ECEL1

Also known as DA5D, DINE, ECEX, XCE, endothelin converting enzyme-like 1, endothelin converting enzyme like 1

Endothelin-converting enzyme-like 1 is a protein that in humans is encoded by the ECEL1 gene.

Gene data

ECEL1

Name: endothelin converting enzyme like 1
Type: protein-coding
Position: 232,479,825–232,489,045 (−)
Aliases: DA5D, DINE, ECEX, XCE
Ensembl: ENSG00000171551
RefSeq RNA: NM_001290787.2, NM_004826.4
RefSeq protein: NP_001277716.1, NP_004817.2

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].

Gene Ontology

Biological process

respiratory system process respiratory system process

Article

2 sections

Contents

References
Further reading

Endothelin-converting enzyme-like 1 is a protein that in humans is encoded by the ECEL1 gene.

This gene encodes a member of the neutral endopeptidase (NEP)-related family. It is expressed specifically in the nervous system. The gene disruption in mouse embryonic stem cells results in neonatal lethality due to respiratory failure shortly after birth. Based on the specific expression of this gene and the phenotype of the gene deficiency in mouse embryos, it is suggested that the protein encoded by this gene play a critical role in the nervous regulation of the respiratory system.