ASPSCR1 gene

ASPSCR1, UBX domain containing tether for SLC2A4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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 (By similarity). Enhances VCP methylation catalyzed by VCPKMT.

From NCBI Gene:

  • Alveolar soft part sarcoma

From UniProt:

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.

A chromosomal aberration involving ASPSCR1 has been found in two patients with of papillary renal cell carcinoma. Translocation t(X;17)(p11.2;q25).

Cytogenetic Location: 17q25.3, which is the long (q) arm of chromosome 17 at position 25.3

Molecular Location: base pairs 81,977,550 to 82,018,929 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q25.3, which is the long (q) arm of chromosome 17 at position 25.3
  • ASPCR1
  • ASPL
  • ASPS
  • RCC17
  • TUG
  • UBXD9
  • UBXN9