BRIP1
BRIP1 (BRCA1 interacting DNA helicase 1, also known as FANCJ, BACH1 and OF) is a DNA-dependent ATPase and 5'-3' DNA helicase required for the maintenance of chromosomal stability. It works with BRCA1 in double-strand break repair and acts in the Fanconi anaemia pathway. Browse Assay Genie's current range of BRIP1 research reagents below, or read on for the biology behind the target.
BRIP1 is a DNA-dependent ATPase and 5'-3' DNA helicase that is required for the maintenance of chromosomal stability. It acts late in the Fanconi anaemia pathway, after FANCD2 ubiquitination. It is also involved in repairing DNA double-strand breaks by homologous recombination, in a manner that depends on its association with BRCA1.
The BRIP1 protein also contributes to the repair of abasic sites at replication forks. It promotes the degradation of DNA-protein cross-links by catalysing the unfolding of the HMCES DNA-protein cross-link through its helicase activity. This exposes the underlying DNA and allows the SPRTN metalloprotease to cleave the DNA-protein adduct. In vitro, BRIP1 can unwind RNA:DNA substrates and G-quadruplex DNA; unwinding of G-quadruplex DNA requires a 5'-single stranded tail.
The BRIP1 gene encodes a member of the RecQ DEAH helicase family, which UniProt places in the DEAD box helicase family, DEAH subfamily. The protein interacts with the BRCT repeats of BRCA1, and this complex is important for the normal double-strand break repair function of BRCA1. HGNC lists the gene in the DEAH-box helicases, FA complementation groups and BRCA1 B complex groups. The protein is found in the nucleus and cytoplasm.
The gene symbol reflects its history: earlier names include BRCA1 interacting protein C-terminal helicase 1 and BRCA1 interacting helicase 1, and the aliases BACH1, FANCJ and OF are still in use. According to the NCBI Gene summary, the gene may be a target of germline cancer-inducing mutations. The mouse ortholog is Brip1.
BRIP1 participates in homologous recombination repair through its association with BRCA1, making it a focus for studies of genome maintenance.
BRIP1 acts late in the Fanconi anaemia pathway, after FANCD2 ubiquitination, and is also designated FANCJ.
BRIP1 helicase activity unfolds HMCES DNA-protein cross-links, allowing SPRTN to cleave the adduct at abasic sites.
BRIP1 unwinds G-quadruplex DNA and may be a target of germline cancer-inducing mutations, linking helicase biology to cancer research.
BRIP1 is a DNA-dependent ATPase and 5'-3' DNA helicase that maintains chromosomal stability. It supports homologous recombination repair of double-strand breaks with BRCA1, acts late in the Fanconi anaemia pathway, and helps resolve DNA-protein cross-links at replication forks.
BRIP1 is also known as FANCJ, BACH1 and OF, and its UniProt protein name is Fanconi anaemia group J protein. Earlier HGNC names were BRCA1 interacting helicase 1 and BRCA1 interacting protein C-terminal helicase 1. The enzyme is classified as EC 5.6.2.3.
The NCBI Gene summary notes that the BRIP1 gene may be a target of germline cancer-inducing mutations, and its protein binds the BRCT repeats of BRCA1. A mouse ortholog, Brip1, exists; check the datasheet of any product for its validated reactivity.
Other DNA repair factors, Fanconi anaemia pathway proteins and BRCA1 partners with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt Q9BX63; product specifications from Assay Genie datasheets.