EDN1 Gene

HGNC Family	Endogenous ligands
Name	endothelin 1
Description	This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Endothelin‐1 (EDN1) is a potent endothelium‐derived peptide that plays diverse and critical roles in vascular homeostasis and pathology. EDN1 can be released in response to metabolic cues – for example, adipocyte‐derived factors such as resistin stimulate EDN1 production in endothelial cells, thereby promoting endothelial activation and contributing to cardiovascular risk in the metabolic syndrome (see."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In addition, EDN1 influences tissue remodeling; in lung fibroblasts, it induces a contractile phenotype by upregulating proteins such as α‐smooth muscle actin and other cytoskeletal components via activation of the ET<sub>A</sub> receptor and the phosphoinositide 3-kinase/Akt pathway, thus enhancing extracellular matrix contraction important in normal repair as well as in fibrosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In the kidney, EDN1 produced by the collecting duct is a key regulator of sodium excretion and systemic blood pressure; loss of collecting duct–derived EDN1 results in salt-sensitive hypertension, highlighting its physiological role in controlling renal sodium handling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, genetic studies have identified noncoding variants that modulate EDN1 expression distally in endothelial cells, thereby altering the risk for a spectrum of vascular diseases including coronary artery disease, migraine, fibromuscular dysplasia, and hypertension."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Under hypoxic conditions, EDN1 is up-regulated in a HIF-2α–dependent manner; this increase contributes to pulmonary vascular remodeling and the pathogenesis of pulmonary hypertension by enhancing vasoconstrictive signals."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " In the cancer setting, tumor-derived EDN1 has been shown to stimulate osteoblastic activity in bone metastases – notably in breast cancer – by acting via the ET<sub>A</sub> receptor, thereby promoting new bone formation and metastatic progression."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings illustrate that EDN1 functions as a multifaceted mediator: it regulates vascular tone and blood pressure, modulates extracellular matrix remodeling and fibrosis, influences renal sodium balance, and even contributes to the metastatic niche in cancers. This broad spectrum of action underscores EDN1’s potential as an important therapeutic target in diverse disease states.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Subodh Verma, Shu-Hong Li, Chao-Hung Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Resistin promotes endothelial cell activation: further evidence of adipokine-endothelial interaction."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circulation (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/01.CIR.0000084503.91330.49"}], "href": "https://doi.org/10.1161/01.CIR.0000084503.91330.49"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12874180"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12874180"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Xu Shi-Wen, Yunliang Chen, Christopher P Denton, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Endothelin-1 promotes myofibroblast induction through the ETA receptor via a rac/phosphoinositide 3-kinase/Akt-dependent pathway and is essential for the enhanced contractile phenotype of fibrotic fibroblasts."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Cell (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1091/mbc.e03-12-0902"}], "href": "https://doi.org/10.1091/mbc.e03-12-0902"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15047866"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15047866"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Dowhan Ahn, Yuqiang Ge, Peter K Stricklett, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Collecting duct-specific knockout of endothelin-1 causes hypertension and sodium retention."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI21064"}], "href": "https://doi.org/10.1172/JCI21064"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15314687"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15314687"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Rajat M Gupta, Joseph Hadaya, Aditi Trehan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A Genetic Variant Associated with Five Vascular Diseases Is a Distal Regulator of Endothelin-1 Gene Expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2017.06.049"}], "href": "https://doi.org/10.1016/j.cell.2017.06.049"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28753427"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28753427"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Koen Brusselmans, Veerle Compernolle, Marc Tjwa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Heterozygous deficiency of hypoxia-inducible factor-2alpha protects mice against pulmonary hypertension and right ventricular dysfunction during prolonged hypoxia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI15496"}], "href": "https://doi.org/10.1172/JCI15496"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12750401"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12750401"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Juan Juan Yin, Khalid S Mohammad, Sanna M Käkönen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A causal role for endothelin-1 in the pathogenesis of osteoblastic bone metastases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.1830978100"}], "href": "https://doi.org/10.1073/pnas.1830978100"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12941866"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12941866"}]}]}]}
Synonyms	ET1, QME, HDLCQ7, ARCND3, PPET1
Proteins	EDN1_HUMAN
NCBI Gene ID	1906
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

EDN1 has 16,707 functional associations with biological entities spanning 8 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 119 datasets.

Click the + buttons to view associations for EDN1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

EDN1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by EDN1 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of EDN1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of EDN1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of EDN1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of EDN1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of EDN1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving EDN1 protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of EDN1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of EDN1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of EDN1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of EDN1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of EDN1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with EDN1 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with EDN1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of EDN1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of EDN1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of EDN1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with EDN1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of EDN1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing EDN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing EDN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing EDN1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing EDN1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with EDN1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with EDN1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of EDN1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with EDN1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with EDN1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with EDN1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by EDN1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with EDN1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with EDN1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with EDN1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with EDN1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for EDN1 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at EDN1 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of EDN1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of EDN1 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing EDN1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with EDN1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.