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

Summary

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; AllianceGenome:HGNC:3319
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; AIFBL2
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
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Genomic context

Location:: Xq26.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (130063955..130111927, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (128382755..128429692, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (129197930..129244866, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human.
Title: Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human.
[ELF4 promotes proliferation and inhibits apoptosis of human insulinoma cells by activating Akt signaling].
Title: [ELF4 promotes proliferation and inhibits apoptosis of human insulinoma cells by activating Akt signaling].
High ELF4 expression in human cancers is associated with worse disease outcomes and increased resistance to anticancer drugs.
Title: High ELF4 expression in human cancers is associated with worse disease outcomes and increased resistance to anticancer drugs.
Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.
Title: Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.
Elf4 regulates lysosomal biogenesis and the mTOR pathway to promote clearance of Staphylococcus aureus in macrophages.
Title: Elf4 regulates lysosomal biogenesis and the mTOR pathway to promote clearance of Staphylococcus aureus in macrophages.
Hepatitis B Virus-Telomerase Reverse Transcriptase Promoter Integration Harnesses Host ELF4, Resulting in Telomerase Reverse Transcriptase Gene Transcription in Hepatocellular Carcinoma.
Title: Hepatitis B Virus-Telomerase Reverse Transcriptase Promoter Integration Harnesses Host ELF4, Resulting in Telomerase Reverse Transcriptase Gene Transcription in Hepatocellular Carcinoma.
ELF4 Is a Target of miR-124 and Promotes Neuroblastoma Proliferation and Undifferentiated State.
Title: <i>ELF4</i> Is a Target of miR-124 and Promotes Neuroblastoma Proliferation and Undifferentiated State.
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].
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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

Associated conditions

Description	Tests
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 MedGen: CN307999 OMIM: 301074 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
GWAS of dental caries patterns in the permanent dentition. 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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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

MARC_21518-21519:1033045704:1 (e-PCR)
- UniSTS:268566

RH71459 (e-PCR)
- UniSTS:82208

DXS7909 (e-PCR)
- UniSTS:99362

AL008912 (e-PCR)
- UniSTS:66608

STS-T70285 (e-PCR)
- UniSTS:25423

RH11198 (e-PCR)
- UniSTS:8561

Homology

Homologs of the ELF4 gene: The ELF4 gene is conserved in Rhesus monkey, dog, cow, mouse, and rat.
Orthologs from Annotation Pipeline: 192 organisms have orthologs with human gene ELF4
Orthologs

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, 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 NK T cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in natural killer cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay 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

Component	Evidence Code	Pubs
located_in PML body	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nuclear body	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

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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

NG_016388.1 RefSeqGene

Range

5001..50794

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_335

mRNA and Protein(s)

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

O60435, 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
NM_001421.4 → 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

O60435, Q99607

Related

ENSP00000311280.6, ENST00000308167.10

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 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

130063955..130111927 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441900.1 → XP_047297856.1 ETS-related transcription factor Elf-4 isoform X1

UniProtKB/Swiss-Prot

O60435
XM_005262389.4 → 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

O60435, 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
XM_011531308.4 → XP_011529610.1 ETS-related transcription factor Elf-4 isoform X2

Conserved Domains (2) summary

pfam00178
Location:134 → 213

Ets; Ets-domain

pfam12310
Location:6 → 27

Elf-1_N; Transcription factor protein N terminal