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    ETV1 ets variant 1 [ Homo sapiens (human) ]

    Gene ID: 2115, updated on 9-Jun-2013
    Official Symbol
    ETV1provided by HGNC
    Official Full Name
    ets variant 1provided by HGNC
    Primary source
    HGNC:3490
    See related
    Ensembl:ENSG00000006468; HPRD:02765; MIM:600541; Vega:OTTHUMG00000152403
    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
    ER81
    Summary
    This gene encodes a member of the ETS (E twenty-six) family of transcription factors. The ETS proteins regulate many target genes that modulate biological processes like cell growth, angiogenesis, migration, proliferation and differentiation. All ETS proteins contain an ETS DNA-binding domain that binds to DNA sequences containing the consensus 5'-CGGA[AT]-3'. The protein encoded by this gene contains a conserved short acidic transactivation domain (TAD) in the N-terminal region, in addition to the ETS DNA-binding domain in the C-terminal region. This gene is involved in chromosomal translocations, which result in multiple fusion proteins including EWS-ETV1 in Erwing sarcoma and at least 10 ETV1 partners (see PMID: 19657377, Table 1) in prostate cancer. In addition to chromosomal rearrangement, this gene is overexpressed in prostate cancer, melanoma and gastrointestinal stromal tumor. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
    Location :
    7p21.3
    Sequence :
    Chromosome: 7; NC_000007.13 (13930854..14031050, complement)
    See ETV1 in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein, X-linked 2 pseudogene 4 Neighboring gene ribosomal protein L26 pseudogene 21 Neighboring gene sodium-dependent phosphate transport protein 2B pseudogene Neighboring gene ribosomal protein L6 pseudogene 21

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Etv1 inactivation reveals proprioceptor subclasses that reflect the level of NT3 expression in muscle targets. de Nooij JC, et al. Neuron, 2013 Mar 20. PMID 23522042.
    2. ETV1 directs androgen metabolism and confers aggressive prostate cancer in targeted mice and patients. Baena E, et al. Genes Dev, 2013 Mar 15. PMID 23512661.
    3. A synthetic interaction screen identifies factors selectively required for proliferation and TERT transcription in p53-deficient human cancer cells. Xie L, et al. PLoS Genet, 2012. PMID 23284306.
    4. ER81-shRNA inhibits growth of triple-negative human breast cancer cell line MDA-MB-231 in vivo and in vitro. Chen Y, et al. Asian Pac J Cancer Prev, 2012. PMID 22901226.
    5. ETV1, 4 and 5: an oncogenic subfamily of ETS transcription factors. Oh S, et al. Biochim Biophys Acta, 2012 Aug. PMID 22425584.

