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.