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ELF4 E74 like ETS transcription factor 4 [ Homo sapiens (human) ]

Gene ID: 2000, updated on 11-Sep-2019

Summary

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Official Symbol
ELF4provided by HGNC
Official Full Name
E74 like ETS transcription factor 4provided by HGNC
Primary source
HGNC:HGNC:3319
See related
Ensembl:ENSG00000102034 MIM:300775
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
MEF; ELFR
Summary
The protein encoded by this gene is a transcriptional activator that binds and activates the promoters of the CSF2, IL3, IL8, and PRF1 genes. The encoded protein is involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]
Expression
Broad expression in bone marrow (RPKM 18.8), placenta (RPKM 12.9) and 21 other tissues See more
Orthologs
mouse all

Genomic context

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See ELF4 in Genome Data Viewer
Location:
Xq26.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (130064874..130110891, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (129198895..129244688, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373335 Neighboring gene UTP14A small subunit processome component Neighboring gene BCL6 corepressor like 1 Neighboring gene RAB33A, member RAS oncogene family Neighboring gene apoptosis inducing factor mitochondria associated 1 Neighboring gene zinc finger protein 280C

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. Functional dissection of the ETS transcription factor MEF. Suico MA, et al. Biochim Biophys Acta, 2002 Aug 19. PMID 12151102
  2. The ETS Factor Myeloid Elf-1-Like Factor (MEF)/Elf4 Is Transcriptionally and Functionally Activated by Hypoxia. Suico MA, et al. Biol Pharm Bull, 2016. PMID 27040637
  3. MEF promotes stemness in the pathogenesis of gliomas. Bazzoli E, et al. Cell Stem Cell, 2012 Dec 7. PMID 23217424, Free PMC Article
  4. ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22). Moore SD, et al. Leuk Res, 2006 Aug. PMID 16303180
  5. Sp1-dependent regulation of Myeloid Elf-1 like factor in human epithelial cells. Koga T, et al. FEBS Lett, 2005 May 23. PMID 15907486

See all (30) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The decreased expression of miR-365 in human cervical cancer cells relieves its inhibitory effect on ELF4, which promotes the proliferation of cervical cancer cells and the formation of tumor.
    Title: [Proliferation of MicroRNA-365 and E74-like Factor 4 in Cervical Cancer Cells and Its Clinical Significance].
  2. Overall, these data indicate that hypoxia or HIF-1alpha positively regulates MEF expression and function.
    Title: The ETS Factor Myeloid Elf-1-Like Factor (MEF)/Elf4 Is Transcriptionally and Functionally Activated by Hypoxia.
  3. The genes BCL6, NFE2, POU4F2 and ELF4 are primary 1,25(OH)2D3 targets in THP-1 cells
    Title: The transcriptional regulator BCL6 participates in the secondary gene regulatory response to vitamin D.
  4. The p53-MDM2-MEF axis is a feedback mechanism that exquisitely controls the balance of these transcriptional regulators.
    Title: The transcription factor MEF/Elf4 is dually modulated by p53-MDM2 axis and MEF-MDM2 autoregulatory mechanism.
  5. These studies implicate MEF as a previously unrecognized gatekeeper gene in gliomagenesis that promotes stem cell characteristics through Sox2 activation.
    Title: MEF promotes stemness in the pathogenesis of gliomas.
  6. enhanced HDM2 expression induced by mutant NPM1 may have a role in MEF/ELF4-dependent leukemogenesis
    Title: Mutations in the nucleolar phosphoprotein, nucleophosmin, promote the expression of the oncogenic transcription factor MEF/ELF4 in leukemia cells and potentiates transformation.
  7. MEF is involved in PTH suppression of osteoblasts through activating the MKK4/JNK1 pathway and subsequently up-regulating Mab21l1 expression.
    Title: PTH regulates myleoid ELF-1-like factor (MEF)-induced MAB-21-like-1 (MAB21L1) expression through the JNK1 pathway.
  8. Loss of ELF4 leads to increased quiescence in bone marrow endothelial cells by the deregulation of cyclin-dependent kinase-4 expression and to enhanced regeneration of sinusoidal blood vessels.
    Title: The transcription factor E74-like factor controls quiescence of endothelial cells and their resistance to myeloablative treatments in bone marrow.
  9. regulation in epithelial cells by Sp1
    Title: Sp1-dependent regulation of Myeloid Elf-1 like factor in human epithelial cells.
  10. RT-PCR analysis of RNA isolated from bone marrow samples from the patient demonstrates that the translocation occurs within intron 1 of ERG isoform 1 and intron 2 of ELF4 resulting in an in-frame fusion joining exon 2 from ELF4 with exon 2 of ERG.
    Title: ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22).
Submit: New GeneRIF Correction See all GeneRIFs (14)

