EGR1: Early Growth Response 1 – Master Regulator of Cell Growth and Differentiation
A comprehensive biomedical resource on EGR1 gene, including genomic annotation, expression, mutations, and disease associations.
Gene Information Card
| Symbol | EGR1 |
|---|---|
| Full Name | Early Growth Response 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 1958 ncbi.nlm.nih.gov/gene/1958 |
| Ensembl ID | ENSG00000120738 |
| UniProt ID | P18146 |
| OMIM ID | 128990 |
| HGNC ID | 3238 |
| Aliases | NGFI-A, Krox-24, Zif268, TIS8, ZNF225 |
Description
EGR1 (Early Growth Response 1) encodes a C2H2-type zinc-finger transcription factor that regulates genes involved in cell proliferation, differentiation, and survival. It is rapidly induced by various stimuli including growth factors, cytokines, and stress signals. EGR1 plays critical roles in neuronal plasticity, immune response, and tumor suppression or promotion depending on cellular context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | EGR1 overexpression promotes tumor growth and androgen receptor signaling | PMID: 10652318, COSMIC |
| Glioblastoma | EGR1 regulates PTEN and p53 pathways; altered expression correlates with poor prognosis | PMID: 21502544, ClinVar |
| Acute Myeloid Leukemia | EGR1 acts as a tumor suppressor; loss contributes to leukemogenesis | PMID: 20053793, COSMIC |
| Coronary Artery Disease | EGR1 mediates vascular smooth muscle cell proliferation and inflammation | PMID: 16968947, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Prostate | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High baseline expression |
| HeLa | 11.8 | Inducible by serum |
| K562 | 9.4 | Moderate expression |
| MCF7 | 7.1 | Low expression, inducible by EGF |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1018C>T (p.Arg340Trp) | Missense | <0.1% | Altered DNA-binding affinity |
| c.1246G>A (p.Gly416Arg) | Missense | <0.1% | Reduced transcriptional activity |
| c.1327_1328insC (p.Gln443ProfsTer12) | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the zinc-finger domain, reducing or abolishing DNA binding and transcriptional activation.
Gain of Function (GOF)
Missense mutations in the activation domain may enhance transcriptional activity, though rare and not well characterized.
Dominant Negative (DN)
Mutations that retain dimerization but lack DNA binding can interfere with wild-type EGR1 function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0000978 – RNA polymerase II cis-regulatory region sequence-specific DNA binding | • GO:0001227 – DNA-binding transcription repressor activity |
| • RNA polymerase II-specific | • GO:0001228 – DNA-binding transcription activator activity |
| • RNA polymerase II-specific | • GO:0005515 – protein binding |
| • GO:0005634 – nucleus | • GO:0006357 – regulation of transcription by RNA polymerase II |
| • GO:0045944 – positive regulation of transcription by RNA polymerase II |
Pathways
• MAPK/ERK signaling pathway (Reactome: R-HSA-110056)
• p53 signaling pathway (KEGG: hsa04115)
• TNF signaling pathway (KEGG: hsa04668)
• Neurotrophin signaling pathway (KEGG: hsa04722)
Protein Summary
EGR1 is a 533-amino acid nuclear phosphoprotein containing three C2H2-type zinc fingers that bind to GC-rich consensus sequences (e.g., 5'-GCGGGGGCG-3'). It functions as a transcription factor that rapidly responds to extracellular signals via the MAPK cascade. EGR1 regulates target genes involved in cell cycle, apoptosis, angiogenesis, and inflammation. Its expression is tightly controlled and dysregulated in multiple cancers and neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EGR1 Knockout HEK293 Cell Line | EDJ-KQ1441 | Human | 1958 | Details Get a Quote |
| NEGR1 Knockout HEK293 Cell Line | EDJ-KQ11862 | Human | 257194 | Details Get a Quote |
| EGR1 Knockout HCT 116 Cell Line | EDJ-KQ20985 | Human | 1958 | Details Get a Quote |
| EGR1 Knockout HeLa Cell Line | EDJ-KQ20986 | Human | 1958 | Details Get a Quote |
| NEGR1 Knockout HeLa Cell Line | EDJ-KQ40290 | Human | 257194 | Details Get a Quote |
| EGR1 Knockout THP-1 Cell Line | EDC10121 | Human | 1958 | Details Get a Quote |
| EGR1 Knockout A-549 Cell Line | EDC07770 | Human | 1958 | Details Get a Quote |
| NEGR1 Knockout A-549 Cell Line | EDJ-KQ67787 | Human | 257194 | Details Get a Quote |
| NEGR1 Knockout HCT 116 Cell Line | EDJ-KQ76170 | Human | 257194 | Details Get a Quote |
| NEGR1 Overexpression HEK293 Stable Cell Line | EDC01663 | Human | 257194 | Details Get a Quote |
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