ECE1 Gene Summary [Human]
The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]
Details
| Type | Protein Coding |
| Official Symbol | ECE1 |
| Official Name | endothelin converting enzyme 1 [Source:HGNC Symbol;Acc:HGNC:3146] |
| Ensembl ID | ENSG00000117298 |
| Bio databases IDs | |
| Aliases | endothelin converting enzyme 1 |
| Synonyms | AW322500, ECE, ECE-1a, ECE-1b, ECE-1c1, ECE-1d, endothelin converting enzyme 1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ECE1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- endopeptidase
- zinc ion binding
- endothelin-converting enzyme
- peptidase
- protein homodimerization
- peptidase GluZincin family
- enzyme
- protein binding
- Peptidase family M13
- identical protein binding
- metalloendopeptidase
Pathways
Biological processes and signaling networks where the ECE1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- osteosarcomagenesis
- breast cancer
- Hirschsprung disease, cardiac defects, and autonomic dysfunction
- persistent truncus arteriosus
- hypoplasia
- essential hypertension
- double outlet right ventricle
- seborrheic keratosis
- overriding aorta
- prostate cancer
role in cell
- expression in
- proliferation
- activation in
- cell viability
- migration
- apoptosis
- synthesis in
- invasion by
- development
- invasion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- soluble fraction
- pH resistant lipid raft fraction
- Cytoplasm
- cell surface
- intracellular space
- perinuclear region
- cellular membrane
- endosomes
- vesicles
- Golgi Apparatus
- cytosol
- plasma membrane extracellular face
- endosomal membrane
- recycling endosomes
- early endosomes
- GLUT4 vesicles
- multivesicular bodies
- secretory granules
- clathrin-coated vesicles
- perinuclear recycling endosome
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ECE1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- axonogenesis involved in innervation
- G-protein coupled receptor signaling pathway
- embryonic heart tube development
- pharyngeal system development
- regulation of systemic arterial blood pressure by endothelin
- embryonic digit morphogenesis
- hormone catabolic process
- heart development
- endothelin maturation
- calcitonin catabolic process
- positive regulation of receptor recycling
- bradykinin catabolic process
- ear development
- substance P catabolic process
- protein processing
- peptide hormone processing
- regulation of vasoconstriction
Cellular Component
Where in the cell the gene product is active
- endosome
- Weibel-Palade body
- perinuclear region of cytoplasm
- extracellular vesicular exosome
- membrane
- external side of plasma membrane
- vesicle
- endosome membrane
- lysosomal membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- zinc ion binding
- protein homodimerization activity
- protein binding
- endopeptidase activity
- peptide hormone binding
- metalloendopeptidase activity