BRIP1

GPTKB entity

Statements (68)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alsoKnownAs gptkb:BACH1
gptkb:FANCJ
gptkbp:associatedWith gptkb:hereditary_breast_cancer
gptkb:Fanconi_anemia
hereditary ovarian cancer
gptkbp:clinicalTrialPhase genetic testing for cancer risk
gptkbp:discoveredBy 2001
gptkbp:encodes gptkb:BRIP1_protein
gptkbp:Entrez_Gene_ID 83990
ENSG00000136492
gptkbp:expressedIn various human tissues
gptkbp:fullName gptkb:BRCA1_interacting_protein_C-terminal_helicase_1
gptkbp:function DNA repair
DNA helicase activity
gptkbp:geneType protein-coding
gptkbp:HGNC_ID 20473
https://www.w3.org/2000/01/rdf-schema#label BRIP1
gptkbp:interactsWith gptkb:ATR
gptkb:RPA
gptkb:MLH1
gptkb:CtIP
gptkb:PALB2
gptkb:BLM
gptkb:FANCA
gptkb:FANCB
gptkb:FANCC
gptkb:FANCD2
gptkb:FANCE
gptkb:FANCF
gptkb:FANCG
gptkb:FANCI
gptkb:FANCL
gptkb:FANCM
gptkb:FANCN
gptkb:FANCP
gptkb:FANCR
gptkb:FANCS
gptkb:CHEK1
gptkb:TOPBP1
gptkb:BRCA1
gptkb:RAD51
gptkb:FANCD1
gptkb:FANCO
gptkb:MRE11
FANCT
gptkbp:length 1249 amino acids
gptkbp:locatedOnChromosome gptkb:17q23.2
gptkbp:mutationAssociatedWith gptkb:COSMIC
gptkb:ClinVar
gptkb:LOVD
germline
increased cancer risk
somatic
gptkbp:OMIM 605882
gptkbp:orthologInMouse gptkb:Brip1
gptkbp:orthologInZebrafish brip1
gptkbp:pathway Fanconi anemia pathway
homologous recombination repair
gptkbp:proteinFamily iron-sulfur cluster domain
DEAH-box helicase family
helicase ATP-binding domain
helicase C-terminal domain
gptkbp:regulates histone modification
transcriptional regulation
gptkbp:UniProtID gptkb:Q9BX63
gptkbp:bfsParent gptkb:FANCJ
gptkbp:bfsLayer 6