Human Genes Group 3 Flashcards
ZNF808
Zinc finger protein 808 Q8N4W9 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
TTC36
Tetratricopeptide repeat protein 36 (TPR repeat protein 36) (HSP70-binding protein 21) A6NLP5
WAS
Wiskott-Aldrich syndrome protein (WASp) P42768 FUNCTION: Effector protein for Rho-type GTPases that regulates actin filament reorganization via its interaction with the Arp2/3 complex (, , ). Important for efficient actin polymerization (, , ). Possible regulator of lymphocyte and platelet function . Mediates actin filament reorganization and the formation of actin pedestals upon infection by pathogenic bacteria . In addition to its role in the cytoplasmic cytoskeleton, also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA . Promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) .
ZNF728
Zinc finger protein 728 P0DKX0
ZNF816
Zinc finger protein 816 Q0VGE8 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF75D
Zinc finger protein 75D (Zinc finger protein 75) (Zinc finger protein 82) P51815 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
WWOX
WW domain-containing oxidoreductase (EC 1.1.-) (Fragile site FRA16D oxidoreductase) (Short chain dehydrogenase/reductase family 41C member 1) Q9NZC7 FUNCTION: Putative oxidoreductase. Acts as a tumor suppressor and plays a role in apoptosis. Required for normal bone development (By similarity). May function synergistically with p53/TP53 to control genotoxic stress-induced cell death. Plays a role in TGFB1 signaling and TGFB1-mediated cell death. May also play a role in tumor necrosis factor (TNF)-mediated cell death. Inhibits Wnt signaling, probably by sequestering DVL2 in the cytoplasm.
ZFYVE9
Zinc finger FYVE domain-containing protein 9 (Mothers against decapentaplegic homolog-interacting protein) (Madh-interacting protein) (Novel serine protease) (NSP) (Receptor activation anchor) (hSARA) (Smad anchor for receptor activation) O95405 FUNCTION: Early endosomal protein that functions to recruit SMAD2/SMAD3 to intracellular membranes and to the TGF-beta receptor. Plays a significant role in TGF-mediated signaling by regulating the subcellular location of SMAD2 and SMAD3 and modulating the transcriptional activity of the SMAD3/SMAD4 complex. Possibly associated with TGF-beta receptor internalization. SUBCELLULAR LOCATION: Cytoplasm. Early endosome membrane.
WASL
Neural Wiskott-Aldrich syndrome protein (N-WASP) O00401 FUNCTION: Regulates actin polymerization by stimulating the actin-nucleating activity of the Arp2/3 complex (, , , , , ). Involved in various processes, such as mitosis and cytokinesis, via its role in the regulation of actin polymerization (, , , , ). Together with CDC42, involved in the extension and maintenance of the formation of thin, actin-rich surface projections called filopodia . In addition to its role in the cytoplasm, also plays a role in the nucleus by regulating gene transcription, probably by promoting nuclear actin polymerization . Binds to HSF1/HSTF1 and forms a complex on heat shock promoter elements (HSE) that negatively regulates HSP90 expression (By similarity). Plays a role in dendrite spine morphogenesis (By similarity). Decreasing levels of DNMBP (using antisense RNA) alters apical junction morphology in cultured enterocytes, junctions curve instead of being nearly linear .
ZMYND12
Zinc finger MYND domain-containing protein 12 Q9H0C1
ZNF141
Zinc finger protein 141 Q15928 FUNCTION: May be involved in transcriptional regulation as a repressor. Plays a role in limb development.
ZNF182
Zinc finger protein 182 (Zinc finger protein 21) (Zinc finger protein KOX14) P17025 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
WDR72
WD repeat-containing protein 72 Q3MJ13 FUNCTION: Plays a major role in formation of tooth enamel (, ). Specifically required during the maturation phase of amelogenesis for normal formation of the enamel matrix and clearance of enamel proteins. May be involved in localization of the calcium transporter SLC24A4 to the ameloblast cell membrane.
WDR92
WD repeat-containing protein 92 (WD repeat-containing protein Monad) Q96MX6 FUNCTION: Seems to act as a modulator of apoptosis.
ZNF292
Zinc finger protein 292 O60281 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF671
Zinc finger protein 671 Q8TAW3 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF678
Zinc finger protein 678 Q5SXM1 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF782
Zinc finger protein 782 Q6ZMW2 FUNCTION: May be involved in transcriptional regulation.
ZNF423
Zinc finger protein 423 (Olf1/EBF-associated zinc finger protein) (hOAZ) (Smad- and Olf-interacting zinc finger protein) Q2M1K9 FUNCTION: Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation.
ZNF358
Zinc finger protein 358 Q9NW07 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF714
Zinc finger protein 714 Q96N38 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
WFIKKN2
WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 (Growth and differentiation factor-associated serum protein 1) (GASP-1) (hGASP-1) (WAP, follistatin, immunoglobulin, Kunitz and NTR domain-containing-related protein) (WFIKKN-related protein) Q8TEU8 FUNCTION: Protease-inhibitor that contains multiple distinct protease inhibitor domains. Probably has serine protease- and metalloprotease-inhibitor activity. Inhibits the biological activity of mature myostatin, but not activin (By similarity).
ZNF680
Zinc finger protein 680 Q8NEM1 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF513
Zinc finger protein 513 Q8N8E2 FUNCTION: Transcriptional regulator that plays a role in retinal development and maintenance.
ZNF616
Zinc finger protein 616 Q08AN1 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF252P-AS1
Putative uncharacterized protein ZNF252P-AS1 (ZNF252P antisense RNA 1) (ZNF252P antisense gene protein 1) Q0IIN9
ZNF609
Zinc finger protein 609 O15014 FUNCTION: Transcription factor, which activates RAG1, and possibly RAG2, transcription. Through the regulation of RAG1/2 expression, may regulate thymocyte maturation. Along with NIPBL and the multiprotein complex Integrator, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others.
ZNF546
Zinc finger protein 546 (Zinc finger protein 49) Q86UE3 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
WLS
Protein wntless homolog (Integral membrane protein GPR177) (Protein evenness interrupted homolog) (EVI) (Putative NF-kappa-B-activating protein 373) Q5T9L3 FUNCTION: Regulates Wnt proteins sorting and secretion in a feedback regulatory mechanism. This reciprocal interaction plays a key role in the regulation of expression, subcellular location, binding and organelle-specific association of Wnt proteins. Plays also an important role in establishment of the anterior-posterior body axis formation during development (By similarity).
ZSCAN22
Zinc finger and SCAN domain-containing protein 22 (Krueppel-related zinc finger protein 2) (Protein HKR2) (Zinc finger protein 50) P10073 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZYX
Zyxin (Zyxin-2) Q15942 FUNCTION: Adhesion plaque protein. Binds alpha-actinin and the CRP protein. Important for targeting TES and ENA/VASP family members to focal adhesions and for the formation of actin-rich structures. May be a component of a signal transduction pathway that mediates adhesion-stimulated changes in gene expression (By similarity). SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton. Nucleus. Cell junction, focal adhesion. Note=Associates with the actin cytoskeleton near the adhesion plaques. Enters the nucleus in the presence of HESX1.
