Human Genes Group 10 Flashcards
TMEM275
Transmembrane protein 275 A0A0U1RQS6 SUBCELLULAR LOCATION: Membrane .
STEAP4
Metalloreductase STEAP4 (EC 1.16.9) (Six-transmembrane epithelial antigen of prostate 4) (SixTransMembrane protein of prostate 2) (Tumor necrosis factor, alpha-induced protein 9) Q687X5 FUNCTION: Integral membrane protein that functions as NADPH-dependent ferric-chelate reductase, using NADPH from one side of the membrane to reduce a Fe(3+) chelate that is bound on the other side of the membrane. Mediates sequential transmembrane electron transfer from NADPH to FAD and onto heme, and finally to the Fe(3+) chelate . Can also reduce Cu(2+) to Cu(1+) (By similarity). Plays a role in systemic metabolic homeostasis, integrating inflammatory and metabolic responses (By similarity). Associated with obesity and insulin-resistance (, ). Involved in inflammatory arthritis, through the regulation of inflammatory cytokines . Inhibits anchorage-independent cell proliferation .
TMEM35A
Transmembrane protein 35A Q53FP2 FUNCTION: A soluble peptide released by shedding may interact with NGFR and modulate neurite outgrowth.
TMEM86A
Lysoplasmalogenase-like protein TMEM86A (Transmembrane protein 86A) Q8N2M4 SUBCELLULAR LOCATION: Membrane .
GTF2A1
Transcription initiation factor IIA subunit 1 (General transcription factor IIA subunit 1) (TFIIAL) (Transcription initiation factor TFIIA 42 kDa subunit) (TFIIA-42) [Cleaved into: Transcription initiation factor IIA alpha chain (TFIIA p35 subunit); Transcription initiation factor IIA beta chain (TFIIA p19 subunit)] P52655 FUNCTION: TFIIA is a component of the transcription machinery of RNA polymerase II and plays an important role in transcriptional activation. TFIIA in a complex with TBP mediates transcriptional activity. SUBCELLULAR LOCATION: Nucleus.
TMEM87B
Transmembrane protein 87B Q96K49 FUNCTION: May be involved in retrograde transport from endosomes to the trans-Golgi network (TGN).
TMEM88B
Transmembrane protein 88B A6NKF7 SUBCELLULAR LOCATION: Membrane .
TMCC1
Transmembrane and coiled-coil domains protein 1 O94876 FUNCTION: Endoplasmic reticulum membrane protein that promotes endoplasmic reticulum-associated endosome fission . Localizes to contact sites between the endoplasmic reticulum and endosomes and acts by promoting recruitment of the endoplasmic reticulum to endosome tubules for fission . Endosome membrane fission of early and late endosomes is essential to separate regions destined for lysosomal degradation from carriers to be recycled to the plasma membrane .
TMCO2
Transmembrane and coiled-coil domain-containing protein 2 Q7Z6W1 SUBCELLULAR LOCATION: Membrane .
TMEM94
Transmembrane protein 94 Q12767 SUBCELLULAR LOCATION: Membrane .
CARS
Cysteine–tRNA ligase, cytoplasmic (EC 6.1.16) (Cysteinyl-tRNA synthetase) (CysRS) P49589 SUBCELLULAR LOCATION: Cytoplasm.
STIM1
Stromal interaction molecule 1 Q13586 FUNCTION: Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores (, , , , , , , , , , , , , , , ). Acts as Ca(2+) sensor in the endoplasmic reticulum via its EF-hand domain. Upon Ca(2+) depletion, translocates from the endoplasmic reticulum to the plasma membrane where it activates the Ca(2+) release-activated Ca(2+) (CRAC) channel subunit ORAI1 (, ). Involved in enamel formation . Activated following interaction with STIMATE, leading to promote STIM1 conformational switch .
TMOD4
Tropomodulin-4 (Skeletal muscle tropomodulin) (Sk-Tmod) Q9NZQ9 FUNCTION: Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton .
TMPPE
Transmembrane protein with metallophosphoesterase domain (EC 3.-.-) Q6ZT21 SUBCELLULAR LOCATION: Membrane .
TMPRSS2
Transmembrane protease serine 2 (EC 3.21.-) (Serine protease 10) [Cleaved into: Transmembrane protease serine 2 non-catalytic chain; Transmembrane protease serine 2 catalytic chain] O15393 FUNCTION: Serine protease that proteolytically cleaves and activates the viral spike glycoproteins which facilitate virus-cell membrane fusions; spike proteins are synthesized and maintained in precursor intermediate folding states and proteolysis permits the refolding and energy release required to create stable virus-cell linkages and membrane coalescence. Facilitates human SARS coronavirus (SARS-CoV) infection via two independent mechanisms, proteolytic cleavage of ACE2, which might promote viral uptake, and cleavage of coronavirus spike glycoprotein which activates the glycoprotein for cathepsin L-independent host cell entry. Proteolytically cleaves and activates the spike glycoproteins of human coronavirus 229E (HCoV-229E) and human coronavirus EMC (HCoV-EMC) and the fusion glycoproteins F0 of Sendai virus (SeV), human metapneumovirus (HMPV), human parainfluenza 1, 2, 3, 4a and 4b viruses (HPIV). Essential for spread and pathogenesis of influenza A virus (strains H1N1, H3N2 and H7N9); involved in proteolytic cleavage and activation of hemagglutinin (HA) protein which is essential for viral infectivity.
SYCN
Syncollin (Insulin synthesis-associated protein 1) Q0VAF6 FUNCTION: Functions in exocytosis in pancreatic acinar cells regulating the fusion of zymogen granules with each other. May have a pore-forming activity on membranes and regulate exocytosis in other exocrine tissues (By similarity).
TMEM173
Stimulator of interferon genes protein (hSTING) (Endoplasmic reticulum interferon stimulator) (ERIS) (Mediator of IRF3 activation) (hMITA) (Transmembrane protein 173) Q86WV6 FUNCTION: Facilitator of innate immune signaling that acts as a sensor of cytosolic DNA from bacteria and viruses and promotes the production of type I interferon (IFN-alpha and IFN-beta) (, , , , , , , ). Innate immune response is triggered in response to non-CpG double-stranded DNA from viruses and bacteria delivered to the cytoplasm . Acts by binding cyclic dinucleotides: recognizes and binds cyclic di-GMP (c-di-GMP), a second messenger produced by bacteria, and cyclic GMP-AMP (cGAMP), a messenger produced by CGAS in response to DNA virus in the cytosol (, , , , , , , ). Upon binding of c-di-GMP or cGAMP, TMEM173/STING oligomerizes, translocates from the endoplasmic reticulum and is phosphorylated by TBK1 on the pLxIS motif, leading to recruitment and subsequent activation of the transcription factor IRF3 to induce expression of type I interferon and exert a potent anti-viral state (, , ). In addition to promote the production of type I interferons, plays a direct role in autophagy (, ). Following cGAMP-binding, TMEM173/STING buds from the endoplasmic reticulum into COPII vesicles, which then form the endoplasmic reticulum-Golgi intermediate compartment (ERGIC) . The ERGIC serves as the membrane source for WIPI2 recruitment and LC3 lipidation, leading to formation of autophagosomes that target cytosolic DNA or DNA viruses for degradation by the lysosome . The autophagy- and interferon-inducing activities can be uncoupled and autophagy induction is independent of TBK1 phosphorylation (, ). Autophagy is also triggered upon infection by bacteria: following c-di-GMP-binding, which is produced by live Gram-positive bacteria, promotes reticulophagy (By similarity). Exhibits 2’,3’ phosphodiester linkage-specific ligand recognition: can bind both 2’-3’ linked cGAMP (2’-3’-cGAMP) and 3’-3’ linked cGAMP but is preferentially activated by 2’-3’ linked cGAMP (, , ). The preference for 2’-3’-cGAMP, compared to other linkage isomers is probably due to the ligand itself, whichs adopts an organized free-ligand conformation that resembles the TMEM173/STING-bound conformation and pays low energy costs in changing into the active conformation . May be involved in translocon function, the translocon possibly being able to influence the induction of type I interferons . May be involved in transduction of apoptotic signals via its association with the major histocompatibility complex class II (MHC-II) (By similarity).
SYCP2
Synaptonemal complex protein 2 (SCP-2) (Synaptonemal complex lateral element protein) (hsSCP2) Q9BX26 FUNCTION: Major component of the axial/lateral elements of synaptonemal complexes (SCS) during meiotic prophase. Plays a role in the assembly of synaptonemal complexes. Required for normal meiotic chromosome synapsis during oocyte and spermatocyte development and for normal male and female fertility. Required for insertion of SYCP3 into synaptonemal complexes. May be involved in the organization of chromatin by temporarily binding to DNA scaffold attachment regions. Requires SYCP3, but not SYCP1, in order to be incorporated into the axial/lateral elements.
