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EWSR1 (NM_001163285) - EWS RNA binding protein 1

Rna-Binding Protein Ews Isoform 3

Mutations Visualisation

Protein summary

This is an alternative isoform of EWSR1 protein. View all 5 isoforms
EWSR1: RNA-binding protein EWS isoform 3
Description:

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].

Strand
+
Chromosome
22
Protein
655 residues
All mutations
85
PTM sites
44
CDS
29,664,325 - 29,696,151
Transcription
29,663,997 - 29,696,515
90.99% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 2130
UniProt
Ensembl