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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 Variant 1 5

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 Transcriptional misregulation in cancer and Akt Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is ETS2.

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

Enhancers for ETV1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ETV1 on UCSC Golden Path with GeneCards custom track

Promoters for ETV1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ETV1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ETV1 Gene

Chromosome:
7
Start:
13,891,228 bp from pter
End:
13,991,425 bp from pter
Size:
100,198 bases
Orientation:
Minus strand

Genomic View for ETV1 Gene

Genes around ETV1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETV1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P50549-ETV1_HUMAN
    Recommended name:
    ETS translocation variant 1
    Protein Accession:
    P50549
    Secondary Accessions:
    • A4D118
    • B2R768
    • B7Z2I4
    • B7Z618
    • B7Z9P2
    • C9JT37
    • E9PHB1
    • F5GXR2
    • O75849
    • Q4KMQ6
    • Q59GA7
    • Q6AI30
    • Q9UQ71
    • Q9Y636

    Protein attributes for ETV1 Gene

    Size:
    477 amino acids
    Molecular mass:
    55131 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • 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 & Families for ETV1 Gene

Gene Families for ETV1 Gene

Protein Domains for ETV1 Gene

Suggested Antigen Peptide Sequences for ETV1 Gene

Graphical View of Domain Structure for InterPro Entry

P50549

UniProtKB/Swiss-Prot:

ETV1_HUMAN :
  • Contains 1 ETS DNA-binding domain.
  • Belongs to the ETS family.
Domain:
  • Contains 1 ETS DNA-binding domain.
Family:
  • Belongs to the ETS family.
genes like me logo Genes that share domains with ETV1: view

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:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 12750007
genes like me logo Genes that share ontologies with ETV1: view
genes like me logo Genes that share phenotypes with ETV1: view

Human Phenotype Ontology for ETV1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ETV1 Gene

MGI Knock Outs for ETV1:

miRNA for ETV1 Gene

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

In Situ Assay Products

Flow Cytometry Products

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

Localization for ETV1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETV1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ETV1 Gene COMPARTMENTS Subcellular localization image for ETV1 gene
Compartment Confidence
nucleus 5
cytoskeleton 1

No data available for Gene Ontology (GO) - Cellular Components for ETV1 Gene

Pathways & Interactions for ETV1 Gene

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

Pathways by source for ETV1 Gene

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

SIGNOR curated interactions for ETV1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ETV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007638 mechanosensory behavior IEA --
GO:0048935 peripheral nervous system neuron development TAS 20096094
genes like me logo Genes that share ontologies with ETV1: view

Drugs & Compounds for ETV1 Gene

(3) Drugs for ETV1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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: -
SP6:
SP7:
SP8:

Relevant External Links for ETV1 Gene

GeneLoc Exon Structure for
ETV1
ECgene alternative splicing isoforms for
ETV1

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 (x15.4) and Brain - Cerebellum (x11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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

P50549-ETV1_HUMAN
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 expression patterns with ETV1: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for ETV1 Gene

Orthologs for ETV1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ETV1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ETV1 35
  • 95.18 (n)
  • 98.11 (a)
ETV1 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ETV1 35
  • 95.32 (n)
  • 98.53 (a)
ETV1 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Etv1 35
  • 93.71 (n)
  • 97.9 (a)
Etv1 16
Etv1 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ETV1 35
  • 99.79 (n)
  • 99.79 (a)
ETV1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Etv1 35
  • 93.78 (n)
  • 97.69 (a)
oppossum
(Monodelphis domestica)
Mammalia ETV1 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ETV1 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves ETV1 35
  • 87.91 (n)
  • 94.97 (a)
ER81 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ETV1 36
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etv1 35
  • 82.46 (n)
  • 88.05 (a)
MGC75591 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.1665 35
zebrafish
(Danio rerio)
Actinopterygii etv1 35
  • 72.27 (n)
  • 74.22 (a)
etv1 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ets96B 37
  • 87 (a)
Ets96B 36
  • 23 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2851 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5939 36
  • 16 (a)
ManyToMany
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

ENSEMBL:
Gene Tree for ETV1 (if available)
TreeFam:
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
rs9639168 - 13,939,184(+) AGAGC(A/C/T)GATTT nc-transcript-variant, reference, missense
rs765980 -- 13,984,606(-) TAAGC(A/G)TTTTC intron-variant
rs765981 -- 13,984,548(-) GTTAA(C/T)GTGAT intron-variant
rs765982 -- 13,984,182(-) TTCTC(C/G)CATGA intron-variant
rs917093 -- 13,969,377(-) TATTG(A/T)CATCT intron-variant

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

Variation tolerance for ETV1 Gene

Residual Variation Intolerance Score: 8.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.61; 89.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ETV1 Gene

HapMap Linkage Disequilibrium report
ETV1
Human Gene Mutation Database (HGMD)
ETV1

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

Disorders for ETV1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ETV1 Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ewing sarcoma
  • neuroepithelioma
gastrointestinal stromal tumor
  • paraganglioma and gastric stromal sarcoma
prostate cancer
  • prostate cancer, hereditary, 5
male reproductive organ cancer
  • male genital cancer
- elite association - COSMIC cancer census association via MalaCards
Search ETV1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ETV1_HUMAN
  • 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. {ECO:0000269 PubMed:7700648}. 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. {ECO:0000269 PubMed:7700648}.

Relevant External Links for ETV1

Genetic Association Database (GAD)
ETV1
Human Genome Epidemiology (HuGE) Navigator
ETV1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ETV1
genes like me logo Genes that share disorders with ETV1: view

No data available for Genatlas for ETV1 Gene

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 67
  2. Transcriptional activation of hTERT in breast carcinomas by the Her2-ER81-related pathway. (PMID: 19718948) Vageli D. … Koukoulis G.K. (Oncol. Res. 2009) 3 23
  3. Induction of prostatic intraepithelial neoplasia and modulation of androgen receptor by ETS variant 1/ETS-related protein 81. (PMID: 19789348) Shin S. … Janknecht R. (Cancer Res. 2009) 3 23
  4. Characterization of ETS gene aberrations in select histologic variants of prostate carcinoma. (PMID: 19465903) Han B. … Shah R.B. (Mod. Pathol. 2009) 3 23
  5. Role of Sox-9, ER81 and VE-cadherin in retinoic acid-mediated trans-differentiation of breast cancer cells. (PMID: 18628953) Endo Y. … Byers S.W. (PLoS ONE 2008) 3 23

Products for ETV1 Gene

Sources for ETV1 Gene

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