Details for Gene NOTCH1

GENE NAME NOTCH1
CHROMOSOME 9
ENSEMBL ID ENSG00000148400
ENTREZ ID 4851
UNIPROT ACCESSION NUMBER P46531
GO MOLECULAR FUNCTION enzyme inhibitor activity; calcium ion binding; Notch binding; chromatin DNA binding; protein binding; transcription coactivator activity; transmembrane signaling receptor activity; enzyme binding; identical protein binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-2644603; R-HSA-2894858; R-HSA-157118; R-HSA-1912420; R-HSA-2660825; R-HSA-5083630; R-HSA-2660826; R-HSA-1912422; R-HSA-1643685; hsa04919; R-HSA-5668914; hsa04658; R-HSA-1266738; R-HSA-2644607; hsa05165; R-HSA-3906995; hsa01522; R-HSA-2122947; R-HSA-9013695; R-HSA-212436; R-HSA-9013694; R-HSA-2644605; R-HSA-9013508; R-HSA-350054; R-HSA-5663202; R-HSA-74160; hsa05200; R-HSA-2691230; hsa04330; R-HSA-8878159; R-HSA-1912399; R-HSA-1912408; R-HSA-162582; R-HSA-1980143; R-HSA-186712; R-HSA-73857; hsa05020; R-HSA-2122948; R-HSA-2691232; hsa05224; R-HSA-2894862; R-HSA-9012852; R-HSA-8941856; R-HSA-2644602; R-HSA-3781865; hsa05206; R-HSA-210744; R-HSA-2644606
4 combinations linked to NOTCH1 OLI600; OLI597; OLI843; OLI604
4 variants linked to NOTCH1 NOTCH1:c.4930C>T, p.Leu1644=; NOTCH1:c.3597C>T, p.Leu1199=; NOTCH1:c.2734C>T, p.Arg912Trp; NOTCH1:c.3679C>T, p.Pro1227Ser
2 diseases linked to NOTCH1 Normosmic congenital hypogonadotropic hypogonadism; Disorder of sex development
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