TTC41P
Putative tetratricopeptide repeat protein 41 (TPR repeat protein 41) (Grp94-neighboring nucleotidase) Q6P2S7 SUBCELLULAR LOCATION: Cytoplasm .
TTC37
Tetratricopeptide repeat protein 37 (TPR repeat protein 37) (SKI3 homolog) (Ski3) (Tricho-hepatic-enteric syndrome protein) (Thespin) Q6PGP7 FUNCTION: Component of the SKI complex which is thought to be involved in exosome-mediated RNA decay and associates with transcriptionally active genes in a manner dependent on PAF1 complex (PAF1C). SUBCELLULAR LOCATION: Cytoplasm .
VMP1
Vacuole membrane protein 1 (Transmembrane protein 49) Q96GC9 FUNCTION: Stress-induced protein that, when overexpressed, promotes formation of intracellular vacuoles followed by cell death. May be involved in the cytoplasmic vacuolization of acinar cells during the early stage of acute pancreatitis. Plays a role in the initial stages of the autophagic process through its interaction with BECN1 (By similarity). Involved in cell-cell adhesion. Plays an essential role in formation of cell junctions . Required for autophagosome formation .
XCL1
Lymphotactin (ATAC) (C motif chemokine 1) (Cytokine SCM-1) (Lymphotaxin) (SCM-1-alpha) (Small-inducible cytokine C1) (XC chemokine ligand 1) P47992 FUNCTION: Chemotactic activity for lymphocytes but not for monocytes or neutrophils. In thymus, mediates medullary accumulation of thymic dendritic cells and contributes to regulatoy T cell development, playing a role in self-tolerance establishment. SUBCELLULAR LOCATION: Secreted.
VASH2
Tubulinyl-Tyr carboxypeptidase 2 (EC 3.17.17) (Vasohibin-2) (Vasohibin-like protein) Q86V25 FUNCTION: Tyrosine carboxypeptidase that removes the C-terminal tyrosine residue of alpha-tubulin, thereby regulating microtubule dynamics and function . Acts as an activator of angiogenesis: expressed in infiltrating mononuclear cells in the sprouting front to promote angiogenesis .
ATP6V1B1
V-type proton ATPase subunit B, kidney isoform (V-ATPase subunit B 1) (Endomembrane proton pump 58 kDa subunit) (Vacuolar proton pump subunit B 1) P15313 FUNCTION: Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. SUBCELLULAR LOCATION: Endomembrane system; Peripheral membrane protein. Note=Endomembrane.
VPS26B
Vacuolar protein sorting-associated protein 26B (Vesicle protein sorting 26B) Q4G0F5 FUNCTION: Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5. May be involved in retrograde transport of SORT1 but not of IGF2R. Acts redundantly with VSP26A in SNX-27 mediated endocytic recycling of SLC2A1/GLUT1 (By similarity).
VPS33B
Vacuolar protein sorting-associated protein 33B (hVPS33B) Q9H267 FUNCTION: May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Mediates phagolysosomal fusion in macrophages . Proposed to be involved in endosomal maturation implicating VIPAS39. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical recycling pathway and in the maintenance of the apical-basolateral polarity . Seems to be involved in the sorting of specific cargos from the trans-Golgi network to alpha-granule-destined multivesicular bodies (MVBs) promoting MVBs maturation in megakaryocytes (By similarity).
VAV2
Guanine nucleotide exchange factor VAV2 (VAV-2) P52735 FUNCTION: Guanine nucleotide exchange factor for the Rho family of Ras-related GTPases. Plays an important role in angiogenesis. Its recruitment by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell migration and assembly (By similarity).
VPS29
Vacuolar protein sorting-associated protein 29 (hVPS29) (PEP11 homolog) (Vesicle protein sorting 29) Q9UBQ0 FUNCTION: Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5. Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (, , ). Acts also as component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) . In the endosomes, retriever complex drives the retrieval and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numerous cell surface proteins associated with processes that include cell migration, cell adhesion, nutrient supply and cell signaling . The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes . Involved in GLUT1 endosome-to-plasma membrane trafficking; the function is dependent of association with ANKRD27 .
YPEL3
Protein yippee-like 3 P61236 FUNCTION: Involved in proliferation and apoptosis in myeloid precursor cells.
VRK2
Serine/threonine-protein kinase VRK2 (EC 2.11.1) (Vaccinia-related kinase 2) Q86Y07 FUNCTION: Serine/threonine kinase that regulates several signal transduction pathways. Isoform 1 modulates the stress response to hypoxia and cytokines, such as interleukin-1 beta (IL1B) and this is dependent on its interaction with MAPK8IP1, which assembles mitogen-activated protein kinase (MAPK) complexes. Inhibition of signal transmission mediated by the assembly of MAPK8IP1-MAPK complexes reduces JNK phosphorylation and JUN-dependent transcription. Phosphorylates ‘Thr-18’ of p53/TP53, histone H3, and may also phosphorylate MAPK8IP1. Phosphorylates BANF1 and disrupts its ability to bind DNA and reduces its binding to LEM domain-containing proteins. Downregulates the transactivation of transcription induced by ERBB2, HRAS, BRAF, and MEK1. Blocks the phosphorylation of ERK in response to ERBB2 and HRAS. Can also phosphorylate the following substrates that are commonly used to establish in vitro kinase activity: casein, MBP and histone H2B, but it is not sure that this is physiologically relevant.; FUNCTION: Isoform 2 phosphorylates ‘Thr-18’ of p53/TP53, as well as histone H3. Reduces p53/TP53 ubiquitination by MDM2, promotes p53/TP53 acetylation by EP300 and thereby increases p53/TP53 stability and activity. SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm. Endoplasmic reticulum membrane .
VTI1B
Vesicle transport through interaction with t-SNAREs homolog 1B (Vesicle transport v-SNARE protein Vti1-like 1) (Vti1-rp1) Q9UEU0 FUNCTION: V-SNARE that mediates vesicle transport pathways through interactions with t-SNAREs on the target membrane. These interactions are proposed to mediate aspects of the specificity of vesicle trafficking and to promote fusion of the lipid bilayers. May be concerned with increased secretion of cytokines associated with cellular senescence.
SLC18A3
Vesicular acetylcholine transporter (VAChT) (Solute carrier family 18 member 3) Q16572 FUNCTION: Involved in acetylcholine transport into synaptic vesicles.
