntAct=EBI-746309, EBI-10829018; Q92917; Q9HAT0: ROPN1; NbExp=6; IntAct=EBI-746309, EBI-1378139; Q92917; Q6FGM0: SH3GL1; NbExp=3; IntAct=EBI-746309, EBI-10173690; Q92917; Q99961: SH3GL1; NbExp=8; IntAct=EBI-746309, EBI-697911; Q92917; O60504: SORBS3; NbExp=3; IntAct=EBI-746309, EBI-741237; Q92917; A6NLX3: SPDYE4; NbExp=3; IntAct=EBI-746309, EBI-12047907; Q92917; P23193: TCEA1; NbExp=3; IntAct=EBI-746309, EBI-2608271; Q92917; Q15560: TCEA2; NbExp=7; IntAct=EBI-746309, EBI-710310; Q92917; Q9NYB0: TERF2IP; NbExp=2; IntAct=EBI-746309, EBI-750109; Q92917; Q12933: TRAF2; NbExp=7; IntAct=EBI-746309, EBI-355744; Q92917; P36406: TRIM23; NbExp=4; IntAct=EBI-746309, EBI-740098; Q92917; P14373: TRIM27; NbExp=3; IntAct=EBI-746309, EBI-719493; Q92917; Q8N1B4: VPS52; NbExp=3; IntAct=EBI-746309, EBI-2799833; Q92917; Q9H0C1: ZMYND12; NbExp=3; IntAct=EBI-746309, EBI-12030590; Q92917; Q9UGI0: ZRANB1; NbExp=3; IntAct=EBI-746309, EBI-527853; Nucleus Phosphorylation regulates its ability to bind RNA. Belongs to the MOS2 family. Sequence=AAB18640.1; Type=Frameshift; Evidence=; mRNA splicing, via spliceosome nucleic acid binding RNA binding protein binding nucleus nucleoplasm spliceosomal complex mRNA processing RNA splicing uc004dmr.1 uc004dmr.2 uc004dmr.3 uc004dmr.4 uc004dmr.5 uc004dmr.6 
ENST00000156471.10 AQR ENST00000156471.10 Homo sapiens aquarius intron-binding spliceosomal factor (AQR), mRNA. (from RefSeq NM_014691) A0JP17 A5YKK3 AQR_HUMAN ENST00000156471.1 ENST00000156471.2 ENST00000156471.3 ENST00000156471.4 ENST00000156471.5 ENST00000156471.6 ENST00000156471.7 ENST00000156471.8 ENST00000156471.9 KIAA0560 NM_014691 O60306 Q2YDX9 Q6IRU8 Q6PIC8 uc001ziv.1 uc001ziv.2 uc001ziv.3 uc001ziv.4 uc001ziv.5 Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:25599396, PubMed:28502770, PubMed:28076346). Intron-binding spliceosomal protein required to link pre-mRNA splicing and snoRNP (small nucleolar ribonucleoprotein) biogenesis (PubMed:16949364). Plays a key role in position-dependent assembly of intron-encoded box C/D small snoRNP, splicing being required for snoRNP assembly (PubMed:16949364). May act by helping the folding of the snoRNA sequence. Binds to intron of pre-mRNAs in a sequence-independent manner, contacting the region between snoRNA and the branchpoint of introns (40 nucleotides upstream of the branchpoint) during the late stages of splicing (PubMed:16949364). Has ATP-dependent RNA helicase activity and can unwind double-stranded RNA molecules with a 3' overhang (in vitro) (PubMed:25599396). 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=; Identified in the spliceosome C complex (PubMed:11991638, PubMed:16949364, PubMed:25599396, PubMed:28502770, PubMed:28076346). Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE (PubMed:17981804). 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 (PubMed:25599396). The IB complex does not contain PRPF19 (PubMed:25599396). Within the spliceosome, interacts with SNRPA1, SF3B1, SF3B3, SF3A1 and SF3A2 (PubMed:25599396). O60306; Q9ULR0: ISY1; NbExp=6; IntAct=EBI-2512328, EBI-2557660; O60306; Q9UNP9: PPIE; NbExp=9; IntAct=EBI-2512328, EBI-591818; O60306; Q9HCS7: XAB2; NbExp=6; IntAct=EBI-2512328, EBI-295232; O60306; Q96NB3: ZNF830; NbExp=11; IntAct=EBI-2512328, EBI-3920997; Nucleus cleus, nucleoplasm Note=Localizes to speckle-like regions of the nucleoplasm. Contains an N-terminal domain with structural similarity to ARM repeat regions; this domain functions as a scaffold for protein-protein interactions, but is not required for RNA binding or for ATP-dependent RNA helicase activity. Belongs to the CWF11 family. Sequence=BAA25486.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; nucleotide binding mRNA splicing, via spliceosome RNA binding RNA helicase activity mRNA binding helicase activity protein binding ATP binding nucleus nucleoplasm spliceosomal complex transcription-coupled nucleotide-excision repair mRNA processing RNA splicing membrane hydrolase activity U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome uc001ziv.1 uc001ziv.2 uc001ziv.3 uc001ziv.4 uc001ziv.5 
ENST00000156626.12 ST6GALNAC1 ENST00000156626.12 Homo sapiens ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), transcript variant 1, mRNA. (from RefSeq NM_018414) ENST00000156626.1 ENST00000156626.10 ENST00000156626.11 ENST00000156626.2 ENST00000156626.3 ENST00000156626.4 ENST00000156626.5 ENST00000156626.6 ENST00000156626.7 ENST00000156626.8 ENST00000156626.9 NM_018414 Q6UW90 Q9NSC6 Q9NSC7 SIA7A_HUMAN SIAT7A ST6GALNAC1 UNQ543/PRO848 uc002jsh.1 uc002jsh.2 uc002jsh.3 uc002jsh.4 uc002jsh.5 uc002jsh.6 Glycosylation of proteins affects cell-cell interaction, interactions with the matrix, and the functions of intracellular molecules. ST6GALNAC1 transfers a sialic acid, N-acetylneuraminic acid (NeuAc), in an alpha-2,6 linkage to O-linked GalNAc residues. The cancer-associated sialyl-Tn (sTn) antigen is formed by ST6GALNAC1-catalyzed sialylation of GalNAc residues on mucins (Ikehara et al., 1999 [PubMed 10536037]; Sewell et al., 2006 [PubMed 16319059]).[supplied by OMIM, Mar 2008]. 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:16319059, PubMed:35303419). Catalyzes the formation of the sialyl-Tn (S-Tn) antigen, an antigen found in intestinal goblet cells, as well as ulcerative colitis (UC) and various cancers (PubMed:16319059, 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. Q9NSC7; P13569: CFTR; NbExp=5; IntAct=EBI-2854712, EBI-349854; Golgi apparatus membrane ; Single-pass type II membrane protein Expression is restricted to the gastrointestinal tract (PubMed:16319059). Highly expressed in goblet cells (PubMed:35303419). Also expressed in various tumor cells (PubMed:16319059). Glycosylated; autosialylated. Note=Inflammatory bowel disease (PubMed:35303419). A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology (PubMed:35303419). It is subdivided into Crohn disease and ulcerative colitis phenotypes (PubMed:35303419). Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon (PubMed:35303419). Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas (PubMed:35303419). In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed (PubMed:35303419). Both diseases include extraintestinal inflammation of the skin, eyes, or joints (PubMed:35303419). Disease susceptibility is associated with variants affecting the gene represented in this entry (PubMed:35303419). Belongs to the glycosyltransferase 29 family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/44087/ST6GALNAC1"; Name=Functional Glycomics Gateway - GTase; Note=ST6GalNAc I; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_630"; Name=Protein Spotlight; Note=The slime inside us - Issue 257 of April 2023; URL="https://www.proteinspotlight.org/back_issues/257/"; Golgi membrane 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 uc002jsh.1 uc002jsh.2 uc002jsh.3 uc002jsh.4 uc002jsh.5 uc002jsh.6 
ENST00000157600.8 LMCD1 ENST00000157600.8 Homo sapiens LIM and cysteine rich domains 1 (LMCD1), transcript variant 1, mRNA. (from RefSeq NM_014583) B4DG80 ENST00000157600.1 ENST00000157600.2 ENST00000157600.3 ENST00000157600.4 ENST00000157600.5 ENST00000157600.6 ENST00000157600.7 LMCD1_HUMAN NM_014583 Q9NZU5 uc010hci.1 uc010hci.2 uc010hci.3 uc010hci.4 uc010hci.5 This gene encodes a member of the LIM-domain family of zinc finger proteins. The encoded protein contains an N-terminal cysteine-rich domain and two C-terminal LIM domains. The presence of LIM domains suggests involvement in protein-protein interactions. The protein may act as a co-regulator of transcription along with other transcription factors. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]. Transcriptional cofactor that restricts GATA6 function by inhibiting DNA-binding, resulting in repression of GATA6 transcriptional activation of downstream target genes. Represses GATA6- mediated trans activation of lung- and cardiac tissue-specific promoters. Inhibits DNA-binding by GATA4 and GATA1 to the cTNC promoter (By similarity). Plays a critical role in the development of cardiac hypertrophy via activation of calcineurin/nuclear factor of activated T-cells signaling pathway. Interacts with GATA1 and GATA4 (By similarity). Interacts with beta-dystroglycan. Interacts with GATA6. Q9NZU5; P47224: RABIF; NbExp=3; IntAct=EBI-5774016, EBI-713992; Q9NZU5; Q8WW24: TEKT4; NbExp=3; IntAct=EBI-5774016, EBI-750487; Cytoplasm Nucleus Note=May shuttle between the cytoplasm and the nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NZU5-1; Sequence=Displayed; Name=2; IsoId=Q9NZU5-2; Sequence=VSP_053895; Expressed in the heart (at protein level). Expressed in many tissues with highest abundance in skeletal muscle. The LIM zinc-binding domains and the Cys-rich region mediate interaction with GATA6. negative regulation of transcription from RNA polymerase II promoter transcription corepressor activity nucleus nucleoplasm cytoplasm zinc ion binding regulation of cardiac muscle hypertrophy cellular protein metabolic process metal ion binding positive regulation of calcineurin-NFAT signaling cascade uc010hci.1 uc010hci.2 uc010hci.3 uc010hci.4 uc010hci.5 
ENST00000157812.7 PSMC4 ENST00000157812.7 Homo sapiens proteasome 26S subunit, ATPase 4 (PSMC4), transcript variant 1, mRNA. (from RefSeq NM_006503) ENST00000157812.1 ENST00000157812.2 ENST00000157812.3 ENST00000157812.4 ENST00000157812.5 ENST00000157812.6 MIP224 NM_006503 P43686 PRS6B_HUMAN Q96FV5 Q9UBM3 Q9UEX3 TBP7 uc002omq.1 uc002omq.2 uc002omq.3 uc002omq.4 uc002omq.5 uc002omq.6 The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. This gene encodes a member of the triple-A family of ATPases that is a component of the 19S regulatory subunit and plays a role in 26S proteasome assembly. The encoded protein interacts with gankyrin, a liver oncoprotein, and may also play a role in Parkinson's disease through interactions with synphilin-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]. 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. PSMC4 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). The regulatory particle is made of a lid composed of 9 subunits, a base containing 6 ATPases including PSMC4 and few additional components (PubMed:27428775, PubMed:27342858). Interacts with NR1I3. Interacts with PAAF1 (PubMed:15831487). Interacts with TRIM5 (PubMed:22078707). Interacts with ZFAND1 (PubMed:29804830). P43686; P27797: CALR; NbExp=3; IntAct=EBI-743997, EBI-1049597; P43686; P36957: DLST; NbExp=5; IntAct=EBI-743997, EBI-351007; P43686; Q8TDX7: NEK7; NbExp=3; IntAct=EBI-743997, EBI-1055945; P43686; P62191: PSMC1; NbExp=2; IntAct=EBI-743997, EBI-357598; P43686; P62195: PSMC5; NbExp=15; IntAct=EBI-743997, EBI-357745; P43686; P62333: PSMC6; NbExp=5; IntAct=EBI-743997, EBI-357669; P43686; O75832: PSMD10; NbExp=23; IntAct=EBI-743997, EBI-752185; P43686; Q9Z2X2: Psmd10; Xeno; NbExp=4; IntAct=EBI-743997, EBI-8377084; P43686-2; P00441: SOD1; NbExp=3; IntAct=EBI-21522939, EBI-990792; Cytoplasm. Nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P43686-1; Sequence=Displayed; Name=2; IsoId=P43686-2; Sequence=VSP_000022; Belongs to the AAA ATPase family. MAPK cascade nucleotide binding protein polyubiquitination proteasome complex blastocyst development stimulatory C-type lectin receptor signaling pathway antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent protein binding ATP binding nucleus nucleoplasm cytoplasm cytosol proteolysis regulation of cellular amino acid metabolic process proteasome regulatory particle, base subcomplex negative regulation of G2/M transition of mitotic cell cycle membrane inclusion body protein deubiquitination hydrolase activity ATPase activity proteasome accessory complex protein catabolic process anaphase-promoting complex-dependent catabolic process SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosolic proteasome complex tumor necrosis factor-mediated signaling pathway proteasome-activating ATPase activity NIK/NF-kappaB signaling Fc-epsilon receptor signaling pathway proteasome-mediated ubiquitin-dependent protein catabolic process regulation of mRNA stability post-translational protein modification synapse positive regulation of RNA polymerase II transcriptional preinitiation complex assembly T cell receptor signaling pathway transmembrane transport Wnt signaling pathway, planar cell polarity pathway regulation of transcription from RNA polymerase II promoter in response to hypoxia interleukin-1-mediated signaling pathway negative regulation of canonical Wnt signaling pathway positive regulation of canonical Wnt signaling pathway positive regulation of proteasomal protein catabolic process regulation of mitotic cell cycle phase transition regulation of hematopoietic stem cell differentiation uc002omq.1 uc002omq.2 uc002omq.3 uc002omq.4 uc002omq.5 uc002omq.6 
ENST00000158009.6 FNDC8 ENST00000158009.6 Homo sapiens fibronectin type III domain containing 8 (FNDC8), mRNA. (from RefSeq NM_017559) B2R9G6 ENST00000158009.1 ENST00000158009.2 ENST00000158009.3 ENST00000158009.4 ENST00000158009.5 FNDC8_HUMAN NM_017559 Q8TC99 Q9UFC2 uc002hix.1 uc002hix.2 uc002hix.3 uc002hix.4 uc002hix.5 Q8TC99; Q15013: MAD2L1BP; NbExp=3; IntAct=EBI-12903902, EBI-712181; Q8TC99; Q96EZ8: MCRS1; NbExp=3; IntAct=EBI-12903902, EBI-348259; Q8TC99; Q92569: PIK3R3; NbExp=3; IntAct=EBI-12903902, EBI-79893; Q8TC99; Q147U7: SMCO1; NbExp=3; IntAct=EBI-12903902, EBI-11735944; Q8TC99; P36508: ZNF76; NbExp=3; IntAct=EBI-12903902, EBI-7254550; nucleus uc002hix.1 uc002hix.2 uc002hix.3 uc002hix.4 uc002hix.5 
ENST00000158762.8 ACAP1 ENST00000158762.8 Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA. (from RefSeq NM_014716) ACAP1_HUMAN CENTB1 ENST00000158762.1 ENST00000158762.2 ENST00000158762.3 ENST00000158762.4 ENST00000158762.5 ENST00000158762.6 ENST00000158762.7 KIAA0050 NM_014716 Q15027 Q53XN9 uc002ggd.1 uc002ggd.2 uc002ggd.3 uc002ggd.4 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. 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. Q15027; O94868-3: FCHSD2; NbExp=3; IntAct=EBI-751746, EBI-11958845; Q15027; P62993: GRB2; NbExp=3; IntAct=EBI-751746, EBI-401755; Q15027; Q92993: KAT5; NbExp=3; IntAct=EBI-751746, EBI-399080; Q15027; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-751746, EBI-11742507; Q15027; O76041: NEBL; NbExp=3; IntAct=EBI-751746, EBI-2880203; Q15027; P17252: PRKCA; NbExp=3; IntAct=EBI-751746, EBI-1383528; Q15027; Q15047-2: SETDB1; NbExp=3; IntAct=EBI-751746, EBI-9090795; Q15027; P14927: UQCRB; NbExp=3; IntAct=EBI-751746, EBI-743128; Q15027; P22695: UQCRC2; NbExp=3; IntAct=EBI-751746, EBI-1051424; Q15027; P61981: YWHAG; NbExp=3; IntAct=EBI-751746, EBI-359832; Recycling endosome membrane ; Peripheral membrane protein ; Cytoplasmic side Highest level in lung and spleen. Low level in heart, kidney, liver and pancreas. 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. The BAR domain mediates homodimerization, it can neither bind membrane nor impart curvature, but instead requires the neighboring PH domain to achieve these functions. Phosphorylation at Ser-554 by PKB is required for interaction with ITGB1, export of ITGB1 from recycling endosomes to the cell surface and ITGB1-dependent cell migration. Cells overexpressing ACAP1 show an accumulation of ITGB1 in recycling endosomes and inhibition of stimulation-dependent cell migration. Cells with reduced levels of ACAP1 or AKT1 and AKT2 show inhibition of stimulation-dependent cell migration. Cells overexpressing ACAP1 and PIP5K1C show formation of tubular structures derived from endosomal membranes. Sequence=BAA06418.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; GTPase activator activity protein binding endosome protein transport membrane positive regulation of GTPase activity metal ion binding recycling endosome membrane uc002ggd.1 uc002ggd.2 uc002ggd.3 uc002ggd.4 
ENST00000158771.9 DERL2 ENST00000158771.9 Homo sapiens derlin 2 (DERL2), transcript variant 5, non-coding RNA. (from RefSeq NR_130906) CGI-101 DER2 DERL2 DERL2_HUMAN ENST00000158771.1 ENST00000158771.2 ENST00000158771.3 ENST00000158771.4 ENST00000158771.5 ENST00000158771.6 ENST00000158771.7 ENST00000158771.8 FLANA NR_130906 Q9GZP9 Q9Y3A7 SBBI53 uc002gcc.1 uc002gcc.2 uc002gcc.3 Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]).[supplied by OMIM, Mar 2008]. 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 misfolded glycoproteins (PubMed:16186509, PubMed:16449189). May also 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 (PubMed:26565908). (Microbial infection) In contrast to DERL1, it is not involved in the degradation of MHC class I heavy chains following infection by cytomegaloviruses. Forms homo- and heterooligomers with DERL3 and, to a lesser extent, with DERL1 (PubMed:16186509). Interacts with the SEL1L/SYVN1 and VCP/SELENOS protein complexes (PubMed:16186509). Mediates association between VCP and EDEM1, as well as that between VCP and the misfolded glycoproteins (PubMed:16449189). Interacts with OS9 (PubMed:19084021). 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 (PubMed:26565908). Interacts with CCDC47 (By similarity). Q9GZP9; Q9NR28: DIABLO; NbExp=3; IntAct=EBI-7962814, EBI-517508; Q9GZP9; Q9H0Q3: FXYD6; NbExp=3; IntAct=EBI-7962814, EBI-713304; Q9GZP9; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-7962814, EBI-10172290; Q9GZP9; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-7962814, EBI-10171774; Q9GZP9; Q00013: MPP1; NbExp=3; IntAct=EBI-7962814, EBI-711788; Q9GZP9; P43378: PTPN9; NbExp=3; IntAct=EBI-7962814, EBI-742898; Q9GZP9; Q8N0V3: RBFA; NbExp=3; IntAct=EBI-7962814, EBI-3232108; Q9GZP9; Q8WV19: SFT2D1; NbExp=3; IntAct=EBI-7962814, EBI-2854842; Endoplasmic reticulum membrane ; Multi-pass membrane protein Ubiquitous. Overexpressed in various hepatocarcinomas. Up-regulated in response to endoplasmic reticulum stress via the ERN1-XBP1 pathway of the unfolded protein response (UPR). Belongs to the derlin family. Sequence=AAD34096.1; Type=Frameshift; Evidence=; Hrd1p ubiquitin ligase ERAD-L complex suckling behavior protein binding early endosome late endosome endoplasmic reticulum endoplasmic reticulum membrane response to unfolded protein positive regulation of cell proliferation membrane integral component of membrane integral component of endoplasmic reticulum membrane positive regulation of cell growth ER-associated ubiquitin-dependent protein catabolic process endoplasmic reticulum unfolded protein response retrograde protein transport, ER to cytosol endoplasmic reticulum quality control compartment misfolded protein binding negative regulation of retrograde protein transport, ER to cytosol endoplasmic reticulum mannose trimming ubiquitin-specific protease binding signal recognition particle receptor complex signal recognition particle uc002gcc.1 uc002gcc.2 uc002gcc.3 
ENST00000159060.3 NOX3 ENST00000159060.3 Homo sapiens NADPH oxidase 3 (NOX3), mRNA. (from RefSeq NM_015718) ENST00000159060.1 ENST00000159060.2 MOX2 NM_015718 NOX3_HUMAN Q9HBJ9 Q9HBY0 uc003qqm.1 uc003qqm.2 uc003qqm.3 uc003qqm.4 uc003qqm.5 This gene encodes a member of the NOX family of NADPH oxidases. These enzymes have the capacity to generate superoxide and other reactive oxygen species (ROS) and transport electrons across the plasma membrane. The ROS generated by family members have been implicated in numerous biological functions including host defense, posttranlational processing of proteins, cellular signaling, regulation of gene expression, and cell differentiation. The protein encoded by this gene is expressed predominantly in the inner ear and is involved in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity.[provided by RefSeq, May 2009]. 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 :: AF190122.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2142680, SAMEA2144333 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000159060.3/ ENSP00000159060.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## NADPH oxidase that catalyzes the generation of superoxide from molecular oxygen utilizing NADPH as an electron donor, upon formation of a complex with CYBA/p22phox (PubMed:15181005, PubMed:15824103). Plays a role in the biogenesis of otoconia/otolith, which are crystalline structures of the inner ear involved in the perception of gravity (By similarity). Reaction=NADPH + 2 O2 = H(+) + NADP(+) + 2 superoxide; Xref=Rhea:RHEA:63180, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:18421, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; Evidence=; Name=heme; Xref=ChEBI:CHEBI:30413; Evidence=; Activated by the ototoxic drug cisplatin (By similarity). Activated by NOXO1. Cooperatively activated by NCF1 and NCF2 or NOXA1 in a phorbol 12-myristate 13-acetate (PMA)-dependent manner. Inhibited by diphenyleneiodonium chloride. Interacts with CYBA/p22phox (PubMed:15824103). Heterodimerization with CYBA/p22phox is essential for its activity and cell membrane localization (By similarity). Q9HBY0; Q9BQA9: CYBC1; NbExp=3; IntAct=EBI-13069010, EBI-2680384; Cell membrane ; Multi-pass membrane protein Expressed in fetal kidney and to a lower extent in liver, lung and spleen. N-glycosylated in a CYBA/p22phox-dependent manner. temperature homeostasis cytoplasm plasma membrane defense response detection of gravity response to gravity membrane integral component of membrane superoxide-generating NADPH oxidase activity oxidoreductase activity superoxide anion generation NADPH oxidase complex otolith development oxidation-reduction process extracellular exosome uc003qqm.1 uc003qqm.2 uc003qqm.3 uc003qqm.4 uc003qqm.5 
ENST00000159087.7 ANO8 ENST00000159087.7 Homo sapiens anoctamin 8 (ANO8), mRNA. (from RefSeq NM_020959) A6NIJ0 ANO8_HUMAN ENST00000159087.1 ENST00000159087.2 ENST00000159087.3 ENST00000159087.4 ENST00000159087.5 ENST00000159087.6 KIAA1623 NM_020959 Q9HCE9 TMEM16H uc002ngf.1 uc002ngf.2 uc002ngf.3 Does not exhibit calcium-activated chloride channel (CaCC) activity. Cell membrane ulti-pass membrane protein Note=Shows predominantly an intracellular localization with a weak expression in the cell membrane. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9HCE9-1; Sequence=Displayed; Name=2; IsoId=Q9HCE9-2; Sequence=VSP_020351, VSP_020352; Expressed in embryonic stem cells, fetal brain and neural tissues. The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology. Belongs to the anoctamin family. Sequence=BAB13449.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; intracellular calcium activated chloride channel activity endoplasmic reticulum lumen plasma membrane chloride transport membrane integral component of membrane ion transmembrane transport post-translational protein modification cellular protein metabolic process uc002ngf.1 uc002ngf.2 uc002ngf.3 
ENST00000159111.9 KDM4B ENST00000159111.9 Homo sapiens lysine demethylase 4B (KDM4B), transcript variant 1, mRNA. (from RefSeq NM_015015) A0A0C4DFL8 A0A0C4DFL8_HUMAN ENST00000159111.1 ENST00000159111.2 ENST00000159111.3 ENST00000159111.4 ENST00000159111.5 ENST00000159111.6 ENST00000159111.7 ENST00000159111.8 KDM4B NM_015015 uc002mbq.1 uc002mbq.2 uc002mbq.3 uc002mbq.4 uc002mbq.5 uc002mbq.6 Reaction=2 2-oxoglutarate + N(6),N(6),N(6)-trimethyl-L-lysyl(9)- [histone H3] + 2 O2 = 2 CO2 + 2 formaldehyde + N(6)-methyl-L- lysyl(9)-[histone H3] + 2 succinate; Xref=Rhea:RHEA:60200, Rhea:RHEA- COMP:15538, Rhea:RHEA-COMP:15542, ChEBI:CHEBI:15379, ChEBI:CHEBI:16526, ChEBI:CHEBI:16810, ChEBI:CHEBI:16842, ChEBI:CHEBI:30031, ChEBI:CHEBI:61929, ChEBI:CHEBI:61961; EC=1.14.11.66; Evidence=; Name=Fe(2+); Xref=ChEBI:CHEBI:29033; Evidence=; Nucleus Belongs to the JHDM3 histone demethylase family. nucleus cytosol nuclear pericentric heterochromatin histone demethylase activity histone demethylase activity (H3-K9 specific) histone H3-K9 demethylation metal ion binding histone H3-K36 demethylation negative regulation of histone H3-K9 trimethylation uc002mbq.1 uc002mbq.2 uc002mbq.3 uc002mbq.4 uc002mbq.5 uc002mbq.6 
ENST00000160262.10 ICAM3 ENST00000160262.10 Homo sapiens intercellular adhesion molecule 3 (ICAM3), transcript variant 1, mRNA. (from RefSeq NM_002162) ENST00000160262.1 ENST00000160262.2 ENST00000160262.3 ENST00000160262.4 ENST00000160262.5 ENST00000160262.6 ENST00000160262.7 ENST00000160262.8 ENST00000160262.9 ICAM3_HUMAN NM_002162 P32942 Q6PD68 uc002mob.1 uc002mob.2 uc002mob.3 uc002mob.4 The protein encoded by this gene is a member of the intercellular adhesion molecule (ICAM) family. All ICAM proteins are type I transmembrane glycoproteins, contain 2-9 immunoglobulin-like C2-type domains, and bind to the leukocyte adhesion LFA-1 protein. This protein is constitutively and abundantly expressed by all leucocytes and may be the most important ligand for LFA-1 in the initiation of the immune response. It functions not only as an adhesion molecule, but also as a potent signalling molecule. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]. ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2) (PubMed:1448173). ICAM3 is also a ligand for integrin alpha-D/beta-2. In association with integrin alpha- L/beta-2, contributes to apoptotic neutrophil phagocytosis by macrophages (PubMed:23775590). Interacts with moesin/MSN. P32942; Q6PL45-2: BRICD5; NbExp=3; IntAct=EBI-725421, EBI-12244618; P32942; Q8N6F1-2: CLDN19; NbExp=3; IntAct=EBI-725421, EBI-12256978; P32942; O14493: CLDN4; NbExp=3; IntAct=EBI-725421, EBI-9316372; P32942; P56851: EDDM3B; NbExp=3; IntAct=EBI-725421, EBI-10215665; P32942; Q9NZG7: NINJ2; NbExp=3; IntAct=EBI-725421, EBI-10317425; P32942; Q96IW7: SEC22A; NbExp=3; IntAct=EBI-725421, EBI-8652744; P32942; P11686: SFTPC; NbExp=3; IntAct=EBI-725421, EBI-10197617; P32942; Q9NRQ5: SMCO4; NbExp=3; IntAct=EBI-725421, EBI-8640191; P32942; B2RUZ4: SMIM1; NbExp=3; IntAct=EBI-725421, EBI-12188413; P32942; P30536: TSPO; NbExp=3; IntAct=EBI-725421, EBI-6623146; Membrane; Single-pass type I membrane protein. Leukocytes. Upon stimulation by a physiologic stimuli becomes rapidly and transiently phosphorylated on serine residues. N-glycosylated; glycans consist of a mixture of tri- and tetra- antennary complex-type chains and high-mannose chains. Belongs to the immunoglobulin superfamily. ICAM family. Name=Functional Glycomics Gateway - Glycan Binding; Note=ICAM-3; URL="http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Itlect_263"; stimulatory C-type lectin receptor signaling pathway receptor binding integrin binding protein binding plasma membrane integral component of plasma membrane phagocytosis cell adhesion membrane integral component of membrane extracellular matrix organization regulation of immune response extracellular exosome cell-cell adhesion uc002mob.1 uc002mob.2 uc002mob.3 uc002mob.4 
ENST00000160298.9 CAMSAP3 ENST00000160298.9 Homo sapiens calmodulin regulated spectrin associated protein family member 3 (CAMSAP3), transcript variant 2, mRNA. (from RefSeq NM_020902) CAMP3_HUMAN CAMSAP3 ENST00000160298.1 ENST00000160298.2 ENST00000160298.3 ENST00000160298.4 ENST00000160298.5 ENST00000160298.6 ENST00000160298.7 ENST00000160298.8 KIAA1543 NM_020902 Q8NDF1 Q9P1Y5 uc002mgv.1 uc002mgv.2 uc002mgv.3 uc002mgv.4 uc002mgv.5 uc002mgv.6 Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19041755, PubMed:23169647). Specifically recognizes growing microtubule minus-ends and autonomously decorates and stabilizes microtubule lattice formed by microtubule minus-end polymerization (PubMed:24486153). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153). In addition, it also reduces the velocity of microtubule polymerization (PubMed:24486153). Required for the biogenesis and the maintenance of zonula adherens by anchoring the minus-end of microtubules to zonula adherens and by recruiting the kinesin KIFC3 to those junctional sites (PubMed:19041755). Required for orienting the apical-to-basal polarity of microtubules in epithelial cells: acts by tethering non-centrosomal microtubules to the apical cortex, leading to their longitudinal orientation (PubMed:27802168, PubMed:26715742). Plays a key role in early embryos, which lack centrosomes: accumulates at the microtubule bridges that connect pairs of cells and enables the formation of a non-centrosomal microtubule- organizing center that directs intracellular transport in the early embryo (By similarity). Couples non-centrosomal microtubules with actin: interaction with MACF1 at the minus ends of non-centrosomal microtubules, tethers the microtubules to actin filaments, regulating focal adhesion size and cell migration (PubMed:27693509). Plays a key role in the generation of non-centrosomal microtubules by accumulating in the pericentrosomal region and cooperating with KATNA1 to release non-centrosomal microtubules from the centrosome (PubMed:28386021). Through the microtubule cytoskeleton, also regulates the organization of cellular organelles including the Golgi and the early endosomes (PubMed:28089391). Through interaction with AKAP9, involved in translocation of Golgi vesicles in epithelial cells, where microtubules are mainly non-centrosomal (PubMed:28089391). Plays an important role in motile cilia function by facilitatating proper orientation of basal bodies and formation of central microtubule pairs in motile cilia (By similarity). Interacts with PLEKHA7 (PubMed:19041755). Interacts with CAMSAP2 (By similarity). Interacts with KATNA1 and KATNB1; leading to regulate the length of CAMSAP3-decorated microtubule stretches (PubMed:24486153, PubMed:28386021). Interacts with AKAP9; regulating Golgi assembly in epithelial cells (PubMed:28089391). Interacts with MACF1 (PubMed:27693509, PubMed:27802168). Interacts with AKNA (By similarity). Q9P1Y5-2; O43143: DHX15; NbExp=3; IntAct=EBI-18121830, EBI-1237044; Q9P1Y5-2; A1L4K1: FSD2; NbExp=3; IntAct=EBI-18121830, EBI-5661036; Q9P1Y5-2; O75031: HSF2BP; NbExp=3; IntAct=EBI-18121830, EBI-7116203; Cytoplasm, cytoskeleton ll junction, adherens junction Cytoplasm Cytoplasm, cytoskeleton, cilium axoneme Cytoplasm, cytoskeleton, cilium basal body Note=Scattered in the cytoplasm, associated with the minus-end of microtubules and also detected at the centrosomes (PubMed:19041755, PubMed:24486153, PubMed:27693509). Decorates the minus-end of microtubules by decreasing the rate of tubulin incorporation and remaining bound (PubMed:24486153). Localizes along zonula adherens only at mature cell-cell contacts (PubMed:19041755). In early embryos, accumulates at the microtubule bridges that connect pairs of cells: this structure is present in early embryos, which lack centrosomes (By similarity). This cytokinetic bridge does not undergo stereotypical abscission after cell division (By similarity). Accumulates to the pericentrosomal region following interaction with KATNA1 (PubMed:28386021). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9P1Y5-1; Sequence=Displayed; Name=2; IsoId=Q9P1Y5-2; Sequence=VSP_041473; The CKK domain binds microtubules and specifically recognizes the minus-end of microtubules. 'Nezha' is a deity in Chinese mythology. Belongs to the CAMSAP1 family. microtubule cytoskeleton organization in utero embryonic development protein binding calmodulin binding cytoplasm cytoskeleton microtubule adherens junction zonula adherens negative regulation of microtubule depolymerization microtubule binding embryo development ending in birth or egg hatching negative regulation of phosphatase activity cell junction regulation of cell migration spectrin binding establishment or maintenance of microtubule cytoskeleton polarity regulation of microtubule polymerization cytoplasmic microtubule organization neuron projection development regulation of organelle organization microtubule anchoring microtubule minus-end establishment of epithelial cell apical/basal polarity zonula adherens maintenance microtubule minus-end binding actin filament binding regulation of focal adhesion assembly regulation of microtubule cytoskeleton organization epithelial cell-cell adhesion protein transport along microtubule regulation of Golgi organization centrosome uc002mgv.1 uc002mgv.2 uc002mgv.3 uc002mgv.4 uc002mgv.5 uc002mgv.6 
ENST00000160373.8 CTTNBP2 ENST00000160373.8 Homo sapiens cortactin binding protein 2 (CTTNBP2), transcript variant 1, mRNA. (from RefSeq NM_033427) C7orf8 CORTBP2 CTTB2_HUMAN ENST00000160373.1 ENST00000160373.2 ENST00000160373.3 ENST00000160373.4 ENST00000160373.5 ENST00000160373.6 ENST00000160373.7 KIAA1758 NM_033427 O43389 Q7LG11 Q8WZ74 Q9C0A5 uc003vjf.1 uc003vjf.2 uc003vjf.3 uc003vjf.4 uc003vjf.5 This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AF377960.1, BC106000.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000160373.8/ ENSP00000160373.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Regulates the dendritic spine distribution of CTTN/cortactin in hippocampal neurons, thus controls dendritic spinogenesis and dendritic spine maintenance. Interacts with CTTN/cortactin SH3 domain. Interacts with STRN, STRN4/zinedin and MOB4/phocein; this interaction may regulate dendritic spine distribution of STRN and STRN4 in hippocampal neurons. Activation of glutamate receptors weakens the interaction with STRN and STRN4. Q8WZ74; Q8WYA1-3: BMAL2; NbExp=3; IntAct=EBI-1774260, EBI-12268276; Q8WZ74; Q9NVL1-2: FAM86C1P; NbExp=3; IntAct=EBI-1774260, EBI-12845222; Q8WZ74; O75031: HSF2BP; NbExp=3; IntAct=EBI-1774260, EBI-7116203; Q8WZ74; Q0VD86: INCA1; NbExp=3; IntAct=EBI-1774260, EBI-6509505; Q8WZ74; P02533: KRT14; NbExp=3; IntAct=EBI-1774260, EBI-702178; Q8WZ74; P43364: MAGEA11; NbExp=3; IntAct=EBI-1774260, EBI-739552; Q8WZ74; A8MW99: MEI4; NbExp=3; IntAct=EBI-1774260, EBI-19944212; Q8WZ74; Q96KN3: PKNOX2; NbExp=3; IntAct=EBI-1774260, EBI-2692890; Cytoplasm, cell cortex Cell projection, dendritic spine Note=Remains associated with dendritic spines even after glutamate stimulation. Highest expression in brain. Also expressed in kidney, pancreas, lung, heart, liver, skeletal muscle and placenta. cytoplasm cell cortex brain development synaptic vesicle SH3 domain binding cell projection dendritic spine regulation of synapse organization postsynaptic actin cytoskeleton glutamatergic synapse regulation of modification of postsynaptic actin cytoskeleton uc003vjf.1 uc003vjf.2 uc003vjf.3 uc003vjf.4 uc003vjf.5 
ENST00000160382.10 ACTL6B ENST00000160382.10 Homo sapiens actin like 6B (ACTL6B), transcript variant 2, non-coding RNA. (from RefSeq NR_134539) A4D2D0 ACL6B_HUMAN ACTL6 ACTL6B BAF53B ENST00000160382.1 ENST00000160382.2 ENST00000160382.3 ENST00000160382.4 ENST00000160382.5 ENST00000160382.6 ENST00000160382.7 ENST00000160382.8 ENST00000160382.9 NR_134539 O75421 O94805 uc003uvy.1 uc003uvy.2 uc003uvy.3 uc003uvy.4 uc003uvy.5 The protein encoded by this gene is a member of a family of actin-related proteins (ARPs) which share significant amino acid sequence identity to conventional actins. Both actins and ARPs have an actin fold, which is an ATP-binding cleft, as a common feature. The ARPs are involved in diverse cellular processes, including vesicular transport, spindle orientation, nuclear migration and chromatin remodeling. This gene encodes a subunit of the BAF (BRG1/brm-associated factor) complex in mammals, which is functionally related to SWI/SNF complex in S. cerevisiae and Drosophila; the latter is thought to facilitate transcriptional activation of specific genes by antagonizing chromatin-mediated transcriptional repression. This subunit may be involved in the regulation of genes by structural modulation of their chromatin, specifically in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]. 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. Belongs to the neuron-specific chromatin remodeling complex (nBAF complex), as such plays a role in remodeling mononucleosomes in an ATP-dependent fashion, and is required for postmitotic neural development and dendritic outgrowth. 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. ACTL6B/BAF53B is not essential for assembly of the nBAF complex but is required for targeting the complex and CREST to the promoter of genes essential for dendritic growth (By similarity). Essential for neuronal maturation and dendrite development (PubMed:31031012). 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 (PubMed:22952240, PubMed:26601204). 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 (PubMed:22952240, PubMed:26601204). Component of neuron- specific chromatin remodeling complex (nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A or SMARCD2/BAF60B or SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170, DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (ACTB). Note that the nBAF complex is polymorphic in regard to the ATPase, SMARCA2 and SMARCA4 occupying mutually exclusive positions. May be a 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:22952240, PubMed:26601204). Nucleus Developmental and epileptic encephalopathy 76 (DEE76) [MIM:618468]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE76 is an autosomal recessive form that may result in death in childhood. te=The disease is caused by variants affecting the gene represented in this entry. Intellectual developmental disorder with severe speech and ambulation defects (IDDSSAD) [MIM:618470]: An autosomal dominant neurodevelopmental disorder with onset in infancy, and characterized by global developmental delay, intellectual disability, ambulation deficits, severe language impairment, and minor dysmorphic features including a wide mouth, diastema, and bulbous nose. Additional manifestations are spasticity, hypotonia and autistic features including stereotypies. Brain imaging show thin corpus callosum, generalized atrophy, and mild periventricular gliosis. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the actin family. Sequence=AAC78795.1; Type=Erroneous gene model prediction; Evidence=; chromatin binding transcription coactivator activity structural constituent of cytoskeleton nucleus nucleolus chromatin organization chromatin remodeling regulation of transcription from RNA polymerase II promoter cytoskeleton organization nervous system development SWI/SNF complex spinal cord development NuA4 histone acetyltransferase complex ATP-dependent chromatin remodeling histone H4 acetylation nBAF complex positive regulation of nucleic acid-templated transcription uc003uvy.1 uc003uvy.2 uc003uvy.3 uc003uvy.4 uc003uvy.5 
ENST00000160827.9 KIF22 ENST00000160827.9 Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA. (from RefSeq NM_007317) B2R5M0 B7Z265 ENST00000160827.1 ENST00000160827.2 ENST00000160827.3 ENST00000160827.4 ENST00000160827.5 ENST00000160827.6 ENST00000160827.7 ENST00000160827.8 KID KIF22_HUMAN KNSL4 NM_007317 O60845 O94814 Q14807 Q53F58 Q9BT46 uc002dts.1 uc002dts.2 uc002dts.3 uc002dts.4 uc002dts.5 uc002dts.6 The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]. Kinesin family member that is involved in spindle formation and the movements of chromosomes during mitosis and meiosis. Binds to microtubules and to DNA (By similarity). Plays a role in congression of laterally attached chromosomes in NDC80-depleted cells (PubMed:25743205). Interacts with FAM83D (PubMed:18485706). Interacts with SIAH1 (PubMed:11146551). Nucleus Cytoplasm, cytoskeleton Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14807-1; Sequence=Displayed; Name=2; IsoId=Q14807-2; Sequence=VSP_046428; Expressed in bone, cartilage, joint capsule, ligament, skin, and primary cultured chondrocytes. Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation. Spondyloepimetaphyseal dysplasia with joint laxity, 2 (SEMDJL2) [MIM:603546]: A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Kinesin family. Sequence=AAC08709.1; Type=Erroneous gene model prediction; Evidence=; Sequence=EAW80007.1; Type=Erroneous gene model prediction; Evidence=; nucleotide binding mitotic cell cycle kinetochore chromatin DNA binding microtubule motor activity protein binding ATP binding nucleus cytoplasm spindle cytosol cytoskeleton kinesin complex microtubule DNA repair retrograde vesicle-mediated transport, Golgi to ER microtubule-based movement sister chromatid cohesion mitotic metaphase plate congression microtubule binding nuclear speck ATPase activity antigen processing and presentation of exogenous peptide antigen via MHC class II metaphase plate congression mitotic spindle uc002dts.1 uc002dts.2 uc002dts.3 uc002dts.4 uc002dts.5 uc002dts.6 
ENST00000161006.8 PRSS22 ENST00000161006.8 Homo sapiens serine protease 22 (PRSS22), mRNA. (from RefSeq NM_022119) BSSP4 BSSP4_HUMAN ENST00000161006.1 ENST00000161006.2 ENST00000161006.3 ENST00000161006.4 ENST00000161006.5 ENST00000161006.6 ENST00000161006.7 NM_022119 O43342 PRSS26 Q6UXE0 Q9GZN4 SP001LA UNQ302/PRO343 uc002cry.1 uc002cry.2 This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: AY358396.1, ERR279835.322.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000161006.8/ ENSP00000161006.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Preferentially cleaves the synthetic substrate H-D-Leu-Thr- Arg-pNA compared to tosyl-Gly-Pro-Arg-pNA. Secreted Expressed abundantly in the epithelial cells of the airways, including trachea, esophagus and fetal lung. Scarce in adult lung. Expressed at low levels in placenta, pancreas, prostate and thyroid gland. Belongs to the peptidase S1 family. Sequence=AAB93671.1; Type=Erroneous gene model prediction; Evidence=; Sequence=AAQ88762.1; Type=Erroneous initiation; Evidence=; serine-type endopeptidase activity extracellular region proteolysis peptidase activity serine-type peptidase activity hydrolase activity uc002cry.1 uc002cry.2 
ENST00000161559.11 CEACAM1 ENST00000161559.11 Homo sapiens CEA cell adhesion molecule 1 (CEACAM1), transcript variant 1, mRNA. (from RefSeq NM_001712) A6NE38 A8MY49 BGP BGP1 CEACAM1 CEAM1_HUMAN ENST00000161559.1 ENST00000161559.10 ENST00000161559.2 ENST00000161559.3 ENST00000161559.4 ENST00000161559.5 ENST00000161559.6 ENST00000161559.7 ENST00000161559.8 ENST00000161559.9 NM_001712 O60430 P13688 Q069I7 Q13854 Q13857 Q13858 Q13859 Q13860 Q15600 Q15601 Q16170 Q5UB49 Q7KYP5 Q96CA7 Q9UQV9 uc002otv.1 uc002otv.2 uc002otv.3 uc002otv.4 This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined. [provided by RefSeq, May 2010]. [Isoform 1]: Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Plays a role as coinhibitory receptor in immune response, insulin action and functions also as an activator during angiogenesis (PubMed:18424730, PubMed:23696226, PubMed:25363763). Its coinhibitory receptor function is phosphorylation- and PTPN6 -dependent, which in turn, suppress signal transduction of associated receptors by dephosphorylation of their downstream effectors. Plays a role in immune response, of T cells, natural killer (NK) and neutrophils (PubMed:18424730, PubMed:23696226). Upon TCR/CD3 complex stimulation, inhibits TCR- mediated cytotoxicity by blocking granule exocytosis by mediating homophilic binding to adjacent cells, allowing interaction with and phosphorylation by LCK and interaction with the TCR/CD3 complex which recruits PTPN6 resulting in dephosphorylation of CD247 and ZAP70 (PubMed:18424730). Also inhibits T cell proliferation and cytokine production through inhibition of JNK cascade and plays a crucial role in regulating autoimmunity and anti-tumor immunity by inhibiting T cell through its interaction with HAVCR2 (PubMed:25363763). Upon natural killer (NK) cells activation, inhibit KLRK1-mediated cytolysis of CEACAM1-bearing tumor cells by trans-homophilic interactions with CEACAM1 on the target cell and lead to cis-interaction between CEACAM1 and KLRK1, allowing PTPN6 recruitment and then VAV1 dephosphorylation (PubMed:23696226). Upon neutrophils activation negatively regulates IL1B production by recruiting PTPN6 to a SYK-TLR4-CEACAM1 complex, that dephosphorylates SYK, reducing the production of reactive oxygen species (ROS) and lysosome disruption, which in turn, reduces the activity of the inflammasome. Down-regulates neutrophil production by acting as a coinhibitory receptor for CSF3R by down-regulating the CSF3R-STAT3 pathway through recruitment of PTPN6 that dephosphorylates CSF3R (By similarity). Also regulates insulin action by promoting INS clearance and regulating lipogenesis in liver through regulating insulin signaling (By similarity). Upon INS stimulation, undergoes phosphorylation by INSR leading to INS clearance by increasing receptor-mediated insulin endocytosis. This inernalization promotes interaction with FASN leading to receptor-mediated insulin degradation and to reduction of FASN activity leading to negative regulation of fatty acid synthesis. INSR-mediated phosphorylation also provokes a down-regulation of cell proliferation through SHC1 interaction resulting in decrease coupling of SHC1 to the MAPK3/ERK1-MAPK1/ERK2 and phosphatidylinositol 3-kinase pathways (By similarity). Functions as activator in angiogenesis by promoting blood vessel remodeling through endothelial cell differentiation and migration and in arteriogenesis by increasing the number of collateral arteries and collateral vessel calibers after ischemia. Also regulates vascular permeability through the VEGFR2 signaling pathway resulting in control of nitric oxide production (By similarity). Down-regulates cell growth in response to EGF through its interaction with SHC1 that mediates interaction with EGFR resulting in decrease coupling of SHC1 to the MAPK3/ERK1- MAPK1/ERK2 pathway (By similarity). Negatively regulates platelet aggregation by decreasing platelet adhesion on type I collagen through the GPVI-FcRgamma complex (By similarity). Inhibits cell migration and cell scattering through interaction with FLNA; interferes with the interaction of FLNA with RALA (PubMed:16291724). Mediates bile acid transport activity in a phosphorylation dependent manner (By similarity). Negatively regulates osteoclastogenesis (By similarity). [Isoform 8]: Cell adhesion protein that mediates homophilic cell adhesion in a calcium-independent manner (By similarity). Promotes populations of T cells regulating IgA production and secretion associated with control of the commensal microbiota and resistance to enteropathogens (By similarity). Monomer. Oligomer. Heterodimer. Homodimer (PubMed:26483485). Cis-dimer/oligomer (via Ig-like C2-type and/or via cytoplasmic domains); induced by trans-homophilic cell adhesion through an allosteric mechanism transmitted by the Ig-like V-type domain, and is regulated by intracellular calcium and calmodulin. Interacts (via cytoplasmic domain) with calmodulin in a calcium dependent manner; reduces homophilic cell adhesion through dissociation of dimer (By similarity). Isoform 1 interacts (via cytoplasmic domain) with PTPN11 (preferentially) and PTPN6; cis-homodimer form is preferred; this interaction is decreased by formation of Isoform 1 /Isoform 8 cis- heterodimers and is dependent on the monomer/dimer equilibrium; this interaction is phosphorylation-dependent (PubMed:23696226). Isoform 1 interacts with LYN (By similarity). Isoform 1 interacts (via cytoplasmic domain) with SRC (via SH2 domain); this interaction is regulated by trans-homophilic cell adhesion (PubMed:7478590). Isoform 1 interacts (via cytoplasmic domain) with LCK; mediates phosphorylation at Tyr-493 and Tyr-520 resulting in PTPN6 association. Isoform 1 interacts with PTPN6; this interaction is phosphorylation-dependent and causes a profound decrease in TCR stimulation-induced CD247 and ZAP70 phosphorylation. Isoform 1 interacts with TCR/CD3 complex through TCR beta chain and CD3E; colocalizes at the cell surface and upon stimulation of the TCR/CD3 complex recruits PTPN6 in the TCR/CD3 complex, resulting in dephosphorylation of CD247 and ZAP70 (PubMed:18424730). Isoform 1 interacts (via cytoplasmic domain) with SHC1 (via SH2 domain); SHC1 mediates interaction with INSR or EGFR in a Ser-508 phosphorylation-dependent manner (By similarity). Isoform 1 interacts with EGFR; the interaction is indirect (PubMed:15467833). Isoform 1 interacts with CSF3R; down-regulates the CSF3R-STAT3 pathway through recruitment of PTPN6 that dephosphorylates CSF3R (By similarity). Isoform 1 (phosphorylated form) interacts with TLR4 and SYK; recruits PTPN6 that dephosphorylates SYK, reducing the production of reactive oxygen species (ROS) and lysosome disruption, leading to a reduction of the inflammasome activity (By similarity). Isoform 1 interacts with FLNA; inhibits cell migration and cell scattering by interfering with the interaction of FLNA with RALA (PubMed:16291724). Isoform 1 interacts (via cytoplasmic domain) with PXN; the interaction is phosphotyrosyl-dependent (PubMed:11035932). Isoform 1 interacts with KLRK1; recruits PTPN6 that dephosphorylates VAV1 (PubMed:23696226). Isoform 1 interacts with CEACAM8 (PubMed:11994468). Isoform 1 interacts with FASN; this interaction is insulin and phosphorylation-dependent; reduces fatty-acid synthase activity (By similarity). Interacts (via Ig-like V-type) with HAVCR2 (via Ig-like V-type); facilitates the maturation and cell surface expression of HAVCR2 thereby regulating T cell tolerance induction (PubMed:25363763). Isoform 8 interacts (via the cytoplasmic domain) with ANXA2; this interaction is regulated by phosphorylation and appears in the AIIt complex (PubMed:14522961). Interacts (via Lewis X moieties) with CD209 (via C-type lectin domain); this interaction is regulated by the glycosylation pattern of CEACAM1 on cell types and regulates contact between dendritic cells and neutrophils (PubMed:16246332). P13688; Q16568: CARTPT; NbExp=3; IntAct=EBI-4314481, EBI-4314526; P13688; P13688: CEACAM1; NbExp=3; IntAct=EBI-4314481, EBI-4314481; P13688; P40199: CEACAM6; NbExp=2; IntAct=EBI-4314481, EBI-4314501; P13688; Q8TDQ0: HAVCR2; NbExp=4; IntAct=EBI-4314481, EBI-11472922; P13688; Q04883: opaD; Xeno; NbExp=2; IntAct=EBI-4314481, EBI-26495131; P13688; Q04884: opaH; Xeno; NbExp=3; IntAct=EBI-4314481, EBI-26495102; P13688; Q8GH87: uspa1; Xeno; NbExp=12; IntAct=EBI-4314481, EBI-7936357; [Isoform 1]: Cell membrane ; Single-pass type I membrane protein Lateral cell membrane Apical cell membrane Basal cell membrane Cell junction Cell junction, adherens junction Note=Canalicular domain of hepatocyte plasma membranes. Found as a mixture of monomer, dimer and oligomer in the plasma membrane. Occurs predominantly as cis-dimers and/or small cis-oligomers in the cell junction regions. Found as dimer in the solution. Predominantly localized to the lateral cell membranes. [Isoform 2]: Secreted [Isoform 3]: Secreted [Isoform 4]: Secreted [Isoform 5]: Cell membrane; Single-pass type I membrane protein. [Isoform 6]: Cell membrane; Single-pass type I membrane protein. [Isoform 7]: Cell membrane; Single-pass type I membrane protein. [Isoform 8]: Cell membrane ; Single-pass type I membrane protein Cytoplasmic vesicle, secretory vesicle membrane Lateral cell membrane Apical cell membrane Basal cell membrane Cell junction Cell junction, adherens junction Note=Predominantly localized to the lateral cell membranes. Found as a mixture of monomer, dimer and oligomer in the plasma membrane. Occurs predominantly as cis-dimers and/or small cis-oligomers in the cell junction regions (By similarity). Co-localizes with ANXA2 in secretory vesicles and with S100A10/p11 at the plasma membrane (PubMed:14522961). Cell projection, microvillus membrane ; Single-pass type I membrane protein Apical cell membrane ; Single-pass type I membrane protein Note=Localized to the apical glycocalyx surface (PubMed:10436421). Colocalizes with CEACAM20 at the apical brush border of intestinal cells. Event=Alternative splicing; Named isoforms=11; Name=1; Synonyms=BGPa, CEACAM1-4L , TM1-CEA; IsoId=P13688-1; Sequence=Displayed; Name=2; Synonyms=BGPg, CEACAM1-4C1 ; IsoId=P13688-2; Sequence=VSP_002482, VSP_002483; Name=3; Synonyms=BGPh, CEACAM1-3 ; IsoId=P13688-3; Sequence=VSP_002478, VSP_002479; Name=4; Synonyms=BGPi, CEACAM1-3C2 ; IsoId=P13688-4; Sequence=VSP_002480, VSP_002481; Name=5; Synonyms=BGPy, CEACAM1-3AL ; IsoId=P13688-5; Sequence=VSP_009227; Name=6; Synonyms=BGPb, CEACAM1-3L , TM2-CEA; IsoId=P13688-6; Sequence=VSP_010938; Name=7; Synonyms=BGPx, CEACAM1-1L ; IsoId=P13688-7; Sequence=VSP_012222; Name=8; Synonyms=BGPc, CEACAM1-4S , TM3-CEA; IsoId=P13688-8; Sequence=VSP_040572, VSP_040574; Name=9; Synonyms=BGPz, CEACAM1-3AS; IsoId=P13688-9; Sequence=VSP_040571, VSP_040572, VSP_040574; Name=10; IsoId=P13688-10; Sequence=VSP_040573, VSP_040575; Name=11; Synonyms=BGPd, CEACAM1-3S; IsoId=P13688-11; Sequence=VSP_010938, VSP_040572, VSP_040574; Expressed in columnar epithelial cells of the colon (at protein level) (PubMed:10436421). The predominant forms expressed by T cells are those containing a long cytoplasmic domain (PubMed:18424730). Expressed in granulocytes and lymphocytes. Leukocytes only express isoforms 6 and isoform 1 (PubMed:11994468). Induced in primary T cells by activation with IL-2. Ig-like V-type domain mediates trans-homophilic cell adhesion through homodimerization and this active process is regulated by tyrosine kinase, PTPN11 and PTPN6. Ig-like C2-type and/or cytoplasmic domains mediate cis-dimer/oligomer. [Isoform 1]: Phosphorylated on serine and tyrosine (By similarity). Isoform 1 is phosphorylated on tyrosine by Src family kinases like SRC and LCK and by receptor like CSF3R, EGFR and INSR upon stimulation (PubMed:15467833, PubMed:18424730, PubMed:7478590). Phosphorylated at Ser-508; mediates activity. Phosphorylated at Tyr- 493; regulates activity (By similarity). Phosphorylated at Tyr-493 by EGFR and INSR upon stimulation; this phosphorylation is Ser-508- phosphorylation-dependent; mediates cellular internalization; increases interaction with downstream proteins like SHC1 and FASN (By similarity). Phosphorylated at Tyr-493 and Tyr-520 by LCK; mediates PTPN6 association and is regulated by homophilic ligation of CEACAM1 in the absence of T cell activation (PubMed:18424730). Phosphorylated at Tyr-520; mediates interaction with PTPN11 (By similarity). [Isoform 8]: Phosphorylated on serine and threonine. [Isoform 8]: Pseudophosphorylated double mutant Thr- 457->Asp and Ser-459->Asp. The single mutant Ser-459->Asp mutant highly binds with ANXA2. Belongs to the immunoglobulin superfamily. CEA family. Sequence=AAA57141.1; Type=Erroneous gene model prediction; Evidence=; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/ceacam1/"; Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/40044/CEACAM1"; angiogenesis regulation of cell growth blood vessel development negative regulation of T cell mediated cytotoxicity negative regulation of natural killer cell mediated cytotoxicity directed against tumor cell target molecular_function actin binding protein binding calmodulin binding extracellular region plasma membrane integral component of plasma membrane cell-cell junction adherens junction negative regulation of protein kinase activity cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules integrin-mediated signaling pathway basal plasma membrane cell surface regulation of endothelial cell migration regulation of phosphatidylinositol 3-kinase signaling bile acid transmembrane transporter activity bile acid and bile salt transport membrane integral component of membrane apical plasma membrane lateral plasma membrane cell migration kinase binding protein phosphatase binding cell junction regulation of cell migration transport vesicle membrane negative regulation of granulocyte differentiation filamin binding cytoplasmic vesicle microvillus membrane negative regulation of interleukin-1 production cellular response to insulin stimulus specific granule membrane common myeloid progenitor cell proliferation insulin receptor internalization granulocyte colony-stimulating factor signaling pathway regulation of epidermal growth factor receptor signaling pathway identical protein binding protein homodimerization activity cell projection negative regulation of vascular permeability neutrophil degranulation negative regulation of cytotoxic T cell degranulation wound healing, spreading of cells regulation of endothelial cell differentiation negative regulation of fatty acid biosynthetic process protein dimerization activity negative regulation of T cell receptor signaling pathway leukocyte migration negative regulation of lipid biosynthetic process regulation of blood vessel remodeling extracellular exosome regulation of ERK1 and ERK2 cascade tertiary granule membrane negative regulation of platelet aggregation cell-cell adhesion via plasma-membrane adhesion molecules insulin catabolic process regulation of homophilic cell adhesion regulation of sprouting angiogenesis protein tyrosine kinase binding negative regulation of hepatocyte proliferation positive regulation of vasculogenesis T cell receptor complex uc002otv.1 uc002otv.2 uc002otv.3 uc002otv.4 
