Ewing sarcoma breakpoint region 1: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''RNA-binding protein EWS''' is a [[protein]] that in humans is encoded by the ''EWSR1'' [[gene]] on human chromosome 22, specifically 22q12.2.<ref name="pmid1522903">{{cite journal | vauthors = Delattre O, Zucman J, Plougastel B, Desmaze C, Melot T, Peter M, Kovar H, Joubert I, de Jong P, Rouleau G | title = Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours | journal = Nature | volume = 359 | issue = 6391 | pages = 162–5 | date = October 1992 | pmid = 1522903 | pmc =  | doi = 10.1038/359162a0 | bibcode = 1992Natur.359..162D }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: EWSR1 Ewing sarcoma breakpoint region 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2130| accessdate = }}</ref> This region of chromosome 22 encodes the N-terminal transactivation domain of the EWS protein and that region may become joined to one of several other chromosomes which encode various transcription factors, see <ref>{{cite web|url=http://omim.org/entry/133450 |title=EWS family fusion genes - OMIM}}</ref> The expression of a chimeric protein with the EWS transactivation domain fused to the DNA binding region of a transcription factor generates a powerful oncogenic protein causing [[Ewing sarcoma]] and other members of the [[Ewing family of tumors]]. These translocations occur due to [[chromoplexy]], a burst of complex chromosomal rearrangements seen in cancer cells. <ref name="pmid30166462">{{cite journal | vauthors = Anderson ND, de Borja R, Young MD, Fuligni F, Rosic A, Roberts ND, Hajjar S, Layeghifard M, Novokmet A, Kowalski PE, Anaka M | title = Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors. | journal = Science | volume = 361 | issue = 6405 | pages = eaam8419 | date = August 2018 | pmid = 30166462 | pmc = 6176908 | doi = 10.1126/science.aam8419 }}</ref> The normal EWS gene encodes a RNA binding protein closely related to [[FUS/TLS]] and [[TAF15]], all of which have been associated to [[amyotrophic lateral sclerosis]].<ref name="pmid22454397">{{cite journal | vauthors = Couthouis J, Hart MP, Erion R, King OD, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Mojsilovic-Petrovic J, Panossian S, Kim CE, Frackelton EC, Solski JA, Williams KL, Clay-Falcone D, Elman L, McCluskey L, Greene R, Hakonarson H, Kalb RG, Lee VM, Trojanowski JQ, Nicholson GA, Blair IP, Bonini NM, Van Deerlin VM, Mourelatos Z, Shorter J, Gitler AD | title = Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis | journal = Hum. Mol. Genet. | volume = 21 | issue = 13 | pages = 2899–911 | year = 2012 | pmid = 22454397 | pmc = 3373238 | doi = 10.1093/hmg/dds116 }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Interactions ==
{{GNF_Protein_box
The EWS protein has been shown to [[Protein-protein interaction|interact]] with:
| image = PBB_Protein_EWSR1_image.jpg
* [[ATF1]],<ref name = "pmid8552387">{{cite journal | vauthors = Fujimura Y, Ohno T, Siddique H, Lee L, Rao VN, Reddy ES | title = The EWS-ATF-1 gene involved in malignant melanoma of soft parts with t(12;22) chromosome translocation, encodes a constitutive transcriptional activator | journal = Oncogene | volume = 12 | issue = 1 | pages = 159–67 | date = January 1996 | pmid = 8552387 | doi =  }}</ref>
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 2cpe.
* [[BARD1]],<ref name = pmid12183411>{{cite journal | vauthors = Spahn L, Petermann R, Siligan C, Schmid JA, Aryee DN, Kovar H | title = Interaction of the EWS NH2 terminus with BARD1 links the Ewing's sarcoma gene to a common tumor suppressor pathway | journal = Cancer Res. | volume = 62 | issue = 16 | pages = 4583–7 | date = August 2002 | pmid = 12183411 | doi = }}</ref>
