GeneID: 111



Names

Common Name: ECE1 Type: Gene
Chromosome: 1 (NC_000001.11) Locus: NG_013008.1 (ECE1)
HUGO Symbol: ECE1 Full Name: endothelin converting enzyme 1
Exons: 19 Introns: 18

Description:
This gene encodes the endothelin-converting enzyme-1 (ECE-1) that is involved in the proteolytic processing of endothelin precursors to generate the biologically active endothelin-1, a potent vasoconstrictor peptide. The encoded protein is membrane-bound and expressed predominantly in endothelial cells. It exists as three isoforms with variable N-terminal regions, derived from the use of alternate promoters in the ECE-1 gene. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Polymorphisms in this gene associated with avascular necrosis and stroke in sickle cell patients. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Synonyms: ECE

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Valdenaire O, Rohrbacher E, Mattei MG, Organization of the gene encoding the human endothelin-converting enzyme (ECE-1)., J. Biol. Chem. , 270(50), 29794-8, 1995 PubMed
  2. Schweizer A, Valdenaire O, Nelböck P, Deuschle U, Dumas Milne Edwards JB, Stumpf JG, Löffler BM, Human endothelin-converting enzyme (ECE-1): three isoforms with distinct subcellular localizations., Biochem. J. , 328(0), 871-7, 1997 PubMed
  3. Valdenaire O, Lepailleur-Enouf D, Egidy G, Thouard A, Barret A, Vranckx R, Tougard C, Michel JB, A fourth isoform of endothelin-converting enzyme (ECE-1) is generated from an additional promoter molecular cloning and characterization., Eur. J. Biochem. , 264(2), 341-9, 1999 PubMed
  4. Baldwin C, Nolan VG, Wyszynski DF, Ma QL, Sebastiani P, Embury SH, Bisbee A, Farrell J, Farrer L, Steinberg MH, Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis., Blood , 106(1), 372-5, 2005 PubMed
  5. Sebastiani P, Ramoni MF, Nolan V, Baldwin CT, Steinberg MH, Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia., Nat. Genet. , 37(4), 435-40, 2005 PubMed
  6. Flanagan JM, Frohlich DM, Howard TA, Schultz WH, Driscoll C, Nagasubramanian R, Mortier NA, Kimble AC, Aygun B, Adams RJ, Helms RW, Ware RE, Genetic predictors for stroke in children with sickle cell anemia., Blood , 117(24), 6681-4, 2011 PubMed
Created on 2016-04-27 12:40:50, Last reviewed on (Show full history)


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