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, Jul 2009].
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Toretsky, Erkizan, Levenson, Abaan, Parvin, Cripe, Rice, Lee, Uren: "Oncoprotein EWS-FLI1 activity is enhanced by RNA helicase A." in: Cancer research, Vol. 66, Issue 11, pp. 5574-81, (2006) (PubMed).
Davis, Kim, Ozsolak, Widlund, Rozenblatt-Rosen, Granter, Du, Fletcher, Denny, Lessnick, Linehan, Kung, Fisher: "Oncogenic MITF dysregulation in clear cell sarcoma: defining the MiT family of human cancers." in: Cancer cell, Vol. 9, Issue 6, pp. 473-84, (2006) (PubMed).
Aliases for EWSR1 抗体
EWS RNA binding protein 1 (EWSR1) 抗体 Ewing sarcoma breakpoint region 1 (Ewsr1) 抗体 EWS RNA-binding protein 1 (Ewsr1) 抗体 EWS RNA-binding protein 1a (ewsr1a) 抗体 EWS RNA binding protein 1 (ewsr1) 抗体 EWS RNA binding protein 1 (Ewsr1) 抗体 EWS RNA binding protein 1 L homeolog (ewsr1.L) 抗体 EWS RNA-binding protein 1b (ewsr1b) 抗体 AU018891 抗体 bK984G1.4 抗体 DKFZp459K1116 抗体 EWS 抗体 Ews 抗体 Ewsh 抗体 EWSR1 抗体 ewsr1 抗体 ewsr1.S 抗体 fb40b11 抗体 fc04c01 抗体 fusl 抗体 wu:fb40b11 抗体 wu:fb75g09 抗体 wu:fc04c01 抗体 zgc:55864 抗体