WASHC2C
WASH complex subunit 2C (Vaccinia virus penetration factor) (VPEF) Q9Y4E1 FUNCTION: Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes inhibits WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization and is involved in the fission of tubules that serve as transport intermediates during endosome sorting. Mediates the recruitment of the WASH core complex to endosome membranes via binding to phospholipids and VPS35 of the retromer CSC. Mediates the recruitment of the F-actin-capping protein dimer to the WASH core complex probably promoting localized F-actin polymerization needed for vesicle scission (, , , ). Via its C-terminus binds various phospholipids, most strongly phosphatidylinositol 4-phosphate (PtdIns-(4)P), phosphatidylinositol 5-phosphate (PtdIns-(5)P) and phosphatidylinositol 3,5-bisphosphate (PtdIns-(3,5)P2). Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 . Required for the association of DNAJC13, ENTR1, ANKRD50 with retromer CSC subunit VPS35 . Required for the endosomal recruitment of CCC and retriever complexes subunits COMMD1 and CCDC93 as well as the retrievere complex subunit VPS35L (, ). Cell membrane. Note=Partially colocalizes with RAB11A, a recycling endosome marker. Associates with lipid raft microdomains on the plasma membrane.
ZFAND2A
AN1-type zinc finger protein 2A Q8N6M9 SUBCELLULAR LOCATION: Cytoplasm .
WBP1L
WW domain binding protein 1-like (Outcome predictor in acute leukemia 1) Q9NX94 SUBCELLULAR LOCATION: Membrane .
AVPR1B
Vasopressin V1b receptor (V1bR) (AVPR V1b) (AVPR V3) (Antidiuretic hormone receptor 1b) (Vasopressin V3 receptor) P47901 FUNCTION: Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate a phosphatidyl-inositol-calcium second messenger system. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
WASF3
Wiskott-Aldrich syndrome protein family member 3 (WASP family protein member 3) (Protein WAVE-3) (Verprolin homology domain-containing protein 3) Q9UPY6 FUNCTION: Downstream effector molecules involved in the transmission of signals from tyrosine kinase receptors and small GTPases to the actin cytoskeleton. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
ZFP82
Zinc finger protein 82 homolog (Zfp-82) (Zinc finger protein 545) Q8N141 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZGRF1
Protein ZGRF1 (GRF-type zinc finger domain-containing protein 1) Q86YA3 SUBCELLULAR LOCATION: Membrane .
ZMIZ1
Zinc finger MIZ domain-containing protein 1 (PIAS-like protein Zimp10) (Retinoic acid-induced protein 17) Q9ULJ6 FUNCTION: Acts as transcriptional coactivator. Increases ligand-dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation (, ). Also functions as a transcriptional coactivator in the TGF-beta signaling pathway by increasing the activity of the SMAD3/SMAD4 transcriptional complex . Involved in transcriptional activation of a subset of NOTCH1 target genes including MYC. Involved in thymocyte and T cell development (By similarity).
WDR49
WD repeat-containing protein 49 Q8IV35
ZNF32
Zinc finger protein 32 (C2H2-546) (Zinc finger protein KOX30) P17041 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF488
Zinc finger protein 488 Q96MN9 FUNCTION: Transcriptional repressor. Plays a role in oligodendrocyte differentiation, together with OLIG2. Mediates Notch signaling-activated formation of oligodendrocyte precursors. Promotes differentiation of adult neural stem progenitor cells (NSPCs) into mature oligodendrocytes and contributes to remyelination following nerve injury.
ZNF774
Zinc finger protein 774 Q6NX45 FUNCTION: May be involved in transcriptional regulation.
ZNF530
Zinc finger protein 530 Q6P9A1 FUNCTION: May be involved in transcriptional regulation.
TSKS
Testis-specific serine kinase substrate (Testis-specific kinase substrate) (STK22 substrate 1) Q9UJT2 FUNCTION: May play a role in testicular physiology, most probably in the process of spermatogenesis or spermatid development. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole . Note=Concentrates in spermatid centrioles during flagellogenesis.
ZNF84
Zinc finger protein 84 (Zinc finger protein HPF2) P51523 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
TSPAN9
Tetraspanin-9 (Tspan-9) (Tetraspan NET-5) O75954 SUBCELLULAR LOCATION: Membrane .
WNK2
Serine/threonine-protein kinase WNK2 (EC 2.11.1) (Antigen NY-CO-43) (Protein kinase lysine-deficient 2) (Protein kinase with no lysine 2) (Serologically defined colon cancer antigen 43) Q9Y3S1 FUNCTION: Serine/threonine kinase which plays an important role in the regulation of electrolyte homeostasis, cell signaling, survival, and proliferation. Acts as an activator and inhibitor of sodium-coupled chloride cotransporters and potassium-coupled chloride cotransporters respectively. Activates SLC12A2, SCNN1A, SCNN1B, SCNN1D and SGK1 and inhibits SLC12A5. Negatively regulates the EGF-induced activation of the ERK/MAPK-pathway and the downstream cell cycle progression. Affects MAPK3/MAPK1 activity by modulating the activity of MAP2K1 and this modulation depends on phosphorylation of MAP2K1 by PAK1. WNK2 acts by interfering with the activity of PAK1 by controlling the balance of the activity of upstream regulators of PAK1 activity, RHOA and RAC1, which display reciprocal activity.
TTC27
Tetratricopeptide repeat protein 27 (TPR repeat protein 27) Q6P3X3
TTC16
Tetratricopeptide repeat protein 16 (TPR repeat protein 16) Q8NEE8
ATP6V1E2
V-type proton ATPase subunit E 2 (V-ATPase subunit E 2) (Vacuolar proton pump subunit E 2) Q96A05 FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells. This isoform is essential for energy coupling involved in acidification of acrosome (By similarity).
WDR17
WD repeat-containing protein 17 Q8IZU2
WDR24
GATOR complex protein WDR24 (WD repeat-containing protein 24) Q96S15 FUNCTION: As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway (, ). Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex . It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (, , ). In addition to its role in regulation of the TORC1 complex, promotes the acidification of lysosomes and facilitates autophagic flux .
ZMAT2
Zinc finger matrin-type protein 2 Q96NC0 FUNCTION: Involved in pre-mRNA splicing as a component of the spliceosome.
ZKSCAN1
Zinc finger protein with KRAB and SCAN domains 1 (Zinc finger protein 139) (Zinc finger protein 36) (Zinc finger protein KOX18) P17029 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZMYND15
Zinc finger MYND domain-containing protein 15 Q9H091 FUNCTION: Acts as a transcriptional repressor through interaction with histone deacetylases (HDACs). May be important for spermiogenesis.
ZNF239
Zinc finger protein 239 (Zinc finger protein HOK-2) (Zinc finger protein MOK-2) Q16600 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF221
Zinc finger protein 221 Q9UK13 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF213
Zinc finger protein 213 (Putative transcription factor CR53) (Zinc finger protein with KRAB and SCAN domains 21) O14771 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
WDR7
WD repeat-containing protein 7 (Rabconnectin-3 beta) (TGF-beta resistance-associated protein TRAG) Q9Y4E6
ULK4
Serine/threonine-protein kinase ULK4 (EC 2.11.1) (Unc-51-like kinase 4) Q96C45 FUNCTION: May be involved in the remodeling of cytoskeletal components, such as alpha-tubulin, and in this way regulates neurite branching and elongation, as well as cell motility.
