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Gene : ASPSCR1 Homo sapiens

Name  ? ASPSCR1 tether for SLC2A4, UBX domain containing Cytological Location  17q25.3
Brief Description  ASPSCR1 tether for SLC2A4, UBX domain containing
Description  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]
  • synonyms:
  • ASPSCR1, UBX domain containing tether for SLC2A4,
  • HGNC:13825,
  • RCC17,
  • UBXD9,
  • ASPL,
  • NM_024083,
  • OTTHUMG00000178438,
  • ASPL,
  • TUG,
  • ASPSCR1,
  • ASPCR1,
  • Tether containing UBX domain for GLUT4,
  • ASPS,
  • UBX domain protein 9,
  • UBXN9,
  • UBXN9,
  • uc002kcx.3,
  • ASPS,
  • UBXD9,
  • TUG,
  • alveolar soft part sarcoma chromosome region, candidate 1,
  • AF324219
  • identifiers:
  • 79058,
  • ENSG00000169696,

Genome feature

Region: gene ? Length: 40120  
Location: 17:81977550-82017669 Cyto location: 17q25.3

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1 Diseases

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860 SNPs

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results