BRIP1 Antibody – Rabbit Polyclonal

The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]

BRIP1: a DNA-dependent ATPase and DNA helicase required for the maintenance of chromosomal stability. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1. Binds directly to the BRCT domains of BRCA1. Defects in BRIP1 cause of susceptibility to breast cancer and Fanconi anemia. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Belongs to the DEAD box helicase family, DEAH subfamily. Two alternatively spliced human isoforms have been described.

Protein type: EC 3.6.4.13; Helicase; Oncoprotein

Chromosomal Location of Human Ortholog: 17q23.2

Cellular Component: cytoplasm; nuclear membrane; nucleoplasm; nucleus

Molecular Function: protein binding

Biological Process: DNA replication; DNA synthesis during DNA repair; regulation of transcription from RNA polymerase II promoter; strand displacement

Disease: Breast Cancer; Fanconi Anemia, Complementation Group J; Tracheoesophageal Fistula With Or Without Esophageal Atresia