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

Gene ID: 2117, updated on 23-Nov-2021

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
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
Expression
Ubiquitous expression in skin (RPKM 12.1), gall bladder (RPKM 6.8) and 25 other tissues See more
Orthologs
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Genomic context

See ETV3 in Genome Data Viewer
Location:
1q23.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (157121191..157138575, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (157090983..157108187, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene keratin 8 pseudogene 45 Neighboring gene ETS variant transcription factor 3 like Neighboring gene CYCS pseudogene 52 Neighboring gene uncharacterized LOC107985211 Neighboring gene uncharacterized LOC105371456 Neighboring gene CRISPRi-validated cis-regulatory element chr1.9249 Neighboring gene long intergenic non-protein coding RNA 2772

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
GeneReviews: Not available

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ79173

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of RNA polymerase II transcription repressor complex IEA
Inferred from Electronic Annotation
more info
 
located_in 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
PubMed 

General protein information

Preferred Names
ETS translocation variant 3
Names
ETS domain transcriptional repressor PE1
ETS variant 3
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)

  1. NM_001145312.3NP_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
    P41162
    Related
    ENSP00000357175.4, ENST00000368192.9
    Conserved Domains (1) summary
    smart00413
    Location:34120
    ETS; erythroblast transformation specific domain
  2. NM_005240.3NP_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:34120
    ETS; erythroblast transformation specific domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    157121191..157138575 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006711210.2XP_006711273.1  ETS translocation variant 3 isoform X1

    See identical proteins and their annotated locations for XP_006711273.1

    UniProtKB/Swiss-Prot
    P41162
    Conserved Domains (1) summary
    smart00413
    Location:34120
    ETS; erythroblast transformation specific domain
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