ASPSCR1

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]

Description

ASPSCR1 tether for SLC2A4, UBX domain containing

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Vesicles, Plasma membrane

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

17 (81976807 - 82017406)

Ensembl ID

ENSG00000169696  (ver. 103.38)

Orthologs

Mouse Aspscr1: ENSMUSG00000025142

UniProt

Q9BZE9

neXtProt

NX_Q9BZE9

Human splice variants
Mouse splice variants

Protein structure