Ewing sarcoma breakpoint region 1

From Wikipedia, the free encyclopedia
  (Redirected from EWSR1)
Jump to: navigation, search
EWS RNA-binding protein 1
Protein EWSR1 PDB 2cpe.png
PDB rendering based on 2cpe.
Available structures
PDB Ortholog search: PDBe, RCSB
Symbols EWSR1 ; EWS; bK984G1.4
External IDs OMIM133450 MGI99960 HomoloGene136069 GeneCards: EWSR1 Gene
RNA expression pattern
PBB GE EWSR1 210012 s at tn.png
More reference expression data
Species Human Mouse
Entrez 2130 14030
Ensembl ENSG00000182944 ENSMUSG00000009079
UniProt Q01844 Q61545
RefSeq (mRNA) NM_001163285 NM_007968
RefSeq (protein) NP_001156757 NP_031994
Location (UCSC) Chr 22:
29.66 – 29.7 Mb
Chr 11:
5.07 – 5.1 Mb
PubMed search [1] [2]

RNA-binding protein EWS is a protein that in humans is encoded by the EWSR1 gene on human chromosome 22.[1][2]

This gene encodes a putative RNA binding protein. Alternative splicing of this gene results in two products.[2]

Clinical relevance[edit]

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. Other mutations have also been associated to amyotrophic lateral sclerosis.[3]


Ewing sarcoma breakpoint region 1 has been shown to interact with POU4F1,[4] SF1,[5] BARD1,[6] Small nuclear ribonucleoprotein polypeptide C,[7] PTK2B[8] and Zinc finger protein 165.[9]ERG,[10] ATF-1,[11]


  1. ^ Delattre O, Zucman J, Plougastel B, Desmaze C, Melot T, Peter M, Kovar H, Joubert I, de Jong P (October 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. 
  2. ^ a b "Entrez Gene: EWSR1 Ewing sarcoma breakpoint region 1". 
  3. ^ Couthouis, J.; Hart, M. P.; Erion, R.; King, O. D.; Diaz, Z.; Nakaya, T.; Ibrahim, F.; Kim, H.-J.; Mojsilovic-Petrovic, J.; Panossian, S.; Kim, C. E.; Frackelton, E. C.; Solski, J. A.; Williams, K. L.; Clay-Falcone, D.; Elman, L.; McCluskey, L.; Greene, R.; Hakonarson, H.; Kalb, R. G.; Lee, V. M. Y.; Trojanowski, J. Q.; Nicholson, G. A.; Blair, I. P.; Bonini, N. M.; Van Deerlin, V. M.; Mourelatos, Z.; Shorter, J.; Gitler, A. D. (27 March 2012). "Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis". Human Molecular Genetics. doi:10.1093/hmg/dds116. 
  4. ^ Thomas, G Ruth; Latchman David S (2002). "The pro-oncoprotein EWS (Ewing's Sarcoma protein) interacts with the Brn-3a POU transcription factor and inhibits its ability to activate transcription". Cancer Biol. Ther. (United States) 1 (4): 428–32. ISSN 1538-4047. PMID 12432261. 
  5. ^ Zhang, D; Paley A J; Childs G (July 1998). "The transcriptional repressor ZFM1 interacts with and modulates the ability of EWS to activate transcription". J. Biol. Chem. (UNITED STATES) 273 (29): 18086–91. doi:10.1074/jbc.273.29.18086. ISSN 0021-9258. PMID 9660765. 
  6. ^ Spahn, Laura; Petermann Robert; Siligan Christine; Schmid Johannes A; Aryee Dave N T; Kovar Heinrich (August 2002). "Interaction of the EWS NH2 terminus with BARD1 links the Ewing's sarcoma gene to a common tumor suppressor pathway". Cancer Res. (United States) 62 (16): 4583–7. ISSN 0008-5472. PMID 12183411. 
  7. ^ Knoop, L L; Baker S J (August 2000). "The splicing factor U1C represses EWS/FLI-mediated transactivation". J. Biol. Chem. (UNITED STATES) 275 (32): 24865–71. doi:10.1074/jbc.M001661200. ISSN 0021-9258. PMID 10827180. 
  8. ^ Felsch, J S; Lane W S; Peralta E G (May 1999). "Tyrosine kinase Pyk2 mediates G-protein-coupled receptor regulation of the Ewing sarcoma RNA-binding protein EWS". Curr. Biol. (ENGLAND) 9 (9): 485–8. doi:10.1016/S0960-9822(99)80214-0. ISSN 0960-9822. PMID 10322114. 
  9. ^ Rual, Jean-François; Venkatesan Kavitha, Hao Tong, Hirozane-Kishikawa Tomoko, Dricot Amélie, Li Ning, Berriz Gabriel F, Gibbons Francis D, Dreze Matija, Ayivi-Guedehoussou Nono, Klitgord Niels, Simon Christophe, Boxem Mike, Milstein Stuart, Rosenberg Jennifer, Goldberg Debra S, Zhang Lan V, Wong Sharyl L, Franklin Giovanni, Li Siming, Albala Joanna S, Lim Janghoo, Fraughton Carlene, Llamosas Estelle, Cevik Sebiha, Bex Camille, Lamesch Philippe, Sikorski Robert S, Vandenhaute Jean, Zoghbi Huda Y, Smolyar Alex, Bosak Stephanie, Sequerra Reynaldo, Doucette-Stamm Lynn, Cusick Michael E, Hill David E, Roth Frederick P, Vidal Marc (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature (England) 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514. 
  10. ^ Ohno T, Ouchida M, Lee L, Gatalica Z, Rao, VN and Reddy, ES (Oct 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. 
  11. ^ Fujimura Y, Ohno T, Siddique H, Lee L, Rao VN, Reddy ES (January 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. 

Further reading[edit]

  • Ohno T, Rao VN, Reddy ES (December 1993). "EWS/Fli-1 chimeric protein is a transcriptional activator". Cancer Res. 53 (24): 5859–63. PMID 7503813. 
  • Ouchida M, Ohno T, Fujimura Y, Rao VN, Reddy ES (September 1995). "Loss of tumorigenicity of Ewing's sarcoma cells expressing antisense RNA to EWS-fusion transcripts". Oncogene 11 (6): 1049–54. PMID 7566963. 
  • 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. doi:10.1007/978-1-4020-5133-3_4. 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. doi:10.1080/00224545.1975.9918699. PMID 1127890. 
  • 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. doi:10.1002/gcc.2870130209. 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. doi:10.1016/0378-1119(94)90802-8. 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. doi:10.1016/S0888-7543(05)80363-5. 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. doi:10.1016/0046-8177(95)90303-8. 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. doi:10.1093/nar/24.6.1052. PMC 145748. PMID 8604338. 
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. 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. doi:10.1046/j.1365-3083.1997.d01-447.x. 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. doi:10.1074/jbc.272.43.27369. 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. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149. 

External links[edit]