| PDB = {{PDB2|2cpe}}
* [[ERG (gene)|ERG]],<ref name = "pmid8084618">{{cite journal | vauthors = Ohno T, Ouchida M, Lee L, Gatalica Z, Rao VN, Reddy ES | title = 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 | journal = Oncogene | volume = 9 | issue = 10 | pages = 3087–97 | date = Oct 1994 | pmid = 8084618 | doi = }}</ref>
| Name = Ewing sarcoma breakpoint region 1
* [[POU4F1]],<ref name = pmid12432261>{{cite journal | vauthors = Thomas GR, Latchman DS | title = The pro-oncoprotein EWS (Ewing's Sarcoma protein) interacts with the Brn-3a POU transcription factor and inhibits its ability to activate transcription | journal = Cancer Biol. Ther. | volume = 1 | issue = 4 | pages = 428–32 | pmid = 12432261 | doi = 10.4161/cbt.1.4.23| year = 2002 }}</ref>
| HGNCid = 3508
* [[PTK2B]]<ref name = pmid10322114>{{cite journal | vauthors = Felsch JS, Lane WS, Peralta EG | title = Tyrosine kinase Pyk2 mediates G-protein-coupled receptor regulation of the Ewing sarcoma RNA-binding protein EWS | journal = Curr. Biol. | volume = 9 | issue = 9 | pages = 485–8 | date = May 1999 | pmid = 10322114 | doi =  10.1016/s0960-9822(99)80214-0}}</ref>
| Symbol = EWSR1
* [[SF1 (gene)|SF1]],<ref name = pmid9660765>{{cite journal | vauthors = Zhang D, Paley AJ, Childs G | title = The transcriptional repressor ZFM1 interacts with and modulates the ability of EWS to activate transcription | journal = J. Biol. Chem. | volume = 273 | issue = 29 | pages = 18086–91 | date = July 1998 | pmid = 9660765 | doi = 10.1074/jbc.273.29.18086}}</ref>
| AltSymbols =; EWS
* [[Small nuclear ribonucleoprotein polypeptide C|SNRPC]],<ref name = pmid10827180>{{cite journal | vauthors = Knoop LL, Baker SJ | title = The splicing factor U1C represses EWS/FLI-mediated transactivation | journal = J. Biol. Chem. | volume = 275 | issue = 32 | pages = 24865–71 | date = August 2000 | pmid = 10827180 | doi = 10.1074/jbc.M001661200 }}</ref>  and
| OMIM = 133450
* [[Zinc finger protein 165|ZNF165]].<ref name = pmid16189514>{{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = October 2005 | pmid = 16189514 | doi = 10.1038/nature04209 | bibcode = 2005Natur.437.1173R }}</ref>
| ECnumber =   
| Homologene = 22438
| MGIid = 99960
| GeneAtlas_image1 = PBB_GE_EWSR1_210012_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0003676 |text = nucleic acid binding}} {{GNF_GO|id=GO:0003723 |text = RNA binding}} {{GNF_GO|id=GO:0005516 |text = calmodulin binding}} {{GNF_GO|id=GO:0008270 |text = zinc ion binding}} {{GNF_GO|id=GO:0046872 |text = metal ion binding}}  
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}}  
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2130
    | Hs_Ensembl = ENSG00000182944
    | Hs_RefseqProtein = NP_005234
    | Hs_RefseqmRNA = NM_005243
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = 22
    | Hs_GenLoc_start = 27994283
    | Hs_GenLoc_end = 28026504
    | Hs_Uniprot = Q01844
    | Mm_EntrezGene = 14030
    | Mm_Ensembl = ENSMUSG00000009079
    | Mm_RefseqmRNA = XM_988357
    | Mm_RefseqProtein = XP_993451
    | Mm_GenLoc_db =
    | Mm_GenLoc_chr = 11
    | Mm_GenLoc_start = 4969692
    | Mm_GenLoc_end = 4999269
    | Mm_Uniprot = Q9CRS5
  }}
}}
'''Ewing sarcoma breakpoint region 1''', also known as '''EWSR1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EWSR1 Ewing sarcoma breakpoint region 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2130| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== References ==
{{PBB_Summary
{{reflist}}
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: EWSR1 Ewing sarcoma breakpoint region 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2130| accessdate = }}</ref>
}}


