ENSG00000157554

URI: https://gptkb.org/entity/ENSG00000157554

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:gene
gptkbp:alias	gptkb:BROVCA1 gptkb:IRIS gptkb:FANCS gptkb:BRCC1 gptkb:PPP1R53 gptkb:RNF53 gptkb:PSCP
gptkbp:alternativeSplicing	yes
gptkbp:associatedWith	gptkb:cancer
gptkbp:discoveredBy	gptkb:Mary-Claire_King
gptkbp:discoveredIn	1990
gptkbp:encodes	gptkb:BRCA1
gptkbp:Entrez_Gene_ID	672
gptkbp:function	DNA repair transcription regulation cell cycle checkpoint control
gptkbp:gene	gptkb:BRCA1
gptkbp:hasPseudogene	yes
gptkbp:hasTranscript	gptkb:ENST00000544455 gptkb:ENST00000623083 ENST00000357654 ENST00000471181 ENST00000623084
gptkbp:HGNC_ID	HGNC:1100
gptkbp:isClinicallyActionable	true
gptkbp:isHereditaryCancerGene	true
gptkbp:isInvolvedInPathway	apoptosis cellular senescence base excision repair cell cycle DNA damage response Fanconi anemia pathway homologous recombination p53 signaling pathway ubiquitin-mediated proteolysis chromatin remodeling transcriptional misregulation in cancer
gptkbp:isTumorSuppressor	true
gptkbp:length	81,189 bp
gptkbp:locatedOnChromosome	gptkb:chromosome_17 17q21.31
gptkbp:numberOfExons	24
gptkbp:OMIM	113705
gptkbp:organism	gptkb:Homo_sapiens
gptkbp:orthologInMouse	Brca1
gptkbp:strand	minus
gptkbp:UniProtID	P38398
gptkbp:bfsParent	gptkb:ERG
gptkbp:bfsLayer	7
https://www.w3.org/2000/01/rdf-schema#label	ENSG00000157554