Human Genes Group 9 Flashcards
ZNF439
Zinc finger protein 439 Q8NDP4 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
TSPAN11
Tetraspanin-11 (Tspan-11) A1L157 SUBCELLULAR LOCATION: Membrane .
YTHDC2
3’-5’ RNA helicase YTHDC2 (EC 3.4.13) (YTH domain-containing protein 2) (hYTHDC2) Q9H6S0 FUNCTION: 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 (, ). 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 (, ). 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 . Required for both spermatogenesis and oogenesis (By similarity).
WNT1
Proto-oncogene Wnt-1 (Proto-oncogene Int-1 homolog) P04628 FUNCTION: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation (, , , ). In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling (By similarity). Plays an essential role in the development of the embryonic brain and central nervous system (CNS) (By similarity). Has a role in osteoblast function, bone development and bone homeostasis (, ).
ZNF561
Zinc finger protein 561 Q8N587 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF568
Zinc finger protein 568 Q3ZCX4 FUNCTION: Has transcriptional repression activity, partially through the recruitment of the corepressor TRIM28 but has also repression activity independently of this interaction. Essential during embryonic development, where it acts as direct repressor of a placental-specific transcript of IGF2 in early development and regulates convergent extension movements required for axis elongation and tissue morphogenesis in all germ layers. Also important for normal morphogenesis of extraembryonic tissues including the yolk sac, extraembryonic mesoderm and placenta. May enhance proliferation or maintenance of neural stem cells.
WNT3A
Protein Wnt-3a P56704 FUNCTION: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt signaling pathway that results in activation of transcription factors of the TCF/LEF family (, , , ). Required for normal embryonic mesoderm development and formation of caudal somites. Required for normal morphogenesis of the developing neural tube (By similarity). Mediates self-renewal of the stem cells at the bottom on intestinal crypts (in vitro) .
WNT5A
Protein Wnt-5a P41221 FUNCTION: Ligand for members of the frizzled family of seven transmembrane receptors. Can activate or inhibit canonical Wnt signaling, depending on receptor context. In the presence of FZD4, activates beta-catenin signaling. In the presence of ROR2, inhibits the canonical Wnt pathway by promoting beta-catenin degradation through a GSK3-independent pathway which involves down-regulation of beta-catenin-induced reporter gene expression (By similarity). Suppression of the canonical pathway allows chondrogenesis to occur and inhibits tumor formation. Stimulates cell migration. Decreases proliferation, migration, invasiveness and clonogenicity of carcinoma cells and may act as a tumor suppressor . Mediates motility of melanoma cells . Required during embryogenesis for extension of the primary anterior-posterior axis and for outgrowth of limbs and the genital tubercle. Inhibits type II collagen expression in chondrocytes (By similarity).
GGCX
Vitamin K-dependent gamma-carboxylase (EC 4.1.90) (Gamma-glutamyl carboxylase) (Peptidyl-glutamate 4-carboxylase) (Vitamin K gamma glutamyl carboxylase) P38435 FUNCTION: Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin K to vitamin K epoxide.
TJP2
Tight junction protein ZO-2 (Tight junction protein 2) (Zona occludens protein 2) (Zonula occludens protein 2) Q9UDY2 FUNCTION: Plays a role in tight junctions and adherens junctions. SUBCELLULAR LOCATION: Cell junction, adherens junction. Cell membrane .
ZRANB2
Zinc finger Ran-binding domain-containing protein 2 (Zinc finger protein 265) (Zinc finger, splicing) O95218 FUNCTION: Splice factor required for alternative splicing of TRA2B/SFRS10 transcripts. May interfere with constitutive 5’-splice site selection.
VCX2
Variable charge X-linked protein 2 (Variable charge protein on X with two repeats) (VCX-2r) (Variably charged protein X-B) (VCX-B) Q9H322 FUNCTION: May mediate a process in spermatogenesis or may play a role in sex ratio distortion.
BPY2; BPY2B; BPY2C
Testis-specific basic protein Y 2 (Basic charge, Y-linked 2) (Variably charged protein Y 2) O14599
ERVK-10
Endogenous retrovirus group K member 10 Pro protein (HERV-K10 Pro protein) (HERV-K107 Pro protein) (HERV-K_5q33.3 provirus ancestral Pro protein) (EC 3.23.50) (Protease) (Proteinase) (PR) P10265 FUNCTION: Retroviral proteases have roles in 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. This endogenous protein has retained most of the characteristics of retroviral proteases.
MYO3A
Myosin-IIIa (EC 2.11.1) Q8NEV4 FUNCTION: Probable actin-based motor with a protein kinase activity. Probably plays a role in vision and hearing . Required for normal cochlear hair bundle development and hearing. Plays an important role in the early steps of cochlear hair bundle morphogenesis. Influences the number and lengths of stereocilia to be produced and limits the growth of microvilli within the forming auditory hair bundles thereby contributing to the architecture of the hair bundle, including its staircase pattern. Involved in the elongation of actin in stereocilia tips by transporting the actin regulatory factor ESPN to the plus ends of actin filaments (By similarity).
ABCC10
Multidrug resistance-associated protein 7 (ATP-binding cassette sub-family C member 10) Q5T3U5 FUNCTION: ATP-dependent transporter probably involved in cellular detoxification through lipophilic anion extrusion.
MRNIP
MRN complex-interacting protein (MRN-interacting protein) Q6NTE8 FUNCTION: Plays a role in the cellular response to DNA damage and the maintenance of genome stability through its association with the MRN damage-sensing complex . Promotes chromatin loading and activity of the MRN complex to facilitate subsequent ATM-mediated DNA damage response signaling and DNA repair . SUBCELLULAR LOCATION: Nucleus .
NAA11
N-alpha-acetyltransferase 11 (EC 2.1.255) (N-terminal acetyltransferase complex ARD1 subunit homolog B) (hARD2) (NatA catalytic subunit Naa11) Q9BSU3 FUNCTION: Displays alpha (N-terminal) acetyltransferase activity. Proposed alternative catalytic subunit of the N-terminal acetyltransferase A (NatA) complex.
POMZP3
POM121 and ZP3 fusion protein (POM-ZP3) Q6PJE2
SLC4A1AP
Kanadaptin (Human lung cancer oncogene 3 protein) (HLC-3) (Kidney anion exchanger adapter protein) (Solute carrier family 4 anion exchanger member 1 adapter protein) Q9BWU0 SUBCELLULAR LOCATION: Nucleus . Note=Mainly nuclear. Small amounts are found in the cytoplasm.
HNRNPA0
Heterogeneous nuclear ribonucleoprotein A0 (hnRNP A0) Q13151 FUNCTION: mRNA-binding component of ribonucleosomes. Specifically binds AU-rich element (ARE)-containing mRNAs. Involved in post-transcriptional regulation of cytokines mRNAs.
POLR3E
DNA-directed RNA polymerase III subunit RPC5 (RNA polymerase III subunit C5) (DNA-directed RNA polymerase III 80 kDa polypeptide) Q9NVU0 FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. Essential for efficient transcription from both the type 2 VAI and type 3 U6 RNA polymerase III promoters. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway (By similarity). SUBCELLULAR LOCATION: Nucleus.
RPE
Ribulose-phosphate 3-epimerase (EC 5.3.1) (Ribulose-5-phosphate-3-epimerase) Q96AT9 FUNCTION: Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate.
RAPGEF4
Rap guanine nucleotide exchange factor 4 (Exchange factor directly activated by cAMP 2) (Exchange protein directly activated by cAMP 2) (EPAC 2) (cAMP-regulated guanine nucleotide exchange factor II) (cAMP-GEFII) Q8WZA2 FUNCTION: Guanine nucleotide exchange factor (GEF) for RAP1A, RAP1B and RAP2A small GTPases that is activated by binding cAMP. Seems not to activate RAB3A. Involved in cAMP-dependent, PKA-independent exocytosis through interaction with RIMS2 (By similarity).
