Trisha Shetty (Editor)

ASPSCR1

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Species
  
Human

Entrez
  
79058

Human
  
Mouse

Ensembl
  
ENSG00000169696

ASPSCR1

Aliases
  
ASPSCR1, ASPCR1, ASPL, ASPS, RCC17, TUG, UBXD9, UBXN9, alveolar soft part sarcoma chromosome region, candidate 1, UBX domain containing tether for SLC2A4

External IDs
  
MGI: 1916188 HomoloGene: 41550 GeneCards: ASPSCR1

Tether containing UBX domain for GLUT4 (TUG) is a protein that in humans is encoded by the ASPSCR1 gene.

This gene is a candidate gene for alveolar soft part sarcoma (ASPS). It has been found that ASPSCR1 can undergo oncogenic rearrangement with transcription factor TFE3 gene, creating an aberrant gene that is a stronger transcriptional activator than TFE3 alone. This fusion oncogene encodes for a chimeric transcription factor, which is responsible for the production of multiple molecules that contribute to ASPS and also to renal cell carcinomas. Several alternatively spliced transcript variants of this gene have been described, but their full length nature has not been determined.

References

ASPSCR1 Wikipedia