ASPSCR1
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 (By similarity). Enhances VCP methylation catalyzed by VCPKMT.
Involvement in disease
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).
Tissue Specificity
Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas.
Cellular localization
- Endomembrane system
- Peripheral membrane protein
- Endoplasmic reticulum-Golgi intermediate compartment membrane
- Peripheral membrane protein
- Cytoplasm
- Nucleus
Alternative names
ASPL, RCC17, TUG, UBXD9, UBXN9, ASPSCR1, Tether containing UBX domain for GLUT4, Alveolar soft part sarcoma chromosomal region candidate gene 1 protein, Alveolar soft part sarcoma locus, Renal papillary cell carcinoma protein 17, UBX domain-containing protein 9