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MBD3 | methyl-CpG binding domain protein 3; Does not bind DNA by itself. Recruits histone deacetylases and DNA methyltransferases. Acts as transcriptional repressor and plays a role in gene silencing (291 aa) | |||
ATP6V1B1 | ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1; Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells (513 aa) | |||
MKKS | McKusick-Kaufman syndrome; Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. May play a role in protein processing in limb, cardiac and reproductive system development. May play a role in cytokinesis (570 aa) | |||
RABGAP1L | RAB GTPase activating protein 1-like (815 aa) | |||
RAB2A | RAB2A, member RAS oncogene family; Required for protein transport from the endoplasmic reticulum to the Golgi complex (212 aa) | |||
CPVL | carboxypeptidase, vitellogenic-like; May be involved in the digestion of phagocytosed particles in the lysosome, participation in an inflammatory protease cascade, and trimming of peptides for antigen presentation (476 aa) | |||
SGSM2 | small G protein signaling modulator 2 (1051 aa) | |||
ATP6V1B2 | ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2; Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells (511 aa) | |||
LCMT2 | leucine carboxyl methyltransferase 2; 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 (686 aa) | |||
HSD17B6 | hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse); NAD-dependent oxidoreductase with broad substrate specificity that shows both oxidative and reductive activity (in vitro). Has 17-beta-hydroxysteroid dehydrogenase activity towards various steroids (in vitro). Converts 5-alpha-androstan-3- alpha,17-beta-diol to androsterone and estradiol to estrone (in vitro). Has 3-alpha-hydroxysteroid dehydrogenase activity towards androsterone (in vitro). Has retinol dehydrogenase activity towards all-trans-retinol (in vitro). Can convert androsterone to epi-androsterone. Androsterone is firs [...] (317 aa) | |||
ING5 | inhibitor of growth family, member 5; Component of the HBO1 complex which has a histone H4- specific acetyltransferase activity, a reduced activity toward histone H3 and is responsible for the bulk of histone H4 acetylation in vivo. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. Through chromatin acetylation it may regulate DNA replication and may function as a transcriptional coactivator (240 aa) | |||
CCDC28A | coiled-coil domain containing 28A (274 aa) | |||
PICK1 | protein interacting with PRKCA 1; Probable adapter protein that bind to and organize the subcellular localization of a variety of membrane proteins containing some PDZ recognition sequence. Involved in the clustering of various receptors, possibly by acting at the receptor internalization level. Plays a role in synaptic plasticity by regulating the trafficking and internalization of AMPA receptors. May be regulated upon PRKCA activation. May regulate heteromeric ASIC1/ASIC3 channel (415 aa) | |||
BDH1 | 3-hydroxybutyrate dehydrogenase, type 1 (343 aa) | |||
CNTF | ciliary neurotrophic factor; CNTF is a survival factor for various neuronal cell types. Seems to prevent the degeneration of motor axons after axotomy (200 aa) | |||
LMOD1 | leiomodin 1 (smooth muscle) (600 aa) | |||
ICA1 | islet cell autoantigen 1, 69kDa; May play a role in neurotransmitter secretion (By similarity) (483 aa) | |||
STK16 | serine/threonine kinase 16; 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 (305 aa) | |||
MLST8 | MTOR associated protein, LST8 homolog (S. cerevisiae) (326 aa) | |||
RAB2B | RAB2B, member RAS oncogene family; Required for protein transport from the endoplasmic reticulum to the Golgi complex (Potential) (216 aa) | |||
TBC1D3B | TBC1 domain family, member 3B; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity) (549 aa) | |||
LCMT1 | leucine carboxyl methyltransferase 1; Methylates the carboxyl group of the C-terminal leucine residue of protein phosphatase 2A catalytic subunits to form alpha-leucine ester residues (334 aa) | |||
SGSM1 | small G protein signaling modulator 1 (1148 aa) | |||
EXOC5 | exocyst complex component 5; Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane (708 aa) | |||
TBC1D3H | TBC1 domain family, member 3H; Acts as a GTPase activating protein for RAB5. Does not act on RAB4 or RAB11 (By similarity) (549 aa) | |||
TBC1D30 | TBC1 domain family, member 30; GTPase-activating protein (GAP) with broad specificity. Acts as a GAP for RAB3A. Also exhibits significant GAP activity toward RAB22A, RAB27A, and RAB35 in vitro (761 aa) |