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| ARSA | Arylsulfatase A; Hydrolyzes cerebroside sulfate; Belongs to the sulfatase family (509 aa) | |||
| CSNK1G2 | Casein kinase I isoform gamma-2; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates COL4A3BP/CERT, MTA1 and SMAD3. Involved in brain development and vesicular trafficking and neurotransmitter releasing from small synaptic vesicles. Regulates fast synaptic transmission mediated by glutamate. SMAD3 phosphorylation promotes its ligand-dependent ubiquitination and subsequent proteasome degra [...] (415 aa) | |||
| GNS | N-acetylglucosamine-6-sulfatase; Glucosamine-6-sulfatase; Belongs to the sulfatase family (552 aa) | |||
| NUPL2 | Nucleoporin-like protein 2; Required for the export of mRNAs containing poly(A) tails from the nucleus into the cytoplasm. In case of infection by HIV-1, it may participate in the docking of viral Vpr at the nuclear envelope (423 aa) | |||
| SUMF1 | Sulfatase-modifying factor 1; Using molecular oxygen and an unidentified reducing agent, oxidizes a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also called C(alpha)-formylglycine. Known substrates include GALNS, ARSA, STS and ARSE; Belongs to the sulfatase-modifying factor family (374 aa) | |||
| EIF2B5 | Translation initiation factor eIF-2B subunit epsilon; Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP; Belongs to the eIF-2B gamma/epsilon subunits family (721 aa) | |||
| PPIL3 | Peptidyl-prolyl cis-trans isomerase; PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides; Cyclophilin peptidylprolyl isomerases (165 aa) | |||
| WDR82 | WD repeat-containing protein 82; Regulatory component of the SET1 complex implicated in the tethering of this complex to transcriptional start sites of active genes. Facilitates histone H3 ’Lys-4’ methylation via recruitment of the SETD1A or SETD1B to the ’Ser-5’ phosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A). Component of PTW/PP1 phosphatase complex, which plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase; WD repeat domain containing (313 aa) | |||
| CSNK1G1 | Casein kinase I isoform gamma-1; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity). Phosphorylates CLSPN (422 aa) | |||
| APLF | Aprataxin and PNK-like factor; Nuclease involved in single-strand and double-strand DNA break repair. Recruited to sites of DNA damage through interaction with poly(ADP-ribose), a polymeric post-translational modification synthesized transiently at sites of chromosomal damage to accelerate DNA strand break repair reactions. Displays apurinic- apyrimidinic (AP) endonuclease and 3’-5’ exonuclease activities in vitro. Also able to introduce nicks at hydroxyuracil and other types of pyrimidine base damage; Zinc fingers (511 aa) | |||
| GMPPB | Mannose-1-phosphate guanyltransferase beta; Catalyzes the formation of GDP-mannose, an essential precursor of glycan moieties of glycoproteins and glycolipids; Belongs to the transferase hexapeptide repeat family (387 aa) | |||
| IDS | Iduronate 2-sulfatase; Required for the lysosomal degradation of heparan sulfate and dermatan sulfate; Sulfatases (550 aa) | |||
| SUMF2 | Sulfatase-modifying factor 2; Lacks formyl-glycine generating activity and is unable to convert newly synthesized inactive sulfatases to their active form. Inhibits the activation of sulfatases by SUMF1 (358 aa) | |||
| GMPPA | Mannose-1-phosphate guanyltransferase alpha; May serve as a regulatory subunit and allow allosteric feedback inhibition of GMPPB by GDP-mannose (420 aa) | |||
| EIF2B3 | Translation initiation factor eIF-2B subunit gamma; Catalyzes the exchange of eukaryotic initiation factor 2-bound GDP for GTP; Belongs to the eIF-2B gamma/epsilon subunits family (452 aa) | |||
| CSNK1G3 | Casein kinase I isoform gamma-3; Serine/threonine-protein kinase. Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. It can phosphorylate a large number of proteins. Participates in Wnt signaling. Regulates fast synaptic transmission mediated by glutamate (By similarity) (455 aa) | |||
| PNLIP | Pancreatic lipase; Belongs to the AB hydrolase superfamily. Lipase family (465 aa) | |||
| FUCA1 | Tissue alpha-L-fucosidase; Alpha-L-fucosidase is responsible for hydrolyzing the alpha-1,6-linked fucose joined to the reducing-end N- acetylglucosamine of the carbohydrate moieties of glycoproteins (466 aa) | |||
| OMD | Osteomodulin; May be implicated in biomineralization processes. Has a function in binding of osteoblasts via the alpha(V)beta(3)- integrin (By similarity); Small leucine rich repeat proteoglycans (421 aa) | |||
| CTRC | Chymotrypsin-C; Regulates activation and degradation of trypsinogens and procarboxypeptidases by targeting specific cleavage sites within their zymogen precursors. Has chymotrypsin-type protease activity and hypocalcemic activity (268 aa) | |||
| COL4A6 | Collagen alpha-6(IV) chain; Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a ’chicken-wire’ meshwork together with laminins, proteoglycans and entactin/nidogen (1707 aa) | |||
| STIM2 | Stromal interaction molecule 2; Plays a role in mediating store-operated Ca(2+) entry (SOCE), a Ca(2+) influx following depletion of intracellular Ca(2+) stores. Functions as a highly sensitive Ca(2+) sensor in the endoplasmic reticulum which activates both store-operated and store-independent Ca(2+)-influx. Regulates basal cytosolic and endoplasmic reticulum Ca(2+) concentrations. Upon mild variations of the endoplasmic reticulum Ca(2+) concentration, translocates from the endoplasmic reticulum to the plasma membrane where it probably activates the Ca(2+) release-activated Ca(2+) (CRA [...] (754 aa) | |||
| ZNF706 | Zinc finger protein 706; Transcription repressor involved in the exit of embryonic stem cells (ESCs) from self-renewal. Acts by repressing expression of KLF4 (76 aa) | |||
| GTSF1 | Gametocyte-specific factor 1; Required for spermatogenesis and is involved in the suppression of retrotransposon transcription in male germ cells (167 aa) | |||
| TAZ | Tafazzin; Some isoforms may be involved in cardiolipin (CL) metabolism; Belongs to the taffazin family (292 aa) | |||
| ENSG00000259316 | Casein kinase I isoform gamma-1 (404 aa) | |||