==References==
== Further reading ==
{{reflist|2}}
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Ohno T, Rao VN, Reddy ES | title = EWS/Fli-1 chimeric protein is a transcriptional activator | journal = Cancer Res. | volume = 53 | issue = 24 | pages = 5859–63 | date = December 1993 | pmid = 7503813 | doi =  | url =  | issn =  }}
| citations =
* {{cite journal | vauthors = Ouchida M, Ohno T, Fujimura Y, Rao VN, Reddy ES | title = Loss of tumorigenicity of Ewing's sarcoma cells expressing antisense RNA to EWS-fusion transcripts | journal = Oncogene | volume = 11 | issue = 6 | pages = 1049–54 | date = September 1995 | pmid = 7566963 | doi =  | url =  | issn =  }}
*{{cite journal | author=Ban J, Siligan C, Kreppel M, ''et al.'' |title=EWS-FLI1 in Ewing's sarcoma: real targets and collateral damage. |journal=Adv. Exp. Med. Biol. |volume=587 |issue= |pages= 41-52 |year= 2007 |pmid= 17163154 |doi=  }}
* {{cite book | vauthors = Ban J, Siligan C, Kreppel M, Aryee D, Kovar H | title = EWS-FLI1 in Ewing's sarcoma: real targets and collateral damage | journal = Adv. Exp. Med. Biol. | volume = 587 | issue = | pages = 41–52 | year = 2007 | pmid = 17163154 | doi = 10.1007/978-1-4020-5133-3_4 | series = Advances in Experimental Medicine and Biology | isbn = 978-1-4020-4966-8 }}
*{{cite journal | author=Meister HP |title=[Morphological findings of chronic constipation in childhood] |journal=Monatsschrift für Kinderheilkunde |volume=124 |issue= 5 |pages= 354-6 |year= 1976 |pmid= 934118 |doi=  }}
* {{cite journal | vauthors = Meister HP | title = [Morphological findings of chronic constipation in childhood] | journal = Monatsschrift für Kinderheilkunde | volume = 124 | issue = 5 | pages = 354–6 | year = 1976 | pmid = 934118 | doi = }}
*{{cite journal  | author=Guthrie GM, Verstraete A, Deines MM, Stern RM |title=Symptoms of stress in four societies. |journal=The Journal of social psychology |volume=95 |issue= Second half |pages= 165-72 |year= 1975 |pmid= 1127890 |doi= }}
* {{cite journal | vauthors = Guthrie GM, Verstraete A, Deines MM, Stern RM | title = Symptoms of stress in four societies | journal = The Journal of Social Psychology | volume = 95 | issue = Second half | pages = 165–72 | year = 1975 | pmid = 1127890 | doi = 10.1080/00224545.1975.9918699 }}
*{{cite journal | author=Delattre O, Zucman J, Plougastel B, ''et al.'' |title=Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours. |journal=Nature |volume=359 |issue= 6391 |pages= 162-5 |year= 1992 |pmid= 1522903 |doi= 10.1038/359162a0 }}
* {{cite journal | vauthors = Bhagirath T, Abe S, Nojima T, Yoshida MC | title = Molecular analysis of a t(11;22) translocation junction in a case of Ewing's sarcoma | journal = Genes Chromosomes Cancer | volume = 13 | issue = 2 | pages = 126–32 | year = 1995 | pmid = 7542907 | doi = 10.1002/gcc.2870130209 }}
*{{cite journal | author=Bhagirath T, Abe S, Nojima T, Yoshida MC |title=Molecular analysis of a t(11;22) translocation junction in a case of Ewing's sarcoma. |journal=Genes Chromosomes Cancer |volume=13 |issue= 2 |pages= 126-32 |year= 1995 |pmid= 7542907 |doi= }}
* {{cite journal | vauthors = Ohno T, Ouchida M, Lee L, Gatalica Z, Rao VN, Reddy ES | title = 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 | journal = Oncogene | volume = 9 | issue = 10 | pages = 3087–97 | year = 1994 | pmid = 8084618 | doi =  }}
*{{cite journal | author=Ohno T, Ouchida M, Lee L, ''et al.'' |title=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. |journal=Oncogene |volume=9 |issue= 10 |pages= 3087-97 |year= 1994 |pmid= 8084618 |doi= }}
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | year = 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
