Biology:ASPSCR1
 Generic protein structure example |
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
- ↑ "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. Mar 2001. doi:10.1038/sj.onc.1204074. PMID 11244503.
- ↑ "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. Oct 1999. doi:10.1002/(SICI)1097-0142(19991001)86:7<1246::AID-CNCR20>3.0.CO;2-4. PMID 10506710.
- ↑ 3.0 3.1 "Entrez Gene: ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79058.
- ↑ "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 229 (5): 743–754. Jan 2013. doi:10.1002/path.4158. PMID 23288701.
- ↑ "Validation of potential therapeutic targets in alveolar soft part sarcoma: an immunohistochemical study utilizing tissue microarray". Histopathology 55 (6): 750–755. Dec 2009. doi:10.1111/j.1365-2559.2009.03436.x. PMID 20002771.
External links
- Human ASPSCR1 genome location and ASPSCR1 gene details page in the UCSC Genome Browser.
Further reading
- "Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas.". Cancer Res. 61 (10): 4130–5. 2001. PMID 11358836.
- "Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents.". Am. J. Pathol. 159 (1): 179–92. 2001. doi:10.1016/S0002-9440(10)61684-7. PMID 11438465.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Functional cloning of TUG as a regulator of GLUT4 glucose transporter trafficking.". Nature 425 (6959): 727–33. 2003. doi:10.1038/nature01989. PMID 14562105. Bibcode: 2003Natur.425..727B.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.". Cell 127 (3): 635–48. 2006. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
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