STIP1
Stress-induced-phosphoprotein 1 (STI1) (Hsc70/Hsp90-organizing protein) (Hop) (Renal carcinoma antigen NY-REN-11) (Transformation-sensitive protein IEF SSP 3521) P31948 FUNCTION: Acts as a co-chaperone for HSP90AA1 . Mediates the association of the molecular chaperones HSPA8/HSC70 and HSP90 (By similarity).
TMPRSS6
Transmembrane protease serine 6 (EC 3.21.-) (Matriptase-2) Q8IU80 FUNCTION: Serine protease which hydrolyzes a range of proteins including type I collagen, fibronectin and fibrinogen. Can also activate urokinase-type plasminogen activator with low efficiency. May play a specialized role in matrix remodeling processes in liver. Through the cleavage of HJV, a regulator of the expression of the iron absorption-regulating hormone hepicidin/HAMP, plays a role in iron homeostasis.
TRPM3
Transient receptor potential cation channel subfamily M member 3 (Long transient receptor potential channel 3) (LTrpC-3) (LTrpC3) (Melastatin-2) (MLSN2) Q9HCF6 FUNCTION: Calcium channel mediating constitutive calcium ion entry. Its activity is increased by reduction in extracellular osmolarity, by store depletion and muscarinic receptor activation.
TMPRSS13
Transmembrane protease serine 13 (EC 3.21.-) (Membrane-type mosaic serine protease) (Mosaic serine protease) Q9BYE2 SUBCELLULAR LOCATION: Membrane .
TMTC1
Protein O-mannosyl-transferase TMTC1 (EC 2.1.109) (Transmembrane and TPR repeat-containing protein 1) Q8IUR5 FUNCTION: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3.
TMTC2
Protein O-mannosyl-transferase TMTC2 (EC 2.1.109) (Transmembrane and TPR repeat-containing protein 2) Q8N394 FUNCTION: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3.
TMTC3
Protein O-mannosyl-transferase TMTC3 (EC 2.1.109) (Protein SMILE) (Transmembrane and TPR repeat-containing protein 3) Q6ZXV5 FUNCTION: Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3 . Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response.
TRPM5
Transient receptor potential cation channel subfamily M member 5 (Long transient receptor potential channel 5) (LTrpC-5) (LTrpC5) (MLSN1- and TRP-related gene 1 protein) Q9NZQ8 FUNCTION: Voltage-modulated Ca(2+)-activated, monovalent cation channel (VCAM) that mediates a transient membrane depolarization and plays a central role in taste transduction. Monovalent-specific, non-selective cation channel that mediates the transport of Na(+), K(+) and Cs(+) ions equally well. Activated directly by increases in intracellular Ca(2+), but is impermeable to it. Gating is voltage-dependent and displays rapid activation and deactivation kinetics upon channel stimulation even during sustained elevations in Ca(2+). Also activated by a fast intracellular Ca(2+) increase in response to inositol 1,4,5-triphosphate-producing receptor agonists. The channel is blocked by extracellular acidification. External acidification has 2 effects, a fast reversible block of the current and a slower irreversible enhancement of current inactivation. Is a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. Heat activation is due to a shift of the voltage-dependent activation curve to negative potentials. Activated by arachidonic acid in vitro. May be involved in perception of bitter, sweet and umami tastes. May also be involved in sensing semiochemicals.
TMX1
Thioredoxin-related transmembrane protein 1 (Thioredoxin domain-containing protein 1) (Transmembrane Trx-related protein) Q9H3N1 FUNCTION: May participate in various redox reactions through the reversible oxidation of its active center dithiol to a disulfide and catalyze dithiol-disulfide exchange reactions. SUBCELLULAR LOCATION: Membrane .
TMX2
Thioredoxin-related transmembrane protein 2 (Cell proliferation-inducing gene 26 protein) (Thioredoxin domain-containing protein 14) Q9Y320 SUBCELLULAR LOCATION: Membrane .
STK16
Serine/threonine-protein kinase 16 (EC 2.11.1) (Myristoylated and palmitoylated serine/threonine-protein kinase) (MPSK) (Protein kinase PKL12) (TGF-beta-stimulated factor 1) (TSF-1) (Tyrosine-protein kinase STK16) (EC 2.10.2) (hPSK) O75716 FUNCTION: Membrane-associated protein kinase that phosphorylates on serine and threonine residues. In vitro substrates include DRG1, ENO1 and EIF4EBP1. Also autophosphorylates. May be involved in secretory vesicle trafficking or intracellular signaling. May have a role in regulating stromal-epithelial interactions that occur during ductal morphogenesis in the mammary gland. May be involved in TGF-beta signaling. Able to autophosphorylate on Tyr residue; it is however unclear whether it has tyrosine-protein kinase toward other proteins.
TRPM7
Transient receptor potential cation channel subfamily M member 7 (EC 2.11.1) (Channel-kinase 1) (Long transient receptor potential channel 7) (LTrpC-7) (LTrpC7) Q96QT4 FUNCTION: Essential ion channel and serine/threonine-protein kinase. Divalent cation channel permeable to calcium and magnesium. Has a central role in magnesium ion homeostasis and in the regulation of anoxic neuronal cell death. Involved in TNF-induced necroptosis downstream of MLKL by mediating calcium influx. The kinase activity is essential for the channel function. May be involved in a fundamental process that adjusts plasma membrane divalent cation fluxes according to the metabolic state of the cell. Phosphorylates annexin A1 (ANXA1).
TYW1B
S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1B (EC 4.3.44) (Radical S-adenosyl methionine and flavodoxin domain-containing protein 2) (tRNA wybutosine-synthesizing protein 1 homolog B) Q6NUM6 FUNCTION: Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3’-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the condensation of N-methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity).
TYW1
S-adenosyl-L-methionine-dependent tRNA 4-demethylwyosine synthase TYW1 (EC 4.3.44) (Radical S-adenosyl methionine and flavodoxin domain-containing protein 1) (tRNA wybutosine-synthesizing protein 1 homolog) (tRNA-yW-synthesizing protein) Q9NV66 FUNCTION: Probable component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3’-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the condensation of N-methylguanine with 2 carbon atoms from pyruvate to form the tricyclic 4-demethylwyosine, an intermediate in wybutosine biosynthesis (By similarity).
TRMT12
tRNA wybutosine-synthesizing protein 2 homolog (tRNA-yW-synthesizing protein 2) (EC 2.1.114) (tRNA(Phe) (4-demethylwyosine(37)-C(7)) aminocarboxypropyltransferase) Q53H54 FUNCTION: S-adenosyl-L-methionine-dependent transferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3’-position adjacent to the anticodon of eukaryotic phenylalanine tRNA. Catalyzes the transfer of the alpha-amino-alpha-carboxypropyl (acp) group from S-adenosyl-L-methionine to the C-7 position of 4-demethylwyosine (imG-14) to produce wybutosine-86.
TYW3
tRNA wybutosine-synthesizing protein 3 homolog (tRNA-yW-synthesizing protein 3) (EC 2.1.282) (tRNA(Phe) 7-((3-amino-3-carboxypropyl)-4-demethylwyosine(37)-N(4))-methyltransferase) Q6IPR3 FUNCTION: Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3’-position adjacent to the anticodon of eukaryotic phenylalanine tRNA (By similarity).
TRPM8
Transient receptor potential cation channel subfamily M member 8 (Long transient receptor potential channel 6) (LTrpC-6) (LTrpC6) (Transient receptor potential p8) (Trp-p8) Q7Z2W7 FUNCTION: Receptor-activated non-selective cation channel involved in detection of sensations such as coolness, by being activated by cold temperature below 25 degrees Celsius. Activated by icilin, eucalyptol, menthol, cold and modulation of intracellular pH. Involved in menthol sensation. Permeable for monovalent cations sodium, potassium, and cesium and divalent cation calcium. Temperature sensing is tightly linked to voltage-dependent gating. Activated upon depolarization, changes in temperature resulting in graded shifts of its voltage-dependent activation curves. The chemical agonist menthol functions as a gating modifier, shifting activation curves towards physiological membrane potentials. Temperature sensitivity arises from a tenfold difference in the activation energies associated with voltage-dependent opening and closing. In prostate cancer cells, shows strong inward rectification and high calcium selectivity in contrast to its behavior in normal cells which is characterized by outward rectification and poor cationic selectivity. Plays a role in prostate cancer cell migration . Isoform 2 and isoform 3 negatively regulate menthol- and cold-induced channel activity by stabilizing the closed state of the channel.
