EDN1

Gene Information
 
Gene Symbol
EDN1
 
Aliases
ARCND3, ET1, HDLCQ7, PPET1, QME
 
Entrez Gene ID
 
Gene Name
Endothelin 1
 
Chromosomal Location
6p24.1
 
HGNC ID
 
Summary
The protein encoded by this gene is proteolytically processed to release a secreted peptide termed endothelin 1. This peptide is a potent vasoconstrictor and is produced by vascular endothelial cells. Endothelin 1 also can affect the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Nov 2009)
 
GeneCards ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0000122 Biological process Negative regulation of transcription from RNA polymerase II promoter 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
Protein Information
 
Protein Name
Big endothelin-1
 
Function
Endothelins are endothelium-derived vasoconstrictor peptides
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00322 Endothelin Endothelin family
 
KEGG
 
OMIM

Associated Diseases

Diseases References
Cardiovascular diseases 22703625, 18787386, 18462732, 17900581
Dyslipidemia 22703625
Endothelial dysfunction 22281885, 17418849, 15879361, 22703625
Hyperandrogenism 16968464, 11600523
Hyperinsulinism 11600523
   
References
 
Primary:

Altered endothelin expression in granulosa-lutein cells of women with polycystic ovary syndrome.

Imbar Tal, Klipper Eyal, Greenfield Caryn, Hurwitz Arye, Haimov-Kochman Ronit, Meidan Rina
IVF Unit, Department of Obstetrics & Gynecology, Hadassah Hebrew University Medical Center, Mt. Scopus, Jerusalem, Israel. talim@hadassah.org.il
Life Sci. 2012 Oct 15;91(13-14):703-9. doi: 10.1016/j.lfs.2012.06.006. Epub 2012
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
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) 
 
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 
C-reactive protein 
Cardiovascular risk factors 
 
 
Related 
 
ET-1 levels were higher in PCOS patients compared to controls 
CRP 
Cardiovascular risk 
 
 
Related 
 
ET1 was significantly higher in PCOS women compared to controls 
ADMA 
Endothelial dysfunction 
 
 
Related 
 
ET-1 and ADMA concentrations were higher in women with PCOS, and they were positively correlated with each other. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
24517721
The effects of metformin on endothelial dysfunction, lipid metabolism and oxidative stress in women with polycystic ovary syndrome. 
Effect of treatment 
24423322, PMC3942235
The inflammatory gene pathway is not a major contributor to polycystic ovary snydrome. 
In vitro 
23921139, PMC3798701
Androgens influence microvascular dilation in PCOS through ET-A and ET-B receptors. 
In vitro 
22713099, PMC3413550
Ethinylestradiol30??g-drospirenone and metformin: could this combination improve endothelial dysfunction in polycystic ovary syndrome? 
Effect of treatment 
22065820, PMC3205536
Ovarian hyperstimulation syndrome. 
Clinical study 

 

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