• Gene id: 1906

Gene Summary

• Gene Symbol: EDN1   Gene   UCSC   Ensembl
• Aliases: ARCND3, ET1, HDLCQ7, PPET1, QME
• Gene name: endothelin 1
• Alternate names: endothelin-1, preproendothelin-1,
• Gene location: 6p24.1 (12256462: 12297193)     Exons: 9     NC_000006.12
• Gene summary(Entrez): 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 treatme
• OMIM: 136131

Protein Summary

• Protein general information: P05305  
  • Name: Endothelin 1 (Preproendothelin 1) (PPET1) [Cleaved into: Endothelin 1 (ET 1); Big endothelin 1]
  • Length: 212  
  • Mass: 24425
  • Tissue specificity: Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. {ECO
• Sequence:

  MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGGEKPTPSPPWRLRRSKRCSCSSLMDKECVYFCHLDIIWVN
  TPEHVVPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCWNFCQAGKELRAEDIMEKDWNNHKKGKDCSK
  LGKKCIYQQLVRGRKIRRSSEEHLRQTRSETMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW

• Structural information:
  • Interpro: IPR020475  IPR019764  IPR001928  
  • Prosite: PS00270
  • PDB: 1EDN 1EDP 1T7H 1V6R 5GLH 6DK5
  • PDBsum: 1EDN 1EDP 1T7H 1V6R 5GLH 6DK5
  • STRING: ENSP00000368683
• Other Databases: GeneCards:  EDN1  Malacards:  EDN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0019229	regulation of vasoconstriction	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0042310	vasoconstriction	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0030133	transport vesicle	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001666	response to hypoxia	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0010193	response to ozone	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0014824	artery smooth muscle contraction	IEA	biological process
GO:0031708	endothelin B receptor binding	IEA	molecular function
GO:0032308	positive regulation of prostaglandin secretion	IEA	biological process
GO:0033093	Weibel-Palade body	IEA	cellular component
GO:0034392	negative regulation of smooth muscle cell apoptotic process	IEA	biological process
GO:0035690	cellular response to drug	IEA	biological process
GO:0035994	response to muscle stretch	IEA	biological process
GO:0042045	epithelial fluid transport	IEA	biological process
GO:0042554	superoxide anion generation	IEA	biological process
GO:0045178	basal part of cell	IEA	cellular component
GO:0045987	positive regulation of smooth muscle contraction	IEA	biological process
GO:0048237	rough endoplasmic reticulum lumen	IEA	cellular component
GO:0060137	maternal process involved in parturition	IEA	biological process
GO:0071277	cellular response to calcium ion	IEA	biological process
GO:0071346	cellular response to interferon-gamma	IEA	biological process
GO:0071356	cellular response to tumor necrosis factor	IEA	biological process
GO:0071389	cellular response to mineralocorticoid stimulus	IEA	biological process
GO:0071398	cellular response to fatty acid	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0071548	response to dexamethasone	IEA	biological process
GO:0071559	response to transforming growth factor beta	IEA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA	biological process
GO:1902074	response to salt	IEA	biological process
GO:1904707	positive regulation of vascular smooth muscle cell proliferation	IEA	biological process
GO:0001501	skeletal system development	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0007205	protein kinase C-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0009953	dorsal/ventral pattern formation	IEA	biological process
GO:0010827	regulation of glucose transmembrane transport	IEA	biological process
GO:0014032	neural crest cell development	IEA	biological process
GO:0031583	phospholipase D-activating G protein-coupled receptor signaling pathway	IEA	biological process
GO:0045987	positive regulation of smooth muscle contraction	IEA	biological process
GO:0048514	blood vessel morphogenesis	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0001821	histamine secretion	IEA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0010259	multicellular organism aging	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0019233	sensory perception of pain	IEA	biological process
GO:0031707	endothelin A receptor binding	IEA	molecular function
GO:0032496	response to lipopolysaccharide	IEA	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0034696	response to prostaglandin F	IEA	biological process
GO:0035094	response to nicotine	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0042310	vasoconstriction	IEA	biological process
GO:0042482	positive regulation of odontogenesis	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043200	response to amino acid	IEA	biological process
GO:0044321	response to leptin	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0046888	negative regulation of hormone secretion	IEA	biological process
GO:0051899	membrane depolarization	IEA	biological process
GO:0051930	regulation of sensory perception of pain	IEA	biological process
GO:0071347	cellular response to interleukin-1	IEA	biological process
GO:0071375	cellular response to peptide hormone stimulus	IEA	biological process
GO:0071385	cellular response to glucocorticoid stimulus	IEA	biological process
GO:0090023	positive regulation of neutrophil chemotaxis	IEA	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IEA	biological process
GO:0001569	branching involved in blood vessel morphogenesis	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0006885	regulation of pH	IEA	biological process
GO:0007193	adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007585	respiratory gaseous exchange by respiratory system	IEA	biological process
GO:0007589	body fluid secretion	IEA	biological process
GO:0031707	endothelin A receptor binding	IEA	molecular function
GO:0035810	positive regulation of urine volume	IEA	biological process
GO:0035815	positive regulation of renal sodium excretion	IEA	biological process
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0043179	rhythmic excitation	IEA	biological process
GO:0051482	positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway	IEA	biological process
GO:0031708	endothelin B receptor binding	IPI	molecular function
GO:0005125	cytokine activity	IDA	molecular function
GO:0031708	endothelin B receptor binding	IDA	molecular function
GO:0005179	hormone activity	IDA	molecular function
GO:0005179	hormone activity	IDA	molecular function
GO:0031707	endothelin A receptor binding	IDA	molecular function
GO:0003100	regulation of systemic arterial blood pressure by endothelin	IDA	biological process
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0007267	cell-cell signaling	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0008284	positive regulation of cell population proliferation	IDA	biological process
GO:0010460	positive regulation of heart rate	IDA	biological process
GO:0010613	positive regulation of cardiac muscle hypertrophy	IDA	biological process
GO:0014065	phosphatidylinositol 3-kinase signaling	IDA	biological process
GO:0014824	artery smooth muscle contraction	IDA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0030593	neutrophil chemotaxis	IDA	NOT|biological process
GO:0043406	positive regulation of MAP kinase activity	IDA	biological process
GO:0043406	positive regulation of MAP kinase activity	IDA	biological process
GO:0046887	positive regulation of hormone secretion	IDA	biological process
GO:0051771	negative regulation of nitric-oxide synthase biosynthetic process	IDA	biological process
GO:0010595	positive regulation of endothelial cell migration	TAS	biological process
GO:0014824	artery smooth muscle contraction	TAS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0001516	prostaglandin biosynthetic process	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0007166	cell surface receptor signaling pathway	IDA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IDA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IDA	biological process
GO:0010870	positive regulation of receptor biosynthetic process	IDA	biological process
GO:0014826	vein smooth muscle contraction	IDA	biological process
GO:0019722	calcium-mediated signaling	IDA	biological process
GO:0019722	calcium-mediated signaling	IDA	biological process
GO:0030072	peptide hormone secretion	IDA	biological process
GO:0030185	nitric oxide transport	IDA	biological process
GO:0032269	negative regulation of cellular protein metabolic process	IDA	biological process
GO:0042310	vasoconstriction	IDA	biological process
GO:0042310	vasoconstriction	IDA	biological process
GO:0042313	protein kinase C deactivation	IDA	biological process
GO:0043507	positive regulation of JUN kinase activity	IDA	biological process
GO:0045793	positive regulation of cell size	IDA	biological process
GO:0045840	positive regulation of mitotic nuclear division	IDA	biological process
GO:0048016	inositol phosphate-mediated signaling	IDA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IDA	biological process
GO:0070101	positive regulation of chemokine-mediated signaling pathway	IC	biological process
GO:0030195	negative regulation of blood coagulation	TAS	biological process
GO:0045321	leukocyte activation	TAS	biological process
GO:0045429	positive regulation of nitric oxide biosynthetic process	TAS	biological process
GO:0060298	positive regulation of sarcomere organization	IMP	biological process
GO:0060585	positive regulation of prostaglandin-endoperoxide synthase activity	IMP	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0061051	positive regulation of cell growth involved in cardiac muscle cell development	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0061051	positive regulation of cell growth involved in cardiac muscle cell development	IGI	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0086100	endothelin receptor signaling pathway	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04080	Neuroactive ligand-receptor interaction
hsa04024	cAMP signaling pathway
hsa04270	Vascular smooth muscle contraction
hsa05418	Fluid shear stress and atherosclerosis
hsa04926	Relaxin signaling pathway
hsa04916	Melanogenesis
hsa04668	TNF signaling pathway
hsa04066	HIF-1 signaling pathway
hsa05410	Hypertrophic cardiomyopathy
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa04924	Renin secretion