ZNF225
Zinc finger protein 225 Q9UK10 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF285
Zinc finger protein 285 (Zinc finger protein 285A) Q96NJ3 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF300
Zinc finger protein 300 Q96RE9 FUNCTION: Has a transcriptional repressor activity.
ZNF729
Zinc finger protein 729 A6NN14 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF764
Zinc finger protein 764 Q96H86 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF17
Zinc finger protein 17 (Zinc finger protein HPF3) (Zinc finger protein KOX10) P17021 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
TSHZ2
Teashirt homolog 2 (Ovarian cancer-related protein 10-2) (OVC10-2) (Zinc finger protein 218) Q9NRE2 FUNCTION: Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential).
WFDC2
WAP four-disulfide core domain protein 2 (Epididymal secretory protein E4) (Major epididymis-specific protein E4) (Putative protease inhibitor WAP5) Q14508 FUNCTION: Broad range protease inhibitor.
ZNF367
Zinc finger protein 367 (C2H2 zinc finger protein ZFF29) Q7RTV3 FUNCTION: Transcriptional activator. Isoform 1 may be involved in transcriptional activation of erythroid genes.
ZNF589
Zinc finger protein 589 (Stem cell zinc finger protein 1) Q86UQ0 FUNCTION: May play a role in hematopoietic stem/progenitor cell differentiation. May play a role as a DNA binding-dependent transcriptional repressor.
SLC30A5
Zinc transporter 5 (ZnT-5) (Solute carrier family 30 member 5) (ZnT-like transporter 1) (hZTL1) Q8TAD4 FUNCTION: Functions as a zinc transporter. May be a transporter of zinc into beta cells in order to form insulin crystals. Partly regulates cellular zinc homeostasis. Required with ZNT7 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT6 and ZNT7 for the activation of TNAP. Note=Perimeter of granules, localizes to the brush border membrane of the enterocyte. Concentrated in early compartments of the secretory pathway such as COPII-coated vesicles.
SLC30A3
Zinc transporter 3 (ZnT-3) (Solute carrier family 30 member 3) Q99726 FUNCTION: Involved in accumulation of zinc in synaptic vesicles.
VIPR1
Vasoactive intestinal polypeptide receptor 1 (VIP-R-1) (Pituitary adenylate cyclase-activating polypeptide type II receptor) (PACAP type II receptor) (PACAP-R-2) (PACAP-R2) (VPAC1) P32241 FUNCTION: This is a receptor for VIP. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. The affinity is VIP = PACAP-27 > PACAP-38. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
ZNF573
Zinc finger protein 573 Q86YE8 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
WIPI2
WD repeat domain phosphoinositide-interacting protein 2 (WIPI-2) (WIPI49-like protein 2) Q9Y4P8 FUNCTION: Component of the autophagy machinery that controls the major intracellular degradation process by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation (, ). Involved in an early step of the formation of preautophagosomal structures (, ). Binds and is activated by phosphatidylinositol 3-phosphate (PtdIns3P) forming on membranes of the endoplasmic reticulum upon activation of the upstream ULK1 and PI3 kinases . Once activated, WIPI2 recruits at phagophore assembly sites the ATG12-ATG5-ATG16L1 complex that directly controls the elongation of the nascent autophagosomal membrane (, ).
SLC30A8
Zinc transporter 8 (ZnT-8) (Solute carrier family 30 member 8) Q8IWU4 FUNCTION: Facilitates the accumulation of zinc from the cytoplasm into intracellular vesicles, being a zinc-efflux transporter. May be a major component for providing zinc to insulin maturation and/or storage processes in insulin-secreting pancreatic beta-cells.
WISP2
WNT1-inducible-signaling pathway protein 2 (WISP-2) (CCN family member 5) (Connective tissue growth factor-like protein) (CTGF-L) (Connective tissue growth factor-related protein 58) O76076 FUNCTION: 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. SUBCELLULAR LOCATION: Secreted .
VSIR
V-type immunoglobulin domain-containing suppressor of T-cell activation (Platelet receptor Gi24) (Stress-induced secreted protein-1) (Sisp-1) (V-set domain-containing immunoregulatory receptor) (V-set immunoregulatory receptor) Q9H7M9 FUNCTION: Immunoregulatory receptor which inhibits the T-cell response . May promote differentiation of embryonic stem cells, by inhibiting BMP4 signaling (By similarity). May stimulate MMP14-mediated MMP2 activation .
ZNF652
Zinc finger protein 652 Q9Y2D9 FUNCTION: Functions as a transcriptional repressor.
ZP1
Zona pellucida sperm-binding protein 1 (Zona pellucida glycoprotein 1) (Zp-1) [Cleaved into: Processed zona pellucida sperm-binding protein 1] P60852 FUNCTION: Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy. The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP1 ensures the structural integrity of the zona pellucida. SUBCELLULAR LOCATION: [Processed zona pellucida sperm-binding protein 1]: Secreted, extracellular space, extracellular matrix .
WNT5B
Protein Wnt-5b Q9H1J7 FUNCTION: Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters (By similarity). SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix.
TTC21A
Tetratricopeptide repeat protein 21A (TPR repeat protein 21A) (Stress-inducible protein 2) Q8NDW8 FUNCTION: Intraflagellar transport (IFT)-associated protein required for spermatogenesis . Required for sperm flagellar formation and intraflagellar transport .
ZP2
Zona pellucida sperm-binding protein 2 (Zona pellucida glycoprotein 2) (Zp-2) (Zona pellucida protein A) [Cleaved into: Processed zona pellucida sperm-binding protein 2] Q05996 FUNCTION: Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy . The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP2 may act as a secondary sperm receptor .
ZNF506
Zinc finger protein 506 Q5JVG8 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ATP6V0E2
V-type proton ATPase subunit e 2 (V-ATPase subunit e 2) (Lysosomal 9 kDa H(+)-transporting ATPase V0 subunit e2) (Vacuolar proton pump subunit e 2) Q8NHE4 FUNCTION: Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
WWTR1
WW domain-containing transcription regulator protein 1 (Transcriptional coactivator with PDZ-binding motif) Q9GZV5 FUNCTION: Transcriptional coactivator which acts as a downstream regulatory target in the Hippo signaling pathway that plays a pivotal role in organ size control and tumor suppression by restricting proliferation and promoting apoptosis. The core of this pathway is composed of a kinase cascade wherein STK3/MST2 and STK4/MST1, in complex with its regulatory protein SAV1, phosphorylates and activates LATS1/2 in complex with its regulatory protein MOB1, which in turn phosphorylates and inactivates YAP1 oncoprotein and WWTR1/TAZ. WWTR1 enhances PAX8 and NKX2-1/TTF1-dependent gene activation. Regulates the nuclear accumulation of SMADS and has a key role in coupling them to the transcriptional machinery such as the mediator complex. Regulates embryonic stem-cell self-renewal, promotes cell proliferation and epithelial-mesenchymal transition. SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Concentrates along specific portions of the plasma membrane, and accumulates in punctate nuclear bodies. When phosphorylated, is retained in cytoplasm by YWHAZ. Can be retained in the nucleus by MED15.
