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| RPAP3 | RNA polymerase II-associated protein 3; Forms an interface between the RNA polymerase II enzyme and chaperone/scaffolding protein, suggesting that it is required to connect RNA polymerase II to regulators of protein complex formation; Belongs to the RPAP3 family (665 aa) | |||
| APPBP2 | Amyloid protein-binding protein 2; May play a role in intracellular protein transport. May be involved in the translocation of APP along microtubules toward the cell surface (585 aa) | |||
| TGFBR3 | Transforming growth factor beta receptor type 3; Binds to TGF-beta. Could be involved in capturing and retaining TGF-beta for presentation to the signaling receptors; Proteoglycans (851 aa) | |||
| SGTA | Small glutamine-rich tetratricopeptide repeat-containing protein alpha; Co-chaperone that binds misfolded and hydrophobic patches-containing client proteins in the cytosol. Mediates their targeting to the endoplasmic reticulum but also regulates their sorting to the proteasome when targeting fails. Functions in tail-anchored/type II transmembrane proteins membrane insertion constituting with ASNA1 and the BAG6 complex a targeting module. Probably functions upstream of the BAG6 complex and ASNA1, binding more rapidly the transmembrane domain of newly synthesized proteins. It is also inv [...] (313 aa) | |||
| BET1 | BET1 homolog; Required for vesicular transport from the ER to the Golgi complex. Functions as a SNARE involved in the docking process of ER-derived vesicles with the cis-Golgi membrane (By similarity); SNAREs (118 aa) | |||
| TTC31 | Tetratricopeptide repeat domain containing (519 aa) | |||
| KDM6B | Lysine-specific demethylase 6B; Histone demethylase that specifically demethylates ’Lys- 27’ of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated H3 ’Lys-27’. Plays a central role in regulation of posterior development, by regulating HOX gene expression. Involved in inflammatory response by participating in macrophage differentiation in case of inflammation by regulating gene expression and macrophage differentiation. Plays a demethylase-independent role in chromatin remodeling to regulate T-box family member-dependent gene expressi [...] (1682 aa) | |||
| KLC4 | Kinesin light chain 4; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity); Tetratricopeptide repeat domain containing (637 aa) | |||
| TTC19 | Tetratricopeptide repeat protein 19, mitochondrial; Required for the preservation of the structural and functional integrity of mitochondrial respiratory complex III by allowing the physiological turnover of the Rieske protein UQCRFS1. Involved in the clearance of UQCRFS1 N-terminal fragments, which are produced upon incorporation of UQCRFS1 into the complex III and whose presence is detrimental for its catalytic activity; Tetratricopeptide repeat domain containing (380 aa) | |||
| CELSR1 | Cadherin EGF LAG seven-pass G-type receptor 1; Receptor that may have an important role in cell/cell signaling during nervous system formation; Adhesion G protein-coupled receptors, subfamily C (3014 aa) | |||
| TMTC3 | Transmembrane and TPR repeat-containing protein 3; Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response; Tetratricopeptide repeat domain containing (914 aa) | |||
| BBS4 | Bardet-Biedl syndrome 4 protein; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl ex [...] (519 aa) | |||
| LRIG1 | Leucine-rich repeats and immunoglobulin-like domains protein 1; Acts as a feedback negative regulator of signaling by receptor tyrosine kinases, through a mechanism that involves enhancement of receptor ubiquitination and accelerated intracellular degradation; I-set domain containing (1093 aa) | |||
| TPST1 | Protein-tyrosine sulfotransferase 1; Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3’-phosphoadenylyl sulfate (PAPS) as cosubstrate; Belongs to the protein sulfotransferase family (370 aa) | |||
| CANT1 | Soluble calcium-activated nucleotidase 1; Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP. Involved in proteoglycan synthesis (401 aa) | |||
| CLRN1 | Clarin-1; May have a role in the excitatory ribbon synapse junctions between hair cells and cochlear ganglion cells and presumably also in analogous synapses within the retina; Belongs to the clarin family (245 aa) | |||
| TTC33 | Tetratricopeptide repeat domain containing (262 aa) | |||
| OGT | UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit; Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in cytoplasmic and nuclear proteins resulting in their modification with a beta- linked N-acetylglucosamine (O-GlcNAc). Glycosylates a large and diverse number of proteins including histone H2B, AKT1, EZH2, PFKL, KMT2E/MLL5, MAPT/TAU and HCFC1. Can regulate their cellular processes via cross-talk between glycosylation and phosphorylation or by affecting proteolytic processing. Involved in insulin resist [...] (1046 aa) | |||
| FKBPL | FK506-binding protein-like; May be involved in response to X-ray. Regulates p21 protein stability by binding to Hsp90 and p21; FKBP prolyl isomerases (349 aa) | |||
| ENTPD6 | Ectonucleoside triphosphate diphosphohydrolase 6; Might support glycosylation reactions in the Golgi apparatus and, when released from cells, might catalyze the hydrolysis of extracellular nucleotides. Hydrolyzes preferentially nucleoside 5’-diphosphates, nucleoside 5’-triphosphates are hydrolyzed only to a minor extent, there is no hydrolysis of nucleoside 5’-monophosphates. The order of activity with different substrates is GDP > IDP >> UDP = CDP >> ADP (By similarity); Belongs to the GDA1/CD39 NTPase family (484 aa) | |||
| KDM6A | Lysine-specific demethylase 6A; Histone demethylase that specifically demethylates ’Lys- 27’ of histone H3, thereby playing a central role in histone code. Demethylates trimethylated and dimethylated but not monomethylated H3 ’Lys-27’. Plays a central role in regulation of posterior development, by regulating HOX gene expression. Demethylation of ’Lys-27’ of histone H3 is concomitant with methylation of ’Lys-4’ of histone H3, and regulates the recruitment of the PRC1 complex and monoubiquitination of histone H2A. Plays a demethylase-independent role in chromatin remodeling to regulate [...] (1401 aa) | |||
| SGTB | Small glutamine-rich tetratricopeptide repeat-containing protein beta; Co-chaperone that binds directly to HSC70 and HSP70 and regulates their ATPase activity; Tetratricopeptide repeat domain containing (304 aa) | |||
| PLXNA1 | Plexin-A1; Coreceptor for SEMA3A, SEMA3C, SEMA3F and SEMA6D. Necessary for signaling by class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex composed of a neuropilin and a plexin. The plexin modulates the affinity of the complex for specific semaphorins, and its cytoplasmic domain is required for the activation of down- stream signaling events in the cytoplasm (By similarity) (1896 aa) | |||
| ITGA6 | Integrin alpha-6; Integrin alpha-6/beta-1 is a receptor for laminin on platelets. Integrin alpha-6/beta-4 is a receptor for laminin in epithelial cells and it plays a critical structural role in the hemidesmosome (By similarity). ITGA6-ITGB4 binds to NRG1 (via EGF domain) and this binding is essential for NRG1-ERBB signaling. ITGA6-ITGB4 binds to IGF1 and this binding is essential for IGF1 signaling (1091 aa) | |||
| KLC2 | Kinesin light chain 2; Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. The light chain may function in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (By similarity) (622 aa) | |||
| TTC25 | Tetratricopeptide repeat protein 25; Required for the docking of the outer dynein arm to cilia, hence plays an essential role in cilia motility; Tetratricopeptide repeat domain containing (672 aa) | |||
