BRIP1

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.

Full Name

BRIP1

Function

DNA-dependent ATPase and 5' to 3' DNA helicase required for the maintenance of chromosomal stability. Acts late in the Fanconi anemia pathway, after FANCD2 ubiquitination. Involved in the repair of DNA double-strand breaks by homologous recombination in a manner that depends on its association with BRCA1.

Biological Process

Cellular response to angiotensin Source: Ensembl
Cellular response to hypoxia Source: Ensembl
Cellular response to vitamin Source: Ensembl
Chiasma assembly Source: Ensembl
DNA damage checkpoint Source: UniProtKB
DNA replication Source: Reactome
Double-strand break repair Source: UniProtKB
Double-strand break repair involved in meiotic recombination Source: GO_Central
Meiotic DNA double-strand break processing involved in reciprocal meiotic recombination Source: Ensembl
Negative regulation of cell population proliferation Source: Ensembl
Negative regulation of gene expression Source: Ensembl
Nucleotide-excision repair Source: GO_Central
Regulation of signal transduction by p53 class mediator Source: Reactome
Regulation of transcription by RNA polymerase II Source: MGI
Response to toxic substance Source: Ensembl
Seminiferous tubule development Source: Ensembl
Spermatid development Source: Ensembl
Spermatogonial cell division Source: Ensembl

Cellular Location

Nucleus; Cytoplasm

Involvement in disease

Breast cancer (BC): A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.
Fanconi anemia complementation group J (FANCJ): A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

PTM

Phosphorylated. Phosphorylation is necessary for interaction with BRCA1, and is cell-cycle regulated.
Acetylation at Lys-1249 facilitates DNA end processing required for repair and checkpoint signaling.