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    EWSR1 EWS RNA binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 2130, updated on 27-Aug-2016
    Official Symbol
    EWSR1provided by HGNC
    Official Full Name
    EWS RNA binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:3508
    See related
    Ensembl:ENSG00000182944 HPRD:00592; MIM:133450; Vega:OTTHUMG00000151107
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EWS; EWS-FLI1; bK984G1.4
    Summary
    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
    Location:
    22q12.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 22 NC_000022.11 (29268009..29300525)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29663998..29696515)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929638 Neighboring gene RNA, U6 small nuclear 1219, pseudogene Neighboring gene EMI domain containing 1 Neighboring gene uncharacterized LOC105372985 Neighboring gene rhomboid domain containing 3 Neighboring gene growth arrest specific 2 like 1 Neighboring gene RAS like family 10 member A

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Ewing's sarcoma
    MedGen: C0553580 OMIM: 612219 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    NHGRI GWA Catalog
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev interacting protein, Ewing sarcoma breakpoint region 1 (EWSR1), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with EWSR1 is increased by RRE PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding TAS
    Traceable Author Statement
    more info
    PubMed 
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    poly(A) RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    RNA-binding protein EWS
    Names
    EWS RNA-binding protein variant 6
    Ewing sarcoma breakpoint region 1
    Ewings sarcoma EWS-Fli1 (type 1) oncogene

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_023240.1 RefSeqGene

      Range
      5001..37518
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001163285.1NP_001156757.1  RNA-binding protein EWS isoform 3

      See identical proteins and their annotated locations for NP_001156757.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the coding region, compared to variant 1, resulting in an isoform (3) that is shorter than isoform 1.
      Source sequence(s)
      AK225102, AW205707, BC004817, DA013931, DB443651
      Consensus CDS
      CCDS54513.1
      UniProtKB/Swiss-Prot
      Q01844
      Related
      ENSP00000385726, OTTHUMP00000199147, ENST00000406548, OTTHUMT00000321346
      Conserved Domains (4) summary
      smart00360
      Location:362441
      RRM; RNA recognition motif
      cd12533
      Location:360443
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      pfam00641
      Location:517546
      zf-RanBP; Zn-finger in Ran binding protein and others
      sd00025
      Location:521542
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    2. NM_001163286.1NP_001156758.1  RNA-binding protein EWS isoform 4

      See identical proteins and their annotated locations for NP_001156758.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons and uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AK056681, AW205707, DA013931, DA051447, DB443651
      Consensus CDS
      CCDS54514.1
      UniProtKB/Swiss-Prot
      Q01844
      Related
      ENSP00000331699, OTTHUMP00000199150, ENST00000332035, OTTHUMT00000321352
      Conserved Domains (4) summary
      smart00360
      Location:307386
      RRM; RNA recognition motif
      cd12533
      Location:305388
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      pfam00641
      Location:462491
      zf-RanBP; Zn-finger in Ran binding protein and others
      sd00025
      Location:466487
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    3. NM_001163287.1NP_001156759.1  RNA-binding protein EWS isoform 5

      See identical proteins and their annotated locations for NP_001156759.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 5' coding region, and differs in the 3' UTR and in the presence and absence of exons in the 3' coding region, compared to variant 1. The resulting isoform (5) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      BC000527, DA013931, DB443651
      Consensus CDS
      CCDS54512.1
      UniProtKB/Swiss-Prot
      Q01844
      Related
      ENSP00000327456, OTTHUMP00000199148, ENST00000333395, OTTHUMT00000321348
      Conserved Domains (1) summary
      PHA03247
      Location:71206
      PHA03247; large tegument protein UL36; Provisional
    4. NM_005243.3NP_005234.1  RNA-binding protein EWS isoform 2

      See identical proteins and their annotated locations for NP_005234.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AW205707, BC004817, DA013931, DB443651
      Consensus CDS
      CCDS13851.1
      UniProtKB/Swiss-Prot
      Q01844
      Related
      ENSP00000381031, OTTHUMP00000199146, ENST00000397938, OTTHUMT00000321345
      Conserved Domains (4) summary
      smart00360
      Location:363442
      RRM; RNA recognition motif
      cd12533
      Location:361444
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      pfam00641
      Location:518547
      zf-RanBP; Zn-finger in Ran binding protein and others
      sd00025
      Location:522543
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    5. NM_013986.3NP_053733.2  RNA-binding protein EWS isoform 1

      See identical proteins and their annotated locations for NP_053733.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK056309, AW205707, DA013931, DB443651
      Consensus CDS
      CCDS13852.2
      UniProtKB/Swiss-Prot
      Q01844
      Related
      ENSP00000400142, OTTHUMP00000217043, ENST00000414183, OTTHUMT00000358290
      Conserved Domains (4) summary
      COG0724
      Location:355463
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12533
      Location:366449
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:527548
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:523552
      zf-RanBP; Zn-finger in Ran binding protein and others

