EDN1: Polycystic Ovarian Syndrome Database

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EDN1

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

EDN1

Aliases

ARCND3, ET1, HDLCQ7, PPET1, QME

Entrez Gene ID

1906

Gene Name

Endothelin 1

Chromosomal Location

6p24.1

HGNC ID

HGNC:3176

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]

RefSeq DNA

NG_016196.1

RefSeq mRNA

NM_001955.5, NM_001168319.2

e!Ensembl

Gene	ENSG00000078401
Transcript	ENST00000379375
Protein	ENSP00000368683

Gene Ontology (GO)

Show/Hide all(50 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000122	Biological process	Negative regulation of transcription by RNA polymerase II	IDA	19767294
GO:0001516	Biological process	Prostaglandin biosynthetic process	IDA	9492062
GO:0003100	Biological process	Regulation of systemic arterial blood pressure by endothelin	IDA	2649896
GO:0007166	Biological process	Cell surface receptor signaling pathway	IDA	1713452
GO:0007186	Biological process	G protein-coupled receptor signaling pathway	IDA	17078114
GO:0007204	Biological process	Positive regulation of cytosolic calcium ion concentration	IDA	1917960
GO:0007267	Biological process	Cell-cell signaling	IDA	12379507
GO:0008284	Biological process	Positive regulation of cell proliferation	IDA	1917960, 17078114
GO:0010460	Biological process	Positive regulation of heart rate	IDA	2649896
GO:0010595	Biological process	Positive regulation of endothelial cell migration	TAS	8999856
GO:0010613	Biological process	Positive regulation of cardiac muscle hypertrophy	IDA	12847114
GO:0010870	Biological process	Positive regulation of receptor biosynthetic process	IDA	17178876
GO:0014065	Biological process	Phosphatidylinositol 3-kinase signaling	IDA	17078114
GO:0014824	Biological process	Artery smooth muscle contraction	IDA	8982507
GO:0014824	Biological process	Artery smooth muscle contraction	TAS	1725334
GO:0014826	Biological process	Vein smooth muscle contraction	IDA	9422810
GO:0019722	Biological process	Calcium-mediated signaling	IDA	1917960, 10770212
GO:0030072	Biological process	Peptide hormone secretion	IDA	10770212
GO:0030185	Biological process	Nitric oxide transport	IDA	16820593
GO:0030195	Biological process	Negative regulation of blood coagulation	TAS	16820593
GO:0030335	Biological process	Positive regulation of cell migration	IDA	9696419
GO:0030593	Biological process	Neutrophil chemotaxis	IDA	9696419
GO:0032269	Biological process	Negative regulation of cellular protein metabolic process	IDA	19767294
GO:0042310	Biological process	Vasoconstriction	IDA	2649896, 11410113
GO:0042313	Biological process	Protein kinase C deactivation	IDA	16820593
GO:0043406	Biological process	Positive regulation of MAP kinase activity	IDA	10770212, 12847114
GO:0043507	Biological process	Positive regulation of JUN kinase activity	IDA	12847114
GO:0045321	Biological process	Leukocyte activation	TAS	16820593
GO:0045429	Biological process	Positive regulation of nitric oxide biosynthetic process	TAS	8999856
GO:0045793	Biological process	Positive regulation of cell size	IDA	12847114
GO:0045840	Biological process	Positive regulation of mitotic nuclear division	IDA	10770212
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	24117217
GO:0046887	Biological process	Positive regulation of hormone secretion	IDA	10770212
GO:0048016	Biological process	Inositol phosphate-mediated signaling	IDA	1917960
GO:0048661	Biological process	Positive regulation of smooth muscle cell proliferation	IDA	10393673
GO:0051091	Biological process	Positive regulation of DNA-binding transcription factor activity	IDA	24117217
GO:0051771	Biological process	Negative regulation of nitric-oxide synthase biosynthetic process	IDA	16820593
GO:0060298	Biological process	Positive regulation of sarcomere organization	IMP	12847114
GO:0060585	Biological process	Positive regulation of prostaglandin-endoperoxide synthase activity	IMP	9492062
GO:0061051	Biological process	Positive regulation of cell growth involved in cardiac muscle cell development	IDA	24117217
GO:0061051	Biological process	Positive regulation of cell growth involved in cardiac muscle cell development	IGI	24117217
GO:0070101	Biological process	Positive regulation of chemokine-mediated signaling pathway	IC	17178876
GO:0005615	Cellular component	Extracellular space	IDA	10770212, 15691296, 16820593
GO:0005737	Cellular component	Cytoplasm	IDA	12379507
GO:0005125	Molecular function	Cytokine activity	IDA	19767294
GO:0005179	Molecular function	Hormone activity	IDA	2649896, 10770212
GO:0005515	Molecular function	Protein binding	IPI	23597562
GO:0031707	Molecular function	Endothelin A receptor binding	IDA	10770212
GO:0031708	Molecular function	Endothelin B receptor binding	IDA	10770212
GO:0031708	Molecular function	Endothelin B receptor binding	IPI	1713452