MRPL28
39S ribosomal protein L28, mitochondrial (L28mt) (MRP-L28) (Melanoma antigen p15) (Melanoma-associated antigen recognized by T-lymphocytes) (Mitochondrial large ribosomal subunit protein bL28m) Q13084 SUBCELLULAR LOCATION: Mitochondrion .
RNASE2
Non-secretory ribonuclease (EC 4.1.18) (Eosinophil-derived neurotoxin) (RNase UpI-2) (Ribonuclease 2) (RNase 2) (Ribonuclease US) P10153 FUNCTION: This is a non-secretory ribonuclease. It is a pyrimidine specific nuclease with a slight preference for U. Cytotoxin and helminthotoxin. Selectively chemotactic for dendritic cells. Possesses a wide variety of biological activities. Cytoplasmic granule. Note=Matrix of eosinophil’s large specific granule.
RIPOR2
Rho family-interacting cell polarization regulator 2 Q9Y4F9 FUNCTION: Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization (, , , , , ). Inhibits chemokine-induced T lymphocyte responses, such as cell adhesion, polarization and migration . Involved also in the regulation of neutrophil polarization, chemotaxis and adhesion (By similarity). Required for normal development of inner and outer hair cell stereocilia within the cochlea of the inner ear (By similarity). Plays a role for maintaining the structural organization of the basal domain of stereocilia (By similarity). Involved in mechanosensory hair cell function (By similarity). Required for normal hearing .
RABEP2
Rab GTPase-binding effector protein 2 (Rabaptin-5beta) Q9H5N1 FUNCTION: Plays a role in membrane trafficking and in homotypic early endosome fusion . Participates in arteriogenesis by regulating vascular endothelial growth factor receptor 2/VEGFR2 cell surface expression and endosomal trafficking . By interacting with SDCCAG8, localizes to centrosomes and plays a critical role in ciliogenesis .
RRM2B
Ribonucleoside-diphosphate reductase subunit M2 B (EC 1.17.1) (TP53-inducible ribonucleotide reductase M2 B) (p53-inducible ribonucleotide reductase small subunit 2-like protein) (p53R2) Q7LG56 FUNCTION: Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Translocates from cytoplasm to nucleus in response to DNA damage.
PTCD3
Pentatricopeptide repeat domain-containing protein 3, mitochondrial (28S ribosomal protein S39, mitochondrial) (MRP-S39) (Mitochondrial small ribosomal subunit protein mS39) (Transformation-related gene 15 protein) (TRG-15) Q96EY7 FUNCTION: Mitochondrial RNA-binding protein that has a role in mitochondrial translation.
REXO4
RNA exonuclease 4 (EC 3.-.-) (Exonuclease XPMC2) (Prevents mitotic catastrophe 2 protein homolog) (hPMC2) Q9GZR2 SUBCELLULAR LOCATION: Nucleus, nucleolus .
PTER
Phosphotriesterase-related protein (EC 3.-.-) (Parathion hydrolase-related protein) (hPHRP) Q96BW5
PTF1A
Pancreas transcription factor 1 subunit alpha (Class A basic helix-loop-helix protein 29) (bHLHa29) (Pancreas-specific transcription factor 1a) (bHLH transcription factor p48) (p48 DNA-binding subunit of transcription factor PTF1) (PTF1-p48) Q7RTS3 FUNCTION: Transcription factor implicated in the cell fate determination in various organs. Binds to the E-box consensus sequence 5’-CANNTG-3’. Plays a role in early and late pancreas development and differentiation. Important for determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. May be involved in the maintenance of exocrine pancreas-specific gene expression including ELA1 and amylase. Required for the formation of pancreatic acinar and ductal cells. Plays an important role in cerebellar development. Directly regulated by FOXN4 and RORC during retinal development, FOXN4-PTF1A pathway plays a central role in directing the differentiation of retinal progenitors towards horizontal and amacrine fates.
RCBTB1
RCC1 and BTB domain-containing protein 1 (Chronic lymphocytic leukemia deletion region gene 7 protein) (CLL deletion region gene 7 protein) (Regulator of chromosome condensation and BTB domain-containing protein 1) Q8NDN9 FUNCTION: May be involved in cell cycle regulation by chromatin remodeling.
RAET1E
Retinoic acid early transcript 1E (Lymphocyte effector toxicity activation ligand) (NKG2D ligand 4) (N2DL-4) (NKG2DL4) (RAE-1-like transcript 4) (UL16-binding protein 4) Q8TD07 FUNCTION: Binds and activates the KLRK1/NKG2D receptor, mediating natural killer cell cytotoxicity. ; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: [Isoform 4]: Secreted.
PUM3
Pumilio homolog 3 (HBV X-transactivated gene 5 protein) (HBV XAg-transactivated protein 5) (Minor histocompatibility antigen HA-8) (HLA-HA8) Q15397 FUNCTION: Inhibits the poly(ADP-ribosyl)ation activity of PARP1 and the degradation of PARP1 by CASP3 following genotoxic stress . Binds to double-stranded RNA or DNA without sequence specificity . Involved in development of the eye and of primordial germ cells (By similarity).
PTS
6-pyruvoyl tetrahydrobiopterin synthase (PTP synthase) (PTPS) (EC 4.3.12) Q03393 FUNCTION: Involved in the biosynthesis of tetrahydrobiopterin, an essential cofactor of aromatic amino acid hydroxylases. Catalyzes the transformation of 7,8-dihydroneopterin triphosphate into 6-pyruvoyl tetrahydropterin.
SERPINB6
Serpin B6 (Cytoplasmic antiproteinase) (CAP) (Peptidase inhibitor 6) (PI-6) (Placental thrombin inhibitor) P35237 FUNCTION: May be involved in the regulation of serine proteinases present in the brain or extravasated from the blood (By similarity). Inhibitor of cathepsin G, kallikrein-8 and thrombin. May play an important role in the inner ear in the protection against leakage of lysosomal content during stress and loss of this protection results in cell death and sensorineural hearing loss.
ST3GAL4
CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4 (Alpha 2,3-ST 4) (Beta-galactoside alpha-2,3-sialyltransferase 4) (EC 2.99.2) (EC 2.99.4) (Alpha 2,3-sialyltransferase IV) (Gal-NAc6S) (Gal-beta-1,4-GalNAc-alpha-2,3-sialyltransferase) (SAT-3) (ST-4) (ST3Gal IV) (ST3GalIV) (ST3GalA.2) (STZ) (Sialyltransferase 4C) (SIAT4-C) Q11206 FUNCTION: Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, and NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. It may be involved in the biosynthesis of the sialyl Lewis X determinant. SUBCELLULAR LOCATION: 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.
TAF7
Transcription initiation factor TFIID subunit 7 (RNA polymerase II TBP-associated factor subunit F) (Transcription initiation factor TFIID 55 kDa subunit) (TAF(II)55) (TAFII-55) (TAFII55) Q15545 FUNCTION: Functions as a component of the DNA-binding general transcription factor complex TFIID, a multimeric protein complex that plays a central role in mediating promoter responses to various activators and repressors. Present in both of the previously described TFIID species which either lack or contain TAFII30 (TFIID alpha and TFIID beta respectively).
SBNO2
Protein strawberry notch homolog 2 Q9Y2G9 FUNCTION: Acts as a transcriptional coregulator, that can have both coactivator and corepressor functions. Inhibits the DCSTAMP-repressive activity of TAL1, hence enhancing the access of the transcription factor MITF to the DC-STAMP promoter in osteoclast. Plays a role in bone homeostasis; required as a positive regulator in TNFSF11//RANKL-mediated osteoclast fusion via a DCSTAMP-dependent pathway. May also be required in the regulation of osteoblast differentiation (By similarity). Involved in the transcriptional corepression of NF-kappaB in macrophages . Plays a role as a regulator in the proinflammatory cascade .
