ECE1 Gene: Endothelin Converting Enzyme 1
Key regulator of endothelin signaling and vascular homeostasis
Gene Information Card
| Symbol | ECE1 |
|---|---|
| Full Name | Endothelin Converting Enzyme 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.12 |
| NCBI Gene ID | 1889 ncbi.nlm.nih.gov/gene/1889 |
| Ensembl ID | ENSG00000134138 |
| UniProt ID | P42892 |
| OMIM ID | 600423 |
| HGNC ID | 3154 |
| Aliases | ECE, ECE-1 |
Description
The ECE1 gene encodes endothelin converting enzyme 1, a type II integral membrane zinc metalloprotease that cleaves big endothelin-1 to generate the potent vasoconstrictor endothelin-1. ECE1 is essential for endothelin signaling and plays critical roles in vascular tone regulation, neural crest development, and cardiovascular homeostasis. Alternative splicing produces multiple isoforms with distinct subcellular localizations.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hirschsprung disease | Loss-of-function mutations impair endothelin-3 processing, disrupting enteric neural crest cell migration | ClinVar, OMIM |
| Cardiovascular disease | Dysregulated ECE1 activity alters endothelin-1 levels, contributing to hypertension and atherosclerosis | NCBI Gene, OMIM |
| Pulmonary arterial hypertension | Increased ECE1 expression leads to elevated endothelin-1, promoting vasoconstriction and vascular remodeling | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Kidney | 7.1 | Medium |
| Brain | 5.6 | Low |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC | 15.0 | Endothelial cells, high expression |
| A549 | 9.8 | Lung adenocarcinoma cells |
| HEK293 | 6.4 | Embryonic kidney cells |
| HeLa | 4.1 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | Rare | Loss of function, associated with Hirschsprung disease |
| c.1246G>A (p.Gly416Ser) | Missense | Rare | Reduced enzymatic activity, linked to cardiovascular phenotypes |
| c.1685A>G (p.Asn562Ser) | Missense | Rare | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the zinc-binding motif reduce or abolish endothelin converting activity.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported in ECE1.
Dominant Negative (DN)
Some missense mutations may interfere with dimerization or substrate binding, potentially exerting dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • endothelin converting enzyme activity |
| • proteolysis | • endothelin maturation |
| • vasoconstriction | • neural crest cell migration |
Pathways
• Endothelin signaling pathway
• Renin-angiotensin system
• Neural crest cell development
Protein Summary
ECE1 is a 770-amino acid zinc metalloprotease with a short N-terminal cytoplasmic domain, a single transmembrane domain, and a large extracellular catalytic domain. It specifically cleaves big endothelin-1 at Trp21-Val22 to produce the active 21-amino acid endothelin-1. The enzyme is expressed in endothelial cells, smooth muscle cells, and various tissues, and its activity is critical for vascular function and development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ECE1 Knockout HEK293 Cell Line | EDJ-KQ4497 | Human | 1889 | Details Get a Quote |
| ECE1 Knockout A-549 Cell Line | EDJ-KQ27080 | Human | 1889 | Details Get a Quote |
| ECE1 Knockout HCT 116 Cell Line | EDJ-KQ27081 | Human | 1889 | Details Get a Quote |
| ECE1 Knockout HeLa Cell Line | EDJ-KQ27082 | Human | 1889 | Details Get a Quote |