ENST00000161863.9 YTHDC2 ENST00000161863.9 Homo sapiens YTH domain containing 2 (YTHDC2), transcript variant 1, mRNA. (from RefSeq NM_022828) B2RP66 ENST00000161863.1 ENST00000161863.2 ENST00000161863.3 ENST00000161863.4 ENST00000161863.5 ENST00000161863.6 ENST00000161863.7 ENST00000161863.8 NM_022828 Q9H6S0 YTDC2_HUMAN YTHDC2 uc003kqn.1 uc003kqn.2 uc003kqn.3 uc003kqn.4 uc003kqn.5 This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]. 3'-5' RNA helicase that plays a key role in the male and female germline by promoting transition from mitotic to meiotic divisions in stem cells (PubMed:26318451, PubMed:29033321, PubMed:29970596). Specifically recognizes and binds N6-methyladenosine (m6A)-containing RNAs, a modification present at internal sites of mRNAs and some non-coding RNAs that plays a role in the efficiency of RNA processing and stability (PubMed:26318451, PubMed:29033321). Essential for ensuring a successful progression of the meiotic program in the germline by regulating the level of m6A-containing RNAs (By similarity). Acts by binding and promoting degradation of m6A- containing mRNAs: the 3'-5' RNA helicase activity is required for this process and RNA degradation may be mediated by XRN1 exoribonuclease (PubMed:29033321). Required for both spermatogenesis and oogenesis (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=; Interacts with MEIOC; binds transcripts that regulate the mitotic cell cycle inhibiting progression into metaphase, thereby allowing meiotic prophase to proceed normally (By similarity). Interacts (via ANK repeats) with XRN1 (PubMed:29033321, PubMed:29970596). Interacts with ZCCHC4 (PubMed:31799605). Associates with the small ribosomal subunit (PubMed:29970596). Interacts with RBM46 (By similarity). Q9H6S0; Q15306: IRF4; NbExp=2; IntAct=EBI-1057466, EBI-751345; Q9H6S0; Q99J34: Irak1; Xeno; NbExp=2; IntAct=EBI-1057466, EBI-6117042; Q9H6S0; A2AG06: Meioc; Xeno; NbExp=2; IntAct=EBI-1057466, EBI-11664020; Cytoplasm Cytoplasm, perinuclear region Expressed in testis (PubMed:29087293). Not detected in spermatogonia next to the tubule wall but is strongly expressed in spermatocytes, suggesting that it is up-regulated in germ cells upon entry into meiosis (PubMed:29087293). The YTH domain mediates RNA-binding. It recognizes and binds N6-methyladenosine (m6A)-containing RNAs. Belongs to the DEAD box helicase family. DEAH subfamily. Sequence=BAB15183.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; nucleotide binding nucleic acid binding RNA binding RNA helicase activity helicase activity protein binding ATP binding nucleus cytoplasm endoplasmic reticulum spermatogenesis spermatid development RNA-dependent ATPase activity hydrolase activity cell differentiation 3'-5' RNA helicase activity response to tumor necrosis factor ribonucleoprotein granule positive regulation by host of viral genome replication oogenesis oocyte development meiotic cell cycle germline cell cycle switching, mitotic to meiotic cell cycle RNA polymerase binding response to interleukin-1 N6-methyladenosine-containing RNA binding uc003kqn.1 uc003kqn.2 uc003kqn.3 uc003kqn.4 uc003kqn.5 
ENST00000162044.14 TMEM161A ENST00000162044.14 Homo sapiens transmembrane protein 161A (TMEM161A), transcript variant 1, mRNA. (from RefSeq NM_017814) B3KUE0 ENST00000162044.1 ENST00000162044.10 ENST00000162044.11 ENST00000162044.12 ENST00000162044.13 ENST00000162044.2 ENST00000162044.3 ENST00000162044.4 ENST00000162044.5 ENST00000162044.6 ENST00000162044.7 ENST00000162044.8 ENST00000162044.9 G5E9M6 NM_017814 Q7L2Y1 Q9NX61 T161A_HUMAN UNQ582/PRO1152 uc002nlg.1 uc002nlg.2 uc002nlg.3 uc002nlg.4 uc002nlg.5 uc002nlg.6 May play a role in protection against oxidative stress. Overexpression leads to reduced levels of oxidant-induced DNA damage and apoptosis. Q9NX61; O15354: GPR37; NbExp=2; IntAct=EBI-6138599, EBI-15639515; Membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NX61-1; Sequence=Displayed; Name=2; IsoId=Q9NX61-2; Sequence=VSP_046042; Up-regulated in cells which display transient adaptation to mild oxidative stress by treatment with diethylmaleate, a glutathione- depleting agent. Also induced by retinoic acid. Belongs to the TMEM161 family. protein binding 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 uc002nlg.1 uc002nlg.2 uc002nlg.3 uc002nlg.4 uc002nlg.5 uc002nlg.6 
ENST00000162330.10 BCAR1 ENST00000162330.10 Homo sapiens BCAR1 scaffold protein, Cas family member (BCAR1), transcript variant 6, mRNA. (from RefSeq NM_014567) B3KWD7 B4DEV4 B4DGB5 B4DIW5 B7Z7X7 BCAR1_HUMAN CAS CASS1 CRKAS E9PCL5 E9PCV2 ENST00000162330.1 ENST00000162330.2 ENST00000162330.3 ENST00000162330.4 ENST00000162330.5 ENST00000162330.6 ENST00000162330.7 ENST00000162330.8 ENST00000162330.9 F5GXA2 F5GXV6 F5H7Z0 F8WA69 NM_014567 P56945 Q6QEF7 uc002fdv.1 uc002fdv.2 uc002fdv.3 uc002fdv.4 uc002fdv.5 The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded protein contains a Src-homology 3 (SH3) domain, a proline-rich domain, a substrate domain which contains 15 repeat of the YxxP consensus phosphorylation motif for Src family kinases, a serine-rich domain, and a bipartite Src-binding domain, which can bind both SH2 and SH3 domains. This adaptor protein functions in multiple cellular pathways, including in cell motility, apoptosis and cell cycle control. Dysregulation of this gene can have a wide range of effects, affecting different pathways, including cardiac development, vascular smooth muscle cells, liver and kidney function, endothelial migration, and cancer. [provided by RefSeq, Sep 2017]. Docking protein which plays a central coordinating role for tyrosine kinase-based signaling related to cell adhesion (PubMed:12832404, PubMed:12432078). Implicated in induction of cell migration and cell branching (PubMed:12432078, PubMed:12832404, PubMed:17038317). Involved in the BCAR3-mediated inhibition of TGFB signaling (By similarity). Forms complexes in vivo with PTK2/FAK1, adapter protein CRKL and LYN kinase (PubMed:9020138). Heterodimerizes with NEDD9 (PubMed:10502414). Component of a complex comprised of SH2D3C, BCAR1/CAS, and CRK (PubMed:12432078). Within the complex, interacts with SH2D3C (via C-terminus), and CRK (PubMed:12432078, PubMed:17174122). Part of a complex comprised of PTPRA, BCAR1, BCAR3 (via SH2 domain) and SRC; the formation of the complex is dependent on intergrin mediated-tyrosine phosphorylation of PTPRA (PubMed:22801373). Interacts with BCAR3 (via Ras-GEF domain); the interaction regulates adhesion-dependent serine phosphorylation (PubMed:22081014). Interacts with SMAD2 and SMAD3 (By similarity). Interacts with NPHP1 (By similarity). Interacts with PTK2B/PYK2 (PubMed:9020138, PubMed:19086031). Interacts (via C-terminus) with SH2D3C/CHAT isoform 2 (via C-terminus) (PubMed:17174122, PubMed:22081014). Interacts with activated CSPG4. Interacts with BMX, INPPL1/SHIP2 and PEAK1. Part of a collagen-stimulated complex involved in cell migration made of CDC42, CRK, TNK2 and BCAR1/p130cas. Interacts with TNK2 via SH3 domains. Interacts (when tyrosine-phosphorylated) with tensin TNS1; the interaction is increased by phosphorylation of TNS1 (PubMed:20798394). P56945; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-702093, EBI-11954519; P56945; O75815-1: BCAR3; NbExp=3; IntAct=EBI-702093, EBI-15953103; P56945; P53618: COPB1; NbExp=3; IntAct=EBI-702093, EBI-359063; P56945; P46108: CRK; NbExp=7; IntAct=EBI-702093, EBI-886; P56945; Q5T9C2-3: EEIG1; NbExp=3; IntAct=EBI-702093, EBI-11980989; P56945; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-702093, EBI-6658203; P56945; P06241: FYN; NbExp=4; IntAct=EBI-702093, EBI-515315; P56945; P06241-3: FYN; NbExp=3; IntAct=EBI-702093, EBI-10691738; P56945; Q9BZE0: GLIS2; NbExp=3; IntAct=EBI-702093, EBI-7251368; P56945; O15357: INPPL1; NbExp=2; IntAct=EBI-702093, EBI-1384248; P56945; P46940: IQGAP1; NbExp=4; IntAct=EBI-702093, EBI-297509; P56945; P50281: MMP14; NbExp=3; IntAct=EBI-702093, EBI-992788; P56945; O43639: NCK2; NbExp=3; IntAct=EBI-702093, EBI-713635; P56945; Q9H792: PEAK1; NbExp=3; IntAct=EBI-702093, EBI-2609701; P56945; Q96QH2: PRAM1; NbExp=3; IntAct=EBI-702093, EBI-2860740; P56945; Q05397: PTK2; NbExp=2; IntAct=EBI-702093, EBI-702142; P56945; P18031: PTPN1; NbExp=5; IntAct=EBI-702093, EBI-968788; P56945; Q05209: PTPN12; NbExp=5; IntAct=EBI-702093, EBI-2266035; P56945; Q8N5H7-2: SH2D3C; NbExp=8; IntAct=EBI-702093, EBI-15952996; P56945; P12931: SRC; NbExp=3; IntAct=EBI-702093, EBI-621482; P56945; Q9C0H9: SRCIN1; NbExp=3; IntAct=EBI-702093, EBI-1393949; P56945; Q07912: TNK2; NbExp=5; IntAct=EBI-702093, EBI-603457; P56945; Q68CZ2: TNS3; NbExp=8; IntAct=EBI-702093, EBI-1220488; P56945; O75604: USP2; NbExp=3; IntAct=EBI-702093, EBI-743272; P56945; P18206-2: VCL; NbExp=3; IntAct=EBI-702093, EBI-11027067; P56945; P07947: YES1; NbExp=3; IntAct=EBI-702093, EBI-515331; P56945; Q9QWI6: Srcin1; Xeno; NbExp=3; IntAct=EBI-702093, EBI-775592; P56945; Q04205: TNS1; Xeno; NbExp=2; IntAct=EBI-702093, EBI-2607590; Cell junction, focal adhesion Cytoplasm Cell projection, axon Note=Unphosphorylated form localizes in the cytoplasm (By similarity). Localizes to focal adhesion sites following integrin engagement (By similarity). Event=Alternative splicing; Named isoforms=8; Name=1; IsoId=P56945-1; Sequence=Displayed; Name=2; IsoId=P56945-2; Sequence=VSP_043559; Name=3; IsoId=P56945-3; Sequence=VSP_045355; Name=4; IsoId=P56945-4; Sequence=VSP_046127, VSP_046128; Name=5; IsoId=P56945-5; Sequence=VSP_046748; Name=6; IsoId=P56945-6; Sequence=VSP_046749; Name=7; IsoId=P56945-7; Sequence=VSP_046750; Name=8; IsoId=P56945-8; Sequence=VSP_046751; Expressed in B-cells (at protein level) (PubMed:9020138). Widely expressed with an abundant expression in the testis (PubMed:10639512). Low level of expression seen in the liver, thymus, and peripheral blood leukocytes (PubMed:10639512). 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 ABL1 SH2 domains. The HLH motif is absolutely required for the induction of pseudohyphal growth in yeast and mediates heterodimerization with NEDD9 (By similarity). A serine-rich region promotes activation of the serum response element (SRE). The SH3 domain is necessary for the localization of the protein to focal adhesions and interacts with one proline-rich region of PTK2/FAK11. PTK2/FAK1 activation mediates phosphorylation at the YDYVHL motif; phosphorylation is most likely catalyzed by SRC family members. SRC- family kinases are recruited to the phosphorylated sites and can phosphorylate other tyrosine residues. Tyrosine phosphorylation is triggered by integrin-mediated adhesion of cells to the extracellular matrix. Dephosphorylated by PTPN14 at Tyr-128. Phosphorylated by SRC kinase in a EDN1- and PTK2B-mediated manner; phosphorylation strengthens its interaction with BCAR3 as part of the PTK2B/BCAR1/BCAR3/RAP1 signaling pathway. Belongs to the CAS family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/761/BCAR1"; regulation of cell growth ruffle protein binding cytoplasm cytosol focal adhesion actin filament organization cell adhesion signal transduction epidermal growth factor receptor signaling pathway G-protein coupled receptor signaling pathway integrin-mediated signaling pathway insulin receptor signaling pathway positive regulation of endothelial cell migration actin cytoskeleton cell migration SH3 domain binding protein kinase binding lamellipodium cell junction positive regulation of cell migration cellular response to hepatocyte growth factor stimulus regulation of apoptotic process platelet-derived growth factor receptor signaling pathway vascular endothelial growth factor receptor signaling pathway neurotrophin TRK receptor signaling pathway hepatocyte growth factor receptor signaling pathway antigen receptor-mediated signaling pathway T cell receptor signaling pathway B cell receptor signaling pathway cell division cell chemotaxis actin filament reorganization plasma membrane uc002fdv.1 uc002fdv.2 uc002fdv.3 uc002fdv.4 uc002fdv.5 
ENST00000162391.8 FOXJ2 ENST00000162391.8 Homo sapiens forkhead box J2 (FOXJ2), mRNA. (from RefSeq NM_018416) A0AVK4 B2RMP3 ENST00000162391.1 ENST00000162391.2 ENST00000162391.3 ENST00000162391.4 ENST00000162391.5 ENST00000162391.6 ENST00000162391.7 FHX FOXJ2_HUMAN NM_018416 Q96PS9 Q9NSN5 Q9P0K8 uc001qtu.1 uc001qtu.2 uc001qtu.3 uc001qtu.4 uc001qtu.5 [Isoform FOXJ2.L]: Transcriptional activator. Able to bind to two different type of DNA binding sites. More effective than isoform FOXJ2.S in transcriptional activation (PubMed:10777590, PubMed:10966786). Plays an important role in spermatogenesis, especially in spermatocyte meiosis (By similarity). [Isoform FOXJ2.S]: Transcriptional activator. Q9P0K8; Q9H0L4: CSTF2T; NbExp=3; IntAct=EBI-2869608, EBI-747012; Q9P0K8; Q9H6Z9: EGLN3; NbExp=6; IntAct=EBI-2869608, EBI-1175354; Q9P0K8; Q9P0K8: FOXJ2; NbExp=2; IntAct=EBI-2869608, EBI-2869608; Nucleus. Event=Alternative splicing; Named isoforms=2; Name=FOXJ2.L; Synonyms=FHX.L; IsoId=Q9P0K8-1; Sequence=Displayed; Name=FOXJ2.S; Synonyms=FHX.S; IsoId=Q9P0K8-2; Sequence=VSP_001544; Widely expressed. 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 fibrillar center DNA binding transcription factor activity, sequence-specific DNA binding protein 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 uc001qtu.1 uc001qtu.2 uc001qtu.3 uc001qtu.4 uc001qtu.5 
ENST00000162749.7 TNFRSF1A ENST00000162749.7 Homo sapiens TNF receptor superfamily member 1A (TNFRSF1A), transcript variant 1, mRNA. (from RefSeq NM_001065) A8K4X3 B2RDE4 B3KPQ1 B4DQB7 B4E309 B5M0B5 D3DUR1 ENST00000162749.1 ENST00000162749.2 ENST00000162749.3 ENST00000162749.4 ENST00000162749.5 ENST00000162749.6 NM_001065 P19438 Q9UCA4 TNFAR TNFR1 TNR1A_HUMAN uc001qnu.1 uc001qnu.2 uc001qnu.3 uc001qnu.4 uc001qnu.5 This gene encodes a member of the TNF receptor superfamily of proteins. The encoded receptor is found in membrane-bound and soluble forms that interact with membrane-bound and soluble forms, respectively, of its ligand, tumor necrosis factor alpha. Binding of membrane-bound tumor necrosis factor alpha to the membrane-bound receptor induces receptor trimerization and activation, which plays a role in cell survival, apoptosis, and inflammation. Proteolytic processing of the encoded receptor results in release of the soluble form of the receptor, which can interact with free tumor necrosis factor alpha to inhibit inflammation. Mutations in this gene underlie tumor necrosis factor receptor-associated periodic syndrome (TRAPS), characterized by fever, abdominal pain and other features. Mutations in this gene may also be associated with multiple sclerosis in human patients. [provided by RefSeq, Sep 2016]. Receptor for TNFSF2/TNF-alpha and homotrimeric TNFSF1/lymphotoxin-alpha. 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. Contributes to the induction of non-cytocidal TNF effects including anti-viral state and activation of the acid sphingomyelinase. Binding of TNF to the extracellular domain leads to homotrimerization. The aggregated death domains provide a novel molecular interface that interacts specifically with the death domain of TRADD. Various TRADD-interacting proteins such as TRAFS, RIPK1 and possibly FADD, are recruited to the complex by their association with TRADD. This complex activates at least two distinct signaling cascades, apoptosis and NF-kappa-B signaling. Interacts with BAG4, BABAM2, FEM1B, GRB2, SQSTM1 and TRPC4AP (PubMed:10356400, PubMed:10359574, PubMed:10542291, PubMed:15465831, PubMed:8387891, PubMed:9915703). Interacts directly with NOL3 (via CARD domain); inhibits TNF-signaling pathway (By similarity). Interacts with SH3RF2, TRADD and RIPK1. SH3RF2 facilitates the recruitment of RIPK1 and TRADD to TNFRSF1A in a TNF- alpha-dependent process (PubMed:24130170). Interacts with PGLYRP1; this interaction is important for cell death induction (PubMed:26183779). Interacts (via death domain) with MADD (via death domain) (PubMed:9115275). (Microbial infection) Interacts with mumps virus protein SH; this interaction inhibits downstream NF-kappa-B pathway activation. (Microbial infection) Interacts with HCV core protein. (Microbial infection) Interacts with human cytomegalovirus/HHV-5 protein UL138. (Microbial infection) Interacts with host TNFRSF1A; this interaction leads to the stimulation of both surface expression and shedding of TNFRSF1A. P19438; P28799: GRN; NbExp=4; IntAct=EBI-299451, EBI-747754; P19438; Q969G6: RFK; NbExp=4; IntAct=EBI-299451, EBI-716872; P19438; Q13546: RIPK1; NbExp=6; IntAct=EBI-299451, EBI-358507; P19438; P01375: TNF; NbExp=15; IntAct=EBI-299451, EBI-359977; P19438; Q15628: TRADD; NbExp=13; IntAct=EBI-299451, EBI-359215; P19438-1; Q969G6: RFK; NbExp=2; IntAct=EBI-15795644, EBI-716872; Cell membrane ; Single-pass type I membrane protein Golgi apparatus membrane ; Single-pass type I membrane protein Secreted Note=A secreted form is produced through proteolytic processing. [Isoform 4]: Secreted. Note=Lacks a Golgi- retention motif, is not membrane bound and therefore is secreted. Event=Alternative splicing; Named isoforms=5; Name=1; Synonyms=FL-TNFR1; IsoId=P19438-1; Sequence=Displayed; Name=2; IsoId=P19438-2; Sequence=VSP_037153; Name=4; Synonyms=Delta6-TNFR1; IsoId=P19438-4; Sequence=VSP_044949; Name=3; IsoId=P19438-3; Sequence=VSP_037154; Name=5; IsoId=P19438-5; Sequence=VSP_047613, VSP_047614; The domain that induces A-SMASE is probably identical to the death domain. The N-SMASE activation domain (NSD) is both necessary and sufficient for activation of N-SMASE. Both the cytoplasmic membrane-proximal region and the C- terminal region containing the death domain are involved in the interaction with TRPC4AP. The soluble form is produced from the membrane form by proteolytic processing. (Microbial infection) Glycosylated at Arg-376 by enteropathogenic E.coli protein NleB1 and S.typhimurium protein Ssek3: arginine GlcNAcylation prevents homotypic/heterotypic death domain interactions. Periodic fever, familial, autosomal dominant (FPF) [MIM:142680]: A hereditary periodic fever syndrome characterized by recurrent fever, abdominal pain, localized tender skin lesions and myalgia. Reactive amyloidosis is the main complication and occurs in 25% of cases. te=The disease is caused by variants affecting the gene represented in this entry. Multiple sclerosis 5 (MS5) [MIM:614810]: A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. An intronic mutation affecting alternative splicing and skipping of exon 6 directs increased expression of isoform 4 a transcript encoding a C-terminally truncated protein which is secreted and may function as a TNF antagonist. [Isoform 4]: Disease-associated isoform. Isoform 4 splicing pattern is driven by a variation in the exon 6/intron 6 boundary region that alters exon 6 splicing. Exon 6 skipping introduces a frameshift and the translation of a protein lacking the intracellular, the transmembrane and part of the extracellular domain. Name=INFEVERS; Note=Repertory of FMF and hereditary autoinflammatory disorders mutations; URL="https://infevers.umai-montpellier.fr/web/search.php?n=22"; Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/tnfrsf1a/"; Golgi membrane tumor necrosis factor receptor superfamily complex aortic valve development pulmonary valve development negative regulation of extracellular matrix constituent secretion tumor necrosis factor-activated receptor activity protein binding extracellular region extracellular space mitochondrion Golgi apparatus plasma membrane integral component of plasma membrane prostaglandin metabolic process apoptotic process defense response inflammatory response signal transduction cell surface receptor signaling pathway I-kappaB kinase/NF-kappaB signaling extrinsic apoptotic signaling pathway via death domain receptors intrinsic apoptotic signaling pathway in response to DNA damage cell surface negative regulation of cardiac muscle hypertrophy regulation of tumor necrosis factor-mediated signaling pathway membrane integral component of membrane viral process cytokine-mediated signaling pathway tumor necrosis factor-mediated signaling pathway positive regulation of tyrosine phosphorylation of STAT protein defense response to bacterium identical protein binding tumor necrosis factor binding positive regulation of I-kappaB kinase/NF-kappaB signaling receptor complex membrane raft positive regulation of transcription from RNA polymerase II promoter negative regulation of inflammatory response positive regulation of inflammatory response cellular response to mechanical stimulus death-inducing signaling complex assembly protein localization to plasma membrane positive regulation of apoptotic process involved in morphogenesis regulation of establishment of endothelial barrier positive regulation of ceramide biosynthetic process uc001qnu.1 uc001qnu.2 uc001qnu.3 uc001qnu.4 uc001qnu.5 
ENST00000163416.7 GOLGA5 ENST00000163416.7 Homo sapiens golgin A5 (GOLGA5), mRNA. (from RefSeq NM_005113) C9JRU1 ENST00000163416.1 ENST00000163416.2 ENST00000163416.3 ENST00000163416.4 ENST00000163416.5 ENST00000163416.6 GOGA5_HUMAN NM_005113 O95287 PIG31 Q03962 Q2TS49 Q8TBA6 Q9UQQ7 RETII RFG5 uc001yaz.1 uc001yaz.2 uc001yaz.3 uc001yaz.4 The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. A pseudogene of this gene is located on the short arm of chromosome 5. [provided by RefSeq, Jul 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 :: SRR1803616.122087.1, SRR1803611.169184.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000163416.7/ ENSP00000163416.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Involved in maintaining Golgi structure. Stimulates the formation of Golgi stacks and ribbons. Involved in intra-Golgi retrograde transport. Homodimer. Interacts with RAB1A that has been activated by GTP-binding, and possibly also with OCRL1. Interacts with isoform CASP of CUX1. Golgi apparatus membrane ; Single-pass type IV membrane protein Note=Found throughout the Golgi, both on cisternae and, at higher abundance, on the tubulo-vesicular structures of the cis-Golgi network. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q8TBA6-1; Sequence=Displayed; Name=2; IsoId=Q8TBA6-2; Sequence=VSP_007731, VSP_007732; Ubiquitous. Highly expressed in seminiferous tubules and Leydig cells in testis, and detected at much lower levels in the other tissues tested. Expression is very low or not detectable in spermatozoa. Highly phosphorylated during mitosis. Phosphorylation is barely detectable during interphase. Note=A chromosomal aberration involving GOLGA5 is found in papillary thyroid carcinomas (PTCs). Translocation t(10;14)(q11;q32) with RET. The translocation generates the RET/GOLGA5 (PTC5) oncogene. Sequence=CAA33787.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. A chimeric cDNA originating from chromosomes 14 and 10.; Evidence=; Golgi membrane retrograde transport, vesicle recycling within Golgi Golgi apparatus cis-Golgi network Golgi organization membrane integral component of membrane Rab GTPase binding transport vesicle Golgi cisterna protein homodimerization activity Golgi vesicle transport uc001yaz.1 uc001yaz.2 uc001yaz.3 uc001yaz.4 
ENST00000164024.5 CELSR3 ENST00000164024.5 Homo sapiens cadherin EGF LAG seven-pass G-type receptor 3 (CELSR3), mRNA. (from RefSeq NM_001407) CDHF11 CELR3_HUMAN EGFL1 ENST00000164024.1 ENST00000164024.2 ENST00000164024.3 ENST00000164024.4 FMI1 KIAA0812 MEGF2 NM_001407 O75092 Q9NYQ7 uc003cul.1 uc003cul.2 uc003cul.3 uc003cul.4 uc003cul.5 This gene belongs to the flamingo subfamily, which is included in the cadherin superfamily. The flamingo cadherins consist of nonclassic-type cadherins that do not interact with catenins. They are plasma membrane proteins containing seven epidermal growth factor-like repeats, nine cadherin domains and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic feature of their subfamily. The encoded protein may be involved in the regulation of contact-dependent neurite growth and may play a role in tumor formation. [provided by RefSeq, Jun 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 :: AF231023.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000164024.5/ ENSP00000164024.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Receptor that may have an important role in cell/cell signaling during nervous system formation. Q9NYQ7; P16333: NCK1; NbExp=2; IntAct=EBI-308417, EBI-389883; Cell membrane; Multi-pass membrane protein. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NYQ7-1; Sequence=Displayed; Name=2; IsoId=Q9NYQ7-2; Sequence=VSP_037125; Belongs to the G-protein coupled receptor 2 family. LN-TM7 subfamily. neuron migration regulation of protein phosphorylation transmembrane signaling receptor activity G-protein coupled receptor activity calcium ion binding protein binding 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 multicellular organism development axonal fasciculation membrane integral component of membrane regulation of protein localization dopaminergic neuron axon guidance serotonergic neuron axon guidance Wnt signaling pathway, planar cell polarity pathway cilium assembly cell-cell adhesion planar cell polarity pathway involved in axon guidance uc003cul.1 uc003cul.2 uc003cul.3 uc003cul.4 uc003cul.5 
ENST00000164133.7 PPP2R5B ENST00000164133.7 Homo sapiens protein phosphatase 2 regulatory subunit B'beta (PPP2R5B), mRNA. (from RefSeq NM_006244) 2A5B_HUMAN ENST00000164133.1 ENST00000164133.2 ENST00000164133.3 ENST00000164133.4 ENST00000164133.5 ENST00000164133.6 NM_006244 Q13853 Q15173 uc001oby.1 uc001oby.2 uc001oby.3 uc001oby.4 uc001oby.5 The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B56 subfamily. [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 :: SRR3476690.888844.1, SRR3476690.697029.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000164133.7/ ENSP00000164133.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## As the regulatory component of the serine/threonine-protein phosphatase 2A (PP2A) holoenzyme, modulates substrate specificity, subcellular localization, and responsiveness to phosphorylation. The phosphorylated form mediates the interaction between PP2A and AKT1, leading to AKT1 dephosphorylation. Component of the serine/threonine-protein phosphatase 2A complex (PP2A). This complex consists of a common heterodimeric core enzyme, composed of a 36 kDa catalytic subunit (subunit C) and a 65 kDa constant scaffold 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 (PubMed:23135275). Interacts with SGO1 (PubMed:16541025). Interacts with AKT1 (PubMed:21329884). Interacts with CUL3 and KLHL15; this interaction leads to proteasomal degradation (PubMed:23135275). Q15173; O96017: CHEK2; NbExp=2; IntAct=EBI-1369497, EBI-1180783; Q15173; P46695: IER3; NbExp=4; IntAct=EBI-1369497, EBI-1748945; Q15173; P67775: PPP2CA; NbExp=6; IntAct=EBI-1369497, EBI-712311; Q15173; P30153: PPP2R1A; NbExp=4; IntAct=EBI-1369497, EBI-302388; Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=Beta-1; IsoId=Q15173-1; Sequence=Displayed; Name=Beta-2; IsoId=Q15173-2; Sequence=VSP_005109; Highest expression in brain. By retinoic acid; in neuroblastoma cell lines. Ubiquitinated by E3 CUL3-KLHL15 complex; this modification leads to proteasomal degradation. Belongs to the phosphatase 2A regulatory subunit B56 family. protein phosphatase type 2A complex regulation of protein phosphorylation protein binding nucleus cytoplasm cytosol protein dephosphorylation signal transduction regulation of receptor activity positive regulation of neuron projection development regulation of phosphatidylinositol 3-kinase signaling protein phosphatase regulator activity positive regulation of protein complex assembly regulation of protein autophosphorylation IRE1-mediated unfolded protein response regulation of phosphoprotein phosphatase activity positive regulation of transcription from RNA polymerase II promoter regulation of peptidyl-tyrosine phosphorylation positive regulation of sequence-specific DNA binding transcription factor activity positive regulation of neurotrophin TRK receptor signaling pathway negative regulation of protein kinase B signaling negative regulation of G0 to G1 transition positive regulation of cell cycle arrest cellular response to growth factor stimulus protein phosphatase activator activity uc001oby.1 uc001oby.2 uc001oby.3 uc001oby.4 uc001oby.5 
ENST00000164139.4 PYGM ENST00000164139.4 Homo sapiens glycogen phosphorylase, muscle associated (PYGM), transcript variant 1, mRNA. (from RefSeq NM_005609) A0AVK1 A6NDY6 ENST00000164139.1 ENST00000164139.2 ENST00000164139.3 NM_005609 P11217 PYGM PYGM_HUMAN uc001oax.1 uc001oax.2 uc001oax.3 uc001oax.4 uc001oax.5 uc001oax.6 This gene encodes a muscle enzyme involved in glycogenolysis. Highly similar enzymes encoded by different genes are found in liver and brain. Mutations in this gene are associated with McArdle disease (myophosphorylase deficiency), a glycogen storage disease of muscle. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]. Allosteric enzyme that catalyzes the rate-limiting step in glycogen catabolism, the phosphorolytic cleavage of glycogen to produce glucose-1-phosphate, and plays a central role in maintaining cellular and organismal glucose homeostasis. Reaction=[(1->4)-alpha-D-glucosyl](n) + phosphate = [(1->4)-alpha-D- glucosyl](n-1) + alpha-D-glucose 1-phosphate; Xref=Rhea:RHEA:41732, Rhea:RHEA-COMP:9584, Rhea:RHEA-COMP:9586, ChEBI:CHEBI:15444, ChEBI:CHEBI:43474, ChEBI:CHEBI:58601; EC=2.4.1.1; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41733; Evidence=; Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326; Evidence=; Allosterically regulated through the non-covalent binding of metabolites, being activated by AMP and inhibited by ATP, ADP, and glucose-6-phosphate. The activity is also controlled by post- translational modifications including phosphorylation. Homodimer (PubMed:1150650, PubMed:16523484). Homotetramer; to form the enzymatically active phosphorylase A (PubMed:1150650). P11217; Q96HA8: NTAQ1; NbExp=4; IntAct=EBI-357469, EBI-741158; P11217; O43741: PRKAB2; NbExp=7; IntAct=EBI-357469, EBI-1053424; P11217; P11216: PYGB; NbExp=3; IntAct=EBI-357469, EBI-1047231; P11217; P06737: PYGL; NbExp=3; IntAct=EBI-357469, EBI-2511865; P11217; PRO_0000449633 [P0DTD1]: rep; Xeno; NbExp=3; IntAct=EBI-357469, EBI-25492395; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11217-1; Sequence=Displayed; Name=2; IsoId=P11217-2; Sequence=VSP_043047; Phosphorylation of Ser-15 converts phosphorylase B (unphosphorylated) to phosphorylase A. Glycogen storage disease 5 (GSD5) [MIM:232600]: A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. te=The disease is caused by variants affecting the gene represented in this entry. Belongs to the glycogen phosphorylase family. nucleotide binding catalytic activity phosphorylase activity protein binding cytoplasm cytosol carbohydrate metabolic process glycogen metabolic process glycogen catabolic process metabolic process glycogen phosphorylase activity transferase activity transferase activity, transferring glycosyl groups pyridoxal phosphate binding extracellular exosome uc001oax.1 uc001oax.2 uc001oax.3 uc001oax.4 uc001oax.5 uc001oax.6 
ENST00000164227.10 BCL3 ENST00000164227.10 Homo sapiens BCL3 transcription coactivator (BCL3), mRNA. (from RefSeq NM_005178) BCL3_HUMAN BCL4 D19S37 ENST00000164227.1 ENST00000164227.2 ENST00000164227.3 ENST00000164227.4 ENST00000164227.5 ENST00000164227.6 ENST00000164227.7 ENST00000164227.8 ENST00000164227.9 NM_005178 P20749 uc010xxe.1 uc010xxe.2 uc010xxe.3 uc010xxe.4 This gene is a proto-oncogene candidate. It is identified by its translocation into the immunoglobulin alpha-locus in some cases of B-cell leukemia. The protein encoded by this gene contains seven ankyrin repeats, which are most closely related to those found in I kappa B proteins. This protein functions as a transcriptional co-activator that activates through its association with NF-kappa B homodimers. The expression of this gene can be induced by NF-kappa B, which forms a part of the autoregulatory loop that controls the nuclear residence of p50 NF-kappa B. [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 :: BC064993.1, SRR1163658.355456.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000164227.10/ ENSP00000164227.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Contributes to the regulation of transcriptional activation of NF-kappa-B target genes. In the cytoplasm, inhibits the nuclear translocation of the NF-kappa-B p50 subunit. In the nucleus, acts as transcriptional activator that promotes transcription of NF-kappa-B target genes. Contributes to the regulation of cell proliferation (By similarity). Component of a complex consisting of the NF-kappa-B p52-p52 homodimer and BCL3. Component of a complex consisting of the NF-kappa-B p50-p50 homodimer and BCL3. Interacts with N4BP2, COPS5 and PIR. Interacts with CYLD (By similarity). P20749; O95999: BCL10; NbExp=3; IntAct=EBI-958997, EBI-958922; P20749; P56545: CTBP2; NbExp=2; IntAct=EBI-958997, EBI-741533; P20749; P06239: LCK; NbExp=3; IntAct=EBI-958997, EBI-1348; P20749; Q9BVL2: NUP58; NbExp=3; IntAct=EBI-958997, EBI-2811583; Nucleus. Cytoplasm Cytoplasm, perinuclear region Note=Ubiquitination via 'Lys-63'- linked ubiquitin chains is required for nuclear accumulation. Polyubiquitinated. Ubiquitination via 'Lys-63'-linked ubiquitin chains is required for nuclear accumulation. Deubiquitinated by CYLD, which acts on 'Lys-63'-linked ubiquitin chains. Deubiquitination by CYLD prevents nuclear accumulation (By similarity). Activated by phosphorylation. Note=A chromosomal aberration involving BCL3 may be a cause of B-cell chronic lymphocytic leukemia (B-CLL). Translocation t(14;19)(q32;q13.1) with immunoglobulin gene regions. It is uncertain whether Met-1 or Met-9 is the initiator. Sequence=AAA51815.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=AAA51816.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=AAH64993.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; follicular dendritic cell differentiation marginal zone B cell differentiation humoral immune response mediated by circulating immunoglobulin germinal center formation DNA binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm cytosol plasma membrane transcription, DNA-templated cellular response to DNA damage stimulus I-kappaB kinase/NF-kappaB signaling transcription factor binding response to virus response to UV-C antimicrobial humoral response extracellular matrix organization DNA damage response, signal transduction by p53 class mediator midbody protein binding, bridging positive regulation of interferon-gamma production macromolecular complex Bcl3-Bcl10 complex Bcl3/NF-kappaB2 complex T-helper 1 type immune response negative regulation of tumor necrosis factor biosynthetic process defense response to bacterium intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator defense response to protozoan regulation of apoptotic process negative regulation of apoptotic process intracellular membrane-bounded organelle T-helper 2 cell differentiation positive regulation of interleukin-10 biosynthetic process negative regulation of interleukin-8 biosynthetic process positive regulation of translation negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter negative regulation of JAK-STAT cascade perinuclear region of cytoplasm spleen development regulation of DNA binding maintenance of protein location in nucleus regulation of NIK/NF-kappaB signaling uc010xxe.1 uc010xxe.2 uc010xxe.3 uc010xxe.4 
ENST00000164305.10 PIGB ENST00000164305.10 Homo sapiens phosphatidylinositol glycan anchor biosynthesis class B (PIGB), mRNA. (from RefSeq NM_004855) ENST00000164305.1 ENST00000164305.2 ENST00000164305.3 ENST00000164305.4 ENST00000164305.5 ENST00000164305.6 ENST00000164305.7 ENST00000164305.8 ENST00000164305.9 NM_004855 PIGB PIGB_HUMAN Q53FF9 Q8WVN7 Q92521 uc002act.1 uc002act.2 uc002act.3 uc002act.4 uc002act.5 This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: BC017711.1, D42138.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000164305.10/ ENSP00000164305.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Mannosyltransferase involved in glycosylphosphatidylinositol- anchor biosynthesis. Transfers the third alpha-1,2-mannose to Man2- GlcN-acyl-PI during GPI precursor assembly. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis. Endoplasmic reticulum membrane ; Multi-pass membrane protein Developmental and epileptic encephalopathy 80 (DEE80) [MIM:618580]: A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE80 is an autosomal recessive form characterized by onset of refractory seizures in the first year of life, severe global developmental delay and/or intellectual disability. Additional variable features include polyneuropathy, hearing loss, visual impairment, dysmorphic or coarse facial features, and distal skeletal abnormalities. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the glycosyltransferase 22 family. PIGB subfamily. mannosyltransferase activity glycolipid mannosyltransferase activity endoplasmic reticulum endoplasmic reticulum membrane GPI anchor biosynthetic process membrane integral component of membrane preassembly of GPI anchor in ER membrane transferase activity transferase activity, transferring glycosyl groups mannosylation uc002act.1 uc002act.2 uc002act.3 uc002act.4 uc002act.5 
ENST00000165524.1 PRLH ENST00000165524.1 Homo sapiens prolactin releasing hormone (PRLH), mRNA. (from RefSeq NM_015893) NM_015893 PRH PRLH Q53QV7 Q53QV7_HUMAN hCG_23020 uc010znl.1 uc010znl.2 tissue homeostasis response to dietary excess reduction of food intake in response to dietary excess hormone activity neuropeptide hormone activity cytoplasm energy reserve metabolic process lipid metabolic process G-protein coupled receptor signaling pathway feeding behavior response to glucose prolactin-releasing peptide receptor binding response to insulin regulation of multicellular organism growth eating behavior response to peptide hormone fat cell differentiation autonomic nervous system development uc010znl.1 uc010znl.2 
ENST00000166139.9 FSTL3 ENST00000166139.9 Homo sapiens follistatin like 3 (FSTL3), mRNA. (from RefSeq NM_005860) A8K7E3 ENST00000166139.1 ENST00000166139.2 ENST00000166139.3 ENST00000166139.4 ENST00000166139.5 ENST00000166139.6 ENST00000166139.7 ENST00000166139.8 FLRG FSTL3_HUMAN NM_005860 O95633 UNQ674/PRO1308 uc002lpk.1 uc002lpk.2 uc002lpk.3 uc002lpk.4 Follistatin-like 3 is a secreted glycoprotein of the follistatin-module-protein family. It may have a role in leukemogenesis. [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 :: BC005839.2, AY358917.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000166139.9/ ENSP00000166139.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Isoform 1 or 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 differentiationc. 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. Isoform 2 or the nuclear form is probably involved in transcriptional regulation via interaction with MLLT10. Interacts with INHBA and INHBB. Interacts with FN1. Interacts with ADAM12. Isoform 2 interacts with MLLT10; the interaction enhances MLLT10 in vitro transcriptional activity and self-association. Interacts with MSTN. O95633; O43184-2: ADAM12; NbExp=4; IntAct=EBI-2625790, EBI-2625865; [Isoform 1]: Secreted. [Isoform 2]: Nucleus. Note=Although alternative initiation has been demonstrated and resulted in different localization, the major source of nuclear FSTL3 appears not to depend on translation initiation at Met-27 according to. Event=Alternative initiation; Named isoforms=2; Name=1; IsoId=O95633-1; Sequence=Displayed; Name=2; IsoId=O95633-2; Sequence=VSP_038553; Expressed in a wide range of tissues. Note=A chromosomal aberration involving FSTL3 is found in a case of B-cell chronic lymphocytic leukemia. Translocation t(11;19)(q13;p13) with CCDN1. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/111/FSTL3"; ossification kidney development fibronectin binding hematopoietic progenitor cell differentiation protein binding extracellular region extracellular space nucleus nucleoplasm endoplasmic reticulum lumen 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 post-translational protein modification cellular protein metabolic process 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 uc002lpk.1 uc002lpk.2 uc002lpk.3 uc002lpk.4 
ENST00000166244.8 EPHA8 ENST00000166244.8 Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA. (from RefSeq NM_020526) EEK ENST00000166244.1 ENST00000166244.2 ENST00000166244.3 ENST00000166244.4 ENST00000166244.5 ENST00000166244.6 ENST00000166244.7 EPHA8_HUMAN HEK3 KIAA1459 NM_020526 P29322 Q6IN80 Q8IUX6 Q9NUA9 Q9P269 uc001bfx.1 uc001bfx.2 uc001bfx.3 This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. The protein encoded by this gene functions as a receptor for ephrin A2, A3 and A5 and plays a role in short-range contact-mediated axonal guidance during development of the mammalian nervous system. [provided by RefSeq, Jul 2008]. Receptor tyrosine kinase which binds promiscuously GPI- anchored 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. The GPI-anchored ephrin-A EFNA2, EFNA3, and EFNA5 are able to activate EPHA8 through phosphorylation. With EFNA5 may regulate integrin-mediated cell adhesion and migration on fibronectin substrate but also neurite outgrowth. During development of the nervous system also plays a role in axon guidance. Downstream effectors of the EPHA8 signaling pathway include FYN which promotes cell adhesion upon activation by EPHA8 and the MAP kinases in the stimulation of neurite outgrowth (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=2.7.10.1; 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. May also form heterodimers with other ephrin receptors (By similarity). Interacts with FYN; possible downstream effector of EPHA8 in regulation of cell adhesion. Interacts with PIK3CG; regulates integrin-mediated cell adhesion to substrate. Interacts with TIAM1; regulates clathrin- mediated endocytosis of EPHA8. Interacts with ANKS1A and ANKS1B; EPHA8 kinase activity-independent but stimulated by EPHA8 ubiquitination. Cell membrane ; Single-pass type I membrane protein Cell projection Early endosome membrane Note=Undergoes clathrin-mediated endocytosis upon EFNA5-binding and is targeted to early endosomes. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P29322-1; Sequence=Displayed; Name=2; IsoId=P29322-2; Sequence=VSP_041946, VSP_041947; Phosphorylated. Phosphorylation is stimulated upon binding of its ligands including EFNA2, EFNA3 and EFNA5. Autophosphorylation on Tyr- 616 is critical for association with FYN. Autophosphorylation on Tyr- 839 modulates tyrosine kinase activity (By similarity). Ubiquitinated. Ubiquitination by CBL regulates the receptor stability and activity through proteasomal degradation. ANKS1A prevents ubiquitination and degradation (By similarity). Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily. Sequence=CAA41980.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; nucleotide binding protein kinase activity protein tyrosine kinase activity transmembrane receptor protein tyrosine kinase activity ephrin receptor activity GPI-linked ephrin receptor activity transmembrane-ephrin receptor activity ATP binding endosome plasma membrane integral component of plasma membrane protein phosphorylation substrate-dependent cell migration cell adhesion transmembrane receptor protein tyrosine kinase signaling pathway multicellular organism development nervous system development axon guidance membrane integral component of membrane kinase activity phosphorylation neuron remodeling transferase activity peptidyl-tyrosine phosphorylation regulation of cell adhesion neuron projection development early endosome membrane regulation of cell adhesion mediated by integrin cell projection neuron projection receptor complex positive regulation of MAPK cascade positive regulation of phosphatidylinositol 3-kinase activity protein autophosphorylation ephrin receptor signaling pathway cellular response to follicle-stimulating hormone stimulus uc001bfx.1 uc001bfx.2 uc001bfx.3 
ENST00000166345.8 TRIP13 ENST00000166345.8 Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA. (from RefSeq NM_004237) C9K0T3 D3DTC0 ENST00000166345.1 ENST00000166345.2 ENST00000166345.3 ENST00000166345.4 ENST00000166345.5 ENST00000166345.6 ENST00000166345.7 NM_004237 O15324 PCH2 PCH2_HUMAN Q15645 uc003jbr.1 uc003jbr.2 uc003jbr.3 uc003jbr.4 uc003jbr.5 This gene encodes a protein that interacts with thyroid hormone receptors, also known as hormone-dependent transcription factors. The gene product interacts specifically with the ligand binding domain. This gene is one of several that may play a role in early-stage non-small cell lung cancer. [provided by RefSeq, Oct 2009]. 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 (By similarity). Plays a role in mitotic spindle assembly checkpoint (SAC) activation (PubMed:28553959). 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. Interacts with HPV16 E1. Interacts with proteasome subunit PSMA8; to participate in meiosis progression during spermatogenesis (By similarity). Q15645; Q5BKX5-3: ACTMAP; NbExp=3; IntAct=EBI-358993, EBI-11976299; Q15645; Q9Y303: AMDHD2; NbExp=3; IntAct=EBI-358993, EBI-2798672; Q15645; Q9Y303-2: AMDHD2; NbExp=3; IntAct=EBI-358993, EBI-12323557; Q15645; Q9NXR5-2: ANKRD10; NbExp=3; IntAct=EBI-358993, EBI-12102070; Q15645; Q969Q4: ARL11; NbExp=4; IntAct=EBI-358993, EBI-751892; Q15645; P15289: ARSA; NbExp=13; IntAct=EBI-358993, EBI-2117357; Q15645; Q8WXK3-2: ASB13; NbExp=3; IntAct=EBI-358993, EBI-12015080; Q15645; Q9H0W9: C11orf54; NbExp=3; IntAct=EBI-358993, EBI-740204; Q15645; Q9H0W9-3: C11orf54; NbExp=3; IntAct=EBI-358993, EBI-12108466; Q15645; Q8N1A6: C4orf33; NbExp=7; IntAct=EBI-358993, EBI-10264911; Q15645; Q9Y2V0: CDIN1; NbExp=3; IntAct=EBI-358993, EBI-1047601; Q15645; Q9Y4F5-3: CEP170B; NbExp=3; IntAct=EBI-358993, EBI-12950757; Q15645; A0A0S2Z515: CFP; NbExp=3; IntAct=EBI-358993, EBI-16434710; Q15645; Q8N3C7: CLIP4; NbExp=3; IntAct=EBI-358993, EBI-5655540; Q15645; P21964: COMT; NbExp=3; IntAct=EBI-358993, EBI-372265; Q15645; P21964-2: COMT; NbExp=3; IntAct=EBI-358993, EBI-10200977; Q15645; P53672: CRYBA2; NbExp=5; IntAct=EBI-358993, EBI-750444; Q15645; Q6BCY4: CYB5R2; NbExp=4; IntAct=EBI-358993, EBI-744761; Q15645; Q6BCY4-2: CYB5R2; NbExp=3; IntAct=EBI-358993, EBI-12102608; Q15645; O75935-2: DCTN3; NbExp=3; IntAct=EBI-358993, EBI-12091947; Q15645; O95865: DDAH2; NbExp=6; IntAct=EBI-358993, EBI-749139; Q15645; Q14689: DIP2A; NbExp=3; IntAct=EBI-358993, EBI-2564275; Q15645; Q14689-6: DIP2A; NbExp=3; IntAct=EBI-358993, EBI-10233719; Q15645; O14531: DPYSL4; NbExp=3; IntAct=EBI-358993, EBI-719542; Q15645; Q96G04: EEF2KMT; NbExp=3; IntAct=EBI-358993, EBI-747840; Q15645; Q9UBX5: FBLN5; NbExp=3; IntAct=EBI-358993, EBI-947897; Q15645; A0A0S2Z576: FBXO8; NbExp=3; IntAct=EBI-358993, EBI-16434722; Q15645; Q53EP0-3: FNDC3B; NbExp=6; IntAct=EBI-358993, EBI-10242151; Q15645; A0A0S2Z4I0: GALT; NbExp=3; IntAct=EBI-358993, EBI-16434744; Q15645; P07902: GALT; NbExp=4; IntAct=EBI-358993, EBI-750827; Q15645; Q8IVS8: GLYCTK; NbExp=9; IntAct=EBI-358993, EBI-748515; Q15645; Q9BSH5: HDHD3; NbExp=6; IntAct=EBI-358993, EBI-745201; Q15645; Q86VF2-5: IGFN1; NbExp=3; IntAct=EBI-358993, EBI-11955401; Q15645; P14784: IL2RB; NbExp=3; IntAct=EBI-358993, EBI-2866779; Q15645; Q0VD86: INCA1; NbExp=3; IntAct=EBI-358993, EBI-6509505; Q15645; P59990: KRTAP12-1; NbExp=6; IntAct=EBI-358993, EBI-10210845; Q15645; P59991: KRTAP12-2; NbExp=3; IntAct=EBI-358993, EBI-10176379; Q15645; P60329: KRTAP12-4; NbExp=3; IntAct=EBI-358993, EBI-10176396; Q15645; Q6PEX3: KRTAP26-1; NbExp=3; IntAct=EBI-358993, EBI-3957672; Q15645; Q3LI64: KRTAP6-1; NbExp=4; IntAct=EBI-358993, EBI-12111050; Q15645; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-358993, EBI-11962084; Q15645; Q16773: KYAT1; NbExp=3; IntAct=EBI-358993, EBI-10238309; Q15645; Q14847: LASP1; NbExp=7; IntAct=EBI-358993, EBI-742828; Q15645; Q14847-2: LASP1; NbExp=3; IntAct=EBI-358993, EBI-9088686; Q15645; Q8TBB1: LNX1; NbExp=8; IntAct=EBI-358993, EBI-739832; Q15645; Q96JB6: LOXL4; NbExp=6; IntAct=EBI-358993, EBI-749562; Q15645; Q96L50: LRR1; NbExp=3; IntAct=EBI-358993, EBI-2510106; Q15645; Q8TC57: M1AP; NbExp=3; IntAct=EBI-358993, EBI-748182; Q15645; Q15013: MAD2L1BP; NbExp=9; IntAct=EBI-358993, EBI-712181; Q15645; Q6P9B6: MEAK7; NbExp=4; IntAct=EBI-358993, EBI-746504; Q15645; A6NJ78-4: METTL15; NbExp=6; IntAct=EBI-358993, EBI-10174029; Q15645; Q6PF18: MORN3; NbExp=3; IntAct=EBI-358993, EBI-9675802; Q15645; Q15777: MPPED2; NbExp=8; IntAct=EBI-358993, EBI-2350461; Q15645; Q96EZ4: MYEOV; NbExp=3; IntAct=EBI-358993, EBI-12260130; Q15645; Q9GZT8: NIF3L1; NbExp=3; IntAct=EBI-358993, EBI-740897; Q15645; O00746: NME4; NbExp=4; IntAct=EBI-358993, EBI-744871; Q15645; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-358993, EBI-741158; Q15645; P55771: PAX9; NbExp=3; IntAct=EBI-358993, EBI-12111000; Q15645; P30039: PBLD; NbExp=4; IntAct=EBI-358993, EBI-750589; Q15645; Q6PIM4: PCMTD2; NbExp=3; IntAct=EBI-358993, EBI-10253759; Q15645; Q92824-2: PCSK5; NbExp=3; IntAct=EBI-358993, EBI-11956269; Q15645; Q96FA3: PELI1; NbExp=3; IntAct=EBI-358993, EBI-448369; Q15645; Q9NRY6: PLSCR3; NbExp=7; IntAct=EBI-358993, EBI-750734; Q15645; Q9NRQ2: PLSCR4; NbExp=5; IntAct=EBI-358993, EBI-769257; Q15645; P62875: POLR2L; NbExp=3; IntAct=EBI-358993, EBI-359527; Q15645; P67775: PPP2CA; NbExp=6; IntAct=EBI-358993, EBI-712311; Q15645; P54646: PRKAA2; NbExp=3; IntAct=EBI-358993, EBI-1383852; Q15645; O60260: PRKN; NbExp=4; IntAct=EBI-358993, EBI-716346; Q15645; Q9NZ81: PRR13; NbExp=3; IntAct=EBI-358993, EBI-740924; Q15645; P28062-2: PSMB8; NbExp=3; IntAct=EBI-358993, EBI-372312; Q15645; P47897: QARS1; NbExp=6; IntAct=EBI-358993, EBI-347462; Q15645; P47897-2: QARS1; NbExp=3; IntAct=EBI-358993, EBI-10209725; Q15645; Q9BQY4: RHOXF2; NbExp=8; IntAct=EBI-358993, EBI-372094; Q15645; P78317: RNF4; NbExp=3; IntAct=EBI-358993, EBI-2340927; Q15645; P22307: SCP2; NbExp=4; IntAct=EBI-358993, EBI-1050999; Q15645; O00560: SDCBP; NbExp=3; IntAct=EBI-358993, EBI-727004; Q15645; Q13228: SELENBP1; NbExp=6; IntAct=EBI-358993, EBI-711619; Q15645; Q13214-2: SEMA3B; NbExp=3; IntAct=EBI-358993, EBI-11017428; Q15645; Q9NTN9: SEMA4G; NbExp=3; IntAct=EBI-358993, EBI-6447340; Q15645; Q9NTN9-3: SEMA4G; NbExp=3; IntAct=EBI-358993, EBI-9089805; Q15645; Q9H0F6-2: SHARPIN; NbExp=3; IntAct=EBI-358993, EBI-9843813; Q15645; O15389: SIGLEC5; NbExp=4; IntAct=EBI-358993, EBI-750381; Q15645; Q96LM6: SPMIP9; NbExp=7; IntAct=EBI-358993, EBI-743976; Q15645; Q5W111: SPRYD7; NbExp=3; IntAct=EBI-358993, EBI-10248098; Q15645; O95630: STAMBP; NbExp=4; IntAct=EBI-358993, EBI-396676; Q15645; Q96A09: TENT5B; NbExp=3; IntAct=EBI-358993, EBI-752030; Q15645; Q9GZM7: TINAGL1; NbExp=6; IntAct=EBI-358993, EBI-715869; Q15645; Q9GZM7-3: TINAGL1; NbExp=3; IntAct=EBI-358993, EBI-10303636; Q15645; Q8NDV7: TNRC6A; NbExp=3; IntAct=EBI-358993, EBI-2269715; Q15645; P13693: TPT1; NbExp=3; IntAct=EBI-358993, EBI-1783169; Q15645; Q15645: TRIP13; NbExp=8; IntAct=EBI-358993, EBI-358993; Q15645; Q7KZS0: UBE2I; NbExp=3; IntAct=EBI-358993, EBI-10180829; Q15645; P11473: VDR; NbExp=3; IntAct=EBI-358993, EBI-286357; Q15645; O95231: VENTX; NbExp=3; IntAct=EBI-358993, EBI-10191303; Q15645; Q9UJ78-2: ZMYM5; NbExp=3; IntAct=EBI-358993, EBI-17634549; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q15645-1; Sequence=Displayed; Name=2; IsoId=Q15645-2; Sequence=VSP_016957; Mosaic variegated aneuploidy syndrome 3 (MVA3) [MIM:617598]: A form of mosaic variegated aneuploidy syndrome, a severe disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. MVA3 inheritance is autosomal recessive. Note=The disease is caused by variants affecting the gene represented in this entry. MVA3 is caused by biallelic mutations in the TRIP13 gene. Oocyte/zygote/embryo maturation arrest 9 (OZEMA9) [MIM:619011]: An autosomal recessive infertility disorder due to oocyte meiotic arrest at metaphase I. Abnormal zygotic cleavage has been observed in some patients. Note=The disease may be caused by variants affecting the gene represented in this entry. Belongs to the AAA ATPase family. PCH2 subfamily. Sequence=AAC41732.1; Type=Frameshift; Evidence=; nucleotide binding oocyte maturation male germ cell nucleus transcription cofactor activity protein binding ATP binding nucleus chromosome double-strand break repair transcription from RNA polymerase II promoter 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 regulation of nucleic acid-templated transcription uc003jbr.1 uc003jbr.2 uc003jbr.3 uc003jbr.4 uc003jbr.5 