SLC5A8
Sodium-coupled monocarboxylate transporter 1 (Apical iodide transporter) (Electrogenic sodium monocarboxylate cotransporter) (Sodium iodide-related cotransporter) (Solute carrier family 5 member 8) Q8N695 FUNCTION: Acts as an electrogenic sodium (Na(+)) and chloride (Cl-)-dependent sodium-coupled solute transporter, including transport of monocarboxylates (short-chain fatty acids including L-lactate, D-lactate, pyruvate, acetate, propionate, valerate and butyrate), lactate, mocarboxylate drugs (nicotinate, benzoate, salicylate and 5-aminosalicylate) and ketone bodies (beta-D-hydroxybutyrate, acetoacetate and alpha-ketoisocaproate), with a Na(+):substrate stoichiometry of between 4:1 and 2:1. Catalyzes passive carrier mediated diffusion of iodide. Mediates iodide transport from the thyrocyte into the colloid lumen through the apical membrane. May be responsible for the absorption of D-lactate and monocarboxylate drugs from the intestinal tract. Acts as a tumor suppressor, suppressing colony formation in colon cancer, prostate cancer and glioma cell lines. May play a critical role in the entry of L-lactate and ketone bodies into neurons by a process driven by an electrochemical Na(+) gradient and hence contribute to the maintenance of the energy status and function of neurons.
S100A14
Protein S100-A14 (S100 calcium-binding protein A14) (S114) Q9HCY8 FUNCTION: Modulates P53/TP53 protein levels, and thereby plays a role in the regulation of cell survival and apoptosis. Depending on the context, it can promote cell proliferation or apoptosis. Plays a role in the regulation of cell migration by modulating the levels of MMP2, a matrix protease that is under transcriptional control of P53/TP53. Does not bind calcium.
TCF21
Transcription factor 21 (TCF-21) (Capsulin) (Class A basic helix-loop-helix protein 23) (bHLHa23) (Epicardin) (Podocyte-expressed 1) (Pod-1) O43680 FUNCTION: Involved in epithelial-mesenchymal interactions in kidney and lung morphogenesis that include epithelial differentiation and branching morphogenesis. May play a role in the specification or differentiation of one or more subsets of epicardial cell types. SUBCELLULAR LOCATION: Nucleus.
TCEAL5
Transcription elongation factor A protein-like 5 (TCEA-like protein 5) (Transcription elongation factor S-II protein-like 5) Q5H9L2 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
TNN
Tenascin-N (TN-N) (Tenascin-W) (TN-W) Q9UQP3 FUNCTION: Extracellular matrix protein that seems to be a ligand for ITGA8:ITGB1, ITGAV:ITGB1 and ITGA4:ITGB1 (By similarity) . Involved in neurite outgrowth and cell migration in hippocampal explants (By similarity). During endochondral bone formation, inhibits proliferation and differentiation of proteoblasts mediated by canonical WNT signaling (By similarity). In tumors, stimulates angiogenesis by elongation, migration and sprouting of endothelial cells . Expressed in most mammary tumors, may facilitate tumorigenesis by supporting the migratory behavior of breast cancer cells .
TENM1
Teneurin-1 (Ten-1) (Protein Odd Oz/ten-m homolog 1) (Tenascin-M1) (Ten-m1) (Teneurin transmembrane protein 1) [Cleaved into: Ten-1 intracellular domain (IDten-1) (Ten-1 ICD); Teneurin C-terminal-associated peptide (TCPA-1) (Ten-1 extracellular domain) (Ten-1 ECD)] Q9UKZ4 FUNCTION: Involved in neural development, regulating the establishment of proper connectivity within the nervous system. May function as a cellular signal transducer (By similarity).
TMEM14C
Transmembrane protein 14C Q9P0S9 FUNCTION: Required for normal heme biosynthesis.
UBE2F
NEDD8-conjugating enzyme UBE2F (EC 2.2.32) (NEDD8 carrier protein UBE2F) (NEDD8 protein ligase UBE2F) (NEDD8-conjugating enzyme 2) (RING-type E3 NEDD8 transferase UBE2F) (Ubiquitin-conjugating enzyme E2 F) Q969M7 FUNCTION: Accepts the ubiquitin-like protein NEDD8 from the UBA3-NAE1 E1 complex and catalyzes its covalent attachment to other proteins. The specific interaction with the E3 ubiquitin ligase RBX2, but not RBX1, suggests that the RBX2-UBE2F complex neddylates specific target proteins, such as CUL5.
ZNF286A
Zinc finger protein 286A Q9HBT8 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
UGP2
UTP–glucose-1-phosphate uridylyltransferase (EC 2.7.9) (UDP-glucose pyrophosphorylase) (UDPGP) (UGPase) Q16851 FUNCTION: Plays a central role as a glucosyl donor in cellular metabolic pathways. SUBCELLULAR LOCATION: Cytoplasm .
VWC2L
von Willebrand factor C domain-containing protein 2-like (Brorin-like) B2RUY7 FUNCTION: May play a role in neurogenesis. May play a role in bone differentiation and matrix mineralization.
PRSS3
Trypsin-3 (EC 3.21.4) (Brain trypsinogen) (Mesotrypsin) (Mesotrypsinogen) (Serine protease 3) (Serine protease 4) (Trypsin III) (Trypsin IV) P35030 FUNCTION: Digestive protease that cleaves proteins preferentially after an Arg residue and has proteolytic activity toward Kunitz-type trypsin inhibitors.
ZNF789
Zinc finger protein 789 Q5FWF6 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
TSPEAR-AS2
Putative uncharacterized protein TSPEAR-AS2 (TSPEAR antisense RNA 2) (TSPEAR antisense gene protein 2) P59090
ZNF740
Zinc finger protein 740 (OriLyt TD-element-binding protein 7) Q8NDX6 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF397
Zinc finger protein 397 (Zinc finger and SCAN domain-containing protein 15) (Zinc finger protein 47) Q8NF99 FUNCTION: Isoform 3 acts as a DNA-dependent transcriptional repressor. SUBCELLULAR LOCATION: [Isoform 1]: Nucleus.; SUBCELLULAR LOCATION: [Isoform 3]: Nucleus. Cytoplasm.
ZNF492
Zinc finger protein 492 (Zinc finger protein 115) Q9P255 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF471
Zinc finger protein 471 (EZFIT-related protein 1) Q9BX82 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF736
Zinc finger protein 736 B4DX44 FUNCTION: May be involved in transcriptional regulation.
ZNF844
Zinc finger protein 844 Q08AG5 FUNCTION: May be involved in transcriptional regulation.
ZNF80
Zinc finger protein 80 (ZNFpT17) P51504 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
SLC30A9
Zinc transporter 9 (ZnT-9) (Human embryonic lung protein) (HuEL) (Solute carrier family 30 member 9) Q6PML9 FUNCTION: Acts as a zinc transporter involved in intracellular zinc homeostasis . Functions as a secondary coactivator for nuclear receptors by cooperating with p160 coactivators subtypes. Plays a role in transcriptional activation of Wnt-responsive genes (By similarity).
ZNF570
Zinc finger protein 570 Q96NI8 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
TSPAN4
Tetraspanin-4 (Tspan-4) (Novel antigen 2) (NAG-2) (Transmembrane 4 superfamily member 7) O14817 SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
WNT10A
Protein Wnt-10a Q9GZT5 FUNCTION: Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays a role in normal ectoderm development (, ). Required for normal tooth development (, , ). Required for normal postnatal development and maintenance of tongue papillae and sweat ducts . Required for normal proliferation of basal cells in tongue filiform papillae, plantar epithelium and sweat ducts. Required for normal expression of keratins in tongue papillae (By similarity). Required for normal expression of KRT9 in foot plant epithelium . Required for normal hair follicle function .
VAMP2
Vesicle-associated membrane protein 2 (VAMP-2) (Synaptobrevin-2) P63027 FUNCTION: Involved in the targeting and/or fusion of transport vesicles to their target membrane. Modulates the gating characteristics of the delayed rectifier voltage-dependent potassium channel KCNB1.
VAMP4
Vesicle-associated membrane protein 4 (VAMP-4) O75379 FUNCTION: Involved in the pathway that functions to remove an inhibitor (probably synaptotagmin-4) of calcium-triggered exocytosis during the maturation of secretory granules. May be a marker for this sorting pathway that is critical for remodeling the secretory response of granule. SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane . Note=Associated with trans Golgi network (TGN) and newly formed immature secretory granules (ISG). Not found on the mature secretory organelles.