XAF1
XIAP-associated factor 1 (BIRC4-binding protein) Q6GPH4 FUNCTION: Seems to function as a negative regulator of members of the IAP (inhibitor of apoptosis protein) family. Inhibits anti-caspase activity of BIRC4. Induces cleavage and inactivation of BIRC4 independent of caspase activation. Mediates TNF-alpha-induced apoptosis and is involved in apoptosis in trophoblast cells. May inhibit BIRC4 indirectly by activating the mitochondrial apoptosis pathway. After translocation to mitochondria, promotes translocation of BAX to mitochondria and cytochrome c release from mitochondria. Seems to promote the redistribution of BIRC4 from the cytoplasm to the nucleus, probably independent of BIRC4 inactivation which seems to occur in the cytoplasm. The BIRC4-XAF1 complex mediates down-regulation of BIRC5/survivin; the process requires the E3 ligase activity of BIRC4. Seems to be involved in cellular sensitivity to the proapoptotic actions of TRAIL. May be a tumor suppressor by mediating apoptosis resistance of cancer cells. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Mitochondrion. Note=Found in the cytoplasm and nucleus of placental syncytiotrophoblasts. Translocates to mitochondria upon TNF-alpha treatment.; SUBCELLULAR LOCATION: [Isoform 1]: Nucleus.; SUBCELLULAR LOCATION: [Isoform 5]: Nucleus.
TTC32
Tetratricopeptide repeat protein 32 (TPR repeat protein 32) Q5I0X7
ZSCAN5DP
Putative zinc finger and SCAN domain-containing protein 5D (Zinc finger and SCAN domain-containing protein 5D pseudogene) P0CG00 SUBCELLULAR LOCATION: Nucleus .
ZRANB3
DNA annealing helicase and endonuclease ZRANB3 (Annealing helicase 2) (AH2) (Zinc finger Ran-binding domain-containing protein 3) [Includes: DNA annealing helicase ZRANB3 (EC 3.4.-); Endonuclease ZRANB3 (EC 3.-.-)] Q5FWF4 FUNCTION: DNA annealing helicase and endonuclease required to maintain genome stability at stalled or collapsed replication forks by facilitating fork restart and limiting inappropriate recombination that could occur during template switching events (, , , , ). Recruited to the sites of stalled DNA replication by polyubiquitinated PCNA and acts as a structure-specific endonuclease that cleaves the replication fork D-loop intermediate, generating an accessible 3’-OH group in the template of the leading strand, which is amenable to extension by DNA polymerase . In addition to endonuclease activity, also catalyzes the fork regression via annealing helicase activity in order to prevent disintegration of the replication fork and the formation of double-strand breaks (, ).
TTLL6
Tubulin polyglutamylase TTLL6 (EC 6.-.-) (Tubulin–tyrosine ligase-like protein 6) Q8N841 FUNCTION: Polyglutamylase which preferentially modifies alpha-tubulin. Mediates tubulin polyglutamylation in cilia. Involved in the side-chain elongation step of the polyglutamylation reaction rather than in the initiation step. Generates long side-chains. Generates polyglutamylation of CGAS, leading to impair the DNA-binding activity of CGAS.
VPS13B
Vacuolar protein sorting-associated protein 13B (Cohen syndrome protein 1) Q7Z7G8 FUNCTION: May be involved in protein sorting in post Golgi membrane traffic.
ATP6V1C2
V-type proton ATPase subunit C 2 (V-ATPase subunit C 2) (Vacuolar proton pump subunit C 2) Q8NEY4 FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit C is necessary for the assembly of the catalytic sector of the enzyme and is likely to have a specific function in its catalytic activity. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
VCAM1
Vascular cell adhesion protein 1 (V-CAM 1) (VCAM-1) (INCAM-100) (CD antigen CD106) P19320 FUNCTION: Important in cell-cell recognition. Appears to function in leukocyte-endothelial cell adhesion. Interacts with integrin alpha-4/beta-1 (ITGA4/ITGB1) on leukocytes, and mediates both adhesion and signal transduction. The VCAM1/ITGA4/ITGB1 interaction may play a pathophysiologic role both in immune responses and in leukocyte emigration to sites of inflammation. SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
ERVK-9
Endogenous retrovirus group K member 9 Pro protein (HERV-K(C6) Pro protein) (HERV-K109 Pro protein) (HERV-K_6q14.1 provirus ancestral Pro protein) (EC 3.23.50) (Protease) (Proteinase) (PR) P63127 FUNCTION: Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution (By similarity).
ERVK-19
Endogenous retrovirus group K member 19 Pro protein (HERV-K(C19) Pro protein) (HERV-K_19q12 provirus ancestral Pro protein) (EC 3.23.50) (Protease) (Proteinase) (PR) P63120 FUNCTION: Retroviral proteases have roles in the processing of the primary translation products and the maturation of the viral particle. Endogenous Pro proteins may have kept, lost or modified their original function during evolution.
CDPF1
Cysteine-rich DPF motif domain-containing protein 1 Q6NVV7
COPG1
Coatomer subunit gamma-1 (Gamma-1-coat protein) (Gamma-1-COP) Q9Y678 FUNCTION: The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi network. Coatomer complex is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. In mammals, the coatomer can only be recruited by membranes associated to ADP-ribosylation factors (ARFs), which are small GTP-binding proteins; the complex also influences the Golgi structural integrity, as well as the processing, activity, and endocytic recycling of LDL receptors. Required for limiting lipid storage in lipid droplets. Involved in lipid homeostasis by regulating the presence of perilipin family members PLIN2 and PLIN3 at the lipid droplet surface and promoting the association of adipocyte triglyceride lipase (PNPLA2) with the lipid droplet surface to mediate lipolysis (By similarity).
AKAP11
A-kinase anchor protein 11 (AKAP-11) (A-kinase anchor protein 220 kDa) (AKAP 220) (hAKAP220) (Protein kinase A-anchoring protein 11) (PRKA11) Q9UKA4 FUNCTION: Binds to type II regulatory subunits of protein kinase A and anchors/targets them. SUBCELLULAR LOCATION: 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.
CDRT15
CMT1A duplicated region transcript 15 protein Q96T59
ATP5F1D
ATP synthase subunit delta, mitochondrial (ATP synthase F1 subunit delta) (F-ATPase delta subunit) P30049 FUNCTION: Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain . F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core, and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP turnover in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(1) domain and of the central stalk which is part of the complex rotary element. Rotation of the central stalk against the surrounding alpha(3)beta(3) subunits leads to hydrolysis of ATP in three separate catalytic sites on the beta subunits . SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion inner membrane.
