EGR1 early growth response 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EGR1provided by HGNC
Official Full Name: early growth response 1provided by HGNC
Primary source: HGNC:HGNC:3238
See related: Ensembl:ENSG00000120738 MIM:128990
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: TIS8; AT225; G0S30; NGFI-A; ZNF225; KROX-24; ZIF-268
Summary: The protein encoded by this gene belongs to the EGR family of C2H2-type zinc-finger proteins. It is a nuclear protein and functions as a transcriptional regulator. The products of target genes it activates are required for differentitation and mitogenesis. Studies suggest this is a cancer suppressor gene. [provided by RefSeq, Dec 2014]
Expression: Ubiquitous expression in ovary (RPKM 449.0), thyroid (RPKM 344.9) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q31.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	5	NC_000005.10 (138465479..138469303)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (137801168..137804992)

Chromosome 5 - NC_000005.10 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?

EGR1 dysregulation defines an inflammatory and leukemic program in cell trajectory of human-aged hematopoietic stem cells (HSC).
Title: EGR1 dysregulation defines an inflammatory and leukemic program in cell trajectory of human-aged hematopoietic stem cells (HSC).
Early Growth Response Gene Upregulation in Epstein-Barr Virus (EBV)-Associated Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS).
Title: Early Growth Response Gene Upregulation in Epstein-Barr Virus (EBV)-Associated Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS).
WNT11 is a direct target of early growth response protein 1.
Title: WNT11 is a direct target of early growth response protein 1.
CTCF and EGR1 suppress breast cancer cell migration through transcriptional control of Nm23-H1.
Title: CTCF and EGR1 suppress breast cancer cell migration through transcriptional control of Nm23-H1.
Egr-1 mediates low-dose arecoline induced human oral mucosa fibroblast proliferation via transactivation of Wnt5a expression.
Title: Egr-1 mediates low-dose arecoline induced human oral mucosa fibroblast proliferation via transactivation of Wnt5a expression.
A novel regulatory loop miR-101/ANXA2/EGR1 mediates malignant characteristics of liver cancer stem cells.
Title: A novel regulatory loop miR-101/ANXA2/EGR1 mediates malignant characteristics of liver cancer stem cells.
MicroRNA-217 ameliorates inflammatory damage of endothelial cells induced by oxidized LDL by targeting EGR1.
Title: MicroRNA-217 ameliorates inflammatory damage of endothelial cells induced by oxidized LDL by targeting EGR1.
Regulation of pro-opiomelanocortin (POMC) gene transcription by interleukin-31 via early growth response 1 (EGR-1) in HaCaT keratinocytes.
Title: Regulation of pro-opiomelanocortin (POMC) gene transcription by interleukin-31 via early growth response 1 (EGR-1) in HaCaT keratinocytes.
Inhibition of EGR-1-dependent MMP1 transcription by ethanol extract of Ageratum houstonianum in HaCaT keratinocytes.
Title: Inhibition of EGR-1-dependent MMP1 transcription by ethanol extract of Ageratum houstonianum in HaCaT keratinocytes.
Ring finger protein 2 promotes colorectal cancer progression by suppressing early growth response 1.
Title: Ring finger protein 2 promotes colorectal cancer progression by suppressing early growth response 1.

Submit: New GeneRIF Correction See all GeneRIFs (418)

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
Biological insights from 108 schizophrenia-associated genetic loci. GeneReviews: Not available

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
Tat	tat	The gene expression of early growth response 1 is significantly upregulated in both clade B and clade C Tat treated SK-N-MC neuroblastoma cells	PubMed
	tat	HIV-1 Tat-induced upregulation and phosphorylation of STAT3 expression results in increased GFAP, Egr-1, and p300 transcription and protein expression in both Tat-expressing astrocytes, and HIV-infected astrocytes	PubMed
	tat	HIV-1 Tat increases Egr-1 expression in human astrocytoma cells by transactivating the Egr-1 promoter and involving specific serum response elements within the promoter	PubMed
	tat	HIV-1 Tat decreases the levels of Egr-1 and p35 expression in nerve growth factor (NGF)-treated neural cells	PubMed
	tat	HIV-1-Tat-mediated upregulation of platelet-derived growth factor (PDGF) B chain in astrocytes is regulated by activation of ERK1/2 and JNK MAPK signaling pathways and the downstream transcription factor early growth response 1 (Egr1)	PubMed
	tat	HIV-1 Tat upregulates EGR1 expression in Tat-infected Jurkat T cells	PubMed
	tat	HIV-1 Tat-induced upregulation of p300 occurs at the transcriptional level through the cis-acting elements of early growth response 1 (egr-1) within its promoter	PubMed
	tat	HIV-1 Tat binds to Egr-1, an interaction that is mediated through Tat amino acids 30-40	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

D5S2415 (e-PCR)
- UniSTS:34569

PMC98754P1 (e-PCR)
- UniSTS:273678

PMC64850P3 (e-PCR)
- UniSTS:273423

SHGC-11945 (e-PCR)
- UniSTS:48525

WI-12096 (e-PCR)
- UniSTS:81337

EGR1_437 (e-PCR)
- UniSTS:277192

PMC321436P3 (e-PCR)
- UniSTS:273108

Homology

Homologs of the EGR1 gene: The EGR1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 385 organisms have orthologs with human gene EGR1
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	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	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded methylated DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables hemi-methylated DNA-binding	IDA Inferred from Direct Assay more info	PubMed
enables histone acetyltransferase binding	IPI Inferred from Physical Interaction more info	PubMed
enables promoter-specific chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to gamma radiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to heparin	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to interleukin-8	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to mycophenolic acid	ISS Inferred from Sequence or Structural Similarity more info
involved_in circadian regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in circadian temperature homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in estrous cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in glomerular mesangial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in interleukin-1-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in locomotor rhythm	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of canonical Wnt signaling pathway	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 positive regulation of chemokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of glomerular metanephric mesangial cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of hormone biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-1 beta production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron death	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of pri-miRNA transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tau-protein kinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in regulation of progesterone biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein sumoylation	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 regulation of transcription from RNA polymerase II promoter in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to glucose	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: early growth response protein 1

Names: EGR-1; nerve growth factor-induced protein A; transcription factor ETR103; transcription factor Zif268; zinc finger gene 225; zinc finger protein 225; zinc finger protein Krox-24

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_021374.1 RefSeqGene

Range

4988..8812

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001964.3 → NP_001955.1 early growth response protein 1

See identical proteins and their annotated locations for NP_001955.1

Status: REVIEWED

Source sequence(s)

AC113403

Consensus CDS

CCDS4206.1

UniProtKB/Swiss-Prot

P18146

UniProtKB/TrEMBL

Q546S1

Related

ENSP00000239938.4, ENST00000239938.5

Conserved Domains (5) summary

sd00017
Location:340 → 362

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam11914
Location:447 → 530

DUF3432; Domain of unknown function (DUF3432)

pfam00096
Location:338 → 362

zf-C2H2; Zinc finger, C2H2 type

pfam11928
Location:135 → 209

DUF3446; Domain of unknown function (DUF3446)

pfam13465
Location:382 → 407

zf-H2C2_2; Zinc-finger double domain