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ETV1 ETS variant transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 2115, updated on 17-May-2023

Summary

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Official Symbol
ETV1provided by HGNC
Official Full Name
ETS variant transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:3490
See related
Ensembl:ENSG00000006468 MIM:600541; AllianceGenome:HGNC:3490
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
ER81
Summary
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]
Expression
Biased expression in brain (RPKM 22.4), salivary gland (RPKM 11.8) and 12 other tissues See more
Orthologs
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Genomic context

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See ETV1 in Genome Data Viewer
Location:
7p21.2
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (13891229..13991425, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (14023217..14123457, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (13930854..14031050, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:13846329-13847091 Neighboring gene ribosomal protein L26 pseudogene 21 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:14024671-14025465 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:14030811-14031312 Neighboring gene uncharacterized LOC105375162 Neighboring gene solute carrier family 34 member 2 pseudogene Neighboring gene NANOG hESC enhancer GRCh37_chr7:14104855-14105356

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
  • 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. ETV1 Positively Correlated With Immune Infiltration and Poor Clinical Prognosis in Colorectal Cancer. Shen X, et al. Front Immunol, 2022. PMID 35860243, Free PMC Article
  2. Low ETV1 mRNA expression is associated with recurrence in gastrointestinal stromal tumors. Sakamaki K, et al. Sci Rep, 2020 Sep 8. PMID 32901065, Free PMC Article
  3. Dualism of FGF and TGF-β Signaling in Heterogeneous Cancer-Associated Fibroblast Activation with ETV1 as a Critical Determinant. Bordignon P, et al. Cell Rep, 2019 Aug 27. PMID 31461652, Free PMC Article
  4. Strong cytoplasmic ETV1 expression has a negative impact on prostate cancer outcome. Segalés L, et al. Virchows Arch, 2019 Oct. PMID 31016435
  5. Genome-wide analysis of ETV1 targets: Insights into the role of ETV1 in tumor progression. Eid W, et al. J Cell Biochem, 2019 Jun. PMID 30629294

See all (108) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. HGF-mediated elevation of ETV1 facilitates hepatocellular carcinoma metastasis through upregulating PTK2 and c-MET.
    Title: HGF-mediated elevation of ETV1 facilitates hepatocellular carcinoma metastasis through upregulating PTK2 and c-MET.
  2. ETV1 Positively Correlated With Immune Infiltration and Poor Clinical Prognosis in Colorectal Cancer.
    Title: ETV1 Positively Correlated With Immune Infiltration and Poor Clinical Prognosis in Colorectal Cancer.
  3. Frequent copy number gains of SLC2A3 and ETV1 in testicular embryonal carcinomas.
    Title: Frequent copy number gains of SLC2A3 and ETV1 in testicular embryonal carcinomas.
  4. Cooperation between ETS transcription factor ETV1 and histone demethylase JMJD1A in colorectal cancer.
    Title: Cooperation between ETS transcription factor ETV1 and histone demethylase JMJD1A in colorectal cancer.
  5. Low ETV1 mRNA expression is associated with recurrence in gastrointestinal stromal tumors.
    Title: Low ETV1 mRNA expression is associated with recurrence in gastrointestinal stromal tumors.
  6. Identification of regulatory mRNA and microRNA for differentiation into cementoblasts and periodontal ligament cells.
    Title: Identification of regulatory mRNA and microRNA for differentiation into cementoblasts and periodontal ligament cells.
  7. A novel PTPRZ1-ETV1 fusion in gliomas.
    Title: A novel PTPRZ1-ETV1 fusion in gliomas.
  8. Biosynthetic CircRNA_001160 induced by PTBP1 regulates the permeability of BTB via the CircRNA_001160/miR-195-5p/ETV1 axis.
    Title: Biosynthetic CircRNA_001160 induced by PTBP1 regulates the permeability of BTB via the CircRNA_001160/miR-195-5p/ETV1 axis.
  9. Dualism of FGF and TGF-beta Signaling in Heterogeneous Cancer-Associated Fibroblast Activation with ETV1 as a Critical Determinant.
    Title: Dualism of FGF and TGF-β Signaling in Heterogeneous Cancer-Associated Fibroblast Activation with ETV1 as a Critical Determinant.
  10. Findings cast light on genes and networks regulated by ETV1 in prostate cancer cells, and open new fronts for studying the role of ETV1 and its target genes in tumorigenesis.
    Title: Genome-wide analysis of ETV1 targets: Insights into the role of ETV1 in tumor progression.
Submit: New GeneRIF Correction See all GeneRIFs (66)

