EWS RNA-binding protein 1

Symbol

EWSR1 (may also be known as: None)

Organism

Human

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]

Orthologs

SymbolSpecies
ewsr1b Danio rerio
Ewsr1 Mus musculus
Ewsr1 Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO Category
GO:0006355 regulation of transcription, DNA-dependent biological_process
GO:0005622 intracellular cellular_component
GO:0005634 nucleus cellular_component
GO:0005737 cytoplasm cellular_component
GO:0005886 plasma membrane cellular_component
GO:0000166 nucleotide binding molecular_function
GO:0003676 nucleic acid binding molecular_function
GO:0003723 RNA binding molecular_function
GO:0005515 protein binding molecular_function
GO:0005516 calmodulin binding molecular_function
GO:0008270 zinc ion binding molecular_function
GO:0046872 metal ion binding molecular_function