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: | EPS15 |
| Gene Name: | EPS15 |
| Protein Full Name: | Epidermal growth factor receptor substrate 15 |
| Alias: | AF1P; AF-1p protein; EP15; Epidermal growth factor receptor pathway substrate 15 (AF1p) |
| Mass (Da): | 98656 |
| Number AA: | 896 |
| UniProt ID: | P42566 |
| Locus ID: | 2060 |
| COSMIC ID: | EPS15 |
| Gene location on chromosome: | 1p32 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20237 |
| Percent of cancer specimens with mutations: | 0.57 |
| Deregulated in translocations: | t(1;11)(p32;q23)/ANLLL --> MLL - AF1p fusion in acute myelogeneous leukemias |
| Normal role description: | EPS15 is involved in cell growth regulation and may be involved in regulation of mitogenic signals and cell proliferation. It plays a part in the internalization of RTK's such as EGFR, and in clathrin-coated pit assembly. Translocation of the gene with MLL/HRX is found in acute leukemias. |