GeneID: 110



Names

Common Name: EDN1 Type: Gene
Chromosome: 6 (NC_000006.12) Locus: NG_016196.1 (EDN1)
HUGO Symbol: EDN1 Full Name: endothelin 1
Exons: 5 Introns: 4

Description:
This gene encodes a 212-amino acid preprotein that is proteolytically processed to produce the mature bioactive 21-amino acid endothelin-1 (ET-1) peptide. ET-1 is a potent vasoconstrictor produced by vascular endothelial cells. It is stored in both constitutive secretory vesicles and endothelial-specific storage granules called Weibel-Palade bodies, and is secreted in response to various stimuli such as thrombin, hypoxia and shear stress. ET-1 activates the G protein-coupled ETA and ETB receptors, which in turn stimulate downstream signalling cascades that mediate diverse cellular processes. Changes in the canonical ET-1 signalling pathway have been implicated in several pathophysiological conditions, including congenital heart failure, pulmonary hypertension, mitogenesis and cancer, inflammatory and neuropathic pain syndromes, and fibrotic disorders. Polymorphisms in this gene associated with acute chest syndrome in sickle cell patients. Alternative splicing results in multiple transcript variants.

Synonyms: ET1

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Chaar V, Tarer V, Etienne-Julan M, Diara JP, Elion J, Romana M, ET-1 and ecNOS gene polymorphisms andsusceptibility to acute chest syndrome and painful vaso-occlusive crises in children with sickle cell anemia., Haematologica , 91(9), 1277-8, 2006 PubMed
  2. Böhm F, Pernow J, The importance of endothelin-1 for vascular dysfunction in cardiovascular disease., Cardiovasc. Res. , 76(1), 8-18, 2007 PubMed
  3. Stow LR, Jacobs ME, Wingo CS, Cain BD, Endothelin-1 gene regulation., FASEB J. , 25(1), 16-28, 2011 PubMed
Created on 2016-04-27 12:34:09, Last reviewed on 2016-04-27 12:35:29 (Show full history)


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