ENST00000167106.9 VASH1 ENST00000167106.9 Homo sapiens vasohibin 1 (VASH1), mRNA. (from RefSeq NM_014909) ENST00000167106.1 ENST00000167106.2 ENST00000167106.3 ENST00000167106.4 ENST00000167106.5 ENST00000167106.6 ENST00000167106.7 ENST00000167106.8 KIAA1036 NM_014909 Q7L8A9 Q96H02 Q9UBF4 Q9Y629 VASH VASH1 VASH1_HUMAN uc001xst.1 uc001xst.2 uc001xst.3 uc001xst.4 Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function (PubMed:29146869, PubMed:31270470, PubMed:31235910, PubMed:31171830, PubMed:31235911). Critical for spindle function and accurate chromosome segregation during mitosis since microtubule detyronisation regulates mitotic spindle length and postioning (PubMed:31171830). Acts as an angiogenesis inhibitor: inhibits migration, proliferation and network formation by endothelial cells as well as angiogenesis (PubMed:15467828, PubMed:16488400, PubMed:16707096, PubMed:19204325). This inhibitory effect is selective to endothelial cells as it does not affect the migration of smooth muscle cells or fibroblasts (PubMed:15467828, PubMed:16488400, PubMed:16707096). 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= Kinetic parameters: KM=7.9 uM for alpha-tubulin C-terminal tail ; Note=kcat is 44.5 min(-1) for alpha-tubulin C-terminal tail. ; Interacts with SVBP; interaction enhances VASH1 tyrosine carboxypeptidase activity. Q7L8A9; P49366: DHPS; NbExp=3; IntAct=EBI-10256546, EBI-741925; Q7L8A9-1; Q8N300: SVBP; NbExp=2; IntAct=EBI-21497569, EBI-21497577; Cytoplasm creted te=Mainly localizes in the cytoplasm (PubMed:27879017). Some fraction is secreted via a non-canonical secretion system; interaction with SVBP promotes secretion (PubMed:27879017). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q7L8A9-1; Sequence=Displayed; Name=2; IsoId=Q7L8A9-2; Sequence=VSP_013324, VSP_013325; Preferentially expressed in endothelial cells (PubMed:15467828, PubMed:16707096). Highly expressed in fetal organs (PubMed:15467828). Expressed in brain and placenta, and at lower level in heart and kidney (PubMed:15467828). Highly detected in microvessels endothelial cells of atherosclerotic lesions (PubMed:16707096). By VEGF. 2 major forms (42 and 36 kDa) and 2 minors (32 and 27 kDa) may be processed by proteolytic cleavage (PubMed:16488400). The largest form (42 kDa) seems to be secreted and the other major form (63 kDa) seems to accumulate within the cells or pericellular milieu (PubMed:16488400). Polypeptide consisting of Met-77 to Arg-318 may correspond to the 27 kDa form and that consisting of Met-77 to Val-365 may correspond to the 36 kDa form (PubMed:16488400). Ubiquitinated in vitro. Belongs to the transglutaminase-like superfamily. Vasohibin family. Sequence=AAD44361.1; Type=Erroneous gene model prediction; Evidence=; Sequence=BAA82988.2; Type=Erroneous initiation; Note=Extended N-terminus.; 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 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 uc001xst.1 uc001xst.2 uc001xst.3 uc001xst.4 
ENST00000167586.7 KRT14 ENST00000167586.7 Homo sapiens keratin 14 (KRT14), mRNA. (from RefSeq NM_000526) ENST00000167586.1 ENST00000167586.2 ENST00000167586.3 ENST00000167586.4 ENST00000167586.5 ENST00000167586.6 K1C14_HUMAN NM_000526 P02533 Q14715 Q53XY3 Q9BUE3 Q9UBN2 Q9UBN3 Q9UCY4 uc002hxf.1 uc002hxf.2 uc002hxf.3 uc002hxf.4 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. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [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 :: BC094830.1, BC019097.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145893, SAMEA2147596 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000167586.7/ ENSP00000167586.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## 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 (By similarity). Forms a disulfide-linked heterodimer (via 2B domains) with KRT5 (via 2B domains) (PubMed:24940650, PubMed:22705788). Forms a heterodimer with KRT1; the interaction is more abundant in the absence of KRT5 (By similarity). Interacts with PLEC isoform 1C, when in a heterodimer with KRT5 (PubMed:24940650). Interacts with TRADD and with keratin filaments (PubMed:11684708). Associates with other type I keratins (PubMed:11724817). Interacts with EPPK1 (By similarity). Interacts with KLHL24 (PubMed:27798626). Interacts with PKP1 (via N- terminus) and PKP2 (PubMed:10852826). P02533; Q9NYB9-2: ABI2; NbExp=3; IntAct=EBI-702178, EBI-11096309; P02533; Q9P2A4: ABI3; NbExp=3; IntAct=EBI-702178, EBI-742038; P02533; A2BDD9: AMOT; NbExp=3; IntAct=EBI-702178, EBI-17286414; P02533; Q13515: BFSP2; NbExp=3; IntAct=EBI-702178, EBI-10229433; P02533; Q8WZ74: CTTNBP2; NbExp=3; IntAct=EBI-702178, EBI-1774260; P02533; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-702178, EBI-744099; P02533; O95995: GAS8; NbExp=3; IntAct=EBI-702178, EBI-1052570; P02533; O14964: HGS; NbExp=3; IntAct=EBI-702178, EBI-740220; P02533; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-702178, EBI-14069005; P02533; P04264: KRT1; NbExp=3; IntAct=EBI-702178, EBI-298429; P02533; P12035: KRT3; NbExp=3; IntAct=EBI-702178, EBI-2430095; P02533; P13647: KRT5; NbExp=8; IntAct=EBI-702178, EBI-702187; P02533; P48668: KRT6C; NbExp=3; IntAct=EBI-702178, EBI-2564105; P02533; Q14CN4: KRT72; NbExp=3; IntAct=EBI-702178, EBI-1221280; P02533; Q8N1N4: KRT78; NbExp=3; IntAct=EBI-702178, EBI-1056564; P02533; Q5XKE5: KRT79; NbExp=3; IntAct=EBI-702178, EBI-2514135; P02533; Q6KB66-2: KRT80; NbExp=3; IntAct=EBI-702178, EBI-11999246; P02533; Q14533: KRT81; NbExp=3; IntAct=EBI-702178, EBI-739648; P02533; O43790: KRT86; NbExp=3; IntAct=EBI-702178, EBI-9996498; P02533; O43482: OIP5; NbExp=3; IntAct=EBI-702178, EBI-536879; P02533; Q13835-2: PKP1; NbExp=2; IntAct=EBI-702178, EBI-9087684; P02533; P41219: PRPH; NbExp=3; IntAct=EBI-702178, EBI-752074; P02533; Q3MIT2: PUS10; NbExp=3; IntAct=EBI-702178, EBI-11983583; P02533; O00560: SDCBP; NbExp=3; IntAct=EBI-702178, EBI-727004; P02533; Q969G3: SMARCE1; NbExp=3; IntAct=EBI-702178, EBI-455078; P02533; P57075-2: UBASH3A; NbExp=3; IntAct=EBI-702178, EBI-7353612; P02533; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-702178, EBI-739895; Cytoplasm cleus Note=Expressed in both as a filamentous pattern. Expressed in the corneal epithelium (at protein level) (PubMed:26758872). Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair (PubMed:9457912). Found in keratinocytes surrounding the club hair during telogen (PubMed:9457912). 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. Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760]: A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1A is an autosomal dominant form characterized by generalized intraepidermal skin blistering that begins and is very prominent at birth. EBS1A may be life-threatening in the first year of life. Tendency to blistering diminishes in adolescence. te=The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800]: A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1C is an autosomal dominant form with intraepidermal blistering mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic. te=The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900]: A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1B is an autosomal dominant form characterized by generalized intraepidermal blistering beginning at birth. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. te=The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive (EBS1D) [MIM:601001]: A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1D is an autosomal recessive form characterized by blistering beginning at birth or early childhood. In some patients hands and feet are primarily affected, and in others blistering anywhere on the body may occur. In some patients the condition improves with age. te=The disease is caused by variants affecting the gene represented in this entry. Naegeli-Franceschetti-Jadassohn syndrome (NFJS) [MIM:161000]: A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. Note=The disease is caused by variants affecting the gene represented in this entry. Dermatopathia pigmentosa reticularis (DPR) [MIM:125595]: A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. Note=The disease is caused by variants affecting the gene represented in this entry. 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 structural constituent of cytoskeleton protein binding nucleus cytoplasm cytosol intermediate filament aging epidermis development response to zinc ion response to ionizing radiation epithelial cell differentiation keratinization hemidesmosome assembly hair cycle keratin filament intermediate filament bundle assembly basal part of cell extracellular exosome cornification cell periphery keratin filament binding uc002hxf.1 uc002hxf.2 uc002hxf.3 uc002hxf.4 
ENST00000167588.4 KRT20 ENST00000167588.4 Homo sapiens keratin 20 (KRT20), mRNA. (from RefSeq NM_019010) B2R6W7 ENST00000167588.1 ENST00000167588.2 ENST00000167588.3 K1C20_HUMAN NM_019010 P35900 uc002hvl.1 uc002hvl.2 uc002hvl.3 uc002hvl.4 uc002hvl.5 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. This cytokeratin is a major cellular protein of mature enterocytes and goblet cells and is specifically expressed in the gastric and intestinal mucosa. The type I cytokeratin genes are clustered in a region of chromosome 17q12-q21. [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 :: AK312744.1, BC031559.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2152474 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000167588.4/ ENSP00000167588.3 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 (By similarity). Heterotetramer of two type I and two type II keratins. Associates with KRT8. P35900; Q9NYB9: ABI2; NbExp=3; IntAct=EBI-742094, EBI-743598; P35900; Q9Y2J4-4: AMOTL2; NbExp=3; IntAct=EBI-742094, EBI-10187270; P35900; Q9BUW7: BBLN; NbExp=9; IntAct=EBI-742094, EBI-752084; P35900; O75934: BCAS2; NbExp=3; IntAct=EBI-742094, EBI-1050106; P35900; A0A1B0GWI1: CCDC196; NbExp=3; IntAct=EBI-742094, EBI-10181422; P35900; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-742094, EBI-3867333; P35900; P17661: DES; NbExp=3; IntAct=EBI-742094, EBI-1055572; P35900; P42858: HTT; NbExp=9; IntAct=EBI-742094, EBI-466029; P35900; A1A4E9: KRT13; NbExp=3; IntAct=EBI-742094, EBI-10171552; P35900; P19012: KRT15; NbExp=5; IntAct=EBI-742094, EBI-739566; P35900; Q2M2I5: KRT24; NbExp=3; IntAct=EBI-742094, EBI-2952736; P35900; Q7Z3Y8: KRT27; NbExp=3; IntAct=EBI-742094, EBI-3044087; P35900; P12035: KRT3; NbExp=3; IntAct=EBI-742094, EBI-2430095; P35900; Q15323: KRT31; NbExp=3; IntAct=EBI-742094, EBI-948001; P35900; O76011: KRT34; NbExp=3; IntAct=EBI-742094, EBI-1047093; P35900; Q6A162: KRT40; NbExp=3; IntAct=EBI-742094, EBI-10171697; P35900; Q14CN4: KRT72; NbExp=3; IntAct=EBI-742094, EBI-1221280; P35900; O95678: KRT75; NbExp=3; IntAct=EBI-742094, EBI-2949715; P35900; Q01546: KRT76; NbExp=3; IntAct=EBI-742094, EBI-2952745; P35900; Q6KB66: KRT80; NbExp=3; IntAct=EBI-742094, EBI-3046635; P35900; Q6KB66-2: KRT80; NbExp=3; IntAct=EBI-742094, EBI-11999246; P35900; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-742094, EBI-11959885; P35900; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-742094, EBI-10172290; P35900; P60410: KRTAP10-8; NbExp=6; IntAct=EBI-742094, EBI-10171774; P35900; P60411: KRTAP10-9; NbExp=3; IntAct=EBI-742094, EBI-10172052; P35900; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-742094, EBI-11953334; P35900; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-742094, EBI-945833; P35900; P37198: NUP62; NbExp=7; IntAct=EBI-742094, EBI-347978; P35900; O00459: PIK3R2; NbExp=3; IntAct=EBI-742094, EBI-346930; P35900; Q96KQ4: PPP1R13B; NbExp=3; IntAct=EBI-742094, EBI-1105153; P35900; P41219: PRPH; NbExp=6; IntAct=EBI-742094, EBI-752074; P35900; O95295: SNAPIN; NbExp=3; IntAct=EBI-742094, EBI-296723; P35900; Q9UBB9: TFIP11; NbExp=7; IntAct=EBI-742094, EBI-1105213; P35900; P40222: TXLNA; NbExp=6; IntAct=EBI-742094, EBI-359793; P35900; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-742094, EBI-739895; P35900; P08670: VIM; NbExp=8; IntAct=EBI-742094, EBI-353844; Cytoplasm Expressed predominantly in the intestinal epithelium. Expressed in luminal cells of colonic mucosa. Also expressed in the Merkel cells of keratinized oral mucosa; specifically at the tips of some rete ridges of the gingival mucosa, in the basal layer of the palatal mucosa and in the taste buds of lingual mucosa. First detected at embryonic week 8 in individual 'converted' simple epithelial cells of the developing intestinal mucosa. In later fetal stages, synthesis extends over most goblet cells and a variable number of villus enterocytes. In the developing gastric and intestinal mucosa, expressed in all enterocytes and goblet cells as well as certain 'low-differentiated' columnar cells, whereas the neuroendocrine and Paneth cells are negative. Hyperphosphorylation at Ser-13 occurs during the early stages of apoptosis but becomes less prominent during the later stages. Phosphorylation at Ser-13 also increases in response to stress brought on by cell injury (By similarity). Proteolytically cleaved by caspases during apoptosis. Cleavage occurs at Asp-228. 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 structural constituent of cytoskeleton protein binding cytoplasm cytosol intermediate filament apoptotic process cellular response to starvation keratinization intermediate filament organization regulation of protein secretion cornification uc002hvl.1 uc002hvl.2 uc002hvl.3 uc002hvl.4 uc002hvl.5 
ENST00000168148.8 SPP2 ENST00000168148.8 Homo sapiens secreted phosphoprotein 2 (SPP2), mRNA. (from RefSeq NM_006944) A4QMV3 ENST00000168148.1 ENST00000168148.2 ENST00000168148.3 ENST00000168148.4 ENST00000168148.5 ENST00000168148.6 ENST00000168148.7 NM_006944 Q13103 Q3B892 Q546M5 SPP24 SPP24_HUMAN uc002vvk.1 uc002vvk.2 uc002vvk.3 This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 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 :: SRR5189664.151662.1, SRR5189664.41883.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145122, SAMEA2155590 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000168148.8/ ENSP00000168148.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Could coordinate an aspect of bone turnover. Secreted. Detected in liver and plasma. Found in fetal liver and kidney. Phosphorylation sites are present in the extracellular medium. Belongs to the SPP2 family. skeletal system development platelet degranulation endopeptidase inhibitor activity extracellular region endoplasmic reticulum lumen negative regulation of endopeptidase activity platelet dense granule lumen post-translational protein modification cellular protein metabolic process bone remodeling uc002vvk.1 uc002vvk.2 uc002vvk.3 
ENST00000168216.11 HSD17B10 ENST00000168216.11 Homo sapiens hydroxysteroid 17-beta dehydrogenase 10 (HSD17B10), transcript variant 1, mRNA. (from RefSeq NM_004493) ENST00000168216.1 ENST00000168216.10 ENST00000168216.2 ENST00000168216.3 ENST00000168216.4 ENST00000168216.5 ENST00000168216.6 ENST00000168216.7 ENST00000168216.8 ENST00000168216.9 ERAB HADH2 HCD2_HUMAN MRPP2 NM_004493 Q5H927 Q6IBS9 Q8TCV9 Q96HD5 Q99714 SCHAD SDR5C1 XH98G2 uc004dsl.1 uc004dsl.2 uc004dsl.3 This gene encodes 3-hydroxyacyl-CoA dehydrogenase type II, a member of the short-chain dehydrogenase/reductase superfamily. The gene product is a mitochondrial protein that catalyzes the oxidation of a wide variety of fatty acids and steroids, and is a subunit of mitochondrial ribonuclease P, which is involved in tRNA maturation. The protein has been implicated in the development of Alzheimer disease, and mutations in the gene are the cause of 17beta-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Aug 2014]. Mitochondrial dehydrogenase involved in pathways of fatty acid, branched-chain amino acid and steroid metabolism (PubMed:9553139, PubMed:10600649, PubMed:12917011, PubMed:20077426, PubMed:18996107, PubMed:19706438, PubMed:25925575, PubMed:26950678, PubMed:28888424). Acts as (S)-3-hydroxyacyl-CoA dehydrogenase in mitochondrial fatty acid beta-oxidation, a major degradation pathway of fatty acids. Catalyzes the third step in the beta-oxidation cycle, namely the reversible conversion of (S)-3-hydroxyacyl-CoA to 3-ketoacyl-CoA. Preferentially accepts straight medium- and short-chain acyl-CoA substrates with highest efficiency for (3S)-hydroxybutanoyl-CoA (PubMed:9553139, PubMed:10600649, PubMed:12917011, PubMed:25925575, PubMed:26950678). Acts as 3-hydroxy-2-methylbutyryl-CoA dehydrogenase in branched-chain amino acid catabolic pathway. Catalyzes the oxidation of 3-hydroxy-2- methylbutanoyl-CoA into 2-methyl-3-oxobutanoyl-CoA, a step in isoleucine degradation pathway (PubMed:20077426, PubMed:18996107, PubMed:19706438). Has hydroxysteroid dehydrogenase activity toward steroid hormones and bile acids. Catalyzes the oxidation of 3alpha-, 17beta-, 20beta- and 21-hydroxysteroids and 7alpha- and 7beta-hydroxy bile acids (PubMed:10600649, PubMed:12917011). Oxidizes allopregnanolone/brexanolone at the 3alpha-hydroxyl group, which is known to be critical for the activation of gamma-aminobutyric acid receptors (GABAARs) chloride channel (PubMed:19706438, PubMed:28888424). Has phospholipase C-like activity toward cardiolipin and its oxidized species. Likely oxidizes the 2'-hydroxyl in the head group of cardiolipin to form a ketone intermediate that undergoes nucleophilic attack by water and fragments into diacylglycerol, dihydroxyacetone and orthophosphate. Has higher affinity for cardiolipin with oxidized fatty acids and may degrade these species during the oxidative stress response to protect cells from apoptosis (PubMed:26338420). By interacting with intracellular amyloid-beta, it may contribute to the neuronal dysfunction associated with Alzheimer disease (AD) (PubMed:9338779). Essential for structural and functional integrity of mitochondria (PubMed:20077426). In addition to mitochondrial dehydrogenase activity, moonlights as a component of mitochondrial ribonuclease P, a complex that cleaves tRNA molecules in their 5'-ends (PubMed:18984158, PubMed:24549042, PubMed:25925575, PubMed:26950678, PubMed:28888424). Together with TRMT10C/MRPP1, forms a subcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2 subcomplex, which displays functions that are independent of the ribonuclease P activity (PubMed:23042678, PubMed:29040705). The MRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9, respectively) in tRNAs; HSD17B10/MRPP2 acting as a non-catalytic subunit (PubMed:23042678, PubMed:25925575, PubMed:28888424). The MRPP1- MRPP2 subcomplex also acts as a tRNA maturation platform: following 5'- end cleavage by the mitochondrial ribonuclease P complex, the MRPP1- MRPP2 subcomplex enhances the efficiency of 3'-processing catalyzed by ELAC2, retains the tRNA product after ELAC2 processing and presents the nascent tRNA to the mitochondrial CCA tRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705). Associates with mitochondrial DNA complexes at the nucleoids to initiate RNA processing and ribosome assembly. Reaction=a (3S)-3-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH; Xref=Rhea:RHEA:22432, ChEBI:CHEBI:15378, ChEBI:CHEBI:57318, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:90726; EC=1.1.1.35; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22433; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:22434; Evidence= Reaction=(2S,3S)-3-hydroxy-2-methylbutanoyl-CoA + NAD(+) = 2-methyl-3- oxobutanoyl-CoA + H(+) + NADH; Xref=Rhea:RHEA:13281, ChEBI:CHEBI:15378, ChEBI:CHEBI:57312, ChEBI:CHEBI:57335, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.178; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:13282; Evidence= Reaction=NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH; Xref=Rhea:RHEA:14929, ChEBI:CHEBI:15378, ChEBI:CHEBI:16422, ChEBI:CHEBI:17347, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.239; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:14930; Evidence=; Reaction=5alpha-androstane-3alpha,17beta-diol + NAD(+) = 17beta- hydroxy-5alpha-androstan-3-one + H(+) + NADH; Xref=Rhea:RHEA:42004, ChEBI:CHEBI:15378, ChEBI:CHEBI:16330, ChEBI:CHEBI:36713, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.53; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:42006; Evidence=; Reaction=17beta-estradiol + NAD(+) = estrone + H(+) + NADH; Xref=Rhea:RHEA:24612, ChEBI:CHEBI:15378, ChEBI:CHEBI:16469, ChEBI:CHEBI:17263, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.62; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:24613; Evidence=; Reaction=cholate + NAD(+) = 3alpha,12alpha-dihydroxy-7-oxo-5beta- cholanate + H(+) + NADH; Xref=Rhea:RHEA:19409, ChEBI:CHEBI:11893, ChEBI:CHEBI:15378, ChEBI:CHEBI:29747, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.159; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19410; Evidence=; Reaction=(3S)-3-hydroxybutanoyl-CoA + NAD(+) = acetoacetyl-CoA + H(+) + NADH; Xref=Rhea:RHEA:30799, ChEBI:CHEBI:15378, ChEBI:CHEBI:57286, ChEBI:CHEBI:57316, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:30800; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:30801; Evidence= Reaction=(3S)-hydroxyoctanoyl-CoA + NAD(+) = 3-oxooctanoyl-CoA + H(+) + NADH; Xref=Rhea:RHEA:31195, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:62617, ChEBI:CHEBI:62619; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:31196; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:31197; Evidence=; Reaction=(3S)-hydroxyhexadecanoyl-CoA + NAD(+) = 3-oxohexadecanoyl-CoA + H(+) + NADH; Xref=Rhea:RHEA:31159, ChEBI:CHEBI:15378, ChEBI:CHEBI:57349, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:62613; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:31160; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:31161; Evidence=; Reaction=17beta-hydroxy-5alpha-androstan-3-one + NAD(+) = 5alpha- androstan-3,17-dione + H(+) + NADH; Xref=Rhea:RHEA:41992, ChEBI:CHEBI:15378, ChEBI:CHEBI:15994, ChEBI:CHEBI:16330, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41993; Evidence=; Reaction=5alpha-pregnan-20beta-ol-3-one + NAD(+) = 5alpha-pregnane- 3,20-dione + H(+) + NADH; Xref=Rhea:RHEA:42008, ChEBI:CHEBI:15378, ChEBI:CHEBI:28952, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78594; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42009; Evidence=; Reaction=3alpha-hydroxy-5alpha-pregnan-20-one + NAD(+) = 5alpha- pregnane-3,20-dione + H(+) + NADH; Xref=Rhea:RHEA:41980, ChEBI:CHEBI:15378, ChEBI:CHEBI:28952, ChEBI:CHEBI:50169, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41981; Evidence=; Reaction=cortisone + NAD(+) = 17alpha-hydroxypregn-4-en-3,11,20-trione- 21-al + H(+) + NADH; Xref=Rhea:RHEA:42016, ChEBI:CHEBI:15378, ChEBI:CHEBI:16962, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78596; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42017; Evidence=; Reaction=11-dehydrocorticosterone + NAD(+) = H(+) + NADH + pregn-4-ene- 3,11,20,21-tetraone; Xref=Rhea:RHEA:42020, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78600, ChEBI:CHEBI:78601; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42021; Evidence=; Reaction=cortisol + NAD(+) = 11beta,17alpha-dihydroxypregn-4-ene- 3,20,21-trione + H(+) + NADH; Xref=Rhea:RHEA:42012, ChEBI:CHEBI:15378, ChEBI:CHEBI:17650, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78595; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42013; Evidence=; Reaction=chenodeoxycholate + NAD(+) = 7-oxolithocholate + H(+) + NADH; Xref=Rhea:RHEA:42036, ChEBI:CHEBI:15378, ChEBI:CHEBI:36234, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78605; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42037; Evidence=; Reaction=NAD(+) + ursodeoxycholate = 7-oxolithocholate + H(+) + NADH; Xref=Rhea:RHEA:42028, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78604, ChEBI:CHEBI:78605; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42029; Evidence=; Reaction=3beta,7beta-dihydroxy-5beta-cholan-24-oate + NAD(+) = 3beta- hydroxy-7-oxo-5beta-cholan-24-oate + H(+) + NADH; Xref=Rhea:RHEA:42024, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:78602, ChEBI:CHEBI:78603; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:42025; Evidence=; The phospholipase C-like activity toward cardiolipin is inhibited by amyloid-beta peptide. Kinetic parameters: KM=25.7 uM for acetoacetyl-CoA (in the presence of 0.2 mM NADH, at pH 7.0 and 25 degrees Celsius) ; KM=85.2 uM for beta-hydroxybutyryl-CoA (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) ; KM=41 uM for androsterone (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) ; KM=5 uM for 5-alpha-pregnan-20-beta-ol-3-one (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) ; KM=219 uM for isoursodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) ; KM=36.4 uM for chenodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) ; KM=1.7 uM for dehydrocorticosterone (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) ; KM=30.6 uM for NADH (in the presence of acetoacetyl-CoA, at pH 7.0 and 25 degrees Celsius) ; KM=42.3 uM for NAD (in the presence of beta-hydroxybutyryl-CoA, at pH 9.3 and 25 degrees Celsius) ; KM=69 uM for DL-3-hydroxybutyryl-CoA ; KM=7.7 uM for 3alpha-hydroxy-5alpha-pregnan-20-one/allopregnanolone ; KM=30 uM for 3alpha-hydroxy-5alpha-pregnan-20-one/allopregnanolone ; KM=140 uM for tetramyristoyl cardiolipin ; KM=148 uM for tetralinoleoyl cardiolipin ; KM=40 uM for oxidized tetralinoleoyl cardiolipin ; KM=7.1 uM for (2S,3S)-3-hydroxy-2-methylbutanoyl-CoA ; Vmax=14.8 umol/min/mg enzyme toward (2S,3S)-3-hydroxy-2- methylbutanoyl-CoA ; Vmax=150 umol/min/mg enzyme 3alpha-hydroxy-5alpha-pregnan-20- one/allopregnanolone ; Note=kcat is 458 min(-1) for DL-3-hydroxybutyryl-CoA (PubMed:28888424). kcat is 706 min(-1) for allopregnanolone (PubMed:28888424). ; pH dependence: Optimum pH is 9.3 for the dehydrogenase reaction at 25 degrees Celsius, and 7.0 for the reductase reaction at 25 degrees Celsius. ; Amino-acid degradation; L-isoleucine degradation. Lipid metabolism; fatty acid beta-oxidation. Steroid metabolism. Lipid metabolism; bile acid biosynthesis. Homotetramer (PubMed:15342248, PubMed:20077426, PubMed:25925575). Component of mitochondrial ribonuclease P, a complex composed of TRMT10C/MRPP1, HSD17B10/MRPP2 and PRORP/MRPP3 (PubMed:18984158, PubMed:25925575, PubMed:26950678, PubMed:28888424). Interacts with TRMT10C/MRPP1; forming the MRPP1-MRPP2 subcomplex of the mitochondrial ribonuclease P complex (PubMed:23042678, PubMed:29040705). Q99714; P05067: APP; NbExp=7; IntAct=EBI-79964, EBI-77613; Q99714; PRO_0000000092 [P05067]: APP; NbExp=2; IntAct=EBI-79964, EBI-821758; Q99714; P13639: EEF2; NbExp=3; IntAct=EBI-79964, EBI-352560; Q99714; Q12931: TRAP1; NbExp=3; IntAct=EBI-79964, EBI-1055869; Q99714; Q7L0Y3: TRMT10C; NbExp=22; IntAct=EBI-79964, EBI-2107046; Q99714-2; P05067: APP; NbExp=3; IntAct=EBI-25939412, EBI-77613; Mitochondrion tochondrion matrix, mitochondrion nucleoid Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99714-1; Sequence=Displayed; Name=2; IsoId=Q99714-2; Sequence=VSP_007830; Ubiquitously expressed in normal tissues but is overexpressed in neurons affected in AD. HSD10 mitochondrial disease (HSD10MD) [MIM:300438]: An X- linked multisystemic disorder with highly variable severity. Age at onset ranges from the neonatal period to early childhood. Features include progressive neurodegeneration, psychomotor retardation, loss of mental and motor skills, seizures, cardiomyopathy, and visual and hearing impairment. Some patients manifest lactic acidosis and metabolic acidosis. te=The disease is caused by variants affecting the gene represented in this entry. Belongs to the short-chain dehydrogenases/reductases (SDR) family. tRNA binding RNA binding 3-hydroxyacyl-CoA dehydrogenase activity protein binding cytoplasm mitochondrion mitochondrial matrix plasma membrane lipid metabolic process mitochondrion organization tRNA processing cholate 7-alpha-dehydrogenase activity branched-chain amino acid catabolic process oxidoreductase activity testosterone dehydrogenase [NAD(P)] activity mitochondrial ribonuclease P complex dihydrotestosterone 17-beta-dehydrogenase activity 3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity protein homotetramerization oxidation-reduction process mitochondrial tRNA methylation mitochondrial tRNA processing mitochondrial tRNA 5'-end processing mitochondrial tRNA 3'-end processing uc004dsl.1 uc004dsl.2 uc004dsl.3 
ENST00000168712.3 FGF4 ENST00000168712.3 Homo sapiens fibroblast growth factor 4 (FGF4), mRNA. (from RefSeq NM_002007) B7U994 ENST00000168712.1 ENST00000168712.2 FGF4 FGF4_HUMAN HST HSTF1 KS3 NM_002007 P08620 uc001opg.1 uc001opg.2 uc001opg.3 The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified by its oncogenic transforming activity. This gene and FGF3, another oncogenic growth factor, are located closely on chromosome 11. Co-amplification of both genes was found in various kinds of human tumors. Studies on the mouse homolog suggested a function in bone morphogenesis and limb development through the sonic hedgehog (SHH) signaling pathway. [provided by RefSeq, Jul 2008]. 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 :: M17446.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1968968, SAMEA2148093 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000168712.3/ ENSP00000168712.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal limb and cardiac valve development during embryogenesis. May play a role in embryonic molar tooth bud development via inducing the expression of MSX1, MSX2 and MSX1-mediated expression of SDC1 in dental mesenchyme cells (By similarity). 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. Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P08620-1; Sequence=Displayed; Name=2; Synonyms=FGF4si; IsoId=P08620-2; Sequence=VSP_053541; [Isoform 2]: Antagonist of isoform 1, shutting down FGF4-induced Erk1/2 phosphorylation. Belongs to the heparin-binding growth factors family. MAPK cascade cartilage condensation positive regulation of protein phosphorylation fibroblast growth factor receptor binding extracellular region signal transduction cell-cell signaling multicellular organism development growth factor activity heparin binding positive regulation of cell proliferation fibroblast growth factor receptor signaling pathway mesenchymal cell proliferation regulation of gene expression positive regulation of gene expression stem cell population maintenance cell differentiation embryonic limb morphogenesis embryonic hindlimb morphogenesis odontogenesis of dentin-containing tooth negative regulation of apoptotic process positive regulation of transcription from RNA polymerase II promoter positive regulation of cell division positive regulation of protein kinase B signaling cranial suture morphogenesis apoptotic process involved in morphogenesis chondroblast differentiation positive regulation of ERK1 and ERK2 cascade cellular response to leukemia inhibitory factor regulation of endothelial cell chemotaxis to fibroblast growth factor uc001opg.1 uc001opg.2 uc001opg.3 
ENST00000168977.7 NMRK2 ENST00000168977.7 Homo sapiens nicotinamide riboside kinase 2 (NMRK2), transcript variant 2, mRNA. (from RefSeq NM_170678) B7ZKR3 ENST00000168977.1 ENST00000168977.2 ENST00000168977.3 ENST00000168977.4 ENST00000168977.5 ENST00000168977.6 ITGB1BP3 NM_170678 NRK2 NRK2_HUMAN Q52M81 Q9NPI5 Q9NZK3 uc002lyz.1 uc002lyz.2 uc002lyz.3 uc002lyz.4 uc002lyz.5 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. 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=; Kinetic parameters: KM=0.19 mM for nicotinamide riboside (with ATP as cosubstrate) ; KM=30 mM for nicotinamide riboside (with GTP as cosubstrate) ; KM=0.11 mM for tiazofurin (with ATP as cosubstrate) ; KM=0.063 mM for nicotinic acid riboside (with ATP as cosubstrate) ; KM=1.3 mM for uridine (with ATP as cosubstrate) ; Cofactor biosynthesis; NAD(+) biosynthesis. Monomer (By similarity). Interacts with ITGB1 alone or when associated with alpha-7, but not with alpha-5. Q9NPI5; Q9Y561: LRP12; NbExp=2; IntAct=EBI-514059, EBI-296693; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NPI5-1; Sequence=Displayed; Name=2; IsoId=Q9NPI5-3; Sequence=VSP_054332; Predominantly expressed in skeletal muscle and, at a much lower level, in the heart (at protein level). No expression in brain, kidney, liver, lung, pancreas nor placenta. Down-regulated during myoblast differentiation. Belongs to the uridine kinase family. NRK subfamily. Sequence=AAF26711.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence=; nucleotide binding protein binding ATP binding nucleoplasm cytosol plasma membrane NAD biosynthetic process kinase activity phosphorylation transferase activity pyridine nucleotide biosynthetic process NAD metabolic process intracellular membrane-bounded organelle negative regulation of myoblast differentiation metal ion binding ribosylnicotinamide kinase activity ribosylnicotinate kinase activity uc002lyz.1 uc002lyz.2 uc002lyz.3 uc002lyz.4 uc002lyz.5 
ENST00000169298.8 ST6GAL1 ENST00000169298.8 Homo sapiens ST6 beta-galactoside alpha-2,6-sialyltransferase 1 (ST6GAL1), transcript variant 1, mRNA. (from RefSeq NM_173216) A8KA14 B2R513 D3DNV3 ENST00000169298.1 ENST00000169298.2 ENST00000169298.3 ENST00000169298.4 ENST00000169298.5 ENST00000169298.6 ENST00000169298.7 NM_173216 P15907 SIAT1 SIAT1_HUMAN uc003frb.1 uc003frb.2 uc003frb.3 uc003frb.4 uc003frb.5 This gene encodes a member of glycosyltransferase family 29. The encoded protein is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The protein, which is normally found in the Golgi but can be proteolytically processed to a soluble form, is involved in the generation of the cell-surface carbohydrate determinants and differentiation antigens HB-6, CD75, and CD76. This gene has been incorrectly referred to as CD75. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]. 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 :: SRR1660807.221866.1, SRR1660805.216305.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000169298.8/ ENSP00000169298.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transfers sialic acid from CMP-sialic acid to galactose- containing acceptor substrates. Reaction=a beta-D-galactoside + CMP-N-acetyl-beta-neuraminate = an N- acetyl-alpha-neuraminyl-(2->6)-beta-D-galactosyl derivative + CMP + H(+); Xref=Rhea:RHEA:52104, ChEBI:CHEBI:15378, ChEBI:CHEBI:28034, ChEBI:CHEBI:57812, ChEBI:CHEBI:60377, ChEBI:CHEBI:136398; EC=2.4.3.1; Evidence=; Inhibited by CTP. Kinetic parameters: KM=530 uM for CMP-NeuAc ; Vmax=1.074 pmol/min/ug enzyme ; Protein modification; protein glycosylation. Monomer and homodimer. Golgi apparatus, Golgi stack membrane ; Single-pass type II membrane protein Secreted. Note=Membrane-bound form in trans cisternae of Golgi. Secreted into the body fluid. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P15907-1; Sequence=Displayed; Name=2; IsoId=P15907-2; Sequence=VSP_056076; The soluble form derives from the membrane form by proteolytic processing. The HB-6, CDW75, and CD76 differentiation antigens are cell- surface carbohydrate determinants generated by this enzyme. N-glycosylated. Belongs to the glycosyltransferase 29 family. Name=Functional Glycomics Gateway - GTase; Note=ST6Gal I; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_628"; Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity protein binding extracellular region Golgi apparatus N-acetylneuraminate metabolic process protein glycosylation humoral immune response sialyltransferase activity membrane integral component of membrane O-glycan processing transferase activity transferase activity, transferring glycosyl groups protein N-linked glycosylation via asparagine Golgi cisterna membrane protein homodimerization activity sialylation uc003frb.1 uc003frb.2 uc003frb.3 uc003frb.4 uc003frb.5 
ENST00000169551.11 TIMM21 ENST00000169551.11 Homo sapiens translocase of inner mitochondrial membrane 21 (TIMM21), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_014177) C18orf55 ENST00000169551.1 ENST00000169551.10 ENST00000169551.2 ENST00000169551.3 ENST00000169551.4 ENST00000169551.5 ENST00000169551.6 ENST00000169551.7 ENST00000169551.8 ENST00000169551.9 HSPC154 NM_014177 Q9BVV7 Q9P010 TIM21 TIM21_HUMAN uc010dqr.1 uc010dqr.2 uc010dqr.3 Participates in the translocation of transit peptide- containing proteins across the mitochondrial inner membrane. Also required for assembly of mitochondrial respiratory chain complex I and complex IV as component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex. Probably shuttles between the presequence translocase and respiratory-chain assembly intermediates in a process that promotes incorporation of early nuclear-encoded subunits into these complexes. Component of the TIM23 complex. 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 (Probable) (PubMed:23260140). Interacts with COA3 and MT-CO1/COX1 (PubMed:26321642). Q9BVV7; P00395: MT-CO1; NbExp=3; IntAct=EBI-6570759, EBI-2117234; Q9BVV7; O14925: TIMM23; NbExp=3; IntAct=EBI-6570759, EBI-1047996; Q9BVV7; Q9UHD9: UBQLN2; NbExp=3; IntAct=EBI-6570759, EBI-947187; Mitochondrion membrane ; Single-pass membrane protein Belongs to the TIM21 family. molecular_function protein binding mitochondrion mitochondrial inner membrane presequence translocase complex protein transport membrane integral component of membrane protein import into mitochondrial matrix mitochondrial membrane mitochondrial respiratory chain complex I assembly mitochondrial respiratory chain complex IV assembly uc010dqr.1 uc010dqr.2 uc010dqr.3 
ENST00000170150.4 BPIFB2 ENST00000170150.4 Homo sapiens BPI fold containing family B member 2 (BPIFB2), mRNA. (from RefSeq NM_025227) BPIB2_HUMAN BPIL1 C20orf184 ENST00000170150.1 ENST00000170150.2 ENST00000170150.3 LPLUNC2 NM_025227 Q6UWN3 Q6ZME0 Q8N4F0 Q8NFQ7 UNQ2489/PRO5776 uc002wyj.1 uc002wyj.2 uc002wyj.3 uc002wyj.4 uc002wyj.5 uc002wyj.6 This gene encodes a member of the lipid transfer/lipopolysaccharide binding protein (LT/LBP) gene family. It is highly expressed in hypertrophic tonsils. This gene and three other members of the LT/LBP gene family form a cluster on the long arm of chromosome 20. [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 :: AK027068.1, AK172819.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA2150585 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000170150.4/ ENSP00000170150.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Secreted Highly expressed in tonsils, especially in hypertrophic tonsils. Detected at very low levels in fetal liver. Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. extracellular region extracellular space endoplasmic reticulum lumen lipid binding antimicrobial humoral response post-translational protein modification cellular protein metabolic process extracellular exosome uc002wyj.1 uc002wyj.2 uc002wyj.3 uc002wyj.4 uc002wyj.5 uc002wyj.6 
ENST00000170168.9 REXO1 ENST00000170168.9 Homo sapiens RNA exonuclease 1 homolog (REXO1), mRNA. (from RefSeq NM_020695) ELOABP1 ENST00000170168.1 ENST00000170168.2 ENST00000170168.3 ENST00000170168.4 ENST00000170168.5 ENST00000170168.6 ENST00000170168.7 ENST00000170168.8 KIAA1138 NM_020695 Q8N1G1 Q9ULT2 REXO1_HUMAN TCEB3BP1 uc002lua.1 uc002lua.2 uc002lua.3 uc002lua.4 uc002lua.5 uc002lua.6 Seems to have no detectable effect on transcription elongation in vitro. Interacts with TCEA2 and ELOA. Nucleus Ubiquitously expressed. Belongs to the REXO1/REXO3 family. Sequence=BAA86452.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; nucleic acid binding nuclease activity exonuclease activity nucleus nucleoplasm nuclear body hydrolase activity nucleic acid phosphodiester bond hydrolysis uc002lua.1 uc002lua.2 uc002lua.3 uc002lua.4 uc002lua.5 uc002lua.6 
ENST00000170447.12 MKRN2 ENST00000170447.12 Homo sapiens makorin ring finger protein 2 (MKRN2), transcript variant 1, mRNA. (from RefSeq NM_014160) A6NIA2 B3KRC5 B4DPR4 ENST00000170447.1 ENST00000170447.10 ENST00000170447.11 ENST00000170447.2 ENST00000170447.3 ENST00000170447.4 ENST00000170447.5 ENST00000170447.6 ENST00000170447.7 ENST00000170447.8 ENST00000170447.9 HSPC070 MKRN2_HUMAN NM_014160 Q8N391 Q96BD4 Q9BUY2 Q9H000 Q9NRY1 RNF62 uc003bxd.1 uc003bxd.2 uc003bxd.3 uc003bxd.4 uc003bxd.5 uc003bxd.6 This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]. E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (By similarity). Promotes the polyubiquitination and proteasome-dependent degradation of RELA/p65, thereby suppressing RELA-mediated NF-kappaB transactivation and negatively regulating inflammatory responses (By similarity). Plays a role in the regulation of spermiation and in male fertility (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 ubiquitination. Interacts with PDLIM2 (via LIM zinc-binding domain) (By similarity). Interacts with RELA (By similarity). Q9H000; Q9NX04: AIRIM; NbExp=3; IntAct=EBI-2341005, EBI-8643161; Q9H000; Q01658: DR1; NbExp=3; IntAct=EBI-2341005, EBI-750300; Q9H000; O00303: EIF3F; NbExp=3; IntAct=EBI-2341005, EBI-711990; Q9H000; Q9Y5Q9: GTF3C3; NbExp=3; IntAct=EBI-2341005, EBI-1054873; Q9H000; P42858: HTT; NbExp=12; IntAct=EBI-2341005, EBI-466029; Q9H000; P63244: RACK1; NbExp=3; IntAct=EBI-2341005, EBI-296739; Q9H000; Q13148: TARDBP; NbExp=6; IntAct=EBI-2341005, EBI-372899; Q9H000; P51668: UBE2D1; NbExp=6; IntAct=EBI-2341005, EBI-743540; Q9H000; Q9Y2X8: UBE2D4; NbExp=6; IntAct=EBI-2341005, EBI-745527; Q9H000; E9KL35; NbExp=3; IntAct=EBI-2341005, EBI-8456500; Q9H000; PRO_0000037311 [P0C6X7]: rep; Xeno; NbExp=2; IntAct=EBI-2341005, EBI-25474079; Q9H000; PRO_0000449621 [P0DTD1]: rep; Xeno; NbExp=4; IntAct=EBI-2341005, EBI-25492388; Cytoplasm Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H000-1; Sequence=Displayed; Name=2; IsoId=Q9H000-2; Sequence=VSP_055275; Expressed in sperm, with significantly reduced expression in sperm of patients with oligoasthenoteratozoospermia (at protein level) (PubMed:28008940). Widely expressed with expression in testis, ovary, small intestine, colon, peripheral blood leukocytes, fetal liver, bone marrow, thymus, lymph node and spleen (PubMed:11597136). Partially overlaps and is antisense to the RAF1 proto- oncogene. RNA binding protein binding biological_process protein ubiquitination transferase activity metal ion binding uc003bxd.1 uc003bxd.2 uc003bxd.3 uc003bxd.4 uc003bxd.5 uc003bxd.6 
ENST00000170564.7 GPATCH1 ENST00000170564.7 Homo sapiens G-patch domain containing 1 (GPATCH1), transcript variant 2, non-coding RNA. (from RefSeq NR_135270) ECGP ENST00000170564.1 ENST00000170564.2 ENST00000170564.3 ENST00000170564.4 ENST00000170564.5 ENST00000170564.6 GPATC1 GPTC1_HUMAN NR_135270 Q8IZV6 Q8N3B7 Q9BRR8 Q9NW94 uc002nug.1 uc002nug.2 uc002nug.3 Belongs to the GPATCH1 family. Sequence=BAA91489.1; Type=Erroneous initiation; Evidence=; Sequence=CAD39124.1; Type=Erroneous initiation; Evidence=; mRNA splicing, via spliceosome nucleic acid binding RNA binding nucleus mRNA processing catalytic step 2 spliceosome uc002nug.1 uc002nug.2 uc002nug.3 
ENST00000171111.10 KEAP1 ENST00000171111.10 Homo sapiens kelch like ECH associated protein 1 (KEAP1), transcript variant 1, mRNA. (from RefSeq NM_203500) B3KPD5 ENST00000171111.1 ENST00000171111.2 ENST00000171111.3 ENST00000171111.4 ENST00000171111.5 ENST00000171111.6 ENST00000171111.7 ENST00000171111.8 ENST00000171111.9 INRF2 KEAP1 KEAP1_HUMAN KIAA0132 KLHL19 NM_203500 Q14145 Q6LEP0 Q8WTX1 Q9BPY9 uc002mor.1 uc002mor.2 uc002mor.3 This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]. Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that regulates the response to oxidative stress by targeting NFE2L2/NRF2 for ubiquitination (PubMed:14585973, PubMed:15379550, PubMed:15572695, PubMed:15983046, PubMed:15601839). KEAP1 acts as a key sensor of oxidative and electrophilic stress: in normal conditions, the BCR(KEAP1) complex mediates ubiquitination and degradation of NFE2L2/NRF2, a transcription factor regulating expression of many cytoprotective genes (PubMed:15601839, PubMed:16006525). In response to oxidative stress, different electrophile metabolites trigger non-enzymatic covalent modifications of highly reactive cysteine residues in KEAP1, leading to inactivate the ubiquitin ligase activity of the BCR(KEAP1) complex, promoting NFE2L2/NRF2 nuclear accumulation and expression of phase II detoxifying enzymes (PubMed:19489739, PubMed:16006525, PubMed:17127771, PubMed:18251510, PubMed:29590092). In response to selective autophagy, KEAP1 is sequestered in inclusion bodies following its interaction with SQSTM1/p62, leading to inactivation of the BCR(KEAP1) complex and activation of NFE2L2/NRF2 (PubMed:20452972). The BCR(KEAP1) complex also mediates ubiquitination of SQSTM1/p62, increasing SQSTM1/p62 sequestering activity and degradation (PubMed:28380357). The BCR(KEAP1) complex also targets BPTF and PGAM5 for ubiquitination and degradation by the proteasome (PubMed:15379550, PubMed:17046835). Ubiquitin ligase activity of the BCR(KEAP1) complex is inhibited by oxidative stress and electrophile metabolites such as sulforaphane (PubMed:15983046, PubMed:17046835, PubMed:29590092, PubMed:30323285). Electrophile metabolites react with reactive cysteine residues in KEAP1 and trigger non-enzymatic covalent modifications of these cysteine residues, leading to inactivate the ubiquitin ligase activity of the BCR(KEAP1) complex (PubMed:19489739, PubMed:17127771, PubMed:18251510, PubMed:29590092, PubMed:30323285). Selective autophagy also inactivates the BCR(KEAP1) complex via interaction between KEAP1 and SQSTM1/p62, which sequesters the complex in inclusion bodies and promotes its degradation (PubMed:20495340, PubMed:20452972). Protein modification; protein ubiquitination. Component of the BCR(KEAP1) E3 ubiquitin ligase complex, at least composed of 2 molecules of CUL3, 2 molecules of KEAP1, and RBX1 (PubMed:15572695, PubMed:15983046, PubMed:15601839, PubMed:17127771, PubMed:18251510, PubMed:24896564). Interacts with NFE2L2/NRF2; the interaction is direct (PubMed:15379550, PubMed:15601839, PubMed:16006525, PubMed:18387606, PubMed:16888629). Forms a ternary complex with NFE2L2/NRF2 and PGAM5 (PubMed:17046835). Interacts with (phosphorylated) SQSTM1/p62; the interaction is direct and inactivates the BCR(KEAP1) complex by sequestering it in inclusion bodies, promoting its degradation (PubMed:20495340, PubMed:20452972). Interacts with NFE2L1 (PubMed:16687406). Interacts with BPTF and PTMA (PubMed:15657435). Interacts with MAP1LC3B (PubMed:24089205). Interacts indirectly with ENC1 (PubMed:19424503). Interacts with SESN1 and SESN2 (PubMed:23274085). Interacts with HSP90AA1 and HSP90AB1 (PubMed:26517842). (Microbial infection) Interacts with ebolavirus protein VP24; this interaction activates transcription factor NFE2L2/NRF2 by blocking its interaction with KEAP1. Q14145; Q5JTC6: AMER1; NbExp=2; IntAct=EBI-751001, EBI-6169747; Q14145; Q49AR9: ANKS1A; NbExp=3; IntAct=EBI-751001, EBI-11954519; Q14145; P45381: ASPA; NbExp=4; IntAct=EBI-751001, EBI-750475; Q14145; O14525-2: ASTN1; NbExp=4; IntAct=EBI-751001, EBI-21977454; Q14145; A9UGY9: ATG5; NbExp=3; IntAct=EBI-751001, EBI-10175276; Q14145; Q9H1Y0: ATG5; NbExp=3; IntAct=EBI-751001, EBI-1047414; Q14145; Q2NKX9: C2orf68; NbExp=3; IntAct=EBI-751001, EBI-11603468; Q14145; Q9BWT7: CARD10; NbExp=3; IntAct=EBI-751001, EBI-3866279; Q14145; Q9NPC3: CCNB1IP1; NbExp=4; IntAct=EBI-751001, EBI-745269; Q14145; P02452: COL1A1; NbExp=3; IntAct=EBI-751001, EBI-982999; Q14145; P02458-1: COL2A1; NbExp=3; IntAct=EBI-751001, EBI-12375799; Q14145; P68400: CSNK2A1; NbExp=3; IntAct=EBI-751001, EBI-347804; Q14145; Q13618: CUL3; NbExp=5; IntAct=EBI-751001, EBI-456129; Q14145; Q9NX09: DDIT4; NbExp=3; IntAct=EBI-751001, EBI-715104; Q14145; Q9NY33: DPP3; NbExp=10; IntAct=EBI-751001, EBI-718333; Q14145; Q96JC9: EAF1; NbExp=3; IntAct=EBI-751001, EBI-769261; Q14145; Q6P6B1: ERICH5; NbExp=3; IntAct=EBI-751001, EBI-11343491; Q14145; P62495: ETF1; NbExp=8; IntAct=EBI-751001, EBI-750990; Q14145; Q6P1L5: FAM117B; NbExp=6; IntAct=EBI-751001, EBI-3893327; Q14145; Q14440: GPErik; NbExp=3; IntAct=EBI-751001, EBI-10232920; Q14145; Q8TDV0: GPR151; NbExp=3; IntAct=EBI-751001, EBI-11955647; Q14145; P28799: GRN; NbExp=3; IntAct=EBI-751001, EBI-747754; Q14145; A0A0C4DFT7: GYPA; NbExp=3; IntAct=EBI-751001, EBI-12044847; Q14145; B8Q183: GYPA; NbExp=4; IntAct=EBI-751001, EBI-10176190; Q14145; P02724: GYPA; NbExp=4; IntAct=EBI-751001, EBI-702665; Q14145; P05362: ICAM1; NbExp=3; IntAct=EBI-751001, EBI-1035358; Q14145; Q9BYX4: IFIH1; NbExp=3; IntAct=EBI-751001, EBI-6115771; Q14145; O14920: IKBKB; NbExp=6; IntAct=EBI-751001, EBI-81266; Q14145; Q4KMZ1: IQCC; NbExp=3; IntAct=EBI-751001, EBI-12206419; Q14145; P05107: ITGB2; NbExp=3; IntAct=EBI-751001, EBI-300173; Q14145; O95198: KLHL2; NbExp=5; IntAct=EBI-751001, EBI-746999; Q14145; Q8N4I8: KLHL3; NbExp=3; IntAct=EBI-751001, EBI-10230467; Q14145; Q9UH77: KLHL3; NbExp=3; IntAct=EBI-751001, EBI-8524663; Q14145; P62310: LSM3; NbExp=6; IntAct=EBI-751001, EBI-348239; Q14145; Q13257: MAD2L1; NbExp=8; IntAct=EBI-751001, EBI-78203; Q14145; O60336: MAPKBP1; NbExp=3; IntAct=EBI-751001, EBI-947402; Q14145; Q9BTE3-2: MCMBP; NbExp=3; IntAct=EBI-751001, EBI-9384556; Q14145; Q14494: NFE2L1; NbExp=28; IntAct=EBI-751001, EBI-2804436; Q14145; Q16236: NFE2L2; NbExp=37; IntAct=EBI-751001, EBI-2007911; Q14145; Q96TA1: NIBAN2; NbExp=9; IntAct=EBI-751001, EBI-2514593; Q14145; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-751001, EBI-741158; Q14145; Q9NZJ9: NUDT4; NbExp=3; IntAct=EBI-751001, EBI-4280066; Q14145; Q9UKX7: NUP50; NbExp=3; IntAct=EBI-751001, EBI-2371082; Q14145; Q8N573-5: OXR1; NbExp=3; IntAct=EBI-751001, EBI-10265887; Q14145; Q86YC2: PALB2; NbExp=5; IntAct=EBI-751001, EBI-1222653; Q14145; Q15149: PLEC; NbExp=3; IntAct=EBI-751001, EBI-297903; Q14145; P54619: PRKAG1; NbExp=6; IntAct=EBI-751001, EBI-1181439; Q14145; P06454-2: PTMA; NbExp=6; IntAct=EBI-751001, EBI-10194874; Q14145; Q6P9E2: RECK; NbExp=6; IntAct=EBI-751001, EBI-10253121; Q14145; Q04206: RELA; NbExp=4; IntAct=EBI-751001, EBI-73886; Q14145; P58004: SESN2; NbExp=3; IntAct=EBI-751001, EBI-3939642; Q14145; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-751001, EBI-358489; Q14145; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-751001, EBI-5235340; Q14145; Q13501: SQSTM1; NbExp=19; IntAct=EBI-751001, EBI-307104; Q14145; Q9UGK3: STAP2; NbExp=3; IntAct=EBI-751001, EBI-1553984; Q14145; Q9P0N9: TBC1D7; NbExp=3; IntAct=EBI-751001, EBI-3258000; Q14145; P54274: TERF1; NbExp=2; IntAct=EBI-751001, EBI-710997; Q14145; Q9Y3Q8: TSC22D4; NbExp=3; IntAct=EBI-751001, EBI-739485; Q14145; Q9BRX9: WDR83; NbExp=7; IntAct=EBI-751001, EBI-7705033; Q14145; O76024: WFS1; NbExp=3; IntAct=EBI-751001, EBI-720609; Q14145; Q9P202: WHRN; NbExp=3; IntAct=EBI-751001, EBI-310886; Q14145; P58317: ZNF121; NbExp=3; IntAct=EBI-751001, EBI-1228269; Q14145; Q9NX65: ZSCAN32; NbExp=3; IntAct=EBI-751001, EBI-739949; Q14145; O88351: Ikbkb; Xeno; NbExp=2; IntAct=EBI-751001, EBI-447960; Q14145; P15314: Irf1; Xeno; NbExp=2; IntAct=EBI-751001, EBI-6115486; Q14145; Q64337: Sqstm1; Xeno; NbExp=2; IntAct=EBI-751001, EBI-645025; Cytoplasm cleus Note=Mainly cytoplasmic (PubMed:15601839). In response to selective autophagy, relocalizes to inclusion bodies following interaction with SQSTM1/p62 (PubMed:20452972). Broadly expressed, with highest levels in skeletal muscle. KEAP1 contains reactive cysteine residues that act as sensors for endogenously produced and exogenously encountered small molecules, which react with sulfhydryl groups and modify the cysteine sensors, leading to impair ability of the BCR(KEAP1) complex to ubiquitinate target proteins. The Kelch repeats mediate interaction with NFE2L2/NRF2, BPTF and PGAM5. Non-enzymatic covalent modifications of reactive cysteines by electrophile metabolites inactivate the BCR(KEAP1) complex (PubMed:17127771, PubMed:18251510, PubMed:29590092, PubMed:30323285). Accumulation of fumarate promotes the formation of cysteine S- succination (S-(2-succinyl)cysteine), leading to inactivate the BCR(KEAP1) complex and promote NFE2L2/NRF2 nuclear accumulation and activation (By similarity). Nitric oxide-dependent 8-Nitro-cGMP formation promotes cysteine guanylation (S-cGMP-cysteine), leading to NFE2L2/NRF2 nuclear accumulation and activation (By similarity). Itaconate, an anti-inflammatory metabolite generated in response to lipopolysaccharide, alkylates cysteines, activating NFE2L2/NRF2 (PubMed:29590092). Methylglyoxal, a reactive metabolite that accumulates when the glycolytic enzyme PGK1 is inhibited, promotes formation of a methylimidazole cross-link between proximal Cys-151 and Arg-135 on another KEAP1 molecule, resulting in an inactive dimer that inactivates the BCR(KEAP1) complex (PubMed:30323285). Degraded via a proteasomal-independent process during selective autophagy: interaction with phosphorylated SQSTM1/p62 sequesters KEAP1 in inclusion bodies, leading to its degradation. Auto-ubiquitinated by the BCR(KEAP1) complex (PubMed:15572695, PubMed:15983046). Quinone-induced oxidative stress, but not sulforaphane, increases its ubiquitination (PubMed:15572695, PubMed:15983046). Ubiquitination and subsequent degradation is most pronounced following prolonged exposure of cells to oxidative stress, particularly in glutathione-deficient cells that are highly susceptible to oxidative stress (PubMed:15572695, PubMed:15983046). Belongs to the KEAP1 family. The mechanism of inactivation of the BCR(KEAP1) complex by covalent modifications of reactive cysteines is unclear. Covalent modifications were initially thought to disrupt interaction between KEAP1 and NFE2L2/NRF2 (By similarity). Recent publications suggest that cysteine modifications disrupt the interaction between KEAP1 and CUL3 without affecting the interaction between KEAP1 and NFE2L2/NRF2 (PubMed:16006525, PubMed:17127771, PubMed:18251510, PubMed:24896564). Sequence=BAA09481.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; in utero embryonic development protein binding nucleus nucleoplasm cytoplasm endoplasmic reticulum microtubule organizing center cytosol actin filament regulation of transcription, DNA-templated transcription factor binding proteasomal ubiquitin-independent protein catabolic process viral process protein ubiquitination protein deubiquitination midbody Cul3-RING ubiquitin ligase complex positive regulation of proteasomal ubiquitin-dependent protein catabolic process macromolecular complex identical protein binding protein homodimerization activity cytoplasmic sequestering of transcription factor negative regulation of sequence-specific DNA binding transcription factor activity post-translational protein modification regulation of epidermal cell differentiation cellular response to interleukin-4 disordered domain specific binding uc002mor.1 uc002mor.2 uc002mor.3 
