NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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: extracellular space; cytoplasm; extracellular region
Molecular Function: protein binding; hormone activity; endothelin B receptor binding; cytokine activity; endothelin A receptor binding
Biological Process: response to nicotine; positive regulation of JNK activity; elevation of cytosolic calcium ion concentration during G-protein signaling, coupled to IP3 second messenger (phospholipase C activating); positive regulation of nitric oxide biosynthetic process; regulation of systemic arterial blood pressure by endothelin; heart development; response to lipopolysaccharide; middle ear morphogenesis; prostaglandin biosynthetic process; sensory perception of pain; positive regulation of MAP kinase activity; elevation of cytosolic calcium ion concentration; negative regulation of cAMP biosynthetic process; cell surface receptor linked signal transduction; cell-cell signaling; negative regulation of nitric-oxide synthase biosynthetic process; protein kinase C activation; cell growth; neutrophil chemotaxis; rhythmic excitation; positive regulation of mitosis; negative regulation of blood coagulation; positive regulation of heart rate; response to testosterone stimulus; respiratory gaseous exchange; response to amino acid stimulus; peptide hormone secretion; leukocyte activation; patterning of blood vessels; membrane depolarization; protein kinase C deactivation; regulation of vasoconstriction; positive regulation of transcription from RNA polymerase II promoter; response to activity; superoxide release; positive regulation of odontogenesis; epithelial fluid transport; phosphoinositide 3-kinase cascade; positive regulation of cell size; neural crest cell development; G-protein signaling, phospholipase D activating pathway; positive regulation of smooth muscle cell proliferation; negative regulation of hormone secretion; negative regulation of cellular protein metabolic process; negative regulation of transcription from RNA polymerase II promoter; glucose transport; vein smooth muscle contraction; histamine secretion; nitric oxide transport; positive regulation of cell proliferation; regulation of pH; positive regulation of smooth muscle contraction; artery smooth muscle contraction; vasoconstriction; inositol phosphate-mediated signaling; in utero embryonic development; calcium-mediated signaling; positive regulation of hormone secretion; multicellular organismal aging; body fluid secretion; G-protein coupled receptor protein signaling pathway; dorsal/ventral pattern formation; response to ozone; cartilage development; positive regulation of prostaglandin secretion; maternal process involved in parturition; regulation of sensory perception of pain; positive regulation of cell migration
Disease: Question Mark Ears, Isolated; Auriculocondylar Syndrome 3