CENPN
Centromere protein N (CENP-N) (Interphase centromere complex protein 32) Q96H22 FUNCTION: Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. CENPN is the first protein to bind specifically to CENPA nucleosomes and the direct binding of CENPA nucleosomes by CENPN is required for centromere assembly. Required for chromosome congression and efficiently align the chromosomes on a metaphase plate. SUBCELLULAR LOCATION: Nucleus. Chromosome, centromere, kinetochore. Note=Localizes exclusively in the kinetochore domain of centromeres. Kinetochore-bound levels decrease when cells enter mitosis and increase again when cells exit mitosis.
CPZ
Carboxypeptidase Z (CPZ) (EC 3.17.-) Q66K79 FUNCTION: Cleaves substrates with C-terminal arginine residues. Probably modulates the Wnt signaling pathway, by cleaving some undefined protein. May play a role in cleavage during prohormone processing.
CBR3
Carbonyl reductase [NADPH] 3 (EC 1.1.184) (NADPH-dependent carbonyl reductase 3) (Short chain dehydrogenase/reductase family 21C member 2) O75828 FUNCTION: Has low NADPH-dependent oxidoreductase activity towards 4-benzoylpyridine and menadione (in vitro).
BTN2A3P
Putative butyrophilin subfamily 2 member A3 Q96KV6 SUBCELLULAR LOCATION: Membrane .
CCAR2
Cell cycle and apoptosis regulator protein 2 (Cell division cycle and apoptosis regulator protein 2) (DBIRD complex subunit KIAA1967) (Deleted in breast cancer gene 1 protein) (DBC-1) (DBC.1) (NET35) (p30 DBC) Q8N163 FUNCTION: Core component of the DBIRD complex, a multiprotein complex that acts at the interface between core mRNP particles and RNA polymerase II (RNAPII) and integrates transcript elongation with the regulation of alternative splicing: the DBIRD complex affects local transcript elongation rates and alternative splicing of a large set of exons embedded in (A + T)-rich DNA regions. Inhibits SIRT1 deacetylase activity leading to increasing levels of p53/TP53 acetylation and p53-mediated apoptosis. Inhibits SUV39H1 methyltransferase activity. As part of a histone H3-specific methyltransferase complex may mediate ligand-dependent transcriptional activation by nuclear hormone receptors. Plays a critical role in maintaining genomic stability and cellular integrity following UV-induced genotoxic stress. Regulates the circadian expression of the core clock components NR1D1 and ARNTL/BMAL1. Enhances the transcriptional repressor activity of NR1D1 through stabilization of NR1D1 protein levels by preventing its ubiquitination and subsequent degradation (, , , , , , ). Represses the ligand-dependent transcriptional activation function of ESR2 . Acts as a regulator of PCK1 expression and gluconeogenesis by a mechanism that involves, at least in part, both NR1D1 and SIRT1 . Negatively regulates the deacetylase activity of HDAC3 and can alter its subcellular localization . Positively regulates the beta-catenin pathway (canonical Wnt signaling pathway) and is required for MCC-mediated repression of the beta-catenin pathway . Represses ligand-dependent transcriptional activation function of NR1H2 and NR1H3 and inhibits the interaction of SIRT1 with NR1H3 . Plays an important role in tumor suppression through p53/TP53 regulation; stabilizes p53/TP53 by affecting its interaction with ubiquitin ligase MDM2 . Represses the transcriptional activator activity of BRCA1 . Inhibits SIRT1 in a CHEK2 and PSEM3-dependent manner and inhibits the activity of CHEK2 in vitro .
CYP11A1
Cholesterol side-chain cleavage enzyme, mitochondrial (EC 1.14.15.6) (CYPXIA1) (Cholesterol desmolase) (Cytochrome P450 11A1) (Cytochrome P450(scc)) P05108 FUNCTION: A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones . Catalyzes three sequential oxidation reactions of cholesterol, namely the hydroxylation at C22 followed with the hydroxylation at C20 to yield 20R,22R-hydroxycholesterol that is further cleaved between C20 and C22 to yield the C21-steroid pregnenolone and 4-methylpentanal . Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) .
RPS19BP1
Active regulator of SIRT1 (40S ribosomal protein S19-binding protein 1) (RPS19-binding protein 1) (S19BP) Q86WX3 FUNCTION: Direct regulator of SIRT1. Enhances SIRT1-mediated deacetylation of p53/TP53, thereby participating in inhibition of p53/TP53-mediated transcriptional activity.
ARPP19
cAMP-regulated phosphoprotein 19 (ARPP-19) P56211 FUNCTION: Protein phosphatase inhibitor that specifically inhibits protein phosphatase 2A (PP2A) during mitosis. When phosphorylated at Ser-62 during mitosis, specifically interacts with PPP2R2D (PR55-delta) and inhibits its activity, leading to inactivation of PP2A, an essential condition to keep cyclin-B1-CDK1 activity high during M phase. May indirectly enhance GAP-43 expression.
C16orf47
Putative uncharacterized protein C16orf47 Q6ZP98
LINC01006
Putative uncharacterized protein encoded by LINC01006 (Long intergenic non-protein coding RNA 1006) Q8NI28 SUBCELLULAR LOCATION: Membrane .
CGRRF1
Cell growth regulator with RING finger domain protein 1 (Cell growth regulatory gene 19 protein) (RING finger protein 197) Q99675 FUNCTION: Able to inhibit growth in several cell lines.
CCDC40
Coiled-coil domain-containing protein 40 Q4G0X9 FUNCTION: Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella . Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 .
C8orf37
Protein C8orf37 Q96NL8 FUNCTION: May be involved in photoreceptor outer segment disk morphogenesis (By similarity).
CCDC43
Coiled-coil domain-containing protein 43 Q96MW1
CCDC42
Coiled-coil domain-containing protein 42 Q96M95 FUNCTION: Required for sperm development.
CCDC66
Coiled-coil domain-containing protein 66 A2RUB6 FUNCTION: Microtubule-binding protein required for ciliogenesis . May function in ciliogenesis by mediating the transport of proteins like BBS4 to the cilium, but also through the organization of the centriolar satellites . Plays a role in retina morphogenesis and/or homeostasis (By similarity).
ARPC2
Actin-related protein 2/3 complex subunit 2 (Arp2/3 complex 34 kDa subunit) (p34-ARC) O15144 FUNCTION: Actin-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) . The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility . Seems to contact the mother actin filament . In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA . The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) .
CCBE1
Collagen and calcium-binding EGF domain-containing protein 1 (Full of fluid protein homolog) Q6UXH8 FUNCTION: Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis.