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
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
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

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

  • MGC104699, MGC120533, MGC120534, DKFZp781L0674

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity TAS
Traceable Author Statement
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in axon guidance IEA
Inferred from Electronic Annotation
more info
  
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in mechanosensory behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in muscle organ development IEA
Inferred from Electronic Annotation
more info
  
involved_in peripheral nervous system neuron development TAS
Traceable Author Statement
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 transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
ETS translocation variant 1
Names
ets variant gene 1
ets-related protein 81

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

  1. NG_029795.1 RefSeqGene

    Range
    6760..105197
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001163147.2 → NP_001156619.1  ETS translocation variant 1 isoform b

    See identical proteins and their annotated locations for NP_001156619.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR and an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a. This isoform contains the N-terminal TAD.
    Source sequence(s)
    AB209202, AC004857, BC098403, BU737178, DA114165
    Consensus CDS
    CCDS55087.1
    UniProtKB/Swiss-Prot
    P50549
    Related
    ENSP00000385381.2, ENST00000405192.6
    Conserved Domains (2) summary
    smart00413
    Location:311 → 395
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:1 → 310
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

  2. NM_001163148.2 → NP_001156620.1  ETS translocation variant 1 isoform c

    See identical proteins and their annotated locations for NP_001156620.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents use of an alternate promoter and 5' UTR, and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (c) lacks an internal segment near the N-terminus, compared to isoform a. Both variants 3 and 4 encode the same isoform. This isoform contains a truncated TAD.
    Source sequence(s)
    AC004857, AK294755, BU737178, DB093597, DB099964
    Consensus CDS
    CCDS55086.1
    UniProtKB/Swiss-Prot
    P50549
    Related
    ENSP00000242066.5, ENST00000242066.9
    Conserved Domains (2) summary
    smart00413
    Location:316 → 400
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2 → 315
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

  3. NM_001163149.2 → NP_001156621.1  ETS translocation variant 1 isoform c

    See identical proteins and their annotated locations for NP_001156621.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents use of an alternate promoter and 5' UTR, and lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (c) lacks an internal segment near the N-terminus, compared to isoform a. Both variants 3 and 4 encode the same isoform. This isoform contains a truncated TAD.
    Source sequence(s)
    AC004857, AC004909, BC098403, BU737178, X87175
    Consensus CDS
    CCDS55086.1
    UniProtKB/Swiss-Prot
    P50549
    Related
    ENSP00000385686.1, ENST00000403685.5
    Conserved Domains (2) summary
    smart00413
    Location:316 → 400
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2 → 315
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

  4. NM_001163150.2 → NP_001156622.1  ETS translocation variant 1 isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents use of an alternate promoter, 5' UTR, and 5' coding region, compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus, compared to isoform a. This isoform lacks major part of the N-terminal TAD.
    Source sequence(s)
    AC004857, AK294572, BC098403, BU737178, DC308837
    Consensus CDS
    CCDS55085.1
    UniProtKB/Swiss-Prot
    P50549
    UniProtKB/TrEMBL
    B7Z2C9
    Related
    ENSP00000384138.1, ENST00000403527.6
    Conserved Domains (2) summary
    smart00413
    Location:294 → 378
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:21 → 293
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

  5. NM_001163151.2 → NP_001156623.1  ETS translocation variant 1 isoform e

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) represents use of an alternate promoter, 5' UTR, 5' coding region, and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (e) has a shorter and distinct N-terminus, compared to isoform a. This isoform lacks the N-terminal TAD.
    Source sequence(s)
    AC004857, AK299693, BU737178
    Consensus CDS
    CCDS55083.1
    UniProtKB/Swiss-Prot
    P50549
    Related
    ENSP00000393078.2, ENST00000438956.6
    Conserved Domains (2) summary
    smart00413
    Location:276 → 360
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:21 → 275
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

