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: | BRAF |
| Gene Name: | BRAF |
| Protein Full Name: | Serine/threonine-protein kinase B-raf |
| Alias: | B-RAF; B-RAF proto-oncogene serine/threonine-protein kinase; BRAF1; C-RMIL; Kinase B-Raf; P94; RAFB1; RMIL; RMIL serine/threonine-protein kinase; V-raf murine sarcoma viral oncogene B1; V-Raf murine sarcoma viral oncogene homolog B1 |
| Mass (Da): | 84437 |
| Number AA: | 766 |
| UniProt ID: | P15056 |
| Locus ID: | 673 |
| COSMIC ID: | BRAF |
| Gene location on chromosome: | 7q34 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 99864 |
| Percent of cancer specimens with mutations: | 19.744089912 |
| General distribution of mutations: | Narrow |
| Location of most mutations: | One main region at AA 600, which includes point mutations, complex mutation , insertions and deletions. |
| Commonly recorded point mutations: | V600E (18,779); V600K (216) |
| Deregulated in translocations: | Stomach tumors. Fusion partners AGTRAP; skin tumors-fusion partner FCHSD; Prostate-fusion partner SLC45A3; Central nervous system-fusion partner-KIAA1549; Thyroid-fusion partner AKAP9 ENST00000356239 |
| Normal role description: | BRAF is a protein-serine/threonine kinase. |
| Commentary on involvement of protein in cancer: | V600E in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis. V600 is located in the kinase catalytic domain in the activation loop between subdomains VII and VIII. |