STK24
Serine/threonine-protein kinase 24 (EC 2.11.1) (Mammalian STE20-like protein kinase 3) (MST-3) (STE20-like kinase MST3) [Cleaved into: Serine/threonine-protein kinase 24 36 kDa subunit (Mammalian STE20-like protein kinase 3 N-terminal) (MST3/N); Serine/threonine-protein kinase 24 12 kDa subunit (Mammalian STE20-like protein kinase 3 C-terminal) (MST3/C)] Q9Y6E0 FUNCTION: Serine/threonine-protein kinase that acts on both serine and threonine residues and promotes apoptosis in response to stress stimuli and caspase activation. Mediates oxidative-stress-induced cell death by modulating phosphorylation of JNK1-JNK2 (MAPK8 and MAPK9), p38 (MAPK11, MAPK12, MAPK13 and MAPK14) during oxidative stress. Plays a role in a staurosporine-induced caspase-independent apoptotic pathway by regulating the nuclear translocation of AIFM1 and ENDOG and the DNase activity associated with ENDOG. Phosphorylates STK38L on ‘Thr-442’ and stimulates its kinase activity. In association with STK26 negatively regulates Golgi reorientation in polarized cell migration upon RHO activation . Regulates also cellular migration with alteration of PTPN12 activity and PXN phosphorylation: phosphorylates PTPN12 and inhibits its activity and may regulate PXN phosphorylation through PTPN12. May act as a key regulator of axon regeneration in the optic nerve and radial nerve. SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Membrane. Note=The truncated form (MST3/N) translocates to the nucleus. Colocalizes with STK38L in the membrane.
ACAA2
3-ketoacyl-CoA thiolase, mitochondrial (EC 2.1.16) (Acetyl-CoA acetyltransferase) (EC 2.1.9) (Acetyl-CoA acyltransferase) (Acyl-CoA hydrolase, mitochondrial) (EC 3.2.-) (EC 3.2.1) (EC 3.2.2) (Beta-ketothiolase) (Mitochondrial 3-oxoacyl-CoA thiolase) (T1) P42765 FUNCTION: In the production of energy from fats, this is one of the enzymes that catalyzes the last step of the mitochondrial beta-oxidation pathway, an aerobic process breaking down fatty acids into acetyl-CoA (Probable). Using free coenzyme A/CoA, catalyzes the thiolytic cleavage of medium- to long-chain unbranched 3-oxoacyl-CoAs into acetyl-CoA and a fatty acyl-CoA shortened by two carbon atoms (Probable). Also catalyzes the condensation of two acetyl-CoA molecules into acetoacetyl-CoA and could be involved in the production of ketone bodies (Probable). Also displays hydrolase activity on various fatty acyl-CoAs . Thereby, could be responsible for the production of acetate in a side reaction to beta-oxidation (Probable). Abolishes BNIP3-mediated apoptosis and mitochondrial damage .
LCMT2
tRNA wybutosine-synthesizing protein 4 (tRNA yW-synthesizing protein 4) (EC 2.1.290) (EC 2.1.231) (Leucine carboxyl methyltransferase 2) (tRNA(Phe) (7-(3-amino-3-(methoxycarbonyl)propyl)wyosine(37)-N)-methoxycarbonyltransferase) (tRNA(Phe) (7-(3-amino-3-carboxypropyl)wyosine(37)-O)-methyltransferase) O60294 FUNCTION: Probable S-adenosyl-L-methionine-dependent methyltransferase that acts as a component of the wybutosine biosynthesis pathway. Wybutosine is a hyper modified guanosine with a tricyclic base found at the 3’-position adjacent to the anticodon of eukaryotic phenylalanine tRNA (By similarity). May methylate the carboxyl group of leucine residues to form alpha-leucine ester residues.
STK36
Serine/threonine-protein kinase 36 (EC 2.11.1) (Fused homolog) Q9NRP7 FUNCTION: Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors . Controls the activity of the transcriptional regulators GLI1, GLI2 and GLI3 by opposing the effect of SUFU and promoting their nuclear localization . GLI2 requires an additional function of STK36 to become transcriptionally active, but the enzyme does not need to possess an active kinase catalytic site for this to occur . Required for postnatal development, possibly by regulating the homeostasis of cerebral spinal fluid or ciliary function (By similarity). Essential for construction of the central pair apparatus of motile cilia.
TRPV2
Transient receptor potential cation channel subfamily V member 2 (TrpV2) (Osm-9-like TRP channel 2) (OTRPC2) (Vanilloid receptor-like protein 1) (VRL-1) Q9Y5S1 FUNCTION: Calcium-permeable, non-selective cation channel with an outward rectification. Seems to be regulated, at least in part, by IGF-I, PDGF and neuropeptide head activator. May transduce physical stimuli in mast cells. Activated by temperatures higher than 52 degrees Celsius; is not activated by vanilloids and acidic pH.
TRPV4
Transient receptor potential cation channel subfamily V member 4 (TrpV4) (Osm-9-like TRP channel 4) (OTRPC4) (Transient receptor potential protein 12) (TRP12) (Vanilloid receptor-like channel 2) (Vanilloid receptor-like protein 2) (VRL-2) (Vanilloid receptor-related osmotically-activated channel) (VR-OAC) Q9HBA0 FUNCTION: Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity. Activation by exposure to hypotonicity within the physiological range exhibits an outward rectification (, ). Also activated by heat, low pH, citrate and phorbol esters (, , , , , ). Increase of intracellular Ca(2+) potentiates currents. Channel activity seems to be regulated by a calmodulin-dependent mechanism with a negative feedback mechanism (, ). Promotes cell-cell junction formation in skin keratinocytes and plays an important role in the formation and/or maintenance of functional intercellular barriers (By similarity). Acts as a regulator of intracellular Ca(2+) in synoviocytes . Plays an obligatory role as a molecular component in the nonselective cation channel activation induced by 4-alpha-phorbol 12,13-didecanoate and hypotonic stimulation in synoviocytes and also regulates production of IL-8 . Together with PKD2, forms mechano- and thermosensitive channels in cilium . Negatively regulates expression of PPARGC1A, UCP1, oxidative metabolism and respiration in adipocytes (By similarity). Regulates expression of chemokines and cytokines related to proinflammatory pathway in adipocytes (By similarity). Together with AQP5, controls regulatory volume decrease in salivary epithelial cells (By similarity). Required for normal development and maintenance of bone and cartilage .
ZBTB48
Telomere zinc finger-associated protein (TZAP) (Krueppel-related zinc finger protein 3) (hKR3) (Zinc finger and BTB domain-containing protein 48) (Zinc finger protein 855) P10074 FUNCTION: Telomere-binding protein that acts as a regulator of telomere length (, ). Directly binds the telomeric double-stranded 5’-TTAGGG-3’ repeat (, ). Preferentially binds to telomeres that have a low concentration of shelterin complex and acts as a regulator of telomere length by initiating telomere trimming, a process that prevents the accumulation of aberrantly long telomeres . Also acts as a transcription regulator that binds to promoter regions (, , ). Regulates expression of a small subset of genes, including MTFP1 . Regulates expression the J and/or S elements in MHC II promoter . Acts as a negative regulator of cell proliferation by specifically activating expression of ARF, a tumor suppressor isoform of CDKN2A .
USP17L1
Ubiquitin carboxyl-terminal hydrolase 17-like protein 1 (EC 3.19.12) (Deubiquitinating enzyme 17-like protein 1) (Ubiquitin thioesterase 17-like protein 1) (Ubiquitin-specific-processing protease 17-like protein 1) Q7RTZ2 FUNCTION: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.
USP17L5
Ubiquitin carboxyl-terminal hydrolase 17-like protein 5 (EC 3.19.12) (Deubiquitinating enzyme 17-like protein 5) (Ubiquitin thioesterase 17-like protein 5) (Ubiquitin-specific-processing protease 17-like protein 5) A8MUK1 FUNCTION: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.
USP17L10
Ubiquitin carboxyl-terminal hydrolase 17-like protein 10 (EC 3.19.12) C9JJH3 FUNCTION: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.
USP17L11
Ubiquitin carboxyl-terminal hydrolase 17-like protein 11 (EC 3.19.12) C9JVI0 FUNCTION: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.
TFB1M
Dimethyladenosine transferase 1, mitochondrial (EC 2.1.-) (Mitochondrial 12S rRNA dimethylase 1) (Mitochondrial transcription factor B1) (h-mtTFB) (h-mtTFB1) (hTFB1M) (mtTFB1) (S-adenosylmethionine-6-N’, N’-adenosyl(rRNA) dimethyltransferase 1) Q8WVM0 FUNCTION: S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity.
USP17L22
Ubiquitin carboxyl-terminal hydrolase 17-like protein 22 (EC 3.19.12) D6RA61 FUNCTION: Deubiquitinating enzyme that removes conjugated ubiquitin from specific proteins to regulate different cellular processes that may include cell proliferation, progression through the cell cycle, apoptosis, cell migration, and the cellular response to viral infection.
MRPS11
28S ribosomal protein S11, mitochondrial (MRP-S11) (S11mt) (Cervical cancer proto-oncogene 2 protein) (HCC-2) (Mitochondrial small ribosomal subunit protein uS11m) P82912 SUBCELLULAR LOCATION: Mitochondrion .
