EWSR1
Sign in to saveAlso known as EWS, bK984G1.4, EWS-FLI1, Ewing sarcoma breakpoint region 1, EWS RNA binding protein 1
protein-coding gene in the species Homo sapiens
Gene data
EWSR1- Name
- EWS RNA binding protein 1
- Type
- protein-coding
- Aliases
- EWS, EWS-FLI1
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].
via MyGene.info
Gene · Ensembl
EWS RNA binding protein 1
- Symbol
- EWSR1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 22:29,268,009-29,300,530
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
- Image
- Protein EWSR1 PDB 2cpe.png
Show 7 more facts
- HomoloGene ID
- 136069
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/2130
- genomic end
- 29696515
- genomic start
- 29663998
- chromosome
- human chromosome 22
- cytogenetic location
- 22q12.2
Sources (4)
via Wikidata · CC0