endothelin converting enzyme-like 1
Symbol
ECEL1
(may also be known as: None)
Organism
Human
Description
This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Orthologs
| Symbol | Species | |
|---|---|---|
| uncharacterized_E7FE | Danio rerio | |
| Ecel1 | Mus musculus | |
| Ecel1 | Rattus norvegicus |
Links to external resources
Changes associated with this gene
GO Terms
| GO ID | GO Term | GO Category | |
|---|---|---|---|
| GO:0006508 | proteolysis | biological_process | |
| GO:0007218 | neuropeptide signaling pathway | biological_process | |
| GO:0008152 | metabolic process | biological_process | |
| GO:0035556 | intracellular signal transduction | biological_process | |
| GO:0005887 | integral to plasma membrane | cellular_component | |
| GO:0016020 | membrane | cellular_component | |
| GO:0004222 | metalloendopeptidase activity | molecular_function | |
| GO:0008233 | peptidase activity | molecular_function | |
| GO:0008237 | metallopeptidase activity | molecular_function | |
| GO:0046872 | metal ion binding | molecular_function | |