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{{Infobox_gene}}
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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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{{GNF_Protein_box
| image = PBB_Protein_ASPSCR1_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2al3.
| PDB = {{PDB2|2al3}}
| Name = Alveolar soft part sarcoma chromosome region, candidate 1
| HGNCid = 13825
| Symbol = ASPSCR1
| AltSymbols =; ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9
| OMIM = 606236
| ECnumber =
| Homologene = 41550
| MGIid = 1916188
  | Function = {{GNF_GO|id=GO:0003674 |text = molecular_function}}  
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0008150 |text = biological_process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 79058
    | Hs_Ensembl =   
    | Hs_RefseqProtein = XP_001132706
    | Hs_RefseqmRNA = XM_001132706
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 
    | Hs_GenLoc_start = 
    | Hs_GenLoc_end = 
    | Hs_Uniprot = 
    | Mm_EntrezGene = 68938
    | Mm_Ensembl = ENSMUSG00000025142
    | Mm_RefseqmRNA = NM_026877
    | Mm_RefseqProtein = NP_081153
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 11
    | Mm_GenLoc_start = 120489124
    | Mm_GenLoc_end = 120525537
    | Mm_Uniprot = Q8VBT9
  }}
}}
'''Alveolar soft part sarcoma chromosome region, candidate 1''', also known as '''ASPSCR1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79058| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = This gene is a candidate gene for alveolar soft part sarcoma (ASPS). It has been found that this gene is fused with transcription factor TFE3 gene in ASPS and also in renal cell carcinomas. Several alternatively spliced transcript variants of this gene have been described, but their full length nature has not been determined.<ref name="entrez">{{cite web | title = Entrez Gene: ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=79058| accessdate = }}</ref>
| 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" />
}}
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==External links==
* {{UCSC gene info|ASPSCR1}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Joyama S, Ueda T, Shimizu K, ''et al.'' |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 |year= 1999 |pmid= 10506710 |doi=  }}
*{{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  | author=Ladanyi M, Lui MY, Antonescu CR, ''et al.'' |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 |year= 2001 |pmid= 11244503 |doi= 10.1038/sj.onc.1204074 }}
*{{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  | author=Heimann P, El Housni H, Ogur G, ''et al.'' |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=  }}
*{{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  | author=Argani P, Antonescu CR, Illei PB, ''et al.'' |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=  }}
*{{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  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{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  | author=Bogan JS, Hendon N, McKee AE, ''et al.'' |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 }}
*{{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  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |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 }}
*{{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  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
*{{cite journal  | author=Olsen JV, Blagoev B, Gnad F, ''et al.'' |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 }}
}}
}}
{{refend}}
{{refend}}
{{PDB Gallery|geneid=79058}}
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{{WikiDoc Sources}}
 
[[Category:Oncogenes]]

Latest revision as of 18:12, 15 May 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

n/a

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UniProt

n/a

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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.

External links

Further reading



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