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

SymbolSpecies
uncharacterized_E7FE Danio rerio
Ecel1 Mus musculus
Ecel1 Rattus norvegicus

Links to external resources

Changes associated with this gene

GO Terms

GO IDGO TermGO 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