Protein Information

Protein Name

Endothelin-1, preproendothelin-1

Function

Endothelins are endothelium-derived vasoconstrictor peptides

Refseq Proteins

NP_001946.3, NP_001161791.1

UniProt

P05305

PDB

1EDN, 1EDP, 1T7H, 1V6R, 5GLH, 6DK5

Pfam

Pfam Accession	Pfam ID
PF00322	Endothelin

Pathways
	KEGG	Reactome
	cAMP signaling pathway HIF-1 signaling pathway Neuroactive ligand-receptor interaction Vascular smooth muscle contraction TNF signaling pathway Melanogenesis Renin secretion Relaxin signaling pathway AGE-RAGE signaling pathway in diabetic complications Pathways in cancer Hypertrophic cardiomyopathy (HCM) Fluid shear stress and atherosclerosis	Peptide ligand-binding receptors G alpha (q) signalling events

Interactions

STRING	MINT	IntAct
ENSP00000362727		Q8TEH3

View interactions

Associated Diseases

Show/Hide all(11 )

Disease group	Disease Name	References
Cardiovascular Diseases
	Hypertensive disease	12425201, 15314687, 11847185, 12149661, 12600921, 15188945, 10669576, 17130675, 15834289, 10474778, 8440307, 8152482, 15302986, 7721406
	Heart Failure	11136700, 16360360, 9861300, 16762801, 7967349, 7969316, 11707688
	Myocardial Ischemia	16306806, 11707688, 10462014
	Cardiomyopathy	11589785
	Myocardial Failure	7967349, 9861300, 16360360, 11707688, 16762801, 7969316, 11136700
	Atrial Fibrillation	16762801
	Cardiovascular Abnormalities	9671575, 20707411
	Left Ventricular Hypertrophy	10601118, 15486036
	Myocardial Diseases	11589785
	Arteriosclerosis	29212778
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
	Auriculocondylar Syndrome	24268655, 12244558, 23315542
	Hemorrhages	8587695
Digestive System Diseases
	Hepatorenal Syndrome	7967349
	Peptic Ulcer	16384872
	Cholera Infantum	16324314
	Gastrointestinal Diseases	16324314
	Marginal ulcer	16384872
	Oral ulcer	16391412
Endocrine System Diseases
	Diabetes Mellitus	16387788
	PCOS	22727793
Musculoskeletal Diseases
	Cartilage Diseases	20707411
	Chondromalacia	20707411
Nervous System Diseases
	Stroke	20083630
	Parkinson Disease	19276553
	Cerebrovascular Occlusion	17578707
	Middle Cerebral Artery Syndrome	17197033
	Cerebrovascular Insufficiency	17578707
	Cerebral Artery Infarction	17197033
	Brain Infarction	17197033
	Cerebral Thrombosis	17197033
	Cerebrovascular Disorders	17578707
Nutritional and Metabolic Diseases
Nutritional and Metabolic Diseases	Hypercholesterolemia	15486036
Psychiatric/Brain disorders
	Lewy Body Disease	19276553
	Mood Disorders	19475602
	Obstructive Sleep Apnea	27492897, 28514291, 24010499, 18580062, 20083432
Renal Disorder
	Overactive Bladder	15371886
	Kidney Failure	7967349, 9788586
	Glomerular Hyalinosis	16191423
	Kidney Insufficiency	7967349, 9788586
	Nephrosis	7756592
	Glomerulosclerosis	16191423
Reproductive disorders
Reproductive disorders	Preeclampsia	29674204, 28115513, 24252708
Respiratory Tract Diseases
	Pulmonary Fibrosis	17235729
	Asthma	16981460
	Respiratory Distress Syndrome	16625121

References

Show/Hide all(10)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
22727793	Endothelin-2			Rotterdam criteria	Related		GLCs from women with PCOS, Endothelin-1 mRNA expression was elevated (2.2-fold) as compared with normally ovulating women, whereas endothelin-2 mRNA was reduced (1.8-fold)
22281885		Endothelial dysfunction		NIH criteria	Related		ET-1 levels were positively and strongly associated with AGEs in both PCOS women and controls, suggesting that the detrimental effect of AGEs on endothelial cells may involve increased ET-1 production
18787386	C-reactive protein	Cardiovascular risk factors			Related		ET-1 levels were higher in PCOS patients compared to controls
17900581	CRP	Cardiovascular risk			Related		ET1 was significantly higher in PCOS women compared to controls
17418849	ADMA	Endothelial dysfunction			Related		ET-1 and ADMA concentrations were higher in women with PCOS, and they were positively correlated with each other.
16968464	hsCRP,soluble ICAM-1,soluble VCAM-1,SHGB	Hyperandrogenaemia			Related		The present study demonstrates that endothelial dysfunction coexists and is influenced by the presence of increased serum levels of inflammation and endothelial activation markers in young women with PCOS.
15879361		Endothelial dysfunction			Related		PCOS women were found to exhibit endothelial dysfunction compared with controls
11600523		Hyperandrogenemia, hyperinsulinemia,endothelial dysfunction and insulin resistance		NIH criteria	Related		Women with polycystic ovary syndrome, obese and nonobese, have elevated endothelin-1 levels compared with the age-matched control group.
18462732	Androgens, leptin, fibrinogen, homocysteine,	Cardiovascular risk		Authors criteria	Related		Endothelin-1 was significantly higher in lean controls compared with obese controls and obese PCOS patients
22703625	MDA,Apo A1, Apo B,PON1,SHBG,DHEAS	Insulin resistance, dyslipidemia, endothelial dysfunction,cardiovascular disease and oxidative stress			Related		Significantly decreased SHBG, NO, HDL-C levels, and PON1 activities, but increased tT, fT, androstenedione, DHEAS, HOMA index, MDA, ET-1, LDL-C, sdLDL-C, and LbLDL-C values were found in PCOS patients compared with those of controls.

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