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词条 ASPSCR1
释义

  1. References

  2. External links

  3. Further reading

{{Infobox_gene}}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. ^{{cite journal | vauthors = 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 | title = 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 | journal = Oncogene | volume = 20 | issue = 1 | pages = 48–57 |date=Mar 2001 | pmid = 11244503 | pmc = | doi = 10.1038/sj.onc.1204074 }}
2. ^{{cite journal | vauthors = Joyama S, Ueda T, Shimizu K, Kudawara I, Mano M, Funai H, Takemura K, Yoshikawa H | title = Chromosome rearrangement at 17q25 and xp11.2 in alveolar soft-part sarcoma: A case report and review of the literature | journal = Cancer | volume = 86 | issue = 7 | pages = 1246–50 |date=Oct 1999 | pmid = 10506710 | pmc = | doi =10.1002/(SICI)1097-0142(19991001)86:7<1246::AID-CNCR20>3.0.CO;2-4 }}
3. ^1 {{cite web | title = Entrez Gene: ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79058| accessdate = }}
4. ^{{cite journal | vauthors = 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 | title = Combining integrated genomics and functional genomics to dissect the biology of a cancer-associated, aberrant transcription factor, the ASPSCR1-TFE3 fusion oncoprotein | journal = The Journal of Pathology | volume = 229 | issue = 5 | pages = 743–754 |date=Jan 2013 | doi = 10.1002/path.4158 | pmid = 23288701 | pmc = 4083568 }}
5. ^{{cite journal | vauthors = Lazar AJ, Lahat G, Myers SE, Smith KD, Changye Z, Wei-Lien W, Lopez-Terrada D, Lev D | title = Validation of potential therapeutic targets in alveolar soft part sarcoma: an immunohistochemical study utilizing tissue microarray | journal = Histopathology | volume = 55 | issue = 6 | pages = 750–755 |date=Dec 2009 | doi = 10.1111/j.1365-2559.2009.03436.x | pmid = 20002771 }}

External links

  • {{UCSC gene info|ASPSCR1}}

Further reading

{{refbegin | 2}}
  • {{cite journal | vauthors=Heimann P, El Housni H, Ogur G |title=Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas. |journal=Cancer Res. |volume=61 |issue= 10 |pages= 4130–5 |year= 2001 |pmid= 11358836 |doi= |display-authors=etal}}
  • {{cite journal | vauthors=Argani P, Antonescu CR, Illei PB |title=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. |journal=Am. J. Pathol. |volume=159 |issue= 1 |pages= 179–92 |year= 2001 |pmid= 11438465 |doi= 10.1016/S0002-9440(10)61684-7| pmc=1850400 |display-authors=etal}}
  • {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}}
  • {{cite journal | vauthors=Bogan JS, Hendon N, McKee AE |title=Functional cloning of TUG as a regulator of GLUT4 glucose transporter trafficking. |journal=Nature |volume=425 |issue= 6959 |pages= 727–33 |year= 2003 |pmid= 14562105 |doi= 10.1038/nature01989 |display-authors=etal}}
  • {{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal}}
  • {{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
  • {{cite journal | vauthors=Olsen JV, Blagoev B, Gnad F |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026 |display-authors=etal}}
{{refend}}{{PDB Gallery|geneid=79058}}{{protein-stub}}

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