ALS2
Alsin (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein) (Amyotrophic lateral sclerosis 2 protein) Q96Q42 FUNCTION: May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).
CTSE
Cathepsin E (EC 3.23.34) [Cleaved into: Cathepsin E form I; Cathepsin E form II] P14091 FUNCTION: May have a role in immune function. Probably involved in the processing of antigenic peptides during MHC class II-mediated antigen presentation. May play a role in activation-induced lymphocyte depletion in the thymus, and in neuronal degeneration and glial cell activation in the brain. Note=The proenzyme is localized to the endoplasmic reticulum and Golgi apparatus, while the mature enzyme is localized to the endosome.
C8orf48
Uncharacterized protein C8orf48 Q96LL4
C8orf82
UPF0598 protein C8orf82 Q6P1X6
CD163L1
Scavenger receptor cysteine-rich type 1 protein M160 (CD163 antigen-like 1) (CD antigen CD163b) Q9NR16 SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane .
ADD3
Gamma-adducin (Adducin-like protein 70) Q9UEY8 FUNCTION: Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Plays a role in actin filament capping . Binds to calmodulin. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side.
C2CD4C
C2 calcium-dependent domain-containing protein 4C (Nuclear-localized factor 3) (Protein FAM148C) Q8TF44
ARID3C
AT-rich interactive domain-containing protein 3C (ARID domain-containing protein 3C) A6NKF2 SUBCELLULAR LOCATION: Nucleus .
CACNG1
Voltage-dependent calcium channel gamma-1 subunit (Dihydropyridine-sensitive L-type, skeletal muscle calcium channel subunit gamma) Q06432 FUNCTION: Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Regulates channel inactivation kinetics.
C1QTNF9B
Complement C1q and tumor necrosis factor-related protein 9B (C1q/TNF-related protein 9B) (CTRP9B) (Complement C1q and tumor necrosis factor-related protein 9-like) B2RNN3 FUNCTION: Probable adipokine. Activates AMPK, AKT, and p44/42 MAPK signaling pathways. Note=Heteromeric complex formation with CTRP9A or ADIPOQ is required for secretion, otherwise, it is retained in the endoplasmic reticulum.
ADAMTS1
A disintegrin and metalloproteinase with thrombospondin motifs 1 (ADAM-TS 1) (ADAM-TS1) (ADAMTS-1) (EC 3.24.-) (METH-1) Q9UHI8 FUNCTION: Cleaves aggrecan, a cartilage proteoglycan, at the ‘1938-Glu-|-Leu-1939’ site (within the chondroitin sulfate attachment domain), and may be involved in its turnover (By similarity). Has angiogenic inhibitor activity. Active metalloprotease, which may be associated with various inflammatory processes as well as development of cancer cachexia. May play a critical role in follicular rupture.
C5AR2
C5a anaphylatoxin chemotactic receptor 2 (Complement component 5a receptor 2) (G-protein coupled receptor 77) Q9P296 FUNCTION: Receptor for the chemotactic and inflammatory C3a, C4a and C5a anaphylatoxin peptides and also for their dearginated forms ASP/C3adesArg, C4adesArg and C5adesArg respectively. Couples weakly to G(i)-mediated signaling pathways.
ASNS
Asparagine synthetase [glutamine-hydrolyzing] (EC 6.5.4) (Cell cycle control protein TS11) (Glutamine-dependent asparagine synthetase) P08243
C4orf36
Uncharacterized protein C4orf36 Q96KX1
CACUL1
CDK2-associated and cullin domain-containing protein 1 (Cdk-associated cullin1) Q86Y37 FUNCTION: Cell cycle associated protein capable of promoting cell proliferation through the activation of CDK2 at the G1/S phase transition.
GLA
Alpha-galactosidase A (EC 3.1.22) (Alpha-D-galactosidase A) (Alpha-D-galactoside galactohydrolase) (Melibiase) (Agalsidase) P06280 SUBCELLULAR LOCATION: Lysosome.
COIL
Coilin (p80-coilin) P38432 FUNCTION: Component of nuclear coiled bodies, also known as Cajal bodies or CBs, which are involved in the modification and assembly of nucleoplasmic snRNPs.
AGK
Acylglycerol kinase, mitochondrial (hAGK) (EC 2.1.107) (EC 2.1.138) (EC 2.1.94) (Multiple substrate lipid kinase) (HsMuLK) (MuLK) (Multi-substrate lipid kinase) Q53H12 FUNCTION: Lipid kinase that can phosphorylate both monoacylglycerol and diacylglycerol to form lysophosphatidic acid (LPA) and phosphatidic acid (PA), respectively . Does not phosphorylate sphingosine . Phosphorylates ceramide (By similarity). Phosphorylates 1,2-dioleoylglycerol more rapidly than 2,3-dioleoylglycerol (By similarity). Independently of its lipid kinase activity, acts as a component of the TIM22 complex (, ). The TIM22 complex mediates the import and insertion of multi-pass transmembrane proteins into the mitochondrial inner membrane by forming a twin-pore translocase that uses the membrane potential as the external driving force (, ). In the TIM22 complex, required for the import of a subset of metabolite carriers into mitochondria, such as ANT1/SLC25A4 and SLC25A24, while it is not required for the import of TIMM23 . Overexpression increases the formation and secretion of LPA, resulting in transactivation of EGFR and activation of the downstream MAPK signaling pathway, leading to increased cell growth .
CADM3
Cell adhesion molecule 3 (Brain immunoglobulin receptor) (Immunoglobulin superfamily member 4B) (IgSF4B) (Nectin-like protein 1) (NECL-1) (Synaptic cell adhesion molecule 3) (SynCAM3) (TSLC1-like protein 1) (TSLL1) Q8N126 FUNCTION: Involved in the cell-cell adhesion. Has both calcium-independent homophilic cell-cell adhesion activity and calcium-independent heterophilic cell-cell adhesion activity with IGSF4, NECTIN1 and NECTIN3. Interaction with EPB41L1 may regulate structure or function of cell-cell junctions (By similarity).
ADGRG7
Adhesion G-protein coupled receptor G7 (G-protein coupled receptor 128) Q96K78 FUNCTION: Orphan receptor. SUBCELLULAR LOCATION: Membrane .
