Ecel1 Gene Summary [Mouse]
Enables metalloendopeptidase activity. Involved in respiratory system process. Predicted to be active in plasma membrane. Is expressed in cap mesenchyme; central nervous system; and retina. Used to study distal arthrogryposis. Human ortholog(s) of this gene implicated in distal arthrogryposis type 5D. Orthologous to human ECEL1 (endothelin converting enzyme like 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ecel1 |
| Official Name | endothelin converting enzyme-like 1 [Source:MGI Symbol;Acc:MGI:1343461] |
| Ensembl ID | ENSMUSG00000026247 |
| Bio databases IDs | |
| Aliases | endothelin converting enzyme-like 1 |
| Synonyms | DA5D, DINE, ECEX, endothelin converting enzyme-like 1, XCE |
| 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 Ecel1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- metallopeptidase
- peptidase
- peptidase GluZincin family
- Peptidase family M13
- metalloendopeptidase
Pathways
Biological processes and signaling networks where the Ecel1 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
- distal arthrogryposis type 5D
- hereditary disorder
- respiratory failure
- cyanosis
- pruritus
- anoxia
- atelectasis
- experimentally-induced diabetes
role in cell
- apoptosis
- quantity
- abnormal morphology
- signal transduction in
- arborization
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
- membrane fraction
- cellular membrane
- axons
- axon terminals
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Ecel1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- respiratory system process
- neuropeptide signaling pathway
- protein processing
Cellular Component
Where in the cell the gene product is active
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- metal ion binding
- metalloendopeptidase activity
- metallopeptidase activity