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| ARSA | Arylsulfatase A; Hydrolyzes cerebroside sulfate; Belongs to the sulfatase family (509 aa) | |||
| STS | Steryl-sulfatase; Conversion of sulfated steroid precursors to estrogens during pregnancy; Sulfatases (583 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) | |||
| SETD1A | Histone-lysine N-methyltransferase SETD1A; Histone methyltransferase that specifically methylates ’Lys-4’ of histone H3, when part of the SET1 histone methyltransferase (HMT) complex, but not if the neighboring ’Lys- 9’ residue is already methylated. H3 ’Lys-4’ methylation represents a specific tag for epigenetic transcriptional activation. The non-overlapping localization with SETD1B suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatin structure and gene expression; Lysine methyltransferases (1707 aa) | |||
| TREH | Trehalase; Intestinal trehalase is probably involved in the hydrolysis of ingested trehalose; Belongs to the glycosyl hydrolase 37 family (583 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) | |||
| SETBP1 | SET binding protein 1 (1596 aa) | |||
| PLOD2 | Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2; Forms hydroxylysine residues in -Xaa-Lys-Gly- sequences in collagens. These hydroxylysines serve as sites of attachment for carbohydrate units and are essential for the stability of the intermolecular collagen cross-links (758 aa) | |||
| ANKRD40 | Ankyrin repeat domain-containing protein 40; Ankyrin repeat domain containing (368 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) | |||
| 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) | |||
| CLU | Clusterin; Isoform 1 functions as extracellular chaperone that prevents aggregation of nonnative proteins. Prevents stress- induced aggregation of blood plasma proteins. Inhibits formation of amyloid fibrils by APP, APOC2, B2M, CALCA, CSN3, SNCA and aggregation-prone LYZ variants (in vitro). Does not require ATP. Maintains partially unfolded proteins in a state appropriate for subsequent refolding by other chaperones, such as HSPA8/HSC70. Does not refold proteins by itself. Binding to cell surface receptors triggers internalization of the chaperone-client complex and subsequent lysosom [...] (449 aa) | |||
| COL4A5 | Collagen alpha-5(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; Collagens (1691 aa) | |||
| SUV39H1 | Histone-lysine N-methyltransferase SUV39H1; Histone methyltransferase that specifically trimethylates ’Lys-9’ of histone H3 using monomethylated H3 ’Lys- 9’ as substrate. Also weakly methylates histone H1 (in vitro). H3 ’Lys-9’ trimethylation represents a specific tag for epigenetic transcriptional repression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins to methylated histones. Mainly functions in heterochromatin regions, thereby playing a central role in the establishment of constitutive heterochromatin at pericentric and telomere regions. H3 ’Lys-9’ trimethylation is also requi [...] (423 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) | |||
| APOD | Apolipoprotein D; APOD occurs in the macromolecular complex with lecithin- cholesterol acyltransferase. It is probably involved in the transport and binding of bilin. Appears to be able to transport a variety of ligands in a number of different contexts; Apolipoproteins (189 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) | |||
| WDR34 | WD repeat-containing protein 34; Critical for ciliary functions, essential to normal development and survival, most probably as a previously unrecognized component of the mammalian dynein-motor-based intraflagellar transport (IFT) machinery. Acts as a negative regulator of the Toll-like and IL-1R receptor signaling pathways. Inhibits the MAP3K7-induced NF-kappa-B activation pathway. Inhibits MAP3K7 phosphorylation at ’Thr-184’ and ’Thr-187’ upon Il-1 beta stimulation; WD repeat domain containing (536 aa) | |||
| PPP3CA | Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform; Calcium-dependent, calmodulin-stimulated protein phosphatase. Many of the substrates contain a PxIxIT motif. This subunit may have a role in the calmodulin activation of calcineurin. Dephosphorylates DNM1L, HSPB1 and SSH1; Belongs to the PPP phosphatase family. PP-2B subfamily (521 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) | |||
| COL4A3 | Collagen alpha-3(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; Collagens (1670 aa) | |||
| COL4A4 | Collagen alpha-4(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 (1690 aa) | |||
| H2AFX | Histone H2AX; Variant histone H2A which replaces conventional H2A in a subset of nucleosomes. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair, DNA replication and chromosomal stability. DNA accessibility is regulated via a complex set of post-translational modifications of histones, also called histone code, and nucleosome remodeling. Required for checkpoint-mediated arrest of cell cycle progression in response to low dose [...] (143 aa) | |||
| ENSG00000268434 | Uncharacterized protein (132 aa) | |||
