EDN1
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| endothelin 1 | MIM:131240 | Ensembl:ENSG00000078401 | HGNC:HGNC:3176 | PA27614 | 6p24.1 |
GO terms in EDN1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005576 | extracellular region |
| CC | IDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0030133 | transport vesicle |
| CC | IEA | GO:0033093 | Weibel-Palade body |
| CC | IEA | GO:0045178 | basal part of cell |
| CC | IEA | GO:0048237 | rough endoplasmic reticulum lumen |
| BP | IDA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0001516 | prostaglandin biosynthetic process |
| BP | IEA | GO:0001569 | branching involved in blood vessel morphogenesis |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IEA | GO:0001821 | histamine secretion |
| BP | IDA | GO:0003100 | regulation of systemic arterial blood pressure by endothelin |
| BP | IEA | GO:0006885 | regulation of pH |
| BP | IDA | GO:0007166 | cell surface receptor signaling pathway |
| BP | IDA | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | TAS | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | IEA | GO:0007193 | adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway |
| BP | IDA | GO:0007204 | positive regulation of cytosolic calcium ion concentration |
| BP | IEA | GO:0007205 | protein kinase C-activating G-protein coupled receptor signaling pathway |
| BP | IDA | GO:0007267 | cell-cell signaling |
| BP | IEA | GO:0007507 | heart development |
| BP | IEA | GO:0007585 | respiratory gaseous exchange |
| BP | IEA | GO:0007589 | body fluid secretion |
| BP | IDA | GO:0008284 | positive regulation of cell proliferation |
| BP | IEA | GO:0009953 | dorsal/ventral pattern formation |
| BP | IEA | GO:0010193 | response to ozone |
| BP | IEA | GO:0010259 | multicellular organism aging |
| BP | IDA | GO:0010460 | positive regulation of heart rate |
| BP | IEA | GO:0010469 | regulation of signaling receptor activity |
| BP | TAS | GO:0010595 | positive regulation of endothelial cell migration |
| BP | IDA | GO:0010613 | positive regulation of cardiac muscle hypertrophy |
| BP | IEA | GO:0010827 | regulation of glucose transmembrane transport |
| BP | IDA | GO:0010870 | positive regulation of receptor biosynthetic process |
| BP | IEA | GO:0014032 | neural crest cell development |
| BP | IDA | GO:0014065 | phosphatidylinositol 3-kinase signaling |
| BP | IEA | GO:0014823 | response to activity |
| BP | IDA | GO:0014824 | artery smooth muscle contraction |
| BP | TAS | GO:0014824 | artery smooth muscle contraction |
| BP | IDA | GO:0014826 | vein smooth muscle contraction |
| BP | IEA | GO:0019229 | regulation of vasoconstriction |
| BP | IEA | GO:0019233 | sensory perception of pain |
| BP | IDA | GO:0019722 | calcium-mediated signaling |
| BP | IDA | GO:0030072 | peptide hormone secretion |
| BP | IDA | GO:0030185 | nitric oxide transport |
| BP | TAS | GO:0030195 | negative regulation of blood coagulation |
| BP | IDA | GO:0030335 | positive regulation of cell migration |
| BP | IDA | GO:0030593 | neutrophil chemotaxis |
| BP | IEA | GO:0031583 | phospholipase D-activating G-protein coupled receptor signaling pathway |
| BP | IDA | GO:0032269 | negative regulation of cellular protein metabolic process |
| BP | IEA | GO:0032308 | positive regulation of prostaglandin secretion |
| BP | IEA | GO:0032496 | response to lipopolysaccharide |
| BP | IEA | GO:0033574 | response to testosterone |
| BP | IEA | GO:0034392 | negative regulation of smooth muscle cell apoptotic process |
| BP | IEA | GO:0034696 | response to prostaglandin F |
| BP | IEA | GO:0035094 | response to nicotine |
| BP | IEA | GO:0035690 | cellular response to drug |
| BP | IEA | GO:0035810 | positive regulation of urine volume |
| BP | IEA | GO:0035815 | positive regulation of renal sodium excretion |
| BP | IEA | GO:0035994 | response to muscle stretch |
| BP | IEA | GO:0042045 | epithelial fluid transport |
| BP | IDA | GO:0042310 | vasoconstriction |
| BP | IDA | GO:0042313 | protein kinase C deactivation |
| BP | IEA | GO:0042474 | middle ear morphogenesis |
| BP | IEA | GO:0042482 | positive regulation of odontogenesis |
| BP | IEA | GO:0042554 | superoxide anion generation |
| BP | IEA | GO:0043179 | rhythmic excitation |
| BP | IEA | GO:0043200 | response to amino acid |
| BP | IDA | GO:0043406 | positive regulation of MAP kinase activity |
| BP | IDA | GO:0043507 | positive regulation of JUN kinase activity |
| BP | IEA | GO:0044321 | response to leptin |
| BP | TAS | GO:0045321 | leukocyte activation |
| BP | TAS | GO:0045429 | positive regulation of nitric oxide biosynthetic process |
| BP | IDA | GO:0045793 | positive regulation of cell size |
| BP | IDA | GO:0045840 | positive regulation of mitotic nuclear division |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0045987 | positive regulation of smooth muscle contraction |
| BP | IDA | GO:0046887 | positive regulation of hormone secretion |
| BP | IEA | GO:0046888 | negative regulation of hormone secretion |
| BP | IDA | GO:0048016 | inositol phosphate-mediated signaling |
| BP | IDA | GO:0048661 | positive regulation of smooth muscle cell proliferation |
| BP | IDA | GO:0051091 | positive regulation of DNA-binding transcription factor activity |
| BP | IEA | GO:0051216 | cartilage development |
| BP | IEA | GO:0051482 | positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway |
