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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]

CIViC summary for ETV1 Gene

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 Development_TGF-beta receptor signaling and P38 MAPK Signaling Pathway (sino). Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II proximal promoter 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for ETV1 Gene

Promoters and enhancers for ETV1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J013985 Promoter/Enhancer 2.8 UCNEbase EPDnew Ensembl ENCODE dbSUPER 650.7 +2.1 2116 7.5 HDGF FOXA2 PKNOX1 SMAD1 ARNT SIN3A FEZF1 YY1 POLR2B ZNF766 ETV1 GC07M013945
GH07J013848 Enhancer 1.1 Ensembl ENCODE 13.2 +141.6 141599 2.6 HDAC1 ATF1 TCF12 ZNF766 ZNF366 FOS ETV6 IKZF2 RUNX3 CREM ETV1 ENSG00000224330 PIR54417
GH07J013945 Enhancer 0.7 Ensembl ENCODE 11.2 +45.3 45283 1.1 OSR2 ZNF335 JUND RCOR1 PRDM1 CHD2 GC07M013945 ETV1 GC07P013920
GH07J013879 Enhancer 0.6 Ensembl ENCODE 10.2 +110.9 110902 1.6 JUND PKNOX1 POLR2A ETV1 RPL26P21 GC07P013894
GH07J013918 Enhancer 1.2 Ensembl ENCODE 4.6 +71.1 71130 2.6 PKNOX1 ATF1 SIN3A FEZF1 ZNF2 YY1 GLIS2 ZNF213 KLF7 FOS GC07P013920 ENSG00000224330 EEF1A1P26 ENSG00000237713 LOC105375163 ETV1 GC07M013945
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ETV1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ETV1 gene promoter:
  • E2F-5
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • FOXD3
  • HTF
  • SRY
  • TBP

Genomic Locations for ETV1 Gene

Genomic Locations for ETV1 Gene
chr7:13,891,228-13,991,425
(GRCh38/hg38)
Size:
100,198 bases
Orientation:
Minus strand
chr7:13,930,853-14,031,050
(GRCh37/hg19)
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

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

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for ETV1 Gene

Graphical View of Domain Structure for InterPro Entry

P50549

UniProtKB/Swiss-Prot:

ETV1_HUMAN :
  • Belongs to the ETS family.
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

UniProtKB/Swiss-Prot Function:
Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5-CGGA[AT]-3.
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)

Phenotypes From GWAS Catalog for ETV1 Gene

Gene Ontology (GO) - Molecular Function for ETV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 12750007
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 12750007
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity TAS 7700648
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:
  • Etv1 Etv1<tm1Tmj>
  • Etv1 Etv1<tm1.1Wds>
  • Etv1 Etv1<tm2Tmj>
  • Etv1 Etv1<tm1(Ewsr1/Etv4)Arbr>

Animal Model Products

CRISPR 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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETV1

Clone Products

  • Addgene plasmids for ETV1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology 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

Subcellular locations from the

Human Protein Atlas (HPA)

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:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0006366 transcription by RNA polymerase II TAS,IEA --
GO:0007411 axon guidance 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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETV1

Clone Products

  • Addgene plasmids for ETV1

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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for ETV1 Gene

  • Nervous system(5)
  • Kidney(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ETV1 Gene

Germ Layers:
  • mesoderm
Systems:
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ETV1: view

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 33
  • 99.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ETV1 34 33
  • 95.32 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ETV1 34 33
  • 95.18 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Etv1 33
  • 93.78 (n)
mouse
(Mus musculus)
Mammalia Etv1 16 34 33
  • 93.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ETV1 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ETV1 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves ER81 34
  • 95 (a)
OneToOne
ETV1 33
  • 87.91 (n)
lizard
(Anolis carolinensis)
Reptilia ETV1 34
  • 94 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etv1 33
  • 82.46 (n)
MGC75591 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.1665 33
zebrafish
(Danio rerio)
Actinopterygii etv1 34 33
  • 72.27 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ets96B 34 35
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5939 34
  • 16 (a)
ManyToMany
Cin.2851 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2851 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for ETV1: view image

Paralogs for ETV1 Gene

Paralogs for ETV1 Gene

(10) SIMAP similar genes for ETV1 Gene using alignment to 8 proteins:

  • ETV1_HUMAN
  • B5MCT2_HUMAN
  • C9J0B7_HUMAN
  • C9J4P4_HUMAN
  • C9J9L1_HUMAN
  • C9JQH6_HUMAN
  • C9JX69_HUMAN
  • F8WEH6_HUMAN
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 Variation AA Info Type
rs1000041552 -- 13,928,776(-) G/A/T intron_variant
rs1000050896 -- 13,962,364(-) G/A intron_variant
rs1000066775 -- 13,978,112(-) A/G intron_variant
rs1000074239 -- 13,928,560(-) G/T intron_variant
rs1000084061 -- 13,985,050(-) T/G intron_variant

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

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

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)

Additional Variant Information for ETV1 Gene

Human Gene Mutation Database (HGMD)
ETV1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETV1

SNP Genotyping and Copy Number Assay Products

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

Disorders for ETV1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ewing sarcoma
  • es
gastrointestinal stromal tumor
  • gist
microphthalmia, isolated 1
  • mcop1
prostate cancer
  • prostate cancer, susceptibility to
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}.

Additional Disease Information for ETV1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 (The Journal of biological chemistry 2002) 3 4 22 58
  3. Molecular characterization of the ets-related human transcription factor ER81. (PMID: 7651741) Monté D … de Launoit Y (Oncogene 1995) 3 4 22 58
  4. A variant Ewing's sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1. (PMID: 7700648) Jeon IS … Shapiro DN (Oncogene 1995) 3 4 22 58
  5. Utility of incorporating genetic variants for the early detection of prostate cancer. (PMID: 19223501) Nam RK … Narod SA (Clinical cancer research : an official journal of the American Association for Cancer Research 2009) 3 44 58

Products for ETV1 Gene

Sources for ETV1 Gene

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