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: | PBRM1 |
| Gene Name: | PBRM1 |
| Protein Full Name: | Protein polybromo-1 |
| Alias: | BRG1-associated factor 180; Polybromo-1D |
| Mass (Da): | 192948 |
| Number AA: | 1689 |
| UniProt ID: | Q86U86 |
| Locus ID: | 55193 |
| COSMIC ID: | PBRM1 |
| Gene location on chromosome: | 3p21.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20894 |
| Percent of cancer specimens with mutations: | 3.89 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Wide range over whole protein with many point mutations, deletions and insertions |
| Normal role description: | PBRM1 is a component of the ATP-dependent SWI/SNF-B (PBAF) nucleosome remodeling complex which regulates transcription. The PBAF complex is required for transcription of genes activated by hormone receptors. PBRM1 primarily functions to negatively regulate cell proliferation and is suggested to be a tumour suppressor protein. As such, dysfunction of PBRM1 caused by truncation or deletion mutations have been heavily implicated in the development of renal cancers. |