|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:cancer
|
|
gptkbp:clinicalTrialPhase
|
genetic testing
|
|
gptkbp:discoveredBy
|
gptkb:Mary-Claire_King
|
|
gptkbp:discoveredIn
|
1990
|
|
gptkbp:encodes
|
gptkb:BRCA1_protein
|
|
gptkbp:Entrez_Gene_ID
|
672
|
|
gptkbp:expressedIn
|
various tissues
breast tissue
ovarian tissue
|
|
gptkbp:fullName
|
gptkb:Breast_cancer_type_1_susceptibility_protein
|
|
gptkbp:function
|
DNA repair
tumor suppression
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
1100
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
BRCA1
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:interactsWith
|
gptkb:CHEK2
gptkb:BARD1
gptkb:PALB2
gptkb:p53
gptkb:BRCA2
gptkb:RAD51
ATM
|
|
gptkbp:involvedIn
|
homologous recombination
cell cycle checkpoint control
|
|
gptkbp:length
|
1863 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
17q21.31
|
|
gptkbp:mutationAssociatedWith
|
germline mutation
somatic mutation
increased cancer risk
genomic instability
|
|
gptkbp:OMIM
|
113705
|
|
gptkbp:orthologInFruitFly
|
brca2
|
|
gptkbp:orthologInMouse
|
Brca1
|
|
gptkbp:orthologInZebrafish
|
brca1
|
|
gptkbp:PDB
|
gptkb:1JM7
|
|
gptkbp:regulates
|
transcription
cell cycle
DNA damage response
|
|
gptkbp:relatedSyndrome
|
gptkb:hereditary_breast_and_ovarian_cancer_syndrome
|
|
gptkbp:UniProtID
|
P38398
|
|
gptkbp:bfsParent
|
gptkb:ENSG00000145675
gptkb:HGNC:1097
gptkb:WAF1_gene
gptkb:RB1
gptkb:BRCM
gptkb:FANCD2
gptkb:FANCJ
gptkb:FANCN
gptkb:FANCS
gptkb:ENSG00000142168
gptkb:chromosome_17
gptkb:ENSG00000171862
gptkb:ENSP00000256078
gptkb:advanced_hormone_receptor-positive,_HER2-negative_breast_cancer
|
|
gptkbp:bfsLayer
|
6
|