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Description for Protein EWSR1

Ewing sarcoma breakpoint region 1
153 total interacting proteins; 57 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
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] (PubMed Links)
Domains and Motifs:
  • RRM: RNA recognition motif
  • ZnF_RBZ: Zinc finger domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K13209
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Ewing sarcoma breakpoint region 1 isoform EWS-b; Ewing sarcoma breakpoint region 1 isoform EWS; EWS; ES; PNE; RNA binding protein EWS; BK984G1.4 (Ewing sarcoma breakpoint region 1 protein); EWS oncogene
    Approved Symbol:
    EWSR1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 10
    Human (de-) phosphorylation sites: 10; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 00592 Entrez Gene ID: 2130 OMIM ID: 133450 Swissprot Accession: Q9BWA2; Q96MX4; B0QYK1;