CD81
CD81 antigen (26 kDa cell surface protein TAPA-1) (Target of the antiproliferative antibody 1) (Tetraspanin-28) (Tspan-28) (CD antigen CD81) P60033 FUNCTION: Structural component of specialized membrane microdomains known as tetraspanin-enriched microdomains (TERMs), which act as platforms for receptor clustering and signaling. Essential for trafficking and compartmentalization of CD19 receptor on the surface of activated B cells (, , ). Upon initial encounter with microbial pathogens, enables the assembly of CD19-CR2/CD21 and B cell receptor (BCR) complexes at signaling TERMs, lowering the threshold dose of antigen required to trigger B cell clonal expansion and antibody production (, ). In T cells, facilitates the localization of CD247/CD3 zeta at antigen-induced synapses with B cells, providing for costimulation and polarization toward T helper type 2 phenotype (, , ). Present in MHC class II compartments, may also play a role in antigen presentation (, ). Can act both as positive and negative regulator of homotypic or heterotypic cell-cell fusion processes. Positively regulates sperm-egg fusion and may be involved in acrosome reaction (By similarity). In myoblasts, associates with CD9 and PTGFRN and inhibits myotube fusion during muscle regeneration (By similarity). In macrophages, associates with CD9 and beta-1 and beta-2 integrins, and prevents macrophage fusion into multinucleated giant cells specialized in ingesting complement-opsonized large particles . Also prevents the fusion of mononuclear cell progenitors into osteoclasts in charge of bone resorption (By similarity). May regulate the compartmentalization of enzymatic activities. In T cells, defines the subcellular localization of dNTPase SAMHD1 and permits its degradation by the proteasome, thereby controlling intracellular dNTP levels . Also involved in cell adhesion and motility. Positively regulates integrin-mediated adhesion of macrophages, particularly relevant for the inflammatory response in the lung (By similarity).
B3GALT4
Beta-1,3-galactosyltransferase 4 (Beta-1,3-GalTase 4) (Beta3Gal-T4) (Beta3GalT4) (GalT4) (b3Gal-T4) (EC 2.1.62) (Gal-T2) (Ganglioside galactosyltransferase) (UDP-galactose:beta-N-acetyl-galactosamine-beta-1,3-galactosyltransferase) O96024 FUNCTION: Involved in GM1/GD1B/GA1 ganglioside biosynthesis. SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.
CD9
CD9 antigen (5H9 antigen) (Cell growth-inhibiting gene 2 protein) (Leukocyte antigen MIC3) (Motility-related protein) (MRP-1) (Tetraspanin-29) (Tspan-29) (p24) (CD antigen CD9) P21926 FUNCTION: Integral membrane protein associated with integrins, which regulates different processes, such as sperm-egg fusion, platelet activation and aggregation, and cell adhesion (, , ). 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 . 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 . Regulates paranodal junction formation (By similarity). Involved in cell adhesion, cell motility and tumor metastasis (, ).
CLDN8
Claudin-8 P56748 FUNCTION: Tight-junction protein required for paracellular chloride transport in the kidney. Mediates recruitment of CLDN4 to tight junction in the kidney. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
CDK15
Cyclin-dependent kinase 15 (EC 2.11.22) (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 7 protein) (Cell division protein kinase 15) (Serine/threonine-protein kinase ALS2CR7) (Serine/threonine-protein kinase PFTAIRE-2) Q96Q40 FUNCTION: Serine/threonine-protein kinase that acts like an antiapoptotic protein that counters TRAIL/TNFSF10-induced apoptosis by inducing phosphorylation of BIRC5 at ‘Thr-34’.
BAZ1A
Bromodomain adjacent to zinc finger domain protein 1A (ATP-dependent chromatin-remodeling protein) (ATP-utilizing chromatin assembly and remodeling factor 1) (hACF1) (CHRAC subunit ACF1) (Williams syndrome transcription factor-related chromatin-remodeling factor 180) (WCRF180) (hWALp1) Q9NRL2 FUNCTION: Component of the ACF complex, an ATP-dependent chromatin remodeling complex, that regulates spacing of nucleosomes using ATP to generate evenly spaced nucleosomes along the chromatin. The ATPase activity of the complex is regulated by the length of flanking DNA. Also involved in facilitating the DNA replication process. BAZ1A is the accessory, non-catalytic subunit of the complex which can enhance and direct the process provided by the ATPase subunit, SMARCA5, probably through targeting pericentromeric heterochromatin in late S phase. Moves end-positioned nucleosomes to a predominantly central position. May have a role in nuclear receptor-mediated transcription repression.; FUNCTION: Component of the histone-fold protein complex CHRAC complex which facilitates nucleosome sliding by the ACF complex and enhances ACF-mediated chromatin assembly. The C-terminal regions of both CHRAC1 and POLE1 are required for these functions. SUBCELLULAR LOCATION: Nucleus. Note=May target the CHRAC complex to heterochromatin.
ARF4
ADP-ribosylation factor 4 P18085 FUNCTION: GTP-binding protein that functions as an allosteric activator of the cholera toxin catalytic subunit, an ADP-ribosyltransferase. Involved in protein trafficking; may modulate vesicle budding and uncoating within the Golgi apparatus. SUBCELLULAR LOCATION: Golgi apparatus. Membrane .
CLDN20
Claudin-20 P56880 FUNCTION: Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. SUBCELLULAR LOCATION: Cell junction, tight junction. Cell membrane; Multi-pass membrane protein.
CLUH
Clustered mitochondria protein homolog O75153 FUNCTION: mRNA-binding protein involved in proper cytoplasmic distribution of mitochondria. Specifically binds mRNAs of nuclear-encoded mitochondrial proteins in the cytoplasm and regulates transport or translation of these transcripts close to mitochondria, playing a role in mitochondrial biogenesis.
BATF
Basic leucine zipper transcriptional factor ATF-like (B-cell-activating transcription factor) (B-ATF) (SF-HT-activated gene 2 protein) (SFA-2) Q16520 FUNCTION: AP-1 family transcription factor that controls the differentiation of lineage-specific cells in the immune system: specifically mediates the differentiation of T-helper 17 cells (Th17), follicular T-helper cells (TfH), CD8(+) dendritic cells and class-switch recombination (CSR) in B-cells. Acts via the formation of a heterodimer with JUNB that recognizes and binds DNA sequence 5’-TGA[CG]TCA-3’. The BATF-JUNB heterodimer also forms a complex with IRF4 (or IRF8) in immune cells, leading to recognition of AICE sequence (5’-TGAnTCA/GAAA-3’), an immune-specific regulatory element, followed by cooperative binding of BATF and IRF4 (or IRF8) and activation of genes. Controls differentiation of T-helper cells producing interleukin-17 (Th17 cells) by binding to Th17-associated gene promoters: regulates expression of the transcription factor RORC itself and RORC target genes such as IL17 (IL17A or IL17B). Also involved in differentiation of follicular T-helper cells (TfH) by directing expression of BCL6 and MAF. In B-cells, involved in class-switch recombination (CSR) by controlling the expression of both AICDA and of germline transcripts of the intervening heavy-chain region and constant heavy-chain region (I(H)-C(H)). Following infection, can participate in CD8(+) dendritic cell differentiation via interaction with IRF4 and IRF8 to mediate cooperative gene activation. Regulates effector CD8(+) T-cell differentiation by regulating expression of SIRT1. Following DNA damage, part of a differentiation checkpoint that limits self-renewal of hematopoietic stem cells (HSCs): up-regulated by STAT3, leading to differentiation of HSCs, thereby restricting self-renewal of HSCs (By similarity).
