EDN1 - endothelin 1 Gene
Also Known as ET1; QME; PPET1; ARCND3; HDLCQ7
Species: Homo sapiens
About EDN1
This gene has 1 transcript (splice variant), 131 orthologues, 2 paralogues and is associated with 5 phenotypes. Broad expression in lung (RPKM 13.6), fat (RPKM 10.9) and 23 other tissues.
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]
EDN1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001168319.2 | NP_001161791.1 | endothelin-1 isoform 2 preproprotein |
| NM_001955.5 | NP_001946.3 | endothelin-1 isoform 1 preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables cytokine activity |
IDA
IDA: Inferred from direct assay
|
19767294 | GOA |
| enables endothelin A receptor binding |
IDA
IDA: Inferred from direct assay
|
10770212 | GOA |
| enables endothelin B receptor binding |
IDA
IDA: Inferred from direct assay
|
10770212 | GOA |
| enables endothelin B receptor binding |
IPI
IPI: Inferred from physical interaction
|
1713452 | GOA |
| enables hormone activity |
IDA
IDA: Inferred from direct assay
|
2649896 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
17446437 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
12379507 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
10770212 | GOA |
EDN1 Protein Structure
Endothelin: Endothelin family (49 - 78)
- 0
- 100
- 200
- 212 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
endothelin-1 |
|
Recombinant EDN1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P700460 | Endothelin-1/EDN1 Protein, Human (GST) | P05305 (C53-W73) | ≥ 90%, as determined by reducing SDS-PAGE. |
EDN1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P810323 | EDN1 Antibody | WB, IHC-P, ICC/IF | Human |
| HY-P83958 | EDN1 Antibody (YA3655) | ICC/IF, FC, ELISA | Human, Mouse |
| HY-P83958A | EDN1 Antibody (YA3655)(PBS only) | ICC/IF, FC, ELISA | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Question Mark Ears, Isolated |
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| Auriculocondylar Syndrome 3 |
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| Auriculo-Condylar Syndrome |
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| Angina Pectoris |
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| Renal Hypertension |
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| Raynaud Disease |
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| Pulmonary Hypertension |
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| Hepatorenal Syndrome |
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| Hepatopulmonary Syndrome |
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| Coronary Artery Vasospasm |
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| Portal Hypertension |
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| Congestive Heart Failure |
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| Intermediate Coronary Syndrome |
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| Arteriosclerosis |
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| Acute Chest Syndrome |
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| Myocardial Stunning |
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| Liver Cirrhosis |
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| Impotence |
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| Heart Disease |
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| Vascular Disease |
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| Hypertension, Essential |
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| Glaucoma, Normal Tension |
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| Priapism |
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| Diabetic Angiopathy |
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| Pulmonary Edema |
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| Sleep Apnea |
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| Pre-Eclampsia |
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| Ischemia |
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| Interstitial Lung Disease |
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| Kidney Disease |
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| Hyperinsulinism |
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| Acute Myocardial Infarction |
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| Retinal Vein Occlusion |
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| Chronic Pulmonary Heart Disease |
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| Cardiovascular System Disease |
|
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| Pulmonary Fibrosis |
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| Systemic Scleroderma |
|
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| Intracranial Berry Aneurysm |
|
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| Lipoprotein Quantitative Trait Locus |
|
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| Oligohydramnios |
|
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| Atrial Standstill 1 |
|
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| Migraine With Aura |
|
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| Scleroderma, Familial Progressive |
|
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| Lung Disease |
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| Eclampsia |
|
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| Nonarteritic Anterior Ischemic Optic Neuropathy |
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| Ankylosis |
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| Type 2 Diabetes Mellitus |
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| Atherosclerosis Susceptibility |
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| Hemiplegia |
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| Congenital Central Hypoventilation Syndrome |
|
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| Meconium Aspiration Syndrome |
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| Perinephritis |
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| Intraocular Pressure Quantitative Trait Locus |
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| Hellp Syndrome |
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| Syncope |
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| Myocardial Infarction |
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| Persistent Fetal Circulation Syndrome |
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| Takayasu Arteritis |
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| Filariasis |
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| Bronchiolitis Obliterans |
