Ewing sarcoma breakpoint region 1

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Ewing sarcoma breakpoint region 1
PDB rendering based on 2cpe.
Available structures
PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
Identifiers
Symbols EWSR1 ; EWS
External IDs Template:OMIM5 Template:MGI HomoloGene22438
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Ewing sarcoma breakpoint region 1, also known as EWSR1, is a human gene.[1]

This gene encodes a putative RNA binding protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma and other members of the Ewing family of tumors. Alternative splicing of this gene results in two products.[1]

References

  1. 1.0 1.1 "Entrez Gene: EWSR1 Ewing sarcoma breakpoint region 1".

Further reading

  • Ban J, Siligan C, Kreppel M; et al. (2007). "EWS-FLI1 in Ewing's sarcoma: real targets and collateral damage". Adv. Exp. Med. Biol. 587: 41–52. PMID 17163154.
  • Meister HP (1976). "[Morphological findings of chronic constipation in childhood]". Monatsschrift für Kinderheilkunde. 124 (5): 354–6. PMID 934118.
  • Guthrie GM, Verstraete A, Deines MM, Stern RM (1975). "Symptoms of stress in four societies". The Journal of social psychology. 95 (Second half): 165–72. PMID 1127890.
  • Delattre O, Zucman J, Plougastel B; et al. (1992). "Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours". Nature. 359 (6391): 162–5. doi:10.1038/359162a0. PMID 1522903.
  • Bhagirath T, Abe S, Nojima T, Yoshida MC (1995). "Molecular analysis of a t(11;22) translocation junction in a case of Ewing's sarcoma". Genes Chromosomes Cancer. 13 (2): 126–32. PMID 7542907.
  • Ohno T, Ouchida M, Lee L; et al. (1994). "The EWS gene, involved in Ewing family of tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors, codes for an RNA binding protein with novel regulatory domains". Oncogene. 9 (10): 3087–97. PMID 8084618.
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
  • Plougastel B, Zucman J, Peter M; et al. (1994). "Genomic structure of the EWS gene and its relationship to EWSR1, a site of tumor-associated chromosome translocation". Genomics. 18 (3): 609–15. PMID 8307570.
  • Zucman J, Delattre O, Desmaze C; et al. (1993). "EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts". Nat. Genet. 4 (4): 341–5. doi:10.1038/ng0893-341. PMID 8401579.
  • Brodie SG, Stocker SJ, Wardlaw JC; et al. (1996). "EWS and WT-1 gene fusion in desmoplastic small round cell tumor of the abdomen". Hum. Pathol. 26 (12): 1370–4. PMID 8522311.
  • Fujimura Y, Ohno T, Siddique H; et al. (1996). "The EWS-ATF-1 gene involved in malignant melanoma of soft parts with t(12;22) chromosome translocation, encodes a constitutive transcriptional activator". Oncogene. 12 (1): 159–67. PMID 8552387.
  • Clark J, Benjamin H, Gill S; et al. (1996). "Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma". Oncogene. 12 (2): 229–35. PMID 8570200.
  • Magnaghi-Jaulin L, Masutani H, Robin P; et al. (1996). "SRE elements are binding sites for the fusion protein EWS-FLI-1". Nucleic Acids Res. 24 (6): 1052–8. PMID 8604338.
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. PMID 8889548.
  • Aman P, Panagopoulos I, Lassen C; et al. (1997). "Expression patterns of the human sarcoma-associated genes FUS and EWS and the genomic structure of FUS". Genomics. 37 (1): 1–8. doi:10.1006/geno.1996.0513. PMID 8921363.
  • Morohoshi F, Arai K, Takahashi EI; et al. (1997). "Cloning and mapping of a human RBP56 gene encoding a putative RNA binding protein similar to FUS/TLS and EWS proteins". Genomics. 38 (1): 51–7. doi:10.1006/geno.1996.0591. PMID 8954779.
  • Zucman-Rossi J, Legoix P, Thomas G (1997). "Identification of new members of the Gas2 and Ras families in the 22q12 chromosome region". Genomics. 38 (3): 247–54. doi:10.1006/geno.1996.0625. PMID 8975699.
  • Guinamard R, Fougereau M, Seckinger P (1997). "The SH3 domain of Bruton's tyrosine kinase interacts with Vav, Sam68 and EWS". Scand. J. Immunol. 45 (6): 587–95. PMID 9201297.
  • Deloulme JC, Prichard L, Delattre O, Storm DR (1997). "The prooncoprotein EWS binds calmodulin and is phosphorylated by protein kinase C through an IQ domain". J. Biol. Chem. 272 (43): 27369–77. PMID 9341188.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.