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Aliases for ETV1 Gene

Aliases for ETV1 Gene

  • Ets Variant 1 2 3
  • Ets-Related Protein 81 3 4
  • Ets Variant Gene 1 2 3
  • ER81 3 4
  • ETS Translocation Variant 1 3

External Ids for ETV1 Gene

Previous GeneCards Identifiers for ETV1 Gene

  • GC07M013579
  • GC07M013679
  • GC07M013708
  • GC07M013897
  • GC07M013813

Summaries for ETV1 Gene

Entrez Gene Summary for ETV1 Gene

  • 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]

GeneCards Summary for ETV1 Gene

ETV1 (Ets Variant 1) is a Protein Coding gene. Diseases associated with ETV1 include ewing sarcoma and gastrointestinal stromal tumor. Among its related pathways are Akt Signaling and Transcriptional misregulation in cancer. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is ETV2.

UniProtKB/Swiss-Prot for ETV1 Gene

  • Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5-CGGA[AT]-3

Gene Wiki entry for ETV1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETV1 Gene

Genomics for ETV1 Gene

Regulatory Elements for ETV1 Gene

Genomic Location for ETV1 Gene

13,891,228 bp from pter
13,991,425 bp from pter
100,198 bases
Minus strand

Genomic View for ETV1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ETV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETV1 Gene

Proteins for ETV1 Gene

  • Protein details for ETV1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ETS translocation variant 1
    Protein Accession:
    Secondary Accessions:
    • A4D118
    • B2R768
    • B7Z2I4
    • B7Z618
    • B7Z9P2
    • C9JT37
    • E9PHB1
    • F5GXR2
    • O75849
    • Q4KMQ6
    • Q59GA7
    • Q6AI30
    • Q9UQ71
    • Q9Y636

    Protein attributes for ETV1 Gene

    477 amino acids
    Molecular mass:
    55131 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAD92439.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ETV1 Gene

    Alternative splice isoforms for ETV1 Gene

neXtProt entry for ETV1 Gene

Proteomics data for ETV1 Gene at MOPED

Post-translational modifications for ETV1 Gene

  • Phosphorylated at Ser-191 and Ser-216 by RPS6KA1 and RPS6KA5; phosphorylation activates transcriptional activity.
  • Sumoylated.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ETV1 Gene

Domains for ETV1 Gene

Protein Domains for ETV1 Gene

Suggested Antigen Peptide Sequences for ETV1 Gene

Graphical View of Domain Structure for InterPro Entry



  • P50549
  • Contains 1 ETS DNA-binding domain.
  • Belongs to the ETS family.
genes like me logo Genes that share domains with ETV1: view

No data available for Gene Families for ETV1 Gene

Function for ETV1 Gene

Molecular function for ETV1 Gene

GENATLAS Biochemistry: ETS variant 1,transcription factor of the ETS family,divergent member of the winged helix-turn-helix superfamily,fused with EWS in translocation t(7;22)(p22;q12)
UniProtKB/Swiss-Prot Function: Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5-CGGA[AT]-3

Gene Ontology (GO) - Molecular Function for ETV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 12750007
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IBA --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IDA 12750007
GO:0003700 sequence-specific DNA binding transcription factor activity TAS 7700648
GO:0005515 protein binding IPI 21575865
genes like me logo Genes that share ontologies with ETV1: view
genes like me logo Genes that share phenotypes with ETV1: view

Animal Models for ETV1 Gene

MGI Knock Outs for ETV1:

miRNA for ETV1 Gene

miRTarBase miRNAs that target ETV1
Targeting motifs for ETV1 Gene
HOMER Transcription Factor Regulatory Elements motif ETV1
  • Consensus sequence: AACCGGAAGT Submotif: canonical Cell Type: GIST48 GeoId: GSE22441

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting for ETV1 Gene

Localization for ETV1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETV1 Gene

Subcellular locations from

Jensen Localization Image for ETV1 Gene COMPARTMENTS Subcellular localization image for ETV1 gene
Compartment Confidence
nucleus 4

Gene Ontology (GO) - Cellular Components for ETV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with ETV1: view

Pathways for ETV1 Gene

genes like me logo Genes that share pathways with ETV1: view

Pathways by source for ETV1 Gene

1 Qiagen pathway for ETV1 Gene
1 BioSystems pathway for ETV1 Gene
1 KEGG pathway for ETV1 Gene
1 GeneGo (Thomson Reuters) pathway for ETV1 Gene

Gene Ontology (GO) - Biological Process for ETV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
GO:0006366 transcription from RNA polymerase II promoter TAS 7700648
GO:0007411 axon guidance IEA --
GO:0007517 muscle organ development IEA --
genes like me logo Genes that share ontologies with ETV1: view

Compounds for ETV1 Gene

(3) Novoseek inferred chemical compound relationships for ETV1 Gene

Compound -log(P) Hits PubMed IDs
testosterone 19.5 10
tyrosine 7.96 1
serine 1.82 3
genes like me logo Genes that share compounds with ETV1: view

Transcripts for ETV1 Gene

Unigene Clusters for ETV1 Gene

Ets variant 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ETV1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b
SP1: - - -
SP2: - - - - - -
SP3: - - - -
SP4: - - - - - -
SP5: -

