ENSG00000125691

GPTKB entity

Statements (49)
Predicate Object
gptkbp:instanceOf Ensembl gene ID
gptkbp:associatedWith gptkb:cancer
gptkbp:discoveredBy gptkb:Mary-Claire_King
gptkbp:encodes gptkb:Breast_cancer_type_1_susceptibility_protein
gptkbp:Entrez_Gene_ID 672
ENSP00000350283
gptkbp:gene gptkb:BRCA1
gptkbp:geneType protein-coding
gptkbp:GO_term gptkb:nucleus
cell proliferation
DNA repair
regulation of cell cycle
apoptotic process
negative regulation of cell proliferation
protein binding
protein ubiquitination
ubiquitin-protein transferase activity
DNA binding
regulation of transcription, DNA-templated
cell cycle checkpoint
cellular response to stress
chromatin binding
double-strand break repair
tumor suppressor activity
cellular response to DNA damage stimulus
response to DNA damage stimulus
chromosome organization
protein complex assembly
regulation of apoptotic process
positive regulation of DNA repair
gptkbp:hasRefSeqID gptkb:NM_007294
gptkbp:hasTranscript ENST00000357654
gptkbp:HGNC_ID HGNC:1100
https://www.w3.org/2000/01/rdf-schema#label ENSG00000125691
gptkbp:isTumorSuppressor true
gptkbp:locatedOnChromosome gptkb:chromosome_17
43044295
43125482
gptkbp:OMIM 113705
gptkbp:organism gptkb:Homo_sapiens
gptkbp:PDB gptkb:1JM7
gptkb:1T15
1JLN
1JNX
1N50
gptkbp:strand minus
gptkbp:UniProtID P38398
gptkbp:bfsParent gptkb:GKLF
gptkbp:bfsLayer 7