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

Summary

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

Location:: 11q24.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (128458765..128587558, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (128492108..128620806, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (128328660..128457453, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
Downregulation of circETS1 disrupts Th17/Treg homeostasis by inhibiting FOXP3 transcription: A new potential biomarker in systemic lupus erythematosus.
Title: Downregulation of circETS1 disrupts Th17/Treg homeostasis by inhibiting FOXP3 transcription: A new potential biomarker in systemic lupus erythematosus.
LINC00922 decoys SIRT3 to facilitate the metastasis of colorectal cancer through up-regulation the H3K27 crotonylation of ETS1 promoter.
Title: LINC00922 decoys SIRT3 to facilitate the metastasis of colorectal cancer through up-regulation the H3K27 crotonylation of ETS1 promoter.
MiR-193b-3p Regulates TLR4 Expression to Inhibit Inflammation by Targeting ETS1 in Allergic Rhinitis.
Title: MiR-193b-3p Regulates TLR4 Expression to Inhibit Inflammation by Targeting ETS1 in Allergic Rhinitis.
ETS-1-activated LINC01016 over-expression promotes tumor progression via suppression of RFFL-mediated DHX9 ubiquitination degradation in breast cancers.
Title: ETS-1-activated LINC01016 over-expression promotes tumor progression via suppression of RFFL-mediated DHX9 ubiquitination degradation in breast cancers.
LncRNA HOTAIRM1 promotes osteogenic differentiation of human bone marrow-derived mesenchymal stem cells by targeting miR-152-3p/ETS1 axis.
Title: LncRNA HOTAIRM1 promotes osteogenic differentiation of human bone marrow-derived mesenchymal stem cells by targeting miR-152-3p/ETS1 axis.
The Epigenetic Reader, Bromodomain Containing 2, Mediates Cholangiocyte Senescence via Interaction With ETS Proto-Oncogene 1.
Title: The Epigenetic Reader, Bromodomain Containing 2, Mediates Cholangiocyte Senescence via Interaction With ETS Proto-Oncogene 1.
Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia.
Title: Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia.

Submit: New GeneRIF Correction See all GeneRIFs (349)

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 EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide Association Study Identifies Five Susceptibility Loci for Follicular Lymphoma outside the HLA Region. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus. EBI GWAS Catalog EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multiple common variants for celiac disease influencing immune gene expression. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

ETS1 (e-PCR), detects polymorphism
- UniSTS:9013

ETS1 (e-PCR), detects polymorphism
- UniSTS:278354

ETS1_2320 (e-PCR)
- UniSTS:280661

RH79103 (e-PCR)
- UniSTS:22111

RH138700 (e-PCR)
- UniSTS:220787

RH80963 (e-PCR)
- UniSTS:91266

WI-18124 (e-PCR)
- UniSTS:62092

D11S4369 (e-PCR)
- UniSTS:63384

WS29 (e-PCR)
- UniSTS:677

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 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 transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of 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

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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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

NG_029555.1 RefSeqGene

Range

5001..133794

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for NP_001137292.1

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

See identical proteins and their annotated locations for NP_001155894.1

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

See identical proteins and their annotated locations for NP_005229.1

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

128458765..128587558 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q5U0M2, Q6FG54
XM_047426527.1 → XP_047282483.1 protein C-ets-1 isoform X6
XM_047426525.1 → XP_047282481.1 protein C-ets-1 isoform X4
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
XM_047426526.1 → XP_047282482.1 protein C-ets-1 isoform X5