TBC1D10C
Carabin (TBC1 domain family member 10C) Q8IV04 FUNCTION: Inhibits the Ras signaling pathway through its intrinsic Ras GTPase-activating protein (GAP) activity. Acts as a negative feedback inhibitor of the calcineurin signaling pathway that also mediates crosstalk between calcineurin and Ras.
THEMIS
Protein THEMIS (Thymocyte-expressed molecule involved in selection) Q8N1K5 FUNCTION: Plays a central role in late thymocyte development by controlling both positive and negative T-cell selection. Required to sustain and/or integrate signals required for proper lineage commitment and maturation of T-cells. Regulates T-cell development through T-cell antigen receptor (TCR) signaling and in particular through the regulation of calcium influx and phosphorylation of Erk.
THEMIS2
Protein THEMIS2 (Induced by contact to basement membrane 1 protein) (Protein ICB-1) (Thymocyte-expressed molecule involved in selection protein 2) Q5TEJ8 FUNCTION: May constitute a control point in macrophage inflammatory response, promoting LPS-induced TNF production.
MRPS12
28S ribosomal protein S12, mitochondrial (MRP-S12) (S12mt) (MT-RPS12) (Mitochondrial small ribosomal subunit protein uS12m) O15235 SUBCELLULAR LOCATION: Mitochondrion .
XIRP2
Xin actin-binding repeat-containing protein 2 (Beta-xin) (Cardiomyopathy-associated protein 3) (Xeplin) A4UGR9 FUNCTION: Protects actin filaments from depolymerization.
STOX1
Storkhead-box protein 1 (Winged-helix domain-containing protein) Q6ZVD7 FUNCTION: Involved in regulating the levels of reactive oxidative species and reactive nitrogen species and in mitochondrial homeostasis in the placenta . Required for regulation of inner ear epithelial cell proliferation via the AKT signaling pathway (By similarity).; SUBCELLULAR LOCATION: [Isoform B]: Nucleus.; SUBCELLULAR LOCATION: [Isoform C]: Nucleus, nucleolus.
TMEM106A
Transmembrane protein 106A Q96A25 FUNCTION: Activates macrophages and polarizes them into M1-like macrophages through the activation of the MAPK and NF-kappaB signaling pathway. Upon activation, upregulates the expression of CD80, CD86, CD69 and MHC II on macrophages, and induces the release of pro-inflammatory cytokines such as TNF, IL1B, IL6, CCL2 and nitric oxide (By similarity). May play a role in inhibition of proliferation and migration (, ).
TBC1D22B
TBC1 domain family member 22B Q9NU19 FUNCTION: May act as a GTPase-activating protein for Rab family protein(s).
MRPS15
28S ribosomal protein S15, mitochondrial (MRP-S15) (S15mt) (Mitochondrial small ribosomal subunit protein uS15m) P82914 SUBCELLULAR LOCATION: Mitochondrion .
MRPS16
28S ribosomal protein S16, mitochondrial (MRP-S16) (S16mt) (Mitochondrial small ribosomal subunit protein bS16m) Q9Y3D3 SUBCELLULAR LOCATION: Mitochondrion .
TUBA1B
Tubulin alpha-1B chain (Alpha-tubulin ubiquitous) (Tubulin K-alpha-1) (Tubulin alpha-ubiquitous chain) [Cleaved into: Detyrosinated tubulin alpha-1B chain] P68363 FUNCTION: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain. SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
TMEM184A
Transmembrane protein 184A Q6ZMB5 FUNCTION: Acts as a heparin receptor in vascular cells (By similarity). May be involved in vesicle transport in exocrine cells and Sertoli cells (By similarity).
STRADA
STE20-related kinase adapter protein alpha (STRAD alpha) (STE20-related adapter protein) (Serologically defined breast cancer antigen NY-BR-96) Q7RTN6 FUNCTION: Pseudokinase which, in complex with CAB39/MO25 (CAB39/MO25alpha or CAB39L/MO25beta), binds to and activates STK11/LKB1. Adopts a closed conformation typical of active protein kinases and binds STK11/LKB1 as a pseudosubstrate, promoting conformational change of STK11/LKB1 in an active conformation.
TMEM183A
Transmembrane protein 183A Q8IXX5 SUBCELLULAR LOCATION: Membrane .
TFF1
Trefoil factor 1 (Breast cancer estrogen-inducible protein) (PNR-2) (Polypeptide P1.A) (hP1.A) (Protein pS2) P04155 FUNCTION: Stabilizer of the mucous gel overlying the gastrointestinal mucosa that provides a physical barrier against various noxious agents. May inhibit the growth of calcium oxalate crystals in urine.
TFG
Protein TFG (TRK-fused gene protein) Q92734 FUNCTION: Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules (, ). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus .
TFF2
Trefoil factor 2 (Spasmolysin) (Spasmolytic polypeptide) (SP) Q03403 FUNCTION: Inhibits gastrointestinal motility and gastric acid secretion. Could function as a structural component of gastric mucus, possibly by stabilizing glycoproteins in the mucus gel through interactions with carbohydrate side chains (By similarity). SUBCELLULAR LOCATION: Secreted.
TMEM229A
Transmembrane protein 229A B2RXF0 SUBCELLULAR LOCATION: Membrane .
TMEM200B
Transmembrane protein 200B (Transmembrane protein TTMA) (Two transmembrane domain-containing family member B) Q69YZ2 SUBCELLULAR LOCATION: Membrane .
TUBB2B
Tubulin beta-2B chain Q9BVA1 FUNCTION: Tubulin is the major constituent of microtubules (, , ). It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). Plays a critical role in proper axon guidance in both central and peripheral axon tracts . Implicated in neuronal migration .
TRUB1
Probable tRNA pseudouridine synthase 1 (EC 5.99.-) Q8WWH5 FUNCTION: Pseudouridine synthase that catalyzes pseudouridylation of mRNAs . Mediates pseudouridylation of mRNAs with the consensus sequence 5’-GUUCNANNC-3’, harboring a stem-loop structure . Constitutes the major pseudouridine synthase acting on mRNAs .
THY1
Thy-1 membrane glycoprotein (CDw90) (Thy-1 antigen) (CD antigen CD90) P04216 FUNCTION: May play a role in cell-cell or cell-ligand interactions during synaptogenesis and other events in the brain. SUBCELLULAR LOCATION: Cell membrane .
STS
Steryl-sulfatase (EC 3.6.2) (Arylsulfatase C) (ASC) (Estrone sulfatase) (Steroid sulfatase) (Steryl-sulfate sulfohydrolase) P08842 FUNCTION: Catalyzes the conversion of sulfated steroid precursors, such as dehydroepiandrosterone sulfate (DHEA-S) and estrone sulfate to the free steroid. ; Multi-pass membrane protein.
NDFIP2
NEDD4 family-interacting protein 2 (NEDD4 WW domain-binding protein 5A) (Putative MAPK-activating protein PM04/PM05/PM06/PM07) (Putative NF-kappa-B-activating protein 413) Q9NV92 FUNCTION: Activates HECT domain-containing E3 ubiquitin-protein ligases, including ITCH, NEDD4, NEDD4L, SMURF2, WWP1 and WWP2, and consequently modulates the stability of their targets. As a result, may control many cellular processes. Recruits ITCH, NEDD4 and SMURF2 to endosomal membranes. Negatively regulates KCNH2 potassium channel activity by decreasing its cell-surface expression and interfering with channel maturation through recruitment of NEDD4L to the Golgi apparatus and multivesicular body where it mediates KCNH2 degradation . May modulate EGFR signaling. Together with NDFIP1, limits the cytokine signaling and expansion of effector Th2 T-cells by promoting degradation of JAK1, probably by ITCH- and NEDD4L-mediated ubiquitination (By similarity).
NFU1
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial (HIRA-interacting protein 5) Q9UMS0 FUNCTION: Iron-sulfur cluster scaffold protein which can assemble [4Fe-4S] clusters and deliver them to target proteins. SUBCELLULAR LOCATION: Mitochondrion. Cytoplasm, cytosol.
NT5M
5’(3’)-deoxyribonucleotidase, mitochondrial (5’,3’-nucleotidase, mitochondrial) (EC 3.3.-) (Deoxy-5’-nucleotidase 2) (dNT-2) Q9NPB1 FUNCTION: Dephosphorylates specifically the 5’ and 2’(3’)-phosphates of uracil and thymine deoxyribonucleotides, and so protects mitochondrial DNA replication from excess dTTP. Has only marginal activity towards dIMP and dGMP.
MYRIP
Rab effector MyRIP (Exophilin-8) (Myosin-VIIa- and Rab-interacting protein) (Synaptotagmin-like protein lacking C2 domains C) (SlaC2-c) (Slp homolog lacking C2 domains c) Q8NFW9 FUNCTION: Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor proteins MYO5A and MYO7A. May link RAB27A-containing vesicles to actin filaments. Functions as a protein kinase A-anchoring protein (AKAP). May act as a scaffolding protein that links PKA to components of the exocytosis machinery, thus facilitating exocytosis, including insulin release (By similarity).
