EDN1

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]

Endothelin 1

Endothelins are endothelium-derived vasoconstrictor peptides (By similarity).

Probable ligand for G-protein coupled receptors EDNRA and EDNRB which activates PTK2B, BCAR1, BCAR3 and, GTPases RAP1 and RHOA cascade in glomerular mesangial cells (PubMed:19086031).

Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway Source: Ensembl
Artery smooth muscle contraction Source: BHF-UCL
Body fluid secretion Source: Ensembl
Branching involved in blood vessel morphogenesis Source: Ensembl
Calcium-mediated signaling Source: BHF-UCL
Cartilage development Source: Ensembl
Cell-cell signaling Source: BHF-UCL
Cell surface receptor signaling pathway Source: BHF-UCL
Cellular calcium ion homeostasis Source: GO_Central
Cellular response to calcium ion Source: Ensembl
Cellular response to drug Source: Ensembl
Cellular response to fatty acid Source: Ensembl
Cellular response to glucocorticoid stimulus Source: Ensembl
Cellular response to hypoxia Source: Ensembl
Cellular response to interferon-gamma Source: Ensembl
Cellular response to interleukin-1 Source: Ensembl
Cellular response to mineralocorticoid stimulus Source: Ensembl
Cellular response to peptide hormone stimulus Source: Ensembl
Cellular response to transforming growth factor beta stimulus Source: Ensembl
Cellular response to tumor necrosis factor Source: Ensembl
Dorsal/ventral pattern formation Source: Ensembl
Endothelin receptor signaling pathway Source: UniProtKB
Epithelial fluid transport Source: Ensembl
G protein-coupled receptor signaling pathway Source: BHF-UCL
Heart development Source: Ensembl
Histamine secretion Source: Ensembl
Inositol phosphate-mediated signaling Source: BHF-UCL
In utero embryonic development Source: Ensembl
Leukocyte activation Source: BHF-UCL
Maternal process involved in parturition Source: Ensembl
Membrane depolarization Source: Ensembl
Middle ear morphogenesis Source: Ensembl
Multicellular organism aging Source: Ensembl
Negative regulation of blood coagulation Source: BHF-UCL
Negative regulation of cellular protein metabolic process Source: BHF-UCL
Negative regulation of gene expression Source: Ensembl
Negative regulation of hormone secretion Source: Ensembl
Negative regulation of nitric-oxide synthase biosynthetic process Source: BHF-UCL
Negative regulation of smooth muscle cell apoptotic process Source: Ensembl
Negative regulation of transcription by RNA polymerase II Source: BHF-UCL
Neural crest cell development Source: Ensembl
Nitric oxide transport Source: BHF-UCL
Peptide hormone secretion Source: BHF-UCL
Phosphatidylinositol 3-kinase signaling Source: BHF-UCL
Phospholipase D-activating G protein-coupled receptor signaling pathway Source: Ensembl
Positive regulation of cardiac muscle hypertrophy Source: BHF-UCL
Positive regulation of cell growth involved in cardiac muscle cell development Source: BHF-UCL
Positive regulation of cell migration Source: BHF-UCL
Positive regulation of cell population proliferation Source: BHF-UCL
Positive regulation of cell size Source: BHF-UCL
Positive regulation of chemokine-mediated signaling pathway Source: BHF-UCL
Positive regulation of cytosolic calcium ion concentration Source: BHF-UCL
Positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling Pathway Source: Ensembl
Positive regulation of DNA-binding transcription factor activity Source: BHF-UCL
Positive regulation of endothelial cell migration Source: BHF-UCL
Positive regulation of heart rate Source: BHF-UCL
Positive regulation of hormone secretion Source: BHF-UCL
Positive regulation of JUN kinase activity Source: BHF-UCL
Positive regulation of MAP kinase activity Source: BHF-UCL
Positive regulation of mitotic nuclear division Source: BHF-UCL
Positive regulation of neutrophil chemotaxis Source: Ensembl
Positive regulation of NIK/NF-kappaB signaling Source: Ensembl
Positive regulation of nitric oxide biosynthetic process Source: BHF-UCL
Positive regulation of odontogenesis Source: Ensembl
Positive regulation of prostaglandin-endoperoxide synthase activity Source: BHF-UCL
Positive regulation of prostaglandin secretion Source: Ensembl
Positive regulation of renal sodium excretion Source: Ensembl
Positive regulation of sarcomere organization Source: BHF-UCL
Positive regulation of signaling receptor activity Source: BHF-UCL
Positive regulation of smooth muscle cell proliferation Source: BHF-UCL
Positive regulation of smooth muscle contraction Source: Ensembl
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Positive regulation of urine volume Source: Ensembl
Positive regulation of vascular associated smooth muscle cell proliferation Source: Ensembl
Prostaglandin biosynthetic process Source: BHF-UCL
Protein kinase C-activating G protein-coupled receptor signaling pathway Source: Ensembl
Protein kinase C deactivation Source: BHF-UCL
Regulation of glucose transmembrane transport Source: Ensembl
Regulation of pH Source: Ensembl
Regulation of sensory perception of pain Source: Ensembl
Regulation of systemic arterial blood pressure by endothelin Source: BHF-UCL
Regulation of vasoconstriction Source: InterPro
Respiratory gaseous exchange by respiratory system Source: Ensembl
Response to activity Source: Ensembl
Response to amino acid Source: Ensembl
Response to dexamethasone Source: Ensembl
Response to leptin Source: Ensembl
Response to lipopolysaccharide Source: Ensembl
Response to muscle stretch Source: Ensembl
Response to nicotine Source: Ensembl
Response to ozone Source: Ensembl
Response to prostaglandin F Source: Ensembl
Response to salt Source: Ensembl
Response to testosterone Source: Ensembl
Rhythmic excitation Source: Ensembl
Sensory perception of pain Source: Ensembl
Superoxide anion generation Source: Ensembl
Vasoconstriction Source: BHF-UCL
Vein smooth muscle contraction Source: BHF-UCL

Secreted

Question mark ears, isolated (QME):
An auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus.
Auriculocondylar syndrome 3 (ARCND3):
A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.