ENST00000171757.3 P2RY10 ENST00000171757.3 Homo sapiens P2Y receptor family member 10 (P2RY10), transcript variant 1, mRNA. (from RefSeq NM_014499) D3DTE5 ENST00000171757.1 ENST00000171757.2 NM_014499 O00398 P2Y10_HUMAN Q4VBN7 Q86V16 uc004ede.1 uc004ede.2 uc004ede.3 uc004ede.4 uc004ede.5 The protein encoded by this gene belongs to the family of G-protein coupled receptors that are preferentially activated by adenosine and uridine nucleotides. There is a pseudogene for this gene nearby on chromosome X. Multiple alternatively spliced transcripts have been observed. [provided by RefSeq, Apr 2016]. Putative receptor for purines coupled to G-proteins. Cell membrane; Multi-pass membrane protein. Weakly expressed in blood leukocytes. Up-regulated during promyelocytic cell differentiation along the monocytic pathway, but not during granulocytic differentiation. 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 membrane integral component of membrane positive regulation of Rho protein signal transduction G-protein coupled purinergic nucleotide receptor signaling pathway G-protein coupled purinergic nucleotide receptor activity positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway uc004ede.1 uc004ede.2 uc004ede.3 uc004ede.4 uc004ede.5 
ENST00000172229.8 NGFR ENST00000172229.8 Homo sapiens nerve growth factor receptor (NGFR), mRNA. (from RefSeq NM_002507) B2R961 B4E096 ENST00000172229.1 ENST00000172229.2 ENST00000172229.3 ENST00000172229.4 ENST00000172229.5 ENST00000172229.6 ENST00000172229.7 NM_002507 P08138 TNFRSF16 TNR16_HUMAN uc002ioz.1 uc002ioz.2 uc002ioz.3 uc002ioz.4 uc002ioz.5 uc002ioz.6 Nerve growth factor receptor contains an extracellular domain containing four 40-amino acid repeats with 6 cysteine residues at conserved positions followed by a serine/threonine-rich region, a single transmembrane domain, and a 155-amino acid cytoplasmic domain. The cysteine-rich region contains the nerve growth factor binding domain. [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 :: BC050309.1, M14764.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000172229.8/ ENSP00000172229.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Low affinity receptor which can bind to NGF, BDNF, NTF3, and NTF4. Forms a heterodimeric receptor with SORCS2 that binds the precursor forms of NGF, BDNF and NTF3 with high affinity, and has much lower affinity for mature NGF and BDNF (PubMed:24908487). Plays an important role in differentiation and survival of specific neuronal populations during development (By similarity). Can mediate cell survival as well as cell death of neural cells. Plays a role in the inactivation of RHOA (PubMed:26646181). 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 (By similarity). Necessary for the circadian oscillation of the clock genes BMAL1, PER1, PER2 and NR1D1 in the suprachiasmatic nucleus (SCmgetaN) of the brain and in liver and of the genes involved in glucose and lipid metabolism in the liver (PubMed:23785138). Homodimer; disulfide-linked (By similarity). Heterodimer with SORCS2. The extracellular domains of the heterodimer bind NGF (PubMed:22155786, PubMed:24908487). The cytoplasmic region of the heterodimer binds TRIO. NGF binding mediates dissociation of TRIO from the receptor complex (PubMed:22155786). Interacts with RTN4R (PubMed:19052207). Interacts with TRAF2, TRAF4, TRAF6, PTPN13 and RANBP9 (PubMed:10514511, PubMed:9915784, PubMed:10544233, PubMed:12963025). Interacts through TRAF6 with SQSTM1 which bridges NGFR to NTRK1 (PubMed:11244088). Interacts with BEX1 (By similarity). Interacts with BEX3 (By similarity). 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 with NTRK2; may regulate the ligand specificity of the NTRK2 receptor (By similarity). Interacts (via death domain) with RAB31 (By similarity). Interacts with LINGO1 (PubMed:14966521). Interacts with NRADD (By similarity). Interacts with MAGED1; the interaction antagonizes the association NGFR:NTRK1 (By similarity). Interacts (via death domain) with ARHGDIA and RIPK2 (PubMed:26646181). P08138; P05067: APP; NbExp=2; IntAct=EBI-1387782, EBI-77613; P08138; PRO_0000000093 [P05067]: APP; NbExp=2; IntAct=EBI-1387782, EBI-2431589; P08138; P33681: CD80; NbExp=3; IntAct=EBI-1387782, EBI-1031024; P08138; Q96FE5: LINGO1; NbExp=2; IntAct=EBI-1387782, EBI-719955; P08138; P01138: NGF; NbExp=2; IntAct=EBI-1387782, EBI-1028250; P08138; PRO_0000019600 [P01138]: NGF; NbExp=2; IntAct=EBI-1387782, EBI-9249861; P08138; Q9Y467: SALL2; NbExp=3; IntAct=EBI-1387782, EBI-746180; P08138; Q7Z699: SPRED1; NbExp=3; IntAct=EBI-1387782, EBI-5235340; P08138; Q9UNE7: STUB1; NbExp=3; IntAct=EBI-1387782, EBI-357085; P08138; O75509: TNFRSF21; NbExp=4; IntAct=EBI-1387782, EBI-2313231; P08138; P25233: Ndn; Xeno; NbExp=3; IntAct=EBI-1387782, EBI-1801080; P08138; Q9CPR8: Nsmce3; Xeno; NbExp=3; IntAct=EBI-1387782, EBI-5529102; Cell membrane ; Single-pass type I membrane protein Perikaryon Cell projection, growth cone Cell projection, dendritic spine Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P08138-1; Sequence=Displayed; Name=2; IsoId=P08138-2; Sequence=VSP_056850; The death domain mediates interaction with RANBP9 (By similarity). It also mediates interaction with ARHGDIA and RIPK2 (PubMed:26646181). The extracellular domain is responsible for interaction with NTRK1. N- and O-glycosylated. O-linked glycans consist of Gal(1-3)GalNAc core elongated by 1 or 2 NeuNAc. Phosphorylated on serine residues. beta-amyloid binding cellular glucose homeostasis transmembrane signaling receptor activity death receptor activity protein binding calmodulin binding extracellular region nucleoplasm endosome cytosol plasma membrane integral component of plasma membrane 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 cell surface coreceptor activity membrane integral component of membrane Rab GTPase binding cell differentiation growth cone membrane protein intracellular domain proteolysis ubiquitin protein ligase binding circadian regulation of gene expression signaling receptor activity glucose homeostasis cell projection positive regulation of apoptotic process negative regulation of apoptotic process neurotrophin binding negative regulation of cysteine-type endopeptidase activity involved in apoptotic process dendritic spine perikaryon regulation of cysteine-type endopeptidase activity involved in apoptotic process neurotrophin TRK receptor signaling pathway nerve growth factor binding rhythmic process negative regulation of axonogenesis positive regulation of axonogenesis neuron apoptotic process positive regulation of protein localization to nucleus 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 uc002ioz.1 uc002ioz.2 uc002ioz.3 uc002ioz.4 uc002ioz.5 uc002ioz.6 
ENST00000173229.7 NTN1 ENST00000173229.7 Homo sapiens netrin 1 (NTN1), mRNA. (from RefSeq NM_004822) E9KL51 ENST00000173229.1 ENST00000173229.2 ENST00000173229.3 ENST00000173229.4 ENST00000173229.5 ENST00000173229.6 NET1_HUMAN NM_004822 NTN1L O95631 uc002glw.1 uc002glw.2 uc002glw.3 uc002glw.4 uc002glw.5 Netrin is included in a family of laminin-related secreted proteins. The function of this gene has not yet been defined; however, netrin is thought to be involved in axon guidance and cell migration during development. Mutations and loss of expression of netrin suggest that variation in netrin may be involved in cancer development. [provided by RefSeq, Jul 2008]. 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. 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 :: U75586.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348, SAMEA2154665 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000173229.7/ ENSP00000173229.2 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Netrins control guidance of CNS commissural axons and peripheral motor axons. Its association with either DCC or some UNC5 receptors will lead to axon attraction or repulsion, respectively. Binding to UNC5C might cause dissociation of UNC5C from polymerized TUBB3 in microtubules and thereby lead to increased microtubule dynamics and axon repulsion (PubMed:28483977). Involved in dorsal root ganglion axon projection towards the spinal cord (PubMed:28483977). It also serves as a survival factor via its association with its receptors which prevent the initiation of apoptosis. Involved in tumorigenesis by regulating apoptosis (PubMed:15343335). Binds to its receptors; DCC, UNC5A, UNC5B, UNC5C and probably UNC5D (PubMed:9950216). Binds to its receptor; DSCAM (PubMed:19196994). Interacts with APP (By similarity). O95631; PRO_0000000089 [P05067]: APP; NbExp=3; IntAct=EBI-2678626, EBI-20829246; O95631; PRO_0000000092 [P05067]: APP; NbExp=6; IntAct=EBI-2678626, EBI-821758; O95631; P43146: DCC; NbExp=4; IntAct=EBI-2678626, EBI-1222919; O95631; Q8NBI3: DRAXIN; NbExp=3; IntAct=EBI-2678626, EBI-10827752; O95631; Q8IZJ1-2: UNC5B; NbExp=2; IntAct=EBI-2678626, EBI-10832046; Secreted Cytoplasm Note=Mainly secreted. Widely expressed in normal adult tissues with highest levels in heart, small intestine, colon, liver and prostate. Reduced expression in brain tumors and neuroblastomas. Expressed in epididymis (at protein level). Mirror movements 4 (MRMV4) [MIM:618264]: A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. MRMV4 inheritance is autosomal dominant. Note=The disease is caused by variants affecting the gene represented in this entry. neuron migration protein binding extracellular region basement membrane cytoplasm apoptotic process substrate-dependent cell migration, cell extension nuclear migration Ras protein signal transduction axonogenesis axon guidance motor neuron axon guidance positive regulation of cell proliferation animal organ morphogenesis tissue development dendrite development regulation of cell migration negative regulation of axon extension mammary gland development Cdc42 protein signal transduction anterior/posterior axon guidance inner ear morphogenesis positive regulation of axon extension regulation of synapse assembly mammary gland duct morphogenesis chemorepulsion of axon cell-cell adhesion negative regulation of netrin-activated signaling pathway positive regulation of cell motility uc002glw.1 uc002glw.2 uc002glw.3 uc002glw.4 uc002glw.5 
ENST00000173527.6 ISOC1 ENST00000173527.6 Homo sapiens isochorismatase domain containing 1 (ISOC1), mRNA. (from RefSeq NM_016048) CGI-111 ENST00000173527.1 ENST00000173527.2 ENST00000173527.3 ENST00000173527.4 ENST00000173527.5 ISOC1_HUMAN NM_016048 Q7Z770 Q96CN7 uc003kva.1 uc003kva.2 uc003kva.3 uc003kva.4 uc003kva.5 Q96CN7; Q9P1Z2: CALCOCO1; NbExp=3; IntAct=EBI-2805787, EBI-749920; Belongs to the isochorismatase family. Sequence=AAH08367.1; Type=Erroneous initiation; Evidence=; Sequence=AAH14105.2; Type=Erroneous initiation; Evidence=; molecular_function catalytic activity protein binding cytoplasm peroxisome biological_process uc003kva.1 uc003kva.2 uc003kva.3 uc003kva.4 uc003kva.5 
ENST00000173898.12 TRO ENST00000173898.12 Homo sapiens trophinin (TRO), transcript variant 6, mRNA. (from RefSeq NM_001039705) B1AKE9 B1AKF1 ENST00000173898.1 ENST00000173898.10 ENST00000173898.11 ENST00000173898.2 ENST00000173898.3 ENST00000173898.4 ENST00000173898.5 ENST00000173898.6 ENST00000173898.7 ENST00000173898.8 ENST00000173898.9 F5GY27 KIAA1114 MAGED3 NM_001039705 Q12816 Q96SX2 Q9NU89 Q9UPN8 TROP_HUMAN uc004dtq.1 uc004dtq.2 uc004dtq.3 uc004dtq.4 uc004dtq.5 uc004dtq.6 uc004dtq.7 This gene encodes a membrane protein that mediates cell adhesion between trophoblastic cells and the epithelial cells of the endometrium. The encoded protein participates in cell signalling during embryo implantation, and may also be involved in cancer formation. This gene is located near several other closely related genes on chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]. Could be involved with bystin and tastin in a cell adhesion molecule complex that mediates an initial attachment of the blastocyst to uterine epithelial cells at the time of the embryo implantation. Directly responsible for homophilic cell adhesion. Directly binds bystin, and indirectly tastin. Q12816; Q13895: BYSL; NbExp=4; IntAct=EBI-950001, EBI-358049; Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q12816-1; Sequence=Displayed; Name=2; IsoId=Q12816-2; Sequence=VSP_043513, VSP_043514; Name=3; IsoId=Q12816-3; Sequence=VSP_053937; Name=4; IsoId=Q12816-4; Sequence=VSP_053938; Name=5; IsoId=Q12816-5; Sequence=VSP_053938, VSP_043513, VSP_043514; Strong expression at implantation sites. Found in the placenta from the sixth week of pregnancy. Was localized in the cytoplasm of the syncytiotrophoblast in the chorionic villi and in endometrial decidual cells at the uteroplacental interface. After week 10, the level decreased and then disappeared from placental villi. Also found in macrophages. Sequence=AAA79334.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAA83066.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; protein binding cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules embryo implantation intrinsic component of plasma membrane uc004dtq.1 uc004dtq.2 uc004dtq.3 uc004dtq.4 uc004dtq.5 uc004dtq.6 uc004dtq.7 
ENST00000174618.5 MNT ENST00000174618.5 Homo sapiens MAX network transcriptional repressor (MNT), mRNA. (from RefSeq NM_020310) A8K6D1 BHLHD3 D3DTI7 ENST00000174618.1 ENST00000174618.2 ENST00000174618.3 ENST00000174618.4 MNT_HUMAN NM_020310 Q1ED38 Q99583 ROX uc002fur.1 uc002fur.2 uc002fur.3 uc002fur.4 uc002fur.5 The Myc/Max/Mad network comprises a group of transcription factors that co-interact to regulate gene-specific transcriptional activation or repression. This gene encodes a protein member of the Myc/Max/Mad network. This protein has a basic-Helix-Loop-Helix-zipper domain (bHLHzip) with which it binds the canonical DNA sequence CANNTG, known as the E box, following heterodimerization with Max proteins. This protein is likely a transcriptional repressor and an antagonist of Myc-dependent transcriptional activation and cell growth. This protein represses transcription by binding to DNA binding proteins at its N-terminal Sin3-interaction domain. [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 :: BC117563.1, X96401.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000174618.5/ ENSP00000174618.4 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## 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. Q99583; P61244: MAX; NbExp=8; IntAct=EBI-7959025, EBI-751711; Q99583; Q99583: MNT; NbExp=2; IntAct=EBI-7959025, EBI-7959025; Q99583; O43639: NCK2; NbExp=3; IntAct=EBI-7959025, EBI-713635; Q99583; Q60520: Sin3a; Xeno; NbExp=3; IntAct=EBI-7959025, EBI-349034; Nucleus. 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 repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding DNA binding chromatin binding transcription factor activity, sequence-specific DNA binding transcription coactivator activity transcription corepressor activity nucleus nucleoplasm regulation of transcription, DNA-templated transcription from RNA polymerase II promoter multicellular organism development cell aging negative regulation of cell proliferation protein dimerization activity regulation of cell cycle positive regulation of nucleic acid-templated transcription negative regulation of apoptotic signaling pathway uc002fur.1 uc002fur.2 uc002fur.3 uc002fur.4 uc002fur.5 
ENST00000175091.5 LAPTM4A ENST00000175091.5 Homo sapiens lysosomal protein transmembrane 4 alpha (LAPTM4A), mRNA. (from RefSeq NM_014713) D6W522 ENST00000175091.1 ENST00000175091.2 ENST00000175091.3 ENST00000175091.4 LAPTM4A NM_014713 Q6IBP4 Q6IBP4_HUMAN hCG_32086 uc002rdm.1 uc002rdm.2 uc002rdm.3 uc002rdm.4 This gene encodes a protein that has four predicted transmembrane domains. The function of this gene has not yet been determined; however, studies in the mouse homolog suggest a role in the transport of small molecules across endosomal and lysosomal membranes. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: ERR279841.1653.1, BC003158.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142853, SAMEA2149178 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000175091.5/ ENSP00000175091.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## 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 uc002rdm.1 uc002rdm.2 uc002rdm.3 uc002rdm.4 
ENST00000175238.10 ADAM7 ENST00000175238.10 Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. (from RefSeq NM_003817) A8K8X7 ADAM7 ADAM7_HUMAN ENST00000175238.1 ENST00000175238.2 ENST00000175238.3 ENST00000175238.4 ENST00000175238.5 ENST00000175238.6 ENST00000175238.7 ENST00000175238.8 ENST00000175238.9 GP83 NM_003817 O75959 Q6PEJ6 Q9H2U9 uc003xeb.1 uc003xeb.2 uc003xeb.3 uc003xeb.4 This gene encodes a member of the ADAMs family of zinc proteases. These transmembrane proteins play roles in multiple processes including cell signaling, adhesion and migration. The encoded protein lacks protease activity and may play roles in protein-protein interactions and cell adhesion processes including sperm-egg fusion. Mutations in this gene may be involved in the progression of melanoma. [provided by RefSeq, Oct 2011]. ##Evidence-Data-START## Transcript exon combination :: AF215824.1, GQ891358.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA2153427, SAMEA2161674 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000175238.10/ ENSP00000175238.5 RefSeq Select criteria :: based on conservation, expression ##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 (By similarity). Plays a role in sperm motility, flagella morphology and tyrosine phosphorylation during sperm capacitance (By similarity). Plays a role in normal expression levels of HSPA5, ITM2B and ADAM2 in sperm both prior to and post-capacitation (By similarity). This is a non catalytic metalloprotease-like protein (By similarity). Interacts with ITM2B in sperm; the interaction increases following capacitation (By similarity). Interacts with HSPA5 and CANX (By similarity). Membrane ; Single-pass type I membrane protein Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H2U9-1; Sequence=Displayed; Name=2; IsoId=Q9H2U9-2; Sequence=VSP_056602, VSP_056603; Note=Has been found to be frequently mutated in melanoma (PubMed:21618342). ADAM7 mutations may play a role in melanoma progression and metastasis (PubMed:21618342). Expressed in melanoma cells but not in healthy melanocytes (PubMed:21618342). endopeptidase activity metalloendopeptidase activity plasma membrane proteolysis metallopeptidase activity membrane integral component of membrane uc003xeb.1 uc003xeb.2 uc003xeb.3 uc003xeb.4 
ENST00000175756.10 PTPN18 ENST00000175756.10 Homo sapiens protein tyrosine phosphatase non-receptor type 18 (PTPN18), transcript variant 1, mRNA. (from RefSeq NM_014369) B4E1E6 BDP1 ENST00000175756.1 ENST00000175756.2 ENST00000175756.3 ENST00000175756.4 ENST00000175756.5 ENST00000175756.6 ENST00000175756.7 ENST00000175756.8 ENST00000175756.9 NM_014369 PTN18_HUMAN Q53P42 Q99952 uc002trc.1 uc002trc.2 uc002trc.3 uc002trc.4 The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, the mitotic cycle, and oncogenic transformation. This PTP contains a PEST motif, which often serves as a protein-protein interaction domain, and may be related to protein intracellular half-live. This protein can differentially dephosphorylate autophosphorylated tyrosine kinases that are overexpressed in tumor tissues, and it appears to regulate HER2, a member of the epidermal growth factor receptor family of receptor tyrosine kinases. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]. Differentially dephosphorylate autophosphorylated tyrosine kinases which are known to be overexpressed in tumor tissues. 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= Interacts with PSTPIP1. Q99952; Q9Y297: BTRC; NbExp=2; IntAct=EBI-1384210, EBI-307461; Q99952; P04626: ERBB2; NbExp=6; IntAct=EBI-1384210, EBI-641062; Q99952; O43586: PSTPIP1; NbExp=5; IntAct=EBI-1384210, EBI-1050964; Q99952-1; Q9Y297: BTRC; NbExp=2; IntAct=EBI-12739708, EBI-307461; Q99952-1; P04626: ERBB2; NbExp=5; IntAct=EBI-12739708, EBI-641062; Nucleus Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q99952-1; Sequence=Displayed; Name=2; IsoId=Q99952-2; Sequence=VSP_043073; Expressed in brain, colon and several tumor-derived cell lines. Belongs to the protein-tyrosine phosphatase family. Non- receptor class 4 subfamily. blastocyst formation phosphoprotein phosphatase activity protein tyrosine phosphatase activity non-membrane spanning protein tyrosine phosphatase activity protein binding nucleus nucleoplasm cytoplasm cytosol protein dephosphorylation dephosphorylation hydrolase activity phosphatase activity peptidyl-tyrosine dephosphorylation ERBB2 signaling pathway cellular response to cytokine stimulus negative regulation of ERBB signaling pathway uc002trc.1 uc002trc.2 uc002trc.3 uc002trc.4 
ENST00000176183.6 DRD4 ENST00000176183.6 Homo sapiens dopamine receptor D4 (DRD4), mRNA. (from RefSeq NM_000797) B0M0J7 DRD4_HUMAN ENST00000176183.1 ENST00000176183.2 ENST00000176183.3 ENST00000176183.4 ENST00000176183.5 NM_000797 P21917 Q7Z7Q5 Q8NGM5 uc001lqp.1 uc001lqp.2 uc001lqp.3 uc001lqp.4 This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [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 :: EU432112.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2152568, SAMEA2159931 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000176183.6/ ENSP00000176183.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Dopamine receptor responsible for neuronal signaling in the mesolimbic system of the brain, an area of the brain that regulates emotion and complex behavior. Activated by dopamine, but also by epinephrine and norepinephrine, and by numerous synthetic agonists and drugs (PubMed:9003072, PubMed:16423344, PubMed:27659709, PubMed:29051383). Agonist binding triggers signaling via G proteins that inhibit adenylyl cyclase (PubMed:7512953, PubMed:7643093, PubMed:16423344, PubMed:27659709, PubMed:29051383). Modulates the circadian rhythm of contrast sensitivity by regulating the rhythmic expression of NPAS2 in the retinal ganglion cells (By similarity). Signaling in response to agonists such as dopamine, epinephrine and norepinephrine is modulated by Na(+); lower Na(+) levels result in higher receptor activity (in vitro). Forms homo- and heterooligomers with DRD2. D4.7 allele exhibits higher affinity for homodimers compared to DRD2 heterodimers, while alleles D42. and 4.4 have similar affinities for both. The interaction with DRD2 may modulate agonist-induced downstream signaling (PubMed:21184734). Interacts with CLIC6 (By similarity). Interacts with GPRASP1 (PubMed:12142540). May interact with ADORA2A (PubMed:20836733). Interacts with KLHL12 (PubMed:18303015). P21917; P05067: APP; NbExp=6; IntAct=EBI-8592297, EBI-77613; P21917; P21917: DRD4; NbExp=5; IntAct=EBI-8592297, EBI-8592297; P21917; P17677: GAP43; NbExp=3; IntAct=EBI-8592297, EBI-1267511; P21917; P50579: METAP2; NbExp=3; IntAct=EBI-8592297, EBI-2214155; P21917; Q96P71-2: NECAB3; NbExp=3; IntAct=EBI-8592297, EBI-15098952; P21917; P61764: STXBP1; NbExp=3; IntAct=EBI-8592297, EBI-960169; Cell membrane ulti-pass membrane protein Highly expressed in retina. Detected at much lower levels in brain, in amygdala, thalamus, hypothalamus, cerebellum and pituitary. Polyubiquitinated by the BCR(KLHL12) E3 ubiquitin ligase complex: polyubiquitination does not lead to degradation of DRD4 protein. Palmitoylated. Palmitoylation of the C-terminal Cys is important for normal expression at the cell membrane. The number of repeats of 16 amino acids in the third cytoplasmic loop is highly polymorphic and varies among different alleles. Alleles corresponding in size to a 2 (D4.2), 3 (D4.3), 4 (D4.4), 5 (D4.5), 6 (D4.6), 7 (D4.7) and 9 (D4.9) repeats have been described. The sequence shown is that of allele D4.4. The polymorphic repeat sequence has little influence on DRD4-binding profiles and might not be essential for G protein interaction. Belongs to the G-protein coupled receptor 1 family. Sequence=AAL58637.1; Type=Erroneous gene model prediction; Evidence=; activation of MAPK activity dopamine neurotransmitter receptor activity, coupled via Gi/Go behavioral fear response synaptic transmission, dopaminergic response to amphetamine G-protein coupled receptor activity dopamine neurotransmitter receptor activity G-protein coupled serotonin receptor activity protein binding plasma membrane integral component of plasma membrane cellular calcium ion homeostasis signal transduction G-protein coupled receptor signaling pathway G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger adenylate cyclase-inhibiting dopamine receptor signaling pathway dopamine receptor signaling pathway chemical synaptic transmission drug binding adult locomotory behavior potassium channel regulator activity membrane integral component of membrane SH3 domain binding dendrite neurotransmitter receptor activity positive regulation of sodium:proton antiporter activity positive regulation of kinase activity response to histamine social behavior dopamine binding regulation of dopamine metabolic process dopamine metabolic process fear response regulation of circadian rhythm identical protein binding metal ion binding behavioral response to cocaine behavioral response to ethanol rhythmic process arachidonic acid secretion negative regulation of protein secretion epinephrine binding norepinephrine binding positive regulation of dopamine uptake involved in synaptic transmission inhibitory postsynaptic potential postsynapse glutamatergic synapse negative regulation of voltage-gated calcium channel activity uc001lqp.1 uc001lqp.2 uc001lqp.3 uc001lqp.4 
ENST00000176195.4 SCT ENST00000176195.4 Homo sapiens secretin (SCT), mRNA. (from RefSeq NM_021920) ENST00000176195.1 ENST00000176195.2 ENST00000176195.3 NM_021920 P09683 SCT SECR_HUMAN uc001lqo.1 uc001lqo.2 uc001lqo.3 This gene encodes a member of the glucagon family of peptides. The encoded preproprotein is secreted by endocrine S cells in the proximal small intestinal mucosa as a prohormone, then proteolytically processed to generate the mature peptide hormone. The release of this active peptide hormone is stimulated by either fatty acids or acidic pH in the duodenum. This hormone stimulates the secretion of bile and bicarbonate in the duodenum, pancreatic and biliary ducts. [provided by RefSeq, Feb 2016]. CCDS Note: No human mRNA or EST accessions have been deposited in public databases to support this CCDS, but the gene, transcript and protein have been well-characterized in the literature, e.g., PMIDs:2315322, 12160732, 15706223 and 16888198. Secretin proteins in other species also support this CCDS. 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 :: HY019819.1, HY055530.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2142348, SAMEA2144835 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000176195.4/ ENSP00000176195.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Hormone involved in different processes, such as regulation of the pH of the duodenal content, food intake and water homeostasis (PubMed:25332973). Exerts its biological effects by binding to secretin receptor (SCTR), a G-protein coupled receptor expressed in the basolateral domain of several cells (PubMed:25332973). Acts as a key gastrointestinal hormone by regulating the pH of the duodenal content (By similarity). Secreted by S cells of the duodenum in the crypts of Lieberkuehn and regulates the pH of the duodenum by (1) inhibiting the secretion of gastric acid from the parietal cells of the stomach and (2) stimulating the production of bicarbonate (NaHCO(3)) from the ductal cells of the pancreas (By similarity). Production of bicarbonate is essential to neutralize the pH and ensure no damage is done to the small intestine by the gastric acid (By similarity). In addition to regulating the pH of the duodenal content, plays a central role in diet induced thermogenesis: acts as a non-sympathetic brown fat (BAT) activator mediating prandial thermogenesis, which consequentially induces satiation (Probable). Mechanistically, secretin released by the gut after a meal binds to secretin receptor (SCTR) in brown adipocytes, activating brown fat thermogenesis by stimulating lipolysis, which is sensed in the brain and promotes satiation (By similarity). Also able to stimulate lipolysis in white adipocytes (By similarity). Also plays an important role in cellular osmoregulation: released into the systemic circulation in response to hyperosmolality and acts at different levels in the hypothalamus, pituitary and kidney to regulate water homeostasis (By similarity). Also plays a role in the central nervous system, possibly by acting as a neuropeptide hormone: required for hippocampal synaptic function and neural progenitor cells maintenance (By similarity). P09683; O14964: HGS; NbExp=3; IntAct=EBI-12844598, EBI-740220; P09683; P49639: HOXA1; NbExp=3; IntAct=EBI-12844598, EBI-740785; P09683; O14770-4: MEIS2; NbExp=3; IntAct=EBI-12844598, EBI-8025850; P09683; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-12844598, EBI-739895; Secreted Serum secretin levels are increased after single-meal ingestion. Belongs to the glucagon family. Name=Wikipedia; Note=Secretin entry; URL="https://en.wikipedia.org/wiki/Secretin"; G-protein coupled receptor binding diet induced thermogenesis receptor binding hormone activity cellular_component extracellular region extracellular space cell G-protein coupled receptor signaling pathway brain development cellular water homeostasis hippocampus development pancreatic juice secretion response to nutrient levels regulation of appetite positive regulation of cAMP-mediated signaling digestive hormone activity protein N-terminus binding regulation of synaptic plasticity embryonic digestive tract development positive regulation of lipid catabolic process positive regulation of pancreatic juice secretion positive regulation of somatostatin secretion negative regulation of gastrin-induced gastric acid secretion uc001lqo.1 uc001lqo.2 uc001lqo.3 
ENST00000176643.11 ALDH3A2 ENST00000176643.11 Homo sapiens aldehyde dehydrogenase 3 family member A2 (ALDH3A2), transcript variant 2, mRNA. (from RefSeq NM_000382) AL3A2_HUMAN ALDH10 ENST00000176643.1 ENST00000176643.10 ENST00000176643.2 ENST00000176643.3 ENST00000176643.4 ENST00000176643.5 ENST00000176643.6 ENST00000176643.7 ENST00000176643.8 ENST00000176643.9 FALDH NM_000382 P51648 Q6I9T3 Q93011 Q96J37 uc002gwb.1 uc002gwb.2 uc002gwb.3 Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:9133646, PubMed:22633490, PubMed:25047030, PubMed:18035827, PubMed:9662422, PubMed:18182499). Responsible for conversion of the sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid (PubMed:22633490). Reaction=an aldehyde + H2O + NAD(+) = a carboxylate + 2 H(+) + NADH; Xref=Rhea:RHEA:16185, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17478, ChEBI:CHEBI:29067, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.2.1.3; Evidence= Reaction=a fatty aldehyde + H2O + NAD(+) = a fatty acid + 2 H(+) + NADH; Xref=Rhea:RHEA:49832, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28868, ChEBI:CHEBI:35746, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence= Reaction=(2E)-hexadecenal + H2O + NAD(+) = (E)-hexadec-2-enoate + 2 H(+) + NADH; Xref=Rhea:RHEA:36135, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17585, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:72745; Evidence=; Reaction=2 H(+) + hexadecanoate + NADH = H2O + hexadecanal + NAD(+); Xref=Rhea:RHEA:33739, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17600, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence= Reaction=22-oxodocosanoate + H2O + NAD(+) = docosanedioate + 2 H(+) + NADH; Xref=Rhea:RHEA:39015, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:76298, ChEBI:CHEBI:76299; Evidence=; Reaction=2,6,10,14-tetramethylpentadecanal + H2O + NAD(+) = 2,6,10,14- tetramethylpentadecanoate + 2 H(+) + NADH; Xref=Rhea:RHEA:44016, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:49189, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:77268; Evidence=; Reaction=H2O + NAD(+) + octadecanal = 2 H(+) + NADH + octadecanoate; Xref=Rhea:RHEA:44020, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17034, ChEBI:CHEBI:25629, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence= Reaction=dodecanoate + 2 H(+) + NADH = dodecanal + H2O + NAD(+); Xref=Rhea:RHEA:44168, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:18262, ChEBI:CHEBI:27836, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence= Reaction=decanal + H2O + NAD(+) = decanoate + 2 H(+) + NADH; Xref=Rhea:RHEA:44104, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:27689, ChEBI:CHEBI:31457, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence= Reaction=H2O + NAD(+) + tetradecanal = 2 H(+) + NADH + tetradecanoate; Xref=Rhea:RHEA:44172, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30807, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:84067; Evidence= Reaction=H2O + NAD(+) + octanal = 2 H(+) + NADH + octanoate; Xref=Rhea:RHEA:44100, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17935, ChEBI:CHEBI:25646, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence= Reaction=H2O + heptanal + NAD(+) = 2 H(+) + heptanoate + NADH; Xref=Rhea:RHEA:44108, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:32362, ChEBI:CHEBI:34787, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence=; Reaction=(2E,6E)-farnesal + H2O + NAD(+) = (2E,6E)-farnesoate + 2 H(+) + NADH; Xref=Rhea:RHEA:24216, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15894, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:83276; EC=1.2.1.94; Evidence=; Kinetic parameters: KM=50 uM for hexanal ; KM=32 uM for octanal ; KM=23 uM for decanal ; KM=3.8 uM for decanal ; KM=19 uM for dodecanal ; KM=13.6 uM for dodecanal ; KM=23 uM for tetradecanal ; KM=10.3 uM for tetradecanal ; KM=8.3 uM for hexadecanal ; KM=32 uM for hexadecanal ; KM=21 uM for octadecanal ; KM=20 uM for octadecanal ; KM=23 uM for farnesal ; KM=280 uM for NAD ; KM=180 uM for NAD ; KM=8700 uM for NADP ; Vmax=29 umol/min/mg enzyme with hexanal ; Vmax=63 umol/min/mg enzyme with octanal ; Vmax=73 umol/min/mg enzyme with decanal ; Vmax=2.3 umol/min/mg enzyme with decanal ; Vmax=45 umol/min/mg enzyme with dodecanal ; Vmax=2.3 umol/min/mg enzyme with dodecanal ; Vmax=40 umol/min/mg enzyme with hexadecanal ; Vmax=0.9 umol/min/mg enzyme with hexadecanal ; Vmax=46 umol/min/mg enzyme with octadecanal ; Vmax=1.6 umol/min/mg enzyme with octadecanal ; Vmax=42 umol/min/mg enzyme with tetradecanal ; Vmax=0.9 umol/min/mg enzyme with tetradecanal ; Vmax=0.97 umol/min/mg enzyme with farnesal ; Vmax=1.3 umol/min/mg enzyme with NAD ; Note=kcat is 2.18 sec(-1) for decanal as substrate. kcat is 2.23 sec(-1) for dodecanal as substrate. kcat is 0.86 sec(-1) for tetradecanal as substrate. kcat is 0.95 sec(-1) for hexadecanal as substrate. kcat is 1.52 sec(-1) for octadecanal as substrate. kcat is 0.93 sec(-1) for farnesal as substrate. kcat is 1.28 sec(-1) for NAD as substrate. ; pH dependence: Optimum pH is 9.8. Homodimer. Microsome membrane ; Single-pass membrane protein doplasmic reticulum membrane ; Single-pass membrane protein ; Cytoplasmic side Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P51648-1; Sequence=Displayed; Name=2; IsoId=P51648-2; Sequence=VSP_001283; Detected in liver (at protein level). Sjoegren-Larsson syndrome (SLS) [MIM:270200]: An autosomal recessive neurocutaneous disorder characterized by a combination of severe intellectual disability, spastic di- or tetraplegia and congenital ichthyosis. Ichthyosis is usually evident at birth with varying degrees of erythema and scaling, neurologic symptoms appear in the first or second year of life. Most patients have an IQ of less than 60. Additional clinical features include glistening white spots on the retina, seizures, short stature and speech defects. te=The disease is caused by variants affecting the gene represented in this entry. Belongs to the aldehyde dehydrogenase family. fatty acid alpha-oxidation 3-chloroallyl aldehyde dehydrogenase activity aldehyde dehydrogenase (NAD) activity protein binding peroxisome peroxisomal membrane endoplasmic reticulum endoplasmic reticulum membrane cellular aldehyde metabolic process lipid metabolic process fatty acid metabolic process sesquiterpenoid metabolic process central nervous system development peripheral nervous system development epidermis development membrane integral component of membrane oxidoreductase activity oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor sphingolipid biosynthetic process organelle membrane phytol metabolic process protein homodimerization activity intracellular membrane-bounded organelle glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity hexadecanal metabolic process long-chain-alcohol oxidase activity long-chain-aldehyde dehydrogenase activity medium-chain-aldehyde dehydrogenase activity oxidation-reduction process uc002gwb.1 uc002gwb.2 uc002gwb.3 
ENST00000176763.10 STK10 ENST00000176763.10 Homo sapiens serine/threonine kinase 10 (STK10), mRNA. (from RefSeq NM_005990) A6ND35 B2R8F5 B3KMY1 ENST00000176763.1 ENST00000176763.2 ENST00000176763.3 ENST00000176763.4 ENST00000176763.5 ENST00000176763.6 ENST00000176763.7 ENST00000176763.8 ENST00000176763.9 LOK NM_005990 O94804 Q6NSK0 Q9UIW4 STK10_HUMAN uc003mbo.1 uc003mbo.2 uc003mbo.3 This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 pathway. [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 :: SRR1803616.134568.1, BC070077.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000176763.10/ ENSP00000176763.5 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Serine/threonine-protein kinase involved in regulation of lymphocyte migration. Phosphorylates MSN, and possibly PLK1. Involved in regulation of lymphocyte migration by mediating phosphorylation of ERM proteins such as MSN. Acts as a negative regulator of MAP3K1/MEKK1. May also act as a cell cycle regulator by acting as a polo kinase kinase: mediates phosphorylation of PLK1 in vitro; however such data require additional evidences in vivo. 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=; Inhibited by the pyrrole-indolinone inhibitor SU11274 (K00593): intercalates between the ATP-binding Lys-65 and alpha-C glutamate (Glu-81), resulting in a partial disordering of the lysine side chain. Also specifically inhibited by erlotinib. Slightly inhibited by gefitinib. Homodimer; homodimerization is required for activation segment autophosphorylation. O94804; O94804: STK10; NbExp=3; IntAct=EBI-3951541, EBI-3951541; Cell membrane ; Peripheral membrane protein Highly expressed in rapidly proliferating tissues (spleen, placenta, and peripheral blood leukocytes). Also expressed in brain, heart, skeletal muscle, colon, thymus, kidney, liver, small intestine and lung. Autophosphorylates following homodimerization, leading to activation of the protein. Testicular germ cell tumor (TGCT) [MIM:273300]: A common malignancy in males representing 95% of all testicular neoplasms. TGCTs have various pathologic subtypes including: unclassified intratubular germ cell neoplasia, seminoma (including cases with syncytiotrophoblastic cells), spermatocytic seminoma, embryonal carcinoma, yolk sac tumor, choriocarcinoma, and teratoma. Note=The disease may be caused by variants affecting the gene represented in this entry. Inhibition by erlotinib, an orally administered EGFR tyrosine kinase inhibitor used for treatment, enhances STK10-dependent lymphocytic responses, possibly leading to the aggravation of skin inflammation observed upon treatment by erlotinib. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Sequence=BAG51143.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; nucleotide binding protein kinase activity protein serine/threonine kinase activity protein binding ATP binding cytoplasm plasma membrane protein phosphorylation cell cycle membrane kinase activity phosphorylation transferase activity signal transduction by protein phosphorylation activation of protein kinase activity specific granule membrane identical protein binding protein homodimerization activity neutrophil degranulation protein autophosphorylation extracellular exosome lymphocyte aggregation regulation of lymphocyte migration uc003mbo.1 uc003mbo.2 uc003mbo.3 
ENST00000177694.2 TBX21 ENST00000177694.2 Homo sapiens T-box transcription factor 21 (TBX21), mRNA. (from RefSeq NM_013351) ENST00000177694.1 NM_013351 Q9UL17 TBET TBLYM TBX21_HUMAN uc002ilv.1 uc002ilv.2 This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is the human ortholog of mouse Tbx21/Tbet gene. Studies in mouse show that Tbx21 protein is a Th1 cell-specific transcription factor that controls the expression of the hallmark Th1 cytokine, interferon-gamma (IFNG). Expression of the human ortholog also correlates with IFNG expression in Th1 and natural killer cells, suggesting a role for this gene in initiating Th1 lineage development from naive Th precursor cells. [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 :: AF093098.1, BC039739.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000177694.2/ ENSP00000177694.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## 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 (PubMed:10761931). Activates transcription of a set of genes important for Th1 cell function, including those encoding IFN- gamma and the chemokine receptor CXCR3. Induces permissive chromatin accessibilty and CpG methylation in IFNG (PubMed:33296702). 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 (By similarity). 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. 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. 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. 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 (By similarity). Required for the correct development of natural killer (NK) and mucosal-associated invariant T (MAIT) cells (PubMed:33296702). Interacts with RUNX1, RUNX3, ITK, ABL1, RELA, CDK9 and KDM6B. The phosphorylated form (at Thr-303) interacts with NFATC2. Interacts with SMARCA4 in a KDM6B-dependent manner (By similarity). Interacts with CCTN1 (PubMed:27292648). Interacts with USP10 (PubMed:24845384). The phosphorylated form (at Tyr-530) interacts with GATA3 (PubMed:15662016). Q9UL17; Q92793: CREBBP; NbExp=4; IntAct=EBI-3922312, EBI-81215; Q9UL17; Q09472: EP300; NbExp=5; IntAct=EBI-3922312, EBI-447295; Q9UL17; P23771: GATA3; NbExp=6; IntAct=EBI-3922312, EBI-6664760; Q9UL17; P08047: SP1; NbExp=4; IntAct=EBI-3922312, EBI-298336; Nucleus T-cell specific. Phosphorylations at Ser-53, Tyr-77, Ser-225 and Ser-513 are regulated by mTORC1. Phosphorylation at Tyr-530 is essential for its interaction GATA3. Phosphorylation at Tyr-220, Tyr-266 and Tyr-305 enhances its transcriptional activator activity. Phosphorylation at Thr-303 is required for its interaction with NFATC2. Ubiquitinated at Lys-314, 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-303 (By similarity). Deubiquitinated by USP10 leading to its stabilization (PubMed:24845384). Asthma, with nasal polyps and aspirin intolerance (ANPAI) [MIM:208550]: A condition consisting of asthma, aspirin sensitivity and nasal polyposis. Nasal polyposis is due to chronic inflammation of the paranasal sinus mucosa, leading to protrusion of edematous polyps into the nasal cavities. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Immunodeficiency 88 (IMD88) [MIM:619630]: An autosomal recessive disorder characterized by the development of disseminated mycobacterial disease following vaccination with BCG. Clinical features included fever, lymphadenopathy, and cutaneous eruption. Note=The disease is caused by variants affecting the gene represented in this entry. 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 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 multicellular organism development 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 uc002ilv.1 uc002ilv.2 
ENST00000178638.8 CA12 ENST00000178638.8 Homo sapiens carbonic anhydrase 12 (CA12), transcript variant 1, mRNA. (from RefSeq NM_001218) B2RE24 CA12 CAH12_HUMAN ENST00000178638.1 ENST00000178638.2 ENST00000178638.3 ENST00000178638.4 ENST00000178638.5 ENST00000178638.6 ENST00000178638.7 NM_001218 O43570 Q53YE5 Q9BWG2 uc002amc.1 uc002amc.2 uc002amc.3 uc002amc.4 uc002amc.5 Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. This gene product is a type I membrane protein that is highly expressed in normal tissues, such as kidney, colon and pancreas, and has been found to be overexpressed in 10% of clear cell renal carcinomas. Three transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2014]. Reversible hydration of carbon dioxide. Reaction=H(+) + hydrogencarbonate = CO2 + H2O; Xref=Rhea:RHEA:10748, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16526, ChEBI:CHEBI:17544; EC=4.2.1.1; Evidence=; Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence=; Inhibited by coumarins, saccharin, sulfonamide derivatives such as acetazolamide (AZA), benzenesulfonamide and derivatives (4-carboxyethylbenzene-sulfonamide, 4-carboxyethylbenzene- sulfonamide ethyl ester, 4-(acetyl-2-aminoethyl)benzene-sulfonamide, 4- aminoethylbenzene-sulfonamide) and Foscarnet (phosphonoformate trisodium salt). Kinetic parameters: KM=12.0 mM for CO(2) Homodimer. Membrane; Single-pass type I membrane protein. Cell membrane Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43570-1; Sequence=Displayed; Name=2; IsoId=O43570-2; Sequence=VSP_000772; Highly expressed in colon, kidney, prostate, intestine and activated lymphocytes. Expressed at much higher levels in the renal cell cancers than in surrounding normal kidney tissue. Moderately expressed in pancreas, ovary and testis. Expressed in sweat glands and bronchiolar epithelium (PubMed:26911677). Hyperchlorhidrosis, isolated (HYCHL) [MIM:143860]: An autosomal recessive disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat. te=The disease is caused by variants affecting the gene represented in this entry. Belongs to the alpha-carbonic anhydrase family. carbonate dehydratase activity plasma membrane zinc ion binding bicarbonate transport membrane integral component of membrane lyase activity metal ion binding chloride ion homeostasis uc002amc.1 uc002amc.2 uc002amc.3 uc002amc.4 uc002amc.5 
ENST00000178640.10 MAP2K5 ENST00000178640.10 Homo sapiens mitogen-activated protein kinase kinase 5 (MAP2K5), transcript variant 1, mRNA. (from RefSeq NM_145160) B4DE43 ENST00000178640.1 ENST00000178640.2 ENST00000178640.3 ENST00000178640.4 ENST00000178640.5 ENST00000178640.6 ENST00000178640.7 ENST00000178640.8 ENST00000178640.9 MEK5 MKK5 MP2K5_HUMAN NM_145160 PRKMK5 Q13163 Q92961 Q92962 uc002aqu.1 uc002aqu.2 uc002aqu.3 uc002aqu.4 uc002aqu.5 The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]. Acts as a scaffold for the formation of a ternary MAP3K2/MAP3K3-MAP3K5-MAPK7 signaling complex. Activation of this pathway appears to play a critical role in protecting cells from stress-induced apoptosis, neuronal survival and cardiac development and 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=2.7.12.2; 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; Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Interacts with PARD6A, MAP3K3 and MAPK7. Forms a complex with SQSTM1 and PRKCZ or PRKCI (By similarity). (Microbial infection) Interacts with Yersinia YopJ. Q13163; Q3SXR2: C3orf36; NbExp=3; IntAct=EBI-307294, EBI-18036948; Q13163; Q9H596: DUSP21; NbExp=3; IntAct=EBI-307294, EBI-7357329; Q13163; P62993: GRB2; NbExp=2; IntAct=EBI-307294, EBI-401755; Q13163; Q96NT3-2: GUCD1; NbExp=3; IntAct=EBI-307294, EBI-11978177; Q13163; P08238: HSP90AB1; NbExp=4; IntAct=EBI-307294, EBI-352572; Q13163; Q8N448: LNX2; NbExp=3; IntAct=EBI-307294, EBI-2340947; Q13163; Q9Y2U5: MAP3K2; NbExp=6; IntAct=EBI-307294, EBI-357393; Q13163; Q99759: MAP3K3; NbExp=4; IntAct=EBI-307294, EBI-307281; Q13163; Q13164: MAPK7; NbExp=7; IntAct=EBI-307294, EBI-1213983; Q13163; Q99471: PFDN5; NbExp=3; IntAct=EBI-307294, EBI-357275; Q13163; Q13501: SQSTM1; NbExp=5; IntAct=EBI-307294, EBI-307104; Q13163; Q9BUY5: ZNF426; NbExp=3; IntAct=EBI-307294, EBI-743265; Q13163; Q6ZNG0: ZNF620; NbExp=3; IntAct=EBI-307294, EBI-4395669; Event=Alternative splicing; Named isoforms=4; Name=B; IsoId=Q13163-1; Sequence=Displayed; Name=A; IsoId=Q13163-2; Sequence=VSP_021825; Name=C; IsoId=Q13163-3; Sequence=VSP_021825, VSP_021826; Name=4; IsoId=Q13163-4; Sequence=VSP_043333; Expressed in many adult tissues. Abundant in heart and skeletal muscle. Binds MAP3K2/MAP3K3 and MAPK7 via non-overlapping residues of the PB1 domain. This domain also mediates interactions with SQSTM1 and PARD6A (By similarity). Activated by phosphorylation on Ser/Thr by MAP kinase kinase kinases. (Microbial infection) Yersinia YopJ may acetylate Ser/Thr residues, preventing phosphorylation and activation, thus blocking the MAPK signaling pathway. [Isoform C]: Incomplete sequence. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. MAP kinase kinase subfamily. negative regulation of transcription from RNA polymerase II promoter MAPK cascade nucleotide binding activation of MAPK activity protein kinase activity protein serine/threonine kinase activity MAP kinase kinase activity protein tyrosine kinase activity protein binding ATP binding nucleus cytoplasm spindle cytosol protein phosphorylation signal transduction heart development kinase activity phosphorylation transferase activity peptidyl-tyrosine phosphorylation signal transduction by protein phosphorylation positive regulation of cell growth negative regulation of NF-kappaB transcription factor activity activation of protein kinase activity negative regulation of heterotypic cell-cell adhesion negative regulation of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of interleukin-8 biosynthetic process positive regulation of transcription from RNA polymerase II promoter metal ion binding positive regulation of epithelial cell proliferation positive regulation of protein metabolic process negative regulation of response to cytokine stimulus ERK5 cascade cellular response to growth factor stimulus cellular response to laminar fluid shear stress negative regulation of cell migration involved in sprouting angiogenesis negative regulation of chemokine (C-X-C motif) ligand 2 production negative regulation of extrinsic apoptotic signaling pathway in absence of ligand uc002aqu.1 uc002aqu.2 uc002aqu.3 uc002aqu.4 uc002aqu.5 
