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

    Gene ID: 2130, updated on 12-Aug-2022

    Summary

    Official Symbol
    EWSR1provided by HGNC
    Official Full Name
    EWS RNA binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:3508
    See related
    Ensembl:ENSG00000182944 MIM:133450; AllianceGenome:HGNC:3508
    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]
    Expression
    Ubiquitous expression in testis (RPKM 27.8), bone marrow (RPKM 27.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EWSR1 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29268268..29300521)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29731759..29763936)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29664257..29696511)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes 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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    HIV-1 interactions

    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
    Vpr vpr HIV-1 Vpr upregulates EWSR1 in HeLa cells within 12 hours of exposure PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription coregulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA-templated transcription elongation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Cajal body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    RNA-binding protein EWS
    Names
    Ewing sarcoma breakpoint region 1
    Ewings sarcoma EWS-Fli1 (type 1) oncogene

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5260..37514
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001163285.2NP_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, DB443651
      Consensus CDS
      CCDS54513.1
      UniProtKB/Swiss-Prot
      Q01844
      Related
      ENSP00000385726.1, ENST00000406548.5
      Conserved Domains (4) summary
      COG0724
      Location:349457
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12533
      Location:360443
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:521542
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:517546
      zf-RanBP; Zn-finger in Ran binding protein and others
    2. NM_001163286.2NP_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, DA051447, DB443651
      Consensus CDS
      CCDS54514.1
      UniProtKB/Swiss-Prot
      Q01844
      Related
      ENSP00000331699.6, ENST00000332035.10
      Conserved Domains (4) summary
      COG0724
      Location:294402
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12533
      Location:305388
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:466487
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:462491
      zf-RanBP; Zn-finger in Ran binding protein and others
    3. NM_001163287.2NP_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, DB443651
      Consensus CDS
      CCDS54512.1
      UniProtKB/Swiss-Prot
      Q01844
      Related
      ENSP00000327456.6, ENST00000333395.10
      Conserved Domains (1) summary
      PHA03247
      Location:71206
      PHA03247; large tegument protein UL36; Provisional
    4. NM_005243.4NP_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, DB443651
      Consensus CDS
      CCDS13851.1
      UniProtKB/Swiss-Prot
      Q01844, Q9BWA2
      Related
      ENSP00000381031.2, ENST00000397938.7
      Conserved Domains (4) summary
      COG0724
      Location:350458
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12533
      Location:361444
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:522543
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:518547
      zf-RanBP; Zn-finger in Ran binding protein and others
    5. NM_013986.4NP_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, DB443651
      Consensus CDS
      CCDS13852.2
      UniProtKB/Swiss-Prot
      Q01844
      Related
      ENSP00000400142.2, ENST00000414183.6
      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 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      29268268..29300521
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529995.4XP_011528297.1  RNA-binding protein EWS isoform X1

      Conserved Domains (4) summary
      COG0724
      Location:351459
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12533
      Location:362445
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:523557
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:519561
      zf-RanBP; Zn-finger in Ran binding protein and others
    2. XM_011529999.4XP_011528301.1  RNA-binding protein EWS isoform X7

      Conserved Domains (4) summary
      COG0724
      Location:351459
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12533
      Location:362445
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:523557
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:519557
      zf-RanBP; Zn-finger in Ran binding protein and others
    3. XM_011529997.3XP_011528299.1  RNA-binding protein EWS isoform X5

      Conserved Domains (4) summary
      COG0724
      Location:351459
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12533
      Location:362445
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:523544
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:519548
      zf-RanBP; Zn-finger in Ran binding protein and others
    4. XM_011530000.3XP_011528302.1  RNA-binding protein EWS isoform X11

      Conserved Domains (4) summary
      COG0724
      Location:351459
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12533
      Location:362445
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:523544
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:519544
      zf-RanBP; Zn-finger in Ran binding protein and others
    5. XM_017028649.3XP_016884138.1  RNA-binding protein EWS isoform X15

      Conserved Domains (4) summary
      smart00547
      Location:480519
      ZnF_RBZ; Zinc finger domain
      PHA03247
      Location:72207
      PHA03247; large tegument protein UL36; Provisional
      sd00025
      Location:482516
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      cl17169
      Location:364431
      RRM_SF; RNA recognition motif (RRM) superfamily
    6. XM_047441190.1XP_047297146.1  RNA-binding protein EWS isoform X26

    7. XM_017028650.3XP_016884139.1  RNA-binding protein EWS isoform X18

    8. XM_047441192.1XP_047297148.1  RNA-binding protein EWS isoform X31

    9. XM_011529996.4XP_011528298.1  RNA-binding protein EWS isoform X3

      Conserved Domains (4) summary
      COG0724
      Location:350458
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12533
      Location:361444
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:522556
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:518560
      zf-RanBP; Zn-finger in Ran binding protein and others
    10. XM_017028646.3XP_016884135.1  RNA-binding protein EWS isoform X9

