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

Gene ID: 2113, updated on 20-Jan-2019

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
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

Genomic context

See ETS1 in Genome Data Viewer
Location:
11q24.3
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (128458761..128587593, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (128328656..128457453, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984408 Neighboring gene CAGE-defined T cell enhancer downstream of ETS1 Neighboring gene ETS1 antisense RNA 1 Neighboring gene microRNA 6090 Neighboring gene uncharacterized LOC105369565 Neighboring gene uncharacterized LOC105369568 Neighboring gene uncharacterized LOC101929538 Neighboring gene Fli-1 proto-oncogene, ETS transcription factor

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10768

Gene Ontology Provided by GOA

Process Evidence Code Pubs
PML body organization IDA
Inferred from Direct Assay
more info
PubMed 
angiogenesis involved in wound healing IEA
Inferred from Electronic Annotation
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
estrous cycle IEA
Inferred from Electronic Annotation
more info
 
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
hypothalamus development IEA
Inferred from Electronic Annotation
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
 
pituitary gland development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of blood vessel endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cellular component movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of erythrocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of inflammatory response IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of leukocyte adhesion to vascular endothelial cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
pri-miRNA transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of extracellular matrix disassembly IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to estradiol IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to interleukin-1 IEA
Inferred from Electronic Annotation
more info
 
response to laminar fluid shear stress IEA
Inferred from Electronic Annotation
more info
 
response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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..133798
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001143820.2NP_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/Swiss-Prot
    P14921
    Related
    ENSP00000376436.3, ENST00000392668.8
    Conserved Domains (2) summary
    cd08542
    Location:95182
    SAM_PNT-ETS-1; Sterile alpha motif (SAM)/Pointed domain of ETS-1
    smart00413
    Location:378462
    ETS; erythroblast transformation specific domain
  2. NM_001162422.1NP_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:118202
    ETS; erythroblast transformation specific domain
  3. NM_001330451.1NP_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/Swiss-Prot
    P14921
    Related
    ENSP00000433500.1, ENST00000526145.6
  4. NM_005238.3NP_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
    P14921
    UniProtKB/TrEMBL
    B4DW78
    Related
    ENSP00000324578.5, ENST00000319397.6
    Conserved Domains (2) summary
    cd08542
    Location:51138
    SAM_PNT-ETS-1; Sterile alpha motif (SAM)/Pointed domain of ETS-1
    smart00413
    Location:334418
    ETS; erythroblast transformation specific domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    128458761..128587593 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017317.1XP_016872806.1  protein C-ets-1 isoform X4

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

    Conserved Domains (2) summary
    cd08542
    Location:85172
    SAM_PNT-ETS-1; Sterile alpha motif (SAM)/Pointed domain of ETS-1
    smart00413
    Location:368452
    ETS; erythroblast transformation specific domain
  3. XM_017017314.1XP_016872803.1  protein C-ets-1 isoform X1

    UniProtKB/Swiss-Prot
    P14921
    Conserved Domains (2) summary
    cd08542
    Location:95182
    SAM_PNT-ETS-1; Sterile alpha motif (SAM)/Pointed domain of ETS-1
    smart00413
    Location:378462
    ETS; erythroblast transformation specific domain
  4. XM_017017315.2XP_016872804.1  protein C-ets-1 isoform X3

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