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Symbol EWSR1 contributors: mct - updated : 14-12-2013
HGNC name Ewing sarcoma breakpoint region 1
HGNC id 3508
Corresponding disease
DSRCT desmoplastic small round cell tumor
EWS Ewing sarcoma
Location 22q12.2      Physical location : 29.663.997 - 29.696.514
Synonym name
  • RNA binding protein,involved in Ewing sarcoma (EWSR1)
  • Ewings sarcoma EWS-Fli1 (type 1) oncogene
  • bK984G1.4 (Ewing sarcoma breakpoint region 1 protein)
  • Synonym symbol(s) EWS, bK984G1.4
    TYPE functioning gene
    STRUCTURE 32.52 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • EWSR1 promoter functions in a bidirectional manner, thereby regulating also RHBDD3, and identifies specific regions that strongly influence promoter activity
  • MAPPING cloned Y linked N status confirmed
    Map cen - IGLV@ - D2S10 - BCR - IGLC1 - IGLC2 - D22S209 - CRYB@ - YESP - D22S17 ,D22S208 - D22S46 - D22S1 - (D22S260 - D22S262 ) - D22S33 - D22S41 - D22S213 - D22S193 - D22S42 - XBP1 - D22S56 ,D22S212 - EWSR1 - NEFH - LIF - (D22S32 - D22S38 ),(D22S261 - D22S15 ) - qter
    Physical map
    KIAA1043 22q12.1 KIAA1043 protein LOC284901 22q12.2 similar to bA436C9.2 (PUTATIVE novel protein similar to part of HSP70/HSP90 organizing protein and transformation sensitive protein) CHEK2 22q12.1 CHK2 checkpoint homolog (S. pombe) HSC20 22q12.2 J-type co-chaperone HSC20 FLJ33814 22q12.2 hypothetical protein FLJ33814 XBP1 22q12.2 X-box binding protein 1 LOC388890 22 LOC388890 FLJ12747 22q12.1 novel C3HC4 type Zinc finger (ring finger) HS747E2A 22q12.1 hypothetical protein HS747E2A KREMEN1 22q12.1 kringle containing transmembrane protein 1 EMU1 22q12.2 emilin and multimerin-domain containing protein 1 C22orf3 22q12.1-q12.2 chromosome 22 open reading frame 3 EWSR1 22q12.2 Ewing sarcoma breakpoint region 1 GAS2L1 22q12.2 growth arrest-specific 2 like 1 RRP22 22q12.2 growth arrest-specific 2 like 1 AP1B1 22q12.2 adaptor-related protein complex 1, beta 1 subunit RFPL1 22q12.2 ret finger protein-like 1 NEFH 22q12.2 neurofilament, heavy polypeptide 200kDa C22orf19 22q12 chromosome 22 open reading frame 19 NIPSNAP1 22q12.2 nipsnap homolog 1 (C. elegans) NF2 22q12.2 neurofibromin 2 (bilateral acoustic neuroma) CABP7 22q12.2 calcium binding protein 7 LOC55954 22cen-q12.3 hypothetical protein LOC55954 HSPC051 22cen-q12.3 ubiquinol-cytochrome c reductase complex (7.2 kD) ASC1p100 22q12.1 ASC-1 complex subunit P100 MTMR3 22q12.2 myotubularin related protein 3 LOC391326 22 similar to h2-calponin MGC26710 22q12.2 hypothetical protein MGC26710 LIF 22q12.2 leukemia inhibitory factor (cholinergic differentiation factor) OSM 22q12.2 oncostatin M TBC1D10 22q12.1-qter TBC1 domain family, member 10 SF3A1 22q12.1 splicing factor 3a, subunit 1, 120kDa LOC388891 22 similar to hypothetical protein 4930562D19 LOC200312 22q12.2 similar to RIKEN cDNA 0610009J22 SEC14L2 22q12.2 SEC14-like 2 (S. cerevisiae) HSPC242 22q hypothetical protein HSPC242 LOC391327 22 similar to solute carrier family 39 (zinc transporter), member 1; zinc-iron regulated transporter-like gene; solute carrier family 39 (zinc transporter), member 3; zinc/iron regulated transporter-like SEC14L3 22q12.2 SEC14-like 3 (S. cerevisiae)
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 splicing 2676 - 655 - 2006 16965792
    16 splicing 2511 - 600 - 2006 16965792
    9 splicing 1591 - 354 - 2006 16965792
    17 - 2679 - 656 - 2006 16965792
    18 - 2694 - 661 - 2006 16965792
    Type ubiquitous
       expressed in (based on citations)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen   highly
     thymus   highly
     tonsils   highly
    Urinarybladder   highly