VDAC1
Voltage-dependent anion-selective channel protein 1 (VDAC-1) (hVDAC1) (Outer mitochondrial membrane protein porin 1) (Plasmalemmal porin) (Porin 31HL) (Porin 31HM) P21796 FUNCTION: Forms a channel through the mitochondrial outer membrane and also the plasma membrane. The channel at the outer mitochondrial membrane allows diffusion of small hydrophilic molecules; in the plasma membrane it is involved in cell volume regulation and apoptosis. It adopts an open conformation at low or zero membrane potential and a closed conformation at potentials above 30-40 mV. The open state has a weak anion selectivity whereas the closed state is cation-selective (, , , ). May participate in the formation of the permeability transition pore complex (PTPC) responsible for the release of mitochondrial products that triggers apoptosis (, ).
VPREB3
Pre-B lymphocyte protein 3 (N27C7-2) (Protein VPreB3) Q9UKI3 FUNCTION: Associates with the Ig-mu chain to form a molecular complex that is expressed on the surface of pre-B-cells.
VPS51
Vacuolar protein sorting-associated protein 51 homolog (Another new gene 2 protein) (Protein fat-free homolog) Q9UID3 FUNCTION: Acts as component of the GARP complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex is required for the maintenance of protein retrieval from endosomes to the TGN, acid hydrolase sorting, lysosome function, endosomal cholesterol traffic and autophagy. VPS51 participates in retrograde transport of acid hydrolase receptors, likely by promoting tethering and SNARE-dependent fusion of endosome-derived carriers to the TGN . Acts as component of the EARP complex that is involved in endocytic recycling. The EARP complex associates with Rab4-positive endosomes and promotes recycling of internalized transferrin receptor (TFRC) to the plasma membrane .
VSX1
Visual system homeobox 1 (Homeodomain protein RINX) (Retinal inner nuclear layer homeobox protein) (Transcription factor VSX1) Q9NZR4 FUNCTION: Binds to the 37-bp core of the locus control region (LCR) of the red/green visual pigment gene cluster . May regulate the activity of the LCR and the cone opsin genes at earlier stages of development . Dispensable in early retinal development (By similarity).
PLEK2
Pleckstrin-2 Q9NYT0 FUNCTION: May help orchestrate cytoskeletal arrangement. Contribute to lamellipodia formation. SUBCELLULAR LOCATION: Cell projection, lamellipodium membrane; Peripheral membrane protein. Cytoplasm, cytoskeleton.
RGS4
Regulator of G-protein signaling 4 (RGP4) (RGS4) P49798 FUNCTION: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Activity on G(z)-alpha is inhibited by phosphorylation of the G-protein. Activity on G(z)-alpha and G(i)-alpha-1 is inhibited by palmitoylation of the G-protein.
GPR65
Psychosine receptor (G-protein coupled receptor 65) (T-cell death-associated gene 8 protein) Q8IYL9 FUNCTION: Receptor for the glycosphingolipid psychosine (PSY) and several related glycosphingolipids . Plays a role in immune response by maintaining lysosome function and supporting phagocytosis-mediated intracellular bacteria clearance . May have a role in activation-induced cell death or differentiation of T-cells (By similarity).
QPCT
Glutaminyl-peptide cyclotransferase (EC 2.2.5) (Glutaminyl cyclase) (QC) (sQC) (Glutaminyl-tRNA cyclotransferase) (Glutamyl cyclase) (EC) Q16769 FUNCTION: Responsible for the biosynthesis of pyroglutamyl peptides. Has a bias against acidic and tryptophan residues adjacent to the N-terminal glutaminyl residue and a lack of importance of chain length after the second residue. Also catalyzes N-terminal pyroglutamate formation. In vitro, catalyzes pyroglutamate formation of N-terminally truncated form of APP amyloid-beta peptides [Glu-3]-amyloid-beta. May be involved in the N-terminal pyroglutamate formation of several amyloid-related plaque-forming peptides.
RETREG3
Reticulophagy regulator 3 Q86VR2 FUNCTION: Mediates NRF1-enhanced neurite outgrowth.
ST3GAL2
CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 (Alpha 2,3-ST 2) (Beta-galactoside alpha-2,3-sialyltransferase 2) (EC 2.99.4) (Gal-NAc6S) (Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase) (ST3Gal II) (ST3GalII) (ST3GalA.2) (Sialyltransferase 4B) (SIAT4-B) Q16842 FUNCTION: Responsible for the synthesis of the sequence NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- found in terminal carbohydrate groups of certain glycoproteins, oligosaccharides and glycolipids. SIAT4A and SIAT4B sialylate the same acceptor substrates but exhibit different Km values.
SNRPF
Small nuclear ribonucleoprotein F (snRNP-F) (Sm protein F) (Sm-F) (SmF) P62306 FUNCTION: Plays role in pre-mRNA splicing as core component of the SMN-Sm complex that mediates spliceosomal snRNP assembly and as component of the spliceosomal U1, U2, U4 and U5 small nuclear ribonucleoproteins (snRNPs), the building blocks of the spliceosome (, , , , , , , , ). Component of both the pre-catalytic spliceosome B complex and activated spliceosome C complexes (, , , ). Is also a component of the minor U12 spliceosome . As part of the U7 snRNP it is involved in histone 3’-end processing .
SBSN
Suprabasin Q6UWP8 SUBCELLULAR LOCATION: Secreted .
TAGLN2
Transgelin-2 (Epididymis tissue protein Li 7e) (SM22-alpha homolog) P37802
ST6GALNAC3
Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (EC 2.99.7) (GalNAc alpha-2,6-sialyltransferase III) (ST6GalNAc III) (ST6GalNAcIII) (STY) (Sialyltransferase 7C) (SIAT7-C) Q8NDV1 FUNCTION: Involved in the biosynthesis of ganglioside GD1A from GM1B. Transfers CMP-NeuAc with an alpha-2,6-linkage to GalNAc residue on NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc of glycoproteins and glycolipids. ST6GalNAcIII prefers glycolipids to glycoproteins (By similarity).
SSUH2
Protein SSUH2 homolog (Protein ssu-2 homolog) Q9Y2M2 FUNCTION: Plays a role in odontogenesis.
STAC2
SH3 and cysteine-rich domain-containing protein 2 (24b2/STAC2) (Src homology 3 and cysteine-rich domain-containing protein 2) Q6ZMT1 FUNCTION: Plays a redundant role in promoting the expression of calcium channel CACNA1S at the cell membrane, and thereby contributes to increased channel activity. Slows down the inactivation rate of the calcium channel CACNA1C.
SCAF8
SR-related and CTD-associated factor 8 (CDC5L complex-associated protein 7) (RNA-binding motif protein 16) Q9UPN6 FUNCTION: Anti-terminator protein required to prevent early mRNA termination during transcription . Together with SCAF4, acts by suppressing the use of early, alternative poly(A) sites, thereby preventing the accumulation of non-functional truncated proteins . Mechanistically, associates with the phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit (POLR2A), and subsequently binds nascent RNA upstream of early polyadenylation sites to prevent premature mRNA transcript cleavage and polyadenylation . Independently of SCAF4, also acts as a positive regulator of transcript elongation .
STAT5B
Signal transducer and activator of transcription 5B P51692 FUNCTION: Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Binds to the GAS element and activates PRL-induced transcription. Positively regulates hematopoietic/erythroid differentiation.
AARS
Alanine–tRNA ligase, cytoplasmic (EC 6.1.7) (Alanyl-tRNA synthetase) (AlaRS) (Renal carcinoma antigen NY-REN-42) P49588 FUNCTION: Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala) (, , ). Also edits incorrectly charged tRNA(Ala) via its editing domain (, , ).
SLC22A23
Solute carrier family 22 member 23 A1A5C7 SUBCELLULAR LOCATION: Membrane .
