Family

Breast cancer type 1 susceptibility protein (BRCA1) (IPR011364)

Short name: BRCA1

Family relationships

None.

Description

Breast cancer is a common malignancy, affecting 1 in 8 women. A major contributary factor in disease development lies in a positive family history, a correlation that is striking for early-onset breast cancer. Mutations in the DNA-damage repair protein BRCA1 [PMID: 10198641,PMID: 8232556] are believed to be responsible for 45% of inherited breast cancer and more than 80% of inherited breast and ovarian cancer.

The BRCA1 protein is a E3 ubiquitin-protein ligase that specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and plays a central role in DNA repair by facilitating cellular responses to DNA damage [PMID: 10500182, PMID: 10724175]. It contains an N-terminal zinc-finger domain. It also contains a BRCT C-terminal domain, an approximately 100 amino acid tandem repeat, which appears to act as a phospho-protein binding domain [PMID: 14576433].

GO terms

Biological Process

GO:0006281 DNA repair

Molecular Function

GO:0003677 DNA binding
GO:0004842 ubiquitin-protein transferase activity
GO:0008270 zinc ion binding

Cellular Component

GO:0005634 nucleus

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PIRSF
PRINTS
PANTHER