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EIF2C2 | eukaryotic translation initiation factor 2C, 2; Required for RNA-mediated gene silencing (RNAi) by the RNA-induced silencing complex (RISC). The ’minimal RISC’ appears to include EIF2C2/AGO2 bound to a short guide RNA such as a microRNA (miRNA) or short interfering RNA (siRNA). These guide RNAs direct RISC to complementary mRNAs that are targets for RISC- mediated gene silencing. The precise mechanism of gene silencing depends on the degree of complementarity between the miRNA or siRNA and its target. Binding of RISC to a perfectly complementary mRNA generally results in silencing due [...] (859 aa) | |||
PSENEN | presenilin enhancer 2 homolog (C. elegans); Essential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (beta- amyloid precursor protein). Probably represents the last step of maturation of gamma-secretase, facilitating endoproteolysis of presenilin and conferring gamma-secretase activity (101 aa) | |||
ST3GAL4 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4; It may catalyze the formation of the NeuAc-alpha-2,3- Gal-beta-1,3-GalNAc- or NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. It may be involved in the biosynthesis of the sialyl Lewis X determinant. Also acts on the corresponding 1,3- galactosyl derivative (329 aa) | |||
NOTCH2 | notch 2 (2471 aa) | |||
APH1B | anterior pharynx defective 1 homolog B (C. elegans); Probable subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors and APP (beta-amyloid precursor protein). It probably represents a stabilizing cofactor for the presenilin homodimer that promotes the formation of a stable complex. Probably present in a minority of gamma-secretase complexes compared to APH1A (257 aa) | |||
TMED2 | transmembrane emp24 domain trafficking protein 2; Involved in vesicular protein trafficking. Mainly functions in the early secretory pathway but also in post-Golgi membranes. Thought to act as cargo receptor at the lumenal side for incorporation of secretory cargo molecules into transport vesicles and to be involved in vesicle coat formation at the cytoplasmic side. In COPII vesicle-mediated anterograde transport involved in the transport of GPI-anchored proteins and proposed to act togther with TMED10 as their cargo receptor; the function specifically implies SEC24C and SEC24D of the [...] (201 aa) | |||
ST3GAL3 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (444 aa) | |||
NOTCH3 | notch 3; Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity) (2321 aa) | |||
FURIN | furin (paired basic amino acid cleaving enzyme); Furin is likely to represent the ubiquitous endoprotease activity within constitutive secretory pathways and capable of cleavage at the RX(K/R)R consensus motif (794 aa) | |||
POGLUT1 | protein O-glucosyltransferase 1; UDP-glucosyltransferase (392 aa) | |||
DTX3L | deltex 3-like (Drosophila); Ubiquitin ligase that mediates monoubiquitination of ’Lys-91’ of histone H4 (H4K91ub1), in response to DNA damage. Protects cells exposed to DNA-damaging agents. The exact role of H4K91ub1 in DNA damage response is still unclear but it may function as a licensing signal for additional histone H4 post- translational modifications such as H4 ’Lys-20’ methylation (H4K20me). Involved in the recruitment of 53BP1/TP53BP1 to sites of DNA damage by mediating H4K91ub1 formation. In concert with PARP9, plays a role in PARP1-dependent DNA damage repair. PARP1- dependen [...] (740 aa) | |||
TNRC6C | trinucleotide repeat containing 6C; Plays a role in RNA-mediated gene silencing by micro- RNAs (miRNAs). Required for miRNA-dependent translational repression of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4- NOT and PAN deadenylase complexes (1726 aa) | |||
DTX3 | deltex homolog 3 (Drosophila); Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Probably acts both as a positive and negative regulator of Notch, depending on the developmental and cell context (By similarity). Functions as an ubiquitin ligase protein in vitro, suggesting that it may regulate the Notch pathway via some ubiquitin ligase activity (347 aa) | |||
RBPJL | recombination signal binding protein for immunoglobulin kappa J region-like; Putative transcription factor, which cooperates with EBNA2 to activate transcription (By similarity) (517 aa) | |||
RBPJ | recombination signal binding protein for immunoglobulin kappa J region; Transcriptional regulator that plays a central role in Notch signaling, a signaling pathway involved in cell-cell communication that regulates a broad spectrum of cell-fate determinations. Acts as a transcriptional repressor when it is not associated with Notch proteins. When associated with some NICD product of Notch proteins (Notch intracellular domain), it acts as a transcriptional activator that activates transcription of Notch target genes. Probably represses or activates transcription via the recruitment of c [...] (500 aa) | |||
APH1A | anterior pharynx defective 1 homolog A (C. elegans) (265 aa) | |||
EIF2C3 | eukaryotic translation initiation factor 2C, 3; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs (860 aa) | |||
EIF2C1 | eukaryotic translation initiation factor 2C, 1; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) or short interfering RNAs (siRNAs), and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for transcriptional gene silencing (TGS) of promoter regions which are complementary to bound short antigene RNAs (agRNAs) (857 aa) | |||
EIF2C4 | eukaryotic translation initiation factor 2C, 4; Required for RNA-mediated gene silencing (RNAi). Binds to short RNAs such as microRNAs (miRNAs) and represses the translation of mRNAs which are complementary to them. Lacks endonuclease activity and does not appear to cleave target mRNAs. Also required for RNA-directed transcription and replication of the human hapatitis delta virus (HDV) (861 aa) | |||
NOTCH4 | notch 4 (2003 aa) | |||
B4GALT1 | UDP-Gal-betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 (398 aa) | |||
ST3GAL6 | ST3 beta-galactoside alpha-2,3-sialyltransferase 6; Involved in the synthesis of sialyl-paragloboside, a precursor of sialyl-Lewis X determinant. Has a alpha-2,3- sialyltransferase activity toward Gal-beta1,4-GlcNAc structure on glycoproteins and glycolipids. Has a restricted substrate specificity, it utilizes Gal-beta1,4-GlcNAc on glycoproteins, and neolactotetraosylceramide and neolactohexaosylceramide, but not lactotetraosylceramide, lactosylceramide or asialo-GM1 (331 aa) | |||
TNRC6A | trinucleotide repeat containing 6A (1962 aa) | |||
ENSG00000223931 | annotation not available (97 aa) | |||
TNRC6B | trinucleotide repeat containing 6B; Plays a role in RNA-mediated gene silencing by both micro-RNAs (miRNAs) and short interfering RNAs (siRNAs). Required for miRNA-dependent translational repression and siRNA-dependent endonucleolytic cleavage of complementary mRNAs by argonaute family proteins. As scaffoldng protein associates with argonaute proteins bound to partially complementary mRNAs and simultaneously can recruit CCR4-NOT and PAN deadenylase complexes (1833 aa) | |||
MAMLD1 | mastermind-like domain containing 1; Transactivates the HES3 promoter independently of NOTCH proteins. HES3 is a non-canonical NOTCH target gene which lacks binding sites for RBPJ (998 aa) |