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: | EWSR1 |
| Gene Name: | EWSR1 |
| Protein Full Name: | Ewing sarcoma breakpoint region 1, isoform CRA_h |
| Alias: | RNA-binding protein EWS |
| Mass (Da): | 68948 |
| Number AA: | 661 |
| UniProt ID: | Q01844 |
| Locus ID: | 2130 |
| COSMIC ID: | EWSR1 |
| Gene location on chromosome: | 22q12.2 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 23541 |
| Percent of cancer specimens with mutations: | 0.46 |
| Deregulated in translocations: | t(11;22)(q24;q12), yielding the fusion protein: FLI1 - EWSR1, is known to cause Ewing sarcoma as well as neuroectodermal and various other tumors; other translocations that are assocaited with Ewing's sarcoma include: t(2;22)(q36;q12) --> FEV - EWSR1, t(7 |
| Normal role description: | EWSR1 is a multifuctional protein that plays a role in gene expression, cell signalling, RNA proccessing and transport. Translocations between this gene and transcription factors are common in a variety of tumour types. The fusion products of these events are thought to disrupt gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. |