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{{ | '''Tether containing UBX domain for GLUT4''' ('''TUG''') is a [[protein]] that in humans is encoded by the ''ASPSCR1'' [[gene]].<ref name="pmid11244503">{{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 }}</ref><ref name="pmid10506710">{{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 }}</ref><ref name="entrez">{{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 = }}</ref> | ||
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| section_title = | | section_title = | ||
| summary_text = This gene is a candidate gene for alveolar soft part sarcoma (ASPS). It has been found that | | summary_text = 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 (genetics)|activator]] than TFE3 alone.<ref>{{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 |date=Jan 2013 | doi = 10.1002/path.4158 | pmc = 4083568 }}</ref> 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 carcinoma]]s.<ref>{{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 }}</ref> Several alternatively spliced transcript variants of this gene have been described, but their full length nature has not been determined.<ref name="entrez" /> | ||
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==References== | ==References== | ||
{{reflist| | {{reflist}} | ||
==External links== | |||
* {{UCSC gene info|ASPSCR1}} | |||
==Further reading== | ==Further reading== | ||
{{refbegin | 2}} | {{refbegin | 2}} | ||
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*{{cite journal | | *{{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 | | *{{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 | | *{{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 | | *{{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 | | *{{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}} | ||
*{{cite journal | | |||
*{{cite journal | | |||
}} | }} | ||
{{refend}} | {{refend}} | ||
{{PDB Gallery|geneid=79058}} | |||
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[[Category:Oncogenes]] |
Latest revision as of 18:12, 15 May 2018
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Species | Human | Mouse | |||||
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Location (UCSC) | n/a | n/a | |||||
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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
- ↑ 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.
- ↑ 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.
- ↑ 3.0 3.1 "Entrez Gene: ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1".
- ↑ 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.
- ↑ 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.
External links
- Human ASPSCR1 genome location and ASPSCR1 gene details page in the UCSC Genome Browser.
Further reading
- Heimann P, El Housni H, Ogur G, et al. (2001). "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. PMID 11358836.
- Argani P, Antonescu CR, Illei PB, et al. (2001). "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. doi:10.1016/S0002-9440(10)61684-7. PMC 1850400. PMID 11438465.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Bogan JS, Hendon N, McKee AE, et al. (2003). "Functional cloning of TUG as a regulator of GLUT4 glucose transporter trafficking". Nature. 425 (6959): 727–33. doi:10.1038/nature01989. PMID 14562105.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
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