|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:IRIS
gptkb:BRCC1
gptkb:RNF53
gptkb:PSCP
gptkb:PNCA4
|
|
gptkbp:associatedWith
|
gptkb:cancer
gptkb:hereditary_breast_and_ovarian_cancer_syndrome
|
|
gptkbp:discoveredIn
|
1994
|
|
gptkbp:domain
|
gptkb:BRCT_domain
RING finger domain
|
|
gptkbp:Entrez_Gene_ID
|
672
ENSG00000012048
|
|
gptkbp:fullName
|
gptkb:BRCA1_DNA_repair_associated
|
|
gptkbp:function
|
gptkb:tumor_suppressor
DNA repair
|
|
gptkbp:gene
|
gptkb:BRCA1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
NM_007294.3
NM_007298.3
NM_007299.4
|
|
gptkbp:interactsWith
|
gptkb:CHEK2
gptkb:BARD1
gptkb:PALB2
gptkb:p53
gptkb:BRCA2
gptkb:RAD51
gptkb:ATM
|
|
gptkbp:length
|
1863 amino acids
|
|
gptkbp:locatedOnChromosome
|
17
|
|
gptkbp:location
|
gptkb:nucleus
|
|
gptkbp:locusType
|
17q21.31
|
|
gptkbp:mainTerminal
|
GO:0005515
GO:0005634
GO:0003677
GO:0006281
GO:0006974
|
|
gptkbp:molecularWeight
|
220 kDa
|
|
gptkbp:mutationAssociatedWith
|
increased cancer risk
|
|
gptkbp:OMIM
|
113705
|
|
gptkbp:orthologIn
|
gptkb:mouse_Brca1
rat Brca1
zebrafish brca1
|
|
gptkbp:partOf
|
BRCA1-A complex
BRCA1-BARD1 complex
|
|
gptkbp:RefSeq
|
gptkb:NM_007294
|
|
gptkbp:reviewedBy
|
gptkb:GeneReviews
gptkb:OMIM
gptkb:UniProtKB
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:UniProtID
|
P38398
|
|
gptkbp:bfsParent
|
gptkb:BCL2
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
HGNC:990
|