ECEL1

Endothelin-converting enzyme-like 1 is a protein that in humans is encoded by the ECEL1 gene.^[5][6][7]

ECEL1
Identifiers
Aliases	ECEL1, DA5D, DINE, ECEX, XCE, endothelin converting enzyme-like 1, endothelin converting enzyme like 1
External IDs	OMIM: 605896; MGI: 1343461; HomoloGene: 3549; GeneCards: ECEL1; OMA:ECEL1 - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q37.1 Start 232,479,827 bp[1] End 232,487,834 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 C5 Start 87,075,377 bp[2] End 87,084,243 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left ovary right ovary anterior pituitary hypothalamus testicle right adrenal cortex putamen left adrenal gland left adrenal cortex caudate nucleus Top expressed in facial motor nucleus lumbar subsegment of spinal cord nucleus of stria terminalis arcuate nucleus superior cervical ganglion superior frontal gyrus neural tube anterior horn of spinal cord median eminence nucleus accumbens More reference expression data BioGPS More reference expression data
Gene ontology Molecular function peptidase activity metalloendopeptidase activity hydrolase activity metallopeptidase activity metal ion binding Cellular component integral component of membrane integral component of plasma membrane membrane Biological process respiratory system process neuropeptide signaling pathway proteolysis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9427 13599 Ensembl ENSG00000171551 ENSMUSG00000026247 UniProt O95672 Q9JMI0 RefSeq (mRNA) NM_004826 NM_001290787 NM_001277925 NM_021306 RefSeq (protein) NP_001277716 NP_004817 NP_001264854 NP_067281 Location (UCSC) Chr 2: 232.48 – 232.49 Mb Chr 1: 87.08 – 87.08 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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.^[7]