Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | BRE |
| Gene Name: | BRE |
| Protein Full Name: | BRCA1-A complex subunit BRE |
| Alias: | Brain and reproductive organ-expressed protein; BRCA1/BRCA2-containing complex subunit 45; BRCC4; BRCC45; NFRSF1A modulator |
| Mass (Da): | 43552 |
| Number AA: | 383 |
| UniProt ID: | Q9NXR7 |
| Locus ID: | 9577 |
| COSMIC ID: | BRE |
| Gene location on chromosome: | 2p23.2 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 19806 |
| Percent of cancer specimens with mutations: | 0.43 |
| Normal role description: | The main functions of BRE are DNA-repair and anti-apoptosis via regulation of ubiquitination. It is a part of the BRCA1-A complex, which recognizes Lys-63-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to targeting of the BRCA1-BARD1 heterodimer to the sites at double-strand breaks. The complex also possesses deubiquitinase activity. BRE may play a role in homeostasis/cellular differentiation in neuronal-, epithelial- and germline cells and may act as a death receptor-associated anti-apoptotic protein, which inhibits the mitochondrial apoptotic pathway. |
| Commentary on involvement of protein in cancer: | Also mutated in 1% (1/101) of kidney tumour samples (silent mutation) |