EDN1 (Endothelin 1) Gene
Key regulator of vasoconstriction, cardiovascular function, and disease pathogenesis
Gene Information Card
| Symbol | EDN1 |
|---|---|
| Full Name | Endothelin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p24.1 |
| NCBI Gene ID | 1906 ncbi.nlm.nih.gov/gene/1906 |
| Ensembl ID | ENSG00000078401 |
| UniProt ID | P05305 |
| OMIM ID | 131240 |
| HGNC ID | 3176 |
| Aliases | ET1, PPET1, preproendothelin-1 |
Description
The EDN1 gene encodes endothelin 1, a potent vasoconstrictor peptide produced primarily by vascular endothelial cells. It is synthesized as a precursor (preproendothelin) that is cleaved to form the active 21-amino acid peptide. Endothelin 1 acts via two G-protein-coupled receptors (ETA and ETB) to regulate vascular tone, blood pressure, and cell proliferation. Dysregulation of EDN1 is implicated in hypertension, pulmonary arterial hypertension, heart failure, and various vascular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Increased EDN1 expression leads to sustained vasoconstriction and elevated blood pressure | NCBI Gene, OMIM |
| Pulmonary Arterial Hypertension (PAH) | Overexpression of EDN1 contributes to pulmonary vasoconstriction and vascular remodeling | OMIM, ClinVar |
| Heart Failure | Elevated circulating endothelin 1 levels correlate with disease severity and poor prognosis | NCBI Gene |
| Atherosclerosis | EDN1 promotes smooth muscle cell proliferation and endothelial dysfunction | UniProt |
| Migraine | Variant in EDN1 may alter vascular reactivity and susceptibility | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.3 | High |
| Heart | 8.7 | Medium |
| Kidney | 6.5 | Medium |
| Liver | 2.1 | Low |
| Brain | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (endothelial) | 45.2 | High expression |
| A549 (lung) | 3.4 | Moderate |
| HEK293 (kidney) | 1.2 | Low |
| HeLa (cervical) | 0.8 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs5370 (Lys198Asn) | Missense | Common (allele frequency ~0.25) | Increased risk of hypertension and PAH |
| rs1800541 | Intronic | Common | Associated with altered EDN1 expression |
| rs2070699 | 3' UTR | Rare | Potential effect on mRNA stability |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported; EDN1 is essential for vascular development.
Gain of Function (GOF)
rs5370 (Lys198Asn) is associated with increased endothelin 1 activity and elevated blood pressure.
Dominant Negative (DN)
Not described for EDN1.
View complete mutation data：
Gene Ontology (GO)
| • vasoconstriction | • endothelial cell migration |
| • positive regulation of smooth muscle cell proliferation | • G protein-coupled receptor signaling pathway |
| • blood vessel development |
Pathways
• Endothelin signaling pathway
• Vascular smooth muscle contraction
• Calcium signaling pathway
• RAS signaling
Protein Summary
Endothelin 1 (ET1) is a 21-amino acid peptide derived from a 212-residue precursor (preproendothelin). It is the most potent endogenous vasoconstrictor known. ET1 binds to ETA and ETB receptors, triggering intracellular calcium release and smooth muscle contraction. It also acts as a mitogen for vascular smooth muscle cells and fibroblasts. The protein is stored in endothelial cells and released in response to hypoxia, shear stress, and various cytokines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDN1 Knockout HEK293 Cell Line | EDJ-KQ1485 | Human | 1906 | Details Get a Quote |
| EDN1 Knockout A-549 Cell Line | EDJ-KQ21075 | Human | 1906 | Details Get a Quote |
| EDN1 Knockout HCT 116 Cell Line | EDJ-KQ21076 | Human | 1906 | Details Get a Quote |
| EDN1 Knockout HeLa Cell Line | EDJ-KQ21077 | Human | 1906 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
