|
gptkbp:instanceOf
|
gptkb:Ensembl_gene_ID
|
|
gptkbp:alternativeName
|
gptkb:BRCC1
gptkb:RNF53
|
|
gptkbp:associatedWith
|
gptkb:cancer
|
|
gptkbp:discoveredBy
|
gptkb:Mary-Claire_King
|
|
gptkbp:discoveredIn
|
1990
|
|
gptkbp:encodes
|
gptkb:BRCA1_protein
|
|
gptkbp:Entrez_Gene_ID
|
672
ENSP00000350283
|
|
gptkbp:gene
|
gptkb:BRCA1
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GO_term
|
gptkb:nucleus
gptkb:cell_cycle_checkpoint
DNA repair
protein binding
ubiquitin-protein transferase activity
chromatin binding
double-strand break repair
tumor suppressor activity
|
|
gptkbp:hasProteinLength
|
1863 amino acids
|
|
gptkbp:hasRatOrtholog
|
Brca1
|
|
gptkbp:hasRefSeqID
|
gptkb:NM_007294
|
|
gptkbp:hasTranscript
|
ENST00000357654
|
|
gptkbp:hasTranscriptCount
|
23
|
|
gptkbp:hasYeastOrtholog
|
gptkb:RAD51
|
|
gptkbp:hasZebrafishOrtholog
|
brca1
|
|
gptkbp:HGNC_ID
|
HGNC:1100
|
|
gptkbp:isTumorSuppressor
|
true
|
|
gptkbp:locatedOn
|
gptkb:chromosome_17
|
|
gptkbp:numberOfExons
|
24
|
|
gptkbp:OMIM
|
113705
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Brca1
|
|
gptkbp:pathway
|
Cell cycle
Fanconi anemia pathway
Homologous recombination
p53 signaling pathway
|
|
gptkbp:PDB
|
gptkb:1JM7
gptkb:1T15
gptkb:1T29
|
|
gptkbp:reviewedBy
|
gptkb:GeneCards
gptkb:ClinVar
gptkb:OMIM
gptkb:UniProt
|
|
gptkbp:significance
|
pathogenic
likely pathogenic
risk factor for cancer
|
|
gptkbp:startPoint
|
43044295
43125482
|
|
gptkbp:strand
|
negative
|
|
gptkbp:UniProtID
|
P38398
|
|
gptkbp:bfsParent
|
gptkb:SOD1
|
|
gptkbp:bfsLayer
|
5
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ENSG00000142168
|