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: | SET |
| Gene Name: | SET |
| Protein Full Name: | Protein SET |
| Alias: | IGAAD; PHAPII; Phosphatase 2A inhibitor I2PP2A; TAF-I; TAF-I beta |
| Mass (Da): | 33489 |
| Number AA: | 290 |
| UniProt ID: | Q01105; B2REB7; B2REB8; Q5VXV2; Q5VXV3 |
| Locus ID: | 6418 |
| COSMIC ID: | SET |
| Gene location on chromosome: | 9q34 |
| 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: | 0.15 |
| Deregulated in translocations: | Translocation t(9;9)(q34;q34) --> SET-NUP214 (alias CAN) fusion protein. |
| Normal role description: | SET plays many roles, including: involvement in apoptosis, transcription, nucleosome assembly and histone binding. Is an inhibitor of nucleosome acetylation, especially those acetyl groups added to histone H4 by histone acetylases (HAT). Translocation of this gene have resulted in a fusion protein (SET-NUP214 ) formed by rearrangement of chromosome 9. This translocation has resulted in acute undifferentiated leukemia (AUL); however, in only one case has this been observed. |