Relevant External Links for ETV1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ETV1 Gene

mRNA expression in normal human tissues for ETV1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ETV1 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (15.4) and Brain - Cerebellum (11.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ETV1 Gene

SOURCE GeneReport for Unigene cluster for ETV1 Gene Hs.22634

mRNA Expression by UniProt/SwissProt for ETV1 Gene

Tissue specificity: Very highly expressed in brain, highly expressed in testis, lung and heart, moderately in spleen, small intestine, pancreas and colon, weakly in liver, prostate and thymus, very weakly in skeletal muscle, kidney and ovary and not in placenta and peripheral blood leukocytes
genes like me logo Genes that share expressions with ETV1: view

Orthologs for ETV1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ETV1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ETV1 35
  • 99.79 (n)
  • 99.79 (a)
ETV1 36
  • 100 (a)
(Bos Taurus)
Mammalia ETV1 35
  • 95.18 (n)
  • 98.11 (a)
ETV1 36
  • 98 (a)
(Canis familiaris)
Mammalia ETV1 35
  • 95.32 (n)
  • 98.53 (a)
ETV1 36
  • 99 (a)
(Mus musculus)
Mammalia Etv1 35
  • 93.71 (n)
  • 97.9 (a)
Etv1 16
Etv1 36
  • 98 (a)
(Monodelphis domestica)
Mammalia ETV1 36
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia ETV1 36
  • 88 (a)
(Rattus norvegicus)
Mammalia Etv1 35
  • 93.78 (n)
  • 97.69 (a)
(Gallus gallus)
Aves ER81 36
  • 95 (a)
ETV1 35
  • 87.91 (n)
  • 94.97 (a)
(Anolis carolinensis)
Reptilia ETV1 36
  • 94 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1665 35
tropical clawed frog
(Silurana tropicalis)
Amphibia etv1 35
  • 82.46 (n)
  • 88.05 (a)
MGC75591 35
(Danio rerio)
Actinopterygii etv1 35
  • 72.27 (n)
  • 74.22 (a)
etv1 36
  • 76 (a)
fruit fly
(Drosophila melanogaster)
Insecta Ets96B 36
  • 23 (a)
Ets96B 37
  • 87 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2851 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5939 36
  • 16 (a)
Species with no ortholog for ETV1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ETV1 Gene

Gene Tree for ETV1 (if available)
Gene Tree for ETV1 (if available)

Paralogs for ETV1 Gene

Paralogs for ETV1 Gene

genes like me logo Genes that share paralogs with ETV1: view

Variants for ETV1 Gene

Sequence variations from dbSNP and Humsavar for ETV1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs41503 -- 13,993,031(-) GTGCA(A/T)TTTCT upstream-variant-2KB
rs41504 -- 13,993,025(-) TTTCT(G/T)CATAA upstream-variant-2KB
rs41505 -- 13,990,494(-) CGGGT(C/T)CTAGG upstream-variant-2KB, intron-variant
rs41506 -- 13,990,468(-) CAAGC(A/C)CTCCC upstream-variant-2KB, intron-variant
rs717824 -- 13,992,873(+) CTACC(C/T)CCCTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for ETV1 Gene

Variant ID Type Subtype PubMed ID
nsv821652 CNV Loss 15273396
nsv887698 CNV Gain 21882294
nsv887700 CNV Loss 21882294
nsv887701 CNV Gain 21882294
dgv7205n71 CNV Loss 21882294
nsv5642 CNV Insertion 18451855

Relevant External Links for ETV1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETV1 Gene

Disorders for ETV1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for ETV1 Gene including...

Search for ETV1 Gene in MalaCards »


  • Ewing sarcoma (ES) [MIM:612219]: A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ETV1 is found in patients with Erwing sarcoma. Translocation t(7;22)(p22;q12) with EWSR1.

(3) University of Copenhagen DISEASES for ETV1 Gene

(7) Novoseek inferred disease relationships for ETV1 Gene

Disease -log(P) Hits PubMed IDs
ewings sarcoma 63 3
prostate cancer 58.8 33
tumors 36.7 18
mammary tumor 35.6 1
metastasis 25.5 2

Relevant External Links for ETV1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ETV1: view

Publications for ETV1 Gene

  1. Molecular characterization of the ets-related human transcription factor ER81. (PMID: 7651741) Monte D. … de Launoit Y. (Oncogene 1995) 3 4 23
  2. A variant Ewing's sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1. (PMID: 7700648) Jeon I.-S. … Shapiro D.N. (Oncogene 1995) 3 4 23
  3. Regulation of the ETS transcription factor ER81 by the 90-kDa ribosomal S6 kinase 1 and protein kinase A. (PMID: 12213813) Wu J. … Janknecht R. (J. Biol. Chem. 2002) 3 4 23
  4. Regulation of the ER81 transcription factor and its coactivators by mitogen- and stress-activated protein kinase 1 (MSK1). (PMID: 12569367) Janknecht R. (Oncogene 2003) 3 4 23
  5. Characterization of the human and mouse ETV1/ER81 transcription factor genes: role of the two alternatively spliced isoforms in the human. (PMID: 10597226) Coutte L. … de Launoit Y. (Oncogene 1999) 3 23

Products for ETV1 Gene

Sources for ETV1 Gene

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