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ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1

Also known as: TUG; ASPL; ASPS; RCC17; UBXD9; UBXN9; ASPCR1

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. [provided by RefSeq, Oct 2011]

Associated conditions

DescriptionTests
Alveolar soft part sarcoma
MedGen: C0206657OMIM: 606243GeneReviews: Not available
not available

Genomic context

Location:
17q25.3
Sequence:
Chromosome: 17; NC_000017.11 (81977550..82017406)
Total number of exons:
17

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