| BP | IDA | GO:0051771 | negative regulation of nitric-oxide synthase biosynthetic process |
| BP | IEA | GO:0051899 | membrane depolarization |
| BP | IEA | GO:0051930 | regulation of sensory perception of pain |
| BP | IEA | GO:0060137 | maternal process involved in parturition |
| BP | IMP | GO:0060298 | positive regulation of sarcomere organization |
| BP | IMP | GO:0060585 | positive regulation of prostaglandin-endoperoxide synthase activity |
| BP | IDA | GO:0061051 | positive regulation of cell growth involved in cardiac muscle cell development |
| BP | IGI | GO:0061051 | positive regulation of cell growth involved in cardiac muscle cell development |
| BP | IC | GO:0070101 | positive regulation of chemokine-mediated signaling pathway |
| BP | IEA | GO:0071277 | cellular response to calcium ion |
| BP | IEA | GO:0071346 | cellular response to interferon-gamma |
| BP | IEA | GO:0071347 | cellular response to interleukin-1 |
| BP | IEA | GO:0071356 | cellular response to tumor necrosis factor |
| BP | IEA | GO:0071375 | cellular response to peptide hormone stimulus |
| BP | IEA | GO:0071385 | cellular response to glucocorticoid stimulus |
| BP | IEA | GO:0071389 | cellular response to mineralocorticoid stimulus |
| BP | IEA | GO:0071398 | cellular response to fatty acid |
| BP | IEA | GO:0071456 | cellular response to hypoxia |
| BP | IEA | GO:0071548 | response to dexamethasone |
| BP | IEA | GO:0071560 | cellular response to transforming growth factor beta stimulus |
| BP | IEA | GO:0090023 | positive regulation of neutrophil chemotaxis |
| BP | IEA | GO:1901224 | positive regulation of NIK/NF-kappaB signaling |
| BP | IEA | GO:1902074 | response to salt |
| BP | IEA | GO:1904707 | positive regulation of vascular smooth muscle cell proliferation |
| MF | IDA | GO:0005125 | cytokine activity |
| MF | IDA | GO:0005179 | hormone activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0031707 | endothelin A receptor binding |
| MF | IDA | GO:0031708 | endothelin B receptor binding |
| MF | IPI | GO:0031708 | endothelin B receptor binding |
Gene expression in normal tissue: EDN1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in EDN1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-373076 | Class A/1 (Rhodopsin-like receptors) |
| reactome | R-HSA-375276 | Peptide ligand-binding receptors |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-416476 | G alpha (q) signalling events |
| reactome | R-HSA-500792 | GPCR ligand binding |
| biocarta | barrestinpathway | -arrestins in gpcr desensitization |
| biocarta | barrestinsrcpathway | roles of arrestin dependent recruitment of src kinases in gpcr signaling |
| biocarta | barrmapkpathway | role of -arrestins in the activation and targeting of map kinases |
| biocarta | cardiacegfpathway | role of egf receptor transactivation by gpcrs in cardiac hypertrophy |
| biocarta | cftrpathway | cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway |
| biocarta | chrebppathway | chrebp regulation by carbohydrates and camp |
| biocarta | cskpathway | activation of csk by camp-dependent protein kinase inhibits signaling through the t cell receptor |
| biocarta | gcrpathway | corticosteroids and cardioprotection |
| biocarta | gspathway | activation of camp-dependent protein kinase pka |
| biocarta | hifpathway | hypoxia-inducible factor in the cardivascular system |
| biocarta | nfatpathway | nfat and hypertrophy of the heart |
| biocarta | pkcpathway | activation of pkc through g-protein coupled receptors |
| biocarta | raccpathway | ion channels and their functional role in vascular endothelium |
| biocarta | tubbypathway | g-protein signaling through tubby proteins |
| pid | ap1_pathway | AP-1 transcription factor network |
| pid | endothelinpathway | Endothelins |
| pid | et_egfrpathway | EGFR-dependent Endothelin signaling events |
| pid | hif1_tfpathway | HIF-1-alpha transcription factor network |
| kegg | hsa04066 | HIF-1 signaling pathway - Homo sapiens (human) |
| kegg | hsa04668 | TNF signaling pathway - Homo sapiens (human) |
| kegg | hsa04916 | Melanogenesis - Homo sapiens (human) |
| kegg | hsa04926 | Relaxin signaling pathway - Homo sapiens (human) |
| kegg | hsa04933 | AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human) |
| kegg | hsa05418 | Fluid shear stress and atherosclerosis - Homo sapiens (human) |
| wikipathways | WP1528 | Physiological and Pathological Hypertrophy of the Heart |
| wikipathways | WP1544 | MicroRNAs in cardiomyocyte hypertrophy |
| wikipathways | WP2197 | Endothelin Pathways |
| wikipathways | WP3298 | Melatonin metabolism and effects |
| wikipathways | WP3614 | Photodynamic therapy-induced HIF-1 survival signaling |
| wikipathways | WP3624 | Lung fibrosis |
| wikipathways | WP98 | Prostaglandin Synthesis and Regulation |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD886 | Compound 1541A | 3 |
| iGMDRD341 | Triacsin c | 4 |
| iGMDRD577 | BIX01294 | 3 |
| iGMDRD61 | Kinetin riboside | 1 |
| iGMDRD427 | ABT737 | 4 |
| iGMDRD126 | Tipifarnib | 6 |
| iGMDRD270 | Ciclosporin | 2 |
| iGMDRD137 | Indisulam | 3 |
| iGMDRD474 | Avrainvillamide | 4 |
| iGMDRD255 | SB225002 | 3 |
| iGMDRD889 | Compound 7d-cis | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in EDN1
CLASSFICATION
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