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: Oncoprotein; Helicase; EC 3.6.4.13

Chromosomal Location of Human Ortholog: 17q22.2

Cellular Component: nuclear membrane; cytoplasm; nucleus

Molecular Function: ATP-dependent DNA helicase activity; protein binding; DNA binding; metal ion binding; 4 iron, 4 sulfur cluster binding; ATP binding

Biological Process: regulation of transcription from RNA polymerase II promoter; double-strand break repair; DNA damage checkpoint; DNA duplex unwinding

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