ASPSCR1

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]

Description

alveolar soft part sarcoma chromosome region, candidate 1

Protein family

-

Chromosome

17:q25.3 (79934683 - 79975282)

Ensembl ID

ENSG00000169696  (ver. 69.37)

Orthologs

Mouse Aspscr1: ENSMUSG00000025142

Human splice variants
Mouse splice variants