ECEL1

From Wikipedia, the free encyclopedia
Jump to navigation Jump to search
ECEL1
Identifiers
AliasesECEL1, DA5D, DINE, ECEX, XCE, endothelin converting enzyme-like 1, endothelin converting enzyme like 1
External IDsOMIM: 605896 MGI: 1343461 HomoloGene: 3549 GeneCards: ECEL1
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for ECEL1
Genomic location for ECEL1
Band2q37.1Start232,479,827 bp[1]
End232,487,834 bp[1]
RNA expression pattern
PBB GE ECEL1 219914 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 1: 87.15 – 87.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000171551 - Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: ECEL1 endothelin converting enzyme-like 1".

Further reading[edit]