Details for Gene BRCA1

GENE NAME BRCA1
CHROMOSOME 17
ENSEMBL ID None
ENTREZ ID ENSG00000012048
UNIPROT ACCESSION NUMBER P38398
GO MOLECULAR FUNCTION ['DNA binding', 'zinc ion binding', 'ubiquitin-protein transferase activity', 'enzyme binding', 'ubiquitin protein ligase binding', 'tubulin binding', 'RNA polymerase binding', 'damaged DNA binding', 'transcription cis-regulatory region binding', 'RNA binding', 'transcription coactivator activity', 'protein binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa01524; hsa03440; hsa03460; hsa04120; hsa04151; hsa05206; hsa05224; R-HSA-1221632; R-HSA-1474165; R-HSA-1500620; R-HSA-1640170; R-HSA-1643685; R-HSA-212436; R-HSA-2990846; R-HSA-3108214; R-HSA-3108232; R-HSA-3700989; R-HSA-392499; R-HSA-5633007; R-HSA-5685938; R-HSA-5685942; R-HSA-5688426; R-HSA-5689901; R-HSA-5693532; R-HSA-5693537; R-HSA-5693538; R-HSA-5693554; R-HSA-5693565; R-HSA-5693567; R-HSA-5693568; R-HSA-5693571; R-HSA-5693579; R-HSA-5693606; R-HSA-5693607; R-HSA-5693616; R-HSA-597592; R-HSA-6796648; R-HSA-6804756; R-HSA-69473; R-HSA-69481; R-HSA-69620; R-HSA-73857; R-HSA-73894; R-HSA-74160; R-HSA-8953750; R-HSA-912446; R-HSA-9663199; R-HSA-9675135; R-HSA-9675136; R-HSA-9699150
3 combinations linked to BRCA1 OLI722; OLI748; OLI1696
3 variants linked to BRCA1 BRCA1:c.2521C>T, p.Arg841Trp; BRCA1:c.4039A>G, p.Arg1347Gly; BRCA1:c.2681_2682delAA, p.Lys894ThrfsTer8
2 diseases linked to BRCA1 Isolated anencephaly; Colorectal cancer
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