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RGPD5 | RANBP2-like and GRIP domain containing 5 (1765 aa) | |||
MRI1 | methylthioribose-1-phosphate isomerase homolog (S. cerevisiae); Catalyzes the interconversion of methylthioribose-1- phosphate (MTR-1-P) into methylthioribulose-1-phosphate (MTRu-1- P). Independently from catalytic activity, promotes cell invasion in response to constitutive RhoA activation by promoting FAK tyrosine phosphorylation and stress fiber turnover (369 aa) | |||
NAA38 | N(alpha)-acetyltransferase 38, NatC auxiliary subunit; Binds specifically to the 3’-terminal U-tract of U6 snRNA and is probably a component of the spliceosome (96 aa) | |||
KCTD3 | potassium channel tetramerisation domain containing 3 (815 aa) | |||
PIH1D1 | PIH1 domain containing 1 (290 aa) | |||
USP13 | ubiquitin specific peptidase 13 (isopeptidase T-3); Deubiquitinase that mediates deubiquitination of target proteins such as BECN1, MITF, SKP2 and USP10 and is involved in various processes such as autophagy and endoplasmic reticulum- associated degradation (ERAD). Component of a regulatory loop that controls autophagy and p53/TP53 levels- mediates deubiquitination of BECN1, a key regulator of autophagy, leading to stabilize the PIK3C3/VPS34-containing complexes. Also deubiquitinates USP10, an essential regulator of p53/TP53 stability. In turn, PIK3C3/VPS34- containing complexes regula [...] (863 aa) | |||
CAD | carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase; This protein is a "fusion" protein encoding four enzymatic activities of the pyrimidine pathway (GATase, CPSase, ATCase and DHOase) (2225 aa) | |||
ANK1 | ankyrin 1, erythrocytic (1897 aa) | |||
PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha; Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. Has a role in several intracellular trafficking events. Functions in insulin signaling and secretion. Required for translocation of the glucose transporter SLC2A4/GLUT4 to the plasma membrane and glucose uptake in response to insulin- mediated RHOQ activation. Regulates insulin secretion through two different mechanisms- involved in glucose-induced insulin secretion downs [...] (1686 aa) | |||
PIK3C2G | phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma; Generates phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) that act as second messengers. May play a role in SDF1A-stimulated chemotaxis (By similarity) (1445 aa) | |||
ANK3 | ankyrin 3, node of Ranvier (ankyrin G); In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments (4377 aa) | |||
COPS6 | COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis); Component of the COP9 signalosome complex (CSN), a complex involved in various cellular and developmental processes. The CSN complex is an essential regulator of the ubiquitin (Ubl) conjugation pathway by mediating the deneddylation of the cullin subunits of SCF-type E3 ligase complexes, leading to decrease the Ubl ligase activity of SCF-type complexes such as SCF, CSA or DDB2. The complex is also involved in phosphorylation of p53/TP53, c-jun/JUN, IkappaBalpha/NFKBIA, ITPK1 and IRF8, possibly via its association with [...] (327 aa) | |||
RGPD8 | RANBP2-like and GRIP domain containing 8 (1765 aa) | |||
CARM1 | coactivator-associated arginine methyltransferase 1; Methylates (mono- and asymmetric dimethylation) the guanidino nitrogens of arginyl residues in several proteins involved in DNA packaging, transcription regulation, pre-mRNA splicing, and mRNA stability. Recruited to promoters upon gene activation together with histone acetyltransferases from EP300/P300 and p160 families, methylates histone H3 at ’Arg-17’ (H3R17me), forming mainly asymmetric dimethylarginine (H3R17me2a), leading to activate transcription via chromatin remodeling. During nuclear hormone receptor activation and TCF7L2/ [...] (608 aa) | |||
UBC | ubiquitin C (685 aa) | |||
ANK2 | ankyrin 2, neuronal; In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions (By similarity). Attaches integral membrane proteins to cytoskeletal elements. Also binds to cytoskeletal proteins. Required for coordinate assembly of Na/Ca exchanger, Na/K ATPase and InsP3 receptor at sarcoplasmic reticulum sites in cardiomyocytes. Required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in the inner se [...] (3957 aa) | |||
PIK3C2B | phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta; Phosphorylates PtdIns and PtdIns4P with a preference for PtdIns. Does not phosphorylate PtdIns(4,5)P2. May be involved in EGF and PDGF signaling cascades (1634 aa) | |||
MMS19 | MMS19 nucleotide excision repair homolog (S. cerevisiae) (1030 aa) | |||
LRRC40 | leucine rich repeat containing 40 (602 aa) | |||
STXBP1 | syntaxin binding protein 1; May participate in the regulation of synaptic vesicle docking and fusion, possibly through interaction with GTP-binding proteins. Essential for neurotransmission and binds syntaxin, a component of the synaptic vesicle fusion machinery probably in a 1-1 ratio. Can interact with syntaxins 1, 2, and 3 but not syntaxin 4. May play a role in determining the specificity of intracellular fusion reactions (603 aa) | |||
ATAD3A | ATPase family, AAA domain containing 3A; Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important in mitochondrial protein synthesis. May also participate in mitochondrial DNA replication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhanced channeling of cholesterol for hormone- dependent steroidogenesis (634 aa) | |||
ATAD3C | ATPase family, AAA domain containing 3C (411 aa) | |||
SH3KBP1 | SH3-domain kinase binding protein 1; Adapter protein involved in regulating diverse signal transduction pathways. Involved in the regulation of endocytosis and lysosomal degradation of ligand-induced receptor tyrosine kinases, including EGFR and MET/hepatocyte growth factor receptor, through a association with CBL and endophilins. The association with CBL, and thus the receptor internalization, may inhibited by an interaction with PDCD6IP and/or SPRY2. Involved in regulation of ligand-dependent endocytosis of the IgE receptor. Attenuates phosphatidylinositol 3-kinase activity by intera [...] (665 aa) | |||
RGPD2 | RANBP2-like and GRIP domain containing 2 (1756 aa) | |||
RGPD4 | RANBP2-like and GRIP domain containing 4 (1758 aa) | |||
CPS1 | carbamoyl-phosphate synthase 1, mitochondrial; Involved in the urea cycle of ureotelic animals where the enzyme plays an important role in removing excess ammonia from the cell (1506 aa) |