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26 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EWSR1
EWS RNA binding protein 1
Chromosome 22 · 22q12.2
NCBI Gene: 2130Ensembl: ENSG00000182944.18HGNC: HGNC:3508UniProt: A0A0D9SFL3
507PubMed Papers
22Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub GeneOncogeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmRNA bindingprotein bindingidentical protein bindingneurodegenerative diseaseEwing sarcomadesmoplastic small round cell tumorclear cell sarcoma
✦AI Summary

EWSR1 is a multifunctional RNA-binding protein that serves as both a transcriptional regulator and a structural component of cellular homeostasis. The protein binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' and functions as a transcriptional repressor under normal conditions 1. Beyond transcriptional roles, EWSR1 maintains centromere identity by interacting with CENP-A through its prion-like SYGQ2 domain and RNA-recognition motif, binding centromeric R-loops to preserve centromeric chr22 architecture 2. EWSR1 also functions as a checkpoint regulator in immune responses, with the TRAF3-EWSR1 signaling axis negatively regulating germinal center formation and IgG production by suppressing Bcl6 upregulation 3. Disease relevance centers on EWSR1 fusion proteins, which are the most common rearrangements in mesenchymal neoplasias 4. The EWSR1-FLI1 fusion, present in 85% of Ewing sarcoma cases, creates a tumor-specific chimeric transcription factor with neomorphic effects that massively rewires the transcriptome and reprograms the epigenome by inducing de novo enhancers at GGAA microsatellites 5. Emerging therapeutic approaches target factors that promote EWSR1-FLI1 expression, such as C1GALT1, with FDA-approved itraconazole showing promise in reducing tumor growth 6. EWSR1 rearrangements also associate with angiomatoid fibrous histiocytoma and other sarcoma subtypes.

Sources cited
1
EWSR1 binds to ssRNA containing the consensus sequence 5'-AGGUAA-3'
PMID: 21256132
2
EWSR1 maintains centromere identity by interacting with CENP-A and binding centromeric R-loops through its prion-like domain and RNA-recognition motif
PMID: 37243594
3
TRAF3-EWSR1 signaling axis negatively regulates germinal center responses and IgG production by suppressing Bcl6 upregulation
PMID: 37097293
4
EWSR1 is the most commonly rearranged gene in mesenchymal neoplasia with multiple chimeric oncoproteins
PMID: 39209444
5
EWSR1-FLI1 fusion (85% of Ewing sarcoma cases) is a tumor-specific chimeric transcription factor that rewires the transcriptome and reprograms the epigenome by inducing de novo enhancers
PMID: 29977059
6
C1GALT1 promotes EWSR1-FLI1 expression through Hedgehog pathway activation, and itraconazole inhibition reduces EWSR1-FLI1 levels and suppresses Ewing sarcoma xenograft growth
PMID: 39894896
Disease Associationsⓘ22
neurodegenerative diseaseOpen Targets
0.47Moderate
Ewing sarcomaOpen Targets
0.41Moderate
desmoplastic small round cell tumorOpen Targets
0.38Weak
clear cell sarcomaOpen Targets
0.38Weak
myoepithelial tumorOpen Targets
0.38Weak
synovial sarcomaOpen Targets
0.38Weak
extraskeletal myxoid chondrosarcomaOpen Targets
0.38Weak
rhabdomyosarcomaOpen Targets
0.38Weak
myxoid chondrosarcomaOpen Targets
0.37Weak
Ewing sarcoma/peripheral primitive neuroectodermal tumorOpen Targets
0.37Weak
liposarcomaOpen Targets
0.37Weak
alveolar rhabdomyosarcomaOpen Targets
0.37Weak
chondrosarcomaOpen Targets
0.37Weak
leiomyosarcomaOpen Targets
0.37Weak
malignant peripheral nerve sheath tumorOpen Targets
0.37Weak
embryonal rhabdomyosarcomaOpen Targets
0.37Weak
undifferentiated pleomorphic sarcomaOpen Targets
0.37Weak
Askin TumorOpen Targets
0.37Weak
Olfactory NeuroblastomaOpen Targets
0.37Weak
histiocytomaOpen Targets
0.37Weak
Angiomatoid fibrous histiocytomaUniProt
Ewing sarcomaUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DROSHAProtein interaction100%TP53Protein interaction100%DDX17Protein interaction99%TNPO1Protein interaction99%SRSF10Protein interaction99%CD99L2Protein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
57%
Liver
56%
Lung
54%
Heart
40%
Brain
33%
Gene Interaction Network
Click a node to explore
EWSR1DROSHATP53DDX17TNPO1SRSF10CD99L2
PROTEIN STRUCTURE
Preparing viewer…
PDB2CPE · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.25Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.10–0.25]
RankingsWhere EWSR1 stands among ~20K protein-coding genes
  • #526of 20,598
    Most Researched507 · top 5%
  • #755of 17,882
    Most Constrained (LOEUF)0.25 · top 5%
Genes detectedEWSR1
Sources retrieved26 papers
Response time—
📄 Sources
26▼
1
Ewing sarcoma.
PMID: 29977059
Nat Rev Dis Primers · 2018
1.00
2
The O-glycosyltransferase C1GALT1 promotes EWSR1::FLI1 expression and is a therapeutic target for Ewing sarcoma.
PMID: 39894896
Nat Commun · 2025
0.90
3
Gastroblastoma without GLI1 and EWSR1 gene breaks.
PMID: 37658451
World J Surg Oncol · 2023
0.80
4
PMID: 32615834
Int J Surg Pathol · 2021
0.76
5
Sarcomas with EWSR1::Non-ETS Fusion (EWSR1::NFATC2 and EWSR1::PATZ1).
PMID: 38278606
Surg Pathol Clin · 2024
0.70