基因名称(Gene Name)
ASPSCR1 ASPL RCC17 TUG UBXD9 UBXN9
免疫原
Synthesized peptide derived from human ASPC1 AA range: 327-377
特异性
This antibody detects endogenous levels of ASPC1 at Human/Mouse
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
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],
功能
disease:A chromosomal aberration involving ASPSCR1 may be a cause of papillary renal cell carcinoma (PRCC) [MIM:605074].,disease:Chromosomal aberrations involving ASPSCR1 are recurrent in alveolar soft part sarcoma (ASPS) [MIM:606243]. Translocation t(X;17)(p11;q25) with TFE3 forms a ASPSCR1-TFE3 fusion protein.,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.,similarity:Contains 1 UBX domain.,subunit:Interacts with GLUT4.,tissue specificity:Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas.,
