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: | BARD1 |
Gene Name: | BARD1 |
Protein Full Name: | BRCA1-associated RING domain protein 1 |
Mass (Da): | 86648 |
Number AA: | 777 |
UniProt ID: | Q99728 |
Locus ID: | 580 |
COSMIC ID: | BARD1 |
Gene location on chromosome: | 2q35 |
Cancer protein type: | OP |
Effect of active protein on cancer: | PROMOTES |
Number of cancer specimens: | 19907 |
Percent of cancer specimens with mutations: | 0.58 |
Mutations observed as inherited: | 3 mutations have been reported Inherited in breast and ovarian cancers. |
Normal role description: | Function as a heterodimer with BRCA1 as ubiquitin ligase. Involve in DNA repair, cell cycle control, mitosis, and polyadenylation.Act as an inducer of apoptosis by binding to p53. |