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: | SMARCB1 |
| Gene Name: | SMARCB1 |
| Protein Full Name: | SWI/SNF-related matrix-associated actin-dependent |
| Alias: | BAF47; INI1; integrase interactor 1; SNF5; SNF5L1 |
| Mass (Da): | 44141 |
| Number AA: | 385 |
| UniProt ID: | Q12824 |
| Locus ID: | 6598 |
| COSMIC ID: | SMARCB1 |
| Gene location on chromosome: | 22q11.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 23270 |
| Percent of cancer specimens with mutations: | 2.48 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, insertions and deletions over entire protein length. |
| Mutations observed as inherited: | rhabdoid predisposition syndrome. |
| Normal role description: | SMARCB1 is a component of the SWI/SNF complex required for chromatin remodeling. Chromatin remodeling is a required mechanism for transcriptional activation of genes. SMARCB1 mediate SWI/SNF targetting to genes through transcription factors such as MYC. SMARCB1 also appears to have a role in regulating the cell cycle. This protein has also been identified to be frequently mutated in the development of an aggressive form of cancer termed rhabdoid tumours. Typically mutations lead to deletion or inactivating mis-sense mutations which would classify SMARCB1 as a tumour suppressor protein. It can interact with HIV-1 integrase and enhance its activity. In rhabdoid tumors function is often lost via mutation and results in oncogenesis. |