功能: 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.,
功能: 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.,