Mouse

IgG1

4E20-2E22

Human

ASPSCR1 (AAH18722,2a.a. ~ 553 a.a) full-length recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.

Unconjugated

ASPSCR1; alveolar soft part sarcoma chromosome region, candidate 1; tether containing UBX domain for GLUT4; ASPL; ASPS; UBX domain protein 9

ASPSCR1 (Alveolar Soft Part Sarcoma Chromosome Region, Candidate 1) is a Protein Coding gene. Diseases associated with ASPSCR1 include alveolar soft-part sarcoma and advanced sleep-phase syndrome, familial, 2. Among its related pathways are Transcriptional misregulation in cancer and Vesicle-mediated transport. An important paralog of this gene is UBXN6. 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.

Note=A chromosomal aberration involving ASPSCR1 has been found in two patients with of papillary renal cell carcinoma. Translocation t(X;17)(p11. 2;q25). Note=A chromosomal aberration involving ASPSCR1 is found in patients with alveolar soft part sarcoma. Translocation t(X;17)(p11;q25) with TFE3 forms a ASPSCR1-TFE3 fusion protein. Tether containing UBX domain for GLUT4 (TUG) is a protein that in humans is encoded by the ASPSCR1 gene. 0The function about ASPSCR1 antigen include molecular_function; protein binding.

Transcriptional misregulation in cancer, organism-specific biosystem; Transcriptional misregulation in cancer, conserved biosystem.