EDN1 cDNA Clone – Endothelin 1 (Human)

This gene encodes a preproprotein that is proteolytically processed to generate a secreted peptide that belongs to the endothelin/sarafotoxin family. This peptide is a potent vasoconstrictor and its cognate receptors are therapeutic targets in the treatment of pulmonary arterial hypertension. Aberrant expression of this gene may promote tumorigenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

EDN1: Endothelins are endothelium-derived vasoconstrictor peptides. Belongs to the endothelin/sarafotoxin family.

Protein type: Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 6p24.1

Cellular Component: cytoplasm; extracellular region; extracellular space

Molecular Function: cytokine activity; endothelin A receptor binding; endothelin B receptor binding; hormone activity; protein binding

Biological Process: artery smooth muscle contraction; calcium-mediated signaling; cell surface receptor linked signal transduction; cell-cell signaling; elevation of cytosolic calcium ion concentration; G-protein coupled receptor protein signaling pathway; inositol phosphate-mediated signaling; leukocyte activation; negative regulation of blood coagulation; negative regulation of cellular protein metabolic process; negative regulation of nitric-oxide synthase biosynthetic process; negative regulation of transcription from RNA polymerase II promoter; neutrophil chemotaxis; nitric oxide transport; peptide hormone secretion; phosphoinositide 3-kinase cascade; positive regulation of cell migration; positive regulation of cell proliferation; positive regulation of cell size; positive regulation of heart rate; positive regulation of hormone secretion; positive regulation of JNK activity; positive regulation of MAP kinase activity; positive regulation of mitosis; positive regulation of nitric oxide biosynthetic process; positive regulation of smooth muscle cell proliferation; positive regulation of transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; prostaglandin biosynthetic process; protein kinase C deactivation; regulation of systemic arterial blood pressure by endothelin; vasoconstriction; vein smooth muscle contraction

Disease: Auriculocondylar Syndrome 3; Question Mark Ears, Isolated