VARS
Valine–tRNA ligase (EC 6.1.9) (Protein G7a) (Valyl-tRNA synthetase) (ValRS) P26640
SLC26A6
Solute carrier family 26 member 6 (Anion exchange transporter) (Pendrin-like protein 1) (Pendrin-L1) Q9BXS9 FUNCTION: Apical membrane anion-exchanger with wide epithelial distribution that plays a role as a component of the pH buffering system for maintaining acid-base homeostasis. Acts as a versatile DIDS-sensitive inorganic and organic anion transporter that mediates the uptake of monovalent anions like chloride, bicarbonate, formate and hydroxyl ion and divalent anions like sulfate and oxalate. Function in multiple exchange modes involving pairs of these anions, which include chloride-bicarbonate, chloride-oxalate, oxalate-formate, oxalate-sulfate and chloride-formate exchange. Apical membrane chloride-bicarbonate exchanger that mediates luminal chloride absorption and bicarbonate secretion by the small intestinal brush border membrane and contributes to intracellular pH regulation in the duodenal upper villous epithelium during proton-coupled peptide absorption, possibly by providing a bicarbonate import pathway. Mediates also intestinal chloride absorption and oxalate secretion, thereby preventing hyperoxaluria and calcium oxalate urolithiasis. Transepithelial oxalate secretion, chloride-formate, chloride-oxalate and chloride-bicarbonate transport activities in the duodenum are inhibited by PKC activation in a calcium-independent manner. The apical membrane chloride-bicarbonate exchanger provides also a major route for fluid and bicarbonate secretion into the proximal tubules of the kidney as well as into the proximal part of the interlobular pancreatic ductal tree, where it mediates electrogenic chloride-bicarbonate exchange with a chloride-bicarbonate stoichiometry of 1:2, and hence will dilute and alkalinize protein-rich acinar secretion. Mediates also the transcellular sulfate absorption and oxalate secretion across the apical membrane in the duodenum and the formate ion efflux at the apical brush border of cells in the proximal tubules of kidney. Plays a role in sperm capacitation by increasing intracellular pH.; FUNCTION: [Isoform 4]: Apical membrane chloride-bicarbonate exchanger. Its association with carbonic anhydrase CA2 forms a bicarbonate transport metabolon; hence maximizes the local concentration of bicarbonate at the transporter site. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Apical cell membrane .; SUBCELLULAR LOCATION: [Isoform 4]: Cell membrane; Multi-pass membrane protein. Apical cell membrane; Multi-pass membrane protein. Basolateral cell membrane; Multi-pass membrane protein. Note=Localizes to the apical and basolateral surfaces of tubular wall cells in kidney and in the brush border of pancreatic duct cells.; SUBCELLULAR LOCATION: [Isoform 5]: Cell membrane; Multi-pass membrane protein.; SUBCELLULAR LOCATION: [Isoform 6]: Cell membrane; Multi-pass membrane protein.
ST20-AS1
Putative uncharacterized protein ST20-AS1 (ST20 antisense RNA 1) (ST20 antisense gene protein 1) Q8NBB2
SMIM21
Small integral membrane protein 21 Q3B7S5 SUBCELLULAR LOCATION: Membrane .
RTCA
RNA 3’-terminal phosphate cyclase (RNA cyclase) (RNA-3’-phosphate cyclase) (EC 6.1.4) (RNA terminal phosphate cyclase domain-containing protein 1) (RTC domain-containing protein 1) O00442 FUNCTION: Catalyzes the conversion of 3’-phosphate to a 2’,3’-cyclic phosphodiester at the end of RNA. The mechanism of action of the enzyme occurs in 3 steps: (A) adenylation of the enzyme by ATP; (B) transfer of adenylate to an RNA-N3’P to produce RNA-N3’PP5’A; (C) and attack of the adjacent 2’-hydroxyl on the 3’-phosphorus in the diester linkage to produce the cyclic end product. The biological role of this enzyme is unknown but it is likely to function in some aspects of cellular RNA processing. SUBCELLULAR LOCATION: Nucleus, nucleoplasm.
TBC1D19
TBC1 domain family member 19 Q8N5T2 FUNCTION: May act as a GTPase-activating protein for Rab family protein(s).
TP53TG3; TP53TG3B; TP53TG3C; TP53TG3D; TP53TG3E; TP53TG3F
TP53-target gene 3 protein (TP53-inducible gene 3 protein) Q9ULZ0 FUNCTION: May play a significant role in p53/TP53-mediating signaling pathway.
TBC1D7
TBC1 domain family member 7 (Cell migration-inducing protein 23) Q9P0N9 FUNCTION: Component of the TSC-TBC complex, that contains TBC1D7 in addition to the TSC1-TSC2 complex and consists of the functional complex possessing GTPase-activating protein (GAP) activity toward RHEB in response to alterations in specific cellular growth conditions. The small GTPase RHEB is a direct activator of the protein kinase activity of mTORC1 and the TSC-TBC complex acts as a negative regulator of mTORC1 signaling cascade by acting as a GAP for RHEB. Participates in the proper sensing of growth factors and glucose, but not amino acids, by mTORC1. It is unclear whether TBC1D7 acts as a GTPase-activating protein and additional studies are required to answer this question. Note=Localizes in the cytoplasmic vesicles of the endomembrane in association with TSC1-TSC2 complex.
TRPC7
Short transient receptor potential channel 7 (TrpC7) (Transient receptor protein 7) (TRP-7) (hTRP7) Q9HCX4 FUNCTION: Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) (By similarity). May also be activated by intracellular calcium store depletion.
TBX4
T-box transcription factor TBX4 (T-box protein 4) P57082 FUNCTION: Involved in the transcriptional regulation of genes required for mesoderm differentiation. Probably plays a role in limb pattern formation. SUBCELLULAR LOCATION: Nucleus .
TIMM21
Mitochondrial import inner membrane translocase subunit Tim21 (TIM21-like protein, mitochondrial) Q9BVV7 FUNCTION: 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.
TCEAL8
Transcription elongation factor A protein-like 8 (TCEA-like protein 8) (Transcription elongation factor S-II protein-like 8) Q8IYN2 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
TCN2
Transcobalamin-2 (TC-2) (Transcobalamin II) (TC II) (TCII) P20062 FUNCTION: Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells.
TCP11
T-complex protein 11 homolog Q8WWU5 FUNCTION: Plays a role in the process of sperm capacitation and acrosome reactions. Probable receptor for the putative fertilization-promoting peptide (FPP) at the sperm membrane that may modulate the activity of the adenylyl cyclase cAMP pathway.
TJAP1
Tight junction-associated protein 1 (Protein incorporated later into tight junctions) (Tight junction protein 4) Q5JTD0 SUBCELLULAR LOCATION: Golgi apparatus .
TRBJ1-3
T cell receptor beta joining 1-3 A0A0J9YWP8 FUNCTION: J region of the variable domain of T cell receptor (TR) beta chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
TDH
Inactive L-threonine 3-dehydrogenase, mitochondrial (Short chain dehydrogenase/reductase family 14E member 1 pseudogene) Q8IZJ6 SUBCELLULAR LOCATION: Mitochondrion .
TLCD3B
Ceramide synthase (EC 2.1.-) (Protein FAM57B) (TLC domain-containing protein 3B) Q71RH2 FUNCTION: Involved in ceramide synthesis.
ZNF280C
Zinc finger protein 280C (Suppressor of hairy wing homolog 3) (Zinc finger protein 633) Q8ND82 FUNCTION: May function as a transcription factor. SUBCELLULAR LOCATION: Nucleus .
TLDC2
TLD domain-containing protein 2 (TBC/LysM-associated domain-containing protein 2) A0PJX2
RPS4X
40S ribosomal protein S4, X isoform (SCR10) (Single copy abundant mRNA protein) (Small ribosomal subunit protein eS4) P62701 SUBCELLULAR LOCATION: Cytoplasm . Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.
