Ece1 Gene Summary [Mouse]
Predicted to enable metalloendopeptidase activity; protein homodimerization activity; and zinc ion binding activity. Involved in axonogenesis; embryonic heart tube development; and gene expression. Acts upstream of or within pharyngeal system development. Predicted to be located in several cellular components, including cytoplasmic vesicle; external side of plasma membrane; and perinuclear region of cytoplasm. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and retina. Used to study double outlet right ventricle. Human ortholog(s) of this gene implicated in Alzheimer's disease; congestive heart failure; coronary artery disease; essential hypertension; and hypertension. Orthologous to human ECE1 (endothelin converting enzyme 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ece1 |
| Official Name | endothelin converting enzyme 1 [Source:MGI Symbol;Acc:MGI:1101357] |
| Ensembl ID | ENSMUSG00000057530 |
| Bio databases IDs | |
| Aliases | endothelin converting enzyme 1 |
| Synonyms | AW322500, ECE, ECE-1a, ECE-1b, ECE-1c1, ECE-1d, endothelin converting enzyme 1 |
| Species | Mouse, Mus musculus |
| 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 mouse 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 mouse 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
phenotypes
- aberrant origin of the right subclavian artery
- abnormal Harderian gland pigmentation
- abnormal artery morphology
- abnormal ascending aorta morphology
- abnormal choroid melanocyte morphology
- abnormal epidermal melanocyte morphology
- abnormal fourth pharyngeal arch artery morphology
- abnormal heart and great artery attachment
- abnormal sixth pharyngeal arch artery morphology
- abnormal skeleton morphology
- abnormal styloid process morphology
- abnormal submandibular duct morphology
- abnormal temporal bone squamous part morphology
- abnormal third pharyngeal arch artery morphology
- abnormal vasodilation
- absent Meckel's cartilage
- absent enteric neurons
- absent external auditory canal
- absent incus
- absent malleus
- absent middle ear ossicles
- absent right subclavian artery
- absent stapes
- absent sublingual duct
- absent tongue
- absent tympanic ring
- alisphenoid bone hypoplasia
- atrioventricular cushion hypoplasia
- double aortic arch
- double outlet right ventricle
- embryonic lethality during organogenesis incomplete penetrance
- enlarged heart
- hydrops fetalis
- interrupted aortic arch
- neonatal lethality complete penetrance
- overriding aortic valve
- palatine bone hypoplasia
- parathyroid hypoplasia
- pericardial effusion
- perimembraneous ventricular septal defect
- persistent cervical thymus
- persistent ductus caroticus
- persistent right 6th pharyngeal arch artery
- persistent right dorsal aorta
- persistent truncus arteriosis
- small mandible
- temporal bone squamous part hypoplasia
- thyroid gland hypoplasia
- ventricular septal defect
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 mouse 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