This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, a... See more...

Aliases for ETS1 Gene

Aliases for ETS1 Gene

  • ETS Proto-Oncogene 1, Transcription Factor 2 3 5
  • Avian Erythroblastosis Virus E26 (V-Ets) Oncogene Homolog-1 2 3
  • V-Ets Avian Erythroblastosis Virus E26 Oncogene Homolog 1 2 3
  • Protein C-Ets-1 3 4
  • ETS-1 2 3
  • EWSR2 3 4
  • P54 3 4
  • V-Ets Avian Erythroblastosis Virus E2 Oncogene Homolog 1 3
  • Ets Protein 2
  • FLJ10768 2
  • C-Ets-1 3
  • ETS1 5

External Ids for ETS1 Gene

Previous HGNC Symbols for ETS1 Gene

  • EWSR2

Previous GeneCards Identifiers for ETS1 Gene

  • GC11M130331
  • GC11M129841
  • GC11M128362
  • GC11M127869
  • GC11M127866
  • GC11M127833
  • GC11M124277
  • GC11M128328

Summaries for ETS1 Gene

Entrez Gene Summary for ETS1 Gene

  • This gene encodes a member of the ETS family of transcription factors, which are defined by the presence of a conserved ETS DNA-binding domain that recognizes the core consensus DNA sequence GGAA/T in target genes. These proteins function either as transcriptional activators or repressors of numerous genes, and are involved in stem cell development, cell senescence and death, and tumorigenesis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.[provided by RefSeq, Jul 2011]

GeneCards Summary for ETS1 Gene

ETS1 (ETS Proto-Oncogene 1, Transcription Factor) is a Protein Coding gene. Diseases associated with ETS1 include Jacobsen Syndrome and Systemic Lupus Erythematosus. Among its related pathways are Development HGF signaling pathway and IL4-mediated signaling events. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is ETS2.

UniProtKB/Swiss-Prot Summary for ETS1 Gene

  • Transcription factor. Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts. May control the differentiation, survival and proliferation of lymphoid cells. May also regulate angiogenesis through regulation of expression of genes controlling endothelial cell migration and invasion.

Gene Wiki entry for ETS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ETS1 Gene

Genomics for ETS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ETS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ETS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ETS1

Top Transcription factor binding sites by QIAGEN in the ETS1 gene promoter:
  • AML1a

Genomic Locations for ETS1 Gene

Latest Assembly
chr11:128,458,761-128,587,593
(GRCh38/hg38)
Size:
128,833 bases
Orientation:
Minus strand

Previous Assembly
chr11:128,328,660-128,457,453
(GRCh37/hg19 by Entrez Gene)
Size:
128,794 bases
Orientation:
Minus strand

chr11:128,328,656-128,457,453
(GRCh37/hg19 by Ensembl)
Size:
128,798 bases
Orientation:
Minus strand

Genomic View for ETS1 Gene

Genes around ETS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETS1 Gene

Proteins for ETS1 Gene

  • Protein details for ETS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14921-ETS1_HUMAN
    Recommended name:
    Protein C-ets-1
    Protein Accession:
    P14921
    Secondary Accessions:
    • A9UL17
    • F5GYX9
    • Q14278
    • Q16080
    • Q6N087
    • Q96AC5

    Protein attributes for ETS1 Gene

    Size:
    441 amino acids
    Molecular mass:
    50408 Da
    Quaternary structure:
    • Binds DNA as a homodimer; homodimerization is required for transcription activation. Interacts with MAF and MAFB. Interacts with PAX5; the interaction alters DNA-binding properties (By similarity). Interacts with DAXX. Interacts with UBE2I. Interacts with SP100; the interaction is direct and modulates ETS1 transcriptional activity.
    Miscellaneous:
    • [Isoform Ets-1 p27]: Acts as a dominant-negative for isoform c-ETS-1A.

    Three dimensional structures from OCA and Proteopedia for ETS1 Gene

    Alternative splice isoforms for ETS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETS1 Gene

Post-translational modifications for ETS1 Gene

  • Sumoylated on Lys-15 and Lys-227, preferentially with SUMO2; which inhibits transcriptional activity.
  • Ubiquitinated; which induces proteasomal degradation.
  • Ubiquitination at Lys2, Lys8, Lys245, Lys50, and Lys58
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for ETS1

No data available for DME Specific Peptides for ETS1 Gene

Domains & Families for ETS1 Gene

Gene Families for ETS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ETS1 Gene

InterPro:
Blocks:
  • Sterile alpha motif (SAM)/Pointed domain

Suggested Antigen Peptide Sequences for ETS1 Gene

GenScript: Design optimal peptide antigens:
  • Ets-1 p27 (A9UL17_HUMAN)
  • p54 (ETS1_HUMAN)
  • ETS1 protein (Q6FG54_HUMAN)
  • V-ets erythroblastosis virus E26 oncogene homolog 1 (Avian), isoform CRA_a (Q96AC5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P14921

