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

More general terms

• DEAD box ATP-dependent helicase
• phosphoprotein
• nuclear protein

Additional terms

• breast cancer

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=83990
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:83990
• OMIM: https://mirror.omim.org/entry/114480
• OMIM: https://mirror.omim.org/entry/227650
• OMIM: https://mirror.omim.org/entry/605882
• OMIM: https://mirror.omim.org/entry/609054
• UniProt: http://www.uniprot.org/uniprot/Q9BX63.html