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p7 Primary Assembly

      Range
      29268009..29300525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028648.1XP_016884137.1  

    2. XM_017028660.1XP_016884149.1  

    3. XM_017028662.1XP_016884151.1  

    4. XM_005261389.3XP_005261446.1  

      Conserved Domains (4) summary
      smart00360
      Location:363442
      RRM; RNA recognition motif
      cd12533
      Location:361444
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      pfam00641
      Location:518560
      zf-RanBP; Zn-finger in Ran binding protein and others
      sd00025
      Location:522556
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    5. XM_017028645.1XP_016884134.1  

    6. XM_017028656.1XP_016884145.1  

    7. XM_017028651.1XP_016884140.1  

    8. XM_017028644.1XP_016884133.1  

    9. XM_017028647.1XP_016884136.1  

    10. XM_017028653.1XP_016884142.1  

    11. XM_005261390.4XP_005261447.1  

      Conserved Domains (4) summary
      smart00360
      Location:307386
      RRM; RNA recognition motif
      cd12533
      Location:305388
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      pfam00641
      Location:462504
      zf-RanBP; Zn-finger in Ran binding protein and others
      sd00025
      Location:466500
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    12. XM_017028655.1XP_016884144.1  

    13. XM_017028663.1XP_016884152.1  

    14. XM_017028659.1XP_016884148.1  

    15. XM_011530000.1XP_011528302.1  

      Conserved Domains (4) summary
      smart00360
      Location:364443
      RRM; RNA recognition motif
      cd12533
      Location:362445
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      pfam00641
      Location:519544
      zf-RanBP; Zn-finger in Ran binding protein and others
      sd00025
      Location:523544
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    16. XM_011529995.2XP_011528297.1  

      Conserved Domains (4) summary
      smart00360
      Location:364443
      RRM; RNA recognition motif
      cd12533
      Location:362445
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      pfam00641
      Location:519561
      zf-RanBP; Zn-finger in Ran binding protein and others
      sd00025
      Location:523557
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    17. XM_011529999.2XP_011528301.1  

      Conserved Domains (4) summary
      smart00360
      Location:364443
      RRM; RNA recognition motif
      cd12533
      Location:362445
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      pfam00641
      Location:519557
      zf-RanBP; Zn-finger in Ran binding protein and others
      sd00025
      Location:523557
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    18. XM_011529997.1XP_011528299.1  

      Conserved Domains (4) summary
      smart00360
      Location:364443
      RRM; RNA recognition motif
      cd12533
      Location:362445
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      pfam00641
      Location:519548
      zf-RanBP; Zn-finger in Ran binding protein and others
      sd00025
      Location:523544
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    19. XM_017028649.1XP_016884138.1  

    20. XM_017028650.1XP_016884139.1  

    21. XM_011529996.2XP_011528298.1  

      Conserved Domains (4) summary
      smart00360
      Location:363442
      RRM; RNA recognition motif
      cd12533
      Location:361444
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      pfam00641
      Location:518560
      zf-RanBP; Zn-finger in Ran binding protein and others
      sd00025
      Location:522556
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    22. XM_017028646.1XP_016884135.1  

    23. XM_011529998.1XP_011528300.1  

      Related
      ENSP00000330516, OTTHUMP00000199149, ENST00000331029, OTTHUMT00000321351
      Conserved Domains (4) summary
      smart00360
      Location:363442
      RRM; RNA recognition motif
      cd12533
      Location:361444
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      pfam00641
      Location:518547
      zf-RanBP; Zn-finger in Ran binding protein and others
      sd00025
      Location:522543
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    24. XM_017028652.1XP_016884141.1  

    25. XM_011530002.2XP_011528304.1  

      Related
      ENSP00000486709, ENST00000629659
      Conserved Domains (4) summary
      smart00360
      Location:291370
      RRM; RNA recognition motif
      cd12533
      Location:289372
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      pfam00641
      Location:446488
      zf-RanBP; Zn-finger in Ran binding protein and others
      sd00025
      Location:450484
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    26. XM_011530001.2XP_011528303.1  

      Conserved Domains (4) summary
      smart00360
      Location:308387
      RRM; RNA recognition motif
      cd12533
      Location:306389
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      pfam00641
      Location:463505
      zf-RanBP; Zn-finger in Ran binding protein and others
      sd00025
      Location:467501
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
    27. XM_017028654.1XP_016884143.1  

    28. XM_017028658.1XP_016884147.1  

    29. XM_017028657.1XP_016884146.1  

    30. XM_017028661.1XP_016884150.1  

    31. XM_017028666.1XP_016884155.1  

    32. XM_017028664.1XP_016884153.1  

      Related
      ENSP00000353204, OTTHUMP00000199157, ENST00000360091, OTTHUMT00000321363
    33. XM_017028665.1XP_016884154.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      29623296..29655935
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)