TRAV20
T cell receptor alpha variable 20 A0A0B4J274 FUNCTION: V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
TRAV12-3
T cell receptor alpha variable 12-3 A0A0B4J271 FUNCTION: V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
TRAV16
T cell receptor alpha variable 16 A0A0A6YYK6 FUNCTION: V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
TRAV38-1
T cell receptor alpha variable 38-1 A0A0B4J264 FUNCTION: V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
TRAV8-6
T cell receptor alpha variable 8-6 A0A0B4J262 FUNCTION: V region of the variable domain of T cell receptor (TR) alpha chain that participates in the antigen recognition . Alpha-beta T cell receptors are antigen specific receptors which are essential to the immune response and are present on the cell surface of T lymphocytes. Recognize peptide-major histocompatibility (MH) (pMH) complexes that are displayed by antigen presenting cells (APC), a prerequisite for efficient T cell adaptive immunity against pathogens . Binding of alpha-beta TR to pMH complex initiates TR-CD3 clustering on the cell surface and intracellular activation of LCK that phosphorylates the ITAM motifs of CD3G, CD3D, CD3E and CD247 enabling the recruitment of ZAP70. In turn ZAP70 phosphorylates LAT, which recruits numerous signaling molecules to form the LAT signalosome. The LAT signalosome propagates signal branching to three major signaling pathways, the calcium, the mitogen-activated protein kinase (MAPK) kinase and the nuclear factor NF-kappa-B (NF-kB) pathways, leading to the mobilization of transcription factors that are critical for gene expression and essential for T cell growth and differentiation . The T cell repertoire is generated in the thymus, by V-(D)-J rearrangement. This repertoire is then shaped by intrathymic selection events to generate a peripheral T cell pool of self-MH restricted, non-autoaggressive T cells. Post-thymic interaction of alpha-beta TR with the pMH complexes shapes TR structural and functional avidity .
NME9
Thioredoxin domain-containing protein 6 (Thioredoxin-like protein 2) (Txl-2) Q86XW9 FUNCTION: May be a regulator of microtubule physiology. SUBCELLULAR LOCATION: Cytoplasm .
USP51
Ubiquitin carboxyl-terminal hydrolase 51 (EC 3.19.12) (Deubiquitinating enzyme 51) (Ubiquitin thioesterase 51) (Ubiquitin-specific-processing protease 51) Q70EK9 FUNCTION: Specifically deubiquitinates ‘Lys-14’ (H2AK13Ub) and ‘Lys-16’(H2AK15Ub) of histone H2A regulating the DNA damage response at double-strand breaks (DSBs) . USP51 is recruited to chromatin after DNA damage and regulates the dynamic assembly/disassembly of TP53BP1 and BRCA1. Exhibits also activity for ‘Lys-27’ or ‘Lys-63’-linked di-ubiquitin .
ZBTB21
Zinc finger and BTB domain-containing protein 21 (Zinc finger protein 295) Q9ULJ3 FUNCTION: Acts as a transcription repressor. Note=Colocalizes with ZBTB14 in nucleus in HEK293 cells.
TYROBP
TYRO protein tyrosine kinase-binding protein (DNAX-activation protein 12) (Killer-activating receptor-associated protein) (KAR-associated protein) O43914 FUNCTION: Adapter protein which non-covalently associates with activating receptors found on the surface of a variety of immune cells to mediate signaling and cell activation following ligand binding by the receptors (, , ). TYROBP is tyrosine-phosphorylated in the ITAM domain following ligand binding by the associated receptors which leads to activation of additional tyrosine kinases and subsequent cell activation . Also has an inhibitory role in some cells . Non-covalently associates with activating receptors of the CD300 family to mediate cell activation (, , ; ). Also mediates cell activation through association with activating receptors of the CD200R family (By similarity). Required for neutrophil activation mediated by integrin (By similarity). Required for the activation of myeloid cells mediated by the CLEC5A/MDL1 receptor . Associates with natural killer (NK) cell receptors such as KIR2DS2 and the KLRD1/KLRC2 heterodimer to mediate NK cell activation (, , ). Also enhances trafficking and cell surface expression of NK cell receptors KIR2DS1, KIR2DS2 and KIR2DS4 and ensures their stability at the cell surface . Associates with SIRPB1 to mediate activation of myeloid cells such as monocytes and dendritic cells . Associates with TREM1 to mediate activation of neutrophils and monocytes . Associates with TREM2 on monocyte-derived dendritic cells to mediate up-regulation of chemokine receptor CCR7 and dendritic cell maturation and survival . Association with TREM2 mediates cytokine-induced formation of multinucleated giant cells which are formed by the fusion of macrophages . Stabilizes the TREM2 C-terminal fragment (TREM2-CTF) produced by TREM2 ectodomain shedding which suppresses the release of pro-inflammatory cytokines . In microglia, required with TREM2 for phagocytosis of apoptotic neurons (By similarity). Required with ITGAM/CD11B in microglia to control production of microglial superoxide ions which promote the neuronal apoptosis that occurs during brain development (By similarity). Promotes proinflammatory responses in microglia following nerve injury which accelerates degeneration of injured neurons (By similarity). Positively regulates the expression of the IRAK3/IRAK-M kinase and IL10 production by liver dendritic cells and inhibits their T cell allostimulatory ability (By similarity). Negatively regulates B cell proliferation . Required for CSF1-mediated osteoclast cytoskeletal organization (By similarity). Positively regulates multinucleation during osteoclast development (By similarity).
ZBTB47
Zinc finger and BTB domain-containing protein 47 (Zinc finger protein 651) Q9UFB7 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZFP14
Zinc finger protein 14 homolog (Zfp-14) (Zinc finger protein 531) Q9HCL3 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZFAT
Zinc finger protein ZFAT (Zinc finger gene in AITD susceptibility region) (Zinc finger protein 406) Q9P243 FUNCTION: May be involved in transcriptional regulation. Overexpression causes down-regulation of a number of genes involved in the immune response. Some genes are also up-regulated (By similarity).
UIMC1
BRCA1-A complex subunit RAP80 (Receptor-associated protein 80) (Retinoid X receptor-interacting protein 110) (Ubiquitin interaction motif-containing protein 1) Q96RL1 FUNCTION: Ubiquitin-binding protein . Specifically recognizes and binds ‘Lys-63’-linked ubiquitin (, Ref.37). Plays a central role in the BRCA1-A complex by specifically binding ‘Lys-63’-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes ‘Lys-63’-linked ubiquitin on histones H2A and H2AX. Also weakly binds monoubiquitin but with much less affinity than ‘Lys-63’-linked ubiquitin. May interact with monoubiquitinated histones H2A and H2B; the relevance of such results is however unclear in vivo. Does not bind Lys-48’-linked ubiquitin. May indirectly act as a transcriptional repressor by inhibiting the interaction of NR6A1 with the corepressor NCOR1. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs).
UHMK1
Serine/threonine-protein kinase Kist (EC 2.11.1) (Kinase interacting with stathmin) (PAM COOH-terminal interactor protein 2) (P-CIP2) (U2AF homology motif kinase 1) Q8TAS1 FUNCTION: Upon serum stimulation, phosphorylates CDKN1B/p27Kip1, thus controlling CDKN1B subcellular location and cell cycle progression in G1 phase. May be involved in trafficking and/or processing of RNA (By similarity).
WDR1
WD repeat-containing protein 1 (Actin-interacting protein 1) (AIP1) (NORI-1) O75083 FUNCTION: Induces disassembly of actin filaments in conjunction with ADF/cofilin family proteins . Enhances cofilin-mediated actin severing (By similarity). Involved in cytokinesis. Involved in chemotactic cell migration by restricting lamellipodial membrane protrusions . Involved in myocardium sarcomere organization. Required for cardiomyocyte growth and maintenance (By similarity). Involved in megakaryocyte maturation and platelet shedding. Required for the establishment of planar cell polarity (PCP) during follicular epithelium development and for cell shape changes during PCP; the function seems to implicate cooperation with CFL1 and/or DSTN/ADF. Involved in the generation/maintenance of cortical tension (By similarity). Involved in assembly and maintenance of epithelial apical cell junctions and plays a role in the organization of the perijunctional actomyosin belt .