ENST00000179259.6 TIGAR ENST00000179259.6 Homo sapiens TP53 induced glycolysis regulatory phosphatase (TIGAR), mRNA. (from RefSeq NM_020375) B2R840 C12orf5 ENST00000179259.1 ENST00000179259.2 ENST00000179259.3 ENST00000179259.4 ENST00000179259.5 NM_020375 Q9NQ88 TIGAR TIGAR_HUMAN uc001qmp.1 uc001qmp.2 uc001qmp.3 uc001qmp.4 uc001qmp.5 This gene is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [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 :: BP201817.1, SRR1803614.162694.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000179259.6/ ENSP00000179259.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Fructose-bisphosphatase hydrolyzing fructose-2,6-bisphosphate as well as fructose-1,6-bisphosphate (PubMed:19015259). Acts as a negative regulator of glycolysis by lowering intracellular levels of fructose-2,6-bisphosphate in a p53/TP53-dependent manner, resulting in the pentose phosphate pathway (PPP) activation and NADPH production (PubMed:16839880, PubMed:22887998). Contributes to the generation of reduced glutathione to cause a decrease in intracellular reactive oxygen species (ROS) content, correlating with its ability to protect cells from oxidative or metabolic stress-induced cell death (PubMed:16839880, PubMed:19713938, PubMed:23726973, PubMed:22887998, PubMed:23817040). Plays a role in promoting protection against cell death during hypoxia by decreasing mitochondria ROS levels in a HK2- dependent manner through a mechanism that is independent of its fructose-bisphosphatase activity (PubMed:23185017). In response to cardiac damage stress, mediates p53-induced inhibition of myocyte mitophagy through ROS levels reduction and the subsequent inactivation of BNIP3. Reduced mitophagy results in an enhanced apoptotic myocyte cell death, and exacerbates cardiac damage (By similarity). Plays a role in adult intestinal regeneration; contributes to the growth, proliferation and survival of intestinal crypts following tissue ablation (PubMed:23726973). Plays a neuroprotective role against ischemic brain damage by enhancing PPP flux and preserving mitochondria functions (By similarity). Protects glioma cells from hypoxia- and ROS- induced cell death by inhibiting glycolysis and activating mitochondrial energy metabolism and oxygen consumption in a TKTL1- dependent and p53/TP53-independent manner (PubMed:22887998). Plays a role in cancer cell survival by promoting DNA repair through activating PPP flux in a CDK5-ATM-dependent signaling pathway during hypoxia and/or genome stress-induced DNA damage responses (PubMed:25928429). Involved in intestinal tumor progression (PubMed:23726973). Reaction=beta-D-fructose 2,6-bisphosphate + H2O = beta-D-fructose 6- phosphate + phosphate; Xref=Rhea:RHEA:17289, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57634, ChEBI:CHEBI:58579; EC=3.1.3.46; Evidence=; Interacts with HK2; the interaction increases hexokinase HK2 activity in a hypoxia- and HIF1A-dependent manner, resulting in the regulation of mitochondrial membrane potential, thus increasing NADPH production and decreasing intracellular ROS levels (PubMed:23185017). Q9NQ88; P55212: CASP6; NbExp=3; IntAct=EBI-3920747, EBI-718729; Q9NQ88; O00291: HIP1; NbExp=3; IntAct=EBI-3920747, EBI-473886; Q9NQ88; P52789: HK2; NbExp=3; IntAct=EBI-3920747, EBI-741469; Q9NQ88; P13473-2: LAMP2; NbExp=3; IntAct=EBI-3920747, EBI-21591415; Q9NQ88; Q9Y371: SH3GLB1; NbExp=3; IntAct=EBI-3920747, EBI-2623095; Cytoplasm cleus Mitochondrion Note=Translocated to the mitochondria during hypoxia in a HIF1A-dependent manner (PubMed:23185017). Colocalizes with HK2 in the mitochondria during hypoxia (PubMed:23185017). Translocated to the nucleus during hypoxia and/or genome stress-induced DNA damage responses in cancer cells (PubMed:25928429). Translocation to the mitochondria is enhanced in ischemic cortex after reperfusion and/or during oxygen and glucose deprivation (OGD)/reoxygenation insult in primary neurons (By similarity). Expressed in the brain (PubMed:22887998). Expressed in breast tumors (PubMed:21820150). Expressed in glioblastomas (PubMed:22887998). Up-regulated by p53/TP53 (at protein level) (PubMed:16839880). Rapidly up-regulated by p53/TP53 (PubMed:16140933, PubMed:16839880, PubMed:19713938). Up-regulated in glioma cell line in a p53/TP53-independent manner (PubMed:22887998). Belongs to the phosphoglycerate mutase family. Not expected to have any kinase activity. response to ischemia catalytic activity bisphosphoglycerate 2-phosphatase activity fructose-2,6-bisphosphate 2-phosphatase activity protein binding intracellular nucleus cytoplasm mitochondrion mitochondrial outer membrane cytosol fructose 2,6-bisphosphate metabolic process autophagy apoptotic process cellular response to DNA damage stimulus response to xenobiotic stimulus response to gamma radiation positive regulation of cardiac muscle cell apoptotic process dephosphorylation hydrolase activity fructose 1,6-bisphosphate metabolic process negative regulation of programmed cell death regulation of pentose-phosphate shunt positive regulation of DNA repair negative regulation of glycolytic process intestinal epithelial cell development cellular response to cobalt ion cellular response to hypoxia negative regulation of neuron death negative regulation of macromitophagy regulation of response to DNA damage checkpoint signaling positive regulation of hexokinase activity negative regulation of glucose catabolic process to lactate via pyruvate negative regulation of reactive oxygen species metabolic process uc001qmp.1 uc001qmp.2 uc001qmp.3 uc001qmp.4 uc001qmp.5 
ENST00000180166.6 FGF20 ENST00000180166.6 Homo sapiens fibroblast growth factor 20 (FGF20), mRNA. (from RefSeq NM_019851) B2RPH5 ENST00000180166.1 ENST00000180166.2 ENST00000180166.3 ENST00000180166.4 ENST00000180166.5 FGF20_HUMAN NM_019851 Q9NP95 uc003wxc.1 uc003wxc.2 uc003wxc.3 The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [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 :: SRR3476690.607830.1, AB044277.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145245, SAMEA2151119 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000180166.6/ ENSP00000180166.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Neurotrophic factor that regulates central nervous development and function. Homodimer. Interacts with FGFR2 and FGFR4. Affinity between fibroblast growth factors (FGFs) and their receptors is increased by heparan sulfate glycosaminoglycans that function as coreceptors. Secreted Predominantly expressed in the cerebellum. Renal hypodysplasia/aplasia 2 (RHDA2) [MIM:615721]: A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the heparin-binding growth factors family. It is uncertain whether variants in this gene are associated with Parkinson disease. Some authors mention association with the disease (PubMed:18252210). In contrast, some others do not observe any association (PubMed:19133659). Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fgf20/"; MAPK cascade receptor binding fibroblast growth factor receptor binding extracellular region signal transduction cell-cell signaling growth factor activity positive regulation of cell proliferation fibroblast growth factor receptor signaling pathway regulation of dopamine secretion cell differentiation heparan sulfate proteoglycan binding negative regulation of neuron apoptotic process regulation of neuron differentiation positive regulation of protein kinase B signaling regulation of cardiac muscle cell proliferation inner ear receptor cell differentiation positive regulation of ERK1 and ERK2 cascade receptor-receptor interaction positive regulation of dopaminergic neuron differentiation uc003wxc.1 uc003wxc.2 uc003wxc.3 
ENST00000180173.10 MTMR7 ENST00000180173.10 Homo sapiens myotubularin related protein 7 (MTMR7), mRNA. (from RefSeq NM_004686) A1L4K9 B4DG87 ENST00000180173.1 ENST00000180173.2 ENST00000180173.3 ENST00000180173.4 ENST00000180173.5 ENST00000180173.6 ENST00000180173.7 ENST00000180173.8 ENST00000180173.9 MTMR7_HUMAN NM_004686 Q68DX4 Q9Y216 uc003wxm.1 uc003wxm.2 uc003wxm.3 uc003wxm.4 uc003wxm.5 This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]. ##Evidence-Data-START## Transcript exon combination :: SRR1660805.71939.1, SRR1660803.76648.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1966682, SAMEA1968189 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000180173.10/ ENSP00000180173.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate (PtdIns(3)P) and inositol 1,3- bisphosphate (Ins(1,3)P2). 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=1D-myo-inositol 1,3-bisphosphate + H2O = 1D-myo-inositol 1- phosphate + phosphate; Xref=Rhea:RHEA:57840, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58433, ChEBI:CHEBI:83242; Evidence=; Interaction with MTMR9 increases phosphatase activity. Heterodimer (via C-terminus) with MTMR9 (via coiled coil domain); the interaction enhances MTMR7 catalytic activity (By similarity). Does not homodimerize (By similarity). Interacts with RAB1B (in GDP-bound form) (By similarity). Q9Y216; P51946: CCNH; NbExp=6; IntAct=EBI-10293003, EBI-741406; Q9Y216; Q96QG7: MTMR9; NbExp=14; IntAct=EBI-10293003, EBI-744593; Cytoplasm Endomembrane system ; Peripheral membrane protein ; Cytoplasmic side Note=May partially localize to endosomes and/or the Golgi apparatus. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9Y216-1; Sequence=Displayed; Name=2; IsoId=Q9Y216-2; Sequence=VSP_017000, VSP_017001; Expressed specifically in brain. Belongs to the protein-tyrosine phosphatase family. Non- receptor class myotubularin subfamily. phosphatidylinositol-3-phosphatase activity protein tyrosine phosphatase activity protein binding cytoplasm cytosol protein dephosphorylation phosphatidylinositol biosynthetic process endomembrane system membrane dephosphorylation hydrolase activity phosphatase activity peptidyl-tyrosine dephosphorylation inositol phosphate dephosphorylation phosphatidylinositol dephosphorylation phosphatidylinositol phosphate phosphatase activity uc003wxm.1 uc003wxm.2 uc003wxm.3 uc003wxm.4 uc003wxm.5 
ENST00000181383.10 CPB2 ENST00000181383.10 Homo sapiens carboxypeptidase B2 (CPB2), transcript variant 1, mRNA. (from RefSeq NM_001872) A8K464 CBPB2_HUMAN ENST00000181383.1 ENST00000181383.2 ENST00000181383.3 ENST00000181383.4 ENST00000181383.5 ENST00000181383.6 ENST00000181383.7 ENST00000181383.8 ENST00000181383.9 NM_001872 Q15114 Q5T9K1 Q5T9K2 Q96IY4 Q9P2Y6 uc285kvt.1 uc285kvt.2 Carboxypeptidases are enzymes that hydrolyze C-terminal peptide bonds. The carboxypeptidase family includes metallo-, serine, and cysteine carboxypeptidases. According to their substrate specificity, these enzymes are referred to as carboxypeptidase A (cleaving aliphatic residues) or carboxypeptidase B (cleaving basic amino residues). The protein encoded by this gene is activated by trypsin and acts on carboxypeptidase B substrates. After thrombin activation, the mature protein downregulates fibrinolysis. Polymorphisms have been described for this gene and its promoter region. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]. 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; Evidence=; 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-324. Secreted. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96IY4-1; Sequence=Displayed; Name=2; IsoId=Q96IY4-2; Sequence=VSP_013446, VSP_013447; Plasma; synthesized in the liver. N-glycosylated. N-glycan at Asn-108: Hex5HexNAc4. Belongs to the peptidase M14 family. Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/cpb2/"; 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 regulation of complement activation response to drug fibrinolysis metal ion binding negative regulation of fibrinolysis extracellular exosome cellular response to glucose stimulus liver regeneration negative regulation of hepatocyte proliferation uc285kvt.1 uc285kvt.2 
ENST00000181796.7 FAM107B ENST00000181796.7 Homo sapiens family with sequence similarity 107 member B (FAM107B), transcript variant 2, mRNA. (from RefSeq NM_031453) A8K1P4 C10orf45 D3DRT2 ENST00000181796.1 ENST00000181796.2 ENST00000181796.3 ENST00000181796.4 ENST00000181796.5 ENST00000181796.6 F107B_HUMAN FAM107B NM_031453 Q5T9K7 Q5T9K8 Q6ZSI4 Q9H098 uc001ina.1 uc001ina.2 uc001ina.3 uc001ina.4 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H098-1; Sequence=Displayed; Name=2; IsoId=Q9H098-2; Sequence=VSP_037527; Belongs to the FAM107 family. uc001ina.1 uc001ina.2 uc001ina.3 uc001ina.4 
ENST00000181839.10 CDK13 ENST00000181839.10 Homo sapiens cyclin dependent kinase 13 (CDK13), transcript variant 1, mRNA. (from RefSeq NM_003718) CDC2L CDC2L5 CDK13_HUMAN CHED ENST00000181839.1 ENST00000181839.2 ENST00000181839.3 ENST00000181839.4 ENST00000181839.5 ENST00000181839.6 ENST00000181839.7 ENST00000181839.8 ENST00000181839.9 KIAA1791 NM_003718 Q14004 Q53G78 Q6DKQ9 Q75MH4 Q75MH5 Q96JN4 Q9H4A0 Q9H4A1 Q9UDR4 uc003thh.1 uc003thh.2 uc003thh.3 uc003thh.4 uc003thh.5 uc003thh.6 uc003thh.7 The protein encoded by this gene is a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]. Cyclin-dependent kinase which displays CTD kinase activity and is required for RNA splicing. Has CTD kinase activity by hyperphosphorylating the C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit RPB1, thereby acting as a key regulator of transcription elongation. Required for RNA splicing, probably by phosphorylating SRSF1/SF2. Required during hematopoiesis. In case of infection by HIV-1 virus, interacts with HIV-1 Tat protein acetylated at 'Lys-50' and 'Lys-51', thereby increasing HIV-1 mRNA splicing and promoting the production of the doubly spliced HIV-1 protein Nef. 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=; 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=; (Microbial infection) Interacts with human herpes virus 1 (HHV-1) transcriptional regulator ICP22. Interacts with CCNL1 and CCNL2 (By similarity). Interacts with CCNK. Interacts with C1QBP. (Microbial infection) Interacts with HIV-1 Tat. Q14004; O75909: CCNK; NbExp=7; IntAct=EBI-968626, EBI-739806; Q14004; Q16543: CDC37; NbExp=2; IntAct=EBI-968626, EBI-295634; Q14004-2; Q07021: C1QBP; NbExp=6; IntAct=EBI-6375898, EBI-347528; Nucleus speckle Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q14004-1; Sequence=Displayed; Name=2; IsoId=Q14004-2; Sequence=VSP_013579; Expressed in fetal brain, liver, muscle and in adult brain. Also expressed in neuroblastoma and glioblastoma tumors. Modified_positions=103 ; Note=Edited at about 88%.; Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360]: An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects, facial dysmorphism with hypertelorism, upslanted palpebral fissures, epicanthal folds, ptosis, strabismus, posteriorly rotated ears, thin upper lip, and small mouth. Patients manifest global developmental delay, delayed walking and speech acquisition, and intellectual disability. Some patients have mild microcephaly, a small cerebral cortex, and agenesis of corpus callosum. More variable features include clinodactyly and/or camptodactyly of the fingers, hypotonia, and joint hypermobility. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. CDC2/CDKX subfamily. Sequence=AAA58424.1; Type=Frameshift; Evidence=; Sequence=AAS07490.1; Type=Erroneous gene model prediction; Evidence=; Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cdc2l5/"; nucleotide binding cyclin-dependent protein kinase holoenzyme complex alternative mRNA splicing, via spliceosome nuclear chromatin cyclin K-CDK13 complex RNA binding protein kinase activity protein serine/threonine kinase activity cyclin-dependent protein serine/threonine kinase activity protein binding ATP binding extracellular region extracellular space nucleus nucleoplasm chromosome Golgi apparatus cytosol transcription elongation from RNA polymerase II promoter mRNA processing protein phosphorylation regulation of mitotic nuclear division multicellular organism development cyclin/CDK positive transcription elongation factor complex transcription factor binding positive regulation of cell proliferation RNA polymerase II carboxy-terminal domain kinase activity RNA splicing viral process kinase activity phosphorylation nuclear speck transferase activity protein kinase binding nuclear cyclin-dependent protein kinase holoenzyme complex hemopoiesis cyclin binding positive regulation of transcription elongation from RNA polymerase II promoter neutrophil degranulation transcription regulatory region DNA binding positive regulation of transcription from RNA polymerase II promoter phosphorylation of RNA polymerase II C-terminal domain ficolin-1-rich granule lumen negative regulation of stem cell differentiation uc003thh.1 uc003thh.2 uc003thh.3 uc003thh.4 uc003thh.5 uc003thh.6 uc003thh.7 
ENST00000182290.9 TSPAN32 ENST00000182290.9 Homo sapiens tetraspanin 32 (TSPAN32), mRNA. (from RefSeq NM_139022) ENST00000182290.1 ENST00000182290.2 ENST00000182290.3 ENST00000182290.4 ENST00000182290.5 ENST00000182290.6 ENST00000182290.7 ENST00000182290.8 NM_139022 PHEMX Q96KX4 Q96QS1 Q9HC50 Q9HC51 Q9Y5U1 TSN32_HUMAN TSSC6 uc001lvy.1 uc001lvy.2 uc001lvy.3 This gene, which is a member of the tetraspanin superfamily, is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. This gene is located among several imprinted genes; however, this gene, as well as the tumor-suppressing subchromosomal transferable fragment 4, escapes imprinting. This gene may play a role in malignancies and diseases that involve this region, and it is also involved in hematopoietic cell function. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]. Sequence Note: A downstream start codon is selected for this RefSeq based on better conservation with homologs. The use of an alternative upstream start codon, which is present in primate species, would increase the protein length from 320 aa to 355 aa. The presence of a predicted signal anchor for the shorter, but not the longer, protein suggests that the downstream start codon may be preferentially used. The shorter protein is described in PMID 11718897. 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 :: AY039001.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## CDS uses downstream in-frame AUG :: lack of evidence for use of upstream AUG MANE Ensembl match :: ENST00000182290.9/ ENSP00000182290.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Membrane ; Multi-pass membrane protein Event=Alternative splicing; Named isoforms=5; Comment=Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q96QS1-1; Sequence=Displayed; Name=2; IsoId=Q96QS1-2; Sequence=VSP_003932; Name=3; IsoId=Q96QS1-3; Sequence=VSP_003937, VSP_003938; Name=4; IsoId=Q96QS1-4; Sequence=VSP_003932, VSP_003933, VSP_003934; Name=5; IsoId=Q96QS1-5; Sequence=VSP_003935, VSP_003936; Expressed ubiquitously at low levels. High levels of expression are confined to hematopoietic tissues including peripheral blood leukocytes, thymus and spleen. Expressed from early embryogenesis through to adulthood. [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. [Isoform 5]: 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 tetraspanin (TM4SF) family. molecular_function integral component of plasma membrane cytoskeleton organization integrin-mediated signaling pathway cell-cell signaling blood coagulation hemostasis negative regulation of cell proliferation cell surface membrane integral component of membrane negative regulation of myeloid dendritic cell activation defense response to protozoan regulation of defense response to virus integrin alphaIIb-beta3 complex platelet aggregation uc001lvy.1 uc001lvy.2 uc001lvy.3 
ENST00000182527.4 TRAM2 ENST00000182527.4 Homo sapiens translocation associated membrane protein 2 (TRAM2), mRNA. (from RefSeq NM_012288) A8K6T6 ENST00000182527.1 ENST00000182527.2 ENST00000182527.3 KIAA0057 NM_012288 Q15035 TRAM2_HUMAN uc003paq.1 uc003paq.2 uc003paq.3 uc003paq.4 uc003paq.5 TRAM2 is a component of the translocon, a gated macromolecular channel that controls the posttranslational processing of nascent secretory and membrane proteins at the endoplasmic reticulum (ER) membrane.[supplied by OMIM, Jul 2004]. 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 :: D31762.1, SRR1803614.72826.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000182527.4/ ENSP00000182527.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Necessary for collagen type I synthesis. May couple the activity of the ER Ca(2+) pump SERCA2B with the activity of the translocon. This coupling may increase the local Ca(2+) concentration at the site of collagen synthesis, and a high Ca(2+) concentration may be necessary for the function of molecular chaperones involved in collagen folding. Required for proper insertion of the first transmembrane helix N-terminus of TM4SF20 into the ER lumen, may act as a ceramide sensor for regulated alternative translocation (RAT) (PubMed:27499293). Interacts with SERCA2B and COL1A1. Membrane ; Multi-pass membrane protein Belongs to the TRAM family. Sequence=BAA06540.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; protein binding rough endoplasmic reticulum SRP-dependent cotranslational protein targeting to membrane, translocation protein transport membrane integral component of membrane collagen biosynthetic process protein insertion into ER membrane uc003paq.1 uc003paq.2 uc003paq.3 uc003paq.4 uc003paq.5 
ENST00000183605.10 CLDN18 ENST00000183605.10 Homo sapiens claudin 18 (CLDN18), transcript variant 1, mRNA. (from RefSeq NM_016369) A5PL21 CLD18_HUMAN ENST00000183605.1 ENST00000183605.2 ENST00000183605.3 ENST00000183605.4 ENST00000183605.5 ENST00000183605.6 ENST00000183605.7 ENST00000183605.8 ENST00000183605.9 NM_016369 P56856 Q96PH4 UNQ778/PRO1572 uc003erp.1 uc003erp.2 uc003erp.3 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. This gene is upregulated in patients with ulcerative colitis and highly overexpressed in infiltrating ductal adenocarcinomas. PKC/MAPK/AP-1 (protein kinase C/mitogen-activated protein kinase/activator protein-1) dependent pathway regulates the expression of this gene in gastric cells. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jun 2010]. Involved in alveolar fluid homeostasis via regulation of alveolar epithelial tight junction composition and therefore ion transport and solute permeability, potentially via downstream regulation of the actin cytoskeleton organization and beta-2-adrenergic signaling (By similarity). Required for lung alveolarization and maintenance of the paracellular alveolar epithelial barrier (By similarity). Acts to maintain epithelial progenitor cell proliferation and organ size, via regulation of YAP1 localization away from the nucleus and thereby restriction of YAP1 target gene transcription (By similarity). Acts as a negative regulator of RANKL-induced osteoclast differentiation, potentially via relocation of TJP2/ZO-2 away from the nucleus, subsequently involved in bone resorption in response to calcium deficiency (By similarity). Mediates the osteoprotective effects of estrogen, potentially via acting downstream of estrogen signaling independently of RANKL signaling pathways (By similarity). [Isoform A1]: Involved in the maintenance of homeostasis of the alveolar microenvironment via regulation of pH and subsequent T- cell activation in the alveolar space, is therefore indirectly involved in limiting C. neoformans infection. [Isoform A2]: Required for the formation of the gastric paracellular barrier via its role in tight junction formation, thereby involved in the response to gastric acidification. Interacts with TJP2/ZO-2 (By similarity). Interacts with TJP1/ZO-1 (By similarity). Interacts with YAP1 (phosphorylated); the interaction sequesters YAP1 away from the nucleus and thereby restricts transcription of YAP1 target genes (By similarity). P56856; Q08426: EHHADH; NbExp=3; IntAct=EBI-16354902, EBI-2339219; P56856; Q01453: PMP22; NbExp=3; IntAct=EBI-16354902, EBI-2845982; Cell junction, tight junction Cell membrane ; Multi-pass membrane protein Note=Localizes to tight junctions in epithelial cells. [Isoform A1]: Cell junction, tight junction [Isoform A2]: Cell junction, tight junction Lateral cell membrane Event=Alternative splicing; Named isoforms=2; Name=A1 ; Synonyms=CLDN18.1 ; IsoId=P56856-1; Sequence=Displayed; Name=A2 ; Synonyms=CLDN18.2 ; IsoId=P56856-2; Sequence=VSP_001102; [Isoform A1]: Expression is restricted to the lung. [Isoform A2]: Expression is restricted to the stomach mucosa where it is predominantly observed in the epithelial cells of the pit region and the base of the gastric glands including exocrine and endocrine cells (at protein level). Expressed in the lungs from 23 weeks onwards, expression increases during the third trimester resulting in significantly higher expression at birth. Belongs to the claudin family. structural molecule activity plasma membrane bicellular tight junction membrane integral component of membrane calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules cell junction identical protein binding response to ethanol negative regulation of bone resorption digestive tract development TNFSF11-mediated signaling pathway negative regulation of protein localization to nucleus negative regulation of osteoclast development uc003erp.1 uc003erp.2 uc003erp.3 
ENST00000184266.3 NDUFB4 ENST00000184266.3 Homo sapiens NADH:ubiquinone oxidoreductase subunit B4 (NDUFB4), transcript variant 1, mRNA. (from RefSeq NM_004547) B2RUY3 B9EJC7 ENST00000184266.1 ENST00000184266.2 NDUB4_HUMAN NM_004547 O95168 uc003edu.1 uc003edu.2 uc003edu.3 uc003edu.4 uc003edu.5 This gene encodes a non-catalytic subunit of the multisubunit NADH:ubiquinone oxidoreductase, the first enzyme complex in the mitochondrial electron transport chain (complex I). Mammalian complex I is composed of 45 different subunits and transfers electrons from NADH to ubiquinone. [provided by RefSeq, Dec 2009]. 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 Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O95168-1; Sequence=Displayed; Name=2; IsoId=O95168-2; Sequence=VSP_042719; Belongs to the complex I NDUFB4 subunit family. mitochondrion mitochondrial inner membrane mitochondrial respiratory chain complex I mitochondrial electron transport, NADH to ubiquinone response to oxidative stress NADH dehydrogenase (ubiquinone) activity membrane integral component of membrane nuclear membrane mitochondrial respiratory chain complex I assembly oxidation-reduction process respiratory chain uc003edu.1 uc003edu.2 uc003edu.3 uc003edu.4 uc003edu.5 
ENST00000184956.11 HEATR6 ENST00000184956.11 Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA. (from RefSeq NM_022070) ABC1 B3KXP3 ENST00000184956.1 ENST00000184956.10 ENST00000184956.2 ENST00000184956.3 ENST00000184956.4 ENST00000184956.5 ENST00000184956.6 ENST00000184956.7 ENST00000184956.8 ENST00000184956.9 HEAT6_HUMAN NM_022070 Q6AI08 Q6MZX1 Q6MZY2 Q8TDM9 Q9H6B3 Q9H6M7 uc002iyk.1 uc002iyk.2 uc002iyk.3 Amplification-dependent oncogene. Amplified in breast cancer cell lines MCF-7 and BT- 474. 17q23 region is one of the most commonly amplified regions in breast cancer and therefore may harbor genes important for breast cancer development and progression. Sequence=AAL83912.1; Type=Erroneous initiation; Evidence=; Sequence=BAB15229.1; Type=Erroneous initiation; Evidence=; Sequence=BAB15348.1; Type=Erroneous initiation; Evidence=; RNA binding uc002iyk.1 uc002iyk.2 uc002iyk.3 
ENST00000185150.9 ERLEC1 ENST00000185150.9 Homo sapiens endoplasmic reticulum lectin 1 (ERLEC1), transcript variant 1, mRNA. (from RefSeq NM_015701) ENST00000185150.1 ENST00000185150.2 ENST00000185150.3 ENST00000185150.4 ENST00000185150.5 ENST00000185150.6 ENST00000185150.7 ENST00000185150.8 HEL117 NM_015701 V9HWD3 V9HWD3_HUMAN uc002rxl.1 uc002rxl.2 uc002rxl.3 uc002rxl.4 uc002rxl.5 This gene encodes a resident endoplasmic reticulum (ER) protein that functions in N-glycan recognition. This protein is thought to be involved in ER-associated degradation via its interaction with the membrane-associated ubiquitin ligase complex. It also functions as a regulator of multiple cellular stress-response pathways in a manner that promotes metastatic cell survival. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 21. [provided by RefSeq, Aug 2011]. Lectin involved in the quality control of the secretory pathway. As a member of the endoplasmic reticulum-associated degradation lumenal (ERAD-L) surveillance system, targets misfolded endoplasmic reticulum lumenal glycoproteins for degradation. Probable lectin that binds selectively to improperly folded lumenal proteins. May function in endoplasmic reticulum quality control and endoplasmic reticulum-associated degradation (ERAD) of both non- glycosylated proteins and glycoproteins. Endoplasmic reticulum lumen Belongs to the OS-9 family. uc002rxl.1 uc002rxl.2 uc002rxl.3 uc002rxl.4 uc002rxl.5 
ENST00000186436.10 TMEM131 ENST00000186436.10 Homo sapiens transmembrane protein 131 (TMEM131), mRNA. (from RefSeq NM_015348) ENST00000186436.1 ENST00000186436.2 ENST00000186436.3 ENST00000186436.4 ENST00000186436.5 ENST00000186436.6 ENST00000186436.7 ENST00000186436.8 ENST00000186436.9 KIAA0257 NM_015348 Q92545 RW1 TM131_HUMAN uc002syh.1 uc002syh.2 uc002syh.3 uc002syh.4 uc002syh.5 uc002syh.6 May play a role in the immune response to viral infection. Membrane ; Multi-pass membrane protein Belongs to the TMEM131 family. molecular_function cellular_component biological_process membrane integral component of membrane uc002syh.1 uc002syh.2 uc002syh.3 uc002syh.4 uc002syh.5 uc002syh.6 
ENST00000187762.7 TMEM38A ENST00000187762.7 Homo sapiens transmembrane protein 38A (TMEM38A), mRNA. (from RefSeq NM_024074) A8K9P9 ENST00000187762.1 ENST00000187762.2 ENST00000187762.3 ENST00000187762.4 ENST00000187762.5 ENST00000187762.6 NM_024074 Q9H6F2 TM38A_HUMAN uc002nes.1 uc002nes.2 uc002nes.3 uc002nes.4 uc002nes.5 Monovalent cation channel required for maintenance of rapid intracellular calcium release. May act as a potassium counter-ion channel that functions in synchronization with calcium release from intracellular stores. Homotrimer; trimerization probably requires binding to phosphatidylinositol 4,5-bisphosphate (PIP2). Sarcoplasmic reticulum membrane ; Multi-pass membrane protein Nucleus membrane Belongs to the TMEM38 family. cation channel activity potassium channel activity nucleus ion transport potassium ion transport endoplasmic reticulum organization regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion release of sequestered calcium ion into cytosol by sarcoplasmic reticulum monovalent inorganic cation transport membrane integral component of membrane sarcoplasmic reticulum nuclear membrane sarcoplasmic reticulum membrane identical protein binding extracellular exosome cellular response to caffeine potassium ion transmembrane transport uc002nes.1 uc002nes.2 uc002nes.3 uc002nes.4 uc002nes.5 
ENST00000187910.7 PSG6 ENST00000187910.7 Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 2, mRNA. (from RefSeq NM_001031850) CGM3 ENST00000187910.1 ENST00000187910.2 ENST00000187910.3 ENST00000187910.4 ENST00000187910.5 ENST00000187910.6 NM_001031850 O75244 PSG10 PSG12 PSG6_HUMAN PSGGB Q00889 Q15224 Q15235 Q549K1 uc002ovg.1 uc002ovg.2 uc002ovg.3 uc002ovg.4 This gene is a member of the pregnancy-specific glycoprotein (PSG) gene family. The PSG genes are a subgroup of the carcinoembryonic antigen (CEA) family of immunoglobulin-like genes, and are found in a gene cluster at 19q13.1-q13.2 telomeric to another cluster of CEA-related genes. The PSG genes are expressed by placental trophoblasts and released into the maternal circulation during pregnancy, and are thought to be essential for maintenance of normal pregnancy. The protein encoded by this gene contains the Arg-Gly-Asp tripeptide associated with cellular adhesion and recognition. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jul 2012]. Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q00889-1; Sequence=Displayed; Name=2; IsoId=Q00889-2; Sequence=VSP_039344; PSBG are produced in high quantity during pregnancy. Belongs to the immunoglobulin superfamily. CEA family. molecular_function extracellular region female pregnancy uc002ovg.1 uc002ovg.2 uc002ovg.3 uc002ovg.4 
ENST00000188312.7 ACTR6 ENST00000188312.7 Homo sapiens actin related protein 6 (ACTR6), transcript variant 1, mRNA. (from RefSeq NM_022496) ARP6_HUMAN B3KW37 B4DLG9 CDA12 ENST00000188312.1 ENST00000188312.2 ENST00000188312.3 ENST00000188312.4 ENST00000188312.5 ENST00000188312.6 NM_022496 Q53GH2 Q9BY39 Q9GZN1 Q9H8H6 uc001thb.1 uc001thb.2 uc001thb.3 uc001thb.4 Required for formation and/or maintenance of proper nucleolar structure and function (PubMed:26164235). Plays a dual role in the regulation of ribosomal DNA (rDNA) transcription (By similarity). In the presence of high glucose, maintains active rDNA transcription through H2A.Z deposition and under glucose starvation, is required for the repression of rDNA transcription, and this function may be independent of H2A.Z (By similarity). Component of the chromatin-remodeling SRCAP complex composed of at least SRCAP, DMAP1, RUVBL1, RUVBL2, ACTL6A, YEATS4, ACTR6 and ZNHIT1 (PubMed:15647280, PubMed:20473270). Interacts with CBX1, CBX3 and CBX5 (PubMed:16487625). Q9GZN1; P0C0S5: H2AZ1; NbExp=3; IntAct=EBI-769329, EBI-1199859; Q9GZN1; O43257: ZNHIT1; NbExp=5; IntAct=EBI-769329, EBI-347522; Cytoplasm, cytoskeleton Nucleus Nucleus, nucleolus Note=Colocalizes with HP1 family proteins at pericentric heterochromatin. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9GZN1-1; Sequence=Displayed; Name=2; IsoId=Q9GZN1-2; Sequence=VSP_054637, VSP_054638; Belongs to the actin family. ARP6 subfamily. Swr1 complex protein binding nucleus cytoplasm cytoskeleton chromatin remodeling nucleosome binding histone exchange uc001thb.1 uc001thb.2 uc001thb.3 uc001thb.4 
ENST00000188790.9 FAP ENST00000188790.9 Homo sapiens fibroblast activation protein alpha (FAP), transcript variant 1, mRNA. (from RefSeq NM_004460) ENST00000188790.1 ENST00000188790.2 ENST00000188790.3 ENST00000188790.4 ENST00000188790.5 ENST00000188790.6 ENST00000188790.7 ENST00000188790.8 FAP NM_004460 O00199 Q12884 Q53TP5 Q86Z29 Q99998 Q9UID4 SEPR_HUMAN uc002ucd.1 uc002ucd.2 uc002ucd.3 uc002ucd.4 The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, granulation tissue of healing wounds, and malignant cells of bone and soft tissue sarcomas. This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]. Cell surface glycoprotein serine protease that participates in extracellular matrix degradation and involved in many cellular processes including tissue remodeling, fibrosis, wound healing, inflammation and tumor growth. Both plasma membrane and soluble forms exhibit post-proline cleaving endopeptidase activity, with a marked preference for Ala/Ser-Gly-Pro-Ser/Asn/Ala consensus sequences, on substrate such as alpha-2-antiplasmin SERPINF2 and SPRY2 (PubMed:14751930, PubMed:16223769, PubMed:16480718, PubMed:16410248, PubMed:17381073, PubMed:18095711, PubMed:21288888, PubMed:24371721). Degrade also gelatin, heat-denatured type I collagen, but not native collagen type I and IV, vitronectin, tenascin, laminin, fibronectin, fibrin or casein (PubMed:9065413, PubMed:2172980, PubMed:7923219, PubMed:10347120, PubMed:10455171, PubMed:12376466, PubMed:16223769, PubMed:16651416, PubMed:18095711). Also has dipeptidyl peptidase activity, exhibiting the ability to hydrolyze the prolyl bond two residues from the N-terminus of synthetic dipeptide substrates provided that the penultimate residue is proline, with a preference for Ala-Pro, Ile-Pro, Gly-Pro, Arg-Pro and Pro-Pro (PubMed:10347120, PubMed:10593948, PubMed:16175601, PubMed:16223769, PubMed:16651416, PubMed:16410248, PubMed:17381073, PubMed:21314817, PubMed:24371721, PubMed:24717288). Natural neuropeptide hormones for dipeptidyl peptidase are the neuropeptide Y (NPY), peptide YY (PYY), substance P (TAC1) and brain natriuretic peptide 32 (NPPB) (PubMed:21314817). The plasma membrane form, in association with either DPP4, PLAUR or integrins, is involved in the pericellular proteolysis of the extracellular matrix (ECM), and hence promotes cell adhesion, migration and invasion through the ECM. Plays a role in tissue remodeling during development and wound healing. Participates in the cell invasiveness towards the ECM in malignant melanoma cancers. Enhances tumor growth progression by increasing angiogenesis, collagen fiber degradation and apoptosis and by reducing antitumor response of the immune system. Promotes glioma cell invasion through the brain parenchyma by degrading the proteoglycan brevican. Acts as a tumor suppressor in melanocytic cells through regulation of cell proliferation and survival in a serine protease activity-independent manner. Reaction=Hydrolysis of Pro-|-Xaa >> Ala-|-Xaa in oligopeptides.; EC=3.4.21.26; Evidence= Reaction=Release of an N-terminal dipeptide, Xaa-Yaa-|-Zaa-, from a polypeptide, preferentially when Yaa is Pro, provided Zaa is neither Pro nor hydroxyproline.; EC=3.4.14.5; Evidence= Gelatinase activity is inhibited by serine- protease inhibitors, such as phenylmethylsulfonyl fluoride (PMSF), 4- (2-aminoethyl)-benzenesulfonyl fluoride hydrochloride (AEBSF), 4- amidino phenylsulfonyl fluoride (APSF) and diisopropyl fluorophosphate (DFP), N-ethylmaleimide (NEM) and phenylmethylsulfonyl fluoride (PMSF). Dipeptidyl peptidase activity is inhibited by 2,2'-azino-bis(3- ethylbenzthiazoline-6-sulfonic acid), diisopropylfluorophosphate (DFP). Prolyl endopeptidase activity is inhibited by the boronic acid peptide Ac-Gly-BoroPro, Ac-Gly-Pro-chloromethyl ketone and Thr-Ser-Gly- chloromethyl ketone. Kinetic parameters: KM=0.46 mM for Ala-Pro (Dipeptidyl peptidase activity) ; KM=0.9 mM for Lys-Pro (Dipeptidyl peptidase activity) ; KM=1.15 mM for Gly-Pro (Dipeptidyl peptidase activity) ; KM=0.25 mM for Gly-Pro (Dipeptidyl peptidase activity) ; KM=0.24 mM for Ala-Pro (Dipeptidyl peptidase activity) ; KM=0.10 mM for Ile-Pro (Dipeptidyl peptidase activity) ; KM=0.24 mM for Phe-Pro (Dipeptidyl peptidase activity) ; KM=0.24 mM for Gly-Pro (Dipeptidyl peptidase activity) ; KM=0.33 mM for Ac-Gly-Pro (Prolyl endopeptidase activity) ; KM=1.3 uM for Thr-Ser-Gly-Pro-Asn-Gln (Prolyl endopeptidase activity) ; KM=2.2 uM for Ala-Ser-Gly-Pro-Asn-Gln (Prolyl endopeptidase activity) ; KM=0.7 uM for Thr-Ala-Gly-Pro-Asn-Gln (Prolyl endopeptidase activity) ; KM=1.9 uM for Thr-Ser-Gly-Pro-Ser-Gln (Prolyl endopeptidase activity) ; KM=2.2 uM for Thr-Ser-Gly-Pro-Asn-Ser (Prolyl endopeptidase activity) ; KM=4.3 uM for Ala-Ser-Gly-Pro-Ser-Ser (Prolyl endopeptidase activity) ; KM=0.101 mM for Gly-Pro (FAP form, prolyl endopeptidase activity) ; KM=0.124 mM for Gly-Pro (Antiplasmin-cleaving enzyme FAP soluble form, prolyl endopeptidase activity) ; KM=0.323 mM for Gly-Pro (FAP form, dipeptidyl peptidase activity) ; KM=0.272 mM for Gly-Pro (Antiplasmin-cleaving enzyme FAP soluble form, dipeptidyl peptidase activity) ; KM=0.029 mM for Arg-Gly-Thr-Ser-Gly-Pro-Asn-Gln-Glu-Gln-Glu (FAP form, prolyl endopeptidase activity) ; KM=0.026 mM for Arg-Gly-Thr-Ser-Gly-Pro-Asn-Gln-Glu-Gln-Glu (Antiplasmin-cleaving enzyme FAP soluble form, prolyl endopeptidase activity) ; pH dependence: Optimum pH is 6-8.4 for gelatinase activity. At pH lower than 5 inhibited gelatinase activity. Temperature dependence: Optimum temperature is 37 degrees Celsius for gelatinase activity. Temperatures above 50 degrees Celsius inhibit gelatinase activity. ; Homodimer; homodimerization is required for activity of both plasma membrane and soluble forms. The monomer is inactive. Heterodimer with DPP4. Interacts with PLAUR; the interaction occurs at the cell surface of invadopodia membranes. Interacts with ITGB1. Interacts with ITGA3. Associates with integrin alpha-3/beta-1; the association occurs in a collagen-dependent manner at the cell surface of invadopodia membranes. Q12884; P01275: GCG; NbExp=4; IntAct=EBI-4319803, EBI-7629173; Q12884; P01282: VIP; NbExp=2; IntAct=EBI-4319803, EBI-751454; [Prolyl endopeptidase FAP]: Cell surface ll membrane ingle-pass type II membrane protein Cell projection, lamellipodium membrane ; Single-pass type II membrane protein Cell projection, invadopodium membrane ingle-pass type II membrane protein Cell projection, ruffle membrane ; Single-pass type II membrane protein Membrane ; Single- pass type II membrane protein Note=Localized on cell surface with lamellipodia and invadopodia membranes and on shed vesicles. Colocalized with DPP4 at invadopodia and lamellipodia membranes of migratory activated endothelial cells in collagenous matrix. Colocalized with DPP4 on endothelial cells of capillary-like microvessels but not large vessels within invasive breast ductal carcinoma. Anchored and enriched preferentially by integrin alpha- 3/beta-1 at invadopodia, plasma membrane protrusions that correspond to sites of cell invasion, in a collagen-dependent manner. Localized at plasma and ruffle membranes in a collagen-independent manner. Colocalized with PLAUR preferentially at the cell surface of invadopodia membranes in a cytoskeleton-, integrin- and vitronectin- dependent manner. Concentrated at invadopodia membranes, specialized protrusions of the ventral plasma membrane in a fibrobectin-dependent manner. Colocalizes with extracellular components (ECM), such as collagen fibers and fibronectin. [Antiplasmin-cleaving enzyme FAP, soluble form]: Secreted te=Found in blood plasma and serum. [Isoform 2]: Cytoplasm Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=L, seprase-I ; IsoId=Q12884-1; Sequence=Displayed; Name=2 ; Synonyms=S, Truncated, seprase-s ; IsoId=Q12884-2; Sequence=VSP_005367; Expressed in adipose tissue. Expressed in the dermal fibroblasts in the fetal skin. Expressed in the granulation tissue of healing wounds and on reactive stromal fibroblast in epithelial cancers. Expressed in activated fibroblast-like synoviocytes from inflamed synovial tissues. Expressed in activated hepatic stellate cells (HSC) and myofibroblasts from cirrhotic liver, but not detected in normal liver. Expressed in glioma cells (at protein level). Expressed in glioblastomas and glioma cells. Isoform 1 and isoform 2 are expressed in melanoma, carcinoma and fibroblast cell lines. In fibroblasts at times and sites of tissue remodeling during development, tissue repair and carcinogenesis. Up-regulated upon tumor stem cell differentiation. Up-regulated by transforming growth factor-beta, 12-O-tetradecanoyl phorbol-13-acetate and retinoids. N-glycosylated. The N-terminus may be blocked. [Isoform 1]: Major isoform. [Isoform 2]: Upstream open reading frames ORF(s)- containing region inhibits the translation of its downstream ORF. Belongs to the peptidase S9B family. angiogenesis protease binding endopeptidase activity metalloendopeptidase activity serine-type endopeptidase activity integrin binding protein binding extracellular region extracellular space cytoplasm plasma membrane focal adhesion proteolysis apoptotic process cell adhesion peptidase activity serine-type peptidase activity dipeptidyl-peptidase activity cell surface regulation of collagen catabolic process negative regulation of extracellular matrix disassembly membrane integral component of membrane hydrolase activity lamellipodium cell junction lamellipodium membrane ruffle membrane protein homodimerization activity cell projection endothelial cell migration apical part of cell basal part of cell protein dimerization activity proteolysis involved in cellular protein catabolic process regulation of fibrinolysis negative regulation of cell proliferation involved in contact inhibition positive regulation of cell cycle arrest invadopodium membrane mitotic cell cycle arrest melanocyte proliferation positive regulation of execution phase of apoptosis melanocyte apoptotic process negative regulation of extracellular matrix organization uc002ucd.1 uc002ucd.2 uc002ucd.3 uc002ucd.4 
ENST00000190165.3 DMRT3 ENST00000190165.3 Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA. (from RefSeq NM_021240) DMRT3_HUMAN DMRTA3 ENST00000190165.1 ENST00000190165.2 NM_021240 Q7LA03 Q7LCH8 Q96SC7 Q9NQL9 Q9NRQ9 uc003zgw.1 uc003zgw.2 uc003zgw.3 uc003zgw.4 Probable transcription factor that plays a role in configuring the spinal circuits controlling stride in vertebrates. Involved in neuronal specification within specific subdivision of spinal cord neurons and in the development of a coordinated locomotor network controlling limb movements. May regulate transcription during sexual development (By similarity). May homodimerize. Q9NQL9; Q9ULX6: AKAP8L; NbExp=3; IntAct=EBI-9679045, EBI-357530; Q9NQL9; Q86U10: ASPG; NbExp=3; IntAct=EBI-9679045, EBI-19946665; Q9NQL9; Q86V38: ATN1; NbExp=3; IntAct=EBI-9679045, EBI-11954292; Q9NQL9; P61421: ATP6V0D1; NbExp=3; IntAct=EBI-9679045, EBI-954063; Q9NQL9; O95273: CCNDBP1; NbExp=3; IntAct=EBI-9679045, EBI-748961; Q9NQL9; Q9H5F2: CFAP68; NbExp=3; IntAct=EBI-9679045, EBI-718615; Q9NQL9; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-9679045, EBI-3867333; Q9NQL9; Q13643: FHL3; NbExp=3; IntAct=EBI-9679045, EBI-741101; Q9NQL9; Q5TD97: FHL5; NbExp=3; IntAct=EBI-9679045, EBI-750641; Q9NQL9; O15353: FOXN1; NbExp=3; IntAct=EBI-9679045, EBI-11319000; Q9NQL9; O43559: FRS3; NbExp=3; IntAct=EBI-9679045, EBI-725515; Q9NQL9; Q86YR5-3: GPSM1; NbExp=3; IntAct=EBI-9679045, EBI-10261098; Q9NQL9; P28799: GRN; NbExp=3; IntAct=EBI-9679045, EBI-747754; Q9NQL9; O75031: HSF2BP; NbExp=3; IntAct=EBI-9679045, EBI-7116203; Q9NQL9; Q0VD86: INCA1; NbExp=6; IntAct=EBI-9679045, EBI-6509505; Q9NQL9; O75525: KHDRBS3; NbExp=3; IntAct=EBI-9679045, EBI-722504; Q9NQL9; Q5T749: KPRP; NbExp=5; IntAct=EBI-9679045, EBI-10981970; Q9NQL9; Q15323: KRT31; NbExp=6; IntAct=EBI-9679045, EBI-948001; Q9NQL9; O76011: KRT34; NbExp=3; IntAct=EBI-9679045, EBI-1047093; Q9NQL9; Q92764: KRT35; NbExp=3; IntAct=EBI-9679045, EBI-1058674; Q9NQL9; O76013-2: KRT36; NbExp=3; IntAct=EBI-9679045, EBI-11958506; Q9NQL9; O76015: KRT38; NbExp=3; IntAct=EBI-9679045, EBI-1047263; Q9NQL9; Q6A162: KRT40; NbExp=6; IntAct=EBI-9679045, EBI-10171697; Q9NQL9; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-9679045, EBI-11959885; Q9NQL9; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-9679045, EBI-11749135; Q9NQL9; Q9BYS1: KRTAP1-5; NbExp=3; IntAct=EBI-9679045, EBI-11741292; Q9NQL9; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-9679045, EBI-10172290; Q9NQL9; P60410: KRTAP10-8; NbExp=6; IntAct=EBI-9679045, EBI-10171774; Q9NQL9; P60411: KRTAP10-9; NbExp=6; IntAct=EBI-9679045, EBI-10172052; Q9NQL9; Q3LI72: KRTAP19-5; NbExp=3; IntAct=EBI-9679045, EBI-1048945; Q9NQL9; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-9679045, EBI-14065470; Q9NQL9; Q9BYR8: KRTAP3-1; NbExp=5; IntAct=EBI-9679045, EBI-9996449; Q9NQL9; Q9BYR6: KRTAP3-3; NbExp=3; IntAct=EBI-9679045, EBI-3957694; Q9NQL9; Q6L8G8: KRTAP5-7; NbExp=3; IntAct=EBI-9679045, EBI-11987425; Q9NQL9; P26371: KRTAP5-9; NbExp=3; IntAct=EBI-9679045, EBI-3958099; Q9NQL9; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-9679045, EBI-11962084; Q9NQL9; Q9BYQ4: KRTAP9-2; NbExp=3; IntAct=EBI-9679045, EBI-1044640; Q9NQL9; Q9BYQ3: KRTAP9-3; NbExp=3; IntAct=EBI-9679045, EBI-1043191; Q9NQL9; Q14847-2: LASP1; NbExp=3; IntAct=EBI-9679045, EBI-9088686; Q9NQL9; P25791-3: LMO2; NbExp=3; IntAct=EBI-9679045, EBI-11959475; Q9NQL9; Q99750: MDFI; NbExp=6; IntAct=EBI-9679045, EBI-724076; Q9NQL9; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-9679045, EBI-16439278; Q9NQL9; Q9UJV3-2: MID2; NbExp=6; IntAct=EBI-9679045, EBI-10172526; Q9NQL9; Q5JR59: MTUS2; NbExp=3; IntAct=EBI-9679045, EBI-742948; Q9NQL9; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-9679045, EBI-11522433; Q9NQL9; Q8TDC0: MYOZ3; NbExp=3; IntAct=EBI-9679045, EBI-5662487; Q9NQL9; Q8NI38: NFKBID; NbExp=3; IntAct=EBI-9679045, EBI-10271199; Q9NQL9; P0CG21: NHLRC4; NbExp=3; IntAct=EBI-9679045, EBI-12868744; Q9NQL9; Q7Z3S9: NOTCH2NLA; NbExp=3; IntAct=EBI-9679045, EBI-945833; Q9NQL9; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-9679045, EBI-22310682; Q9NQL9; O43482: OIP5; NbExp=3; IntAct=EBI-9679045, EBI-536879; Q9NQL9; Q99471: PFDN5; NbExp=3; IntAct=EBI-9679045, EBI-357275; Q9NQL9; Q9H8W4: PLEKHF2; NbExp=3; IntAct=EBI-9679045, EBI-742388; Q9NQL9; O15162: PLSCR1; NbExp=3; IntAct=EBI-9679045, EBI-740019; Q9NQL9; Q9GZV8: PRDM14; NbExp=3; IntAct=EBI-9679045, EBI-3957793; Q9NQL9; P86480: PRR20D; NbExp=3; IntAct=EBI-9679045, EBI-12754095; Q9NQL9; P25788: PSMA3; NbExp=3; IntAct=EBI-9679045, EBI-348380; Q9NQL9; P61289: PSME3; NbExp=3; IntAct=EBI-9679045, EBI-355546; Q9NQL9; Q93062: RBPMS; NbExp=3; IntAct=EBI-9679045, EBI-740322; Q9NQL9; Q04864: REL; NbExp=3; IntAct=EBI-9679045, EBI-307352; Q9NQL9; Q04864-2: REL; NbExp=3; IntAct=EBI-9679045, EBI-10829018; Q9NQL9; Q8HWS3: RFX6; NbExp=3; IntAct=EBI-9679045, EBI-746118; Q9NQL9; Q9BVN2: RUSC1; NbExp=3; IntAct=EBI-9679045, EBI-6257312; Q9NQL9; P21673: SAT1; NbExp=6; IntAct=EBI-9679045, EBI-711613; Q9NQL9; Q99932-2: SPAG8; NbExp=3; IntAct=EBI-9679045, EBI-11959123; Q9NQL9; P15884: TCF4; NbExp=3; IntAct=EBI-9679045, EBI-533224; Q9NQL9; Q08117-2: TLE5; NbExp=3; IntAct=EBI-9679045, EBI-11741437; Q9NQL9; Q13077: TRAF1; NbExp=3; IntAct=EBI-9679045, EBI-359224; Q9NQL9; P36406: TRIM23; NbExp=3; IntAct=EBI-9679045, EBI-740098; Q9NQL9; P14373: TRIM27; NbExp=6; IntAct=EBI-9679045, EBI-719493; Q9NQL9; Q15654: TRIP6; NbExp=3; IntAct=EBI-9679045, EBI-742327; Q9NQL9; Q86WV8: TSC1; NbExp=3; IntAct=EBI-9679045, EBI-12806590; Q9NQL9; Q6DKK2: TTC19; NbExp=3; IntAct=EBI-9679045, EBI-948354; Q9NQL9; Q8TF42: UBASH3B; NbExp=3; IntAct=EBI-9679045, EBI-1380492; Q9NQL9; Q70EL1-9: USP54; NbExp=3; IntAct=EBI-9679045, EBI-11975223; Q9NQL9; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-9679045, EBI-12040603; Q9NQL9; P08048: ZFY; NbExp=3; IntAct=EBI-9679045, EBI-12239601; Q9NQL9; Q9H0C1: ZMYND12; NbExp=3; IntAct=EBI-9679045, EBI-12030590; Q9NQL9; Q7Z4V0: ZNF438; NbExp=3; IntAct=EBI-9679045, EBI-11962468; Nucleus Expressed in testis. Expressed in 4 to 5 weeks embryos. DMA domain interacts with ubiquitin. DMRT3 is a marker for a subset of spinal cord neurons (dI6). Belongs to the DMRT family. Name=Protein Spotlight; Note=A gait on the wildside - Issue 154 of November 2013; URL="https://web.expasy.org/spotlight/back_issues/154/"; nuclear chromatin RNA polymerase II transcription factor activity, sequence-specific DNA binding 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 sex differentiation adult walking behavior transmission of nerve impulse ventral spinal cord interneuron specification cell differentiation regulation of odontogenesis of dentin-containing tooth sequence-specific DNA binding male sex differentiation metal ion binding protein heterodimerization activity uc003zgw.1 uc003zgw.2 uc003zgw.3 uc003zgw.4 
ENST00000190611.9 OSBPL6 ENST00000190611.9 Homo sapiens oxysterol binding protein like 6 (OSBPL6), transcript variant 1, mRNA. (from RefSeq NM_032523) B4DTW1 C4AMC0 C4AME4 D3DPF6 D3DPF7 ENST00000190611.1 ENST00000190611.2 ENST00000190611.3 ENST00000190611.4 ENST00000190611.5 ENST00000190611.6 ENST00000190611.7 ENST00000190611.8 NM_032523 ORP6 OSBL6_HUMAN Q4ZG68 Q53T68 Q59H61 Q7Z4Q1 Q86V84 Q8N9T0 Q96SR1 Q9BZF3 uc002ulx.1 uc002ulx.2 uc002ulx.3 uc002ulx.4 uc002ulx.5 This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]. Regulates cellular transport and efflux of cholesterol (PubMed:26941018). Plays a role in phosphatidylinositol-4-phophate (PI4P) turnover at the neuronal membrane (By similarity). Binds via its PH domain PI4P, phosphatidylinositol-4,5-diphosphate, phosphatidylinositol-3,4,5-triphosphate, and phosphatidic acid (By similarity). Weakly binds 25-hydroxycholesterol (PubMed:17428193). Homodimer (By similarity). Interacts with OSBPL3 (By similarity). Q9BZF3; Q9Q2G4: ORF; Xeno; NbExp=3; IntAct=EBI-2372709, EBI-6248094; Q9BZF3-6; O14901: KLF11; NbExp=3; IntAct=EBI-10698423, EBI-948266; Cytoplasm, cytosol doplasmic reticulum membrane eripheral membrane protein Nucleus envelope Cell membrane ; Peripheral membrane protein Endosome membrane ; Peripheral membrane protein Note=Co-localizes with OSBPL3 at contact sites between the plasma membrane and the endoplasmic reticulum. Event=Alternative splicing; Named isoforms=6; Name=1; IsoId=Q9BZF3-1; Sequence=Displayed; Name=2; IsoId=Q9BZF3-2; Sequence=VSP_010013; Name=3; IsoId=Q9BZF3-3; Sequence=VSP_036559, VSP_036561; Name=4; IsoId=Q9BZF3-4; Sequence=VSP_036560; Name=5; IsoId=Q9BZF3-5; Sequence=VSP_036561; Name=6; IsoId=Q9BZF3-6; Sequence=VSP_036560, VSP_010013, VSP_054430, VSP_054431; Expressed in brain and striated muscle (at protein level) (PubMed:14593528). Widely expressed (PubMed:11735225). Expressed in skeletal muscle (PubMed:14593528). Expressed in fetal brain and lung. By acetylated low-density lipoprotein. Belongs to the OSBP family. Sequence=BAB55223.1; Type=Erroneous initiation; Evidence=; Sequence=BAD92135.1; Type=Erroneous initiation; Evidence=; protein binding nucleus nuclear envelope cytoplasm endoplasmic reticulum endoplasmic reticulum membrane cytosol plasma membrane bile acid biosynthetic process lipid transport lipid binding cholesterol binding membrane nuclear membrane sterol binding intracellular membrane-bounded organelle perinuclear endoplasmic reticulum uc002ulx.1 uc002ulx.2 uc002ulx.3 uc002ulx.4 uc002ulx.5 
ENST00000190983.5 CCN5 ENST00000190983.5 Homo sapiens cellular communication network factor 5 (CCN5), transcript variant 3, mRNA. (from RefSeq NM_003881) B2R9N4 CCN5 CCN5_HUMAN CT58 CTGFL E1P612 ENST00000190983.1 ENST00000190983.2 ENST00000190983.3 ENST00000190983.4 NM_003881 O76076 Q6PEG3 UNQ228/PRO261 WISP2 uc002xmp.1 uc002xmp.2 uc002xmp.3 uc002xmp.4 uc002xmp.5 This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like (CT) domain. The encoded protein lacks the CT domain which is implicated in dimerization and heparin binding. It is 72% identical to the mouse protein at the amino acid level. This gene may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Its expression in colon tumors is reduced while the other two WISP members are overexpressed in colon tumors. It is expressed at high levels in bone tissue, and may play an important role in modulating bone turnover. [provided by RefSeq, Jul 2008]. May play an important role in modulating bone turnover. Promotes the adhesion of osteoblast cells and inhibits the binding of fibrinogen to integrin receptors. In addition, inhibits osteocalcin production. O76076; P49639: HOXA1; NbExp=3; IntAct=EBI-2850068, EBI-740785; Secreted Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O76076-1; Sequence=Displayed; Name=2; IsoId=O76076-2; Sequence=VSP_056298, VSP_056299; Expressed in primary osteoblasts, fibroblasts, ovary, testes, and heart. Belongs to the CCN family. Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="https://atlasgeneticsoncology.org/gene/42814/WISP2"; integrin binding insulin-like growth factor binding extracellular region extracellular space nucleus cell adhesion signal transduction cell-cell signaling heparin binding extracellular matrix negative regulation of cell death uc002xmp.1 uc002xmp.2 uc002xmp.3 uc002xmp.4 uc002xmp.5 
ENST00000192314.7 GAL3ST2 ENST00000192314.7 Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA. (from RefSeq NM_022134) ENST00000192314.1 ENST00000192314.2 ENST00000192314.3 ENST00000192314.4 ENST00000192314.5 ENST00000192314.6 G3ST2_HUMAN GP3ST NM_022134 Q17RK0 Q57Z52 Q9H3Q3 uc002wcj.1 uc002wcj.2 uc002wcj.3 This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the hydroxyl at C-3 of nonreducing beta-galactosyl residues, and it can act on both type 1 and type 2 (Galbeta 1-3/1-4GlcNAc-R) oligosaccharides with similar efficiencies, and on core 1 glycans. This enzyme has been implicated in tumor metastasis processes. This gene is different from the GAL3ST3 gene located on chromosome 11, which has also been referred to as GAL3ST2 and encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 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 :: BC117295.1, AB040610.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000192314.7/ ENSP00000192314.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transfers a sulfate group to the hydroxyl group at C3 of non- reducing beta-galactosyl residues. Acts both on type 1 (Gal-beta-1,3- GlcNAc) and type 2 (Gal-beta-1,4-GlcNAc) chains with similar efficiency. Strongly inhibited by Cu(2+) and Zn(2+). pH dependence: Optimum pH is 6.0-6.5.; Protein modification; carbohydrate sulfation. Q9H3Q3; Q5JR59: MTUS2; NbExp=3; IntAct=EBI-10306373, EBI-742948; Golgi apparatus, Golgi stack membrane ; Single-pass type II membrane protein Ubiquitous. Detected in heart, stomach, colon, liver and spleen, in epithelial cells lining the lower to middle layer of the crypts in colonic mucosa, hepatocytes surrounding the central vein of the liver, extravillous cytotrophoblasts in the basal plate of the septum of the placenta, renal tubules of the kidney, and neuronal cells of the cerebral cortex. Belongs to the galactose-3-O-sulfotransferase family. galactosylceramide sulfotransferase activity protein binding Golgi apparatus sulfotransferase activity biological_process glycolipid biosynthetic process membrane integral component of membrane transferase activity Golgi cisterna membrane uc002wcj.1 uc002wcj.2 uc002wcj.3 