FAM192A
PSME3-interacting protein (NEFA-interacting nuclear protein NIP30) (PA28G-interacting protein) Q9GZU8 FUNCTION: Promotes the association of the proteasome activator complex subunit PSME3 with the 20S proteasome and regulates its activity. Inhibits PSME3-mediated degradation of some proteasome substrates, probably by affecting their diffusion rate into the catalytic chamber of the proteasome. Also inhibits the interaction of PSME3 with COIL, inhibits accumulation of PSME3 in Cajal bodies and positively regulates the number of Cajal bodies in the nucleus.
MRPL52
39S ribosomal protein L52, mitochondrial (L52mt) (MRP-L52) (Mitochondrial large ribosomal subunit protein mL52) Q86TS9 SUBCELLULAR LOCATION: Mitochondrion .
SLC25A17
Peroxisomal membrane protein PMP34 (34 kDa peroxisomal membrane protein) (Solute carrier family 25 member 17) O43808 FUNCTION: Peroxisomal transporter for multiple cofactors like coenzyme A (CoA), flavin adenine dinucleotide (FAD), flavin mononucleotide (FMN) and nucleotide adenosine monophosphate (AMP), and to a lesser extent for nicotinamide adenine dinucleotide (NAD(+)), adenosine diphosphate (ADP) and adenosine 3’,5’-diphosphate (PAP). May catalyze the transport of free CoA, FAD and NAD(+) from the cytosol into the peroxisomal matrix by a counter-exchange mechanism. Inhibited by pyridoxal 5’-phosphate and bathophenanthroline in vitro. SUBCELLULAR LOCATION: Cytoplasm. Peroxisome membrane; Multi-pass membrane protein.
PNMA6F
Paraneoplastic antigen Ma6F A0A0J9YX94
MRPL54
39S ribosomal protein L54, mitochondrial (L54mt) (MRP-L54) (Mitochondrial large ribosomal subunit protein mL54) Q6P161 SUBCELLULAR LOCATION: Mitochondrion .
PIR
Pirin (EC 1.13.11.24) (Probable quercetin 2,3-dioxygenase PIR) (Probable quercetinase) O00625 FUNCTION: Transcriptional coregulator of NF-kappa-B which facilitates binding of NF-kappa-B proteins to target kappa-B genes in a redox-state-dependent manner. May be required for efficient terminal myeloid maturation of hematopoietic cells. Has quercetin 2,3-dioxygenase activity (in vitro).
PPME1
Protein phosphatase methylesterase 1 (PME-1) (EC 3.1.89) Q9Y570 FUNCTION: Demethylates proteins that have been reversibly carboxymethylated. Demethylates PPP2CB (in vitro) and PPP2CA. Binding to PPP2CA displaces the manganese ion and inactivates the enzyme.
PLEKHF1
Pleckstrin homology domain-containing family F member 1 (PH domain-containing family F member 1) (Lysosome-associated apoptosis-inducing protein containing PH and FYVE domains) (Apoptosis-inducing protein) (PH and FYVE domain-containing protein 1) (Phafin-1) (Zinc finger FYVE domain-containing protein 15) Q96S99 FUNCTION: May induce apoptosis through the lysosomal-mitochondrial pathway. Translocates to the lysosome initiating the permeabilization of lysosomal membrane (LMP) and resulting in the release of CTSD and CTSL to the cytoplasm. Triggers the caspase-independent apoptosis by altering mitochondrial membrane permeabilization (MMP) resulting in the release of PDCD8. Note=Translocates to lysosome during apoptosis.
PPP1R27
Protein phosphatase 1 regulatory subunit 27 (Dysferlin-interacting protein 1) (Toonin) Q86WC6 FUNCTION: Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.
ZMYND8
Protein kinase C-binding protein 1 (Cutaneous T-cell lymphoma-associated antigen se14-3) (CTCL-associated antigen se14-3) (Rack7) (Zinc finger MYND domain-containing protein 8) Q9ULU4 FUNCTION: May act as a transcriptional corepressor for KDM5D. Required for KDM5D-mediated down-regulation of diverse metastasis-associated genes; the function seems to involve the recognition of the dual histone signature H3K4me1-H3K14ac. Suppresses prostate cancer cell invasion.
MRPL1
39S ribosomal protein L1, mitochondrial (L1mt) (MRP-L1) (Mitochondrial large ribosomal subunit protein uL1m) Q9BYD6 SUBCELLULAR LOCATION: Mitochondrion .
MRPL16
39S ribosomal protein L16, mitochondrial (L16mt) (MRP-L16) (Mitochondrial large ribosomal subunit protein uL16m) Q9NX20 SUBCELLULAR LOCATION: Mitochondrion .
RBM44
RNA-binding protein 44 (RNA-binding motif protein 44) Q6ZP01 FUNCTION: Component of intercellular bridges during meiosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells. Not required for fertility (By similarity).
PTX4
Pentraxin-4 Q96A99 SUBCELLULAR LOCATION: Secreted .
SMARCAD1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 (EC 3.4.12) (ATP-dependent helicase 1) (hHEL1) Q9H4L7 FUNCTION: DNA helicase that possesses intrinsic ATP-dependent nucleosome-remodeling activity and is both required for DNA repair and heterochromatin organization. Promotes DNA end resection of double-strand breaks (DSBs) following DNA damage: probably acts by weakening histone DNA interactions in nucleosomes flanking DSBs. Required for the restoration of heterochromatin organization after replication. Acts at replication sites to facilitate the maintenance of heterochromatin by directing H3 and H4 histones deacetylation, H3 ‘Lys-9’ trimethylation (H3K9me3) and restoration of silencing. SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Colocalizes with PCNA at replication forks during S phase. Recruited to double-strand breaks (DSBs) sites of DNA damage.
TPP1
Tripeptidyl-peptidase 1 (TPP-1) (EC 3.14.9) (Cell growth-inhibiting gene 1 protein) (Lysosomal pepstatin-insensitive protease) (LPIC) (Tripeptidyl aminopeptidase) (Tripeptidyl-peptidase I) (TPP-I) O14773 FUNCTION: Lysosomal serine protease with tripeptidyl-peptidase I activity (, , ). May act as a non-specific lysosomal peptidase which generates tripeptides from the breakdown products produced by lysosomal proteinases (, , ). Requires substrates with an unsubstituted N-terminus .
SMR3B
Submaxillary gland androgen-regulated protein 3B (Proline-rich peptide P-B) (Proline-rich protein 3) [Cleaved into: Peptide P-A; Peptide D1A] P02814 SUBCELLULAR LOCATION: Secreted.
SGMS2
Phosphatidylcholine:ceramide cholinephosphotransferase 2 (EC 2.8.27) (Sphingomyelin synthase 2) Q8NHU3 FUNCTION: Sphingomyelin synthases synthesize the sphingolipid, sphingomyelin, through transfer of the phosphatidyl head group, phosphatidylcholine, on to the primary hydroxyl of ceramide . The reaction is bidirectional depending on the respective levels of the sphingolipid and ceramide. Plasma membrane SMS2 can also convert phosphatidylethanolamine (PE) to ceramide phosphatidylethanolamine (CPE). Major form in liver. Required for cell growth in certain cell types. Regulator of cell surface levels of ceramide, an important mediator of signal transduction and apoptosis. Regulation of sphingomyelin (SM) levels at the cell surface affects insulin sensitivity. Involved in the regulation of bone mineralization . Golgi apparatus membrane; Multi-pass membrane protein. Note=Predominantly plasma membrane, some in Golgi apparatus. Some localization in the perinuclear region where it colocalizes with a sialyltransferase.
SPDYE3
Speedy protein E3 A6NKU9
SMYD5
SET and MYND domain-containing protein 5 (EC 2.1.-) (Protein NN8-4AG) (Retinoic acid-induced protein 15) Q6GMV2
SNAPC3
snRNA-activating protein complex subunit 3 (SNAPc subunit 3) (Proximal sequence element-binding transcription factor subunit beta) (PSE-binding factor subunit beta) (PTF subunit beta) (Small nuclear RNA-activating complex polypeptide 3) (snRNA-activating protein complex 50 kDa subunit) (SNAPc 50 kDa subunit) Q92966 FUNCTION: Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box. SUBCELLULAR LOCATION: Nucleus.
SPEM1
Spermatid maturation protein 1 Q8N4L4 FUNCTION: Required for proper cytoplasm removal during spermatogenesis.
SPG7
Paraplegin (EC 3.24.-) (Cell matrix adhesion regulator) (Spastic paraplegia 7 protein) Q9UQ90 FUNCTION: ATP-dependent zinc metalloprotease. Plays a role in the formation and regulation of the mitochondrial permeability transition pore (mPTP) and its proteolytic activity is dispensable for this function .