UniProtKB/Swiss-Prot:

ETS1_HUMAN :
  • Belongs to the ETS family.
Family:
  • Belongs to the ETS family.
genes like me logo Genes that share domains with ETS1: view

Function for ETS1 Gene

Molecular function for ETS1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor. Directly controls the expression of cytokine and chemokine genes in a wide variety of different cellular contexts. May control the differentiation, survival and proliferation of lymphoid cells. May also regulate angiogenesis through regulation of expression of genes controlling endothelial cell migration and invasion.
UniProtKB/Swiss-Prot Induction:
Up-regulated by retinoic acid, VEGF, TNF-alpha/TNFA, lipopolysaccharide and in response to hypoxia (at protein level).
GENATLAS Biochemistry:
avian erythroblastosis virus E26 (v-ets) oncogene homolog 1

Phenotypes From GWAS Catalog for ETS1 Gene

Gene Ontology (GO) - Molecular Function for ETS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 12119294
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IDA,ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 15001984
GO:0003677 DNA binding ISS --
GO:0003700 DNA-binding transcription factor activity IDA 11909962
genes like me logo Genes that share ontologies with ETS1: view
genes like me logo Genes that share phenotypes with ETS1: view

Animal Models for ETS1 Gene

MGI Knock Outs for ETS1:

miRNA for ETS1 Gene

miRTarBase miRNAs that target ETS1

Transcription Factor Targets for ETS1 Gene

Selected GeneGlobe predicted Target genes for ETS1
Targeted motifs for ETS1 Gene
HOMER Transcription Factor Regulatory Elements motif ETS1
  • Consensus sequence: ACAGGAAGTG Submotif: canonical Cell Type: Jurkat GEO ID: GSE17954

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETS1

Clone products for research

  • Addgene plasmids for ETS1

No data available for Enzyme Numbers (IUBMB) and Human Phenotype Ontology for ETS1 Gene

Localization for ETS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETS1 Gene

Cytoplasm. Nucleus. Note=Delocalizes from nucleus to cytoplasm when coexpressed with isoform Ets-1 p27. {ECO:0000269 PubMed:19377509}.

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 ETS1 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ETS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA,IDA 11909962
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0042025 host cell nucleus IEA --
genes like me logo Genes that share ontologies with ETS1: view

Pathways & Interactions for ETS1 Gene

genes like me logo Genes that share pathways with ETS1: view

Pathways by source for ETS1 Gene

1 GeneGo (Thomson Reuters) pathway for ETS1 Gene
  • Immune response MIF-mediated glucocorticoid regulation
1 R&D Systems pathway for ETS1 Gene
5 Qiagen pathways for ETS1 Gene
  • ERK Signaling
  • HGF Pathway
  • Macrophage Differentiation and Growth Inhibition by METS
  • MIF Action Through Endocytic Pathway
  • Nur77-Induced AICD in Macrophage
1 Cell Signaling Technology pathway for ETS1 Gene

SIGNOR curated interactions for ETS1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ETS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0002376 immune system process IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0006366 transcription by RNA polymerase II IDA --
genes like me logo Genes that share ontologies with ETS1: view

Drugs & Compounds for ETS1 Gene

(28) Drugs for ETS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(11) Additional Compounds for ETS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ETS1: view

Transcripts for ETS1 Gene

mRNA/cDNA for ETS1 Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETS1

Clone products for research

  • Addgene plasmids for ETS1

Alternative Splicing Database (ASD) splice patterns (SP) for ETS1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b
SP1: -
SP2: - - -
SP3:

Relevant External Links for ETS1 Gene

GeneLoc Exon Structure for
ETS1

Expression for ETS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ETS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ETS1 Gene

This gene is overexpressed in Liver (37.8), Blymphocyte (13.6), and CD8 Tcells (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ETS1 Gene



Protein tissue co-expression partners for ETS1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ETS1

SOURCE GeneReport for Unigene cluster for ETS1 Gene:

Hs.369438

mRNA Expression by UniProt/SwissProt for ETS1 Gene:

P14921-ETS1_HUMAN
Tissue specificity: Highly expressed within lymphoid cells. Isoforms c-ETS-1A and Ets-1 p27 are both detected in all fetal tissues tested, but vary with tissue type in adult tissues. None is detected in brain or kidney.