ENST00000192788.6 BLTP3A ENST00000192788.6 Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA. (from RefSeq NM_017754) BLT3A_HUMAN BLTP3A C6orf107 ENST00000192788.1 ENST00000192788.2 ENST00000192788.3 ENST00000192788.4 ENST00000192788.5 NM_017754 Q6BDS2 Q9NXE0 UHRF1BP1 uc003oju.1 uc003oju.2 uc003oju.3 uc003oju.4 uc003oju.5 uc003oju.6 Tube-forming lipid transport protein which probably mediates the transfer of lipids between membranes at organelle contact sites (PubMed:35499567). May be involved in the retrograde traffic of vesicle clusters in the endocytic pathway to the Golgi complex (PubMed:35499567). Homodimer (Potential). Interacts with UHRF1. Late endosome Sequence=BAA91074.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA.; Evidence=; protein binding identical protein binding histone deacetylase binding uc003oju.1 uc003oju.2 uc003oju.3 uc003oju.4 uc003oju.5 uc003oju.6 
ENST00000193322.8 OSTM1 ENST00000193322.8 Homo sapiens osteoclastogenesis associated transmembrane protein 1 (OSTM1), mRNA. (from RefSeq NM_014028) E1P5E3 ENST00000193322.1 ENST00000193322.2 ENST00000193322.3 ENST00000193322.4 ENST00000193322.5 ENST00000193322.6 ENST00000193322.7 GL HSPC019 NM_014028 OSTM1_HUMAN Q5R391 Q6PCA7 Q7RTW6 Q86WC4 Q8NC29 Q8TC82 Q9Y2S9 UNQ6098/PRO21201 uc003psd.1 uc003psd.2 uc003psd.3 uc003psd.4 This gene encodes a protein that may be involved in the degradation of G proteins via the ubiquitin-dependent proteasome pathway. The encoded protein binds to members of subfamily A of the regulator of the G-protein signaling (RGS) family through an N-terminal leucine-rich region. This protein also has a central RING finger-like domain and E3 ubiquitin ligase activity. This protein is highly conserved from flies to humans. Defects in this gene may cause the autosomal recessive, infantile malignant form of osteopetrosis. [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 :: SRR1803613.213465.1, SRR1803613.136052.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000193322.8/ ENSP00000193322.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Required for osteoclast and melanocyte maturation and function. Chloride channel 7 are heteromers of alpha (CLCN7) and beta (OSTM1) subunits. Q86WC4; P51798: CLCN7; NbExp=3; IntAct=EBI-11037160, EBI-4402346; Lysosome membrane ; Single-pass type I membrane protein Note=Requires CLCN7 to travel to lysosomes. Undergoes proteolytic cleavage in the luminal domain, the cleaved fragments might be linked by disulfide bonds with the remnant of the protein. Highly N-glycosylated. Osteopetrosis, autosomal recessive 5 (OPTB5) [MIM:259720]: A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms: a severe autosomal recessive form occurring in utero, infancy, or childhood, and a benign autosomal dominant form occurring in adolescence or adulthood. Recessive osteopetrosis commonly manifests in early infancy with macrocephaly, feeding difficulties, evolving blindness and deafness, bone marrow failure, severe anemia, and hepatosplenomegaly. Deafness and blindness are generally thought to represent effects of pressure on nerves. OPTB5 patients manifest primary central nervous system involvement in addition to the classical stigmata of severe bone sclerosis, growth failure, anemia, thrombocytopenia and visual impairment with optic atrophy. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the OSTM1 family. Sequence=AAD27000.1; Type=Frameshift; Evidence=; lysosome lysosomal membrane cytosol membrane integral component of membrane osteoclast differentiation ion transmembrane transport uc003psd.1 uc003psd.2 uc003psd.3 uc003psd.4 
ENST00000193391.8 IMPG2 ENST00000193391.8 Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA. (from RefSeq NM_016247) A8MWT5 ENST00000193391.1 ENST00000193391.2 ENST00000193391.3 ENST00000193391.4 ENST00000193391.5 ENST00000193391.6 ENST00000193391.7 IMPG2_HUMAN IPM200 NM_016247 Q9BZV3 Q9UKD4 Q9UKK5 uc003duq.1 uc003duq.2 uc003duq.3 uc003duq.4 The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 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 :: AB593127.1, AF173155.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000193391.8/ ENSP00000193391.6 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Chondroitin sulfate- and hyaluronan-binding proteoglycan involved in the organization of interphotoreceptor matrix; may participate in the maturation and maintenance of the light-sensitive photoreceptor outer segment. Binds heparin. Photoreceptor outer segment membrane ; Single-pass type I membrane protein Photoreceptor inner segment membrane ; Single-pass type I membrane protein Secreted, extracellular space, extracellular matrix, interphotoreceptor matrix Expressed in the retina (at protein level) (PubMed:10702256, PubMed:29777959). Expressed by photoreceptors of the interphotoreceptor matrix (IPM) surrounding both rods and cones (at protein level) (PubMed:10542133, PubMed:29777959). IPM occupies the subretinal space between the apices of the retinal pigment epithelium and the neural retina (PubMed:10542133). Expressed in the pineal gland (at protein level) (PubMed:10702256). Expressed in the retina 17 weeks post-conception (at protein level) (PubMed:29777959). Expressed in the outer neuroblastic zone and retinal pigment epithelium (at protein level) (PubMed:29777959). Highly glycosylated (N- and O-linked carbohydrates). Retinitis pigmentosa 56 (RP56) [MIM:613581]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. te=The disease is caused by variants affecting the gene represented in this entry. Macular dystrophy, vitelliform, 5 (VMD5) [MIM:616152]: A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD5 features include late-onset moderate visual impairment and preservation of retinal pigment epithelium reflectivity. te=The disease is caused by variants affecting the gene represented in this entry. extracellular matrix structural constituent hyaluronic acid binding visual perception heparin binding membrane integral component of membrane extracellular matrix interphotoreceptor matrix receptor complex uc003duq.1 uc003duq.2 uc003duq.3 uc003duq.4 
ENST00000194130.7 SLC13A1 ENST00000194130.7 Homo sapiens solute carrier family 13 member 1 (SLC13A1), transcript variant 1, mRNA. (from RefSeq NM_022444) ENST00000194130.1 ENST00000194130.2 ENST00000194130.3 ENST00000194130.4 ENST00000194130.5 ENST00000194130.6 NAS1 NASI1 NM_022444 Q9BZW2 Q9H5Z0 S13A1_HUMAN uc003vkm.1 uc003vkm.2 uc003vkm.3 uc003vkm.4 uc003vkm.5 The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]. Sodium:sulfate symporter that mediates sulfate reabsorption in the kidney and small intestine (PubMed:11161786). Can also mediate the transport of selenate and thiosulfate (By similarity). Reaction=3 Na(+)(out) + sulfate(out) = 3 Na(+)(in) + sulfate(in); Xref=Rhea:RHEA:71951, ChEBI:CHEBI:16189, ChEBI:CHEBI:29101; Evidence=; Reaction=3 Na(+)(out) + selenate(out) = 3 Na(+)(in) + selenate(in); Xref=Rhea:RHEA:72079, ChEBI:CHEBI:15075, ChEBI:CHEBI:29101; Evidence=; Reaction=3 Na(+)(out) + thiosulfate(out) = 3 Na(+)(in) + thiosulfate(in); Xref=Rhea:RHEA:72323, ChEBI:CHEBI:29101, ChEBI:CHEBI:33542; Evidence=; Inhibited by thiosulfate, selenate, molybdate, tungstate, citrate and succinate. Kinetic parameters: KM=0.31 mM for sulfate ; KM=23.6 mM for sodium ; Apical cell membrane ; Multi-pass membrane protein Highly expressed in kidney; not detectable in the other tissues tested. Belongs to the SLC13A/DASS transporter (TC 2.A.47) family. NADC subfamily. plasma membrane ion transport sodium ion transport dicarboxylic acid transport secondary active sulfate transmembrane transporter activity sulfate transport citrate transmembrane transporter activity succinate transmembrane transporter activity symporter activity sodium:sulfate symporter activity citrate transport membrane integral component of membrane sodium:dicarboxylate symporter activity transmembrane transporter activity transmembrane transport succinate transmembrane transport sulfate transmembrane transport uc003vkm.1 uc003vkm.2 uc003vkm.3 uc003vkm.4 uc003vkm.5 
ENST00000194152.4 PCDHB4 ENST00000194152.4 Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. (from RefSeq NM_018938) ENST00000194152.1 ENST00000194152.2 ENST00000194152.3 NM_018938 PCDB4_HUMAN Q4V761 Q9Y5E5 uc003lip.1 uc003lip.2 uc003lip.3 uc003lip.4 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: SRR1660809.19460.1, SRR1660805.174070.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000194152.4/ ENSP00000194152.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## 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 calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission nervous system development synapse assembly membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules uc003lip.1 uc003lip.2 uc003lip.3 uc003lip.4 
ENST00000194155.7 PCDHB2 ENST00000194155.7 Homo sapiens protocadherin beta 2 (PCDHB2), mRNA. (from RefSeq NM_018936) ENST00000194155.1 ENST00000194155.2 ENST00000194155.3 ENST00000194155.4 ENST00000194155.5 ENST00000194155.6 NM_018936 PCDB2_HUMAN Q4KMU1 Q9Y5E7 uc003lil.1 uc003lil.2 uc003lil.3 uc003lil.4 uc003lil.5 uc003lil.6 This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript is intronless :: SRR1660805.221139.1, SRR1803615.169890.1 [ECO:0000345] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000194155.7/ ENSP00000194155.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## 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 calcium ion binding plasma membrane integral component of plasma membrane cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules chemical synaptic transmission nervous system development synapse assembly membrane integral component of membrane calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules uc003lil.1 uc003lil.2 uc003lil.3 uc003lil.4 uc003lil.5 uc003lil.6 
ENST00000194214.10 IFT25 ENST00000194214.10 Homo sapiens heat shock protein family B (small) member 11 (HSPB11), transcript variant 17, non-coding RNA. (from RefSeq NR_167995) A6NG57 C1orf41 D3DQ45 ENST00000194214.1 ENST00000194214.2 ENST00000194214.3 ENST00000194214.4 ENST00000194214.5 ENST00000194214.6 ENST00000194214.7 ENST00000194214.8 ENST00000194214.9 HSPB11 HSPC034 IFT25 IFT25_HUMAN NR_167995 Q9Y547 Q9Y684 uc001cwh.1 uc001cwh.2 uc001cwh.3 uc001cwh.4 uc001cwh.5 Component of the IFT complex B required for sonic hedgehog/SHH signaling. May mediate transport of SHH components: required for the export of SMO and PTCH1 receptors out of the cilium and the accumulation of GLI2 at the ciliary tip in response to activation of the SHH pathway, suggesting it is involved in the dynamic transport of SHH signaling molecules within the cilium. Not required for ciliary assembly. 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. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (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. Interacts with IFT27. Interacts with IFT88 (By similarity). Q9Y547; Q9H8Y8: GORASP2; NbExp=3; IntAct=EBI-747101, EBI-739467; Q9Y547; Q9BW83: IFT27; NbExp=20; IntAct=EBI-747101, EBI-747093; Q9Y547; Q9Y6Y8: SEC23IP; NbExp=3; IntAct=EBI-747101, EBI-1767971; Q9Y547; Q13114: TRAF3; NbExp=3; IntAct=EBI-747101, EBI-357631; Cell projection, cilium Detected in placenta. Belongs to the IFT25 family. Was initially classified as a member of the small heat shock family protein. However, it was later shown that it is not the case (PubMed:19921466). Sequence=AAD43011.1; Type=Frameshift; Evidence=; skeletal system development kidney development protein binding centrosome cilium smoothened signaling pathway spermatogenesis heart development protein transport cell differentiation lung development intraciliary transport particle B intraciliary transport involved in cilium assembly intraciliary transport cell projection metal ion binding left/right axis specification ciliary tip cilium assembly uc001cwh.1 uc001cwh.2 uc001cwh.3 uc001cwh.4 uc001cwh.5 
ENST00000194530.8 STRADB ENST00000194530.8 Homo sapiens STE20 related adaptor beta (STRADB), transcript variant 1, mRNA. (from RefSeq NM_018571) ALS2CR2 ENST00000194530.1 ENST00000194530.2 ENST00000194530.3 ENST00000194530.4 ENST00000194530.5 ENST00000194530.6 ENST00000194530.7 ILPIP NM_018571 PRO1038 Q5BKY7 Q9C0K7 Q9P1L0 STRAB_HUMAN uc002uyd.1 uc002uyd.2 uc002uyd.3 uc002uyd.4 uc002uyd.5 uc002uyd.6 This gene encodes a protein that belongs to the serine/threonine protein kinase STE20 subfamily. One of the active site residues in the protein kinase domain of this protein is altered, and it is thus a pseudokinase. This protein is a component of a complex involved in the activation of serine/threonine kinase 11, a master kinase that regulates cell polarity and energy-generating metabolism. This complex regulates the relocation of this kinase from the nucleus to the cytoplasm, and it is essential for G1 cell cycle arrest mediated by this kinase. The protein encoded by this gene can also interact with the X chromosome-linked inhibitor of apoptosis protein, and this interaction enhances the anti-apoptotic activity of this protein via the JNK1 signal transduction pathway. Two pseudogenes, located on chromosomes 1 and 7, have been found for this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]. 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. Interacts with BIRC4/XIAP. These two proteins are likely to coexist in a complex with TAK1, TRAF6, TAB1 and TAB2. Q9C0K7; Q9Y376: CAB39; NbExp=6; IntAct=EBI-306893, EBI-306905; Q9C0K7; Q15831: STK11; NbExp=9; IntAct=EBI-306893, EBI-306838; Nucleus Cytoplasm Event=Alternative splicing; Named isoforms=3; Name=1; Synonyms=ILPIP-alpha; IsoId=Q9C0K7-1; Sequence=Displayed; Name=2; IsoId=Q9C0K7-2; Sequence=VSP_016623, VSP_016624; Name=3; Synonyms=ILPIP-beta; IsoId=Q9C0K7-3; Sequence=VSP_016625; Highly expressed in heart, skeletal muscle, testis, liver and colon. The protein kinase domain is predicted to be catalytically inactive. Belongs to the protein kinase superfamily. STE Ser/Thr protein kinase family. STE20 subfamily. Ser-184 is present instead of the conserved Asp which is expected to be an active site residue. nucleotide binding cell morphogenesis protein serine/threonine kinase activity protein binding ATP binding nucleus cytoplasm cytosol protein export from nucleus cell cycle cell cycle arrest aggresome signal transduction by protein phosphorylation activation of protein kinase activity negative regulation of extrinsic apoptotic signaling pathway in absence of ligand protein kinase activity protein phosphorylation uc002uyd.1 uc002uyd.2 uc002uyd.3 uc002uyd.4 uc002uyd.5 uc002uyd.6 
ENST00000196061.5 PLOD1 ENST00000196061.5 Homo sapiens procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 (PLOD1), transcript variant 1, mRNA. (from RefSeq NM_001316320) B4DR87 ENST00000196061.1 ENST00000196061.2 ENST00000196061.3 ENST00000196061.4 LLH NM_001316320 PLOD PLOD1_HUMAN Q02809 Q96AV9 Q9H132 uc001atm.1 uc001atm.2 uc001atm.3 uc001atm.4 uc001atm.5 Lysyl hydroxylase is a membrane-bound homodimeric protein localized to the cisternae of the endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VI have deficiencies in lysyl hydroxylase activity. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]. 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 (By similarity). Forms hydroxylysine residues in -Xaa-Lys- Gly- sequences in collagens (PubMed:8621606, PubMed:10686424, PubMed:15854030). These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (Probable). 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 (By similarity). Q02809; P55795: HNRNPH2; NbExp=2; IntAct=EBI-357174, EBI-352823; Rough endoplasmic reticulum membrane; Peripheral membrane protein; Lumenal side. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q02809-1; Sequence=Displayed; Name=2; IsoId=Q02809-2; Sequence=VSP_056300; Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (EDSKSCL1) [MIM:225400]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL1 is an autosomal recessive form characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe. te=The disease is caused by variants affecting the gene represented in this entry. response to hypoxia iron ion binding protein binding endoplasmic reticulum endoplasmic reticulum membrane cellular protein modification process 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 protein homodimerization activity metal ion binding hydroxylysine biosynthetic process dioxygenase activity oxidation-reduction process extracellular exosome catalytic complex protein O-linked glycosylation procollagen glucosyltransferase activity uc001atm.1 uc001atm.2 uc001atm.3 uc001atm.4 uc001atm.5 
ENST00000196371.10 OXCT1 ENST00000196371.10 Homo sapiens 3-oxoacid CoA-transferase 1 (OXCT1), transcript variant 7, non-coding RNA. (from RefSeq NR_157114) B2R5V2 B7Z528 ENST00000196371.1 ENST00000196371.2 ENST00000196371.3 ENST00000196371.4 ENST00000196371.5 ENST00000196371.6 ENST00000196371.7 ENST00000196371.8 ENST00000196371.9 NR_157114 OXCT P55809 SCOT SCOT1_HUMAN uc003jmn.1 uc003jmn.2 uc003jmn.3 uc003jmn.4 uc003jmn.5 This gene encodes a member of the 3-oxoacid CoA-transferase gene family. The encoded protein is a homodimeric mitochondrial matrix enzyme that plays a central role in extrahepatic ketone body catabolism by catalyzing the reversible transfer of coenzyme A from succinyl-CoA to acetoacetate. Mutations in this gene are associated with succinyl CoA:3-oxoacid CoA transferase deficiency. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from 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 :: SRR1660805.69558.1, SRR5189661.109341.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## Key enzyme for ketone body catabolism. Catalyzes the first, rate-limiting step of ketone body utilization in extrahepatic tissues, by transferring coenzyme A (CoA) from a donor thiolester species (succinyl-CoA) to an acceptor carboxylate (acetoacetate), and produces acetoacetyl-CoA. Acetoacetyl-CoA is further metabolized by acetoacetyl- CoA thiolase into two acetyl-CoA molecules which enter the citric acid cycle for energy production (PubMed:10964512). Forms a dimeric enzyme where both of the subunits are able to form enzyme-CoA thiolester intermediates, but only one subunit is competent to transfer the CoA moiety to the acceptor carboxylate (3-oxo acid) and produce a new acyl- CoA. Formation of the enzyme-CoA intermediate proceeds via an unstable anhydride species formed between the carboxylate groups of the enzyme and substrate (By similarity). Reaction=a 3-oxo acid + succinyl-CoA = a 3-oxoacyl-CoA + succinate; Xref=Rhea:RHEA:24564, ChEBI:CHEBI:30031, ChEBI:CHEBI:35973, ChEBI:CHEBI:57292, ChEBI:CHEBI:90726; EC=2.8.3.5; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:24565; Evidence=; Reaction=acetoacetate + succinyl-CoA = acetoacetyl-CoA + succinate; Xref=Rhea:RHEA:25480, ChEBI:CHEBI:13705, ChEBI:CHEBI:30031, ChEBI:CHEBI:57286, ChEBI:CHEBI:57292; EC=2.8.3.5; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:25481; Evidence=; Ketone metabolism; succinyl-CoA degradation; acetoacetyl-CoA from succinyl-CoA: step 1/1. Homodimer (PubMed:10964512, PubMed:23420214). Only one subunit is competent to transfer the CoA moiety to the acceptor carboxylate (3- oxo acid) (By similarity). Mitochondrion Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P55809-1; Sequence=Displayed; Name=2; IsoId=P55809-2; Sequence=VSP_056310; Abundant in heart, followed in order by brain, kidney, skeletal muscle, and lung, whereas in liver it is undetectable. Expressed (at protein level) in all tissues (except in liver), most abundant in myocardium, then brain, kidney, adrenal glands, skeletal muscle and lung; also detectable in leukocytes and fibroblasts. Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]: A disorder of ketone body metabolism, characterized by episodic ketoacidosis. Patients are usually asymptomatic between episodes. te=The disease is caused by variants affecting the gene represented in this entry. Belongs to the 3-oxoacid CoA-transferase family. nucleoplasm mitochondrion mitochondrial matrix brain development heart development response to nutrient 3-oxoacid CoA-transferase activity CoA-transferase activity response to hormone response to activity transferase activity positive regulation of insulin secretion involved in cellular response to glucose stimulus ketone catabolic process response to drug response to starvation protein homodimerization activity response to ethanol cellular ketone body metabolic process ketone body catabolic process adipose tissue development uc003jmn.1 uc003jmn.2 uc003jmn.3 uc003jmn.4 uc003jmn.5 
ENST00000196482.4 ZNF324 ENST00000196482.4 Homo sapiens zinc finger protein 324 (ZNF324), mRNA. (from RefSeq NM_014347) B3KRX1 ENST00000196482.1 ENST00000196482.2 ENST00000196482.3 NM_014347 O75467 Z324A_HUMAN ZNF324A uc002qsw.1 uc002qsw.2 uc002qsw.3 uc002qsw.4 May be involved in transcriptional regulation. May be involved in regulation of cell proliferation. Nucleus Expressed at high levels in the spleen, thymus, and PBMC, at low levels in the prostate, ovary, small intestine, colon (mucosal lining), placenta, lung, and pancreas, and very weakly expressed in the liver and kidney. Induced at the early stage of T cell activation. Regulated at the transcriptional level during the cell cycle. Induced at a maximum level in the S phase. Belongs to the krueppel C2H2-type zinc-finger protein family. nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated metal ion binding uc002qsw.1 uc002qsw.2 uc002qsw.3 uc002qsw.4 
ENST00000196489.4 ZNF416 ENST00000196489.4 Homo sapiens zinc finger protein 416 (ZNF416), transcript variant 1, mRNA. (from RefSeq NM_017879) ENST00000196489.1 ENST00000196489.2 ENST00000196489.3 NM_017879 Q9BWM5 Q9NWW8 ZN416_HUMAN uc002qpf.1 uc002qpf.2 uc002qpf.3 uc002qpf.4 uc002qpf.5 May be involved in transcriptional regulation. Nucleus Belongs to the krueppel C2H2-type zinc-finger protein family. Sequence=BAA91257.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence=; nucleic acid binding DNA binding nucleus regulation of transcription, DNA-templated metal ion binding uc002qpf.1 uc002qpf.2 uc002qpf.3 uc002qpf.4 uc002qpf.5 
ENST00000196551.8 RPS5 ENST00000196551.8 Homo sapiens ribosomal protein S5 (RPS5), mRNA. (from RefSeq NM_001009) B2R4T2 ENST00000196551.1 ENST00000196551.2 ENST00000196551.3 ENST00000196551.4 ENST00000196551.5 ENST00000196551.6 ENST00000196551.7 NM_001009 P46782 Q96BN0 RPS5 RS5_HUMAN uc061dsc.1 uc061dsc.2 Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7P family of ribosomal proteins. It is located in the cytoplasm. Variable expression of this gene in colorectal cancers compared to adjacent normal tissues has been observed, although no correlation between the level of expression and the severity of the disease has been found. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [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 :: SRR5189652.100764.1, SRR5189658.142489.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000196551.8/ ENSP00000196551.3 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Component of the small ribosomal subunit (PubMed:23636399). The ribosome is a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:23636399). 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 (PubMed:34516797). Component of the small ribosomal subunit. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3 (PubMed:34516797). P46782; P54253: ATXN1; NbExp=3; IntAct=EBI-350569, EBI-930964; P46782; P42858: HTT; NbExp=3; IntAct=EBI-350569, EBI-466029; P46782; Q8WXH2: JPH3; NbExp=3; IntAct=EBI-350569, EBI-1055254; Cytoplasm Nucleus, nucleolus Belongs to the universal ribosomal protein uS7 family. ribosomal small subunit assembly nuclear-transcribed mRNA catabolic process, nonsense-mediated decay RNA binding mRNA binding structural constituent of ribosome protein binding nucleoplasm cytosol ribosome focal adhesion translation translational initiation regulation of translational fidelity SRP-dependent cotranslational protein targeting to membrane small ribosomal subunit membrane viral transcription rRNA binding cytosolic small ribosomal subunit extracellular exosome ribonucleoprotein complex uc061dsc.1 uc061dsc.2 
ENST00000197268.13 FAM234B ENST00000197268.13 Homo sapiens family with sequence similarity 234 member B (FAM234B), mRNA. (from RefSeq NM_020853) A2RU67 ENST00000197268.1 ENST00000197268.10 ENST00000197268.11 ENST00000197268.12 ENST00000197268.2 ENST00000197268.3 ENST00000197268.4 ENST00000197268.5 ENST00000197268.6 ENST00000197268.7 ENST00000197268.8 ENST00000197268.9 F234B_HUMAN FAM234B KIAA1467 NM_020853 Q49AF2 Q5CZ81 Q6ZUV7 Q9P261 uc001rbi.1 uc001rbi.2 uc001rbi.3 uc001rbi.4 uc001rbi.5 Membrane ; Single-pass membrane protein Golgi outpost Cytoplasm, cytoskeleton, microtubule organizing center Note=Localizes to the postsynaptic Golgi apparatus region, also named Golgi outpost, which shapes dendrite morphology by functioning as sites of acentrosomal microtubule nucleation. Belongs to the FAM234 family. membrane integral component of membrane uc001rbi.1 uc001rbi.2 uc001rbi.3 uc001rbi.4 uc001rbi.5 
ENST00000198536.7 PILRA ENST00000198536.7 Homo sapiens paired immunoglobin like type 2 receptor alpha (PILRA), transcript variant 1, mRNA. (from RefSeq NM_013439) ENST00000198536.1 ENST00000198536.2 ENST00000198536.3 ENST00000198536.4 ENST00000198536.5 ENST00000198536.6 NM_013439 PILRA_HUMAN Q8NHI1 Q9UKJ1 uc003uuo.1 uc003uuo.2 Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008]. Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRA is thought to act as a cellular signaling inhibitory receptor by recruiting cytoplasmic phosphatases like PTPN6/SHP-1 and PTPN11/SHP-2 via their SH2 domains that block signal transduction through dephosphorylation of signaling molecules. Receptor for PIANP. (Microbial infection) Acts as an entry co-receptor for herpes simplex virus 1. Monomer. Interacts with PTPN6/SHP-1 and PTPN11/SHP-2 upon tyrosine phosphorylation. (Microbial infection) Interacts with herpes simplex virus 1 glycoprotein B. Q9UKJ1; Q5KU26: COLEC12; NbExp=2; IntAct=EBI-965833, EBI-1104680; Q9UKJ1; Q9NQX5: NPDC1; NbExp=6; IntAct=EBI-965833, EBI-748927; Q9UKJ1; P29350: PTPN6; NbExp=5; IntAct=EBI-965833, EBI-78260; Q9UKJ1; P06436: gB; Xeno; NbExp=3; IntAct=EBI-965833, EBI-1771271; [Isoform 1]: Cell membrane ; Single- pass type I membrane protein [Isoform 2]: Cell membrane ; Single- pass type I membrane protein [Isoform 3]: Secreted [Isoform 4]: Secreted Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9UKJ1-1; Sequence=Displayed; Name=2; IsoId=Q9UKJ1-2; Sequence=VSP_017502; Name=3; Synonyms=FDF03-deltaTM; IsoId=Q9UKJ1-3; Sequence=VSP_017501; Name=4; Synonyms=FDF03-M14; IsoId=Q9UKJ1-4; Sequence=VSP_017500; Predominantly detected in hemopoietic tissues and is expressed by monocytes, macrophages, and granulocytes, but not by lymphocytes. Also strongly expressed by dendritic cells (DC); preferentially by CD14+/CD1a- DC derived from CD34+ progenitors. Also expressed by CD11c+ blood and tonsil DC, but not by CD11c- DC precursors. Contains 2 copies 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. PTPN6 seems to bind predominantly to the first ITIM motif. According to PubMed:10660620, N- and O-glycosylated. According to PubMed:10903717, only N-glycosylated. Phosphorylated on tyrosine residues. protein binding extracellular region plasma membrane signal transduction membrane integral component of membrane viral process MHC class I protein binding regulation of immune response extracellular exosome uc003uuo.1 uc003uuo.2 
ENST00000198767.11 RRN3 ENST00000198767.11 Homo sapiens RRN3 homolog, RNA polymerase I transcription factor (RRN3), transcript variant 1, mRNA. (from RefSeq NM_018427) A2RTY9 B4E0J7 B4E3T2 ENST00000198767.1 ENST00000198767.10 ENST00000198767.2 ENST00000198767.3 ENST00000198767.4 ENST00000198767.5 ENST00000198767.6 ENST00000198767.7 ENST00000198767.8 ENST00000198767.9 NM_018427 Q3MHU9 Q6IPL4 Q9H4F0 Q9NYV6 RRN3_HUMAN TIFIA uc002dde.1 uc002dde.2 uc002dde.3 uc002dde.4 uc002dde.5 Required for efficient transcription initiation by RNA polymerase I. Required for the formation of the competent preinitiation complex (PIC). Dissociates from pol I as a consequence of transcription. In vitro, cannot activate transcription in a subsequent transcription reaction (By similarity). Interacts with POLR1F, EIF3L, TAF1B and TAF1C. Nucleus, nucleolus Event=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q9NYV6-1; Sequence=Displayed; Name=2; IsoId=Q9NYV6-2; Sequence=VSP_056338, VSP_056339; Name=3; IsoId=Q9NYV6-3; Sequence=VSP_056520; Name=4; IsoId=Q9NYV6-4; Sequence=VSP_056519, VSP_056521; Phosphorylation is required for participation in rDNA transcription (By similarity). Phosphorylated at Thr-200 by MAPK9/JNK2, which abrogates initiation complex formation. Belongs to the RRN3 family. RNA polymerase I core binding RNA polymerase I CORE element sequence-specific DNA binding transcription factor activity, core RNA polymerase I binding RNA polymerase I transcriptional preinitiation complex assembly in utero embryonic development nucleus nucleoplasm nucleolus DNA-templated transcription, initiation transcription initiation from RNA polymerase I promoter nucleolus organization cytoplasm organization cell proliferation positive regulation of neuron projection development ribosome biogenesis positive regulation of transcription, DNA-templated homeostasis of number of cells RNA polymerase binding negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator regulation of DNA-templated transcription, initiation uc002dde.1 uc002dde.2 uc002dde.3 uc002dde.4 uc002dde.5 
ENST00000198801.10 MOGAT2 ENST00000198801.10 Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA. (from RefSeq NM_025098) A8K7I3 DC5 DGAT2L5 ENST00000198801.1 ENST00000198801.2 ENST00000198801.3 ENST00000198801.4 ENST00000198801.5 ENST00000198801.6 ENST00000198801.7 ENST00000198801.8 ENST00000198801.9 MOGAT2 MOGT2_HUMAN NM_025098 Q3SYC1 Q3SYC2 Q6ZQZ2 Q86UH6 Q9H630 uc010rru.1 uc010rru.2 uc010rru.3 uc010rru.4 The protein encoded by this gene is an enzyme that catalyzes the synthesis of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. The encoded protein is important in the uptake of dietary fat by the small intestine. This protein forms a complex with diacylglycerol O-acyltransferase 2 in the endoplasmic reticulum, and this complex catalyzes the synthesis of triacylglycerol. [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 :: AK291998.1, BC103876.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2142348 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000198801.10/ ENSP00000198801.5 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Involved in glycerolipid synthesis and lipid metabolism (PubMed:12621063, PubMed:18768481, PubMed:27184406, PubMed:28420705). Catalyzes the formation of diacylglycerol, the precursor of triacylglycerol, by transferring the acyl chain of a fatty acyl-CoA to a monoacylglycerol (PubMed:12621063, PubMed:27184406). Plays a central role in absorption of dietary fat in the small intestine by catalyzing the resynthesis of triacylglycerol in enterocytes (By similarity). Has a preference toward monoacylglycerols containing unsaturated fatty acids in an order of C18:3 > C18:2 > C18:1 > C18:0 at sn-2 (PubMed:12621063). Able to use 1-monoalkylglycerol (1-MAkG, 1-O- alkylglycerol) as an acyl acceptor for the synthesis of monoalkyl- monoacylglycerol (MAMAG, 1-O-alkyl-3-acylglycerol or 1-O-alkyl-2- acylglycerol) and subsequently, with lower efficiency, may add another acyl chain producing monoalkyl-diacylglycerol (MADAG, 1-O-alkyl-2,3- diacylglycerol) (PubMed:28420705). Possesses weak but significant activity with diacylglycerol as substrate, producing triacylglycerol (triacyl-sn-glycerol) (PubMed:18768481). Reaction=a 2-acylglycerol + an acyl-CoA = a 1,2-diacylglycerol + CoA; Xref=Rhea:RHEA:16741, ChEBI:CHEBI:17389, ChEBI:CHEBI:49172, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342; EC=2.3.1.22; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:16742; Evidence= Reaction=2-(9Z-octadecenoyl)-glycerol + butanoyl-CoA = 1-butanoyl-2- (9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:77271, ChEBI:CHEBI:57287, ChEBI:CHEBI:57371, ChEBI:CHEBI:73990, ChEBI:CHEBI:197386; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77272; Evidence=; Reaction=2-(9Z-octadecenoyl)-glycerol + octanoyl-CoA = 1-octanoyl-2- (9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:77539, ChEBI:CHEBI:57287, ChEBI:CHEBI:57386, ChEBI:CHEBI:73990, ChEBI:CHEBI:197391; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77540; Evidence=; Reaction=2-(9Z-octadecenoyl)-glycerol + dodecanoyl-CoA = 1-dodecanoyl- 2-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:77275, ChEBI:CHEBI:57287, ChEBI:CHEBI:57375, ChEBI:CHEBI:73990, ChEBI:CHEBI:75579; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77276; Evidence=; Reaction=2-(9Z-octadecenoyl)-glycerol + tetradecanoyl-CoA = 1- tetradecanoyl-2-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:77279, ChEBI:CHEBI:57287, ChEBI:CHEBI:57385, ChEBI:CHEBI:73990, ChEBI:CHEBI:75582; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77280; Evidence=; Reaction=2-(9Z-octadecenoyl)-glycerol + hexadecanoyl-CoA = 1- hexadecanoyl-2-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:77283, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:73990, ChEBI:CHEBI:75585; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77284; Evidence=; Reaction=2-(9Z-octadecenoyl)-glycerol + octadecanoyl-CoA = 1- octadecanoyl-2-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:77287, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:73990, ChEBI:CHEBI:75590; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77288; Evidence=; Reaction=2-(9Z-octadecenoyl)-glycerol + eicosanoyl-CoA = 1-eicosanoyl- 2-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:77543, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380, ChEBI:CHEBI:73990, ChEBI:CHEBI:197392; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77544; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 2-(9Z-octadecenoyl)-glycerol = 1,2-di- (9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:39951, ChEBI:CHEBI:52323, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:73990; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39952; Evidence=; Reaction=(9Z,12Z)-octadecadienoyl-CoA + 2-(9Z-octadecenoyl)-glycerol = 1-(9Z,12Z-octadecadienoyl)-2-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:77291, ChEBI:CHEBI:57287, ChEBI:CHEBI:57383, ChEBI:CHEBI:73990, ChEBI:CHEBI:75614; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77292; Evidence=; Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + 2-(9Z-octadecenoyl)- glycerol = 1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-2-(9Z-octadecenoyl)- glycerol + CoA; Xref=Rhea:RHEA:77547, ChEBI:CHEBI:57287, ChEBI:CHEBI:57368, ChEBI:CHEBI:73990, ChEBI:CHEBI:75611; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77548; Evidence=; Reaction=a 2-acylglycerol + an acyl-CoA = a 1,2-diacyl-sn-glycerol + CoA; Xref=Rhea:RHEA:32947, ChEBI:CHEBI:17389, ChEBI:CHEBI:17815, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:32948; Evidence=; Reaction=a 2-acylglycerol + an acyl-CoA = a 2,3-diacyl-sn-glycerol + CoA; Xref=Rhea:RHEA:38467, ChEBI:CHEBI:17389, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342, ChEBI:CHEBI:75524; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38468; Evidence=; Reaction=a 1-acylglycerol + an acyl-CoA = a 1,2-diacylglycerol + CoA; Xref=Rhea:RHEA:39943, ChEBI:CHEBI:35759, ChEBI:CHEBI:49172, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39944; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-decanoylglycerol = 1-decanoyl-2-(9Z- octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:38019, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75547, ChEBI:CHEBI:85787; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38020; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-dodecanoylglycerol = 1-dodecanoyl-2- (9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:38115, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75539, ChEBI:CHEBI:75579; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38116; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-tetradecanoylglycerol = 1- tetradecanoyl-2-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:38119, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75562, ChEBI:CHEBI:75582; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38120; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-hexadecanoylglycerol = 1- hexadecanoyl-2-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:38123, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:69081, ChEBI:CHEBI:75585; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38124; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-octadecanoylglycerol = 1- octadecanoyl-2-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:38127, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75555, ChEBI:CHEBI:75590; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38128; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-(9Z-octadecenoyl)-glycerol = 1,2-di- (9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:37915, ChEBI:CHEBI:52323, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75342; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:37916; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-(9Z,12Z-octadecadienoyl)-glycerol = 1-(9Z,12Z-octadecadienoyl)-2-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:38131, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75568, ChEBI:CHEBI:75614; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38132; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-(9Z,12Z,15Z-octadecatrienoyl)- glycerol = 1-(9Z,12Z,15Z-octadecatrienoyl)-2-(9Z-octadecenoyl)- glycerol + CoA; Xref=Rhea:RHEA:38135, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75609, ChEBI:CHEBI:75610; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38136; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)- glycerol = 1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-2-(9Z-octadecenoyl)- glycerol + CoA; Xref=Rhea:RHEA:38139, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75611, ChEBI:CHEBI:75612; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38140; Evidence=; Reaction=a 1-acylglycerol + an acyl-CoA = a 1,3-diacylglycerol + CoA; Xref=Rhea:RHEA:77571, ChEBI:CHEBI:35759, ChEBI:CHEBI:47777, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77572; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-decanoylglycerol = 1-decanoyl-3-(9Z- octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:77615, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75547, ChEBI:CHEBI:197430; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77616; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-tetradecanoylglycerol = 1- tetradecanoyl-3-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:77631, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75562, ChEBI:CHEBI:197427; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77632; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-dodecanoylglycerol = 1-dodecanoyl-3- (9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:77587, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75539, ChEBI:CHEBI:197406; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77588; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-hexadecanoylglycerol = 1-(9Z- octadecenoyl)-3-hexadecanoylglycerol + CoA; Xref=Rhea:RHEA:77563, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:69081, ChEBI:CHEBI:75869; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77564; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-octadecanoylglycerol = 1- octadecanoyl-3-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:77583, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75555, ChEBI:CHEBI:197407; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77584; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-(9Z-octadecenoyl)-sn-glycerol = 1,3- di-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:77267, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75735, ChEBI:CHEBI:75757; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77268; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-(9Z,12Z-octadecadienoyl)-glycerol = 1-(9Z-octadecenoyl)-3-(9Z,12Z-octadecadienoyl)-glycerol + CoA; Xref=Rhea:RHEA:77591, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75568, ChEBI:CHEBI:133484; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77592; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-(9Z,12Z,15Z-octadecatrienoyl)- glycerol = 1-(9Z,12Z,15Z-octadecatrienoyl)-3-(9Z-octadecenoyl)- glycerol + CoA; Xref=Rhea:RHEA:77595, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75610, ChEBI:CHEBI:197408; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77596; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)- glycerol = 1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-3-(9Z-octadecenoyl)- glycerol + CoA; Xref=Rhea:RHEA:77635, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:75612, ChEBI:CHEBI:197426; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77636; Evidence=; Reaction=1-O-alkylglycerol + an acyl-CoA = 1-O-alkyl-3-acylglycerol + CoA; Xref=Rhea:RHEA:77627, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342, ChEBI:CHEBI:76225, ChEBI:CHEBI:77997; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77628; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-O-(9Z-octadecenyl)-glycerol = 1-O- (9Z-octadecyl)-3-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:55340, ChEBI:CHEBI:34116, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:197429; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55341; Evidence=; Reaction=a 1,2-diacyl-sn-glycerol + an acyl-CoA = a triacyl-sn-glycerol + CoA; Xref=Rhea:RHEA:10868, ChEBI:CHEBI:17815, ChEBI:CHEBI:57287, ChEBI:CHEBI:58342, ChEBI:CHEBI:64615; EC=2.3.1.20; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:10869; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1,2-di-(9Z-octadecenoyl)-sn-glycerol = 1,2,3-tri-(9Z-octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:38219, ChEBI:CHEBI:52333, ChEBI:CHEBI:53753, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:38220; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-O-(9Z-octadecyl)-3-(9Z- octadecenoyl)-glycerol = 1-O-(9Z-octadecenyl)-2,3-di-(9Z- octadecenoyl)glycerol + CoA; Xref=Rhea:RHEA:55344, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:138735, ChEBI:CHEBI:197429; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:55345; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-octanoylglycerol = 1-octanoyl-3-(9Z- octadecenoyl)-glycerol + CoA; Xref=Rhea:RHEA:77579, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:85241, ChEBI:CHEBI:197405; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77580; Evidence=; Reaction=(9Z)-octadecenoyl-CoA + 1-O-hexadecylglycerol = 1-O-hexadecyl- 3-(9Z)-octadecenoylglycerol + CoA; Xref=Rhea:RHEA:77575, ChEBI:CHEBI:57287, ChEBI:CHEBI:57387, ChEBI:CHEBI:76061, ChEBI:CHEBI:76062; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:77576; Evidence=; Inhibited by oleic acid and sphingosine, while it is stimulated by phosphatidylcholine, phosphatidylserine and phosphatidic acid. Kinetic parameters: KM=45 uM for sn-1-monooleoylglycerol ; Glycerolipid metabolism; triacylglycerol biosynthesis. Endoplasmic reticulum membrane ; Multi-pass membrane protein Cytoplasm, perinuclear region Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q3SYC2-1; Sequence=Displayed; Name=2; IsoId=Q3SYC2-2; Sequence=VSP_020358; Name=3; Synonyms=MGAT2V, Trunc; IsoId=Q3SYC2-3; Sequence=VSP_020359, VSP_020360; Highly expressed in liver, small intestine, colon, stomach and kidney. Belongs to the diacylglycerol acyltransferase family. 2-acylglycerol O-acyltransferase activity cytoplasm endoplasmic reticulum endoplasmic reticulum membrane glycerol metabolic process lipid metabolic process diacylglycerol biosynthetic process membrane integral component of membrane acetyltransferase activity transferase activity transferase activity, transferring acyl groups transferase activity, transferring acyl groups other than amino-acyl groups triglyceride biosynthetic process perinuclear region of cytoplasm intestinal absorption perinuclear endoplasmic reticulum membrane uc010rru.1 uc010rru.2 uc010rru.3 uc010rru.4 
ENST00000199280.4 AQP2 ENST00000199280.4 Homo sapiens aquaporin 2 (AQP2), mRNA. (from RefSeq NM_000486) AQP2_HUMAN ENST00000199280.1 ENST00000199280.2 ENST00000199280.3 NM_000486 P41181 Q9UD68 uc001rvn.1 uc001rvn.2 uc001rvn.3 uc001rvn.4 uc001rvn.5 This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 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 :: BC042496.1, S73196.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient (PubMed:8140421, PubMed:7524315, PubMed:7510718, PubMed:15509592). Plays an essential role in renal water homeostasis (PubMed:8140421, PubMed:7524315, PubMed:15509592). Homotetramer (PubMed:24733887). Interacts with micropeptide MIAC; the interaction leads to a reduction of filamentous actin fibers and inhibition of the EREG/EGFR signaling pathway (PubMed:32176498, PubMed:36117171). P41181; O14735: CDIPT; NbExp=3; IntAct=EBI-12701138, EBI-358858; P41181; O43889-2: CREB3; NbExp=3; IntAct=EBI-12701138, EBI-625022; P41181; Q96BA8: CREB3L1; NbExp=3; IntAct=EBI-12701138, EBI-6942903; P41181; P52803: EFNA5; NbExp=3; IntAct=EBI-12701138, EBI-1753674; P41181; Q9UKR5: ERG28; NbExp=3; IntAct=EBI-12701138, EBI-711490; P41181; Q9Y282: ERGIC3; NbExp=3; IntAct=EBI-12701138, EBI-781551; P41181; Q7Z2K6: ERMP1; NbExp=3; IntAct=EBI-12701138, EBI-10976398; P41181; Q5JX71: FAM209A; NbExp=3; IntAct=EBI-12701138, EBI-18304435; P41181; Q92520: FAM3C; NbExp=3; IntAct=EBI-12701138, EBI-2876774; P41181; Q8TED1: GPX8; NbExp=3; IntAct=EBI-12701138, EBI-11721746; P41181; P24593: IGFBP5; NbExp=3; IntAct=EBI-12701138, EBI-720480; P41181; Q9Y5U4: INSIG2; NbExp=3; IntAct=EBI-12701138, EBI-8503746; P41181; A8MZ59: LEUTX; NbExp=3; IntAct=EBI-12701138, EBI-17490413; P41181; Q8TAF8: LHFPL5; NbExp=3; IntAct=EBI-12701138, EBI-2820517; P41181; Q6IN84: MRM1; NbExp=3; IntAct=EBI-12701138, EBI-5454865; P41181; Q5J8X5: MS4A13; NbExp=3; IntAct=EBI-12701138, EBI-12070086; P41181; P15941-11: MUC1; NbExp=3; IntAct=EBI-12701138, EBI-17263240; P41181; Q8IXM6: NRM; NbExp=3; IntAct=EBI-12701138, EBI-10262547; P41181; Q6UX06: OLFM4; NbExp=3; IntAct=EBI-12701138, EBI-2804156; P41181; Q8NH19: OR10AG1; NbExp=3; IntAct=EBI-12701138, EBI-13339917; P41181; Q96RD7: PANX1; NbExp=3; IntAct=EBI-12701138, EBI-7037612; P41181; Q13113: PDZK1IP1; NbExp=3; IntAct=EBI-12701138, EBI-716063; P41181; Q01453: PMP22; NbExp=3; IntAct=EBI-12701138, EBI-2845982; P41181; P54315: PNLIPRP1; NbExp=3; IntAct=EBI-12701138, EBI-8652812; P41181; Q59EV6: PPGB; NbExp=3; IntAct=EBI-12701138, EBI-14210385; P41181; Q5QGT7: RTP2; NbExp=3; IntAct=EBI-12701138, EBI-10244780; P41181; Q9BXS9-3: SLC26A6; NbExp=3; IntAct=EBI-12701138, EBI-12814225; P41181; Q9BRI3: SLC30A2; NbExp=3; IntAct=EBI-12701138, EBI-8644112; P41181; Q9NVC3: SLC38A7; NbExp=3; IntAct=EBI-12701138, EBI-10314552; P41181; Q5SQN1: SNAP47; NbExp=3; IntAct=EBI-12701138, EBI-10244848; P41181; Q9BVC6: TMEM109; NbExp=3; IntAct=EBI-12701138, EBI-1057733; P41181; A2RU14: TMEM218; NbExp=3; IntAct=EBI-12701138, EBI-10173151; P41181; Q5W0B7: TMEM236; NbExp=3; IntAct=EBI-12701138, EBI-13378608; P41181; Q9H2L4: TMEM60; NbExp=3; IntAct=EBI-12701138, EBI-2852148; P41181; Q8N2M4: TMEM86A; NbExp=3; IntAct=EBI-12701138, EBI-12015604; P41181; Q5BJF2: TMEM97; NbExp=3; IntAct=EBI-12701138, EBI-12111910; P41181; A5PKU2: TUSC5; NbExp=3; IntAct=EBI-12701138, EBI-11988865; P41181; Q96EC8: YIPF6; NbExp=3; IntAct=EBI-12701138, EBI-751210; Apical cell membrane ulti-pass membrane protein Basolateral cell membrane ; Multi-pass membrane protein Cell membrane ulti-pass membrane protein Cytoplasmic vesicle membrane ; Multi-pass membrane protein lgi apparatus, trans-Golgi network membrane ; Multi-pass membrane protein Note=Shuttles from vesicles to the apical membrane (PubMed:15509592). Vasopressin-regulated phosphorylation is required for translocation to the apical cell membrane (PubMed:15509592). PLEKHA8/FAPP2 is required to transport AQP2 from the TGN to sites where AQP2 is phosphorylated (By similarity). Expressed in collecting tubules in kidney medulla (at protein level) (PubMed:7510718). Detected in kidney (PubMed:7510718). Aquaporins contain two tandem repeats each containing three membrane-spanning domains and a pore-forming loop with the signature motif Asn-Pro-Ala (NPA). Ser-256 phosphorylation is necessary and sufficient for expression at the apical membrane. Endocytosis is not phosphorylation-dependent. N-glycosylated. Diabetes insipidus, nephrogenic, 2, autosomal (NDI2) [MIM:125800]: A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia. Inheritance can be autosomal dominant or recessive. te=The disease is caused by variants affecting the gene represented in this entry. Belongs to the MIP/aquaporin (TC 1.A.8) family. renal water homeostasis renal water transport water transmembrane transporter activity protein binding Golgi apparatus plasma membrane integral component of plasma membrane water transport glycerol transmembrane transporter activity water channel activity channel activity glycerol transport membrane integral component of membrane basolateral plasma membrane apical plasma membrane transport vesicle membrane cytoplasmic vesicle membrane cytoplasmic vesicle cellular response to water deprivation protein homotetramerization recycling endosome transmembrane transport extracellular exosome cellular response to copper ion cellular response to mercury ion metanephric collecting duct development lumenal side of membrane uc001rvn.1 uc001rvn.2 uc001rvn.3 uc001rvn.4 uc001rvn.5 
ENST00000199320.9 DIMT1 ENST00000199320.9 Homo sapiens DIMT1 rRNA methyltransferase and ribosome maturation factor (DIMT1), transcript variant 1, mRNA. (from RefSeq NM_014473) DIM1_HUMAN DIMT1 DIMT1L ENST00000199320.1 ENST00000199320.2 ENST00000199320.3 ENST00000199320.4 ENST00000199320.5 ENST00000199320.6 ENST00000199320.7 ENST00000199320.8 HUSSY-05 NM_014473 O76025 Q9BU77 Q9UES1 Q9UNQ2 uc003jta.1 uc003jta.2 uc003jta.3 uc003jta.4 uc003jta.5 The protein encoded by this gene is a methyltransferase that is responsible for dimethylation of adjacent adenosines near the 18S rRNA decoding site. The encoded protein is essential for ribosome biogenesis, although its catalytic activity is not involved in the process. The yeast ortholog of this protein functions in the cytoplasm while this protein functions in the nucleus. [provided by RefSeq, Jan 2017]. Specifically dimethylates two adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 18S rRNA in the 40S particle (PubMed:25851604). Involved in the pre-rRNA processing steps leading to small-subunit rRNA production independently of its RNA-modifying catalytic activity (PubMed:25851604). 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 (PubMed:34516797). 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=AAC72947.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; 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 uc003jta.1 uc003jta.2 uc003jta.3 uc003jta.4 uc003jta.5 