WDR19
WD repeat-containing protein 19 (Intraflagellar transport 144 homolog) Q8NEZ3 FUNCTION: As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in cilia function and/or assembly . Essential for functional IFT-A assembly and ciliary entry of GPCRs . Associates with the BBSome complex to mediate ciliary transport (By similarity).
WDR47
WD repeat-containing protein 47 (Neuronal enriched MAP-interacting protein) (Nemitin) O94967 SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton .
ULK3
Serine/threonine-protein kinase ULK3 (EC 2.11.1) (Unc-51-like kinase 3) Q6PHR2 FUNCTION: Serine/threonine protein kinase that acts as a regulator of Sonic hedgehog (SHH) signaling and autophagy. Acts as a negative regulator of SHH signaling in the absence of SHH ligand: interacts with SUFU, thereby inactivating the protein kinase activity and preventing phosphorylation of GLI proteins (GLI1, GLI2 and/or GLI3). Positively regulates SHH signaling in the presence of SHH: dissociates from SUFU, autophosphorylates and mediates phosphorylation of GLI2, activating it and promoting its nuclear translocation. Phosphorylates in vitro GLI2, as well as GLI1 and GLI3, although less efficiently. Also acts as a regulator of autophagy: following cellular senescence, able to induce autophagy. Note=Localizes to pre-autophagosomal structure during cellular senescence.
WFDC10A
WAP four-disulfide core domain protein 10A (Putative protease inhibitor WAP10A) Q9H1F0 SUBCELLULAR LOCATION: Secreted .
ZNF730
Putative zinc finger protein 730 Q6ZMV8 FUNCTION: May be involved in transcriptional regulation.
ZNF845
Zinc finger protein 845 Q96IR2 FUNCTION: May be involved in transcriptional regulation.
TSGA10
Testis-specific gene 10 protein (Testis development protein NYD-SP7) Q9BZW7 FUNCTION: Plays a role in spermatogenesis . When overexpressed, prevents nuclear localization of HIF1A (By similarity).
ZNF483
Zinc finger protein 483 (Zinc finger protein with KRAB and SCAN domains 16) Q8TF39 FUNCTION: May be involved in transcriptional regulation. SUBCELLULAR LOCATION: Nucleus .
ZNF732
Zinc finger protein 732 B4DXR9 FUNCTION: May be involved in transcriptional regulation.
ZNF496
Zinc finger protein 496 (Zinc finger protein with KRAB and SCAN domains 17) Q96IT1 FUNCTION: DNA-binding transcription factor that can both act as an activator and a repressor.
ZNF830
Zinc finger protein 830 (Coiled-coil domain-containing protein 16) Q96NB3 FUNCTION: May play a role in pre-mRNA splicing as component of the spliceosome . Acts as an important regulator of the cell cycle that participates in the maintenance of genome integrity. During cell cycle progression in embryonic fibroblast, prevents replication fork collapse, double-strand break formation and cell cycle checkpoint activation. Controls mitotic cell cycle progression and cell survival in rapidly proliferating intestinal epithelium and embryonic stem cells. During the embryo preimplantation, controls different aspects of M phase. During early oocyte growth, plays a role in oocyte survival by preventing chromosomal breaks formation, activation of TP63 and reduction of transcription (By similarity).
SLC18A1
Chromaffin granule amine transporter (Solute carrier family 18 member 1) (Vesicular amine transporter 1) (VAT1) P54219 FUNCTION: Involved in the transport of biogenic monoamines, such as serotonin, from the cytoplasm into the secretory vesicles of neuroendocrine and endocrine cells.
TTPA
Alpha-tocopherol transfer protein (Alpha-TTP) P49638 FUNCTION: Binds alpha-tocopherol, enhances its transfer between separate membranes, and stimulates its release from liver cells . Binds both phosphatidylinol 3,4-bisphosphate and phosphatidylinol 4,5-bisphosphate; the resulting conformation change is important for the release of the bound alpha-tocopherol (By similarity).
TTTY12
Putative transcript Y 12 protein Q9BZ98
NEURL1
E3 ubiquitin-protein ligase NEURL1 (EC 2.2.27) (Neuralized-like protein 1A) (h-neu) (h-neuralized 1) (RING finger protein 67) (RING-type E3 ubiquitin transferase NEURL1) O76050 FUNCTION: Plays a role in hippocampal-dependent synaptic plasticity, learning and memory. Involved in the formation of spines and functional synaptic contacts by modulating the translational activity of the cytoplasmic polyadenylation element-binding protein CPEB3. Promotes ubiquitination of CPEB3, and hence induces CPEB3-dependent mRNA translation activation of glutamate receptor GRIA1 and GRIA2. Can function as an E3 ubiquitin-protein ligase to activate monoubiquitination of JAG1 (in vitro), thereby regulating the Notch pathway. Acts as a tumor suppressor; inhibits malignant cell transformation of medulloblastoma (MB) cells by inhibiting the Notch signaling pathway.
MTERF3
Transcription termination factor 3, mitochondrial (Mitochondrial transcription termination factor 3) (mTERF3) (mTERF domain-containing protein 1, mitochondrial) Q96E29 FUNCTION: Binds promoter DNA and regulates initiation of transcription . Required for normal mitochondrial transcription and translation, and for normal assembly of mitochondrial respiratory complexes. Required for normal mitochondrial function (By similarity). Maintains 16S rRNA levels and functions in mitochondrial ribosome assembly by regulating the biogenesis of the 39S ribosomal subunit (By similarity).
MTFR1
Mitochondrial fission regulator 1 (Chondrocyte protein with a poly-proline region) Q15390 FUNCTION: May play a role in mitochondrial aerobic respiration. May also regulate mitochondrial organization and fission (By similarity).
NME2P1
Putative nucleoside diphosphate kinase (NDK) (NDP kinase) (EC 2.4.6) O60361 FUNCTION: Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate (By similarity).
PLAGL1
Zinc finger protein PLAGL1 (Lost on transformation 1) (LOT-1) (Pleiomorphic adenoma-like protein 1) (Tumor suppressor ZAC) Q9UM63 FUNCTION: Acts as a transcriptional activator . Involved in the transcriptional regulation of type 1 receptor for pituitary adenylate cyclase-activating polypeptide.
PNOC
Prepronociceptin [Cleaved into: Nocistatin; Nociceptin (Orphanin FQ) (PPNOC); Orphanin FQ2] Q13519 FUNCTION: [Nociceptin]: Ligand of the opioid receptor-like receptor OPRL1. It may act as a transmitter in the brain by modulating nociceptive and locomotor behavior. May be involved in neuronal differentiation and development. SUBCELLULAR LOCATION: Secreted.
TMEM123
Porimin (Keratinocytes-associated transmembrane protein 3) (KCT-3) (Pro-oncosis receptor inducing membrane injury) (Transmembrane protein 123) Q8N131 FUNCTION: Implicated in oncotic cell death, characterized by cell swelling, organelle swelling, vacuolization and increased membrane permeability.
MRE11
Double-strand break repair protein MRE11 (EC 3.-.-) (Double-strand break repair protein MRE11A) (Meiotic recombination 11 homolog 1) (MRE11 homolog 1) (Meiotic recombination 11 homolog A) (MRE11 homolog A) P49959 FUNCTION: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity and meiosis (, , , , ). The complex possesses single-strand endonuclease activity and double-strand-specific 3’-5’ exonuclease activity, which are provided by MRE11 (, , , , ). RAD50 may be required to bind DNA ends and hold them in close proximity (, , , , ). This could facilitate searches for short or long regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases and/or restrict the nuclease activity of MRE11 to prevent nucleolytic degradation past a given point (, , , , , ). The complex may also be required for DNA damage signaling via activation of the ATM kinase . In telomeres the MRN complex may modulate t-loop formation .
SPTBN5
Spectrin beta chain, non-erythrocytic 5 (Beta-V spectrin) Q9NRC6 SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Note=Detected prominently in the outer segments of photoreceptor rods and cones and in the basolateral membrane and cytosol of gastric epithelial cells.