SCCPDH
Saccharopine dehydrogenase-like oxidoreductase (EC 1.-.-) Q8NBX0
SNX20
Sorting nexin-20 (Selectin ligand-interactor cytoplasmic 1) (SLIC-1) Q7Z614 FUNCTION: May play a role in cellular vesicle trafficking. Has been proposed to function as a sorting protein that targets SELPLG into endosomes, but has no effect on SELPLG internalization from the cell surface, or on SELPLG-mediated cell-cell adhesion.
SNX22
Sorting nexin-22 Q96L94 FUNCTION: May be involved in several stages of intracellular trafficking (By similarity). Interacts with membranes containing phosphatidylinositol 3-phosphate (PtdIns(3P)).
SNX27
Sorting nexin-27 Q96L92 FUNCTION: Involved in the retrograde transport from endosome to plasma membrane, a trafficking pathway that promotes the recycling of internalized transmembrane proteins. Following internalization, endocytosed transmembrane proteins are delivered to early endosomes and recycled to the plasma membrane instead of being degraded in lysosomes. SNX27 specifically binds and directs sorting of a subset of transmembrane proteins containing a PDZ-binding motif at the C-terminus: following interaction with target transmembrane proteins, associates with the retromer complex, preventing entry into the lysosomal pathway, and promotes retromer-tubule based plasma membrane recycling. SNX27 also binds with the WASH complex. Interacts with membranes containing phosphatidylinositol-3-phosphate (PtdIns(3P)). May participate in establishment of natural killer cell polarity. Recruits CYTIP to early endosomes. SUBCELLULAR LOCATION: Early endosome membrane; Peripheral membrane protein. Cytoplasm, cytosol. Note=Localizes to immunological synapse in T-cells. In T-cells, recruited from the cytosol to sorting endosomes by phosphoinositide-3-kinase products.
TRDC
T cell receptor delta constant B7Z8K6 FUNCTION: Constant region of T cell receptor (TR) delta chain that participates in the antigen recognition . Gamma-delta TRs recognize a variety of self and foreign non-peptide antigens frequently expressed at the epithelial boundaries between the host and external environment, including endogenous lipids presented by MH-like protein CD1D and phosphoantigens presented by butyrophilin-like molecule BTN3A1. Upon antigen recognition induces rapid, innate-like immune responses involved in pathogen clearance and tissue repair (, ). Binding of gamma-delta TR complex to antigen triggers phosphorylation of immunoreceptor tyrosine-based activation motifs (ITAMs) in the CD3 chains by the LCK and FYN kinases, allowing the recruitment, phosphorylation, and activation of ZAP70 that facilitates phosphorylation of the scaffolding proteins LCP2 and LAT. This lead to the formation of a supramolecular signalosome that recruits the phospholipase PLCG1, resulting in calcium mobilization and ERK activation, ultimately leading to T cell expansion and differentiation into effector cells . Gamma-delta TRs are produced through somatic rearrangement of a limited repertoire of variable (V), diversity (D), and joining (J) genes. The potential diversity of gamma-delta TRs is conferred by the unique ability to rearrange (D) genes in tandem and to utilize all three reading frames. The combinatorial diversity is considerably increased by the sequence exonuclease trimming and random nucleotide (N) region additions which occur during the V-(D)-J rearrangements .
SPIN2A
Spindlin-2A (Protein DXF34) (Spindlin-like protein 2A) (SPIN-2) (SPIN-2A) Q99865 FUNCTION: May be involved in the regulation of cell cycle progression (By similarity). Exhibits H3K4me3-binding activity .
EARS2
Probable glutamate–tRNA ligase, mitochondrial (EC 6.1.17) (Glutamyl-tRNA synthetase) (GluRS) Q5JPH6 FUNCTION: Catalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu).
TREM2
Triggering receptor expressed on myeloid cells 2 (TREM-2) (Triggering receptor expressed on monocytes 2) Q9NZC2 FUNCTION: Forms a receptor signaling complex with TYROBP which mediates signaling and cell activation following ligand binding . Acts as a receptor for amyloid-beta protein 42, a cleavage product of the amyloid-beta precursor protein APP, and mediates its uptake and degradation by microglia (, ). Binding to amyloid-beta 42 mediates microglial activation, proliferation, migration, apoptosis and expression of pro-inflammatory cytokines, such as IL6R and CCL3, and the anti-inflammatory cytokine ARG1 (By similarity). Acts as a receptor for lipoprotein particles such as LDL, VLDL, and HDL and for apolipoproteins such as APOA1, APOA2, APOB, APOE, APOE2, APOE3, APOE4, and CLU and enhances their uptake in microglia . Binds phospholipids (preferably anionic lipids) such as phosphatidylserine, phosphatidylethanolamine, phosphatidylglycerol and sphingomyelin . Regulates microglial proliferation by acting as an upstream regulator of the Wnt/beta-catenin signaling cascade (By similarity). Required for microglial phagocytosis of apoptotic neurons . Also required for microglial activation and phagocytosis of myelin debris after neuronal injury and of neuronal synapses during synapse elimination in the developing brain (By similarity). Regulates microglial chemotaxis and process outgrowth, and also the microglial response to oxidative stress and lipopolysaccharide (By similarity). It suppresses PI3K and NF-kappa-B signaling in response to lipopolysaccharide; thus promoting phagocytosis, suppressing pro-inflammatory cytokine and nitric oxide production, inhibiting apoptosis and increasing expression of IL10 and TGFB (By similarity). During oxidative stress, it promotes anti-apoptotic NF-kappa-B signaling and ERK signaling (By similarity). Plays a role in microglial MTOR activation and metabolism (By similarity). Regulates age-related changes in microglial numbers . Triggers activation of the immune responses in macrophages and dendritic cells . Mediates cytokine-induced formation of multinucleated giant cells which are formed by the fusion of macrophages (By similarity). In dendritic cells, it mediates up-regulation of chemokine receptor CCR7 and dendritic cell maturation and survival . Involved in the positive regulation of osteoclast differentiation .
TOX2
TOX high mobility group box family member 2 (Granulosa cell HMG box protein 1) (GCX-1) Q96NM4 FUNCTION: Putative transcriptional activator involved in the hypothalamo-pituitary-gonadal system. SUBCELLULAR LOCATION: Nucleus .
TRHR
Thyrotropin-releasing hormone receptor (TRH-R) (Thyroliberin receptor) P34981 FUNCTION: Receptor for thyrotropin-releasing hormone. This receptor is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
TRHDE
Thyrotropin-releasing hormone-degrading ectoenzyme (TRH-DE) (TRH-degrading ectoenzyme) (EC 3.19.6) (Pyroglutamyl-peptidase II) (PAP-II) (TRH-specific aminopeptidase) (Thyroliberinase) Q9UKU6 FUNCTION: Specific inactivation of TRH after its release. SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
SELENOS
Selenoprotein S (SelS) (VCP-interacting membrane protein) Q9BQE4 FUNCTION: Involved in the degradation process of misfolded endoplasmic reticulum (ER) luminal proteins. Participates in the transfer of misfolded proteins from the ER to the cytosol, where they are destroyed by the proteasome in a ubiquitin-dependent manner. Probably acts by serving as a linker between DERL1, which mediates the retrotranslocation of misfolded proteins into the cytosol, and the ATPase complex VCP, which mediates the translocation and ubiquitination.
SDAD1
Protein SDA1 homolog (Nucleolar protein 130) (SDA1 domain-containing protein 1) (hSDA) Q9NVU7 FUNCTION: Required for 60S pre-ribosomal subunits export to the cytoplasm.
SPANXA1; SPANXA2
Sperm protein associated with the nucleus on the X chromosome A (Cancer/testis antigen 11.1) (CT11.1) (Nuclear-associated protein SPAN-Xa) (SPAN-X) (SPANX-A) (SPANX family member A) Q9NS26 SUBCELLULAR LOCATION: Cytoplasm . Note=Associated with nuclear craters.
TRIM29
Tripartite motif-containing protein 29 (Ataxia telangiectasia group D-associated protein) Q14134 FUNCTION: Plays a crucial role in the regulation of macrophage activation in response to viral or bacterial infections within the respiratory tract. Mechanistically, TRIM29 interacts with IKBKG/NEMO in the lysosome where it induces its ‘Lys-48’ ubiquitination and subsequent degradation. In turn, the expression of type I interferons and the production of proinflammatory cytokines are inhibited. Additionally, induces the ‘Lys-48’ ubiquitination of TMEM173/STING in a similar way, leading to its degradation. Note=Colocalizes with intermediate filaments.
SEMA4C
Semaphorin-4C Q9C0C4 FUNCTION: Cell surface receptor for PLXNB2 that plays an important role in cell-cell signaling. PLXNB2 binding promotes downstream activation of RHOA and phosphorylation of ERBB2 at ‘Tyr-1248’. Required for normal brain development, axon guidance and cell migration (By similarity). Probable signaling receptor which may play a role in myogenic differentiation through activation of the stress-activated MAPK cascade.
