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USP30 | ubiquitin specific peptidase 30; May participate in the maintenance of mitochondrial morphology (517 aa) | |||
USP44 | ubiquitin specific peptidase 44; Deubiquitinase that plays a key regulatory role in the spindle assembly checkpoint or mitotic checkpoint by preventing premature anaphase onset. Acts by specifically mediating deubiquitination of CDC20, a negative regulator of the anaphase promoting complex/cyclosome (APC/C). Deubiquitination of CDC20 leads to stabilize the MAD2L1-CDC20-APC/C ternary complex (also named mitotic checkpoint complex), thereby preventing premature activation of the APC/C. Promotes association of MAD2L1 with CDC20 and reinforces the spindle assembly checkpoint. Acts as a neg [...] (712 aa) | |||
HEXB | hexosaminidase B (beta polypeptide); Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues (556 aa) | |||
USP22 | ubiquitin specific peptidase 22; Histone deubiquitinating component of the transcription regulatory histone acetylation (HAT) complex SAGA. Catalyzes the deubiquitination of both histones H2A and H2B, thereby acting as a coactivator. Recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation and cell cycle progression (525 aa) | |||
DNMT3A | DNA (cytosine-5-)-methyltransferase 3 alpha; Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. It modifies DNA in a non-processive manner and also methylates non-CpG sites. May preferentially methylate DNA linker between 2 nucleosomal cores and is inhibited by histone H1. Plays a role in paternal and maternal imprinting. Required for methylation of most imprinted loci in germ cells. Acts as a transcriptional corepressor for ZBTB18. Can actively [...] (912 aa) | |||
HEXA | hexosaminidase A (alpha polypeptide); Responsible for the degradation of GM2 gangliosides, and a variety of other molecules containing terminal N-acetyl hexosamines, in the brain and other tissues. The form B is active against certain oligosaccharides. The form S has no measurable activity (529 aa) | |||
HIST1H4H | histone cluster 1, H4h (103 aa) | |||
USP49 | ubiquitin specific peptidase 49 (640 aa) | |||
B4GALT6 | UDP-Gal-betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6; Required for the biosynthesis of glycosphingolipids (382 aa) | |||
GLB1 | galactosidase, beta 1; Cleaves beta-linked terminal galactosyl residues from gangliosides, glycoproteins, and glycosaminoglycans (677 aa) | |||
STAB1 | stabilin 1; Acts as a scavenger receptor for acetylated low density lipoprotein. Binds to both Gram-positive and Gram-negative bacteria and may play a role in defense against bacterial infection. When inhibited in endothelial tube formation assays, there is a marked decrease in cell-cell interactions, suggesting a role in angiogenesis. Involved in the delivery of newly synthesized CHID1/SI-CLP from the biosynthetic compartment to the endosomal/lysosomal system (2570 aa) | |||
ST8SIA5 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5; May be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b and GT3 from GD1a, GT1b, GM1b and GD3 respectively (376 aa) | |||
DNMT3B | DNA (cytosine-5-)-methyltransferase 3 beta (853 aa) | |||
B4GALNT1 | beta-1,4-N-acetyl-galactosaminyl transferase 1; Involved in the biosynthesis of gangliosides GM2, GD2 and GA2 (533 aa) | |||
SLC33A1 | solute carrier family 33 (acetyl-CoA transporter), member 1; Probable acetyl-CoA transporter necessary for O- acetylation of gangliosides (549 aa) | |||
H2AFX | H2A histone family, member X; 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 resp [...] (143 aa) | |||
ST3GAL5 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5; Catalyzes the formation of ganglioside GM3 (alpha-N- acetylneuraminyl-2,3-beta-D-galactosyl-1, 4-beta-D- glucosylceramide) (418 aa) | |||
ITM2B | integral membrane protein 2B; Plays a regulatory role in the processing of the beta- amyloid A4 precursor protein (APP) and acts as an inhibitor of the beta-amyloid peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites (266 aa) | |||
POSTN | periostin, osteoblast specific factor; Enhances incorporation of BMP1 in the fibronectin matrix of connective tissues, and subsequent proteolytic activation of lysyl oxidase LOX (By similarity). Induces cell attachment and spreading and plays a role in cell adhesion. May play a role in extracellular matrix mineralization (836 aa) | |||
USP3 | ubiquitin specific peptidase 3; Hydrolase that deubiquitinates monoubiquitinated target proteins such as histone H2A and H2B. Required for proper progression through S phase and subsequent mitotic entry. May regulate the DNA damage response (DDR) checkpoint through deubiquitination of H2A at DNA damage sites. Associates with the chromatin (520 aa) | |||
ST8SIA1 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1; Involved in the production of gangliosides GD3 and GT3 from GM3; gangliosides are a subfamily of complex glycosphinglolipds that contain one or more residues of sialic acid (356 aa) | |||
B3GALT4 | UDP-Gal-betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (378 aa) | |||
ATXN7L3 | ataxin 7-like 3; Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. Within the complex, it is required to recruit USP22 and ENY2 into [...] (354 aa) | |||
TGFBI | transforming growth factor, beta-induced, 68kDa (683 aa) | |||
USP51 | ubiquitin specific peptidase 51 (711 aa) | |||
ENY2 | enhancer of yellow 2 homolog (Drosophila); Component of the transcription regulatory histone acetylation (HAT) complex SAGA, a multiprotein complex that activates transcription by remodeling chromatin and mediating histone acetylation and deubiquitination. Within the SAGA complex, participates in a subcomplex that specifically deubiquitinates both histones H2A and H2B. The SAGA complex is recruited to specific gene promoters by activators such as MYC, where it is required for transcription. Required for nuclear receptor-mediated transactivation. May also participate in mRNA export and [...] (101 aa) |