    See all (55) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Proprioceptive sensory neurons innervating hypaxial and axial muscles depend critically on Etv1 for survival.
      Title: Etv1 inactivation reveals proprioceptor subclasses that reflect the level of NT3 expression in muscle targets.
    2. Our collective results identify a regulatory pathway involving ETV1, ATR, and TERT that is preferentially important for proliferation of diverse p53- cancer cells
      Title: A synthetic interaction screen identifies factors selectively required for proliferation and TERT transcription in p53-deficient human cancer cells.
    3. confirmed the association of an ETV1 expression signature with aggressive disease and poorer outcome in patient data
      Title: ETV1 directs androgen metabolism and confers aggressive prostate cancer in targeted mice and patients.
    4. Reviews evidence for a role of ETV1, 4 and 5 as oncoproteins and describe modes of their action.
      Title: ETV1, 4 and 5: an oncogenic subfamily of ETS transcription factors.
    5. High ER81 expression is associated with breast cancer.
      Title: ER81-shRNA inhibits growth of triple-negative human breast cancer cell line MDA-MB-231 in vivo and in vitro.
    6. Data show that MAPKAP kinase 2 overexpression is associated with expression of p38 MAP kinase and ETV1 in gastrointestinal stromal tumors (GIST).
      Title: MAPKAP kinase 2 overexpression influences prognosis in gastrointestinal stromal tumors and associates with copy number variations on chromosome 1 and expression of p38 MAP kinase and ETV1.
    7. Pea3 and Erm, but not Er81, play an important role in the progression of esophageal squamous cell carcinoma
      Title: The role of Pea3 group transcription factors in esophageal squamous cell carcinoma.
    8. The coordinate expression of Etv1 with POMC cell differentiation and its interaction with the highly cell-restricted Tpit factor indicate that Etv1 participates in a combinatorial code for pituitary cell-specific gene expression.
      Title: The Ets factor Etv1 interacts with Tpit protein for pituitary pro-opiomelanocortin (POMC) gene transcription.
    9. ERG and ETV1 mediated prostate cancer cell invasion is inhibited by YK-4-279
      Title: YK-4-279 inhibits ERG and ETV1 mediated prostate cancer cell invasion.
    10. High ER81 expression is associated with gastric adenocarcinoma.
      Title: PEA3/ETV4-related transcription factors coupled with active ERK signalling are associated with poor prognosis in gastric adenocarcinoma.
    Submit: New GeneRIF Correction See all (30)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    NP_004947.2 AAB92368.1 NCOA3    BIND  PubMed ACTR interacts with ER81. 
    P50549 Q09472 EP300    HPRD  PubMed  
    P50549 P11308 ERG    HPRD  PubMed  
    P50549 Q92831 KAT2B    HPRD  PubMed  
    P50549 P16389 KCNA2    HPRD  PubMed  
    P50549 P49137 MAPKAPK2    HPRD  PubMed  
    P50549 P17612 PRKACA    HPRD  PubMed  
    P50549 Q15418 RPS6KA1    HPRD  PubMed  
    P50549 O75582 RPS6KA5    HPRD  PubMed  
    BioGRID:108416 BioGRID:107336 CCND3    BioGRID  PubMed Two-hybrid 
    BioGRID:108416 BioGRID:108347 EP300    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:108416 BioGRID:114375 KAT2B    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity; Reconstituted Complex 
    BioGRID:108416 BioGRID:107819 MAPK14    BioGRID  PubMed Biochemical Activity 
    BioGRID:108416 BioGRID:111581 MAPK3    BioGRID  PubMed Biochemical Activity 
    BioGRID:108416 BioGRID:111585 MAPK8    BioGRID  PubMed Biochemical Activity 
    BioGRID:108416 BioGRID:114683 MAPKAPK2    BioGRID  PubMed Biochemical Activity 
    BioGRID:108416 BioGRID:130282 NSMCE2    BioGRID  PubMed Biochemical Activity 
    BioGRID:108416 BioGRID:122136 RFWD2    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:108416 BioGRID:114676 RPS6KA5    BioGRID  PubMed Biochemical Activity 
    BioGRID:108416 BioGRID:249643 Rps6ka1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108416 BioGRID:112566 SPI1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:108416 BioGRID:113188 SUMO1    BioGRID  PubMed Biochemical Activity 
    BioGRID:108416 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC104699, MGC120533, MGC120534, DKFZp781L0674

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		  
    sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    sequence-specific DNA binding transcription factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    mechanosensory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    muscle organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    peripheral nervous system neuron development TAS
    Traceable Author Statement
    more info
    		  
    positive regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    transcription from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    ETS translocation variant 1
    Names
    ETS translocation variant 1
    ets variant gene 1
    ets-related protein 81

