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: | BAP1 |
| Gene Name: | BAP1 |
| Protein Full Name: | Ubiquitin carboxyl-terminal hydrolase BAP1 |
| Alias: | BRCA1 associated protein 1; BRCA1 associated protein-1; Cerebral protein-6; HUCEP-6; KIAA0272; Ubiquitin carboxyl-terminal hydrolase BAP1: BRCA1-associated protein 1: Cerebral protein 6; Ubiquitin carboxy-terminal hydrolase; Ubiquitin C-terminal hydrolase X4; UCHL2; UCH-X4 |
| Mass (Da): | 80362 |
| Number AA: | 729 |
| UniProt ID: | Q92560 |
| Locus ID: | 8314 |
| COSMIC ID: | BAP1 |
| Gene location on chromosome: | 3p21.31-p21.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 22199 |
| Percent of cancer specimens with mutations: | 2.54 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, insertions and deletions, but no complex mutations over entire protein length. |
| Mutations observed as inherited: | Squamous cell carcinomas and large cell undifferentiated carcinomas show loss of heterozygosity for the 3p21 locus |
| Normal role description: | BAP1 is a nuclear ubiquitin carboxy-terminal hydrolase involved in deubiquitination. It functions in protein complexes which has roles in tumour suppression, histone modification. Some interacting partners include BRCA1, BARD1HCFC1 and ASXL1. BAP1 functions primarily as a tumour supressor in the BAP1/BRCA1 complex. Mutations which disrupt this interaction can lead to cancer development. BAP1 has been implicated in the development of malignant pleural mesothelioma an aggressive form of cancer of the pleural membrane lining the chest. |
| Commentary on involvement of protein in cancer: | Less than 3% mutation in breast, and lung cancer. Not categorized: Skin; Benign melanocytic nevus; TRUE (3%); (3/104); Non-sense; Insertion Frameshift; Mis-sense. |