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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ECE1
endothelin converting enzyme 1
Chromosome 1 · 1p36.12
NCBI Gene: 1889Ensembl: ENSG00000117298.16HGNC: HGNC:3146UniProt: P42892
168PubMed Papers
21Diseases
1Drugs
4Pathogenic Variants
FUNCTIONAL ROLE
Protease
RESEARCH IMPACT
Trending
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
hormone catabolic processendothelin maturationprotein bindingextracellular exosomeHirschsprung diseaseliver diseaseneurodegenerative diseaseAlzheimer disease
✦AI Summary

ECE1 (endothelin converting enzyme 1) is a zinc-dependent endopeptidase that catalyzes the conversion of inactive big endothelin-1 to the active 21-amino acid peptide endothelin-1 1. This enzyme exists in four isoforms (ECE-1a-d) derived from alternative promoters of a single gene 1. ECE1 is localized to multiple cellular compartments including the external plasma membrane, endosomes, lysosomes, and Weibel-Palade bodies—specialized secretory granules in vascular endothelial cells 1. Endothelin-1 is one of the most potent vasoconstrictors known and is released constitutively to maintain vascular tone and in response to external stimuli 1. ECE1 dysfunction is clinically significant in multiple contexts. Deletions encompassing ECE1 on chromosome 1 contribute to 1p36 deletion syndrome, characterized by developmental delay, intellectual disability, congenital heart defects, cardiomyopathy, and other anomalies 2. ECE1 gene polymorphisms show gender-specific associations with essential hypertension susceptibility in Han Chinese populations, with certain variants influencing blood pressure regulation 3. Additionally, ECE1 encodes the extent of cell elongation 1 protein, which produces candidalysin—a fungal toxin that exacerbates alcohol-associated liver disease and directly damages hepatocytes 4. These findings establish ECE1 as a multifunctional gene affecting endocrine signaling, cardiovascular development, blood pressure homeostasis, and host-pathogen interactions.

Sources cited
1
ECE1 converts big endothelin-1 to endothelin-1 via hydrolysis of the Trp21-Val22 bond; exists as four isoforms; localized to plasma membrane, endosomes, and Weibel-Palade bodies; ET-1 is a potent vasoconstrictor
PMID: 16999223
2
ECE1 deletions in 1p36 deletion syndrome contribute to congenital heart defects, cardiomyopathy, and developmental abnormalities
PMID: 26345236
3
ECE1 gene polymorphisms show gender-specific associations with essential hypertension risk in Northern Han Chinese populations
PMID: 32107880
4
ECE1 encodes extent of cell elongation 1 protein that produces candidalysin toxin; candidalysin exacerbates ethanol-induced liver disease and damages primary hepatocytes
PMID: 31606552
5
ECE1 polymorphisms influence blood pressure regulation in patients with intracerebral hemorrhage
PMID: 27036146
6
ECE1 mutations identified as disease-causing variants in rare genetic diseases presenting in pediatric intensive care
PMID: 34298581
Disease Associationsⓘ21
Hirschsprung diseaseOpen Targets
0.59Moderate
liver diseaseOpen Targets
0.38Weak
neurodegenerative diseaseOpen Targets
0.36Weak
Alzheimer diseaseOpen Targets
0.33Weak
lysosomal storage diseaseOpen Targets
0.33Weak
multiple sclerosisOpen Targets
0.33Weak
Parkinson diseaseOpen Targets
0.33Weak
Aganglionic megacolonOpen Targets
0.32Weak
stomach diseaseOpen Targets
0.31Weak
dementiaOpen Targets
0.30Weak
AnxietyOpen Targets
0.28Weak
mathematical abilityOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.24Weak
atrial fibrillationOpen Targets
0.21Weak
hypertensionOpen Targets
0.20Weak
essential hypertension, geneticOpen Targets
0.12Weak
Aortic CoarctationOpen Targets
0.08Suggestive
congenital heart diseaseOpen Targets
0.07Suggestive
cholesteatomaOpen Targets
0.07Suggestive
HeterotaxiaOpen Targets
0.07Suggestive
Hirschsprung disease, cardiac defects, and autonomic dysfunctionUniProt
Pathogenic Variants4
NM_001397.3(ECE1):c.1966G>A (p.Gly656Arg)Likely pathogenic
Hirschsprung disease, cardiac defects, and autonomic dysfunction
★☆☆☆2021→ Residue 656
NM_001397.3(ECE1):c.2260C>T (p.Arg754Cys)Pathogenic
Hirschsprung disease, cardiac defects, and autonomic dysfunction
☆☆☆☆1999→ Residue 754
NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp)Likely pathogenic
Aganglionic megacolon
☆☆☆☆→ Residue 627
NM_001397.3(ECE1):c.1067T>G (p.Phe356Cys)Likely pathogenic
Aganglionic megacolon
☆☆☆☆→ Residue 356
View on ClinVar ↗
Drug Targets1
DAGLUTRILPhase II
Endothelin-converting enzyme 1 inhibitor
Related Genes
EDN2Protein interaction100%EDN3Protein interaction100%APPProtein interaction100%EDNRBProtein interaction99%IDEProtein interaction83%EDN1Protein interaction65%
Tissue Expression6 tissues
Lung
100%
Ovary
91%
Liver
62%
Heart
56%
Brain
40%
Bone Marrow
33%
Gene Interaction Network
Click a node to explore
ECE1EDN2EDN3APPEDNRBIDEEDN1
PROTEIN STRUCTURE
Preparing viewer…
PDB3DWB · 2.38 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.48Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.36 [0.28–0.48]
RankingsWhere ECE1 stands among ~20K protein-coding genes
  • #2,647of 20,598
    Most Researched168 · top quartile
  • #3,708of 5,498
    Most Pathogenic Variants4
  • #2,824of 17,882
    Most Constrained (LOEUF)0.48 · top quartile
Genes detectedECE1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
1p36 deletion syndrome: an update.
PMID: 26345236
Appl Clin Genet · 2015
1.00
2
Candidalysin is a fungal peptide toxin critical for mucosal infection.
PMID: 27027296
Nature · 2016
0.90
3
The Candida albicans exotoxin candidalysin promotes alcohol-associated liver disease.
PMID: 31606552
J Hepatol · 2020
0.80
4
The role of Candida albicans candidalysin ECE1 gene in oral carcinogenesis.
PMID: 32170981
J Oral Pathol Med · 2020
0.72
5
Endothelin.
PMID: 16999223
Handb Exp Pharmacol · 2006
0.70