ASPSCR1

Tether containing UBX domain for GLUT4 (TUG) is a protein that in humans is encoded by the ASPSCR1 gene.[5][6][7]

ASPSCR1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2AL3
Identifiers
Aliases	ASPSCR1, ASPCR1, ASPL, ASPS, RCC17, TUG, UBXD9, UBXN9, alveolar soft part sarcoma chromosome region, candidate 1, UBX domain containing tether for SLC2A4, ASPSCR1 tether for SLC2A4, UBX domain containing
External IDs	OMIM: 606236 MGI: 1916188 HomoloGene: 41550 GeneCards: ASPSCR1
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q25.3 Start 81,976,807 bp[1] End 82,017,406 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 E2 Start 120,672,973 bp[2] End 120,709,447 bp[2]
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • extrinsic component of membrane • cytoplasm • perinuclear region of cytoplasm • membrane • cytosol • cytoplasmic side of plasma membrane • cell membrane • endoplasmic reticulum-Golgi intermediate compartment membrane • intracellular membrane-bounded organelle • endomembrane system • cell nucleus • nucleoplasm • vesicle membrane Biological process • intracellular protein transport • glucose homeostasis • regulation of glucose import • positive regulation of protein modification process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	79058	68938
Ensembl	ENSG00000169696	ENSMUSG00000025142
UniProt	Q9BZE9	Q8VBT9
RefSeq (mRNA)	NM_001251888 NM_024083 NM_001330528	NM_001164224 NM_026877 NM_198223 NM_001363055 NM_001363056
RefSeq (protein)	NP_001238817 NP_001317457 NP_076988	NP_001157696 NP_081153 NP_937866 NP_001349984 NP_001349985
Location (UCSC)	Chr 17: 81.98 – 82.02 Mb	Chr 11: 120.67 – 120.71 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[8] 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.[9] Several alternatively spliced transcript variants of this gene have been described, but their full length nature has not been determined.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000169696 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000025142 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1".
8. 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. 229 (5): 743–754. doi:10.1002/path.4158. PMC 4083568. PMID 23288701.
9. 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. PMID 20002771.

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.