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

NHGRI GWAS Catalog

Description
GWAS of dental caries patterns in the permanent dentition.
NHGRI GWA 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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of E74-like factor 4 (ELF4) in human B 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
 PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific NAS
Non-traceable Author Statement
more info
 PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
NK T cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
  
natural killer cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
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 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
PML body IDA
Inferred from Direct Assay
more info
 PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
  
nucleoplasm IDA
Inferred from Direct Assay
more info
  
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
ETS-related transcription factor Elf-4
Names
E74-like factor 4 (ets domain transcription factor)
myeloid Elf-1-like factor

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_016388.1 RefSeqGene

    Range
    5001..50794
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_335

mRNA and Protein(s)

  1. NM_001127197.2 → NP_001120669.1  ETS-related transcription factor Elf-4

    See identical proteins and their annotated locations for NP_001120669.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AK314972, AL136450, BC017194, Z81363
    Consensus CDS
    CCDS14617.1
    UniProtKB/Swiss-Prot
    Q99607
    Related
    ENSP00000338608.7, ENST00000335997.11
    Conserved Domains (2) summary
    smart00413
    Location:208 → 290
    ETS; erythroblast transformation specific domain
    pfam12310
    Location:2 → 104
    Elf-1_N; Transcription factor protein N terminal

  2. NM_001421.3 → NP_001412.1  ETS-related transcription factor Elf-4

    See identical proteins and their annotated locations for NP_001412.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL136450, CD364651, CN314421, DN999740, U32645
    Consensus CDS
    CCDS14617.1
    UniProtKB/Swiss-Prot
    Q99607
    Related
    ENSP00000311280.5, ENST00000308167.9
    Conserved Domains (2) summary
    smart00413
    Location:208 → 290
    ETS; erythroblast transformation specific domain
    pfam12310
    Location:2 → 104
    Elf-1_N; Transcription factor protein N terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    130064874..130110891 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531307.3 → XP_011529609.1  ETS-related transcription factor Elf-4 isoform X2

    Conserved Domains (2) summary
    pfam00178
    Location:143 → 222
    Ets; Ets-domain
    pfam12310
    Location:1 → 36
    Elf-1_N; Transcription factor protein N terminal

  2. XM_005262389.3 → XP_005262446.1  ETS-related transcription factor Elf-4 isoform X1

    See identical proteins and their annotated locations for XP_005262446.1

    UniProtKB/Swiss-Prot
    Q99607
    Conserved Domains (2) summary
    smart00413
    Location:208 → 290
    ETS; erythroblast transformation specific domain
    pfam12310
    Location:2 → 104
    Elf-1_N; Transcription factor protein N terminal

  3. XM_011531308.3 → XP_011529610.1  ETS-related transcription factor Elf-4 isoform X3

    Conserved Domains (2) summary
    pfam00178
    Location:134 → 213
    Ets; Ets-domain
    pfam12310
    Location:6 → 27
    Elf-1_N; Transcription factor protein N terminal
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99607.1 GenPept UniProtKB/Swiss-Prot:Q99607

Gene LinkOut

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