Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.
| RefSeq Version | NM_005243.3, 253970497 |
| Length | 2679 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA. |
| Product | RNA-binding protein EWS isoform 2 |
| Comment | Summary: This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq]. Transcript Variant: This variant (2) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1. |
| RefSeq | NP_005234.1 |
| CDS | 329..2299 | Exon (1) | 1..341 | Exon (2) | 1..341 | Exon (3) | 342..378 | Exon (4) | 379..430 | Exon (5) | 431..554 | Exon (6) | 555..741 | Exon (7) | 742..909 | Exon (8) | 910..1121 | Exon (9) | 1122..1302 | Exon (10) | 1303..1340 | Exon (11) | 1341..1373 | Exon (12) | 1374..1492 | Exon (13) | 1493..1622 | Exon (14) | 1623..1745 | Exon (15) | 1746..1908 | Exon (16) | 1909..2006 | Exon (17) | 2007..2259 | Exon (18) | 2260..2663 |
| Translation | MASTDYSTYSQAAAQQGYSAYTAQPTQGYAQTTQAYGQQSYGTYGQPTDVSYTQAQTTAT
YGQTAYATSYGQPPTGYTTPTAPQAYSQPVQGYGTGAYDTTTATVTTTQASYAAQSAYGT
QPAYPAYGQQPAATAPTRPQDGNKPTETSQPQSSTGGYNQPSLGYGQSNYSYPQVPGSYP
MQPVTAPPSYPPTSYSSTQPTSYDQSSYSQQNTYGQPSSYGQQSSYGQQSSYGQQPPTSY
PPQTGSYSQAPSQYSQQSSSYGQQSSFRQDHPSSMGVYGQESGGFSGPGENRSMSGPDNR
GRGRGGFDRGGMSRGGRGGGRGGMGSAGERGGFNKPGGPMDEGPDLDLGPPVDPDEDSDN
SAIYVQGLNDSVTLDDLADFFKQCGVVKMNKRTGQPMIHIYLDKETGKPKGDATVSYEDP
PTAKAAVEWFDGKDFQGSKLKVSLARKKPPMNSMRGGLPPREGRGMPPPLRGGPGGPGGP
GGPMGRMGGRGGDRGGFPPRGPRGSRGNPSGGGNVQHRAGDWQCPNPGCGNQNFAWRTEC
NQCKAPKPEGFLPPPFPPPGGDRGRGGPGGMRGGRGGLMDRGGPGGMFRGGRGGDRGGFR
GGRGMDRGGFGGGRRGGPGGPPGPLMEQMGGRRGGRGGPGKMDKGEHRQERRDRPY
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| Position | Chain | Variation | Link |
| 57 | + | a, g | dbSNP:113274927 |
| 124 | + | a, g | dbSNP:116729446 |
| 284 | + | c, t | dbSNP:111892587 |
| complement(326) | - | t, c | dbSNP:2231392 |
| 575 | + | a, c | dbSNP:4823027 |
| 777 | + | a, g | dbSNP:113613489 |
| 808 | + | a, g | dbSNP:17850721 |
| 1043 | + | a, g | dbSNP:113912958 |
| 1290 | + | c, g | dbSNP:71329463 |
| 1721 | + | a, g | dbSNP:41311143 |
| 2172 | + | a, g | dbSNP:115613657 |
| 2179 | + | c, g | dbSNP:111270799 |
| 2395 | + | a, c | dbSNP:16987385 |
| 2395 | + | a, c | dbSNP:3205130 |
| 2428 | + | c, g | dbSNP:728760 |
| complement(2494) | - | g, a | dbSNP:11545666 |
| 2586 | + | c, t | dbSNP:1055852 |
| 2630..2632 | + | , ttt | dbSNP:76631619 |
| 2632 | + | a, t | dbSNP:115736976 |
| Gene Symbol | EWSR1 |
| Gene Synonym | bK984G1.4; EWS |
| Chromosome | 22 |
| Locus Map | 22q12.2 |
| All Transcripts | NM_005243 , NM_013986 , NM_001163285 , NM_001163286 , NM_001163287 |
| Title | EWSR1-POU5F1 fusion in soft tissue myoepithelial tumors. A molecular analysis of sixty-six cases, including soft tissue, bone, and visceral lesions, showing common involvement of the EWSR1 gene . |
| Author | Antonescu,C.R., Zhang,L., Chang,N.E., Pawel,B.R., Travis,W., Katabi,N., Edelman,M., Rosenberg,A.E., Nielsen,G.P., Dal Cin,P. and Fletcher,C.D. |
| Journal | Genes Chromosomes Cancer 49 (12), 1114-1124 (2010) |
| Title | FOXO1 is a direct target of EWS-Fli1 oncogenic fusion protein in Ewing's sarcoma cells . |
| Author | Yang,L., Hu,H.M., Zielinska-Kwiatkowska,A. and Chansky,H.A. |
| Journal | Biochem. Biophys. Res. Commun. 402 (1), 129-134 (2010) |
| Title | EWS-FLI1 inhibits TNFalpha-induced NFkappaB-dependent transcription in Ewing sarcoma cells . |
| Author | Lagirand-Cantaloube,J., Laud,K., Lilienbaum,A., Tirode,F., Delattre,O., Auclair,C. and Kryszke,M.H. |
| Journal | Biochem. Biophys. Res. Commun. 399 (4), 705-710 (2010) |
| Title | Detection of SYT and EWS gene rearrangements by dual-color break-apart CISH in liquid-based cytology samples of synovial sarcoma and Ewing sarcoma/primitive neuroectodermal tumor . |
| Author | Kumagai,A., Motoi,T., Tsuji,K., Imamura,T. and Fukusato,T. |
| Journal | Am. J. Clin. Pathol. 134 (2), 323-331 (2010) |
| Title | Identification and characterization of the nuclear localization/retention signal in the EWS proto-oncoprotein . |
| Author | Zakaryan,R.P. and Gehring,H. |
| Journal | J. Mol. Biol. 363 (1), 27-38 (2006) |
| Title | Molecular analysis of a t(11;22) translocation junction in a case of Ewing's sarcoma . |
| Author | Bhagirath,T., Abe,S., Nojima,T. and Yoshida,M.C. |
| Journal | Genes Chromosomes Cancer 13 (2), 126-132 (1995) |
| 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 . |
| Author | Ohno,T., Ouchida,M., Lee,L., Gatalica,Z., Rao,V.N. and Reddy,E.S. |
| Journal | Oncogene 9 (10), 3087-3097 (1994) |
| Title | Genomic structure of the EWS gene and its relationship to EWSR1, a site of tumor-associated chromosome translocation . |
| Author | Plougastel,B., Zucman,J., Peter,M., Thomas,G. and Delattre,O. |
| Journal | Genomics 18 (3), 609-615 (1993) |
| Title | EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts . |
| Author | Zucman,J., Delattre,O., Desmaze,C., Epstein,A.L., Stenman,G., Speleman,F., Fletchers,C.D., Aurias,A. and Thomas,G. |
| Journal | Nat. Genet. 4 (4), 341-345 (1993) |
| Title | Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours . |
| Author | Delattre,O., Zucman,J., Plougastel,B., Desmaze,C., Melot,T., Peter,M., Kovar,H., Joubert,I., de Jong,P., Rouleau,G. et al. |
| Journal | Nature 359 (6391), 162-165 (1992) |
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