Gene: LOC105371939

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: ASPSCR1

Alternate names for this Gene: ASPCR1|ASPL|ASPS|RCC17|TUG|UBXD9|UBXN9

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.3

Description of this Gene: ASPSCR1 tether for SLC2A4, UBX domain containing

Type of Gene: protein-coding

rs35344256 in LOC105371939;ASPSCR1 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.