|
gptkbp:instanceOf
|
Ensembl gene ID
|
|
gptkbp:associatedWith
|
gptkb:cancer
|
|
gptkbp:discoveredBy
|
gptkb:Mary-Claire_King
|
|
gptkbp:discoveredIn
|
1994
|
|
gptkbp:encodes
|
gptkb:BRCA1
|
|
gptkbp:function
|
DNA repair
tumor suppression
|
|
gptkbp:gene
|
gptkb:BRCA1
|
|
gptkbp:geneType
|
protein_coding
|
|
gptkbp:GO_term
|
gptkb:GO:0008283
GO:0005515
GO:0005634
GO:0000724
GO:0003677
GO:0006281
GO:0006289
GO:0006974
GO:0000151
|
|
gptkbp:hasPseudogene
|
BRCA1P1
|
|
gptkbp:hasTranscript
|
gptkb:ENST00000544455
ENST00000357654
ENST00000471181
|
|
gptkbp:HGNC_ID
|
HGNC:1100
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ENSG00000138646
|
|
gptkbp:involvedIn
|
DNA damage response
genome stability
ubiquitination
cell cycle checkpoint
homologous recombination
transcriptional regulation
chromatin remodeling
|
|
gptkbp:locatedOnChromosome
|
17
17q21.31
|
|
gptkbp:NCBI_Gene_ID
|
672
|
|
gptkbp:OMIM
|
113705
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Brca1
|
|
gptkbp:pathway
|
KEGG: hsa03430
KEGG: hsa03440
KEGG: hsa05200
Reactome: R-HSA-5693532
|
|
gptkbp:product
|
gptkb:BRCA1_protein
|
|
gptkbp:startPoint
|
43044295
43125482
|
|
gptkbp:strand
|
negative
|
|
gptkbp:target
|
PARP inhibitors
|
|
gptkbp:UniProtID
|
P38398
|
|
gptkbp:bfsParent
|
gptkb:Gdf2
|
|
gptkbp:bfsLayer
|
7
|