Evidence on tissue expression from TISSUES for ETS1 Gene

  • Lung(4.6)
  • Lymph node(3.3)
  • Spleen(3.3)
  • Intestine(3.1)
  • Heart(3)
  • Kidney(2.8)
  • Muscle(2.8)
  • Liver(2.8)
  • Blood(2.8)
  • Skin(2.7)
  • Bone marrow(2.7)
  • Nervous system(2.5)
  • Thyroid gland(2.4)
  • Stomach(2.4)
  • Pancreas(2.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with ETS1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ETS1 Gene

Orthologs for ETS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ETS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ETS1 30
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ETS1 29 30
  • 95.09 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ETS1 30
  • 93 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ets1 29
  • 92.52 (n)
Mouse
(Mus musculus)
Mammalia Ets1 29 16 30
  • 92.35 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ETS1 30
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ETS1 29 30
  • 91.99 (n)
OneToOne
Chicken
(Gallus gallus)
Aves ETS1 29 30
  • 84.66 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ETS1 30
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100170599 29
  • 77.7 (n)
Str.1672 29
African clawed frog
(Xenopus laevis)
Amphibia ets1a-A-prov 29
Zebrafish
(Danio rerio)
Actinopterygii ets1 29
  • 74.06 (n)
ETS1 30
  • 37 (a)
OneToOne
idibd1116 29
Fruit Fly
(Drosophila melanogaster)
Insecta pnt 30 31
  • 26 (a)
OneToMany
Species where no ortholog for ETS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 ETS1 Gene

ENSEMBL:
Gene Tree for ETS1 (if available)
TreeFam:
Gene Tree for ETS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ETS1: view image
Alliance of Genome Resources:
Additional Orthologs for ETS1

Paralogs for ETS1 Gene

(4) SIMAP similar genes for ETS1 Gene using alignment to 4 proteins:

  • ETS1_HUMAN
  • Q6FG54_HUMAN
  • Q96AC5_HUMAN
  • V9GYD6_HUMAN

Pseudogenes.org Pseudogenes for ETS1 Gene

genes like me logo Genes that share paralogs with ETS1: view

Variants for ETS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ETS1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs118149282 Benign: not provided 128,480,393(-) G/A
NM_001143820.2(ETS1):c.921C>T (p.Arg307=)
SYNONYMOUS_VARIANT,INTRON
rs142279599 Uncertain Significance: not specified 128,485,068(-) T/C
NM_001143820.2(ETS1):c.617A>G (p.Tyr206Cys)
MISSENSE_VARIANT,INTRON
rs145793592 Benign: not provided 128,573,095(-) G/A
NM_001143820.2(ETS1):c.36C>T (p.Pro12=)
SYNONYMOUS
rs149636924 Benign: not provided 128,486,082(-) C/T
NM_001143820.2(ETS1):c.600G>A (p.Ser200=)
SYNONYMOUS_VARIANT,INTRON
rs1565372210 Pathogenic: 11q partial monosomy syndrome 128,480,265(-) TCCTTG/AA
NM_001143820.2(ETS1):c.1044_1049delinsTT (p.Lys349fs)
FRAMESHIFT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ETS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ETS1 Gene

Variant ID Type Subtype PubMed ID
esv1237588 CNV deletion 17803354
esv1757388 CNV insertion 17803354
esv25513 CNV loss 19812545
esv2745237 CNV deletion 23290073
esv2745238 CNV deletion 23290073
esv2745239 CNV deletion 23290073
esv274885 CNV gain+loss 21479260
esv275204 CNV gain+loss 21479260
esv275584 CNV loss 21479260
esv3305475 CNV mobile element insertion 20981092
esv3325680 CNV insertion 20981092
esv3579955 CNV loss 25503493
esv3579956 CNV loss 25503493
esv3628046 CNV loss 21293372
esv8500 OTHER inversion 19470904
nsv442246 CNV loss 18776908
nsv517012 CNV loss 19592680
nsv952758 CNV duplication 24416366

Variation tolerance for ETS1 Gene

Residual Variation Intolerance Score: 26% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.73; 15.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ETS1 Gene

Human Gene Mutation Database (HGMD)
ETS1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETS1
Leiden Open Variation Database (LOVD)
ETS1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETS1 Gene

Disorders for ETS1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for ETS1 Gene - From: CVR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
jacobsen syndrome
  • jbs
systemic lupus erythematosus
  • sle
ewing sarcoma
  • es
benign meningioma
  • meningioma, benign
ovarian cancer
  • ovarian cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search ETS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ETS1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ETS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ETS1 Gene

Publications for ETS1 Gene

  1. Regulation of the transcription factor Ets-1 by DNA-mediated homo-dimerization. (PMID: 18566588) Lamber EP … Wilmanns M (The EMBO journal 2008) 3 4 22
  2. SP100 inhibits ETS1 activity in primary endothelial cells. (PMID: 15592518) Yordy JS … Watson DK (Oncogene 2005) 3 4 22
  3. Sp100 interacts with ETS-1 and stimulates its transcriptional activity. (PMID: 11909962) Wasylyk C … Wasylyk B (Molecular and cellular biology 2002) 3 4 22
  4. Modulation of ETS-1 transcriptional activity by huUBC9, a ubiquitin-conjugating enzyme. (PMID: 9333025) Hahn SL … Criqui P (Oncogene 1997) 3 4 22
  5. Quantitative and qualitative variation of ETS-1 transcripts in hematologic malignancies. (PMID: 8231246) Collyn d'Hooghe M … Kerckaert JP (Leukemia 1993) 3 4 22

Products for ETS1 Gene

Sources for ETS1 Gene