ASPSCR1

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Alveolar soft part sarcoma chromosome region, candidate 1
PDB rendering based on 2al3.
Available structures: 2al3
Identifiers
Symbol(s) ASPSCR1; ASPCR1; ASPL; ASPS; RCC17; TUG; UBXD9
External IDs OMIM: 606236 MGI: 1916188 HomoloGene: 41550
Orthologs
Human Mouse
Entrez 79058 68938
Ensembl n/a ENSMUSG00000025142
Uniprot n/a Q8VBT9
Refseq XM_001132706 (mRNA)
XP_001132706 (protein)		 NM_026877 (mRNA)
NP_081153 (protein)
Location n/a Chr 11: 120.49 - 120.53 Mb
Pubmed search [1] [2]

Alveolar soft part sarcoma chromosome region, candidate 1, also known as ASPSCR1, is a human gene.[1]

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.[1]

[edit] References

  1. ^ a b Entrez Gene: ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1.

[edit] Further reading

  • Joyama S, Ueda T, Shimizu K, et al. (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. PMID 10506710. 
  • Ladanyi M, Lui MY, Antonescu CR, et al. (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. 
  • 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. 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. 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. 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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