    11. XM_011529998.3XP_011528300.1  RNA-binding protein EWS isoform X6

      Conserved Domains (4) summary
      COG0724
      Location:350458
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12533
      Location:361444
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:522543
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:518547
      zf-RanBP; Zn-finger in Ran binding protein and others
    12. XM_047441187.1XP_047297143.1  RNA-binding protein EWS isoform X13

    13. XM_017028652.3XP_016884141.1  RNA-binding protein EWS isoform X20

    14. XM_011530002.4XP_011528304.1  RNA-binding protein EWS isoform X33

      Conserved Domains (4) summary
      COG0724
      Location:278386
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12533
      Location:289372
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:450484
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:446488
      zf-RanBP; Zn-finger in Ran binding protein and others
    15. XM_024452180.2XP_024307948.1  RNA-binding protein EWS isoform X40

      Conserved Domains (4) summary
      cd12533
      Location:289372
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00030
      Location:465484
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:446484
      zf-RanBP; Zn-finger in Ran binding protein and others
      cl26464
      Location:72207
      Atrophin-1; Atrophin-1 family
    16. XM_047441195.1XP_047297151.1  RNA-binding protein EWS isoform X36

      UniProtKB/TrEMBL
      A0A0D9SFL3
      Related
      ENSP00000486709.1, ENST00000629659.2
    17. XM_047441199.1XP_047297155.1  RNA-binding protein EWS isoform X44

    18. XM_011530001.3XP_011528303.1  RNA-binding protein EWS isoform X22

      Conserved Domains (4) summary
      COG0724
      Location:295403
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12533
      Location:306389
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:467501
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:463505
      zf-RanBP; Zn-finger in Ran binding protein and others
    19. XM_047441191.1XP_047297147.1  RNA-binding protein EWS isoform X28

    20. XM_017028654.2XP_016884143.1  RNA-binding protein EWS isoform X24

    21. XM_017028658.2XP_016884147.1  RNA-binding protein EWS isoform X29

    22. XM_005261389.5XP_005261446.1  RNA-binding protein EWS isoform X2

      Conserved Domains (4) summary
      COG0724
      Location:350458
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12533
      Location:361444
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:522556
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:518560
      zf-RanBP; Zn-finger in Ran binding protein and others
    23. XM_017028645.3XP_016884134.1  RNA-binding protein EWS isoform X8

    24. XM_047441186.1XP_047297142.1  RNA-binding protein EWS isoform X12

    25. XM_047441188.1XP_047297144.1  RNA-binding protein EWS isoform X16

    26. XM_017028656.3XP_016884145.1  RNA-binding protein EWS isoform X27

    27. XM_017028651.3XP_016884140.1  RNA-binding protein EWS isoform X19

    28. XM_017028644.3XP_016884133.1  RNA-binding protein EWS isoform X4

    29. XM_017028647.3XP_016884136.1  RNA-binding protein EWS isoform X10

    30. XM_017028648.3XP_016884137.1  RNA-binding protein EWS isoform X14

    31. XM_047441189.1XP_047297145.1  RNA-binding protein EWS isoform X17

    32. XM_017028653.3XP_016884142.1  RNA-binding protein EWS isoform X21

    33. XM_017028660.3XP_016884149.1  RNA-binding protein EWS isoform X32

    34. XM_047441193.1XP_047297149.1  RNA-binding protein EWS isoform X34

    35. XM_047441198.1XP_047297154.1  RNA-binding protein EWS isoform X41

    36. XM_047441196.1XP_047297152.1  RNA-binding protein EWS isoform X37

      Related
      ENSP00000330896.7, ENST00000332050.10
    37. XM_024452181.2XP_024307949.1  RNA-binding protein EWS isoform X42

      Conserved Domains (4) summary
      cd12533
      Location:288371
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:449470
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:445470
      zf-RanBP; Zn-finger in Ran binding protein and others
      cl26464
      Location:71206
      Atrophin-1; Atrophin-1 family
    38. XM_047441200.1XP_047297156.1  RNA-binding protein EWS isoform X45

    39. XM_005261390.5XP_005261447.1  RNA-binding protein EWS isoform X23

      Conserved Domains (4) summary
      COG0724
      Location:294402
      RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
      cd12533
      Location:305388
      RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
      sd00025
      Location:466500
      zf-RanBP2; RanBP2-type Zn finger [structural motif]
      pfam00641
      Location:462504
      zf-RanBP; Zn-finger in Ran binding protein and others
    40. XM_047441194.1XP_047297150.1  RNA-binding protein EWS isoform X35

    41. XM_047441197.1XP_047297153.1  RNA-binding protein EWS isoform X38

    42. XM_017028655.2XP_016884144.1  RNA-binding protein EWS isoform X25

    43. XM_017028659.2XP_016884148.1  RNA-binding protein EWS isoform X30

    44. XM_017028662.3XP_016884151.1  RNA-binding protein EWS isoform X39

    45. XM_017028663.2XP_016884152.1  RNA-binding protein EWS isoform X43

    46. XM_047441201.1XP_047297157.1  RNA-binding protein EWS isoform X46

    47. XM_047441202.1XP_047297158.1  RNA-binding protein EWS isoform X47

      Related
      ENSP00000412670.2, ENST00000437155.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      29731759..29763936
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)