BRCA1, DNA repair associated

URI: https://gptkb.org/entity/BRCA1,_DNA_repair_associated
GPTKB entity
Statements (50)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alsoKnownAs gptkb:BRCA1
gptkbp:associatedWith gptkb:cancer
gptkbp:clinicalTrialPhase genetic testing for mutations
gptkbp:discoveredBy gptkb:Mary-Claire_King
gptkbp:encodes gptkb:BRCA1_protein
gptkbp:Entrez_Gene_ID 672
gptkbp:exons 24
gptkbp:expressedIn various tissues
breast tissue
ovarian tissue
gptkbp:firstDescribed 1990
gptkbp:function DNA repair
tumor suppression
gptkbp:geneType protein-coding
gptkbp:hasTranscriptVariant multiple
gptkbp:HGNC_ID 1100
https://www.w3.org/2000/01/rdf-schema#label BRCA1, DNA repair associated
gptkbp:inheritsFrom autosomal dominant
gptkbp:interactsWith gptkb:BARD1
gptkb:PALB2
gptkb:BRCA2
gptkb:RAD51
gptkbp:involvedIn homologous recombination
cell cycle checkpoint control
gptkbp:length 1863 amino acids
81,189 base pairs
gptkbp:locatedOnChromosome 17q21.31
gptkbp:mutationAssociatedWith germline
increased cancer risk
somatic
genomic instability
gptkbp:OMIM 113705
gptkbp:orthologInMouse Brca1
gptkbp:orthologInYeast gptkb:RAD51
gptkbp:pathway cell cycle regulation
Fanconi anemia pathway
DNA double-strand break repair
gptkbp:proteinFamily gptkb:BRCT_domain
RING finger domain
gptkbp:regulates transcription
ubiquitination
chromatin remodeling
gptkbp:species gptkb:Homo_sapiens
gptkbp:target PARP inhibitors
gptkbp:UniProtID P38398
gptkbp:bfsParent gptkb:HGNC:746
gptkb:HGNC:756
gptkb:HGNC:959
gptkbp:bfsLayer 7