ASPSCR1 Summary

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]

ASPSCR1 Details

Gene Symbol : ASPSCR1

Gene Name : ASPSCR1, UBX domain containing tether for SLC2A4

Chromosome : CHR 17: 819,775,49-820,189,28

Locus : 17q25.3

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TTYH3 Summary

This gene encodes a member of the tweety family of proteins. Members of this family function as chloride anion channels. The encoded protein functions as a calcium(2+)-activated large conductance chloride(-) channel. [provided by RefSeq, Jul 2008]

TTYH3 Details

Gene Symbol : TTYH3

Gene Name : Tweety family member 3

Chromosome : CHR 7: 263,196,8-266,480,1

Locus : 7p22.3

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