*{{cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi=  }}
* {{cite journal | vauthors = Plougastel B, Zucman J, Peter M, Thomas G, Delattre O | title = Genomic structure of the EWS gene and its relationship to EWSR1, a site of tumor-associated chromosome translocation | journal = Genomics | volume = 18 | issue = 3 | pages = 609–15 | year = 1994 | pmid = 8307570 | doi = 10.1016/S0888-7543(05)80363-5 }}
*{{cite journal | author=Plougastel B, Zucman J, Peter M, ''et al.'' |title=Genomic structure of the EWS gene and its relationship to EWSR1, a site of tumor-associated chromosome translocation. |journal=Genomics |volume=18 |issue= 3 |pages= 609-15 |year= 1994 |pmid= 8307570 |doi= }}
* {{cite journal | vauthors = Zucman J, Delattre O, Desmaze C, Epstein AL, Stenman G, Speleman F, Fletchers CD, Aurias A, Thomas G | title = EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts | journal = Nat. Genet. | volume = 4 | issue = 4 | pages = 341–5 | year = 1993 | pmid = 8401579 | doi = 10.1038/ng0893-341 }}
*{{cite journal | author=Zucman J, Delattre O, Desmaze C, ''et al.'' |title=EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts. |journal=Nat. Genet. |volume=4 |issue= 4 |pages= 341-5 |year= 1993 |pmid= 8401579 |doi= 10.1038/ng0893-341 }}
* {{cite journal | vauthors = Brodie SG, Stocker SJ, Wardlaw JC, Duncan MH, McConnell TS, Feddersen RM, Williams TM | title = EWS and WT-1 gene fusion in desmoplastic small round cell tumor of the abdomen | journal = Hum. Pathol. | volume = 26 | issue = 12 | pages = 1370–4 | year = 1996 | pmid = 8522311 | doi = 10.1016/0046-8177(95)90303-8 }}
*{{cite journal | author=Brodie SG, Stocker SJ, Wardlaw JC, ''et al.'' |title=EWS and WT-1 gene fusion in desmoplastic small round cell tumor of the abdomen. |journal=Hum. Pathol. |volume=26 |issue= 12 |pages= 1370-4 |year= 1996 |pmid= 8522311 |doi= }}
* {{cite journal | vauthors = Fujimura Y, Ohno T, Siddique H, Lee L, Rao VN, Reddy ES | title = The EWS-ATF-1 gene involved in malignant melanoma of soft parts with t(12;22) chromosome translocation, encodes a constitutive transcriptional activator | journal = Oncogene | volume = 12 | issue = 1 | pages = 159–67 | year = 1996 | pmid = 8552387 | doi =  }}
*{{cite journal | author=Fujimura Y, Ohno T, Siddique H, ''et al.'' |title=The EWS-ATF-1 gene involved in malignant melanoma of soft parts with t(12;22) chromosome translocation, encodes a constitutive transcriptional activator. |journal=Oncogene |volume=12 |issue= 1 |pages= 159-67 |year= 1996 |pmid= 8552387 |doi= }}
* {{cite journal | vauthors = Clark J, Benjamin H, Gill S, Sidhar S, Goodwin G, Crew J, Gusterson BA, Shipley J, Cooper CS | title = Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma | journal = Oncogene | volume = 12 | issue = 2 | pages = 229–35 | year = 1996 | pmid = 8570200 | doi =  }}
*{{cite journal | author=Clark J, Benjamin H, Gill S, ''et al.'' |title=Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma. |journal=Oncogene |volume=12 |issue= 2 |pages= 229-35 |year= 1996 |pmid= 8570200 |doi=  }}
* {{cite journal | vauthors = Magnaghi-Jaulin L, Masutani H, Robin P, Lipinski M, Harel-Bellan A | title = SRE elements are binding sites for the fusion protein EWS-FLI-1 | journal = Nucleic Acids Res. | volume = 24 | issue = 6 | pages = 1052–8 | year = 1996 | pmid = 8604338 | pmc = 145748 | doi = 10.1093/nar/24.6.1052 }}
*{{cite journal | author=Magnaghi-Jaulin L, Masutani H, Robin P, ''et al.'' |title=SRE elements are binding sites for the fusion protein EWS-FLI-1. |journal=Nucleic Acids Res. |volume=24 |issue= 6 |pages= 1052-8 |year= 1996 |pmid= 8604338 |doi=  }}
