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 enable metalloendopeptidase activity. Acts upstream of or within embryonic viscerocranium morphogenesis. Predicted to be located in membrane. Predicted to be active in plasma membrane. Is expressed in cardiovascular system; fin bud; hindbrain; pharyngeal arch; and somite. 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).
- 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 | Additional Resources | Length | Metallopeptidase, catalytic domain superfamily | Peptidase M13 | Peptidase M13, C-terminal domain | Peptidase M13, domain 2 | Peptidase M13, N-terminal domain |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0JMP1 | InterPro | 752 | |||||
| UniProtKB:A0A8M1NC81 | InterPro | 766 | |||||
| UniProtKB:A0AB32U2G2 | InterPro | 753 |
Interactions and Pathways
No data available
Plasmids
No data available