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

Gene ID: 2130, updated on 15-Apr-2019

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
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

Genomic context

See EWSR1 in Genome Data Viewer
Location:
22q12.2
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 FunctionsWhat's a GeneRIF?

Phenotypes

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

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
regulation of 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    ENSP00000385726.1, 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_001163286.1NP_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
    ENSP00000331699.6, 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_001163287.1NP_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
    ENSP00000327456.6, ENST00000333395.10
    Conserved Domains (1) summary
    cl26464
    Location:71206
    Atrophin-1; Atrophin-1 family
  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
    ENSP00000381031.2, ENST00000397938.6
    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_013986.3NP_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
    ENSP00000400142.2, 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 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005261390.4XP_005261447.1  RNA-binding protein EWS isoform X19

    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
  2. XM_017028655.1XP_016884144.1  RNA-binding protein EWS isoform X21

  3. XM_017028663.1XP_016884152.1  RNA-binding protein EWS isoform X32

  4. XM_017028659.1XP_016884148.1  RNA-binding protein EWS isoform X25

  5. XM_017028662.2XP_016884151.1  RNA-binding protein EWS isoform X29

  6. XM_017028656.2XP_016884145.1  RNA-binding protein EWS isoform X22

  7. XM_017028660.2XP_016884149.1  RNA-binding protein EWS isoform X26

  8. XM_024452181.1XP_024307949.1  RNA-binding protein EWS isoform X31

    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
  9. XM_017028657.2XP_016884146.1  RNA-binding protein EWS isoform X23

  10. XM_017028661.2XP_016884150.1  RNA-binding protein EWS isoform X28

  11. XM_017028645.2XP_016884134.1  RNA-binding protein EWS isoform X8

  12. XM_017028651.2XP_016884140.1  RNA-binding protein EWS isoform X15

  13. XM_017028653.2XP_016884142.1  RNA-binding protein EWS isoform X17

  14. XM_017028666.2XP_016884155.1  RNA-binding protein EWS isoform X34

  15. XM_017028644.2XP_016884133.1  RNA-binding protein EWS isoform X4

  16. XM_005261389.4XP_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
  17. XM_017028647.2XP_016884136.1  RNA-binding protein EWS isoform X10

  18. XM_017028648.2XP_016884137.1  RNA-binding protein EWS isoform X12

  19. XM_011530001.2XP_011528303.1  RNA-binding protein EWS isoform X18

    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
  20. XM_017028654.1XP_016884143.1  RNA-binding protein EWS isoform X20

  21. XM_017028664.2XP_016884153.1  RNA-binding protein EWS isoform X33

    Related
    ENSP00000353204.3, ENST00000360091.3
  22. XM_017028658.1XP_016884147.1  RNA-binding protein EWS isoform X24

  23. XM_017028665.2XP_016884154.1  RNA-binding protein EWS isoform X34

  24. XM_011530000.2XP_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
  25. XM_017028646.2XP_016884135.1  RNA-binding protein EWS isoform X9

  26. XM_024452180.1XP_024307948.1  RNA-binding protein EWS isoform X30

    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
  27. XM_011529995.3XP_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
  28. XM_011529999.3XP_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
  29. XM_011529997.2XP_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
  30. XM_017028649.2XP_016884138.1  RNA-binding protein EWS isoform X13

  31. XM_017028650.2XP_016884139.1  RNA-binding protein EWS isoform X14

  32. XM_011529998.2XP_011528300.1  RNA-binding protein EWS isoform X6

    Related
    ENSP00000330516.7, ENST00000331029.11
    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
  33. XM_017028652.2XP_016884141.1  RNA-binding protein EWS isoform X16

  34. XM_011530002.3XP_011528304.1  RNA-binding protein EWS isoform X27

    Related
    ENSP00000486709.1, ENST00000629659.2
    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
  35. XM_011529996.3XP_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

RNA

  1. XR_002958676.1 RNA Sequence

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