Ewing sarcoma breakpoint region 1

From Wikipedia, the free encyclopedia

PDB rendering based on 2cpe.

Available structures: 2cpe

Identifiers

Symbol(s)

EWSR1; EWS

External IDs

OMIM: 133450 MGI: 99960 HomoloGene: 22438

Gene ontology
Molecular Function:	• nucleotide binding • nucleic acid binding • RNA binding • calmodulin binding • zinc ion binding • metal ion binding
Cellular Component:	• intracellular • nucleus
Biological Process:	• transcription • regulation of transcription, DNA-dependent

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_005243 (mRNA)
NP_005234 (protein)

XM_988357 (mRNA)
XP_993451 (protein)

Location

Chr 22: 27.99 - 28.03 Mb

Chr 11: 4.97 - 5 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: EWSR1 Ewing sarcoma breakpoint region 1.

[edit] 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.