ECEL1

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
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 anterior pituitary hypothalamus putamen Left adrenal gland caudate nucleus islet of Langerhans left uterine tube nucleus accumbens gastric mucosa smooth muscle tissue Top expressed in facial motor nucleus arcuate nucleus superior cervical ganglion superior frontal gyrus neural tube anterior horn of spinal cord median eminence nucleus accumbens amygdala lateral hypothalamus 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

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

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]

References

1. GRCh38: Ensembl release 89: ENSG00000171551 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026247 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Valdenaire O, Richards JG, Faull RL, Schweizer A (Mar 1999). "XCE, a new member of the endothelin-converting enzyme and neutral endopeptidase family, is preferentially expressed in the CNS". Brain Res Mol Brain Res. 64 (2): 211–21. doi:10.1016/S0169-328X(98)00321-0. PMID   9931490.
6. Rump A, Kasper G, Hayes C, Wen G, Starke H, Liehr T, Lehmann R, Lagemann D, Rosenthal A (May 2001). "Complex arrangement of genes within a 220-kb region of double-duplicated DNA on human 2q37.1". Genomics. 73 (1): 50–5. doi:10.1006/geno.2000.6504. PMID   11352565.
7. "Entrez Gene: ECEL1 endothelin converting enzyme-like 1".

Further reading

• Valdenaire O, Rohrbacher E, Langeveld A, et al. (2000). "Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration". Biochem. J. 346 Pt 3 (3): 611–6. doi:10.1042/0264-6021:3460611. PMC   1220892 . PMID   10698686.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Kawamoto T, Ohira M, Hamano S, et al. (2003). "High expression of the novel endothelin-converting enzyme genes, Nbla03145/ECEL1alpha and beta, is associated with favorable prognosis in human neuroblastomas". Int. J. Oncol. 22 (4): 815–22. doi:10.3892/ijo.22.4.815. PMID   12632073.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC   403697 . PMID   12975309.
• Benoit A, Vargas MA, Desgroseillers L, Boileau G (2004). "Endothelin-converting enzyme-like 1 (ECEL1) is present both in the plasma membrane and in the endoplasmic reticulum". Biochem. J. 380 (Pt 3): 881–8. doi:10.1042/BJ20040215. PMC   1224203 . PMID   14992683.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi: 10.1038/nature03466 . PMID   15815621.