SEMA4G
Semaphorin-4G Q9NTN9 FUNCTION: Cell surface receptor for PLXNB2. May play a role in axon guidance (By similarity). SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
MAPKAP1
Target of rapamycin complex 2 subunit MAPKAP1 (TORC2 subunit MAPKAP1) (Mitogen-activated protein kinase 2-associated protein 1) (Stress-activated map kinase-interacting protein 1) (SAPK-interacting protein 1) (mSIN1) Q9BPZ7 FUNCTION: Subunit of mTORC2, which regulates cell growth and survival in response to hormonal signals. mTORC2 is activated by growth factors, but, in contrast to mTORC1, seems to be nutrient-insensitive. mTORC2 seems to function upstream of Rho GTPases to regulate the actin cytoskeleton, probably by activating one or more Rho-type guanine nucleotide exchange factors. mTORC2 promotes the serum-induced formation of stress-fibers or F-actin. mTORC2 plays a critical role in AKT1 ‘Ser-473’ phosphorylation, which may facilitate the phosphorylation of the activation loop of AKT1 on ‘Thr-308’ by PDK1 which is a prerequisite for full activation. mTORC2 regulates the phosphorylation of SGK1 at ‘Ser-422’. mTORC2 also modulates the phosphorylation of PRKCA on ‘Ser-657’. Within mTORC2, MAPKAP1 is required for complex formation and mTORC2 kinase activity. MAPKAP1 inhibits MAP3K2 by preventing its dimerization and autophosphorylation. Inhibits HRAS and KRAS signaling. Enhances osmotic stress-induced phosphorylation of ATF2 and ATF2-mediated transcription. Involved in ciliogenesis, regulates cilia length through its interaction with CCDC28B independently of mTORC2 complex. SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein. Cytoplasmic vesicle. Nucleus.
CD40
Tumor necrosis factor receptor superfamily member 5 (B-cell surface antigen CD40) (Bp50) (CD40L receptor) (CDw40) (CD antigen CD40) P25942 FUNCTION: Receptor for TNFSF5/CD40LG . Transduces TRAF6- and MAP3K8-mediated signals that activate ERK in macrophages and B cells, leading to induction of immunoglobulin secretion (By similarity). SUBCELLULAR LOCATION: [Isoform I]: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: [Isoform II]: Secreted.
SFXN3
Sideroflexin-3 Q9BWM7 FUNCTION: Mitochondrial serine transporter that mediates transport of serine into mitochondria, an important step of the one-carbon metabolism pathway . Mitochondrial serine is converted to glycine and formate, which then exits to the cytosol where it is used to generate the charged folates that serve as one-carbon donors .
SFTPA1
Pulmonary surfactant-associated protein A1 (PSP-A) (PSPA) (SP-A) (SP-A1) (35 kDa pulmonary surfactant-associated protein) (Alveolar proteinosis protein) (Collectin-4) Q8IWL2 FUNCTION: In presence of calcium ions, it binds to surfactant phospholipids and contributes to lower the surface tension at the air-liquid interface in the alveoli of the mammalian lung and is essential for normal respiration. Enhances the expression of MYO18A/SP-R210 on alveolar macrophages (By similarity). SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. Secreted, extracellular space, surface film.
SIRT3
NAD-dependent protein deacetylase sirtuin-3, mitochondrial (hSIRT3) (EC 2.1.286) (Regulatory protein SIR2 homolog 3) (SIR2-like protein 3) Q9NTG7 FUNCTION: NAD-dependent protein deacetylase (, , , , , , , , ). Activates or deactivates mitochondrial target proteins by deacetylating key lysine residues (, , , , , , , ). Known targets include ACSS1, IDH, GDH, SOD2, PDHA1, LCAD, SDHA and the ATP synthase subunit ATP5PO (, , , , ). Contributes to the regulation of the cellular energy metabolism . Important for regulating tissue-specific ATP levels . In response to metabolic stress, deacetylates transcription factor FOXO3 and recruits FOXO3 and mitochondrial RNA polymerase POLRMT to mtDNA to promote mtDNA transcription . Acts as a regulator of ceramide metabolism by mediating deacetylation of ceramide synthases CERS1, CERS2 and CERS6, thereby increasing their activity and promoting mitochondrial ceramide accumulation (By similarity).
SLC6A18
Inactive sodium-dependent neutral amino acid transporter B(0)AT3 (Sodium- and chloride-dependent transporter XTRP2) (Solute carrier family 6 member 18) (System B(0) neutral amino acid transporter AT3) Q96N87 FUNCTION: Does not show neutral amino acid transporter activity.
SFTA2
Surfactant-associated protein 2 (Surfactant-associated protein G) (SP-G) Q6UW10 FUNCTION: Putative surfactant protein.
SAA4
Serum amyloid A-4 protein (Constitutively expressed serum amyloid A protein) (C-SAA) P35542 FUNCTION: Major acute phase reactant. Apolipoprotein of the HDL complex. SUBCELLULAR LOCATION: Secreted.
SRR
Serine racemase (EC 5.1.18) (D-serine ammonia-lyase) (D-serine dehydratase) (EC 4.1.18) (L-serine ammonia-lyase) (L-serine dehydratase) (EC 4.1.17) Q9GZT4 FUNCTION: Catalyzes the synthesis of D-serine from L-serine. D-serine is a key coagonist with glutamate at NMDA receptors. Has dehydratase activity towards both L-serine and D-serine.
TAFA3
Chemokine-like protein TAFA-3 Q7Z5A8 FUNCTION: Plays a role in the regulation of microglia polarization.
NANS
Sialic acid synthase (N-acetylneuraminate synthase) (EC 2.1.56) (N-acetylneuraminate-9-phosphate synthase) (EC 2.1.57) (N-acetylneuraminic acid phosphate synthase) (N-acetylneuraminic acid synthase) Q9NR45 FUNCTION: Produces N-acetylneuraminic acid (Neu5Ac) and 2-keto-3-deoxy-D-glycero-D-galacto-nononic acid (KDN). Can also use N-acetylmannosamine 6-phosphate and mannose 6-phosphate as substrates to generate phosphorylated forms of Neu5Ac and KDN, respectively.
SVOP
Synaptic vesicle 2-related protein (SV2-related protein) Q8N4V2 SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane .
TAF9
Transcription initiation factor TFIID subunit 9 (RNA polymerase II TBP-associated factor subunit G) (STAF31/32) (Transcription initiation factor TFIID 31 kDa subunit) (TAFII-31) (TAFII31) (Transcription initiation factor TFIID 32 kDa subunit) (TAFII-32) (TAFII32) Q16594 FUNCTION: Essential for cell viability. TAF9 and TAF9B are involved in transcriptional activation as well as repression of distinct but overlapping sets of genes. May have a role in gene regulation associated with apoptosis. TAFs are components of the transcription factor IID (TFIID) complex, the TBP-free TAFII complex (TFTC), the PCAF histone acetylase complex and the STAGA transcription coactivator-HAT complex. TFIID or TFTC are essential for the regulation of RNA polymerase II-mediated transcription.
SMIM11B
Small integral membrane protein 11B Q8TCY0 SUBCELLULAR LOCATION: Membrane .
TOM1L2
TOM1-like protein 2 (Target of Myb-like protein 2) Q6ZVM7 FUNCTION: Probable role in protein transport. May regulate growth factor-induced mitogenic signaling.
SLC12A6
Solute carrier family 12 member 6 (Electroneutral potassium-chloride cotransporter 3) (K-Cl cotransporter 3) Q9UHW9 FUNCTION: Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells. SUBCELLULAR LOCATION: Basolateral cell membrane .
SEC14L3
SEC14-like protein 3 (Tocopherol-associated protein 2) Q9UDX4 FUNCTION: Probable hydrophobic ligand-binding protein; may play a role in the transport of hydrophobic ligands like tocopherol, squalene and phospholipids.
TPK1
Thiamin pyrophosphokinase 1 (hTPK1) (EC 2.6.2) (Placental protein 20) (PP20) (Thiamine pyrophosphokinase 1) Q9H3S4 FUNCTION: Catalyzes the phosphorylation of thiamine to thiamine pyrophosphate. Can also catalyze the phosphorylation of pyrithiamine to pyrithiamine pyrophosphate.
STAMBPL1
AMSH-like protease (AMSH-LP) (EC 3.19.-) (STAM-binding protein-like 1) Q96FJ0 FUNCTION: Zinc metalloprotease that specifically cleaves ‘Lys-63’-linked polyubiquitin chains. Does not cleave ‘Lys-48’-linked polyubiquitin chains.
STAP2
Signal-transducing adaptor protein 2 (STAP-2) (Breast tumor kinase substrate) (BRK substrate) Q9UGK3 FUNCTION: Substrate of protein kinase PTK6. May play a regulatory role in the acute-phase response in systemic inflammation and may modulate STAT3 activity.
