Gene
ece1
- ID
- ZDB-GENE-061110-100
- Name
- endothelin converting enzyme 1
- Symbol
- ece1 Nomenclature History
- Previous Names
-
- fd11b07
- wu:fd11b07
- zgc:154079
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to have metalloendopeptidase activity. Involved in embryonic viscerocranium morphogenesis. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Alzheimer's disease; coronary artery disease; essential hypertension; and hypertension. Is expressed in cardiovascular system; fin bud; hindbrain; pharyngeal arch; and somite. Orthologous to human ECE1 (endothelin converting enzyme 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Iklé et al., 2017
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| essential hypertension | Alliance | {Hypertension, essential, susceptibility to} | 145500 |
| ?Hirschsprung disease, cardiac defects, and autonomic dysfunction | 613870 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Metallopeptidase, catalytic domain superfamily | Peptidase M13 | Peptidase M13, C-terminal domain | Peptidase M13, domain 2 | Peptidase M13, N-terminal domain |
|---|---|---|---|---|---|---|
|
UniProtKB:A0JMP1
|
752 |
Interactions and Pathways
No data available
Plasmids
No data available