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ADAT2 | adenosine deaminase, tRNA-specific 2; Probably participates in deamination of adenosine-34 to inosine in many tRNAs (By similarity) (191 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) | |||
CDADC1 | cytidine and dCMP deaminase domain containing 1; May play an important role in testicular development and spermatogenesis (514 aa) | |||
KRAS | v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog; Ras proteins bind GDP/GTP and possess intrinsic GTPase activity (189 aa) | |||
CMPK2 | cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial; May participate in dUTP and dCTP synthesis in mitochondria. Is able to phosphorylate dUMP, dCMP, CMP, UMP and monophosphates of the pyrimidine nucleoside analogs ddC, dFdC, araC, BVDU and FdUrd with ATP as phosphate donor. Efficacy is highest for dUMP followed by dCMP; CMP and UMP are poor substrates. May be involved in mtDNA depletion caused by long term treatment with ddC or other pyrimidine analogs (449 aa) | |||
CCT7 | chaperonin containing TCP1, subunit 7 (eta); Molecular chaperone; assists the folding of proteins upon ATP hydrolysis. Known to play a role, in vitro, in the folding of actin and tubulin (By similarity) (543 aa) | |||
SAMHD1 | SAM domain and HD domain 1; Putative nuclease involved in innate immune response by acting as a negative regulator of the cell-intrinsic antiviral response. May play a role in mediating proinflammatory responses to TNF-alpha signaling (626 aa) | |||
PIKFYVE | phosphoinositide kinase, FYVE finger containing; The PI(3,5)P2 regulatory complex regulates both the synthesis and turnover of phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Catalyzes the phosphorylation of phosphatidylinositol 3-phosphate on the fifth hydroxyl of the myo- inositol ring, to form phosphatidylinositol 3,5-bisphosphate. Required for endocytic-vacuolar pathway and nuclear migration. Plays a role in the biogenesis of endosome carrier vesicles (ECV)/ multivesicular bodies (MVB) transport intermediates from early endosomes (2098 aa) | |||
MAGEA4 | melanoma antigen family A, 4; Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression (317 aa) | |||
LRRK2 | leucine-rich repeat kinase 2; May play a role in the phosphorylation of proteins central to Parkinson disease. Phosphorylates PRDX3. May also have GTPase activity. Positively regulates autophagy through a calcium- dependent activation of the CaMKK/AMPK signaling pathway. The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes (2527 aa) | |||
DTYMK | deoxythymidylate kinase (thymidylate kinase); Catalyzes the conversion of dTMP to dTDP (212 aa) | |||
RBM4 | RNA binding motif protein 4; RNA-binding factor involved in multiple aspects of cellular processes like alternative splicing of pre-mRNA and translation regulation. Modulates alternative 5’-splice site and exon selection. Acts as a muscle cell differentiation-promoting factor. Activates exon skipping of the PTB pre-mRNA during muscle cell differentiation. Antagonizes the activity of the splicing factor PTBP1 to modulate muscle cell-specific exon selection of alpha tropomyosin. Binds to intronic pyrimidine-rich sequence of the TPM1 and MAPT pre-mRNAs. Required for the translational acti [...] (364 aa) | |||
TYMS | thymidylate synthetase; Contributes to the de novo mitochondrial thymidylate biosynthesis pathway (313 aa) | |||
TCP1 | t-complex 1; 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. Known to play a role, in vitro, in the folding of actin and tubulin (556 aa) | |||
HMGCS1 | 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble); This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase (520 aa) | |||
ADAT3 | adenosine deaminase, tRNA-specific 3 (351 aa) | |||
HSPD1 | heat shock 60kDa protein 1 (chaperonin); Implicated in mitochondrial protein import and macromolecular assembly. May facilitate the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix (573 aa) | |||
DCTD | dCMP deaminase; Supplies the nucleotide substrate for thymidylate synthetase (189 aa) | |||
MRPL9 | mitochondrial ribosomal protein L9 (267 aa) | |||
HMGCS2 | 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial); This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase (508 aa) | |||
DKK1 | dickkopf 1 homolog (Xenopus laevis); Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6. DKKs play an important role in vertebrate development, where they locally inhibit Wnt regulated processes such as antero- posterior axial patterning, limb development, somitogenesis and eye formation. In the adult, Dkks are implicated in bone formation and bone disease, cancer and Alzheimer disease (266 aa) | |||
CDA | cytidine deaminase; This enzyme scavenge exogenous and endogenous cytidine and 2’-deoxycytidine for UMP synthesis (146 aa) | |||
BBS10 | Bardet-Biedl syndrome 10; 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. Involved in adipogenic differentiation (723 aa) | |||
FCHSD2 | FCH and double SH3 domains 2 (740 aa) | |||
FCHSD1 | FCH and double SH3 domains 1 (690 aa) | |||
TK2 | thymidine kinase 2, mitochondrial; Deoxyribonucleoside kinase that phosphorylates thymidine, deoxycytidine, and deoxyuridine. Also phosphorylates anti-viral and anti-cancer nucleoside analogs (265 aa) |