|
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
|
|
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
|
gptkb:histone_modification
transcriptional regulation
|
|
gptkbp:UniProtID
|
gptkb:Q9BX63
|
|
gptkbp:bfsParent
|
gptkb:FANCJ
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
BRIP1
|