ETV3 ETS variant transcription factor 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ETV3provided by HGNC
Official Full Name: ETS variant transcription factor 3provided by HGNC
Primary source: HGNC:HGNC:3492
See related: Ensembl:ENSG00000117036 MIM:164873; AllianceGenome:HGNC:3492
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PE1; METS; PE-1
Summary: Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in skin (RPKM 12.1), gall bladder (RPKM 6.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (157121191..157138395, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (156258040..156275241, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (157090983..157108187, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

ETV3 and ETV6 enable monocyte differentiation into dendritic cells by repressing macrophage fate commitment.
Title: ETV3 and ETV6 enable monocyte differentiation into dendritic cells by repressing macrophage fate commitment.
Case Reports/Review: indeterminate dendritic cell tumor lacking the ETV3-NCOA2 translocation.
Title: Indeterminate Dendritic Cell Tumor: A Report of Two New Cases Lacking the ETV3-NCOA2 Translocation and a Literature Review.
Frequent copy number gains at 1q21 and 1q32 are associated with overexpression of the ETS transcription factors ETV3 and ELF3 in breast cancer irrespective of molecular subtypes.
Title: Frequent copy number gains at 1q21 and 1q32 are associated with overexpression of the ETS transcription factors ETV3 and ELF3 in breast cancer irrespective of molecular subtypes.
The ETV3 expression was strongly induced by the STAT3 pathway regulated by IL-10 but not by STAT3 signaling activated by IL-6, which cannot activate the anti-inflammatory signaling pathway.
Title: Cutting edge: A transcriptional repressor and corepressor induced by the STAT3-regulated anti-inflammatory signaling pathway.
Differential repression of c-myc and cdc2 gene expression by ERF and PE-1/METS.
Title: Differential repression of c-myc and cdc2 gene expression by ERF and PE-1/METS.
PE-1/METS is an antiproliferative Ets repressor factor induced by CREB-1/CREM-1 during macrophage differentiation
Title: PE-1/METS, an antiproliferative Ets repressor factor, is induced by CREB-1/CREM-1 during macrophage differentiation.

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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
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. 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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Replication interactions

Interaction	Pubs
Knockdown of ets variant 3 (ETV3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	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

D1S3438 (e-PCR)
- UniSTS:28510

RH17623 (e-PCR)
- UniSTS:29311

D1S2332E (e-PCR)
- UniSTS:153787

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DEAD/H-box RNA helicase binding	IEA Inferred from Electronic Annotation more info
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	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to granulocyte macrophage colony-stimulating factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription repressor complex	IEA Inferred from Electronic Annotation more info
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ETS translocation variant 3

Names: ETS domain transcriptional repressor PE1; ets variant gene 3, ETS family transcriptional repressor; mitogenic Ets transcriptional suppressor

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.

mRNA and Protein(s)

NM_001145312.3 → NP_001138784.1 ETS translocation variant 3 isoform 1

See identical proteins and their annotated locations for NP_001138784.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and predicted protein isoform (1).

Source sequence(s)

AK316274, AL157713, BU690105

Consensus CDS

CCDS44250.1

UniProtKB/Swiss-Prot

B4E3M7, P41162, Q8TAC8, Q9BX30

Related

ENSP00000357175.4, ENST00000368192.9

Conserved Domains (1) summary

smart00413
Location:34 → 120

ETS; erythroblast transformation specific domain
NM_005240.3 → NP_005231.1 ETS translocation variant 3 isoform 2

See identical proteins and their annotated locations for NP_005231.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents a shorter transcript, compared to transcript variant 1. The predicted protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.

Source sequence(s)

AL157713, BC022868

Consensus CDS

CCDS1164.1

UniProtKB/Swiss-Prot

P41162

Related

ENSP00000327316.4, ENST00000326786.4

Conserved Domains (1) summary

smart00413
Location:34 → 120

ETS; erythroblast transformation specific domain