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Fanconi anemia group J protein; protein FACJ; ATP-dependent RNA helicase BRIP1; BRCA1-associated C-terminal helicase 1; BRCA1-interacting protein C-terminal helicase 1; BRCA1-interacting protein 1 (BRIP1, BACH1, FANCJ)
Function:
- DNA-dependent ATPase & 5' to 3' DNA helicase required for the maintenance of chromosomal stability
- acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination
- role in repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1
- phosphorylated
- phosphorylation is necessary for interaction with BRCA1, & is cell-cycle regulated
- binds directly to the BRCT domains of BRCA1
ATP + H2O = ADP + phosphate
Structure:
- belongs to the DEAD box helicase family, DEAH subfamily
- contains 1 helicase ATP-binding domain
Compartment: nucleus
Alternative splicing: named isoforms=2
Expression:
- ubiquitously expressed
- highest levels in testis
Pathology:
- defects in BRIP1/FANCJ are a cause of susceptibility to breast cancer
- defects in BRIP1 are the cause of Fanconi anemia complementation group J
Related
breast cancer
General
DEAD box ATP-dependent helicase
nuclear protein
phosphoprotein
Properties
SIZE: entity length = 1249 aa
MW = 141 kD
COMPARTMENT: cell nucleus
MOTIF: helicase
NAME: helicase
SITE: 11-442
MOTIF: Ser phosphorylation site {S77}
Ser phosphorylation site {S112}
Thr phosphorylation site {T113}
nuclear translocation signal {158-175}
ATP-binding site
NAME: ATP-binding site
SITE: 185-192
DEAD/H box
NAME: DEAD/H box
SITE: 393-396
BRCA1 interaction {888-1063}
MOTIF: Thr phosphorylation site {T918}
Tyr phosphorylation site {Y921}
Ser phosphorylation site {S927}
Ser phosphorylation site {S930}
Ser phosphorylation site {S990}
Ser phosphorylation site {S1031}
Ser phosphorylation site {S1032}
Database Correlations
OMIM correlations
MORBIDMAP 605882
UniProt Q9BX63
Pfam PF06733
Entrez Gene 83990
Kegg hsa:83990
ENZYME 3.6.4.13
References
- UniProt :accession Q9BX63
- Fanconi Anemia mutation Database
http://www.rockefeller.edu/fanconi/mutate/jumpj.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/BRIP1