|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:cancer
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for BRCA1 mutations
|
|
gptkbp:discoveredBy
|
gptkb:Mary-Claire_King
|
|
gptkbp:discoveredIn
|
1994
|
|
gptkbp:encodes
|
gptkb:BRCA1_protein
|
|
gptkbp:Entrez_Gene_ID
|
672
ENSG00000012048
|
|
gptkbp:expressedIn
|
other tissues
breast tissue
ovarian tissue
|
|
gptkbp:firstDescribed
|
gptkb:Science_journal
1994
|
|
gptkbp:fullName
|
gptkb:Breast_cancer_type_1_susceptibility_protein
|
|
gptkbp:function
|
DNA repair
tumor suppression
|
|
gptkbp:HGNC_ID
|
HGNC:1100
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
BRCA1 gene
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
gptkb:CHEK2
gptkb:BARD1
gptkb:PALB2
gptkb:BRCA2
gptkb:RAD51
ATM
|
|
gptkbp:length
|
about 81 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
17q21.31
|
|
gptkbp:mouseHomolog
|
Brca1
|
|
gptkbp:mutationAssociatedWith
|
germline mutation
somatic mutation
|
|
gptkbp:numberOfExons
|
24
|
|
gptkbp:OMIM
|
113705
|
|
gptkbp:orthologInMouse
|
Brca1
|
|
gptkbp:pathway
|
Fanconi anemia pathway
homologous recombination
DNA double-strand break repair
|
|
gptkbp:proteinFamily
|
gptkb:BRCT_domain
RING finger domain
|
|
gptkbp:regulates
|
apoptosis
transcription
cell cycle
ubiquitination
chromatin remodeling
|
|
gptkbp:relatedSyndrome
|
gptkb:hereditary_breast_and_ovarian_cancer_syndrome
|
|
gptkbp:therapeuticArea
|
PARP inhibitors
|
|
gptkbp:UniProtID
|
P38398
|
|
gptkbp:yeastHomolog
|
gptkb:RAD51
|
|
gptkbp:bfsParent
|
gptkb:Decoding_Annie_Parker
gptkb:BRCA1_mutation
|
|
gptkbp:bfsLayer
|
6
|