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    at STAGE
  • a N terminal SER, TYR, GLU, GLY rich domain
  • a RNA binding domain and C2-C2 finger motif in the central region
  • C terminal RGG region
  • one IQ, one RRM domain
  • one RANBP2-type zinc finger domain
  • TET (TLS/EWS/TAF15) family of RNA- and DNA-binding proteins
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text with CCNL1 and TFIP11 frequently co-localize to speckled nuclear domains
    basic FUNCTION
  • contributing to an aberrant activation of the fusion protein target genes and to tumorigenic process
  • with CCNL1 and TFIP11, participate in a common cellular activity related to RNA splicing events
  • indispensable for stem cell quiescence
  • is likely to play a significant role in maintaining the functional capacity of stem cells
  • is essential for early brown fat lineage determination
  • promiscuous' gene that can fuse with many different partner genes, but sometimes this results in phenotypically identical tumours
    a component
    small molecule
  • suppression of FOXO1 function by EWS-FLI1 fusion protein may contribute to cellular transformation in Ewing's family tumors
  • negatively regulates AKT1S1 expression by binding the 3prime untranslated region in AKT1S1 mRNA)
  • ETV1 and EWSR1 transactivate FGF10 directly and cooperatively in response to apical ectodermal ridge (AER)-FGFs
  • cell & other
    corresponding disease(s) EWS , DSRCT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion translocation    
    t(7;22)(p22;q12) ; see ETV1
    tumoral fusion translocation    
    t(21;22)(q22;q12) ; see ERG
    tumoral fusion translocation    
    t(12;22)(q13;q12) with malignant melanomas of soft tissues (MMST) ; see ATF1
    tumoral fusion translocation    
    t(11;22)(p13;q12) with desmoplastic small round cell tumor ; see DSRCT
    tumoral fusion translocation    
    t(9;22) (q22-q31;q12) with extraskeletal myxoid chondrosarcoma (EMC) ; see TEC
    tumoral fusion translocation    
    t(17;22) (q12;q12) with undifferentiated sarcoma in infancy ; see E1AF
    tumoral fusion      
    with DDIT3 in t(12;22), in myxoid liposarcoma
    tumoral fusion      
    with CREB1 in t(2;22)(q33;q12) in angiomatoid fibrous histiocytoma
    tumoral fusion      
    with PBX1 in (1;22)(q23;q12) in myoepithelioma
    tumoral fusion      
    with FLI1, t(11;22)(q24;q12) in Ewing sarcoma, cancer-specific molecule that binds to RHA essential for the function of EWS-FLI1
    tumoral fusion      
    wirh POU5F1 in t(6;22)(p21;q12) associated with bone and soft-tissue tumours resulting in a chimaeric molecule fusing the NTD (N-terminal domain) of the EWSR1 to the CTD (C-terminal domain) of POU5F1 embryonic gene
    tumoral fusion      
    t(19;22)(q13;q12) leading to the novel fusion gene EWSR1-ZNF444 in soft tissue myoepithelial carcinoma
    tumoral     --over  
    in liposarcoma
    tumoral fusion      
    with ATF1 is a novel and consistent finding in hyalinizing clear-cell carcinoma of salivary gland
    tumoral fusion      
    with CREB3L1, in small cell osteosarcoma
    tumoral fusion      
    with YY1 genes in mesothelioma with t(14;22)(q32;q12)
    Susceptibility to amyotrophic lateral sclerosis (ALS)
    Variant & Polymorphism other
  • three missense variants in EWSR1 in ALS patients, which were absent in a large number of healthy control individuals (pMID: 22454397)
  • Candidate gene
    Therapy target
    small molecules that disable EWS-FLI1 function with minimal toxicity, in particular sparing hematopoetic stem cells, could potentially provide a valuable adjuvant therapy for patients with Ewing sarcoma family tumors