SNCB
Beta-synuclein Q16143 FUNCTION: Non-amyloid component of senile plaques found in Alzheimer disease. Could act as a regulator of SNCA aggregation process. Protects neurons from staurosporine and 6-hydroxy dopamine (6OHDA)-stimulated caspase activation in a p53/TP53-dependent manner. Contributes to restore the SNCA anti-apoptotic function abolished by 6OHDA. Not found in the Lewy bodies associated with Parkinson disease. SUBCELLULAR LOCATION: Cytoplasm.
SCD5
Stearoyl-CoA desaturase 5 (EC 1.14.19.1) (Acyl-CoA-desaturase 4) (HSCD5) (Stearoyl-CoA 9-desaturase) (Stearoyl-CoA desaturase 2) Q86SK9 FUNCTION: Stearyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates. Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA (, ). Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids.
SCEL
Sciellin O95171 FUNCTION: May function in the assembly or regulation of proteins in the cornified envelope. The LIM domain may be involved in homotypic or heterotypic associations and may function to localize sciellin to the cornified envelope. SUBCELLULAR LOCATION: Cytoplasm. Membrane. Note=May become cross-linked to membrane proteins by transglutaminase.
SCYGR1
Small cysteine and glycine repeat-containing protein 1 (Keratin-associated protein 28-1) A0A286YEY9 FUNCTION: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.
SCFD2
Sec1 family domain-containing protein 2 (Syntaxin-binding protein 1-like 1) Q8WU76 FUNCTION: May be involved in protein transport.
TMEM232
Transmembrane protein 232 C9JQI7 SUBCELLULAR LOCATION: Membrane .
SCYGR7
Small cysteine and glycine repeat-containing protein 7 (Keratin-associated protein 28-7) A0A286YF01 FUNCTION: In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.
SMOC2
SPARC-related modular calcium-binding protein 2 (Secreted modular calcium-binding protein 2) (SMOC-2) (Smooth muscle-associated protein 2) (SMAP-2) Q9H3U7 FUNCTION: Promotes matrix assembly and cell adhesiveness (By similarity). Can stimulate endothelial cell proliferation, migration, as well as angiogenesis.
SHROOM2
Protein Shroom2 (Apical-like protein) (Protein APXL) Q13796 FUNCTION: May be involved in endothelial cell morphology changes during cell spreading. In the retinal pigment epithelium, may regulate the biogenesis of melanosomes and promote their association with the apical cell surface by inducing gamma-tubulin redistribution (By similarity).
TRAPPC12
Trafficking protein particle complex subunit 12 (Tetratricopeptide repeat protein 15) (TPR repeat protein 15) (TTC-15) (Trafficking of membranes and mitosis) Q8WVT3 FUNCTION: Component of the TRAPP complex, which is involved in endoplasmic reticulum to Golgi apparatus trafficking at a very early stage (, ). Also plays a role in chromosome congression, kinetochore assembly and stability and controls the recruitment of CENPE to the kinetochores .
SLX1A; SLX1B
Structure-specific endonuclease subunit SLX1 (EC 3.-.-) (GIY-YIG domain-containing protein 1) Q9BQ83 FUNCTION: Catalytic subunit of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5’-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products.
MRPS30
39S ribosomal protein S30, mitochondrial (MRP-S30) (S30mt) (Mitochondrial large ribosomal subunit protein mL65) (Mitochondrial large ribosomal subunit protein mS30) (Programmed cell death protein 9) Q9NP92 SUBCELLULAR LOCATION: Mitochondrion .
THSD8
Thrombospondin type-1 domain-containing protein 8 A0A1W2PP97
TFR2
Transferrin receptor protein 2 (TfR2) Q9UP52 FUNCTION: Mediates cellular uptake of transferrin-bound iron in a non-iron dependent manner. May be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein.; SUBCELLULAR LOCATION: [Isoform Beta]: Cytoplasm . Note=Lacks the transmembrane domain. Probably intracellular.
TGDS
dTDP-D-glucose 4,6-dehydratase (EC 4.1.46) O95455
TGFBRAP1
Transforming growth factor-beta receptor-associated protein 1 (TGF-beta receptor-associated protein 1) (TRAP-1) (TRAP1) Q8WUH2 FUNCTION: Plays a role in the TGF-beta/activin signaling pathway. It associates with inactive heteromeric TGF-beta and activin receptor complexes, mainly through the type II receptor, and is released upon activation of signaling. May recruit SMAD4 to the vicinity of the receptor complex and facilitate its interaction with receptor-regulated Smads, such as SMAD2. Note=Colocalizes with TGF-beta receptors in the absence of signaling.
RTF2
Replication termination factor 2 (RTF2) (Replication termination factor 2 domain-containing protein 1) Q9BY42 FUNCTION: Replication termination factor which is a component of the elongating replisome (Probable). Required for ATR pathway signaling upon DNA damage and has a positive activity during DNA replication. Might function to facilitate fork pausing at replication fork barriers like the rDNA. May be globally required to stimulate ATR signaling after the fork stalls or encounters a lesion (Probable). Interacts with nascent DNA .
TAS2R43
Taste receptor type 2 member 43 (T2R43) (Taste receptor type 2 member 52) (T2R52) P59537 FUNCTION: Gustducin-coupled receptor immplicated in the perception of bitter compounds in the oral cavity and the gastrointestinal tract. Signals through PLCB2 and the calcium-regulated cation channel TRPM5. Activated by the sulfonyl amide sweeteners saccharin and acesulfame K. In airway epithelial cells, binding of bitter compounds increases the intracellular calcium ion concentration and stimulates ciliary beat frequency. May act as chemosensory receptors in airway epithelial cells to detect and eliminate potential noxious agents from the airways (By similarity). Note=In airway epithelial cells, localizes to motile cilia.
TAS2R60
Taste receptor type 2 member 60 (T2R60) (Taste receptor type 2 member 56) (T2R56) P59551 FUNCTION: Receptor that may play a role in the perception of bitterness and is gustducin-linked. May play a role in sensing the chemical composition of the gastrointestinal content. The activity of this receptor may stimulate alpha gustducin, mediate PLC-beta-2 activation and lead to the gating of TRPM5 (By similarity). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
RTN3
Reticulon-3 (Homolog of ASY protein) (HAP) (Neuroendocrine-specific protein-like 2) (NSP-like protein 2) (Neuroendocrine-specific protein-like II) (NSP-like protein II) (NSPLII) O95197 FUNCTION: May be involved in membrane trafficking in the early secretory pathway. Inhibits BACE1 activity and amyloid precursor protein processing. May induce caspase-8 cascade and apoptosis. May favor BCL2 translocation to the mitochondria upon endoplasmic reticulum stress. In case of enteroviruses infection, RTN3 may be involved in the viral replication or pathogenesis. Induces the formation of endoplasmic reticulum tubules .
TGM7
Protein-glutamine gamma-glutamyltransferase Z (Transglutaminase Z) (TG(Z)) (TGZ) (TGase Z) (EC 2.2.13) (Transglutaminase-7) (TGase-7) Q96PF1 FUNCTION: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.
RTN2
Reticulon-2 (Neuroendocrine-specific protein-like 1) (NSP-like protein 1) (Neuroendocrine-specific protein-like I) (NSP-like protein I) (NSPLI) O75298 SUBCELLULAR LOCATION: Endoplasmic reticulum membrane .
TIMM23B
Putative mitochondrial import inner membrane translocase subunit Tim23B Q5SRD1 FUNCTION: May participate in the translocation of transit peptide-containing proteins across the mitochondrial inner membrane. the PAM complex (By similarity).
RPS29
40S ribosomal protein S29 (Small ribosomal subunit protein uS14) P62273 SUBCELLULAR LOCATION: Cytoplasm, cytosol .
TBL1XR1
F-box-like/WD repeat-containing protein TBL1XR1 (Nuclear receptor corepressor/HDAC3 complex subunit TBLR1) (TBL1-related protein 1) (Transducin beta-like 1X-related protein 1) Q9BZK7 FUNCTION: F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units. Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of the N-Cor corepressor complex that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of N-Cor complex, thereby allowing cofactor exchange, and transcription activation.
THRA
Thyroid hormone receptor alpha (Nuclear receptor subfamily 1 group A member 1) (V-erbA-related protein 7) (EAR-7) (c-erbA-1) (c-erbA-alpha) P10827 FUNCTION: [Isoform Alpha-1]: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine.
THRB
Thyroid hormone receptor beta (Nuclear receptor subfamily 1 group A member 2) (c-erbA-2) (c-erbA-beta) P10828 FUNCTION: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. SUBCELLULAR LOCATION: Nucleus.
TBX22
T-box transcription factor TBX22 (T-box protein 22) Q9Y458 FUNCTION: Probable transcriptional regulator involved in developmental processes. This is major determinant crucial to palatogenesis. SUBCELLULAR LOCATION: Nucleus .
