Alveolar soft part sarcoma chromosome region, candidate 1

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Alveolar soft part sarcoma chromosome region, candidate 1

What is the normal function of the ASPSCR1 gene?


From NCBI GeneThis link leads to a site outside Genetics Home Reference.:
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]



http://ghr.nlm.nih.gov/gene=ASPSCR1


Gene definition and history

7 Genetics Department, Yale University, New Haven, Connecticut 06511, USA;
8 Molecular, Cellular, & Developmental Biology Department, Yale University, New Haven, Connecticut 06511, USA

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Abstract

While sequencing of the human genome surprised us with how many protein-coding genes there are, it did not fundamentally change our perspective on what a gene is. In contrast, the complex patterns of dispersed regulation and pervasive transcription uncovered by the ENCODE project, together with non-genic conservation and the abundance of noncoding RNA genes, have challenged the notion of the gene. To illustrate this, we review the evolution of operational definitions of a gene over the past century—from the abstract elements of heredity of Mendel and Morgan to the present-day ORFs enumerated in the sequence databanks. We then summarize the current ENCODE findings and provide a computational metaphor for the complexity. Finally, we propose a tentative update to the definition of a gene: A gene is a union of genomic sequences encoding a coherent set of potentially overlapping functional products. Our definition sidesteps the complexities of regulation and transcription by removing the former altogether from the definition and arguing that final, functional gene products (rather than intermediate transcripts) should be used to group together entities associated with a single gene. It also manifests how integral the concept of biological function is in defining genes.


http://genome.cshlp.org/content/17/6/669.full

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Thomas
Thanks for the acknowledgement
I really like your signature

Debbie