ASPSCR1

Alveolar soft part sarcoma chromosome region, candidate 1
PDB rendering based on 2al3.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2al3​
Identifiers
Symbols	ASPSCR1 ; ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9; UBXN9
External IDs	OMIM: 606236 MGI: 1916188 HomoloGene: 41550 GeneCards: ASPSCR1 Gene
Gene ontology Molecular function • molecular_function • protein binding Cellular component • cellular_component • nucleoplasm • cytosol • plasma membrane • cytoplasmic side of plasma membrane • endomembrane system • vesicle membrane • extrinsic component of membrane • endoplasmic reticulum-Golgi intermediate compartment membrane • intracellular membrane-bounded organelle • perinuclear region of cytoplasm Biological process • intracellular protein transport • biological_process • glucose homeostasis • regulation of glucose import • membrane organization Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	79058	68938
Ensembl	ENSG00000169696	ENSMUSG00000025142
UniProt	Q9BZE9	Q8VBT9
RefSeq (mRNA)	NM_001251888	NM_001164224
RefSeq (protein)	NP_001238817	NP_001157696
Location (UCSC)	Chr 17: 81.98 – 82.02 Mb	Chr 11: 120.67 – 120.71 Mb
PubMed search

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. "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.
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.

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.