tether containing UBX domain for GLUT4 (alveolar soft part sarcoma chromosome region candidate 1, alveolar soft part sarcoma locus, renal papillary cell carcinoma protein 17, ASPSCR1, ASPL, RCC17, TUG)
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Function
- tethering protein that sequesters GLUT4-containing vesicles in cytoplasm in the absence of insulin
- modulates amount of GLUT4 available at cell surface
- interacts with GLUT4
Structure
- contains 1 UBX domain
Compartment
intracytoplasmic membrane, peripheral membrane
Alternative splicing
named isoforms=4
Expression
- ubiquitous
- highly expressed in testis, heart, skeletal muscle, pancreas.
Pathology
- chromosomal translocation t(X;17)(p11;q25) involving ASPSCR1 & TFE3 is recurrent in alveolar soft part sarcoma (ASPS) & may be a cause of papillary renal cell carcinoma (PRCC)
- translocation t(X;17)(p11;q25) with TFE3 forms a ASPSCR1-TFE3 fusion protein
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q9BZE9.html
- ↑ Atlas of Genetics and Cytogenetics in Oncology and Haematology http://atlasgeneticsoncology.org/Genes/ASPSCR1ID358.html