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: | ELL |
| Gene Name: | ELL |
| Protein Full Name: | RNA polymerase II elongation factor ELL |
| Alias: | C19orf17; Eleven-nineteen lysine-rich leukemia protein; ELL gene (11-19 lysine-rich leukemia gene); ELL1; Elongation factor RNA polymerase II; Men; RNA polymerase II elo |
| Mass (Da): | 68265 |
| Number AA: | 621 |
| UniProt ID: | P55199 |
| Locus ID: | 8178 |
| COSMIC ID: | ELL |
| Gene location on chromosome: | 19p13.1 |
| 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: | 0.48 |
| Deregulated in translocations: | t(11.19)(q23;p13.1) --> MLL-ELL in acute leukemias |
| Normal role description: | ELL is an elongation factor that can increase the catalytic rate of RNA polymerase II transcription. Translocation of the gene with MLL is implicated in acute treatment-related leukemia. |