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USP10 | ubiquitin specific peptidase 10; Hydrolase that can remove conjugated ubiquitin from target proteins such as p53/TP53, BECN1, SNX3 and CFTR. Acts as an essential regulator of p53/TP53 stability- in unstressed cells, specifically deubiquitinates p53/TP53 in the cytoplasm, leading to counteract MDM2 action and stabilize p53/TP53. Following DNA damage, translocates to the nucleus and deubiquitinates p53/TP53, leading to regulate the p53/TP53-dependent DNA damage response. Component of a regulatory loop that controls autophagy and p53/TP53 levels- mediates deubiquitination of BECN1, a key [...] (798 aa) | |||
SNX3 | sorting nexin 3 (162 aa) | |||
SBDS | Shwachman-Bodian-Diamond syndrome; Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFTUD1, triggers the GTP- dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell prol [...] (250 aa) | |||
SUGP1 | SURP and G patch domain containing 1; Plays a role in pre-mRNA splicing (645 aa) | |||
NDUFA2 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (99 aa) | |||
MRPL53 | mitochondrial ribosomal protein L53 (112 aa) | |||
PSMB1 | proteasome (prosome, macropain) subunit, beta type, 1; The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity (By similarity) (241 aa) | |||
PPM1G | protein phosphatase, Mg2+/Mn2+ dependent, 1G (546 aa) | |||
RBMS1 | RNA binding motif, single stranded interacting protein 1; Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene. Binds specifically to the DNA sequence motif 5’-[AT]CT[AT][AT]T-3’. Probably has a role in DNA replication (406 aa) | |||
VPS35 | vacuolar protein sorting 35 homolog (S. cerevisiae) (796 aa) | |||
ARL6IP1 | ADP-ribosylation factor-like 6 interacting protein 1; May be involved in protein transport, membrane trafficking, or cell signaling during hematopoietic maturation (203 aa) | |||
SEC23A | Sec23 homolog A (S. cerevisiae); Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex (765 aa) | |||
SNX32 | sorting nexin 32; May be involved in several stages of intracellular trafficking (By similarity) (403 aa) | |||
ZC3H11A | zinc finger CCCH-type containing 11A (810 aa) | |||
UBC | ubiquitin C (685 aa) | |||
WLS | wntless homolog (Drosophila); Regulates Wnt proteins sorting and secretion in a feedback regulatory mechanism. This reciprocal interaction plays a key role in the regulation of expression, subcellular location, binding and organelle-specific association of Wnt proteins. Plays also an important role in establishment of the anterior-posterior body axis formation during development (By similarity) (543 aa) | |||
IGBP1 | immunoglobulin (CD79A) binding protein 1; Associated to surface IgM-receptor; may be involved in signal transduction. Involved in regulation of the catalytic activity of PP2A, PP4 and PP6 phosphatases catalytic subunits by protecting them from degradative polyubiquitination until they associate with regulatory subunits (339 aa) | |||
SCNN1A | sodium channel, non-voltage-gated 1 alpha subunit; Sodium permeable non-voltage-sensitive ion channel inhibited by the diuretic amiloride. Mediates the electrodiffusion of the luminal sodium (and water, which follows osmotically) through the apical membrane of epithelial cells. Controls the reabsorption of sodium in kidney, colon, lung and sweat glands. Also plays a role in taste perception (728 aa) | |||
SNX6 | sorting nexin 6; May be involved in several stages of intracellular trafficking. Promotes lysosomal degradation of CDKN1B (By similarity). Plays a role in retrograde protein transport from endosomes to the trans-Golgi network. May function as link between transport vesicles and dynactin. Negatively regulates retrograde transport of BACE1 from the cell surface to the trans-Golgi network. May contribute to transcription regulation (418 aa) | |||
STX7 | syntaxin 7; May be involved in protein trafficking from the plasma membrane to the early endosome (EE) as well as in homotypic fusion of endocytic organelles. Mediates the endocytic trafficking from early endosomes to late endosomes and lysosomes (261 aa) | |||
AHCYL1 | adenosylhomocysteinase-like 1 (530 aa) | |||
VPS29 | vacuolar protein sorting 29 homolog (S. cerevisiae); Essential component of the retromer complex, a complex required to retrieve lysosomal enzyme receptors (IGF2R and M6PR) from endosomes to the trans-Golgi network. Also required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA). Has low protein phosphatase activity towards a serine-phosphorylated peptide derived from IGF2R (in vitro) (186 aa) | |||
SRPRB | signal recognition particle receptor, B subunit; Component of the SRP (signal recognition particle) receptor. Ensures, in conjunction with the signal recognition particle, the correct targeting of the nascent secretory proteins to the endoplasmic reticulum membrane system. Has GTPase activity. May mediate the membrane association of SRPR (By similarity) (271 aa) | |||
PPIA | peptidylprolyl isomerase A (cyclophilin A); PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides (By similarity) (165 aa) | |||
NDUFA7 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa; Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (113 aa) |