BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is an endogenous protein belonging to DEAH family of DNA helicases. It is an interacting partner of BRCA1 protein. It is a nuclear protein and functions both as an ATP-dependent DNA helicase and DNA-dependent ATPase. This gene is located on chromosome 17q22, is 180kb long and contains 20 exons. BRIP1 protein is composed of 1,249 amino acids and is universally expressed.
Synonyms: Anti-BACH1; Anti-BRCA1 interacting protein C-terminal helicase 1; Anti-FANCJ; Anti-OF
Storage: -20C
Application: Applications in which this antibody has been used successfully, and the associated peer-reviewed papers, are given below.Immunohistochemistry (1 paper)
Biochem Physiol Actions: BRCA1 interacting protein C-terminal helicase 1 (BRIP1) plays a key role in BRCA1-dependent DNA repair and checkpoint activities, and interacts with the BRCT domain of BRCA1. It aids BRCA1 in its tumor suppressor function and the repair of DNA double strand breaks by forming a complex with it. Mutations in BRIP1 are linked with Fanconi anemia, which is characterized by predisposition to cancer, developmental abnormalities and bone marrow failure. Studies suggest that mutations in this gene are linked to early onset breast cancer. Inactivation of BRIP1 gene leads to disruption of mammary morphogenesis and causes aberrant mammary acinar morphogenesis. Studies show that polymorphisms in this gene are linked to susceptibility to cervical cancer.
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