ENST00000199389.11 EIF2AK1 ENST00000199389.11 Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 1 (EIF2AK1), transcript variant 1, mRNA. (from RefSeq NM_014413) A8K2R2 E2AK1_HUMAN EIF2AK1 ENST00000199389.1 ENST00000199389.10 ENST00000199389.2 ENST00000199389.3 ENST00000199389.4 ENST00000199389.5 ENST00000199389.6 ENST00000199389.7 ENST00000199389.8 ENST00000199389.9 HRI KIAA1369 NM_014413 PRO1362 Q549K6 Q8NBW3 Q9BQI3 Q9HC02 Q9NYE0 Q9P0V6 Q9P1J5 Q9P2H8 Q9UHG4 uc003spp.1 uc003spp.2 uc003spp.3 uc003spp.4 uc003spp.5 The protein encoded by this gene acts at the level of translation initiation to downregulate protein synthesis in response to stress. The encoded protein is a kinase that can be inactivated by hemin. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]. Metabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) in response to various stress conditions (PubMed:32132706, PubMed:32132707, PubMed:37327776). Key activator of the integrated stress response (ISR) required for adaptation to various stress, such as heme deficiency, oxidative stress, osmotic shock, mitochondrial dysfunction and heat shock (PubMed:32132706, PubMed:32132707, PubMed:37327776). EIF2S1/eIF-2-alpha phosphorylation in response to stress converts EIF2S1/eIF-2-alpha in a global protein synthesis inhibitor, leading to a global attenuation of cap-dependent translation, while concomitantly initiating the preferential translation of ISR-specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming (PubMed:32132706, PubMed:32132707, PubMed:37327776). Acts as a key sensor of heme-deficiency: in normal conditions, binds hemin via a cysteine thiolate and histidine nitrogenous coordination, leading to inhibit the protein kinase activity (By similarity). This binding occurs with moderate affinity, allowing it to sense the heme concentration within the cell: heme depletion relieves inhibition and stimulates kinase activity, activating the ISR (By similarity). Thanks to this unique heme-sensing capacity, plays a crucial role to shut off protein synthesis during acute heme-deficient conditions (By similarity). In red blood cells (RBCs), controls hemoglobin synthesis ensuring a coordinated regulation of the synthesis of its heme and globin moieties (By similarity). It thereby plays an essential protective role for RBC survival in anemias of iron deficiency (By similarity). Iron deficiency also triggers activation by full-length DELE1 (PubMed:37327776). Also activates the ISR in response to mitochondrial dysfunction: HRI/EIF2AK1 protein kinase activity is activated upon binding to the processed form of DELE1 (S-DELE1), thereby promoting the ATF4-mediated reprogramming (PubMed:32132706, PubMed:32132707). 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=; In normal conditions, the protein kinase activity is inhibited; inhibition is relieved by various stress conditions (By similarity). Inhibited by heme: in presence of heme, forms a disulfide- linked inactive homodimer (By similarity). Heme depletion relieves inhibition and stimulates kinase activity by autophosphorylation. Inhibited by the heme metabolites biliverdin and bilirubin (By similarity). Induced by oxidative stress generated by arsenite treatment. Binding of nitric oxide (NO) to the heme iron in the N- terminal heme-binding domain activates the kinase activity, while binding of carbon monoxide (CO) suppresses kinase activity (By similarity). Protein kinase activity is also activated upon binding to DELE1 in response to various stress, triggering the integrated stress response (ISR): activated by full-length DELE1 in response to iron deficiency, while it is activated by the processed form of DELE1 (S- DELE1) in response to mitochondrial stress (PubMed:32132706, PubMed:32132707, PubMed:37327776). Kinetic parameters: KM=3.88 uM for eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) (in absence of DELE1 and in absence of hemin) ; KM=1.13 uM for eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) (in presence of DELE1 and in absence of hemin) ; KM=71.91 uM for eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) (in absence of DELE1 and in presence of hemin) ; KM=6.56 uM for eukaryotic translation initiation factor 2 (EIF2S1/eIF-2-alpha) (in presence of DELE1 and in presence of hemin) ; Synthesized in an inactive form that binds to the N-terminal domain of CDC37 (PubMed:11036079). Has to be associated with a multiprotein complex containing Hsp90, CDC37 and PPP5C for maturation and activation by autophosphorylation (PubMed:11036079). The phosphatase PPP5C modulates this activation (PubMed:11036079). Homodimer; homodimerizes in presence of heme, forming a disulfide- linked inactive homodimer (By similarity). Interacts with DELE1; binds both to full-length DELE1 and processed form of DELE1 (S-DELE1) in response to stress, leading to activate its protein kinase activity and trigger the integrated stress response (ISR) (PubMed:32132706, PubMed:32132707, PubMed:37327776). Q9BQI3; P08238: HSP90AB1; NbExp=2; IntAct=EBI-640377, EBI-352572; Q9BQI3; P11142: HSPA8; NbExp=2; IntAct=EBI-640377, EBI-351896; Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9BQI3-1; Sequence=Displayed; Name=2; IsoId=Q9BQI3-2; Sequence=VSP_007589; Activated by autophosphorylation; phosphorylated predominantly on serine and threonine residues, but also on tyrosine residues. Autophosphorylation at Thr-488 is required for kinase activation. The active autophosphorylated form apparently is largely refractory to cellular heme fluctuations. Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome (LEMSPAD) [MIM:618878]: A disorder characterized by delayed motor development, speech delay with dysarthria, hypertonia, progressive spasticity, hyperreflexia, and bradykinesia. Cognition is normal. Patients manifest anxiety and attention deficit-hyperactivity disorder. Note=The disease may be caused by variants affecting the gene represented in this entry. Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. GCN2 subfamily. Was reported to be expressed predominantly in erythroid cells and at much lower levels in hepatocytes. However, this paper has been retracted because there was improper manipulation, reuse and analyses. Sequence=AAF70289.1; Type=Frameshift; Evidence=; Sequence=AAF71057.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence=; Sequence=BAA92607.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence=; nucleotide binding acute inflammatory response protein kinase activity protein serine/threonine kinase activity eukaryotic translation initiation factor 2alpha kinase activity protein binding ATP binding cytoplasm regulation of translation protein phosphorylation phagocytosis negative regulation of cell proliferation regulation of translational initiation by eIF2 alpha phosphorylation regulation of eIF2 alpha phosphorylation by heme kinase activity phosphorylation transferase activity negative regulation of translation heme binding macrophage differentiation protein homodimerization activity negative regulation of translational initiation by iron protoporphyrinogen IX metabolic process protein autophosphorylation regulation of hemoglobin biosynthetic process negative regulation of hemoglobin biosynthetic process iron ion homeostasis response to iron ion starvation uc003spp.1 uc003spp.2 uc003spp.3 uc003spp.4 uc003spp.5 
ENST00000199447.9 NME8 ENST00000199447.9 Homo sapiens NME/NM23 family member 8 (NME8), mRNA. (from RefSeq NM_016616) ENST00000199447.1 ENST00000199447.2 ENST00000199447.3 ENST00000199447.4 ENST00000199447.5 ENST00000199447.6 ENST00000199447.7 ENST00000199447.8 NM_016616 Q8N427 Q9NZH1 SPTRX2 TXND3_HUMAN TXNDC3 uc003tfn.1 uc003tfn.2 uc003tfn.3 uc003tfn.4 uc003tfn.5 This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 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 :: GQ472221.1, BC036816.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2151119, SAMEA2161674 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000199447.9/ ENSP00000199447.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Probably required during the final stages of sperm tail maturation in the testis and/or epididymis, where extensive disulfide bonding of fibrous sheath (FS) proteins occurs. May be involved in the reduction of disulfide bonds within the sperm FS components. In vitro, it has neither NDP kinase nor reducing activity on disulfide bonds. Monomer. Cytoplasm Testis-specific. Expressed only in primary spermatocytes and round spermatids. Restricted to spermiogenesis, starting at the pachytene spermatocyte level and peaking at the round and elongating spermatid stage. Contains 3 inactive NDK domains that each lack the active His residue, suggesting that they have no NDP kinase activity. Ciliary dyskinesia, primary, 6 (CILD6) [MIM:610852]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Note=The disease is caused by variants affecting the gene represented in this entry. In the C-terminal section; belongs to the NDK family. cytoplasm multicellular organism development spermatogenesis microtubule binding cell differentiation flagellated sperm motility cellular response to reactive oxygen species outer dynein arm cell redox homeostasis cilium assembly sperm principal piece sperm cytoplasmic droplet uc003tfn.1 uc003tfn.2 uc003tfn.3 uc003tfn.4 uc003tfn.5 
ENST00000199448.9 EPDR1 ENST00000199448.9 Homo sapiens ependymin related 1 (EPDR1), transcript variant 1, mRNA. (from RefSeq NM_017549) A8K4C0 C9JYS3 ENST00000199448.1 ENST00000199448.2 ENST00000199448.3 ENST00000199448.4 ENST00000199448.5 ENST00000199448.6 ENST00000199448.7 ENST00000199448.8 EPDR1_HUMAN MERP1 NM_017549 Q06BL0 Q99M77 Q9UM22 UCC1 uc003tfp.1 uc003tfp.2 uc003tfp.3 uc003tfp.4 uc003tfp.5 uc003tfp.6 The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011]. Binds anionic lipids and gangliosides at acidic pH. Homodimer. Q9UM22; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-946972, EBI-10173507; Q9UM22; Q96KQ7: EHMT2; NbExp=3; IntAct=EBI-946972, EBI-744366; Q9UM22; P49639: HOXA1; NbExp=3; IntAct=EBI-946972, EBI-740785; Q9UM22; P24592: IGFBP6; NbExp=3; IntAct=EBI-946972, EBI-947015; Q9UM22; Q15323: KRT31; NbExp=3; IntAct=EBI-946972, EBI-948001; Q9UM22; O76011: KRT34; NbExp=3; IntAct=EBI-946972, EBI-1047093; Q9UM22; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-946972, EBI-10171774; Q9UM22; Q52LG2: KRTAP13-2; NbExp=3; IntAct=EBI-946972, EBI-11953846; Q9UM22; Q9BYQ6: KRTAP4-11; NbExp=3; IntAct=EBI-946972, EBI-10302392; Q9UM22; Q8IYS1: PM20D2; NbExp=3; IntAct=EBI-946972, EBI-11339910; Q9UM22; Q63HR2: TNS2; NbExp=3; IntAct=EBI-946972, EBI-949753; Q9UM22; Q15654: TRIP6; NbExp=3; IntAct=EBI-946972, EBI-742327; Lysosome lumen Secreted Note=Lysosomal and also secreted. Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9UM22-1; Sequence=Displayed; Name=2; IsoId=Q9UM22-2; Sequence=VSP_031976; Name=3; IsoId=Q9UM22-3; Sequence=VSP_046829; Ubiquitous. Detected in brain, heart, skeletal muscle, kidney, testis, ovary and prostate. N-glycosylated; the glycan contains mannose-6-phosphate moieties. Belongs to the ependymin family. Sequence=AAH00686.2; Type=Erroneous initiation; Evidence=; Sequence=CAB60269.1; Type=Erroneous initiation; Evidence=; calcium ion binding extracellular region lysosome cell-matrix adhesion lipid binding lysosomal lumen uc003tfp.1 uc003tfp.2 uc003tfp.3 uc003tfp.4 uc003tfp.5 uc003tfp.6 
ENST00000199706.13 MRPL28 ENST00000199706.13 Homo sapiens mitochondrial ribosomal protein L28 (MRPL28), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_006428) B2RCM4 D3DU46 ENST00000199706.1 ENST00000199706.10 ENST00000199706.11 ENST00000199706.12 ENST00000199706.2 ENST00000199706.3 ENST00000199706.4 ENST00000199706.5 ENST00000199706.6 ENST00000199706.7 ENST00000199706.8 ENST00000199706.9 MAAT1 NM_006428 Q13084 Q4TT39 Q96S26 Q9BQD8 Q9BR04 RM28_HUMAN uc002cgs.1 uc002cgs.2 uc002cgs.3 uc002cgs.4 Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein, a part of which was originally isolated by its ability to recognize tyrosinase in an HLA-A24-restricted fashion. [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 :: SRR7410570.571234.1, SRR1660803.318866.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2153307, SAMEA2158188 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta MANE Ensembl match :: ENST00000199706.13/ ENSP00000199706.7 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Component of the mitochondrial large ribosomal subunit (mt- LSU) (PubMed:28892042, PubMed:25278503, PubMed:11551941). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins (PubMed:11551941, PubMed:25278503). Interacts with OXA1L. Q13084; Q9NYB9-2: ABI2; NbExp=3; IntAct=EBI-723426, EBI-11096309; Q13084; Q8N9N5: BANP; NbExp=3; IntAct=EBI-723426, EBI-744695; Q13084; Q96GN5: CDCA7L; NbExp=3; IntAct=EBI-723426, EBI-5278764; Q13084; Q01850: CDR2; NbExp=3; IntAct=EBI-723426, EBI-1181367; Q13084; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-723426, EBI-744099; Q13084; Q8IZU0: FAM9B; NbExp=3; IntAct=EBI-723426, EBI-10175124; Q13084; Q6NT76: HMBOX1; NbExp=3; IntAct=EBI-723426, EBI-2549423; Q13084; Q9UKT9: IKZF3; NbExp=3; IntAct=EBI-723426, EBI-747204; Q13084; Q659C4-6: LARP1B; NbExp=3; IntAct=EBI-723426, EBI-12036449; Q13084; Q96BZ8: LENG1; NbExp=3; IntAct=EBI-723426, EBI-726510; Q13084; Q8NI38: NFKBID; NbExp=3; IntAct=EBI-723426, EBI-10271199; Q13084; O60437: PPL; NbExp=3; IntAct=EBI-723426, EBI-368321; Q13084; Q9BWG6: SCNM1; NbExp=3; IntAct=EBI-723426, EBI-748391; Q13084; Q10587: TEF; NbExp=3; IntAct=EBI-723426, EBI-2796967; Q13084; O43734: TRAF3IP2; NbExp=3; IntAct=EBI-723426, EBI-744798; Q13084; Q9BUZ4: TRAF4; NbExp=4; IntAct=EBI-723426, EBI-3650647; Q13084; Q63HK5: TSHZ3; NbExp=3; IntAct=EBI-723426, EBI-9053916; Q13084; Q96PN8: TSSK3; NbExp=3; IntAct=EBI-723426, EBI-3918381; Q13084; O95045-2: UPP2; NbExp=3; IntAct=EBI-723426, EBI-11528386; Q13084; O75604: USP2; NbExp=3; IntAct=EBI-723426, EBI-743272; Q13084; A0A024R8A9: USP20; NbExp=3; IntAct=EBI-723426, EBI-14096082; Q13084; Q8N720: ZNF655; NbExp=3; IntAct=EBI-723426, EBI-625509; Mitochondrion Found in a variety of normal tissues including spleen, testes, thymus, liver, kidney, brain, adrenal, lung and retinal tissue. Potentially represents an important therapeutic reagent for HLA-A24 patients. This antigen is recognized by tumor-infiltrating lymphocyte (TIL) 1290 in the context of HLA-A24. Belongs to the bacterial ribosomal protein bL28 family. Sequence=AAC50181.1; Type=Erroneous initiation; Evidence=; Sequence=AAK61226.1; Type=Erroneous gene model prediction; Evidence=; RNA binding structural constituent of ribosome protein binding mitochondrion mitochondrial inner membrane mitochondrial ribosome mitochondrial large ribosomal subunit cytosol ribosome translation mitochondrial translational elongation mitochondrial translational termination uc002cgs.1 uc002cgs.2 uc002cgs.3 uc002cgs.4 
ENST00000199708.3 HBQ1 ENST00000199708.3 Homo sapiens hemoglobin subunit theta 1 (HBQ1), mRNA. (from RefSeq NM_005331) ENST00000199708.1 ENST00000199708.2 HBAT_HUMAN NM_005331 P09105 Q13723 Q1W6G5 uc002cfz.1 uc002cfz.2 uc002cfz.3 uc002cfz.4 uc002cfz.5 Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. [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 :: BC056686.1, CD580449.2 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA2145743, SAMEA2148093 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000199708.3/ ENSP00000199708.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## P09105; O43865: AHCYL1; NbExp=6; IntAct=EBI-10193656, EBI-2371423; P09105; P69905: HBA2; NbExp=3; IntAct=EBI-10193656, EBI-714680; P09105; P68871: HBB; NbExp=3; IntAct=EBI-10193656, EBI-715554; P09105; P02042: HBD; NbExp=6; IntAct=EBI-10193656, EBI-6152722; P09105; P02100: HBE1; NbExp=3; IntAct=EBI-10193656, EBI-6190240; P09105; P69892: HBG2; NbExp=3; IntAct=EBI-10193656, EBI-3910089; P09105; P02008: HBZ; NbExp=3; IntAct=EBI-10193656, EBI-719843; P09105; Q96HA8: NTAQ1; NbExp=3; IntAct=EBI-10193656, EBI-741158; P09105; Q8TAC1: RFESD; NbExp=9; IntAct=EBI-10193656, EBI-10271664; Belongs to the globin family. oxygen transporter activity iron ion binding protein binding 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 uc002cfz.1 uc002cfz.2 uc002cfz.3 uc002cfz.4 uc002cfz.5 
ENST00000199764.7 CEACAM6 ENST00000199764.7 Homo sapiens CEA cell adhesion molecule 6 (CEACAM6), mRNA. (from RefSeq NM_002483) CEAM6_HUMAN ENST00000199764.1 ENST00000199764.2 ENST00000199764.3 ENST00000199764.4 ENST00000199764.5 ENST00000199764.6 NCA NM_002483 P40199 Q13774 Q14920 Q53XP7 uc032hyc.1 uc032hyc.2 uc032hyc.3 This gene encodes a protein that belongs to the carcinoembryonic antigen (CEA) family whose members are glycosyl phosphatidyl inositol (GPI) anchored cell surface glycoproteins. Members of this family play a role in cell adhesion and are widely used as tumor markers in serum immunoassay determinations of carcinoma. This gene affects the sensitivity of tumor cells to adenovirus infection. The protein encoded by this gene acts as a receptor for adherent-invasive E. coli adhesion to the surface of ileal epithelial cells in patients with Crohn's disease. This gene is clustered with genes and pseudogenes of the cell adhesion molecules subgroup of the CEA family on chromosome 19. [provided by RefSeq, Apr 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 :: M18728.1, M18216.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000199764.7/ ENSP00000199764.6 RefSeq Select criteria :: based on expression, longest protein ##RefSeq-Attributes-END## Cell surface glycoprotein that plays a role in cell adhesion and tumor progression (PubMed:2803308, PubMed:2022629, PubMed:1378450, PubMed:8776764, PubMed:11590190, PubMed:10910050, PubMed:14724575, PubMed:16204051). Intercellular adhesion occurs in a calcium- and fibronectin-independent manner (PubMed:2022629, PubMed:16204051). Mediates homophilic and heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM5 and CEACAM8 (PubMed:2803308, PubMed:2022629, PubMed:8776764, PubMed:11590190, PubMed:16204051). Heterophilic interaction with CEACAM8 occurs in activated neutrophils (PubMed:8776764). Plays a role in neutrophil adhesion to cytokine-activated endothelial cells (PubMed:1378450). Plays a role as an oncogene by promoting tumor progression; positively regulates cell migration, cell adhesion to endothelial cells and cell invasion (PubMed:16204051). Also involved in the metastatic cascade process by inducing gain resistance to anoikis of pancreatic adenocarcinoma and colorectal carcinoma cells (PubMed:10910050, PubMed:14724575). Homodimer; homodimerizes via its Ig-like V-type domain. Heterodimer with CEACAM8; heterodimerizes via its Ig-like V-type domain. P40199; Q86U10: ASPG; NbExp=3; IntAct=EBI-4314501, EBI-19946665; P40199; Q16568: CARTPT; NbExp=3; IntAct=EBI-4314501, EBI-4314526; P40199; P13688: CEACAM1; NbExp=2; IntAct=EBI-4314501, EBI-4314481; P40199; P40199: CEACAM6; NbExp=6; IntAct=EBI-4314501, EBI-4314501; P40199; P31997: CEACAM8; NbExp=5; IntAct=EBI-4314501, EBI-4314540; P40199; Q99828: CIB1; NbExp=3; IntAct=EBI-4314501, EBI-372594; P40199; P33240: CSTF2; NbExp=3; IntAct=EBI-4314501, EBI-711360; P40199; Q86VI1: EXOC3L1; NbExp=3; IntAct=EBI-4314501, EBI-2813180; P40199; O75593: FOXH1; NbExp=3; IntAct=EBI-4314501, EBI-1759806; P40199; O75603: GCM2; NbExp=3; IntAct=EBI-4314501, EBI-10188645; P40199; O95872: GPANK1; NbExp=3; IntAct=EBI-4314501, EBI-751540; P40199; O14964: HGS; NbExp=3; IntAct=EBI-4314501, EBI-740220; P40199; Q9UM19: HPCAL4; NbExp=3; IntAct=EBI-4314501, EBI-744820; P40199; Q63ZY3: KANK2; NbExp=3; IntAct=EBI-4314501, EBI-2556193; P40199; Q4VC12: MSS51; NbExp=5; IntAct=EBI-4314501, EBI-11599933; P40199; Q9NP98: MYOZ1; NbExp=3; IntAct=EBI-4314501, EBI-744402; P40199; P78337: PITX1; NbExp=3; IntAct=EBI-4314501, EBI-748265; P40199; Q96HA1-2: POM121; NbExp=3; IntAct=EBI-4314501, EBI-11956563; P40199; Q2TAL8: QRICH1; NbExp=3; IntAct=EBI-4314501, EBI-2798044; P40199; Q9BQY4: RHOXF2; NbExp=3; IntAct=EBI-4314501, EBI-372094; P40199; Q92529: SHC3; NbExp=3; IntAct=EBI-4314501, EBI-79084; P40199; Q96GM5: SMARCD1; NbExp=3; IntAct=EBI-4314501, EBI-358489; P40199; O43711: TLX3; NbExp=3; IntAct=EBI-4314501, EBI-3939165; P40199; P22105-1: TNXB; NbExp=3; IntAct=EBI-4314501, EBI-20753895; P40199; Q9UHD9: UBQLN2; NbExp=5; IntAct=EBI-4314501, EBI-947187; P40199; O95231: VENTX; NbExp=3; IntAct=EBI-4314501, EBI-10191303; P40199; Q14119: VEZF1; NbExp=3; IntAct=EBI-4314501, EBI-11980193; P40199; Q9NZC7-5: WWOX; NbExp=3; IntAct=EBI-4314501, EBI-12040603; P40199; Q96E35: ZMYND19; NbExp=3; IntAct=EBI-4314501, EBI-746595; P40199; P36508: ZNF76; NbExp=3; IntAct=EBI-4314501, EBI-7254550; Cell membrane; Lipid-anchor, GPI-anchor Apical cell membrane Cell surface te=Localized to the apical glycocalyx surface. Expressed in neutrophils (PubMed:1378450). Expressed in columnar epithelial and goblet cells of the colon (PubMed:10436421). Expressed in numerous tumor cell lines (at protein level) (PubMed:16204051). Up-regulated in anoikis-resistant pancreatic adenocarcinoma cells (at protein level). The extracellular N-terminus Ig-like V-type domain is necessary for homophilic and heterophilic intercellular adhesion. Glycosylated. Belongs to the immunoglobulin superfamily. CEA family. protein binding extracellular space plasma membrane apoptotic process cell adhesion homophilic cell adhesion via plasma membrane adhesion molecules heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules signal transduction positive regulation of cell proliferation cell surface membrane apical plasma membrane positive regulation of cell migration anchored component of membrane positive regulation of heterotypic cell-cell adhesion azurophil granule membrane identical protein binding neutrophil degranulation protein heterodimerization activity leukocyte migration positive regulation of endothelial cell-matrix adhesion via fibronectin negative regulation of anoikis uc032hyc.1 uc032hyc.2 uc032hyc.3 
ENST00000199814.9 RBM22 ENST00000199814.9 Homo sapiens RNA binding motif protein 22 (RBM22), mRNA. (from RefSeq NM_018047) 199G4 A6NDM5 B4DLI9 ENST00000199814.1 ENST00000199814.2 ENST00000199814.3 ENST00000199814.4 ENST00000199814.5 ENST00000199814.6 ENST00000199814.7 ENST00000199814.8 NM_018047 O95607 Q9NW64 RBM22_HUMAN ZC3H16 uc003lst.1 uc003lst.2 uc003lst.3 uc003lst.4 uc003lst.5 This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq, Mar 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 :: AK001152.1, SRR3476690.115598.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000199814.9/ ENSP00000199814.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Required for pre-mRNA splicing as component of the activated spliceosome (PubMed:28502770, PubMed:28076346, PubMed:29361316, PubMed:29360106, PubMed:29301961, PubMed:30705154). Involved in the first step of pre-mRNA splicing. Binds directly to the internal stem- loop (ISL) domain of the U6 snRNA and to the pre-mRNA intron near the 5' splice site during the activation and catalytic phases of the spliceosome cycle. Involved in both translocations of the nuclear SLU7 to the cytoplasm and the cytosolic calcium-binding protein PDCD6 to the nucleus upon cellular stress responses. Component of the pre-catalytic and catalytic spliceosome complexes (PubMed:11991638, PubMed:28502770, PubMed:28076346, PubMed:29361316, PubMed:29360106, PubMed:29301961). Component of the postcatalytic spliceosome P complex (PubMed:30705154). Interacts with PDCD6; the interaction induces translocation of PDCD6 in the cytoplasm. Interacts with PPIL1 (PubMed:33220177). Q9NW64; Q53EZ4: CEP55; NbExp=6; IntAct=EBI-2602260, EBI-747776; Q9NW64; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-2602260, EBI-3867333; Q9NW64; O75420: GIGYF1; NbExp=3; IntAct=EBI-2602260, EBI-947774; Q9NW64; Q08379: GOLGA2; NbExp=3; IntAct=EBI-2602260, EBI-618309; Q9NW64; Q9NSC5: HOMER3; NbExp=3; IntAct=EBI-2602260, EBI-748420; Q9NW64; Q9NZQ3-3: NCKIPSD; NbExp=5; IntAct=EBI-2602260, EBI-10963850; Nucleus toplasm Note=Nearly exclusively nuclear. Translocated from the nucleus to the cytoplasm after heat shock cell treatment. May be shuttling between the nucleus and the cytosol. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NW64-1; Sequence=Displayed; Name=2; IsoId=Q9NW64-2; Sequence=VSP_036832; The C-terminal RRM domain and the zinc finger motif are necessary for RNA-binding. Belongs to the SLT11 family. Sequence=AAC99998.1; Type=Miscellaneous discrepancy; Note=Chimera.; Evidence=; mRNA splicing, via spliceosome Prp19 complex nucleic acid binding RNA binding protein binding nucleus nucleoplasm spliceosomal complex cytoplasm mRNA processing RNA splicing U6 snRNA binding positive regulation of RNA splicing cellular response to drug pre-mRNA binding positive regulation of protein import into nucleus mRNA cis splicing, via spliceosome positive regulation of protein export from nucleus metal ion binding calcium-dependent protein binding U2-type catalytic step 1 spliceosome U2-type catalytic step 2 spliceosome catalytic step 2 spliceosome uc003lst.1 uc003lst.2 uc003lst.3 uc003lst.4 uc003lst.5 
ENST00000199936.9 HSD17B2 ENST00000199936.9 Homo sapiens hydroxysteroid 17-beta dehydrogenase 2 (HSD17B2), mRNA. (from RefSeq NM_002153) B2R7T4 DHB2_HUMAN EDH17B2 ENST00000199936.1 ENST00000199936.2 ENST00000199936.3 ENST00000199936.4 ENST00000199936.5 ENST00000199936.6 ENST00000199936.7 ENST00000199936.8 HSD17B2 NM_002153 P37059 SDR9C2 uc002fgv.1 uc002fgv.2 uc002fgv.3 uc002fgv.4 uc002fgv.5 Catalyzes the NAD-dependent oxidation of the highly active 17beta-hydroxysteroids, such as estradiol (E2), testosterone (T), and dihydrotestosterone (DHT), to their less active forms and thus regulates the biological potency of these steroids. Oxidizes estradiol to estrone, testosterone to androstenedione, and dihydrotestosterone to 5alpha-androstan-3,17-dione. Also has 20-alpha-HSD activity. Reaction=17beta-estradiol + NAD(+) = estrone + H(+) + NADH; Xref=Rhea:RHEA:24612, ChEBI:CHEBI:15378, ChEBI:CHEBI:16469, ChEBI:CHEBI:17263, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.62; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:24613; Evidence=; Reaction=NAD(+) + testosterone = androst-4-ene-3,17-dione + H(+) + NADH; Xref=Rhea:RHEA:14929, ChEBI:CHEBI:15378, ChEBI:CHEBI:16422, ChEBI:CHEBI:17347, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=1.1.1.239; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:14930; Evidence=; Reaction=17beta-hydroxy-5alpha-androstan-3-one + NAD(+) = 5alpha- androstan-3,17-dione + H(+) + NADH; Xref=Rhea:RHEA:41992, ChEBI:CHEBI:15378, ChEBI:CHEBI:15994, ChEBI:CHEBI:16330, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence= Reaction=(20S)-hydroxypregn-4-en-3-one + NAD(+) = H(+) + NADH + progesterone; Xref=Rhea:RHEA:42108, ChEBI:CHEBI:15378, ChEBI:CHEBI:17026, ChEBI:CHEBI:28453, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; Evidence= Kinetic parameters: KM=0.21 uM for estradiol ; KM=0.39 uM for testosterone ; KM=0.31 uM for dihydrotestosterone ; KM=0.71 uM for 20-alpha-dihydroprogesterone ; KM=2.63 uM for androstenedione ; KM=0.78 uM for estrone ; KM=110 uM for NAD ; KM=9600 uM for NADP ; KM=0.35 uM for estradiol ; KM=0.61 uM for testosterone ; KM=0.25 uM for dihydrotestosterone ; KM=0.53 uM for 20-alpha-dihydroprogesterone ; Vmax=38 nmol/min/mg enzyme with estradiol as substrate ; Vmax=45 nmol/min/mg enzyme with testosterone as substrate ; Vmax=38 nmol/min/mg enzyme with dihydrotestosterone as substrate ; Vmax=5.6 nmol/min/mg enzyme with 20-alpha-dihydroprogesterone as substrate ; Vmax=6.6 nmol/min/mg enzyme with estrone as substrate ; Vmax=11.5 nmol/min/mg enzyme with androstenedione as substrate ; pH dependence: Optimum pH is 9 with testosterone and estradiol as substrates and 5.5 with androstenedione and estrone as substrates. ; Homodimer. Endoplasmic reticulum membrane ; Single-pass type II membrane protein Expressed in placenta. Belongs to the short-chain dehydrogenases/reductases (SDR) family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/hsd17b2/"; in utero embryonic development placenta development estradiol 17-beta-dehydrogenase activity endoplasmic reticulum membrane lipid metabolic process steroid biosynthetic process estrogen biosynthetic process membrane integral component of membrane oxidoreductase activity response to retinoic acid 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity testosterone dehydrogenase (NAD+) activity oxidation-reduction process uc002fgv.1 uc002fgv.2 uc002fgv.3 uc002fgv.4 uc002fgv.5 
ENST00000200135.8 ZW10 ENST00000200135.8 Homo sapiens zw10 kinetochore protein (ZW10), mRNA. (from RefSeq NM_004724) A1A528 ENST00000200135.1 ENST00000200135.2 ENST00000200135.3 ENST00000200135.4 ENST00000200135.5 ENST00000200135.6 ENST00000200135.7 NM_004724 O43264 ZW10_HUMAN uc001poe.1 uc001poe.2 uc001poe.3 uc001poe.4 uc001poe.5 This gene encodes a protein that is one of many involved in mechanisms to ensure proper chromosome segregation during cell division. This protein is an essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. [provided by RefSeq, Aug 2011]. 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 :: U54996.1, SRR1660809.133900.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000200135.8/ ENSP00000200135.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Essential component of the mitotic checkpoint, which prevents cells from prematurely exiting mitosis. Required for the assembly of the dynein-dynactin and MAD1-MAD2 complexes onto kinetochores. Its function related to the spindle assembly machinery is proposed to depend on its association in the mitotic RZZ complex (PubMed:11590237, PubMed:15485811, PubMed:15824131). Involved in regulation of membrane traffic between the Golgi and the endoplasmic reticulum (ER); the function is proposed to depend on its association in the interphase NRZ complex which is believed to play a role in SNARE assembly at the ER (PubMed:15029241). Interacts with NBAS and KNTC1/ROD; the interactions are mutually exclusive and indicative for its association in two different vesicle tethering complexes (PubMed:11590237, PubMed:15824131, PubMed:20462495). Component of the RZZ complex composed of KNTC1/ROD, ZW10 and ZWILCH (PubMed:12686595, PubMed:20462495). Component of the NRZ complex composed of NBAS, ZW10 and RINT1/TIP20L; NRZ associates with SNAREs STX18, USE1L, BNIP1/SEC20L and SEC22B (the assembly has been described as syntaxin 18 complex). Interacts directly with RINT1/TIP20L bound to BNIP1/SEC20L (PubMed:15029241, PubMed:15272311, PubMed:20462495, PubMed:19369418). Interacts with C19orf25 and ZWINT (PubMed:15485811, PubMed:15824131, PubMed:16732327). Interacts with ZFYVE1 (PubMed:30970241). Interacts with RAB18 and this interaction is enhanced in the presence of ZFYVE1 (PubMed:30970241). O43264; Q6NUQ1: RINT1; NbExp=16; IntAct=EBI-1001217, EBI-726876; O43264; O95229: ZWINT; NbExp=6; IntAct=EBI-1001217, EBI-1001132; Cytoplasm Endoplasmic reticulum membrane ; Peripheral membrane protein Chromosome, centromere, kinetochore toplasm, cytoskeleton, spindle Lipid droplet Note=Dynamic pattern of localization during the cell cycle. In most cells at interphase, present diffusely in the cytoplasm (PubMed:15029241). In prometaphase, associated with the kinetochore. At metaphase, detected both at the kinetochores and, most prominently, at the spindle, particularly at the spindle poles. In very early anaphase, detected on segregating kinetochores. In late anaphase and telophase, accumulates at the spindle midzone (PubMed:11590237). Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O43264-1; Sequence=Displayed; Name=2; IsoId=O43264-2; Sequence=VSP_056006; Widely expressed. No significant variation in expression during cell cycle. Overexpression as well as silencing of ZW10 disrupts the morphology of the ER-Golgi intermediate compartment as well as the Golgi apparatus and slows down ER-Golgi transport. Belongs to the ZW10 family. mitotic sister chromatid segregation establishment of mitotic spindle orientation mitotic cell cycle chromosome, centromeric region kinetochore condensed chromosome kinetochore spindle pole protein binding nucleus chromosome cytoplasm endoplasmic reticulum endoplasmic reticulum membrane spindle kinetochore microtubule cytosol cytoskeleton ER to Golgi vesicle-mediated transport retrograde vesicle-mediated transport, Golgi to ER Golgi organization cell cycle mitotic metaphase plate congression mitotic cell cycle checkpoint mitotic spindle assembly checkpoint regulation of exit from mitosis protein transport membrane vesicle-mediated transport centromeric DNA binding protein localization to kinetochore cell division meiotic cell cycle macromolecular complex assembly Dsl1/NZR complex RZZ complex uc001poe.1 uc001poe.2 uc001poe.3 uc001poe.4 uc001poe.5 
ENST00000200181.8 ITGB4 ENST00000200181.8 Homo sapiens integrin subunit beta 4 (ITGB4), transcript variant 1, mRNA. (from RefSeq NM_000213) A0AVL6 ENST00000200181.1 ENST00000200181.2 ENST00000200181.3 ENST00000200181.4 ENST00000200181.5 ENST00000200181.6 ENST00000200181.7 ITB4_HUMAN NM_000213 O14690 O14691 O15339 O15340 O15341 P16144 Q0VF97 Q9UIQ4 uc002jpg.1 uc002jpg.2 uc002jpg.3 uc002jpg.4 Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Integrin alpha-6/beta-4 is a receptor for laminin. Plays a critical structural role in the hemidesmosome of epithelial cells. Is required for the regulation of keratinocyte polarity and motility. ITGA6:ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling (PubMed:20682778). ITGA6:ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (PubMed:22351760). ITGA6:ITGB4 binds to IGF2 and this binding is essential for IGF2 signaling (PubMed:28873464). Heterodimer of an alpha and a beta subunit. Beta-4 associates with alpha-6. Interacts (via cytoplasmic region) with COL17A1 (via cytoplasmic region). Interacts (via cytoplasmic region) with DST isoform 3 (via N-terminus). Isoform beta-4a interacts (via cytoplasmic domain) with DST (via N-terminus). Interacts with RAC1. ITGA6:ITGB4 is found in a ternary complex with NRG1 and ERBB3 (PubMed:20682778). ITGA6:ITGB4 is found in a ternary complex with IGF1 and IGF1R (PubMed:22351760). ITGA6:ITGB4 interacts with IGF2 (PubMed:28873464). P16144; Q96B67: ARRDC3; NbExp=3; IntAct=EBI-948678, EBI-2875665; P16144; P23229: ITGA6; NbExp=5; IntAct=EBI-948678, EBI-2436548; P16144; Q15149: PLEC; NbExp=7; IntAct=EBI-948678, EBI-297903; P16144; Q05397: PTK2; NbExp=7; IntAct=EBI-948678, EBI-702142; P16144; O95136: S1PR2; NbExp=2; IntAct=EBI-948678, EBI-10634606; P16144; Q99500: S1PR3; NbExp=3; IntAct=EBI-948678, EBI-10634734; P16144; Q8R5M8-2: Cadm1; Xeno; NbExp=3; IntAct=EBI-948678, EBI-5651941; P16144; Q9QXS1-3: Plec; Xeno; NbExp=4; IntAct=EBI-948678, EBI-16145475; P16144-2; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-11051601, EBI-10173507; P16144-2; Q92624: APPBP2; NbExp=3; IntAct=EBI-11051601, EBI-743771; P16144-2; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-11051601, EBI-3867333; P16144-2; Q16610: ECM1; NbExp=3; IntAct=EBI-11051601, EBI-947964; P16144-2; P49639: HOXA1; NbExp=3; IntAct=EBI-11051601, EBI-740785; P16144-2; Q5T749: KPRP; NbExp=3; IntAct=EBI-11051601, EBI-10981970; P16144-2; Q15323: KRT31; NbExp=3; IntAct=EBI-11051601, EBI-948001; P16144-2; Q6A162: KRT40; NbExp=3; IntAct=EBI-11051601, EBI-10171697; P16144-2; Q07627: KRTAP1-1; NbExp=3; IntAct=EBI-11051601, EBI-11959885; P16144-2; Q8IUG1: KRTAP1-3; NbExp=3; IntAct=EBI-11051601, EBI-11749135; P16144-2; P60409: KRTAP10-7; NbExp=3; IntAct=EBI-11051601, EBI-10172290; P16144-2; P60410: KRTAP10-8; NbExp=3; IntAct=EBI-11051601, EBI-10171774; P16144-2; P60411: KRTAP10-9; NbExp=5; IntAct=EBI-11051601, EBI-10172052; P16144-2; P60328: KRTAP12-3; NbExp=3; IntAct=EBI-11051601, EBI-11953334; P16144-2; Q3LI76: KRTAP15-1; NbExp=3; IntAct=EBI-11051601, EBI-11992140; P16144-2; Q9BYP8: KRTAP17-1; NbExp=3; IntAct=EBI-11051601, EBI-11988175; P16144-2; Q9BYR9: KRTAP2-4; NbExp=3; IntAct=EBI-11051601, EBI-14065470; P16144-2; Q9BYR8: KRTAP3-1; NbExp=3; IntAct=EBI-11051601, EBI-9996449; P16144-2; Q9BYR5: KRTAP4-2; NbExp=3; IntAct=EBI-11051601, EBI-10172511; P16144-2; Q3LI66: KRTAP6-2; NbExp=3; IntAct=EBI-11051601, EBI-11962084; P16144-2; Q9BYQ4: KRTAP9-2; NbExp=3; IntAct=EBI-11051601, EBI-1044640; P16144-2; Q9BYQ3: KRTAP9-3; NbExp=3; IntAct=EBI-11051601, EBI-1043191; P16144-2; Q99750: MDFI; NbExp=3; IntAct=EBI-11051601, EBI-724076; P16144-2; Q9UJV3-2: MID2; NbExp=3; IntAct=EBI-11051601, EBI-10172526; P16144-2; Q5JR59-3: MTUS2; NbExp=3; IntAct=EBI-11051601, EBI-11522433; P16144-2; P13349: MYF5; NbExp=3; IntAct=EBI-11051601, EBI-17491620; P16144-2; P0DPK4: NOTCH2NLC; NbExp=3; IntAct=EBI-11051601, EBI-22310682; P16144-2; Q9NRQ2: PLSCR4; NbExp=3; IntAct=EBI-11051601, EBI-769257; P16144-2; Q16633: POU2AF1; NbExp=3; IntAct=EBI-11051601, EBI-943588; P16144-2; P22735: TGM1; NbExp=3; IntAct=EBI-11051601, EBI-2562368; P16144-2; Q15654: TRIP6; NbExp=3; IntAct=EBI-11051601, EBI-742327; Cell membrane; Single-pass type I membrane protein. Cell membrane; Lipid-anchor. Cell junction, hemidesmosome. Note=Colocalizes with DST at the leading edge of migrating keratinocytes. Event=Alternative splicing; Named isoforms=5; Name=Beta-4C; IsoId=P16144-1; Sequence=Displayed; Name=Beta-4A; IsoId=P16144-2; Sequence=VSP_002749; Name=Beta-4B; IsoId=P16144-3; Sequence=VSP_002749, VSP_002750; Name=Beta-4D; IsoId=P16144-4; Sequence=VSP_002749, VSP_002751; Name=Beta-4E; IsoId=P16144-5; Sequence=VSP_002747, VSP_002748; Integrin alpha-6/beta-4 is predominantly expressed by epithelia. Isoform beta-4D is also expressed in colon and placenta. Isoform beta-4E is also expressed in epidermis, lung, duodenum, heart, spleen and stomach. 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 fibronectin type-III-like domains bind BPAG1 and plectin and probably also recruit BP230. Palmitoylated by DHHC3 at several cysteines of the membrane- proximal region, enhancing stability and cell surface expression. Palmitoylation also promotes secondary association with tertaspanins. Epidermolysis bullosa, junctional 5A, intermediate (JEB5A) [MIM:619816]: A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB5A is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur. te=The disease is caused by variants affecting the gene represented in this entry. Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730]: A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB5B is an autosomal recessive, severe, frequently lethal form with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa. te=The disease is caused by variants affecting the gene represented in this entry. Belongs to the integrin beta chain family. Sequence=CAA37656.1; Type=Frameshift; Evidence=; G-protein coupled receptor binding integrin binding protein binding plasma membrane autophagy cell communication cell adhesion cell-matrix adhesion integrin-mediated signaling pathway integrin complex response to wounding cell surface membrane integral component of membrane cell migration cell junction hemidesmosome extracellular matrix organization cell leading edge hemidesmosome assembly cell adhesion mediated by integrin nail development receptor complex skin development mesodermal cell differentiation digestive tract development cell motility extracellular exosome renal system development amelogenesis insulin-like growth factor I binding neuregulin binding uc002jpg.1 uc002jpg.2 uc002jpg.3 uc002jpg.4 
ENST00000200453.6 PPP1R15A ENST00000200453.6 Homo sapiens protein phosphatase 1 regulatory subunit 15A (PPP1R15A), mRNA. (from RefSeq NM_014330) B4DKQ3 ENST00000200453.1 ENST00000200453.2 ENST00000200453.3 ENST00000200453.4 ENST00000200453.5 GADD34 NM_014330 O75807 PR15A_HUMAN Q6IA96 Q9NVU6 uc002pky.1 uc002pky.2 uc002pky.3 uc002pky.4 uc002pky.5 uc002pky.6 This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ionizing radiation occurs in certain cell lines regardless of p53 status, and its protein response is correlated with apoptosis following ionizing radiation. [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 :: AK225632.1, SRR1803612.227044.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on single protein-coding transcript regulatory uORF :: PMID: 19131336 ##RefSeq-Attributes-END## Recruits the serine/threonine-protein phosphatase PPP1CA to prevents excessive phosphorylation of the translation initiation factor eIF-2A/EIF2S1, thereby reversing the shut-off of protein synthesis initiated by stress-inducible kinases and facilitating recovery of cells from stress (PubMed:26742780, PubMed:26095357). Down-regulates the TGF-beta signaling pathway by promoting dephosphorylation of TGFB1 by PP1 (PubMed:14718519). May promote apoptosis by inducing p53/TP53 phosphorylation on 'Ser-15' (PubMed:14635196). Plays an essential role in autophagy by tuning translation during starvation, thus enabling lysosomal biogenesis and a sustained autophagic flux (PubMed:32978159). Acts also a viral restriction factor by attenuating HIV-1 replication (PubMed:31778897). Mechanistically, mediates the inhibition of HIV-1 TAR RNA-mediated translation (PubMed:31778897). (Microbial infection) Promotes enterovirus 71 replication by mediating the internal ribosome entry site (IRES) activity of viral 5'- UTR. Interacts with PPP1CA (PubMed:15705855, PubMed:26095357). Interacts with EIF2S1 (PubMed:26095357). Interacts with PCNA (By similarity). Interacts with LYN and KMT2A/MLL1 (PubMed:11517336). Interacts with PPP1R1A and SMARCB1 (PubMed:12016208). Interacts with SMAD7 (PubMed:14718519). Interacts with BAG1 (PubMed:12724406). Interacts with NOX4 (PubMed:26742780). (Microbial infection) Interacts with enterovirus 71/EV71 non- structural protein precursor 3CD; this interaction promotes EV71 replication. O75807; P56545: CTBP2; NbExp=2; IntAct=EBI-714746, EBI-741533; O75807; P62136: PPP1CA; NbExp=12; IntAct=EBI-714746, EBI-357253; O75807; Q13522: PPP1R1A; NbExp=4; IntAct=EBI-714746, EBI-1568511; O75807; Q13148: TARDBP; NbExp=10; IntAct=EBI-714746, EBI-372899; Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side Mitochondrion outer membrane; Peripheral membrane protein; Cytoplasmic side Note=Associates with membranes via an N-terminal amphipathic intramembrane region. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=O75807-1; Sequence=Displayed; Name=2; IsoId=O75807-2; Sequence=VSP_057083, VSP_057084; Specifically produced in response to stress: in absence of stress, some upstream open reading frame (uORF) of this transcript is translated, thereby preventing its translation (PubMed:19131336). By methyl methanesulfonate and ionizing irradiation (PubMed:9153226). By IL24/interleukin-24 in melanoma cells; which induces apoptosis (PubMed:10490642, PubMed:12114539). By viral infection including enterovirus 71/EV71 or HIV-1 (PubMed:34985336, PubMed:31778897). Phosphorylated at multiple Ser/Thr residues. Phosphorylated on tyrosine by LYN; which impairs its antiproliferative activity. Phosphorylation at Tyr-262 enhances proteasomal degradation, this position is dephosphorylated by PTPN2. Polyubiquitinated. Exhibits a rapid proteasomal degradation with a half-life under 1 hour, ubiquitination depends on endoplasmic reticulum association. The phosphatase activity of the PPP1R15A-PP1 complex toward EIF2S1 is specifically inhibited by Salubrinal, a drug that protects cells from endoplasmic reticulum stress. Belongs to the PPP1R15 family. protein phosphatase type 1 complex protein binding cytoplasm mitochondrion mitochondrial outer membrane endoplasmic reticulum endoplasmic reticulum membrane Golgi apparatus cytosol regulation of translation apoptotic process cellular response to DNA damage stimulus cell cycle arrest protein phosphatase 1 binding membrane protein phosphatase regulator activity protein kinase binding positive regulation of translational initiation in response to stress negative regulation of phosphoprotein phosphatase activity positive regulation of phosphoprotein phosphatase activity response to endoplasmic reticulum stress negative regulation of protein dephosphorylation regulation of translational initiation by eIF2 alpha dephosphorylation intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress protein localization to endoplasmic reticulum protein phosphatase activator activity positive regulation of peptidyl-serine dephosphorylation negative regulation of PERK-mediated unfolded protein response positive regulation of endoplasmic reticulum stress-induced eIF2 alpha dephosphorylation uc002pky.1 uc002pky.2 uc002pky.3 uc002pky.4 uc002pky.5 uc002pky.6 
ENST00000200457.9 TRIP6 ENST00000200457.9 Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA. (from RefSeq NM_003302) A4D2E7 ENST00000200457.1 ENST00000200457.2 ENST00000200457.3 ENST00000200457.4 ENST00000200457.5 ENST00000200457.6 ENST00000200457.7 ENST00000200457.8 F2ZC07 F2ZC08 NM_003302 O15170 O15275 OIP1 Q15654 Q9BTB2 Q9BUE5 Q9BXP3 Q9UNT4 TRIP6_HUMAN uc003uww.1 uc003uww.2 uc003uww.3 uc003uww.4 uc003uww.5 This gene is a member of the zyxin family and encodes a protein with three LIM zinc-binding domains. This protein localizes to focal adhesion sites and along actin stress fibers. Recruitment of this protein to the plasma membrane occurs in a lysophosphatidic acid (LPA)-dependent manner and it regulates LPA-induced cell migration. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [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 :: SRR3476690.193113.1, SRR3476690.676481.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000200457.9/ ENSP00000200457.4 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Relays signals from the cell surface to the nucleus to weaken adherens junction and promote actin cytoskeleton reorganization and cell invasiveness. Involved in lysophosphatidic acid-induced cell adhesion and migration. Acts as a transcriptional coactivator for NF- kappa-B and JUN, and mediates the transrepression of these transcription factors induced by glucocorticoid receptor. Specifically interacts with the ligand binding domain of the thyroid receptor (TR) in the presence of thyroid hormone (PubMed:14688263). Interacts (via the third LIM domain and C-terminus) with PTPN13 (via the second PDZ domain) (PubMed:10400701, PubMed:17591779, PubMed:19017743, PubMed:10826496). Interacts (via the second LIM domain or via the third LIM domain plus C-terminus) with PDLIM4 (via PDZ domain) (PubMed:10826496). Found in a complex with PTPN13 and PDLIM4 (By similarity). Interacts with SVIL isoform 2 (PubMed:16880273). Interacts with LPAR2 but not other LPA receptors (PubMed:14688263). Interacts with PRKAA2 (PubMed:16624523). Interacts with MAGI1 (PubMed:19017743). Interacts with SCRIB (PubMed:16137684). In case of infection, interacts with S.typhimurium protein sseI (PubMed:17095609). Q15654; Q9NYB9: ABI2; NbExp=5; IntAct=EBI-742327, EBI-743598; Q15654; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-742327, EBI-10173507; Q15654; P29972: AQP1; NbExp=7; IntAct=EBI-742327, EBI-745213; Q15654; P54259: ATN1; NbExp=2; IntAct=EBI-742327, EBI-945980; Q15654; P48047: ATP5PO; NbExp=3; IntAct=EBI-742327, EBI-355815; Q15654; P54253: ATXN1; NbExp=7; IntAct=EBI-742327, EBI-930964; Q15654; A0A0S2Z4M1: AXIN1; NbExp=3; IntAct=EBI-742327, EBI-16429430; Q15654; O15169: AXIN1; NbExp=6; IntAct=EBI-742327, EBI-710484; Q15654; O95817: BAG3; NbExp=3; IntAct=EBI-742327, EBI-747185; Q15654; Q9BXY8: BEX2; NbExp=3; IntAct=EBI-742327, EBI-745073; Q15654; Q13895: BYSL; NbExp=6; IntAct=EBI-742327, EBI-358049; Q15654; Q6NUJ2: C11orf87; NbExp=3; IntAct=EBI-742327, EBI-6660291; Q15654; Q8NEC5: CATSPER1; NbExp=7; IntAct=EBI-742327, EBI-744545; Q15654; Q96HB5: CCDC120; NbExp=3; IntAct=EBI-742327, EBI-744556; Q15654; Q8N4L8: CCDC24; NbExp=3; IntAct=EBI-742327, EBI-1104933; Q15654; Q8IYX8-2: CEP57L1; NbExp=3; IntAct=EBI-742327, EBI-10181988; Q15654; P26441: CNTF; NbExp=3; IntAct=EBI-742327, EBI-1050897; Q15654; Q02930-3: CREB5; NbExp=3; IntAct=EBI-742327, EBI-10192698; Q15654; P53673: CRYBA4; NbExp=3; IntAct=EBI-742327, EBI-7519711; Q15654; O75638: CTAG2; NbExp=4; IntAct=EBI-742327, EBI-10188927; Q15654; Q9NQL9: DMRT3; NbExp=3; IntAct=EBI-742327, EBI-9679045; Q15654; Q86UW9: DTX2; NbExp=3; IntAct=EBI-742327, EBI-740376; Q15654; Q5JVL4: EFHC1; NbExp=3; IntAct=EBI-742327, EBI-743105; Q15654; Q9UM22: EPDR1; NbExp=3; IntAct=EBI-742327, EBI-946972; Q15654; Q8N2X6: EXOC3-AS1; NbExp=4; IntAct=EBI-742327, EBI-749333; Q15654; Q8WU58: FAM222B; NbExp=3; IntAct=EBI-742327, EBI-2807642; Q15654; O95363: FARS2; NbExp=3; IntAct=EBI-742327, EBI-2513774; Q15654; P48023: FASLG; NbExp=3; IntAct=EBI-742327, EBI-495538; Q15654; Q9NU39: FOXD4L1; NbExp=3; IntAct=EBI-742327, EBI-11320806; Q15654; O43559: FRS3; NbExp=6; IntAct=EBI-742327, EBI-725515; Q15654; A0A0S2Z4D9: GAD1; NbExp=3; IntAct=EBI-742327, EBI-16430771; Q15654; P15976-2: GATA1; NbExp=4; IntAct=EBI-742327, EBI-9090198; Q15654; Q9HBR3: GDPD5; NbExp=3; IntAct=EBI-742327, EBI-10310206; Q15654; Q8NEA6-2: GLIS3; NbExp=3; IntAct=EBI-742327, EBI-12232117; Q15654; P04899: GNAI2; NbExp=3; IntAct=EBI-742327, EBI-353997; Q15654; Q9Y223-2: GNE; NbExp=3; IntAct=EBI-742327, EBI-11975289; Q15654; Q13227: GPS2; NbExp=3; IntAct=EBI-742327, EBI-713355; Q15654; Q14687: GSE1; NbExp=5; IntAct=EBI-742327, EBI-372619; Q15654; P08631-2: HCK; NbExp=3; IntAct=EBI-742327, EBI-9834454; Q15654; V9HWD0: HEL-S-42; NbExp=3; IntAct=EBI-742327, EBI-10330219; Q15654; P31269: HOXA9; NbExp=4; IntAct=EBI-742327, EBI-742314; Q15654; P17482: HOXB9; NbExp=3; IntAct=EBI-742327, EBI-745290; Q15654; P31273: HOXC8; NbExp=3; IntAct=EBI-742327, EBI-1752118; Q15654; P42858: HTT; NbExp=3; IntAct=EBI-742327, EBI-466029; Q15654; A0A0C4DGM4: HYKK; NbExp=3; IntAct=EBI-742327, EBI-10236738; Q15654; Q0VD86: INCA1; NbExp=3; IntAct=EBI-742327, EBI-6509505; Q15654; Q96PC2: IP6K3; NbExp=3; IntAct=EBI-742327, EBI-10990676; Q15654; P16144-2: ITGB4; NbExp=3; IntAct=EBI-742327, EBI-11051601; Q15654; Q7L273: KCTD9; NbExp=3; IntAct=EBI-742327, EBI-4397613; Q15654; Q99706: KIR2DL4; NbExp=3; IntAct=EBI-742327, EBI-10294579; Q15654; Q9H2R5: KLK15; NbExp=3; IntAct=EBI-742327, EBI-8645371; Q15654; Q5T749: KPRP; NbExp=3; IntAct=EBI-742327, EBI-10981970; Q15654; Q6PEX3: KRTAP26-1; NbExp=3; IntAct=EBI-742327, EBI-3957672; Q15654; P25791: LMO2; NbExp=3; IntAct=EBI-742327, EBI-739696; Q15654; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-742327, EBI-739832; Q15654; O60336: MAPKBP1; NbExp=3; IntAct=EBI-742327, EBI-947402; Q15654; Q9Y316: MEMO1; NbExp=3; IntAct=EBI-742327, EBI-1104564; Q15654; Q9H7H0: METTL17; NbExp=5; IntAct=EBI-742327, EBI-749353; Q15654; Q8IVT4: MGC50722; NbExp=3; IntAct=EBI-742327, EBI-14086479; Q15654; Q9BRT3: MIEN1; NbExp=3; IntAct=EBI-742327, EBI-6137472; Q15654; Q5JXC2: MIIP; NbExp=3; IntAct=EBI-742327, EBI-2801965; Q15654; Q8IVT2: MISP; NbExp=3; IntAct=EBI-742327, EBI-2555085; Q15654; Q8IXL7: MSRB3; NbExp=3; IntAct=EBI-742327, EBI-8634060; Q15654; O43639: NCK2; NbExp=8; IntAct=EBI-742327, EBI-713635; Q15654; Q14511: NEDD9; NbExp=3; IntAct=EBI-742327, EBI-2108053; Q15654; Q8WWR8-2: NEU4; NbExp=3; IntAct=EBI-742327, EBI-10277551; Q15654; Q6NSM0: NR1D2; NbExp=3; IntAct=EBI-742327, EBI-10250949; Q15654; Q6X4W1-2: NSMF; NbExp=3; IntAct=EBI-742327, EBI-12028784; Q15654; O43482: OIP5; NbExp=4; IntAct=EBI-742327, EBI-536879; Q15654; Q9BWI9: OTUB2; NbExp=3; IntAct=EBI-742327, EBI-10300896; Q15654; P32242: OTX1; NbExp=3; IntAct=EBI-742327, EBI-740446; Q15654; Q9HBE1-4: PATZ1; NbExp=3; IntAct=EBI-742327, EBI-11022007; Q15654; P09619: PDGFRB; NbExp=3; IntAct=EBI-742327, EBI-641237; Q15654; J3QSH9: PER1; NbExp=3; IntAct=EBI-742327, EBI-10178671; Q15654; Q96S52: PIGS; NbExp=3; IntAct=EBI-742327, EBI-2908273; Q15654; Q13526: PIN1; NbExp=3; IntAct=EBI-742327, EBI-714158; Q15654; Q494U1-3: PLEKHN1; NbExp=3; IntAct=EBI-742327, EBI-12014286; Q15654; Q96HA1-2: POM121; NbExp=3; IntAct=EBI-742327, EBI-11956563; Q15654; Q3SYA9: POM121L1P; NbExp=3; IntAct=EBI-742327, EBI-10241319; Q15654; Q96I34: PPP1R16A; NbExp=3; IntAct=EBI-742327, EBI-710402; Q15654; Q13131: PRKAA1; NbExp=3; IntAct=EBI-742327, EBI-1181405; Q15654; P54646: PRKAA2; NbExp=3; IntAct=EBI-742327, EBI-1383852; Q15654; Q15678: PTPN14; NbExp=3; IntAct=EBI-742327, EBI-1237156; Q15654; P54725: RAD23A; NbExp=3; IntAct=EBI-742327, EBI-746453; Q15654; Q86VV4: RANBP3L; NbExp=3; IntAct=EBI-742327, EBI-12028066; Q15654; P48380: RFX3; NbExp=3; IntAct=EBI-742327, EBI-742557; Q15654; P61586: RHOA; NbExp=3; IntAct=EBI-742327, EBI-446668; Q15654; Q63HN8-6: RNF213; NbExp=3; IntAct=EBI-742327, EBI-10248548; Q15654; Q8IYX7: SAXO1; NbExp=3; IntAct=EBI-742327, EBI-3957636; Q15654; P57086: SCAND1; NbExp=3; IntAct=EBI-742327, EBI-745846; Q15654; Q15047-3: SETDB1; NbExp=3; IntAct=EBI-742327, EBI-11149962; Q15654; Q6ZSJ9: SHISA6; NbExp=3; IntAct=EBI-742327, EBI-12037847; Q15654; Q9Y2K2-7: SIK3; NbExp=3; IntAct=EBI-742327, EBI-17172855; Q15654; Q05CH4: SLC15A3; NbExp=3; IntAct=EBI-742327, EBI-10223741; Q15654; P12236: SLC25A6; NbExp=3; IntAct=EBI-742327, EBI-356254; Q15654; Q9H0W8: SMG9; NbExp=3; IntAct=EBI-742327, EBI-2872322; Q15654; O95863: SNAI1; NbExp=4; IntAct=EBI-742327, EBI-1045459; Q15654; O75716: STK16; NbExp=3; IntAct=EBI-742327, EBI-749295; Q15654; Q9NU19: TBC1D22B; NbExp=3; IntAct=EBI-742327, EBI-8787464; Q15654; Q9Y4C2: TCAF1; NbExp=3; IntAct=EBI-742327, EBI-750484; Q15654; Q8WW24: TEKT4; NbExp=4; IntAct=EBI-742327, EBI-750487; Q15654; P35590: TIE1; NbExp=3; IntAct=EBI-742327, EBI-2256865; Q15654; Q08117-2: TLE5; NbExp=3; IntAct=EBI-742327, EBI-11741437; Q15654; Q0P5Q0: TMSB4X; NbExp=3; IntAct=EBI-742327, EBI-10226570; Q15654; Q5VU62: TPM3; NbExp=3; IntAct=EBI-742327, EBI-10184033; Q15654; O43734: TRAF3IP2; NbExp=3; IntAct=EBI-742327, EBI-744798; Q15654; Q9UL33: TRAPPC2L; NbExp=3; IntAct=EBI-742327, EBI-747601; Q15654; Q14134: TRIM29; NbExp=3; IntAct=EBI-742327, EBI-702370; Q15654; Q3SY00: TSGA10IP; NbExp=3; IntAct=EBI-742327, EBI-10241197; Q15654; Q96PN8: TSSK3; NbExp=3; IntAct=EBI-742327, EBI-3918381; Q15654; Q5W5X9-3: TTC23; NbExp=3; IntAct=EBI-742327, EBI-9090990; Q15654; Q6ZVT0: TTLL10; NbExp=3; IntAct=EBI-742327, EBI-7844656; Q15654; Q99757: TXN2; NbExp=3; IntAct=EBI-742327, EBI-2932492; Q15654; Q86UY0: TXNDC5; NbExp=3; IntAct=EBI-742327, EBI-2825190; Q15654; O75604: USP2; NbExp=3; IntAct=EBI-742327, EBI-743272; Q15654; Q6EMK4: VASN; NbExp=3; IntAct=EBI-742327, EBI-10249550; Q15654; Q06250: WT1-AS; NbExp=3; IntAct=EBI-742327, EBI-10223946; Q15654; Q8N4L5: XRCC6BP1; NbExp=3; IntAct=EBI-742327, EBI-10265517; Q15654; A2RRL9: ZBP1; NbExp=3; IntAct=EBI-742327, EBI-10173066; Q15654; Q15915: ZIC1; NbExp=3; IntAct=EBI-742327, EBI-11963196; Q15654; Q9H0D2: ZNF541; NbExp=3; IntAct=EBI-742327, EBI-3957075; Q15654; Q9UK33: ZNF580; NbExp=3; IntAct=EBI-742327, EBI-746277; Q15654; Q9P0T4: ZNF581; NbExp=3; IntAct=EBI-742327, EBI-745520; Q15654; A0A0S2Z5X4: ZNF688; NbExp=6; IntAct=EBI-742327, EBI-16429014; Q15654; A8K8V0: ZNF785; NbExp=3; IntAct=EBI-742327, EBI-3925400; Q15654; Q5W150; NbExp=3; IntAct=EBI-742327, EBI-10248148; Q15654; Q95HA4; NbExp=3; IntAct=EBI-742327, EBI-10236795; Q15654; P09022: Hoxa1; Xeno; NbExp=3; IntAct=EBI-742327, EBI-3957603; Q15654; O46385: SVIL; Xeno; NbExp=5; IntAct=EBI-742327, EBI-6995105; Cytoplasm, cytoskeleton Cell junction, focal adhesion Nucleus toplasm Note=Shuttles between nucleus and cytoplasm (PubMed:16624523). Colocalizes with actin (PubMed:10826496). Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q15654-1; Sequence=Displayed; Name=2; IsoId=Q15654-2; Sequence=VSP_047621, VSP_047624; Name=3; IsoId=Q15654-3; Sequence=VSP_047622, VSP_047623; Abundantly expressed in kidney, liver and lung. Lower levels in heart, placenta and pancreas. Expressed in colonic epithelial cells. Up-regulated in colonic tumors. The LIM zinc-binding domains mediate interaction with LPAR2 and with S.typhimurium protein sseI. Phosphorylation at Tyr-55 by SRC is required for enhancement of lysophosphatidic acid-induced cell migration. Tyr-55 is dephosphorylated by PTPN13. Belongs to the zyxin/ajuba family. Sequence=AAC41740.1; Type=Frameshift; Evidence=; stress fiber RNA binding interleukin-1 receptor binding protein binding nucleus cytoplasm cytosol cytoskeleton plasma membrane focal adhesion cell adhesion signal transduction kinase binding cell junction positive regulation of cell migration metal ion binding thyroid hormone receptor binding focal adhesion assembly positive regulation of NIK/NF-kappaB signaling uc003uww.1 uc003uww.2 uc003uww.3 uc003uww.4 uc003uww.5 
