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: | ASPSCR1 |
| Gene Name: | ASPSCR1 |
| Protein Full Name: | Tether containing UBX domain for GLUT4 |
| Alias: | Alveolar soft part sarcoma chromosome region, candidate 1; Alveolar soft part sarcoma locus; ASPL; ASPS; RCC17; Renal papillary cell carcinoma protein 17; Tether containing UBX domain for GLUT4; TUG; UBX domain protein 9; UBXD9; UBXN9 |
| Mass (Da): | 60183 |
| Number AA: | 553 |
| UniProt ID: | Q9BZE9 |
| Locus ID: | 79058 |
| COSMIC ID: | ASPSCR1 |
| Gene location on chromosome: | 17q25 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20578 |
| Percent of cancer specimens with mutations: | 0.02 |
| Deregulated in translocations: | Translocation t(X;17)(p11;q25) of this gene with TFE3 (a transcription factor gene) results in a ASPSCR1-TFE3 fusion protein found in alveolar soft part sarcoma and in renal cell carcinomas. The N-terminal of ASPSCR1 fuses to the C-terminal of TFE3, creat |
| Normal role description: | ASPSCR1 is a tethered protein that sequesters Glucose Transporter Type 4 (GLUT4)-vesicles in muscle and fat cells in the absence of insulin, and redistributes GLUT4 to the plasma membrane upon stimulation by insulin. A fusion of the gene with TFE3 has been implicated in cancer. |
| Commentary on involvement of protein in cancer: | 58% (60/103) of alveolar soft part sarcoma samples from various body locations (legs, arms, axilla, hands, breast, buttocks etc etc.) were also positive for ASPSCR1-TFE3 Fusion (from Sanger COSMIC). |