Diseases

Associated diseases	References
Auriculocondylar syndrome	KEGG:H01884
Auriculocondylar syndrome	KEGG:H01884
Sleep apnea	PMID:17198911
Sleep apnea	PMID:18580062
Atrial fibrillation	PMID:22669310
Retinitis pigmentosa	PMID:20005906
primary open angle glaucoma	PMID:22406080
Hypertension	PMID:18496905
Hypertension	PMID:11078355
Adult respiratory distress syndrome	PMID:8256914
Cardiomyopathy	PMID:10026353
Behcet's disease	PMID:9132327
low tension glaucoma	PMID:21946544
angle-closure glaucoma	PMID:21946544
Exfoliation syndrome	PMID:15031170
Cystic fibrosis	PMID:10445603
Neovascular glaucoma	PMID:20373895
Optic nerve disease	PMID:18442442
Multiple sclerosis	PMID:12646761
Bronchiolitis obliterans	PMID:9595474
Asthma	PMID:20588001
Asthma	PMID:11668616
Chronic obstructive pulmonary disease	PMID:10445603
Chronic obstructive pulmonary disease	PMID:20707291
Coronary artery disease	PMID:7968078
Coronary artery disease	PMID:18923236
Pulmonary fibrosis	PMID:9284832
ovarian carcinoma	PMID:9973223
systemic scleroderma	PMID:7653485
Coronary stenosis	PMID:10854676
Retinal detachment	PMID:23974951
Myocardial infarction	PMID:17893002
Myocardial infarction	PMID:12581682
congestive heart failure	PMID:8149524
congestive heart failure	PMID:10973842
Pulmonary hypertension	PMID:20890431
Rheumatoid arthritis	PMID:22249931
intermediate coronary syndrome	PMID:14556009
Diabetic retinopathy	PMID:19293263
Diabetic retinopathy	PMID:18806884
autosomal dominant polycystic kidney disease	PMID:12629276
type 2 diabetes mellitus	PMID:19581418
Neovascular inflammatory vitreoretinopathy	PMID:23974951
type 1 diabetes mellitus	PMID:2198188
obesity	PMID:17444275
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881