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: | TFEB |
| Gene Name: | TFEB |
| Protein Full Name: | Transcription factor EB |
| Alias: | AlphaTFEB; TCFEB |
| Mass (Da): | 52865 |
| Number AA: | 476 |
| UniProt ID: | P1948 |
| Locus ID: | 7942 |
| COSMIC ID: | TFEB |
| Gene location on chromosome: | 6p21 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 20237 |
| Percent of cancer specimens with mutations: | 0.35 |
| Deregulated in translocations: | t(6;11)(p21;q13) -> Alpha/TFEB gene fusion; note this does not results in a fusion protein as the Alpha gene is a non-protein-encoding transcript. |
| Normal role description: | TFEB is a transcription factor that specifically recognizes E-box sequences (3'-CANNTG-5'). TFEB plays a central role in regulating the expression of lysosomal genes. Tranlocation of this gene has results in Alpha/TFEB gene fusion, though this does not results in a fusion protein as the Alpha gene is a non-protein-encoding transcript. Additionally, this translocation is associated with renal cell carcinomas; however, the prognosis when such a mutation is present is good. |