ASPSCR1

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; OMA:ASPSCR1 - orthologs
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 120,563,799 bp [2] End 120,600,273 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right lobe of liver apex of heart anterior pituitary right hemisphere of cerebellum muscle of thigh right lobe of thyroid gland left lobe of thyroid gland gastrocnemius muscle right testis gonad Top expressed in spermatid spermatocyte granulocyte right kidney seminiferous tubule lip yolk sac duodenum muscle of thigh left lobe of liver More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component extrinsic component of membrane cytoplasm perinuclear region of cytoplasm membrane cytosol cytoplasmic side of plasma membrane plasma membrane endoplasmic reticulum-Golgi intermediate compartment membrane intracellular membrane-bounded organelle endomembrane system 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: 120.56 – 120.6 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. S2CID   44905777.
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. S2CID   23287961.

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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2003Natur.425..727B. doi:10.1038/nature01989. PMID   14562105. S2CID   4417524.
• 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. S2CID   7827573.