* {{cite journal | vauthors = Bonaldo MF, Lennon G, Soares MB | title = Normalization and subtraction: two approaches to facilitate gene discovery | journal = Genome Res. | volume = 6 | issue = 9 | pages = 791–806 | year = 1997 | pmid = 8889548 | doi = 10.1101/gr.6.9.791 }}
*{{cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi= }}
* {{cite journal | vauthors = Aman P, Panagopoulos I, Lassen C, Fioretos T, Mencinger M, Toresson H, Höglund M, Forster A, Rabbitts TH, Ron D, Mandahl N, Mitelman F | title = Expression patterns of the human sarcoma-associated genes FUS and EWS and the genomic structure of FUS | journal = Genomics | volume = 37 | issue = 1 | pages = 1–8 | year = 1997 | pmid = 8921363 | doi = 10.1006/geno.1996.0513 }}
*{{cite journal | author=Aman P, Panagopoulos I, Lassen C, ''et al.'' |title=Expression patterns of the human sarcoma-associated genes FUS and EWS and the genomic structure of FUS. |journal=Genomics |volume=37 |issue= 1 |pages= 1-8 |year= 1997 |pmid= 8921363 |doi= 10.1006/geno.1996.0513 }}
* {{cite journal | vauthors = Morohoshi F, Arai K, Takahashi EI, Tanigami A, Ohki M | title = Cloning and mapping of a human RBP56 gene encoding a putative RNA binding protein similar to FUS/TLS and EWS proteins | journal = Genomics | volume = 38 | issue = 1 | pages = 51–7 | year = 1997 | pmid = 8954779 | doi = 10.1006/geno.1996.0591 }}
*{{cite journal | author=Morohoshi F, Arai K, Takahashi EI, ''et al.'' |title=Cloning and mapping of a human RBP56 gene encoding a putative RNA binding protein similar to FUS/TLS and EWS proteins. |journal=Genomics |volume=38 |issue= 1 |pages= 51-7 |year= 1997 |pmid= 8954779 |doi= 10.1006/geno.1996.0591 }}
* {{cite journal | vauthors = Zucman-Rossi J, Legoix P, Thomas G | title = Identification of new members of the Gas2 and Ras families in the 22q12 chromosome region | journal = Genomics | volume = 38 | issue = 3 | pages = 247–54 | year = 1997 | pmid = 8975699 | doi = 10.1006/geno.1996.0625 }}
*{{cite journal | author=Zucman-Rossi J, Legoix P, Thomas G |title=Identification of new members of the Gas2 and Ras families in the 22q12 chromosome region. |journal=Genomics |volume=38 |issue= 3 |pages= 247-54 |year= 1997 |pmid= 8975699 |doi= 10.1006/geno.1996.0625 }}
* {{cite journal | vauthors = Guinamard R, Fougereau M, Seckinger P | title = The SH3 domain of Bruton's tyrosine kinase interacts with Vav, Sam68 and EWS | journal = Scand. J. Immunol. | volume = 45 | issue = 6 | pages = 587–95 | year = 1997 | pmid = 9201297 | doi = 10.1046/j.1365-3083.1997.d01-447.x }}
*{{cite journal | author=Guinamard R, Fougereau M, Seckinger P |title=The SH3 domain of Bruton's tyrosine kinase interacts with Vav, Sam68 and EWS. |journal=Scand. J. Immunol. |volume=45 |issue= 6 |pages= 587-95 |year= 1997 |pmid= 9201297 |doi= }}
* {{cite journal | vauthors = Deloulme JC, Prichard L, Delattre O, Storm DR | title = The prooncoprotein EWS binds calmodulin and is phosphorylated by protein kinase C through an IQ domain | journal = J. Biol. Chem. | volume = 272 | issue = 43 | pages = 27369–77 | year = 1997 | pmid = 9341188 | doi = 10.1074/jbc.272.43.27369 }}
*{{cite journal | author=Deloulme JC, Prichard L, Delattre O, Storm DR |title=The prooncoprotein EWS binds calmodulin and is phosphorylated by protein kinase C through an IQ domain. |journal=J. Biol. Chem. |volume=272 |issue= 43 |pages= 27369-77 |year= 1997 |pmid= 9341188 |doi= }}
* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | year = 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
*{{cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi= }}
}}
{{refend}}
{{refend}}