  6. NM_001163152.2 → NP_001156624.1  ETS translocation variant 1 isoform f

    See identical proteins and their annotated locations for NP_001156624.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) represents use of an alternate promoter, 5' UTR, 5' coding region, and lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (f) has a shorter and distinct N-terminus and lacks an internal segment, compared to isoform a. This isoform lacks major part of the N-terminal TAD.
    Source sequence(s)
    AC004857, AK299693, AK316007, BU737178
    Consensus CDS
    CCDS55084.1
    UniProtKB/Swiss-Prot
    P50549
    Related
    ENSP00000394710.2, ENST00000443608.6
    Conserved Domains (2) summary
    smart00413
    Location:231 → 315
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:21 → 230
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

  7. NM_001370555.1 → NP_001357484.1  ETS translocation variant 1 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC004857, AC004909
    Consensus CDS
    CCDS55088.1
    UniProtKB/Swiss-Prot
    Q9Y636
    Conserved Domains (2) summary
    smart00413
    Location:334 → 418
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2 → 333
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

  8. NM_001370556.1 → NP_001357485.1  ETS translocation variant 1 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC004857
    Conserved Domains (2) summary
    smart00413
    Location:318 → 402
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2 → 317
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

  9. NM_004956.5 → NP_004947.2  ETS translocation variant 1 isoform a

    See identical proteins and their annotated locations for NP_004947.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). This isoform contains the N-terminal TAD.
    Source sequence(s)
    AC004857, BC098403, BU737178
    Consensus CDS
    CCDS55088.1
    UniProtKB/Swiss-Prot
    P50549, Q9Y636
    Related
    ENSP00000405327.1, ENST00000430479.6
    Conserved Domains (2) summary
    smart00413
    Location:334 → 418
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2 → 333
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

RNA

  1. NR_120445.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) contains an alternate 5' exon and includes an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC004857, BC045776, BU737178, DB099964

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    13891229..13991425 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515168.4 → XP_011513470.1  ETS translocation variant 1 isoform X2

    See identical proteins and their annotated locations for XP_011513470.1

    UniProtKB/Swiss-Prot
    P50549, Q9Y636
    Conserved Domains (2) summary
    smart00413
    Location:334 → 418
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:2 → 333
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

  2. XM_047419985.1 → XP_047275941.1  ETS translocation variant 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9Y636

  3. XM_047419987.1 → XP_047275943.1  ETS translocation variant 1 isoform X5

  4. XM_047419986.1 → XP_047275942.1  ETS translocation variant 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9Y636
    Related
    ENSP00000385551.2, ENST00000405218.6

  5. XM_047419988.1 → XP_047275944.1  ETS translocation variant 1 isoform X5

  6. XM_011515170.4 → XP_011513472.1  ETS translocation variant 1 isoform X4

    Conserved Domains (2) summary
    smart00413
    Location:329 → 413
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:11 → 328
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

  7. XM_024446676.2 → XP_024302444.1  ETS translocation variant 1 isoform X3

    Conserved Domains (2) summary
    smart00413
    Location:330 → 414
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:29 → 329
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

  8. XM_011515167.4 → XP_011513469.1  ETS translocation variant 1 isoform X1

    UniProtKB/TrEMBL
    B5MCT2
    Related
    ENSP00000384085.4, ENST00000405358.8
    Conserved Domains (2) summary
    smart00413
    Location:348 → 432
    ETS; erythroblast transformation specific domain
    pfam04621
    Location:29 → 347
    ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    14023217..14123457 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357473.1 → XP_054213448.1  ETS translocation variant 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9Y636

  2. XM_054357474.1 → XP_054213449.1  ETS translocation variant 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9Y636

  3. XM_054357478.1 → XP_054213453.1  ETS translocation variant 1 isoform X5

  4. XM_054357475.1 → XP_054213450.1  ETS translocation variant 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9Y636

  5. XM_054357479.1 → XP_054213454.1  ETS translocation variant 1 isoform X5

  6. XM_054357477.1 → XP_054213452.1  ETS translocation variant 1 isoform X4

  7. XM_054357472.1 → XP_054213447.1  ETS translocation variant 1 isoform X1

    UniProtKB/TrEMBL
    B5MCT2

  8. XM_054357476.1 → XP_054213451.1  ETS translocation variant 1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P50549.2 GenPept UniProtKB/Swiss-Prot:P50549

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