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: | BAK1 |
| Gene Name: | BAK1 |
| Protein Full Name: | Bcl-2 homologous antagonist/killer |
| Alias: | Apoptosis regulator BAK;Bcl-2-like protein 7 |
| Mass (Da): | 23409 |
| Number AA: | 211 |
| UniProt ID: | Q16611 |
| Locus ID: | 578 |
| COSMIC ID: | BAK1 |
| Gene location on chromosome: | 6p21.31 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20128 |
| Percent of cancer specimens with mutations: | 0.11 |
| Normal role description: | BAK1 is a pro-apoptotic protein localized to the outer membrane of mitochondria, where it can oligomerize to form pores, leading to release of cytochrome C and apoptosis. BAK1 also functions by antagonizing the anti-apoptotic action of BCL2. It has been implicated in a number of conditions such as gastric- and colorectal cancer, Sjogren's syndrome, Grave's disease and MS. However, in most cases BAK1 dysregulation is not due to mutations of BAK1 but rather dysfunction of BAK-regulators such as BCL-XL and MCL-1. |