SUPT16H
FACT complex subunit SPT16 (Chromatin-specific transcription elongation factor 140 kDa subunit) (FACT 140 kDa subunit) (FACTp140) (Facilitates chromatin transcription complex subunit SPT16) (hSPT16) Q9Y5B9 FUNCTION: Component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment of the nucleosome following the passage of RNA polymerase II. The FACT complex is probably also involved in phosphorylation of ‘Ser-392’ of p53/TP53 via its association with CK2 (casein kinase II). Note=Colocalizes with RNA polymerase II on chromatin. Recruited to actively transcribed loci.
SAP30L
Histone deacetylase complex subunit SAP30L (HCV non-structural protein 4A-transactivated protein 2) (Sin3 corepressor complex subunit SAP30L) (Sin3-associated protein p30-like) Q9HAJ7 FUNCTION: [Isoform 1]: Functions as transcription repressor, probably via its interaction with histone deacetylase complexes (, ). Involved in the functional recruitment of the class 1 Sin3-histone deacetylase complex (HDAC) to the nucleolus . Binds DNA, apparently without sequence-specificity, and bends bound double-stranded DNA . Binds phosphoinositol phosphates (phosphoinositol 3-phosphate, phosphoinositol 4-phosphate and phosphoinositol 5-phosphate) via the same basic sequence motif that mediates DNA binding and nuclear import (, ).
SPACA7
Sperm acrosome-associated protein 7 Q96KW9 FUNCTION: Involved in fertilization. Seems not to play a direct role in sperm-egg binding or gamete fusion.
TNFSF12
Tumor necrosis factor ligand superfamily member 12 (APO3 ligand) (TNF-related weak inducer of apoptosis) (TWEAK) [Cleaved into: Tumor necrosis factor ligand superfamily member 12, membrane form; Tumor necrosis factor ligand superfamily member 12, secreted form] O43508 FUNCTION: Binds to FN14 and possibly also to TNRFSF12/APO3. Weak inducer of apoptosis in some cell types. Mediates NF-kappa-B activation. Promotes angiogenesis and the proliferation of endothelial cells. Also involved in induction of inflammatory cytokines. Promotes IL8 secretion.; SUBCELLULAR LOCATION: [Tumor necrosis factor ligand superfamily member 12, secreted form]: Secreted.; SUBCELLULAR LOCATION: [Isoform TWE-PRIL]: Cell membrane; Single-pass membrane protein.
SRBD1
S1 RNA-binding domain-containing protein 1 Q8N5C6
SETMAR
Histone-lysine N-methyltransferase SETMAR (SET domain and mariner transposase fusion protein) (Metnase) [Includes: Histone-lysine N-methyltransferase (EC 2.1.-); Transposon Hsmar1 transposase (EC 3.-.-)] Q53H47 FUNCTION: Protein derived from the fusion of a methylase with the transposase of an Hsmar1 transposon that plays a role in DNA double-strand break repair, stalled replication fork restart and DNA integration. DNA-binding protein, it is indirectly recruited to sites of DNA damage through protein-protein interactions. Has also kept a sequence-specific DNA-binding activity recognizing the 19-mer core of the 5’-terminal inverted repeats (TIRs) of the Hsmar1 element and displays a DNA nicking and end joining activity (, , , , , , , ). In parallel, has a histone methyltransferase activity and methylates ‘Lys-4’ and ‘Lys-36’ of histone H3. Specifically mediates dimethylation of H3 ‘Lys-36’ at sites of DNA double-strand break and may recruit proteins required for efficient DSB repair through non-homologous end-joining (, , ). Also regulates replication fork processing, promoting replication fork restart and regulating DNA decatenation through stimulation of the topoisomerase activity of TOP2A (, ).
SPAAR
Small regulatory polypeptide of amino acid response A0A1B0GVQ0 FUNCTION: [Isoform 2]: Negative regulator of amino acid sensing and mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels and amino acids . Negatively regulates mTORC1 activation by inhibiting recruitment of mTORC1 to lysosomes upon stimulation with amino acids: acts by promoting the formation of a tightly bound supercomplex composed of the lysosomal V-ATPase, Ragulator and Rag GTPases, preventing recruitment of mTORC1 . Acts as a regulator of muscle regeneration following injury by regulating mTORC1 activation (By similarity).
LTB
Lymphotoxin-beta (LT-beta) (Tumor necrosis factor C) (TNF-C) (Tumor necrosis factor ligand superfamily member 3) Q06643 FUNCTION: Cytokine that binds to LTBR/TNFRSF3. May play a specific role in immune response regulation. Provides the membrane anchor for the attachment of the heterotrimeric complex to the cell surface. Isoform 2 is probably non-functional. SUBCELLULAR LOCATION: Membrane .
SLC28A2
Sodium/nucleoside cotransporter 2 (Concentrative nucleoside transporter 2) (CNT 2) (hCNT2) (Na(+)/nucleoside cotransporter 2) (Sodium-coupled nucleoside transporter 2) (Sodium/purine nucleoside co-transporter) (SPNT) (Solute carrier family 28 member 2) O43868 FUNCTION: Sodium-dependent and purine-selective transporter. Exhibits the transport characteristics of the nucleoside transport system cif or N1 subtype (N1/cif) (selective for purine nucleosides and uridine). Plays a critical role in specific uptake and salvage of purine nucleosides in kidney and other tissues. SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
SPATA31D3
Spermatogenesis-associated protein 31D3 (Protein FAM75D3) P0C874 FUNCTION: May play a role in spermatogenesis.
TNNC1
Troponin C, slow skeletal and cardiac muscles (TN-C) P63316 FUNCTION: Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments.
SF3B6
Splicing factor 3B subunit 6 (Pre-mRNA branch site protein p14) (SF3b 14 kDa subunit) (SF3B14a) (Spliceosome-associated protein, 14-kDa) (Splicing factor 3b, subunit 6, 14kDa) Q9Y3B4 FUNCTION: Involved in pre-mRNA splicing as a component of the splicing factor SF3B complex . SF3B complex is required for ‘A’ complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA . Directly contacts the pre-mRNA branch site adenosine for the first catalytic step of splicing . Enters the spliceosome and associates with the pre-mRNA branch site as part of the 17S U2 or, in the case of the minor spliceosome, as part of the 18S U11/U12 snRNP complex, and thus may facilitate the interaction of these snRNP with the branch sites of U2 and U12 respectively .
SIK1B
Probable serine/threonine-protein kinase SIK1B (EC 2.11.1) (Salt-inducible kinase 1B) A0A0B4J2F2 FUNCTION: Probable serine/threonine-protein kinase.
SLC35F5
Solute carrier family 35 member F5 (Hepatitis C virus NS5A-transactivated protein 3) (HCV NS5A-transactivated protein 3) Q8WV83 FUNCTION: Putative solute transporter.
SRGN
Serglycin (Hematopoietic proteoglycan core protein) (Platelet proteoglycan core protein) (P.PG) (Secretory granule proteoglycan core protein) P10124 FUNCTION: Plays a role in formation of mast cell secretory granules and mediates storage of various compounds in secretory vesicles. Required for storage of some proteases in both connective tissue and mucosal mast cells and for storage of granzyme B in T-lymphocytes. Plays a role in localizing neutrophil elastase in azurophil granules of neutrophils. Mediates processing of MMP2. Plays a role in cytotoxic cell granule-mediated apoptosis by forming a complex with granzyme B which is delivered to cells by perforin to induce apoptosis. Regulates the secretion of TNF-alpha and may also regulate protease secretion. Inhibits bone mineralization.
SLC35G1
Solute carrier family 35 member G1 (Partner of STIM1) (Transmembrane protein 20) Q2M3R5 FUNCTION: May play a role in intracellular calcium sensing and homeostasis. May act as a negative regulator of plasma membrane calcium-transporting ATPases preventing calcium efflux from the cell. Note=Translocates from the endoplasmic reticulum to the cell membrane in response to a depletion of intracellular calcium and is detected at punctae corresponding to junctions between the endoplasmic reticulum and the cell membrane.
SMIM28
Small integral membrane protein 28 A0A1B0GU29 SUBCELLULAR LOCATION: Membrane .
