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: | ETV1 |
| Gene Name: | ETV1 |
| Protein Full Name: | ETS translocation variant 1 |
| Alias: | ER81; Ets variant 1; Ets variant gene 1; Protein ER81 |
| Mass (Da): | 55131 |
| Number AA: | 477 |
| UniProt ID: | P50549 |
| Locus ID: | 2115 |
| COSMIC ID: | ETV1 |
| Gene location on chromosome: | 7p21.3 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20391 |
| Percent of cancer specimens with mutations: | 0.68 |
| Deregulated in translocations: | ETV1 is involved in fusions with KLK2, EWSR1, SLC45A3, TMPRSS2, HNRNPA2B1, and ACSL3 in Ewing's sarcoma and prostate cancer |
| Normal role description: | ETV1 regulates many targets responsible for processed such as cell growth, migration, proliferation, differentiation and angiogenesis. It is involved in chromosomal translocations, which result in multiple fusion proteins, including EWS-ETV1 in Erwing's sarcoma, and several others in prostate cancer. The gene is also overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumours. |
| Commentary on involvement of protein in cancer: | ETV1 is fused with EWSR1 (translocation t(7;22)(p22;q12)) in 6% (4/65) of Ewing's sarcoma samples (bone & soft tissue). 2% of CNS-, 1% of lung cancer-, and 2% of ovarian cancer samples were also mutated (Sanger COSMIC). |