Aliases for ASPSCR1 Gene
- Alveolar Soft Part Sarcoma Chromosome Region, Candidate 1 2 3
- RCC17 3 4 6
- ASPL 3 4 6
- Alveolar Soft Part Sarcoma Chromosomal Region Candidate Gene 1 Protein 3 4
- Renal Papillary Cell Carcinoma Protein 17 3 4
- Alveolar Soft Part Sarcoma Locus 3 4
- UBX Domain-Containing Protein 9 3 4
- UBX Domain Protein 9 2 3
- UBXD9 3 4
External Ids for ASPSCR1 Gene
The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]
GeneCards Summary for ASPSCR1 Gene
ASPSCR1 (Alveolar Soft Part Sarcoma Chromosome Region, Candidate 1) is a Protein Coding gene. Diseases associated with ASPSCR1 include alveolar soft-part sarcoma and renal cell carcinoma. Among its related pathways are Glucose / Energy Metabolism and Clathrin derived vesicle budding.
UniProtKB/Swiss-Prot for ASPSCR1 Gene
Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface (By similarity). Enhances VCP methylation catalyzed by VCPKMT.