    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_029795.1 RefSeqGene

      Range
      5001..105197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001163147.1 → NP_001156619.1  ETS translocation variant 1 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR and an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a. This isoform contains the N-terminal TAD.
      Source sequence(s)
      AB209202, AC004857, BC098403, BU737178, DA114165
      Consensus CDS
      CCDS55087.1
      UniProtKB/Swiss-Prot
      P50549
      Conserved Domains (2) summary
      pfam00178
      Location:312 – 394
      Blast Score: 412
      Ets; Ets-domain
      pfam04621
      Location:1 – 310
      Blast Score: 1017
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    2. NM_001163148.1 → NP_001156620.1  ETS translocation variant 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents use of an alternate promoter and 5' UTR, and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (c) lacks an internal segment near the N-terminus, compared to isoform a. Both variants 3 and 4 encode the same isoform. This isoform contains a truncated TAD.
      Source sequence(s)
      AC004857, AK294755, BU737178, DB093597, DB099964
      Consensus CDS
      CCDS55086.1
      UniProtKB/Swiss-Prot
      P50549
      Related
      ENSP00000242066, ENST00000242066
      Conserved Domains (2) summary
      pfam00178
      Location:317 – 399
      Blast Score: 413
      Ets; Ets-domain
      pfam04621
      Location:1 – 315
      Blast Score: 1016
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    3. NM_001163149.1 → NP_001156621.1  ETS translocation variant 1 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternate promoter and 5' UTR, and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (c) lacks an internal segment near the N-terminus, compared to isoform a. Both variants 3 and 4 encode the same isoform. This isoform contains a truncated TAD.
      Source sequence(s)
      AC004857, BC098403, BU737178, X87175
      Consensus CDS
      CCDS55086.1
      UniProtKB/Swiss-Prot
      P50549
      Related
      ENSP00000340853, ENST00000343495
      Conserved Domains (2) summary
      pfam00178
      Location:317 – 399
      Blast Score: 413
      Ets; Ets-domain
      pfam04621
      Location:1 – 315
      Blast Score: 1016
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    4. NM_001163150.1 → NP_001156622.1  ETS translocation variant 1 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) represents use of an alternate promoter, 5' UTR, and 5' coding region, compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus, compared to isoform a. This isoform lacks major part of the N-terminal TAD.
      Source sequence(s)
      AC004857, AK294572, BC098403, BU737178, DC308837
      Consensus CDS
      CCDS55085.1
      UniProtKB/TrEMBL
      B7Z2C9
      UniProtKB/Swiss-Prot
      P50549
      Conserved Domains (2) summary
      pfam00178
      Location:295 – 377
      Blast Score: 420
      Ets; Ets-domain
      pfam04621
      Location:21 – 293
      Blast Score: 838
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    5. NM_001163151.1 → NP_001156623.1  ETS translocation variant 1 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) represents use of an alternate promoter, 5' UTR, 5' coding region, and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (e) has a shorter and distinct N-terminus, compared to isoform a. This isoform lacks the N-terminal TAD.
      Source sequence(s)
      AC004857, AK299693, BU737178, DC308837
      Consensus CDS
      CCDS55083.1
      UniProtKB/Swiss-Prot
      P50549
      Related
      ENSP00000411626, ENST00000420159
      Conserved Domains (2) summary
      pfam00178
      Location:277 – 359
      Blast Score: 419
      Ets; Ets-domain
      pfam04621
      Location:21 – 275
      Blast Score: 771
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    6. NM_001163152.1 → NP_001156624.1  ETS translocation variant 1 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) represents use of an alternate promoter, 5' UTR, 5' coding region, and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (f) has a shorter and distinct N-terminus and lacks an internal segment, compared to isoform a. This isoform lacks major part of the N-terminal TAD.
      Source sequence(s)
      AC004857, AK299693, AK316007, BU737178, DC308837
      Consensus CDS
      CCDS55084.1
      UniProtKB/Swiss-Prot
      P50549
      Related
      ENSP00000382293, ENST00000399357
      Conserved Domains (2) summary
      pfam00178
      Location:232 – 314
      Blast Score: 415
      Ets; Ets-domain
      pfam04621
      Location:21 – 230
      Blast Score: 593
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    7. NM_004956.4 → NP_004947.2  ETS translocation variant 1 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). This isoform contains the N-terminal TAD.
      Source sequence(s)
      AC004857, BC098403, BU737178, DA114165
      Consensus CDS
      CCDS55088.1
      UniProtKB/Swiss-Prot
      P50549
      Related
      ENSP00000405327, OTTHUMP00000201615, ENST00000430479, OTTHUMT00000326111
      Conserved Domains (2) summary
      pfam00178
      Location:335 – 417
      Blast Score: 414
      Ets; Ets-domain
      pfam04621
      Location:1 – 333
      Blast Score: 1111
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p10 Primary Assembly

      Range
      13930854..14031050, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      13813063..13913249, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      13981766..14081945, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018918.1 Alternate CHM1_1.0

      Range
      13905710..14005895, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic AACC02000009.1 (1539482..1639661) None
    genomic ABBA01056596.1 (30631..130817) None
    genomic AC004857.1 AAC62435.1
    genomic AC004909.2 (130697..132050) None
    genomic AF109632.1 AAD29877.1
      AAD29878.1
    genomic AMYH01017080.1 (104952..205137) None
    genomic CH236948.1 EAL24294.1
    genomic CH471073.1 EAW93654.1
      EAW93655.1
      EAW93656.1
      EAW93657.1
      EAW93658.1
      EAW93659.1
      EAW93660.1
      EAW93661.1
      EAW93662.1
    mRNA AB209202.1 BAD92439.1
    mRNA AF070641.1 None
    mRNA AK055368.1 None
    mRNA AK293802.1 BAH11600.1
    mRNA AK294572.1 BAH11815.1
    mRNA AK294755.1 BAH11870.1
    mRNA AK299693.1 BAH13104.1
    mRNA AK309190.1 None
    mRNA AK311089.1 None
    mRNA AK311134.1 None
    mRNA AK311194.1 None
    mRNA AK311707.1 None
    mRNA AK312863.1 BAG35715.1
    mRNA AK316007.1 BAH14378.1
    mRNA BC042950.2 None
    mRNA BC045776.1 None
    mRNA BC098403.1 AAH98403.1
    mRNA BC106762.1 AAI06763.1
    mRNA BC106763.1 AAI06764.1
    mRNA BF346325.1 None
    mRNA BU737178.1 None
    mRNA CN396908.1 None
    mRNA CN396911.1 None
    mRNA CR627389.1 CAH10484.1
    mRNA DA114165.1 None
    mRNA DB093597.1 None
    mRNA DB099964.1 None
    mRNA DC308837.1 None
    mRNA EF632110.1 None
    mRNA U17163.1 AAA79844.1
    mRNA X87175.1 CAA60642.1
    other-genetic EU446473.1 ABZ92002.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P50549.2 GenPept UniProtKB/Swiss-Prot:P50549

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • 3D structures
        3D structure of a gene
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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