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    ETS1 ETS proto-oncogene 1, transcription factor [ Homo sapiens (human) ]

    Gene ID: 2113, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ETS1provided by HGNC
    Official Full Name
    ETS proto-oncogene 1, transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:3488
    See related
    Ensembl:ENSG00000134954 MIM:164720; AllianceGenome:HGNC:3488
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p54; ETS-1; EWSR2; c-ets-1
    Summary
    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]
    Expression
    Broad expression in lymph node (RPKM 31.2), spleen (RPKM 21.4) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ETS1 in Genome Data Viewer
    Location:
    11q24.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (128458765..128587558, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (128492108..128620806, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (128328660..128457453, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902788 Neighboring gene uncharacterized LOC124902789 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128292222-128292722 Neighboring gene Sharpr-MPRA regulatory region 2302 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:128318161-128319360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5719 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5720 Neighboring gene Sharpr-MPRA regulatory region 15716 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5721 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5722 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5723 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:128362337-128363536 Neighboring gene Sharpr-MPRA regulatory region 9161 Neighboring gene CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128391955-128393363 Neighboring gene uncharacterized LOC124902790 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr11:128402435-128403132 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:128401737-128402434 Neighboring gene NANOG hESC enhancer GRCh37_chr11:128403302-128403803 Neighboring gene NANOG hESC enhancer GRCh37_chr11:128420904-128421445 Neighboring gene ETS1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5725 Neighboring gene microRNA 6090 Neighboring gene CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128422800-128423300 Neighboring gene uncharacterized LOC105369565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128446088-128446588 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:128452292-128453010 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:128453011-128453727 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:128457406-128457612 Neighboring gene uncharacterized LOC105369568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5728 Neighboring gene CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128480315-128481964 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128485091-128485590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128485724-128486224 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:128491606-128492805 Neighboring gene CRISPRi-FlowFISH-validated ETS1 regulatory element GRCh37_chr11:128494058-128494944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5730 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:128523817-128524317 Neighboring gene uncharacterized LOC101929538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5731 Neighboring gene Fli-1 proto-oncogene, ETS transcription factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Association of two SNPs in 3'UTR of ETS1 gene with systemic lupus erythematosus in a northern Chinese Han population]. Guo XF, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2013 Aug. PMID 23926020
    2. DNA-dependent protein kinase is a novel interaction partner for Ets-1 isoforms. Choul-li S, et al. Biochem Biophys Res Commun, 2009 Dec 18. PMID 19836356
    3. Regulation of protein tyrosine kinases in tumour cells by the transcription factor Ets-1. Hahne JC, et al. Int J Oncol, 2009 Nov. PMID 19787252
    4. MicroRNA‑766 inhibits the malignant biological behaviours of pancreatic ductal adenocarcinoma by directly targeting ETS1. Li S, et al. Mol Med Rep, 2019 Feb. PMID 30569091
    5. Ets-1 p51 and p42 isoforms differentially modulate Stromelysin-1 promoter according to induced DNA bend orientation. Leprivier G, et al. Nucleic Acids Res, 2009 Jul. PMID 19465391, Free PMC Article

    See all (450) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ETS1 drives EGF-induced glycolytic shift and metastasis of epithelial ovarian cancer cells.
      Title: ETS1 drives EGF-induced glycolytic shift and metastasis of epithelial ovarian cancer cells.
    2. Circ-PITX1 promotes non-small-cell lung cancer progression through regulating ETS1 expression via miR-615-5p.
      Title: Circ-PITX1 promotes non-small-cell lung cancer progression through regulating ETS1 expression via miR-615-5p.
    3. ETS1 and RBPJ transcriptionally regulate METTL14 to suppress TGF-beta1-induced epithelial-mesenchymal transition in human bronchial epithelial cells.
      Title: ETS1 and RBPJ transcriptionally regulate METTL14 to suppress TGF-β1-induced epithelial-mesenchymal transition in human bronchial epithelial cells.
    4. ERK/MAPK Signalling Pathway Regulates MMP2 through ETS1 in Renal Clear Cell Carcinoma.
      Title: ERK/MAPK Signalling Pathway Regulates MMP2 through ETS1 in Renal Clear Cell Carcinoma.
    5. Mechanoresponsive ETS1 causes endothelial dysfunction and arterialization in varicose veins via NOTCH4/DLL4 signaling.
      Title: Mechanoresponsive ETS1 causes endothelial dysfunction and arterialization in varicose veins via NOTCH4/DLL4 signaling.
    6. HMGA1 sensitizes esophageal squamous cell carcinoma to mTOR inhibitors through the ETS1-FKBP12 axis.
      Title: HMGA1 sensitizes esophageal squamous cell carcinoma to mTOR inhibitors through the ETS1-FKBP12 axis.
    7. ETS1 regulates NDRG1 to promote the proliferation, migration, and invasion of OSCC.
      Title: ETS1 regulates NDRG1 to promote the proliferation, migration, and invasion of OSCC.
    8. An update on the roles of transcription factor Ets1 in autoimmune diseases.
      Title: An update on the roles of transcription factor Ets1 in autoimmune diseases.
    9. Downregulation of circular RNA ETS1 promotes SLE activity and inhibits Treg cell differentiation through miR-1205/FoxP3 molecular axis.
      Title: Downregulation of circular RNA ETS1 promotes SLE activity and inhibits Treg cell differentiation through miR-1205/FoxP3 molecular axis.
    10. Allele-specific effect of various dietary fatty acids and ETS1 transcription factor on SCD1 expression.
      Title: Allele-specific effect of various dietary fatty acids and ETS1 transcription factor on SCD1 expression.
    Submit: New GeneRIF Correction See all GeneRIFs (356)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    EBI GWAS Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region.
    EBI GWAS Catalog
    Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
    EBI GWAS Catalog
    Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.
    EBI GWAS Catalog
    Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
    EBI GWAS Catalog
    Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
    EBI GWAS Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat binding peaks in Tat expression Jurkat cells are associated with specific cellular factors (CBP and ETS) and chromatin marks (H3K4me3 and H3K27me3) in Jurkat cells PubMed
    tat Ets1- and Sp1-binding sites as specific inducible responsive elements are required for HIV-1 Tat-induced IL-10 promoter activation; Ets-1 is essential for the Tat-induced activation of IL-10 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10768

