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Aliases for ETV1 Gene

Aliases for ETV1 Gene

  • ETS Variant 1 2 3 5
  • 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 Ewing 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, Jul 2016]

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 P38 MAPK Signaling Pathway (sino). 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 ETV5.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F013848 1.2 Ensembl ENCODE 13.2 +141.6 141573 2.7 PKNOX1 ATF1 SIN3A FOS TBX21 MEF2D SMARCA4 PBX2 HMBOX1 ILK ETV1 ENSG00000224330 PIR54417
GH07F013879 1.3 Ensembl ENCODE 10.2 +110.9 110902 1.6 ATF1 PKNOX1 SIN3A FEZF1 ZNF2 GLIS2 ZNF302 KLF7 FOS SP3 ENSG00000224330 EEF1A1P26 ENSG00000237713 LOC105375163 ETV1 RPL26P21 GC07P013894
GH07F013908 1 Ensembl ENCODE 10.8 +82.4 82422 0.8 PKNOX1 NR2F1 BHLHE40 ZNF384 FEZF1 ZEB2 HIC1 ZFP69B PBX2 ID3 ETV1 GC07P013894 GC07P013920
GH07F013945 0.9 Ensembl ENCODE 11.2 +45.3 45283 1.1 CEBPB CEBPG REST RAD21 OSR2 JUND SMARCA4 MLLT1 PRDM1 ETV1 GC07M013945 GC07P013920
GH07F013903 0.8 Ensembl ENCODE 10.7 +86.7 86696 1.7 JUND CEBPB MAFK WT1 ETV1 GC07P013894 GC07P013920
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000308872 1624 5999 PKNOX1 ATF1 SIN3A FEZF1 ETS1 YY1 GLIS2 ELK1 GATA2 FOS

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

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

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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 12750007
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 12750007
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding 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

Human Phenotype Ontology for ETV1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ETV1 Gene

MGI Knock Outs for ETV1:

Animal Model Products

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

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ETV1 gene
Compartment Confidence
nucleus 5
extracellular 1
cytoskeleton 1

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 & Interactions for ETV1 Gene

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

Pathways by source for ETV1 Gene

2 Sino Biological pathways 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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA,TAS --
GO:0007411 axon guidance IEA --
GO:0007517 muscle organ development IEA --
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:

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ETV1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ETV1 Gene:

ETV1

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

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
chimpanzee
(Pan troglodytes)
Mammalia ETV1 34 35
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia ETV1 34 35
  • 95.32 (n)
cow
(Bos Taurus)
Mammalia ETV1 34 35
  • 95.18 (n)
rat
(Rattus norvegicus)
Mammalia Etv1 34
  • 93.78 (n)
mouse
(Mus musculus)
Mammalia Etv1 34 16 35
  • 93.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ETV1 35
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ETV1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ER81 35
  • 95 (a)
OneToOne
ETV1 34
  • 87.91 (n)
lizard
(Anolis carolinensis)
Reptilia ETV1 35
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etv1 34
  • 82.46 (n)
MGC75591 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.1665 34
zebrafish
(Danio rerio)
Actinopterygii etv1 34 35
  • 72.27 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ets96B 36 35
  • 87 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5939 35
  • 16 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2851 34
Species where no ortholog for ETV1 was found in the sources mined by GeneCards:
  • 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
rs10046568 -- 13,893,466(+) TGAGT(C/T)ACTAC nc-transcript-variant, utr-variant-3-prime
rs10085544 -- 13,929,521(+) GACAC(A/G)CCCCA intron-variant
rs10085783 -- 13,927,752(+) TTTGA(C/T)ACCCA intron-variant
rs10085790 -- 13,927,899(+) CAAAG(A/G)TGGTA intron-variant
rs1015271 -- 13,968,040(-) GCCAA(A/G)CAATA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv821652 CNV loss 15273396
nsv606279 CNV loss 21841781
nsv606278 CNV loss 21841781
nsv606277 CNV loss 21841781
nsv5642 CNV insertion 18451855
nsv1132035 CNV deletion 24896259
nsv1128301 CNV deletion 24896259
nsv1020543 CNV gain 25217958
esv3571659 CNV loss 25503493
esv2761303 CNV gain 21179565

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

Human Gene Mutation Database (HGMD)
ETV1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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. 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 22 64
  2. 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 22 64
  3. Molecular characterization of the ets-related human transcription factor ER81. (PMID: 7651741) Monte D. … de Launoit Y. (Oncogene 1995) 3 4 22 64
  4. 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 22 64
  5. Characterization of ETS gene aberrations in select histologic variants of prostate carcinoma. (PMID: 19465903) Han B. … Shah R.B. (Mod. Pathol. 2009) 3 22 64

Products for ETV1 Gene

Sources for ETV1 Gene

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