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

Gene ID: 2130, updated on 24-Aug-2015
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
See EWSR1 in Epigenomics, MapViewer
Location:
22q12.2
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 EMI domain containing 1 Neighboring gene uncharacterized LOC105372985 Neighboring gene uncharacterized LOC105372986 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

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
 
nucleoplasm 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:523542
    zf-RanBP2; Zn binding site [ion binding]
  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
    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:468487
    zf-RanBP2; Zn binding site [ion binding]
  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:524543
    zf-RanBP2; Zn binding site [ion binding]
  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
    smart00360
    Location:368447
    RRM; RNA recognition motif
    cd12533
    Location:366449
    RRM_EWS; RNA recognition motif in vertebrate Ewing Sarcoma Protein (EWS)
    pfam00641
    Location:523552
    zf-RanBP; Zn-finger in Ran binding protein and others
    sd00025
    Location:529548
    zf-RanBP2; Zn binding site [ion binding]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005261389.2XP_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:524556
    zf-RanBP2; Zn binding site [ion binding]
  2. XM_005261390.3XP_005261447.1  

    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:462504
    zf-RanBP; Zn-finger in Ran binding protein and others
    sd00025
    Location:468500
    zf-RanBP2; Zn binding site [ion binding]
  3. XM_011529995.1XP_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:525557
    zf-RanBP2; Zn binding site [ion binding]
  4. XM_011529999.1XP_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:525557
    zf-RanBP2; Zn binding site [ion binding]
  5. 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:525544
    zf-RanBP2; Zn binding site [ion binding]
  6. XM_011529996.1XP_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:524556
    zf-RanBP2; Zn binding site [ion binding]
  7. XM_011530002.1XP_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:452484
    zf-RanBP2; Zn binding site [ion binding]
  8. XM_011530001.1XP_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:469501
    zf-RanBP2; Zn binding site [ion binding]
  9. 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:525544
    zf-RanBP2; Zn binding site [ion binding]
  10. 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:524543
    zf-RanBP2; Zn binding site [ion binding]

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 Alternate CHM1_1.1

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