ENST00000200557.11 ADAM11 ENST00000200557.11 Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), transcript variant 1, mRNA. (from RefSeq NM_002390) ADA11_HUMAN ENST00000200557.1 ENST00000200557.10 ENST00000200557.2 ENST00000200557.3 ENST00000200557.4 ENST00000200557.5 ENST00000200557.6 ENST00000200557.7 ENST00000200557.8 ENST00000200557.9 MDC NM_002390 O75078 Q14808 Q14809 Q14810 uc002ihh.1 uc002ihh.2 uc002ihh.3 uc002ihh.4 uc002ihh.5 This gene encodes a member of the ADAM (a disintegrin and metalloprotease) protein family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. This gene represents a candidate tumor suppressor gene for human breast cancer based on its location within a minimal region of chromosome 17q21 previously defined by tumor deletion mapping. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]. Probable ligand for integrin in the brain. This is a non catalytic metalloprotease-like protein. Required for localization of the potassium channel subunit proteins KCNA1/KV1.1 and KCNA2/KV1.2 at cerebellar cortex basket cell distal terminals, is thereby involved in ephaptic inhibitory synchronization of Purkinje cell firing and response to stress (By similarity). Plays a role in spatial learning and motor coordination (By similarity). Involved in the nociceptive pain response to chemical-derived stimulation (By similarity). Interacts with LGI1 and LGI4 (By similarity). Interacts with KCNA1/KV1.1, KCNA2/KV1.2, DLG4/PSD-95 and ADAM22 (By similarity). Presynaptic cell membrane ; Single-pass type I membrane protein. Perikaryon Cell projection, axon Note=Localizes to basket cell terminals and pinceaux. Event=Alternative splicing; Named isoforms=2; Name=Long; Synonyms=MDC-769; IsoId=O75078-1; Sequence=Displayed; Name=Short; Synonyms=MDC-524; IsoId=O75078-2; Sequence=VSP_005472, VSP_005473, VSP_005474, VSP_005475; Expressed predominantly in brain. Slightly detected or not at all in other tissues. A conserved motif [AVN[ED]CD] within the disintegrin-like domain could be involved in the binding to the integrin receptor. The precursor is cleaved by a furin endopeptidase. [Isoform Short]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. metalloendopeptidase activity integrin binding plasma membrane proteolysis integrin-mediated signaling pathway metallopeptidase activity membrane integral component of membrane uc002ihh.1 uc002ihh.2 uc002ihh.3 uc002ihh.4 uc002ihh.5 
ENST00000200639.9 LAMP2 ENST00000200639.9 Homo sapiens lysosomal associated membrane protein 2 (LAMP2), transcript variant A, mRNA. (from RefSeq NM_002294) A8K4X5 D3DTF0 ENST00000200639.1 ENST00000200639.2 ENST00000200639.3 ENST00000200639.4 ENST00000200639.5 ENST00000200639.6 ENST00000200639.7 ENST00000200639.8 LAMP2_HUMAN NM_002294 P13473 Q16641 Q6Q3G8 Q96J30 Q99534 Q9UD93 uc004est.1 uc004est.2 uc004est.3 uc004est.4 uc004est.5 uc004est.6 The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]. Lysosomal membrane glycoprotein which plays an important role in lysosome biogenesis, lysosomal pH regulation and autophagy (PubMed:8662539, PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:27628032, PubMed:36586411, PubMed:37390818). 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 (PubMed:37390818). 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 (PubMed:8662539, PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:27628032, PubMed:36586411). Functions by binding target proteins, such as GAPDH, NLRP3 and MLLT11, and targeting them for lysosomal degradation (PubMed:8662539, PubMed:11082038, PubMed:18644871, PubMed:24880125, PubMed:36586411). 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 (PubMed:36586411). Plays a role in lysosomal protein degradation in response to starvation (By similarity). 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:27628032). 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 (PubMed:20518820, PubMed:15894275). Is not required for efficient MHC class II-mediated presentation of endogenous antigens (PubMed:20518820). [Isoform LAMP-2C]: Modulates chaperone-mediated autophagy. Decreases presentation of endogenous antigens by MHCII. Does not play a role in the presentation of exogenous and membrane-derived antigens by MHCII. (Microbial infection) Supports the FURIN-mediated cleavage of mumps virus fusion protein F by interacting with both FURIN and the unprocessed form but not the processed form of the viral protein F. Monomer (PubMed:18644871, PubMed:25342746). Homodimer (PubMed:25342746). Homotrimer (PubMed:25342746). Forms large homooligomers (PubMed:18644871). 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 (PubMed:36586411, PubMed:25342746). Interacts with HSP90 in the lysosome lumen; this enhances LAMP2 stability (By similarity). Interacts with MLLT11 (PubMed:24880125). Interacts with ABCB9 (PubMed:22641697). Interacts with FURIN (PubMed:32295904). Interacts with CT55; this interaction may be important for LAMP2 protein stability (PubMed:36481789). Interacts with TMEM175; inhibiting the proton channel activity of TMEM175 (PubMed:37390818). (Microbial infection) Interacts with mumps virus protein F; this interaction promotes protein F cleavage by FURIN. P13473-2; P45844-6: ABCG1; NbExp=3; IntAct=EBI-21591415, EBI-25873349; P13473-2; Q7Z5M8-2: ABHD12B; NbExp=3; IntAct=EBI-21591415, EBI-21854797; P13473-2; Q9Y614: ACTL7B; NbExp=3; IntAct=EBI-21591415, EBI-25835070; P13473-2; Q6DHV7-2: ADAL; NbExp=3; IntAct=EBI-21591415, EBI-18899653; P13473-2; Q6UY14-3: ADAMTSL4; NbExp=3; IntAct=EBI-21591415, EBI-10173507; P13473-2; Q96MA6: AK8; NbExp=3; IntAct=EBI-21591415, EBI-8466265; P13473-2; Q5T2L2: AKR1C8; NbExp=3; IntAct=EBI-21591415, EBI-22006248; P13473-2; Q96Q83-2: ALKBH3; NbExp=3; IntAct=EBI-21591415, EBI-9089544; P13473-2; Q9Y303-2: AMDHD2; NbExp=3; IntAct=EBI-21591415, EBI-12323557; P13473-2; Q9NU02: ANKEF1; NbExp=3; IntAct=EBI-21591415, EBI-8464238; P13473-2; P09525: ANXA4; NbExp=3; IntAct=EBI-21591415, EBI-2556852; P13473-2; P02647: APOA1; NbExp=3; IntAct=EBI-21591415, EBI-701692; P13473-2; P02749: APOH; NbExp=3; IntAct=EBI-21591415, EBI-2114682; P13473-2; P53365: ARFIP2; NbExp=3; IntAct=EBI-21591415, EBI-638194; P13473-2; Q66PJ3-4: ARL6IP4; NbExp=3; IntAct=EBI-21591415, EBI-5280499; P13473-2; Q6XD76: ASCL4; NbExp=3; IntAct=EBI-21591415, EBI-10254793; P13473-2; P18848: ATF4; NbExp=3; IntAct=EBI-21591415, EBI-492498; P13473-2; Q9H0Y0: ATG10; NbExp=3; IntAct=EBI-21591415, EBI-1048913; P13473-2; C1IDX9: ATG12; NbExp=3; IntAct=EBI-21591415, EBI-25836940; P13473-2; O75964: ATP5MG; NbExp=3; IntAct=EBI-21591415, EBI-1044001; P13473-2; Q14032: BAAT; NbExp=3; IntAct=EBI-21591415, EBI-8994378; P13473-2; P54687-4: BCAT1; NbExp=3; IntAct=EBI-21591415, EBI-25834445; P13473-2; P06276: BCHE; NbExp=3; IntAct=EBI-21591415, EBI-7936069; P13473-2; Q9NSI6-4: BRWD1; NbExp=3; IntAct=EBI-21591415, EBI-10693038; P13473-2; Q8WZ55: BSND; NbExp=3; IntAct=EBI-21591415, EBI-7996695; P13473-2; Q96Q07-2: BTBD9; NbExp=3; IntAct=EBI-21591415, EBI-22006737; P13473-2; Q9H0W9-3: C11orf54; NbExp=3; IntAct=EBI-21591415, EBI-12108466; P13473-2; Q9NQ89: C12orf4; NbExp=3; IntAct=EBI-21591415, EBI-11090973; P13473-2; Q13901: C1D; NbExp=3; IntAct=EBI-21591415, EBI-3844053; P13473-2; Q3SXR2: C3orf36; NbExp=3; IntAct=EBI-21591415, EBI-18036948; P13473-2; Q8N1A6: C4orf33; NbExp=3; IntAct=EBI-21591415, EBI-10264911; P13473-2; P17655: CAPN2; NbExp=3; IntAct=EBI-21591415, EBI-1028956; P13473-2; P20807-4: CAPN3; NbExp=3; IntAct=EBI-21591415, EBI-11532021; P13473-2; P55212: CASP6; NbExp=3; IntAct=EBI-21591415, EBI-718729; P13473-2; O00257-3: CBX4; NbExp=3; IntAct=EBI-21591415, EBI-4392727; P13473-2; P24863: CCNC; NbExp=3; IntAct=EBI-21591415, EBI-395261; P13473-2; Q9UK58-5: CCNL1; NbExp=3; IntAct=EBI-21591415, EBI-25873837; P13473-2; Q9NNX6-10: CD209; NbExp=3; IntAct=EBI-21591415, EBI-12300031; P13473-2; P01730: CD4; NbExp=3; IntAct=EBI-21591415, EBI-353826; P13473-2; Q9UJX2: CDC23; NbExp=3; IntAct=EBI-21591415, EBI-396137; P13473-2; P42773: CDKN2C; NbExp=3; IntAct=EBI-21591415, EBI-711290; P13473-2; O95674: CDS2; NbExp=3; IntAct=EBI-21591415, EBI-3913685; P13473-2; O15182: CETN3; NbExp=3; IntAct=EBI-21591415, EBI-712959; P13473-2; Q8WUX9: CHMP7; NbExp=3; IntAct=EBI-21591415, EBI-749253; P13473-2; Q9Y3D0: CIAO2B; NbExp=3; IntAct=EBI-21591415, EBI-744045; P13473-2; Q8N365: CIART; NbExp=3; IntAct=EBI-21591415, EBI-10265133; P13473-2; Q9UHD4: CIDEB; NbExp=3; IntAct=EBI-21591415, EBI-7062247; P13473-2; Q99966: CITED1; NbExp=3; IntAct=EBI-21591415, EBI-2624951; P13473-2; P09496-2: CLTA; NbExp=3; IntAct=EBI-21591415, EBI-4401010; P13473-2; Q6PJW8-3: CNST; NbExp=3; IntAct=EBI-21591415, EBI-25836090; P13473-2; Q96BR5: COA7; NbExp=3; IntAct=EBI-21591415, EBI-6269632; P13473-2; P02458-1: COL2A1; NbExp=3; IntAct=EBI-21591415, EBI-12375799; P13473-2; Q8NI60: COQ8A; NbExp=3; IntAct=EBI-21591415, EBI-745535; P13473-2; Q9UGL9: CRCT1; NbExp=3; IntAct=EBI-21591415, EBI-713677; P13473-2; P26998: CRYBB3; NbExp=3; IntAct=EBI-21591415, EBI-1965681; P13473-2; P35222: CTNNB1; NbExp=3; IntAct=EBI-21591415, EBI-491549; P13473-2; Q53TN4: CYBRD1; NbExp=3; IntAct=EBI-21591415, EBI-8637742; P13473-2; P10632: CYP2C8; NbExp=3; IntAct=EBI-21591415, EBI-2951522; P13473-2; P61962: DCAF7; NbExp=3; IntAct=EBI-21591415, EBI-359808; P13473-2; Q96LJ7: DHRS1; NbExp=3; IntAct=EBI-21591415, EBI-746300; P13473-2; O60479: DLX3; NbExp=3; IntAct=EBI-21591415, EBI-3908248; P13473-2; Q96EY1-3: DNAJA3; NbExp=3; IntAct=EBI-21591415, EBI-11526226; P13473-2; Q96KC8: DNAJC1; NbExp=3; IntAct=EBI-21591415, EBI-296550; P13473-2; Q92782-2: DPF1; NbExp=3; IntAct=EBI-21591415, EBI-23669343; P13473-2; Q9BPU6: DPYSL5; NbExp=3; IntAct=EBI-21591415, EBI-724653; P13473-2; Q658K8: EEF1DP3; NbExp=3; IntAct=EBI-21591415, EBI-10248874; P13473-2; O00303: EIF3F; NbExp=3; IntAct=EBI-21591415, EBI-711990; P13473-2; Q13347: EIF3I; NbExp=3; IntAct=EBI-21591415, EBI-354047; P13473-2; O00472: ELL2; NbExp=3; IntAct=EBI-21591415, EBI-395274; P13473-2; O00423: EML1; NbExp=3; IntAct=EBI-21591415, EBI-751327; P13473-2; O95278-6: EPM2A; NbExp=3; IntAct=EBI-21591415, EBI-25836908; P13473-2; Q6NXG1-3: ESRP1; NbExp=3; IntAct=EBI-21591415, EBI-21567429; P13473-2; P00748: F12; NbExp=3; IntAct=EBI-21591415, EBI-6378830; P13473-2; Q49AJ0-4: FAM135B; NbExp=3; IntAct=EBI-21591415, EBI-25835236; P13473-2; Q96KS9: FAM167A; NbExp=3; IntAct=EBI-21591415, EBI-10290462; P13473-2; Q8N128-2: FAM177A1; NbExp=3; IntAct=EBI-21591415, EBI-12201693; P13473-2; Q8IZU1: FAM9A; NbExp=3; IntAct=EBI-21591415, EBI-8468186; P13473-2; Q9NYY8: FASTKD2; NbExp=3; IntAct=EBI-21591415, EBI-1055752; P13473-2; P02671-2: FGA; NbExp=3; IntAct=EBI-21591415, EBI-9640259; P13473-2; Q6ZNL6: FGD5; NbExp=3; IntAct=EBI-21591415, EBI-7962481; P13473-2; Q9NSA1: FGF21; NbExp=3; IntAct=EBI-21591415, EBI-3909329; P13473-2; P49771-3: FLT3LG; NbExp=3; IntAct=EBI-21591415, EBI-25872794; P13473-2; Q3SYB3: FOXD4L6; NbExp=3; IntAct=EBI-21591415, EBI-6425864; P13473-2; Q6P7E6: FUT6; NbExp=3; IntAct=EBI-21591415, EBI-25872807; P13473-2; P06241: FYN; NbExp=3; IntAct=EBI-21591415, EBI-515315; P13473-2; Q06547-3: GABPB1; NbExp=3; IntAct=EBI-21591415, EBI-9088619; P13473-2; Q9H3K2: GHITM; NbExp=3; IntAct=EBI-21591415, EBI-2868909; P13473-2; Q8WWP7: GIMAP1; NbExp=3; IntAct=EBI-21591415, EBI-11991950; P13473-2; Q49A26-4: GLYR1; NbExp=3; IntAct=EBI-21591415, EBI-12143817; P13473-2; Q9HAV0: GNB4; NbExp=3; IntAct=EBI-21591415, EBI-358539; P13473-2; P32780: GTF2H1; NbExp=3; IntAct=EBI-21591415, EBI-715539; P13473-2; O75409: H2AP; NbExp=3; IntAct=EBI-21591415, EBI-6447217; P13473-2; Q6NXT2: H3-5; NbExp=3; IntAct=EBI-21591415, EBI-2868501; P13473-2; P68431: H3C12; NbExp=3; IntAct=EBI-21591415, EBI-79722; P13473-2; Q9BT25: HAUS8; NbExp=3; IntAct=EBI-21591415, EBI-2558143; P13473-2; Q9NRZ9-6: HELLS; NbExp=3; IntAct=EBI-21591415, EBI-12003732; P13473-2; Q96EW2-2: HSPBAP1; NbExp=3; IntAct=EBI-21591415, EBI-25835621; P13473-2; Q8N6M8-2: IQCF1; NbExp=3; IntAct=EBI-21591415, EBI-21771049; P13473-2; Q92613: JADE3; NbExp=3; IntAct=EBI-21591415, EBI-10278909; P13473-2; P0C870: JMJD7; NbExp=3; IntAct=EBI-21591415, EBI-9090173; P13473-2; Q9UK76: JPT1; NbExp=3; IntAct=EBI-21591415, EBI-720411; P13473-2; Q8N5Z5: KCTD17; NbExp=3; IntAct=EBI-21591415, EBI-743960; P13473-2; Q8TBB5-2: KLHDC4; NbExp=3; IntAct=EBI-21591415, EBI-21838933; P13473-2; Q9UH77: KLHL3; NbExp=3; IntAct=EBI-21591415, EBI-8524663; P13473-2; Q8N4N3-2: KLHL36; NbExp=3; IntAct=EBI-21591415, EBI-10973851; P13473-2; Q8N1A0: KRT222; NbExp=3; IntAct=EBI-21591415, EBI-8473062; P13473-2; Q6DKI2: LGALS9C; NbExp=3; IntAct=EBI-21591415, EBI-9088829; P13473-2; Q9H2C1: LHX5; NbExp=3; IntAct=EBI-21591415, EBI-25835523; P13473-2; Q8N0U6: LINC00518; NbExp=3; IntAct=EBI-21591415, EBI-10264791; P13473-2; Q9Y234: LIPT1; NbExp=3; IntAct=EBI-21591415, EBI-727376; P13473-2; Q99732: LITAF; NbExp=3; IntAct=EBI-21591415, EBI-725647; P13473-2; Q1L5Z9: LONRF2; NbExp=3; IntAct=EBI-21591415, EBI-2510853; P13473-2; Q96JB6: LOXL4; NbExp=3; IntAct=EBI-21591415, EBI-749562; P13473-2; Q8IYG6: LRRC56; NbExp=3; IntAct=EBI-21591415, EBI-14752528; P13473-2; Q5VYH9: LY9; NbExp=3; IntAct=EBI-21591415, EBI-25872860; P13473-2; P0DP58-2: LYNX1; NbExp=3; IntAct=EBI-21591415, EBI-21916939; P13473-2; P43361: MAGEA8; NbExp=3; IntAct=EBI-21591415, EBI-10182930; P13473-2; Q96M61: MAGEB18; NbExp=3; IntAct=EBI-21591415, EBI-741835; P13473-2; Q969L2: MAL2; NbExp=3; IntAct=EBI-21591415, EBI-944295; P13473-2; P27338: MAOB; NbExp=3; IntAct=EBI-21591415, EBI-3911344; P13473-2; Q8NI22: MCFD2; NbExp=3; IntAct=EBI-21591415, EBI-2689785; P13473-2; A6NJ78-4: METTL15; NbExp=3; IntAct=EBI-21591415, EBI-10174029; P13473-2; A0A0A0MR05: MLST8; NbExp=3; IntAct=EBI-21591415, EBI-25835557; P13473-2; P34949-2: MPI; NbExp=3; IntAct=EBI-21591415, EBI-21823432; P13473-2; Q9BV20: MRI1; NbExp=3; IntAct=EBI-21591415, EBI-747381; P13473-2; Q6IN84-2: MRM1; NbExp=3; IntAct=EBI-21591415, EBI-25835707; P13473-2; Q8N387: MUC15; NbExp=3; IntAct=EBI-21591415, EBI-17937277; P13473-2; A2RUH7: MYBPHL; NbExp=3; IntAct=EBI-21591415, EBI-9088235; P13473-2; P01106: MYC; NbExp=3; IntAct=EBI-21591415, EBI-447544; P13473-2; Q9H7X0: NAA60; NbExp=3; IntAct=EBI-21591415, EBI-12260336; P13473-2; Q15742-2: NAB2; NbExp=3; IntAct=EBI-21591415, EBI-25834665; P13473-2; Q9UJ70-2: NAGK; NbExp=3; IntAct=EBI-21591415, EBI-11526455; P13473-2; Q69YL0: NCBP2AS2; NbExp=3; IntAct=EBI-21591415, EBI-10986258; P13473-2; P25208: NFYB; NbExp=3; IntAct=EBI-21591415, EBI-389728; P13473-2; Q8NDH3-5: NPEPL1; NbExp=3; IntAct=EBI-21591415, EBI-12329915; P13473-2; O15130-2: NPFF; NbExp=3; IntAct=EBI-21591415, EBI-25840002; P13473-2; P36639-4: NUDT1; NbExp=3; IntAct=EBI-21591415, EBI-25834643; P13473-2; Q8NFH4: NUP37; NbExp=3; IntAct=EBI-21591415, EBI-2563158; P13473-2; Q8NFH3: NUP43; NbExp=3; IntAct=EBI-21591415, EBI-1059321; P13473-2; Q7Z3B4: NUP54; NbExp=3; IntAct=EBI-21591415, EBI-741048; P13473-2; Q6N063-2: OGFOD2; NbExp=3; IntAct=EBI-21591415, EBI-22006224; P13473-2; Q6GQQ9-2: OTUD7B; NbExp=3; IntAct=EBI-21591415, EBI-25830200; P13473-2; Q99447: PCYT2; NbExp=3; IntAct=EBI-21591415, EBI-750317; P13473-2; P27815-4: PDE4A; NbExp=3; IntAct=EBI-21591415, EBI-12080840; P13473-2; A5PLL7: PEDS1; NbExp=3; IntAct=EBI-21591415, EBI-11337896; P13473-2; Q9BUL5: PHF23; NbExp=3; IntAct=EBI-21591415, EBI-722852; P13473-2; Q00169: PITPNA; NbExp=3; IntAct=EBI-21591415, EBI-1042490; P13473-2; P48739: PITPNB; NbExp=3; IntAct=EBI-21591415, EBI-1047143; P13473-2; Q58EX7-2: PLEKHG4; NbExp=3; IntAct=EBI-21591415, EBI-21503705; P13473-2; O60664: PLIN3; NbExp=3; IntAct=EBI-21591415, EBI-725795; P13473-2; Q14181: POLA2; NbExp=3; IntAct=EBI-21591415, EBI-712752; P13473-2; P0DPB6: POLR1D; NbExp=3; IntAct=EBI-21591415, EBI-359498; P13473-2; P36954: POLR2I; NbExp=3; IntAct=EBI-21591415, EBI-395202; P13473-2; Q07869: PPARA; NbExp=3; IntAct=EBI-21591415, EBI-78615; P13473-2; O60927: PPP1R11; NbExp=3; IntAct=EBI-21591415, EBI-1048104; P13473-2; Q6ZMI0-5: PPP1R21; NbExp=3; IntAct=EBI-21591415, EBI-25835994; P13473-2; Q8NCQ7-2: PROCA1; NbExp=3; IntAct=EBI-21591415, EBI-25836043; P13473-2; P23942: PRPH2; NbExp=3; IntAct=EBI-21591415, EBI-25836834; P13473-2; P41222: PTGDS; NbExp=3; IntAct=EBI-21591415, EBI-948821; P13473-2; P29074: PTPN4; NbExp=3; IntAct=EBI-21591415, EBI-710431; P13473-2; Q8WUD1-2: RAB2B; NbExp=3; IntAct=EBI-21591415, EBI-25835884; P13473-2; Q5R372-9: RABGAP1L; NbExp=3; IntAct=EBI-21591415, EBI-10699389; P13473-2; Q9HD47-3: RANGRF; NbExp=3; IntAct=EBI-21591415, EBI-9089733; P13473-2; Q09028: RBBP4; NbExp=3; IntAct=EBI-21591415, EBI-620823; P13473-2; Q14498: RBM39; NbExp=3; IntAct=EBI-21591415, EBI-395290; P13473-2; Q96HR9-2: REEP6; NbExp=3; IntAct=EBI-21591415, EBI-14065960; P13473-2; Q04206: RELA; NbExp=3; IntAct=EBI-21591415, EBI-73886; P13473-2; P47804-3: RGR; NbExp=3; IntAct=EBI-21591415, EBI-25834767; P13473-2; Q15382: RHEB; NbExp=4; IntAct=EBI-21591415, EBI-1055287; P13473-2; Q9NPQ8-4: RIC8A; NbExp=3; IntAct=EBI-21591415, EBI-9091816; P13473-2; Q06587: RING1; NbExp=3; IntAct=EBI-21591415, EBI-752313; P13473-2; Q8N5U6: RNF10; NbExp=3; IntAct=EBI-21591415, EBI-714023; P13473-2; Q96IZ7: RSRC1; NbExp=3; IntAct=EBI-21591415, EBI-712189; P13473-2; Q66K80: RUSC1-AS1; NbExp=3; IntAct=EBI-21591415, EBI-10248967; P13473-2; O15126: SCAMP1; NbExp=3; IntAct=EBI-21591415, EBI-954338; P13473-2; P22307-3: SCP2; NbExp=3; IntAct=EBI-21591415, EBI-25834804; P13473-2; Q9BRK5: SDF4; NbExp=3; IntAct=EBI-21591415, EBI-1389808; P13473-2; Q9NTN9-3: SEMA4G; NbExp=3; IntAct=EBI-21591415, EBI-9089805; P13473-2; P01011: SERPINA3; NbExp=3; IntAct=EBI-21591415, EBI-296557; P13473-2; Q9BWM7: SFXN3; NbExp=4; IntAct=EBI-21591415, EBI-1171999; P13473-2; Q9NR46: SH3GLB2; NbExp=3; IntAct=EBI-21591415, EBI-749607; P13473-2; Q9BZQ2: SHCBP1L; NbExp=3; IntAct=EBI-21591415, EBI-10818532; P13473-2; O60902-3: SHOX2; NbExp=3; IntAct=EBI-21591415, EBI-9092164; P13473-2; O43772: SLC25A20; NbExp=3; IntAct=EBI-21591415, EBI-727085; P13473-2; Q8IYM2: SLFN12; NbExp=3; IntAct=EBI-21591415, EBI-2822550; P13473-2; Q86US8: SMG6; NbExp=3; IntAct=EBI-21591415, EBI-3232100; P13473-2; Q96EX1: SMIM12; NbExp=3; IntAct=EBI-21591415, EBI-2874543; P13473-2; P37840: SNCA; NbExp=3; IntAct=EBI-21591415, EBI-985879; P13473-2; Q96H20: SNF8; NbExp=3; IntAct=EBI-21591415, EBI-747719; P13473-2; Q8N0X7: SPART; NbExp=3; IntAct=EBI-21591415, EBI-2643803; P13473-2; Q496A3: SPATS1; NbExp=3; IntAct=EBI-21591415, EBI-3923692; P13473-2; Q9NYA1-2: SPHK1; NbExp=3; IntAct=EBI-21591415, EBI-12512419; P13473-2; Q9BPZ2: SPIN2B; NbExp=3; IntAct=EBI-21591415, EBI-21726245; P13473-2; Q9P2T0: SPMAP2; NbExp=3; IntAct=EBI-21591415, EBI-751020; P13473-2; Q9C004: SPRY4; NbExp=3; IntAct=EBI-21591415, EBI-354861; P13473-2; Q96BD6: SPSB1; NbExp=3; IntAct=EBI-21591415, EBI-2659201; P13473-2; Q9BXA5: SUCNR1; NbExp=3; IntAct=EBI-21591415, EBI-17962797; P13473-2; Q92797-2: SYMPK; NbExp=3; IntAct=EBI-21591415, EBI-21560407; P13473-2; O60506-4: SYNCRIP; NbExp=3; IntAct=EBI-21591415, EBI-11123832; P13473-2; P08247: SYP; NbExp=3; IntAct=EBI-21591415, EBI-9071725; P13473-2; Q17RD7: SYT16; NbExp=3; IntAct=EBI-21591415, EBI-10238936; P13473-2; O95947: TBX6; NbExp=3; IntAct=EBI-21591415, EBI-2824328; P13473-2; O15273: TCAP; NbExp=3; IntAct=EBI-21591415, EBI-954089; P13473-2; Q86WV5: TEN1; NbExp=3; IntAct=EBI-21591415, EBI-2562799; P13473-2; P54274-2: TERF1; NbExp=3; IntAct=EBI-21591415, EBI-711018; P13473-2; P22735: TGM1; NbExp=3; IntAct=EBI-21591415, EBI-2562368; P13473-2; O43548: TGM5; NbExp=3; IntAct=EBI-21591415, EBI-12027348; P13473-2; Q9NQ88: TIGAR; NbExp=3; IntAct=EBI-21591415, EBI-3920747; P13473-2; O14925: TIMM23; NbExp=3; IntAct=EBI-21591415, EBI-1047996; P13473-2; Q12893: TMEM115; NbExp=3; IntAct=EBI-21591415, EBI-8633987; P13473-2; Q8WVE6-2: TMEM171; NbExp=3; IntAct=EBI-21591415, EBI-25874374; P13473-2; Q3YBM2: TMEM176B; NbExp=3; IntAct=EBI-21591415, EBI-2821479; P13473-2; Q53NU3: tmp_locus_54; NbExp=3; IntAct=EBI-21591415, EBI-10242677; P13473-2; Q9NS69: TOMM22; NbExp=3; IntAct=EBI-21591415, EBI-1047508; P13473-2; P04637: TP53; NbExp=3; IntAct=EBI-21591415, EBI-366083; P13473-2; Q12888: TP53BP1; NbExp=3; IntAct=EBI-21591415, EBI-396540; P13473-2; O00463: TRAF5; NbExp=3; IntAct=EBI-21591415, EBI-523498; P13473-2; P36406: TRIM23; NbExp=3; IntAct=EBI-21591415, EBI-740098; P13473-2; Q9C035-3: TRIM5; NbExp=3; IntAct=EBI-21591415, EBI-12840050; P13473-2; Q86WT6-2: TRIM69; NbExp=3; IntAct=EBI-21591415, EBI-11525489; P13473-2; Q9H313-4: TTYH1; NbExp=3; IntAct=EBI-21591415, EBI-17671298; P13473-2; Q9BQE3: TUBA1C; NbExp=3; IntAct=EBI-21591415, EBI-1103245; P13473-2; P49459: UBE2A; NbExp=3; IntAct=EBI-21591415, EBI-2339348; P13473-2; P62253: UBE2G1; NbExp=3; IntAct=EBI-21591415, EBI-2340619; P13473-2; P09936: UCHL1; NbExp=3; IntAct=EBI-21591415, EBI-714860; P13473-2; Q9P1Q0-4: VPS54; NbExp=3; IntAct=EBI-21591415, EBI-25835297; P13473-2; Q9NX94: WBP1L; NbExp=3; IntAct=EBI-21591415, EBI-10316321; P13473-2; Q6ICG8: WBP2NL; NbExp=3; IntAct=EBI-21591415, EBI-17769315; P13473-2; Q8NA23-2: WDR31; NbExp=3; IntAct=EBI-21591415, EBI-25835937; P13473-2; Q9BQA1: WDR77; NbExp=3; IntAct=EBI-21591415, EBI-1237307; P13473-2; O00755: WNT7A; NbExp=3; IntAct=EBI-21591415, EBI-727198; P13473-2; O95070: YIF1A; NbExp=3; IntAct=EBI-21591415, EBI-2799703; P13473-2; Q8IWT0-2: ZBTB8OS; NbExp=3; IntAct=EBI-21591415, EBI-12956041; P13473-2; Q53FD0-2: ZC2HC1C; NbExp=3; IntAct=EBI-21591415, EBI-14104088; P13473-2; Q05CR2: ZNF248; NbExp=3; IntAct=EBI-21591415, EBI-25835471; P13473-2; Q96JL9-2: ZNF333; NbExp=3; IntAct=EBI-21591415, EBI-25835852; P13473-2; Q96LX8: ZNF597; NbExp=3; IntAct=EBI-21591415, EBI-9091553; P13473-2; Q3KNS6-3: ZNF829; NbExp=3; IntAct=EBI-21591415, EBI-18036029; P13473-2; Q5JTY5: ZNG1C; NbExp=3; IntAct=EBI-21591415, EBI-723434; P13473-2; A0A384MDV8; NbExp=3; IntAct=EBI-21591415, EBI-25834468; P13473-2; B7Z3E8; NbExp=3; IntAct=EBI-21591415, EBI-25831617; P13473-2; Q86V28; NbExp=3; IntAct=EBI-21591415, EBI-10259496; Lysosome membrane ingle-pass type I membrane protein Endosome membrane ; Single-pass type I membrane protein ll membrane ; Single-pass type I membrane protein toplasmic vesicle, autophagosome membrane Note=This protein shuttles between lysosomes, endosomes, and the plasma membrane. Event=Alternative splicing; Named isoforms=3; Name=LAMP-2A; IsoId=P13473-1; Sequence=Displayed; Name=LAMP-2B; IsoId=P13473-2; Sequence=VSP_003044; Name=LAMP-2C; IsoId=P13473-3; Sequence=VSP_042519; Isoform LAMP-2A is highly expressed in placenta, lung and liver, less in kidney and pancreas, low in brain and skeletal muscle (PubMed:7488019, PubMed:26856698). Isoform LAMP-2B is detected in spleen, thymus, prostate, testis, small intestine, colon, skeletal muscle, brain, placenta, lung, kidney, ovary and pancreas and liver (PubMed:7488019, PubMed:26856698). Isoform LAMP-2C is detected in small intestine, colon, heart, brain, skeletal muscle, and at lower levels in kidney and placenta (PubMed:26856698). In peripheral blood B cells isoform LAMP-2A, LAMP-2B and LAMP-2C are up-regulated in response to treatments that stimulate immune responses via the Toll-like receptors TLR7 or TLR9. O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans. Danon disease (DAND) [MIM:300257]: DAND is a lysosomal glycogen storage disease characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and intellectual disability. It is often associated with an accumulation of glycogen in muscle and lysosomes. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the LAMP family. autophagosome membrane platelet degranulation 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 protein import enzyme binding protein domain specific binding phagocytic vesicle membrane platelet dense granule membrane negative regulation of protein complex assembly cytoplasmic vesicle regulation of protein stability late endosome membrane azurophil granule membrane lysosomal lumen neutrophil degranulation autolysosome membrane raft 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 ficolin-1-rich granule membrane lysosomal protein catabolic process lysosomal matrix membrane microdomain uc004est.1 uc004est.2 uc004est.3 uc004est.4 uc004est.5 uc004est.6 
ENST00000200652.4 SLC22A4 ENST00000200652.4 Homo sapiens solute carrier family 22 member 4 (SLC22A4), mRNA. (from RefSeq NM_003059) ENST00000200652.1 ENST00000200652.2 ENST00000200652.3 ETT NM_003059 O14546 OCTN1 Q9H015 S22A4_HUMAN SLC22A4 UT2H uc003kwq.1 uc003kwq.2 uc003kwq.3 uc003kwq.4 uc003kwq.5 Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [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 :: SRR1803613.246404.1, SRR3476690.258062.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000200652.4/ ENSP00000200652.3 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transporter that mediates the transport of endogenous and microbial zwitterions and organic cations (PubMed:15795384, PubMed:10215651, PubMed:16729965, PubMed:20601551, PubMed:22569296, PubMed:29530864, PubMed:15107849, PubMed:22206629). Functions as a Na(+)-dependent and pH-dependent high affinity microbial symporter of potent food-derived antioxidant ergothioeine (PubMed:15795384, PubMed:29530864, PubMed:33124720). 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). Also mediates the bidirectional transport of acetycholine, although the exact transport mechanism has not been fully identified yet (PubMed:22206629). Most likely exports anti-inflammatory acetylcholine in non-neuronal tissues, thereby contributing to the non- neuronal cholinergic system (PubMed:22569296, PubMed:22206629). 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:15795384, PubMed:22206629). May also function as a low-affinity Na(+)-dependent transporter of L-carnitine through the mitochondrial membrane, thereby maintaining intracellular carnitine homeostasis (PubMed:10215651, PubMed:16729965, PubMed:15107849). May contribute to regulate the transport of cationic compounds in testis across the blood-testis- barrier (PubMed:35307651). 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= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:74664; Evidence=; PhysiologicalDirection=right-to-left; Xref=Rhea:RHEA:74665; 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=21 uM for ergothioneine (at pH 7.4) ; KM=1000 uM for acetylcholine(in) (at pH 8.0) ; KM=780 uM for acetylcholine(out) (at pH 8.0) ; KM=422.5 uM for (R)-carnitine (at pH 7.5) ; KM=571 uM for (R)-carnitine ; Vmax=42000 pmol/min/mg enzyme for ergothioneine uptake (at pH 7.4) ; Vmax=160000 pmol/min/mg enzyme for acetylcholine uptake (at pH 8.0) ; Vmax=14000 pmol/min/mg enzyme for acetylcholine export (at pH 8.0) ; Vmax=22.61 pmol/min/mg enzyme for (R)-carnitine uptake (at pH 7.5) ; Vmax=883 pmol/min/mg enzyme for (R)-carnitine uptake ; pH dependence: Optimum pH is 6.5-7.0 for ergothioneine uptake and transport efficiency decreased at more alkaline pHs. ; Interacts with PDZK1. Apical cell membrane ; Multi-pass membrane protein Basal cell membrane ; Multi-pass membrane protein Mitochondrion membrane ; Multi-pass membrane protein Note=Localized to the apical membrane of small intestines (PubMed:20601551). Localized to the basal membrane of Sertoli cells (PubMed:35307651). Widely expressed (PubMed:9426230). Highly expressed in kidney, trachea, ileum, bone marrow and whole blood (PubMed:9426230, PubMed:15795384). Expressed in small intestines (PubMed:20601551). Weakly expressed in skeletal muscle, prostate, lung, pancreas, placenta, heart, uterus, spleen and spinal cord (PubMed:9426230, PubMed:15795384, PubMed:16729965). Expressed in testis, primarily to the basal membrane of Sertoli cells (PubMed:35307651, PubMed:16729965). Expressed in brain (PubMed:16729965). Expressed in liver (PubMed:16729965). Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells (PubMed:15107849). Predominantly expressed in CD14 cells in peripheral blood mononuclear cells (PubMed:14608356). Expressed in fetal liver, kidney and lung (PubMed:9426230, PubMed:15795384). Overexpressed upon TNF treatment. Rheumatoid arthritis (RA) [MIM:180300]: An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. 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. Despite a previous report demonstrating SLC22A4/OCTN1-mediated transport of nucleosides such as the endogenous 2'deoxycytidine or the anticancer drug cytarabine, another study was unable to verify these findings. nucleotide binding protein binding ATP binding mitochondrion plasma membrane integral component of plasma membrane triglyceride metabolic process ion transport sodium ion transport body fluid secretion secondary active organic cation transmembrane transporter activity carnitine metabolic process carnitine transmembrane transporter activity symporter activity cation:cation antiporter activity quaternary ammonium group transmembrane transporter activity organic cation transport 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 uc003kwq.1 uc003kwq.2 uc003kwq.3 uc003kwq.4 uc003kwq.5 
ENST00000200676.8 CETP ENST00000200676.8 Homo sapiens cholesteryl ester transfer protein (CETP), transcript variant 1, mRNA. (from RefSeq NM_000078) CETP CETP_HUMAN ENST00000200676.1 ENST00000200676.2 ENST00000200676.3 ENST00000200676.4 ENST00000200676.5 ENST00000200676.6 ENST00000200676.7 NM_000078 P11597 Q13987 Q13988 Q53YZ1 uc002eki.1 uc002eki.2 uc002eki.3 uc002eki.4 The protein encoded by this gene is found in plasma, where it is involved in the transfer of cholesteryl ester from high density lipoprotein (HDL) to other lipoproteins. Defects in this gene are a cause of hyperalphalipoproteinemia 1 (HALP1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]. Involved in the transfer of neutral lipids, including cholesteryl ester and triglyceride, among lipoprotein particles. Allows the net movement of cholesteryl ester from high density lipoproteins/HDL to triglyceride-rich very low density lipoproteins/VLDL, and the equimolar transport of triglyceride from VLDL to HDL (PubMed:3600759, PubMed:24293641, PubMed:3281933). Regulates the reverse cholesterol transport, by which excess cholesterol is removed from peripheral tissues and returned to the liver for elimination (PubMed:17237796). Reaction=cholesteryl (9Z-octadecenoate)(in) = cholesteryl (9Z- octadecenoate)(out); Xref=Rhea:RHEA:43348, ChEBI:CHEBI:46898; Evidence=; Reaction=1,2,3-tri-(9Z-octadecenoyl)-glycerol(in) = 1,2,3-tri-(9Z- octadecenoyl)-glycerol(out); Xref=Rhea:RHEA:43352, ChEBI:CHEBI:53753; Evidence=; Reaction=cholesteryl (9Z,12Z)-octadecadienoate(in) = cholesteryl (9Z,12Z)-octadecadienoate(out); Xref=Rhea:RHEA:43356, ChEBI:CHEBI:41509; Evidence=; Secreted te=Secreted in plasma. Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P11597-1; Sequence=Displayed; Name=2; IsoId=P11597-2; Sequence=VSP_023645; Expressed by the liver and secreted in plasma. Genetic variations in CETP define the high density lipoprotein cholesterol level quantitative trait locus 10 (HDLCQ10) [MIM:143470]. Hyperalphalipoproteinemia 1 (HALP1) [MIM:143470]: A condition characterized by high levels of high density lipoprotein (HDL) and increased HDL cholesterol levels. te=The disease is caused by variants affecting the gene represented in this entry. Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family. Name=Wikipedia; Note=Cholesterylester transfer protein entry; URL="https://en.wikipedia.org/wiki/Cholesterylester_transfer_protein"; lipid transporter activity phospholipid transporter activity extracellular region extracellular space lipid metabolic process triglyceride metabolic process lipid transport steroid metabolic process cholesterol metabolic process lipid binding negative regulation of macrophage derived foam cell differentiation regulation of cholesterol efflux cholesterol binding phospholipid transport triglyceride binding cholesterol transport phosphatidylcholine binding vesicle triglyceride transport high-density lipoprotein particle very-low-density lipoprotein particle remodeling low-density lipoprotein particle remodeling high-density lipoprotein particle remodeling cholesterol homeostasis reverse cholesterol transport phosphatidylcholine metabolic process lipid homeostasis phospholipid homeostasis extracellular exosome triglyceride homeostasis uc002eki.1 uc002eki.2 uc002eki.3 uc002eki.4 
ENST00000200691.5 MT3 ENST00000200691.5 Homo sapiens metallothionein 3 (MT3), mRNA. (from RefSeq NM_005954) ENST00000200691.1 ENST00000200691.2 ENST00000200691.3 ENST00000200691.4 MT3_HUMAN NM_005954 P25713 Q2V574 uc002ejf.1 uc002ejf.2 uc002ejf.3 uc002ejf.4 uc002ejf.5 This gene is a member of the metallothionein family of genes. Proteins encoded by this gene family are low in molecular weight, are cysteine-rich, lack aromatic residues, and bind divalent heavy metal ions. This gene family member displays tissue-specific expression, and contains a threonine insert near its N-terminus and a glutamate-rich hexapeptide insert near its C-terminus relative to the proteins encoded by other gene family members. It plays an important role in zinc and copper homeostasis, and is induced under hypoxic conditions. The encoded protein is a growth inhibitory factor, and reduced levels of the protein are observed in the brains of individuals with some metal-linked neurodegenerative disorders such as Alzheimer's disease. [provided by RefSeq, Sep 2017]. 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 :: BP211991.1, CK001163.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1966682, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000200691.5/ ENSP00000200691.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Binds heavy metals. Contains three zinc and three copper atoms per polypeptide chain and only a negligible amount of cadmium. Inhibits survival and neurite formation of cortical neurons in vitro. P25713; Q9NYB0: TERF2IP; NbExp=2; IntAct=EBI-8084264, EBI-750109; P25713; P02766: TTR; NbExp=3; IntAct=EBI-8084264, EBI-711909; Abundant in a subset of astrocytes in the normal human brain, but greatly reduced in the Alzheimer disease (AD) brain. Belongs to the metallothionein superfamily. Type 1 family. Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mt3/"; response to hypoxia positive regulation of protein phosphorylation copper ion binding protein binding extracellular space nucleus cytoplasm mitochondrial outer membrane rough endoplasmic reticulum cytosol ribosome microtubule plasma membrane energy reserve metabolic process cholesterol catabolic process zinc II ion transport cellular metal ion homeostasis cellular zinc ion homeostasis apoptotic process response to oxidative stress brain development synaptic vesicle drug binding zinc ion binding response to metal ion detoxification of copper ion negative regulation of autophagy positive regulation of gene expression positive regulation of necrotic cell death positive regulation of cell death negative regulation of neuron projection development astrocyte development postsynaptic density antioxidant activity inclusion body histone modification removal of superoxide radicals protein kinase activator activity negative regulation of cell growth axon negative regulation of axon extension positive regulation of vascular endothelial growth factor receptor signaling pathway regulation of response to food activation of protein kinase B activity leptin-mediated signaling pathway cellular response to oxidative stress cellular response to drug positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress cysteine-type endopeptidase inhibitor activity involved in apoptotic process negative regulation of apoptotic process positive regulation of catalytic activity negative regulation of cysteine-type endopeptidase activity involved in apoptotic process dendritic spine protein kinase B signaling negative regulation of neuron apoptotic process cellular lipid catabolic process negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated cadmium ion binding metal ion binding perinuclear region of cytoplasm negative regulation of neurogenesis protein stabilization negative regulation of oxidoreductase activity zinc ion homeostasis cadmium ion homeostasis regulation of protein glycosylation negative regulation of necrotic cell death ERK1 and ERK2 cascade positive regulation of ERK1 and ERK2 cascade cellular response to cadmium ion cellular response to copper ion cellular response to zinc ion cellular response to hypoxia cellular response to nitric oxide positive regulation of lysosomal membrane permeability astrocyte projection astrocyte end-foot negative regulation of neuron death negative regulation of cysteine-type endopeptidase activity negative regulation of hydrogen peroxide catabolic process positive regulation of oxygen metabolic process negative regulation of reactive oxygen species metabolic process uc002ejf.1 uc002ejf.2 uc002ejf.3 uc002ejf.4 uc002ejf.5 
ENST00000201031.3 TFAP2C ENST00000201031.3 Homo sapiens transcription factor AP-2 gamma (TFAP2C), mRNA. (from RefSeq NM_003222) AP2C_HUMAN B4DWK3 ENST00000201031.1 ENST00000201031.2 NM_003222 O00685 O00730 Q86V30 Q8IVB6 Q92754 Q9P1X2 uc002xya.1 uc002xya.2 uc002xya.3 uc002xya.4 uc002xya.5 The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [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 :: BC051829.1, U85658.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968832, SAMEA1968968 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000201031.3/ ENSP00000201031.2 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. Involved in the MTA1-mediated epigenetic regulation of ESR1 expression in breast cancer. Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members (By similarity). Interacts with WWOX. Interacts with CITED4. Interacts with UBE2I. Interacts with KCTD1; this interaction represses transcription activation. Interacts with CITED2 (via C-terminus); the interaction stimulates TFAP2B-transcriptional activity. Interacts with MTA1. Q92754; Q99967: CITED2; NbExp=2; IntAct=EBI-937309, EBI-937732; Q92754; P63279: UBE2I; NbExp=5; IntAct=EBI-937309, EBI-80168; Nucleus Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q92754-1; Sequence=Displayed; Name=2; IsoId=Q92754-2; Sequence=VSP_056501; During retinoic acid-mediated differentiation. The PPxY motif mediates interaction with WWOX. Sumoylated on Lys-10; which inhibits transcriptional activity. Belongs to the AP-2 family. Name=Wikipedia; Note=Activating protein 2 entry; URL="https://en.wikipedia.org/wiki/Activating_protein_2"; negative regulation of transcription from RNA polymerase II promoter 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 repressor activity, RNA polymerase II transcription regulatory region sequence-specific 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 nucleoplasm mitochondrion cytosol regulation of transcription, DNA-templated regulation of transcription from RNA polymerase II promoter cell-cell signaling male gonad development regulation of gene expression, epigenetic positive regulation of transcription from RNA polymerase II promoter protein dimerization activity uc002xya.1 uc002xya.2 uc002xya.3 uc002xya.4 uc002xya.5 
ENST00000201586.7 SULT2B1 ENST00000201586.7 Homo sapiens sulfotransferase family 2B member 1 (SULT2B1), transcript variant 2, mRNA. (from RefSeq NM_177973) ENST00000201586.1 ENST00000201586.2 ENST00000201586.3 ENST00000201586.4 ENST00000201586.5 ENST00000201586.6 HSST2 NM_177973 O00204 O00205 O75814 ST2B1_HUMAN uc002pjl.1 uc002pjl.2 uc002pjl.3 uc002pjl.4 uc002pjl.5 Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]. Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation. Responsible for the sulfation of cholesterol (PubMed:19589875, PubMed:12145317). Catalyzes sulfation of the 3beta-hydroxyl groups of steroids, such as, pregnenolone and dehydroepiandrosterone (DHEA) (PubMed:9799594, PubMed:12145317, PubMed:21855633, PubMed:16855051). Preferentially sulfonates cholesterol, while it has also significant activity with pregnenolone and DHEA (PubMed:12145317, PubMed:21855633). Plays a role in epidermal cholesterol metabolism and in the regulation of epidermal proliferation and differentiation (PubMed:28575648). [Isoform 2]: Sulfonates pregnenolone but not cholesterol. Reaction=3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'- bisphosphate + an alkyl sulfate + H(+); Xref=Rhea:RHEA:22552, ChEBI:CHEBI:15378, ChEBI:CHEBI:30879, ChEBI:CHEBI:58339, ChEBI:CHEBI:58343, ChEBI:CHEBI:83414; EC=2.8.2.2; Evidence= Reaction=3'-phosphoadenylyl sulfate + 3beta-hydroxyandrost-5-en-17-one = adenosine 3',5'-bisphosphate + dehydroepiandrosterone 3-sulfate + H(+); Xref=Rhea:RHEA:51216, ChEBI:CHEBI:15378, ChEBI:CHEBI:28689, ChEBI:CHEBI:57905, ChEBI:CHEBI:58339, ChEBI:CHEBI:58343; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:51217; Evidence=; Reaction=(24S)-hydroxycholesterol + 3'-phosphoadenylyl sulfate = (24S)- hydroxycholesterol 3-sulfate + adenosine 3',5'-bisphosphate + H(+); Xref=Rhea:RHEA:52348, ChEBI:CHEBI:15378, ChEBI:CHEBI:34310, ChEBI:CHEBI:58339, ChEBI:CHEBI:58343, ChEBI:CHEBI:136567; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:52349; Evidence=; Reaction=3'-phosphoadenylyl sulfate + cholesterol = adenosine 3',5'- bisphosphate + cholesterol sulfate + H(+); Xref=Rhea:RHEA:52368, ChEBI:CHEBI:15378, ChEBI:CHEBI:16113, ChEBI:CHEBI:58339, ChEBI:CHEBI:58343, ChEBI:CHEBI:136579; Evidence=; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:52369; Evidence=; Reaction=3'-phosphoadenylyl sulfate + pregnenolone = adenosine 3',5'- bisphosphate + H(+) + pregnenolone sulfate; Xref=Rhea:RHEA:52356, ChEBI:CHEBI:15378, ChEBI:CHEBI:16581, ChEBI:CHEBI:58339, ChEBI:CHEBI:58343, ChEBI:CHEBI:133000; Evidence= PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:52357; Evidence=; Kinetic parameters: KM=23.5 uM for (24S)-hydroxycholesterol ; KM=10.9 uM for DHEA (at 37 degrees Celsius, in the presence of 1 mM MgCl2) ; KM=3.8 uM for DHEA (at 37 degrees Celsius, in the presence of 10 mM MgCl2) ; KM=11.8 uM for pregnenolone (at 37 degrees Celsius, in the presence of 1 mM MgCl2) ; KM=0.6 uM for PAPS (at 37 degrees Celsius, in the presence of 1 mM MgCl2) ; Vmax=1752 pmol/min/mg enzyme toward DHEA (at 37 degrees Celsius, in the presence of 10 mM MgCl2) ; Temperature dependence: Optimum temperature is 37 degrees Celsius. Retains 70% and 20% of activity when incubated at 42 degrees Celsius for 45 and 120 minutes, respectively. Activity is lost after 200 minutes incubation at 42 degrees Celsius. O00204; P14621: ACYP2; NbExp=3; IntAct=EBI-749441, EBI-10198377; O00204; Q96D03: DDIT4L; NbExp=3; IntAct=EBI-749441, EBI-742054; O00204; Q96Q35: FLACC1; NbExp=8; IntAct=EBI-749441, EBI-750451; O00204; Q96Q35-2: FLACC1; NbExp=8; IntAct=EBI-749441, EBI-11533409; O00204; Q9P2G9-2: KLHL8; NbExp=3; IntAct=EBI-749441, EBI-11959635; O00204; O43900: PRICKLE3; NbExp=3; IntAct=EBI-749441, EBI-1751761; O00204; Q04864-2: REL; NbExp=3; IntAct=EBI-749441, EBI-10829018; O00204; O76094: SRP72; NbExp=3; IntAct=EBI-749441, EBI-1058850; O00204; P50225: SULT1A1; NbExp=7; IntAct=EBI-749441, EBI-2814403; O00204; O43704: SULT1B1; NbExp=9; IntAct=EBI-749441, EBI-10179062; O00204; Q6IMI6: SULT1C3; NbExp=3; IntAct=EBI-749441, EBI-12837366; O00204; Q6ZNH5: ZNF497; NbExp=3; IntAct=EBI-749441, EBI-10486136; Cytoplasm, cytosol crosome cleus te=Phosphorylation of Ser-348 is required for translocation to the nucleus. Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=SULT2B1b, B; IsoId=O00204-1; Sequence=Displayed; Name=2; Synonyms=SULT2B1a, A; IsoId=O00204-2; Sequence=VSP_012510; Expressed in the stratum granulosum-stratum corneum junction in the skin (at protein level) (PubMed:28575648). Expressed highly in placenta, prostate and trachea and lower expression in the small intestine and lung (PubMed:9799594). The C-terminus, which contains a proline/serine-rich region is involved in nuclear translocation and enzymatic thermostability. Phosphorylated. Ichthyosis, congenital, autosomal recessive 14 (ARCI14) [MIM:617571]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non- bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. Note=The disease is caused by variants affecting the gene represented in this entry. Belongs to the sulfotransferase 1 family. sulfate assimilation nucleic acid binding alcohol sulfotransferase activity protein binding nucleus cytoplasm endoplasmic reticulum cytosol lipid metabolic process sulfotransferase activity steroid metabolic process cholesterol metabolic process negative regulation of cell proliferation cholesterol binding transferase activity intracellular membrane-bounded organelle positive regulation of epidermal cell differentiation steroid sulfotransferase activity 3'-phosphoadenosine 5'-phosphosulfate metabolic process extracellular exosome steroid hormone binding uc002pjl.1 uc002pjl.2 uc002pjl.3 uc002pjl.4 uc002pjl.5 
ENST00000201647.11 EPS8L1 ENST00000201647.11 Homo sapiens EPS8 like 1 (EPS8L1), transcript variant 1, mRNA. (from RefSeq NM_133180) DRC3 ENST00000201647.1 ENST00000201647.10 ENST00000201647.2 ENST00000201647.3 ENST00000201647.4 ENST00000201647.5 ENST00000201647.6 ENST00000201647.7 ENST00000201647.8 ENST00000201647.9 EPS8R1 ES8L1_HUMAN NM_133180 PP10566 Q71RE2 Q8NC10 Q8TE68 Q96BB7 Q9BSQ2 Q9GZQ2 Q9NXH0 uc002qis.1 uc002qis.2 uc002qis.3 uc002qis.4 uc002qis.5 uc002qis.6 This gene encodes a protein that is related to epidermal growth factor receptor pathway substrate 8 (EPS8), a substrate for the epidermal growth factor receptor. The function of this protein is unknown. At least two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton. Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Associates with F-actin. Q8TE68; Q9H013: ADAM19; NbExp=2; IntAct=EBI-7487998, EBI-8567699; Q8TE68; P07766: CD3E; NbExp=6; IntAct=EBI-7487998, EBI-1211297; Q8TE68; Q9NYB0: TERF2IP; NbExp=2; IntAct=EBI-7487998, EBI-750109; Q8TE68-2; Q9NYB9-2: ABI2; NbExp=3; IntAct=EBI-12003490, EBI-11096309; Q8TE68-2; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-12003490, EBI-3867333; Q8TE68-3; P28799: GRN; NbExp=3; IntAct=EBI-21574901, EBI-747754; Q8TE68-3; P42858: HTT; NbExp=3; IntAct=EBI-21574901, EBI-466029; Q8TE68-3; O43933: PEX1; NbExp=3; IntAct=EBI-21574901, EBI-988601; Q8TE68-3; O76024: WFS1; NbExp=3; IntAct=EBI-21574901, EBI-720609; Cytoplasm Event=Alternative splicing; Named isoforms=4; Name=1; Synonyms=A; IsoId=Q8TE68-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q8TE68-2; Sequence=VSP_019083, VSP_019085; Name=3; Synonyms=C; IsoId=Q8TE68-3; Sequence=VSP_019084, VSP_019088, VSP_019089; Name=4; IsoId=Q8TE68-4; Sequence=VSP_019082, VSP_019086, VSP_019087, VSP_019088; Detected in placenta. Belongs to the EPS8 family. Sequence=AAG03038.1; Type=Frameshift; Evidence=; Sequence=AAG03039.1; Type=Erroneous gene model prediction; Evidence=; actin binding protein binding cytoplasm cytosol plasma membrane Rho protein signal transduction ruffle membrane macromolecular complex regulation of Rho protein signal transduction T cell receptor binding cadherin binding extracellular exosome positive regulation of ruffle assembly Rho guanyl-nucleotide exchange factor activity Rac guanyl-nucleotide exchange factor activity uc002qis.1 uc002qis.2 uc002qis.3 uc002qis.4 uc002qis.5 uc002qis.6 
ENST00000201979.3 REM1 ENST00000201979.3 Homo sapiens RRAD and GEM like GTPase 1 (REM1), mRNA. (from RefSeq NM_014012) E1P5L1 ENST00000201979.1 ENST00000201979.2 GES NM_014012 O75628 Q5TZR7 Q5TZR8 Q9NP57 REM REM1_HUMAN uc002wwa.1 uc002wwa.2 uc002wwa.3 uc002wwa.4 uc002wwa.5 uc002wwa.6 The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.462911.1, AF152863.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000201979.3/ ENSP00000201979.2 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Promotes endothelial cell sprouting and actin cytoskeletal reorganization. May be involved in angiogenesis. May function in Ca(2+) signaling. In vitro, interacts with calmodulin in a calcium-dependent manner. Most highly expressed in the endothelial lining of the blood vessels in uterus and heart. Lower levels found in spleen, lymph node, kidney and testis. Also found in cells with secretory function such as the islets of Langerhans, lobule/duct epithelium in the breast, bile duct epithelium in the liver, surface epithelium in the endometrial glands of the uterus, colon mucosa and acinar cells in the pancreas and the prostate. Belongs to the small GTPase superfamily. RGK family. nucleotide binding GTPase activity calcium channel regulator activity calmodulin binding GTP binding plasma membrane signal transduction membrane negative regulation of high voltage-gated calcium channel activity uc002wwa.1 uc002wwa.2 uc002wwa.3 uc002wwa.4 uc002wwa.5 uc002wwa.6 
ENST00000202017.6 PDRG1 ENST00000202017.6 Homo sapiens p53 and DNA damage regulated 1 (PDRG1), mRNA. (from RefSeq NM_030815) B2R511 C20orf126 ENST00000202017.1 ENST00000202017.2 ENST00000202017.3 ENST00000202017.4 ENST00000202017.5 NM_030815 PDRG PDRG1_HUMAN Q96GP3 Q9BUW8 Q9NUG6 uc002wxd.1 uc002wxd.2 uc002wxd.3 uc002wxd.4 uc002wxd.5 May play a role in chaperone-mediated protein folding. 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. Q9NUG6; Q8TAP6: CEP76; NbExp=3; IntAct=EBI-307050, EBI-742887; Q9NUG6; Q9UHV9: PFDN2; NbExp=2; IntAct=EBI-307050, EBI-359873; Cytoplasm Predominantly expressed in normal testis and exhibits reduced but detectable expression in other organs. By UV irradiation and repressed by p53/TP53. Belongs to the prefoldin subunit beta family. protein binding cytoplasm protein folding prefoldin complex unfolded protein binding uc002wxd.1 uc002wxd.2 uc002wxd.3 uc002wxd.4 uc002wxd.5 
ENST00000202556.14 PPP1R13B ENST00000202556.14 Homo sapiens protein phosphatase 1 regulatory subunit 13B (PPP1R13B), mRNA. (from RefSeq NM_015316) ASPP1 ASPP1_HUMAN B2RMX5 ENST00000202556.1 ENST00000202556.10 ENST00000202556.11 ENST00000202556.12 ENST00000202556.13 ENST00000202556.2 ENST00000202556.3 ENST00000202556.4 ENST00000202556.5 ENST00000202556.6 ENST00000202556.7 ENST00000202556.8 ENST00000202556.9 KIAA0771 NM_015316 O94870 Q96KQ4 uc001yof.1 uc001yof.2 uc001yof.3 This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. ASPP proteins are required for the induction of apoptosis by p53-family proteins. They promote DNA binding and transactivation of p53-family proteins on the promoters of proapoptotic genes. Expression of this gene is regulated by the E2F transcription factor. [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 :: BC035446.1, AJ318887.2 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000202556.14/ ENSP00000202556.9 RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## Regulator that plays a central role in regulation of apoptosis via its interaction with p53/TP53 (PubMed:11684014, PubMed:12524540). Regulates TP53 by enhancing the DNA binding and transactivation function of TP53 on the promoters of proapoptotic genes in vivo. Interacts with P53/TP53; the interaction promotes pro- apoptotic activity. Q96KQ4; Q4G176: ACSF3; NbExp=3; IntAct=EBI-1105153, EBI-10714818; Q96KQ4; Q92619: ARHGAP45; NbExp=3; IntAct=EBI-1105153, EBI-2825900; Q96KQ4; Q13515: BFSP2; NbExp=3; IntAct=EBI-1105153, EBI-10229433; Q96KQ4; Q9NWW7: C2orf42; NbExp=3; IntAct=EBI-1105153, EBI-2812028; Q96KQ4; Q9Y6W3: CAPN7; NbExp=3; IntAct=EBI-1105153, EBI-1765641; Q96KQ4; Q8NA61-2: CBY2; NbExp=3; IntAct=EBI-1105153, EBI-11524851; Q96KQ4; Q68D86: CCDC102B; NbExp=3; IntAct=EBI-1105153, EBI-10171570; Q96KQ4; Q52MB2: CCDC184; NbExp=3; IntAct=EBI-1105153, EBI-10179526; Q96KQ4; Q8TD31-3: CCHCR1; NbExp=3; IntAct=EBI-1105153, EBI-10175300; Q96KQ4; Q99459: CDC5L; NbExp=5; IntAct=EBI-1105153, EBI-374880; Q96KQ4; Q86XR8-3: CEP57; NbExp=3; IntAct=EBI-1105153, EBI-11752486; Q96KQ4; B9EK46: CGN; NbExp=3; IntAct=EBI-1105153, EBI-14314072; Q96KQ4; P61024: CKS1B; NbExp=3; IntAct=EBI-1105153, EBI-456371; Q96KQ4; Q05D60: DEUP1; NbExp=3; IntAct=EBI-1105153, EBI-748597; Q96KQ4; Q9BY27: DGCR6L; NbExp=3; IntAct=EBI-1105153, EBI-742953; Q96KQ4; O95057: DIRAS1; NbExp=3; IntAct=EBI-1105153, EBI-11993172; Q96KQ4; O60941-5: DTNB; NbExp=3; IntAct=EBI-1105153, EBI-11984733; Q96KQ4; Q09472: EP300; NbExp=2; IntAct=EBI-1105153, EBI-447295; Q96KQ4; Q8NB25: FAM184A; NbExp=3; IntAct=EBI-1105153, EBI-9917523; Q96KQ4; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-1105153, EBI-6658203; Q96KQ4; Q8NHY3: GAS2L2; NbExp=3; IntAct=EBI-1105153, EBI-7960826; Q96KQ4; Q9BRT9: GINS4; NbExp=3; IntAct=EBI-1105153, EBI-747500; Q96KQ4; Q92805: GOLGA1; NbExp=3; IntAct=EBI-1105153, EBI-6164177; Q96KQ4; Q9P0W2: HMG20B; NbExp=3; IntAct=EBI-1105153, EBI-713401; Q96KQ4; Q9BUJ2: HNRNPUL1; NbExp=3; IntAct=EBI-1105153, EBI-1018153; Q96KQ4; Q9HAQ2: KIF9; NbExp=3; IntAct=EBI-1105153, EBI-8472129; Q96KQ4; Q9BVG8-5: KIFC3; NbExp=3; IntAct=EBI-1105153, EBI-14069005; Q96KQ4; P35900: KRT20; NbExp=3; IntAct=EBI-1105153, EBI-742094; Q96KQ4; P19013: KRT4; NbExp=3; IntAct=EBI-1105153, EBI-2371606; Q96KQ4; P20700: LMNB1; NbExp=3; IntAct=EBI-1105153, EBI-968218; Q96KQ4; Q03252: LMNB2; NbExp=3; IntAct=EBI-1105153, EBI-2830427; Q96KQ4; P25800: LMO1; NbExp=3; IntAct=EBI-1105153, EBI-8639312; Q96KQ4; Q8TAP4-4: LMO3; NbExp=3; IntAct=EBI-1105153, EBI-11742507; Q96KQ4; Q8TBB1: LNX1; NbExp=3; IntAct=EBI-1105153, EBI-739832; Q96KQ4; O95460-2: MATN4; NbExp=3; IntAct=EBI-1105153, EBI-12072296; Q96KQ4; Q96EZ8: MCRS1; NbExp=3; IntAct=EBI-1105153, EBI-348259; Q96KQ4; Q8TD10: MIPOL1; NbExp=3; IntAct=EBI-1105153, EBI-2548751; Q96KQ4; Q9NYP9: MIS18A; NbExp=3; IntAct=EBI-1105153, EBI-1104552; Q96KQ4; P40692: MLH1; NbExp=3; IntAct=EBI-1105153, EBI-744248; Q96KQ4; Q9ULW6: NAP1L2; NbExp=3; IntAct=EBI-1105153, EBI-3911716; Q96KQ4; O14777: NDC80; NbExp=3; IntAct=EBI-1105153, EBI-715849; Q96KQ4; Q5HYW2: NHSL2; NbExp=3; IntAct=EBI-1105153, EBI-2859639; Q96KQ4; O75145: PPFIA3; NbExp=3; IntAct=EBI-1105153, EBI-1763225; Q96KQ4; P62136: PPP1CA; NbExp=11; IntAct=EBI-1105153, EBI-357253; Q96KQ4; Q6NYC8: PPP1R18; NbExp=3; IntAct=EBI-1105153, EBI-2557469; Q96KQ4; O43741: PRKAB2; NbExp=3; IntAct=EBI-1105153, EBI-1053424; Q96KQ4; P41219: PRPH; NbExp=3; IntAct=EBI-1105153, EBI-752074; Q96KQ4; P0CG20: PRR35; NbExp=3; IntAct=EBI-1105153, EBI-11986293; Q96KQ4; Q15311: RALBP1; NbExp=3; IntAct=EBI-1105153, EBI-749285; Q96KQ4; Q86YV0: RASAL3; NbExp=3; IntAct=EBI-1105153, EBI-3437896; Q96KQ4; Q8NHQ8-2: RASSF8; NbExp=6; IntAct=EBI-1105153, EBI-10976415; Q96KQ4; Q9NSC2: SALL1; NbExp=3; IntAct=EBI-1105153, EBI-11317266; Q96KQ4; O94964-4: SOGA1; NbExp=3; IntAct=EBI-1105153, EBI-14083835; Q96KQ4; P56279: TCL1A; NbExp=3; IntAct=EBI-1105153, EBI-749995; Q96KQ