{{gene-22-stub}}
== External links ==
* [http://atlasgeneticsoncology.org/Genes/EWSR1ID85.html Ewing sarcoma breakpoint region 1] on the [[Atlas of Genetics and Cytogenetics in Oncology and Haematology|Atlas of Genetics and Oncology]]
 
{{PDB Gallery|geneid=2130}}
 
[[Category:Oncogenes]]

Latest revision as of 12:25, 9 January 2019

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

RNA-binding protein EWS is a protein that in humans is encoded by the EWSR1 gene on human chromosome 22, specifically 22q12.2.[1][2] This region of chromosome 22 encodes the N-terminal transactivation domain of the EWS protein and that region may become joined to one of several other chromosomes which encode various transcription factors, see [3] The expression of a chimeric protein with the EWS transactivation domain fused to the DNA binding region of a transcription factor generates a powerful oncogenic protein causing Ewing sarcoma and other members of the Ewing family of tumors. These translocations occur due to chromoplexy, a burst of complex chromosomal rearrangements seen in cancer cells. [4] The normal EWS gene encodes a RNA binding protein closely related to FUS/TLS and TAF15, all of which have been associated to amyotrophic lateral sclerosis.[5]

Interactions

The EWS protein has been shown to interact with:

References

  1. ↑ Delattre O, Zucman J, Plougastel B, Desmaze C, Melot T, Peter M, Kovar H, Joubert I, de Jong P, Rouleau G (October 1992). "Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours". Nature. 359 (6391): 162–5. Bibcode:1992Natur.359..162D. doi:10.1038/359162a0. PMID 1522903.
  2. ↑ "Entrez Gene: EWSR1 Ewing sarcoma breakpoint region 1".
  3. ↑ "EWS family fusion genes - OMIM".
  4. ↑ Anderson ND, de Borja R, Young MD, Fuligni F, Rosic A, Roberts ND, Hajjar S, Layeghifard M, Novokmet A, Kowalski PE, Anaka M (August 2018). "Rearrangement bursts generate canonical gene fusions in bone and soft tissue tumors". Science. 361 (6405): eaam8419. doi:10.1126/science.aam8419. PMC 6176908. PMID 30166462.
  5. ↑ Couthouis J, Hart MP, Erion R, King OD, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Mojsilovic-Petrovic J, Panossian S, Kim CE, Frackelton EC, Solski JA, Williams KL, Clay-Falcone D, Elman L, McCluskey L, Greene R, Hakonarson H, Kalb RG, Lee VM, Trojanowski JQ, Nicholson GA, Blair IP, Bonini NM, Van Deerlin VM, Mourelatos Z, Shorter J, Gitler AD (2012). "Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis". Hum. Mol. Genet. 21 (13): 2899–911. doi:10.1093/hmg/dds116. PMC 3373238. PMID 22454397.
  6. ↑ 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.
  7. ↑ Spahn L, Petermann R, Siligan C, Schmid JA, Aryee DN, Kovar H (August 2002). "Interaction of the EWS NH2 terminus with BARD1 links the Ewing's sarcoma gene to a common tumor suppressor pathway". Cancer Res. 62 (16): 4583–7. PMID 12183411.
  8. ↑ Ohno T, Ouchida M, Lee L, Gatalica Z, Rao VN, 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.
  9. ↑ Thomas GR, Latchman DS (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. 1 (4): 428–32. doi:10.4161/cbt.1.4.23. PMID 12432261.
  10. ↑ Felsch JS, Lane WS, Peralta EG (May 1999). "Tyrosine kinase Pyk2 mediates G-protein-coupled receptor regulation of the Ewing sarcoma RNA-binding protein EWS". Curr. Biol. 9 (9): 485–8. doi:10.1016/s0960-9822(99)80214-0. PMID 10322114.
  11. ↑ Zhang D, Paley AJ, Childs G (July 1998). "The transcriptional repressor ZFM1 interacts with and modulates the ability of EWS to activate transcription". J. Biol. Chem. 273 (29): 18086–91. doi:10.1074/jbc.273.29.18086. PMID 9660765.
  12. ↑ Knoop LL, Baker SJ (August 2000). "The splicing factor U1C represses EWS/FLI-mediated transactivation". J. Biol. Chem. 275 (32): 24865–71. doi:10.1074/jbc.M001661200. PMID 10827180.
  13. ↑ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514.

Further reading

  • 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, Aryee D, Kovar H (2007). EWS-FLI1 in Ewing's sarcoma: real targets and collateral damage. Adv. Exp. Med. Biol. Advances in Experimental Medicine and Biology. 587. pp. 41–52. doi:10.1007/978-1-4020-5133-3_4. ISBN 978-1-4020-4966-8. 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, Gatalica Z, Rao VN, Reddy ES (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, Thomas G, Delattre O (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, Epstein AL, Stenman G, Speleman F, Fletchers CD, Aurias A, Thomas G (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, Duncan MH, McConnell TS, Feddersen RM, Williams TM (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, Lee L, Rao VN, Reddy ES (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, Sidhar S, Goodwin G, Crew J, Gusterson BA, Shipley J, Cooper CS (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, Lipinski M, Harel-Bellan A (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, Fioretos T, Mencinger M, Toresson H, Höglund M, Forster A, Rabbitts TH, Ron D, Mandahl N, Mitelman F (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, Tanigami A, Ohki M (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, Suyama A, Sugano S (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

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