Sequence in raw or FASTA format:
EWSR1 EWS RNA-binding protein 1 [Homo sapiens (human)]
|Entrez Gene ID||2130|
|Full Name||EWS RNA-binding protein 1|
|General protein information||
|Organism||Homo sapiens (human)|
|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, Jul 2009].|
Ewing sarcoma, 612219 (3); Neuroepithelioma, 612219 (3)
|hsa05202||Transcriptional misregulation in cancer|
|bard1pathway||BARD1 signaling events|
|GO:0006355||regulation of transcription, DNA-templated||IEA|
|GO:0008270||zinc ion binding||IEA|
|GO:0042802||identical protein binding||IPI|
|GO:0044822||poly(A) RNA binding||IDA|
What is the normal function of the EWSR1 gene?
The EWSR1 gene provides instructions for making the EWS protein, whose function is not completely understood. The EWS protein has two regions that contribute to its function. One region, the transcriptional activation domain, allows the EWS protein to turn on (activate) the first step in the production of proteins from genes (transcription). The other region, the RNA-binding domain, allows the EWS protein to attach (bind) to the genetic blueprint for proteins called RNA. The EWS protein may be involved in piecing together this blueprint. Some studies suggest that the RNA-binding domain is able to block (inhibit) the activity of the transcriptional activation domain, and thus regulate the function of the EWS protein.
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