EWSR1

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]

Description

EWS RNA binding protein 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Nucleoli rim

Predicted location

Intracellular

Protein family

Cancer-related genes
Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

22 (29268009 - 29300525)

Ensembl ID

ENSG00000182944  (ver. 103.38)

Orthologs

Mouse Ewsr1: ENSMUSG00000009079

UniProt

Q01844

neXtProt

NX_Q01844

Human splice variants
Mouse splice variants

Protein structure