ASPSCR1

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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
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Tether containing UBX domain for GLUT4 (TUG) is a protein that in humans is encoded by the ASPSCR1 gene.[1][2][3]

This gene is a candidate gene for alveolar soft part sarcoma (ASPS). It has been found that ASPSCR1 can undergo oncogenic rearrangement with transcription factor TFE3 gene, creating an aberrant gene that is a stronger transcriptional activator than TFE3 alone.[4] This fusion oncogene encodes for a chimeric transcription factor, which is responsible for the production of multiple molecules that contribute to ASPS and also to renal cell carcinomas.[5] Several alternatively spliced transcript variants of this gene have been described, but their full length nature has not been determined.[3]

References

  1. Ladanyi M, Lui MY, Antonescu CR, Krause-Boehm A, Meindl A, Argani P, Healey JH, Ueda T, Yoshikawa H, Meloni-Ehrig A, Sorensen PH, Mertens F, Mandahl N, van den Berghe H, Sciot R, Dal Cin P, Bridge J (Mar 2001). "The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25". Oncogene. 20 (1): 48–57. doi:10.1038/sj.onc.1204074. PMID 11244503.
  2. Joyama S, Ueda T, Shimizu K, Kudawara I, Mano M, Funai H, Takemura K, Yoshikawa H (Oct 1999). "Chromosome rearrangement at 17q25 and xp11.2 in alveolar soft-part sarcoma: A case report and review of the literature". Cancer. 86 (7): 1246–50. doi:10.1002/(SICI)1097-0142(19991001)86:7<1246::AID-CNCR20>3.0.CO;2-4. PMID 10506710.
  3. 3.0 3.1 "Entrez Gene: ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1".
  4. Kobos R, Nagai M, Tsuda M, Merl MY, Saito T, Laé M, Mo Q, Olshen A, Lianoglou S, Leslie C, Ostrovnaya I, Antczak C, Djaballah H, Ladanyi M (Jan 2013). "Combining integrated genomics and functional genomics to dissect the biology of a cancer-associated, aberrant transcription factor, the ASPSCR1-TFE3 fusion oncoprotein". The Journal of Pathology. doi:10.1002/path.4158. PMC 4083568.
  5. Lazar AJ, Lahat G, Myers SE, Smith KD, Changye Z, Wei-Lien W, Lopez-Terrada D, Lev D (Dec 2009). "Validation of potential therapeutic targets in alveolar soft part sarcoma: an immunohistochemical study utilizing tissue microarray". Histopathology. 55 (6): 750–755. doi:10.1111/j.1365-2559.2009.03436.x.

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Further reading