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FLASH GENE
Symbol EWSR1 contributors: mct - updated : 14-12-2013
HGNC name Ewing sarcoma breakpoint region 1
HGNC id 3508
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunespleen   highly
 thymus   highly
 tonsils   highly
Urinarybladder   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • 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
  • HOMOLOGY
    Homologene
    FAMILY
  • TET (TLS/EWS/TAF15) family of RNA- and DNA-binding proteins
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    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
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • 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
    REGULATION
    ASSOCIATED DISORDERS
    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
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerhemopathy 
    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
    ANIMAL & CELL MODELS