|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alsoKnownAs
|
gptkb:BACH1
gptkb:BRIP1
gptkb:LOC64115
|
|
gptkbp:discoveredBy
|
gptkb:Tanya_T._Paull
|
|
gptkbp:discoveredIn
|
2001
|
|
gptkbp:domain
|
gptkb:DEAH_helicase_domain
iron-sulfur cluster domain
|
|
gptkbp:encodedBy
|
gptkb:BRIP1_gene
|
|
gptkbp:Entrez_Gene_ID
|
83990
|
|
gptkbp:function
|
gptkb:DNA_helicase
DNA repair
maintenance of genome stability
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
FANCJ
|
|
gptkbp:interactsWith
|
gptkb:RPA
gptkb:MLH1
gptkb:TopBP1
gptkb:FANCD2
gptkb:BRCA1
|
|
gptkbp:length
|
1249
|
|
gptkbp:locale
|
gptkb:nucleus
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_17
|
|
gptkbp:molecularWeight
|
141 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:hereditary_breast_cancer
gptkb:Fanconi_anemia
nonsense
missense
frameshift
splice site
|
|
gptkbp:OMIM
|
605882
|
|
gptkbp:orthologIn
|
gptkb:Danio_rerio
gptkb:Gallus_gallus
gptkb:Mus_musculus
|
|
gptkbp:PDB
|
gptkb:6VPC
gptkb:6VPD
gptkb:6VPE
6VPF
|
|
gptkbp:phosphorylates
|
gptkb:ATR
gptkb:CDK
ATM
|
|
gptkbp:reviewedBy
|
gptkb:Nature_Genetics
gptkb:Journal_of_Biological_Chemistry
Cell
|
|
gptkbp:role
|
homologous recombination
interstrand crosslink repair
replication stress response
|
|
gptkbp:significance
|
pathogenic
likely pathogenic
uncertain significance
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:UniProtID
|
gptkb:Q9BX63
|
|
gptkbp:bfsParent
|
gptkb:Fanconi_anemia
|
|
gptkbp:bfsLayer
|
5
|