Alveolar Soft Part Sarcoma Chromosome Region (ASPSCR1) Human Recombinant Protein

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]

ASPSCR1: 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. Interacts with GLUT4. Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, peripheral; Vesicle; Oncoprotein

Chromosomal Location of Human Ortholog: 17q25.3

Cellular Component: nucleoplasm; internal side of plasma membrane; ER-Golgi intermediate compartment membrane; extrinsic to membrane; intracellular membrane-bound organelle; perinuclear region of cytoplasm; plasma membrane; endomembrane system; vesicle membrane; cytosol

Molecular Function: protein binding

Biological Process: intracellular protein transport; regulation of glucose import; glucose homeostasis

Disease: Alveolar Soft Part Sarcoma