Tether containing UBX domain for GLUT4 (TUG) is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...
that in humans is encoded by the ''ASPSCR1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
This gene is a candidate gene for
alveolar soft part sarcoma
Alveolar soft part sarcoma, abbreviated ASPS, is a very rare type of soft-tissue sarcoma, that grows slowly and whose cell of origin is unknown.
ASPS arises mainly in children and young adults and can migrate (metastasize) into other parts of the ...
(ASPS). It has been found that ASPSCR1 can undergo oncogenic rearrangement with transcription factor
TFE3
Transcription factor E3 is a protein that in humans is encoded by the ''TFE3'' gene.
Function
TFE3, a member of the helix-loop-helix family of transcription factors, binds to the mu-E3 motif of the immunoglobulin heavy-chain enhancer and is ex ...
gene, creating an aberrant gene that is a stronger transcriptional
activator than TFE3 alone. This fusion oncogene encodes for a chimeric
transcription factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The fu ...
, which is responsible for the production of multiple molecules that contribute to ASPS and also to
renal cell carcinoma
Renal cell carcinoma (RCC) is a kidney cancer that originates in the lining of the proximal convoluted tubule, a part of the very small tubes in the kidney that transport primary urine. RCC is the most common type of kidney cancer in adults, res ...
s.
Several alternatively spliced transcript variants of this gene have been described, but their full length nature has not been determined.
References
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{{protein-stub
Oncogenes