|
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| Optic Nerve Disease |
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| Pulmonary Valve Insufficiency |
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| Gingival Overgrowth |
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| Optic Neuritis |
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| Polycythemia |
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| Hepatic Vascular Disease |
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| Bacterial Meningitis |
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| Intracranial Vasospasm |
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| Polyhydramnios |
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| Interstitial Lung Disease 2 |
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| Diastolic Heart Failure |
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| Microvascular Complications Of Diabetes 1 |
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| Malignant Renovascular Hypertension |
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| Renovascular Hypertension |
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| Retinal Detachment |
|
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| Mandibulofacial Dysostosis With Alopecia |
|
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| Tetralogy Of Fallot |
|
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| Malignant Secondary Hypertension |
|
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| Apnea, Obstructive Sleep |
|
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| Dilated Cardiomyopathy |
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| Buerger Disease |
|
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| Diabetes Mellitus |
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| Myocarditis |
|
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| Cerebral Arterial Disease |
|
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| Diffuse Scleroderma |
|
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| Tricuspid Valve Insufficiency |
|
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| Dowling-Degos Disease 1 |
|
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| Chronic Kidney Disease |
|
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| Hypertensive Encephalopathy |
|
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| Tricuspid Valve Disease |
|
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| Hypertensive Heart Disease |
|
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| Pulmonary Venoocclusive Disease |
|
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| Asthma |
|
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| Retinal Microaneurysm |
|
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| Connective Tissue Disease |
|
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| Malaria |
|
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| Retinal Vascular Occlusion |
|
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| Limited Scleroderma |
|
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| Systolic Heart Failure |
|
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| Central Retinal Artery Occlusion |
|
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| Lentigines |
|
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| Conjunctival Vascular Disease |
|
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| Peripheral Vascular Disease |
|
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| Mitral Valve Stenosis |
|
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| Nephrotic Syndrome |
|
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| Mitral Valve Disease |
|
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| Conn'S Syndrome |
|
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| Cerebral Artery Occlusion |
|
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| Pheochromocytoma |
|
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| Glaucoma, Primary Open Angle |
|
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| Vein Disease |
|
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| Arteries, Anomalies Of |
|
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| Aortic Valve Disease 1 |
|
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| Patent Ductus Arteriosus 1 |
|
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| Retinal Ischemia |
|
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| Ewing Sarcoma |
|
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| Ovarian Cancer |
|
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| Heart Valve Disease |
|
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| Nonobstructive Coronary Artery Disease |
|
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| Sleep Disorder |
|
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| Anhidrosis, Isolated, With Normal Sweat Glands |
|
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| Thrombocytopenia |
|
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| Systemic Lupus Erythematosus |
|
|
| Patent Foramen Ovale |
|
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| Diaphragmatic Hernia, Congenital |
|
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| Femoral Cancer |
|
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| Retinitis Pigmentosa |
|
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| Osteoporosis |
|
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| Colorectal Cancer |
|
|
| Migraine With Or Without Aura 1 |
|
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| Atrial Heart Septal Defect |
|
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| Lipid Metabolism Disorder |
|
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| Hirschsprung Disease 1 |
|
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| Autosomal Dominant Polycystic Kidney Disease |
|
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| Hypertrophic Cardiomyopathy |
|
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| Eye Disease |
|
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| Peripheral Nervous System Disease |
|
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| Nervous System Disease |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | EDN1 | VGNC | VGNC:40199 |
| Felis catus | EDN1 | VGNC | VGNC:97177 |
| Mus musculus | EDN1 | MGD | MGI:95283 |
| Macaca mulatta | EDN1 | VGNC | VGNC:104374 |
| Rattus norvegicus | EDN1 | RGD | RGD:2532 |
| Bos taurus | EDN1 | VGNC | VGNC:28327 |
| Others | EDN1 | NCBI |