Alveolar Soft Part Sarcoma Chromosome Region, Candidate 1

Alternative Names

  • ASPSCR1
  • Alveolar Soft Part Sarcoma Locus
  • ASPL
  • Tether Containing UBX Domain For GLUT4
  • TUG
  • ASPSCR1/TFE3 Fusion Gene

Associated Diseases

Alveolar Soft Part Sarcoma
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OMIM Number

606236

NCBI Gene ID

79058

Uniprot ID

Q9BZE9

Length

40,757 bases

No. of Exons

19

No. of isoforms

4

Protein Name

Tether Containing UBX Domain for GLUT4

Molecular Mass

60183 Da

Amino Acid Count

553

Genomic Location

chr17:81,977,549-82,017,668

Gene Map Locus
17q25.3

Description

The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4. This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin... [From RefSeq]

Epidemiology in the Arab World

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Other Reports

Lebanon

Jabbour et al, 2014, described a 24-year-old woman with vulvovaginal alveolar soft part sarcoma. Tests on the tumor cells confirmed the expression of TFE3 protein as well as the presence of the ASPL-TFE3 gene rearrangement.   

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