GeneID: 110


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

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


Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage.

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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.