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables nuclear receptor coactivator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables nucleic acid binding EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription corepressor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in PML body organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of cell cycle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of blood vessel endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of erythrocyte differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of inflammatory response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of leukocyte adhesion to vascular endothelial cell IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of miRNA transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in response to antibiotic IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein C-ets-1
    Names
    Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1
    v-ets avian erythroblastosis virus E2 oncogene homolog 1
    v-ets avian erythroblastosis virus E26 oncogene homolog 1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029555.1 RefSeqGene

      Range
      5001..133794
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001143820.2 → NP_001137292.1  protein C-ets-1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK001630, AP003397, BX640634
      Consensus CDS
      CCDS44767.1
      UniProtKB/TrEMBL
      Q5U0M2, Q6FG54
      Related
      ENSP00000376436.3, ENST00000392668.8
      Conserved Domains (2) summary
      cd08542
      Location:95 → 182
      SAM_PNT-ETS-1; Sterile alpha motif (SAM)/Pointed domain of ETS-1
      smart00413
      Location:378 → 462
      ETS; erythroblast transformation specific domain

    2. NM_001162422.2 → NP_001155894.1  protein C-ets-1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate promoter, and differs in the 5' UTR and 5' coding region compared to variant 1. It is also missing four consecutive in-frame coding exons, resulting in a shorter isoform (3, also known as Ets-1 p27) with a distinct N-terminus and lacking an internal protein segment compared to isoform 1. This isoform has been shown to exert a dominant negative effect on the transcriptional properties and the subcellular localization of Ets-1 p51 isoform (PMID:19377509).
      Source sequence(s)
      AK001630, AK291840, AK301405, AP003397, BM468663, BX640634, CA407336
      Consensus CDS
      CCDS53724.1
      UniProtKB/Swiss-Prot
      P14921
      UniProtKB/TrEMBL
      A8K725, B4DW78
      Related
      ENSP00000441430.1, ENST00000535549.5
      Conserved Domains (1) summary
      smart00413
      Location:118 → 202
      ETS; erythroblast transformation specific domain

    3. NM_001330451.2 → NP_001317380.1  protein C-ets-1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an alternate promoter, differs in the 5' UTR, and has multiple differences in the coding region compared to variant 1. The encoded isoform (4) is shorter than and has a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AP003397
      Consensus CDS
      CCDS81648.1
      UniProtKB/TrEMBL
      Q5U0M2, Q6FG54
      Related
      ENSP00000433500.1, ENST00000526145.6

    4. NM_005238.4 → NP_005229.1  protein C-ets-1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate promoter, and differs in the 5' UTR and 5' coding region compared to variant 1. The resulting isoform (2, also known as Ets-1 p51) is shorter with a distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AK001630, AK301405, AP003397, BP365215, J04101
      Consensus CDS
      CCDS8475.1
      UniProtKB/Swiss-Prot
      A9UL17, F5GYX9, P14921, Q14278, Q16080, Q6N087, Q96AC5
      UniProtKB/TrEMBL
      Q5U0M2, Q6FG54
      Related
      ENSP00000324578.5, ENST00000319397.7
      Conserved Domains (2) summary
      cd08542
      Location:51 → 138
      SAM_PNT-ETS-1; Sterile alpha motif (SAM)/Pointed domain of ETS-1
      smart00413
      Location:334 → 418
      ETS; erythroblast transformation specific domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      128458765..128587558 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017314.2 → XP_016872803.1  protein C-ets-1 isoform X1

      UniProtKB/TrEMBL
      Q5U0M2, Q6FG54
      Conserved Domains (2) summary
      cd08542
      Location:95 → 182
      SAM_PNT-ETS-1; Sterile alpha motif (SAM)/Pointed domain of ETS-1
      smart00413
      Location:378 → 462
      ETS; erythroblast transformation specific domain

    2. XM_017017315.3 → XP_016872804.1  protein C-ets-1 isoform X3

      UniProtKB/TrEMBL
      Q5U0M2, Q6FG54

    3. XM_047426527.1 → XP_047282483.1  protein C-ets-1 isoform X6

    4. XM_047426525.1 → XP_047282481.1  protein C-ets-1 isoform X4

    5. XM_011542650.2 → XP_011540952.1  protein C-ets-1 isoform X2

      UniProtKB/TrEMBL
      Q5U0M2, Q6FG54
      Conserved Domains (2) summary
      cd08542
      Location:85 → 172
      SAM_PNT-ETS-1; Sterile alpha motif (SAM)/Pointed domain of ETS-1
      smart00413
      Location:368 → 452
      ETS; erythroblast transformation specific domain

    6. XM_047426526.1 → XP_047282482.1  protein C-ets-1 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      128492108..128620806 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367972.1 → XP_054223947.1  protein C-ets-1 isoform X3

    2. XM_054367970.1 → XP_054223945.1  protein C-ets-1 isoform X1

    3. XM_054367973.1 → XP_054223948.1  protein C-ets-1 isoform X7

    4. XM_054367971.1 → XP_054223946.1  protein C-ets-1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P14921.1 GenPept UniProtKB/Swiss-Prot:P14921

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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