BRCA1 DNA repair associated

URI: https://gptkb.org/entity/BRCA1_DNA_repair_associated
GPTKB entity
Statements (49)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alsoKnownAs gptkb:BRCA1
gptkbp:associatedWith gptkb:cancer
gptkbp:clinicalTrialPhase genetic testing for hereditary breast and ovarian cancer
gptkbp:discoveredBy gptkb:Mary-Claire_King
gptkbp:encodes gptkb:BRCA1_protein
gptkbp:Entrez_Gene_ID 672
gptkbp:expressedIn gptkb:nucleus
gptkbp:firstDescribed 1990
gptkbp:function DNA repair
tumor suppression
gptkbp:gene gptkb:BRCA1
gptkbp:geneType protein-coding
gptkbp:HGNC_ID HGNC:1100
https://www.w3.org/2000/01/rdf-schema#label BRCA1 DNA repair associated
gptkbp:interactsWith gptkb:CHEK2
gptkb:BARD1
gptkb:PALB2
gptkb:p53
gptkb:BRCA2
gptkb:RAD51
ATM
gptkbp:involvedIn apoptosis
genome stability
ubiquitination
homologous recombination
cell cycle checkpoint control
transcriptional regulation
chromatin remodeling
gptkbp:length 1863 amino acids
81,189 base pairs
gptkbp:locatedOnChromosome 17q21.31
gptkbp:mutationAssociatedWith nonsense
missense
increased cancer risk
frameshift
1 in 40 in Ashkenazi Jews
1 in 400 in general population
gptkbp:numberOfExons 24
gptkbp:OMIM 113705
gptkbp:orthologInMouse Brca1
gptkbp:proteinFamily gptkb:BRCT_domain
RING finger domain
gptkbp:regulates cell proliferation
transcription
gptkbp:species gptkb:Homo_sapiens
gptkbp:UniProtID P38398
gptkbp:bfsParent gptkb:HGNC:1097
gptkbp:bfsLayer 6