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: | WT1 |
| Gene Name: | WT1 |
| Protein Full Name: | Wilms tumor protein |
| Alias: | WT33 |
| Mass (Da): | 49188 |
| Number AA: | 449 |
| UniProt ID: | P19544; A8MN20 |
| Locus ID: | 7490 |
| COSMIC ID: | WT1 |
| Gene location on chromosome: | 11p13 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 28473 |
| Percent of cancer specimens with mutations: | 2.52 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with point mutations, complex mutations, insertions and deletions over entire protein length. There are two main clusters with point, complex, deletion and insertion mutants between AA 299-315 and point muations aroun |
| Deregulated in translocations: | translocations, t(11;22)(p13;q12)---> EWS-WT1 fusion protein, causes desmoplastic small round cell tumor (DSRCT) |
| Normal role description: | WT1 is a transcription factor that contains four zinc finger motifs. It plays a critical role in urogenital system development. Mutation in this gene have been observed in blood, kidney, and mouth tumors. A translocation of this gene results in the EWS-WT1 fusion protein, which is associated with desmoplastic small round cell tumour (DSRCT). |