disease:A chromosomal aberration involving ASPSCR1 may be a cause of papillary renal cell carcinoma (PRCC) [MIM:605074].,disease:Chromosomal aberrations involving ASPSCR1 are recurrent in alveolar soft part sarcoma (ASPS) [MIM:606243]. Translocation t(X;17)(p11;q25) with TFE3 forms a ASPSCR1-TFE3 fusion protein.,function:Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface.,similarity:Contains 1 UBX domain.,subunit:Interacts with GLUT4.,tissue specificity:Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas.,
Endomembrane system ; Peripheral membrane protein . Endoplasmic reticulum-Golgi intermediate compartment membrane ; Peripheral membrane protein. Cytoplasm . Nucleus .
Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas.
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