Gene Gene information from NCBI Gene database.
Entrez ID 1906
Gene name Endothelin 1
Gene symbol EDN1
Synonyms (NCBI Gene)
ARCND3ET1HDLCQ7PPET1QME
Chromosome 6
Chromosome location 6p24.1
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 treatme
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs587777231 A>G Pathogenic Missense variant, coding sequence variant
rs587777232 C>A Pathogenic Missense variant, coding sequence variant
rs587777233 T>A Pathogenic Missense variant, coding sequence variant
rs587777234 T>G Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
387
miRTarBase ID miRNA Experiments Reference
MIRT004455 hsa-miR-155-5p Luciferase reporter assay 19783678
MIRT005432 hsa-miR-199a-5p Luciferase reporter assay 19783678
MIRT006855 hsa-miR-1-3p Luciferase reporter assay 22963810
MIRT006855 hsa-miR-1-3p Luciferase reporter assay 22963810
MIRT022267 hsa-miR-124-3p Microarray 18668037
Transcription factors Transcription factors information provided by TRRUST V2 database.
7
Transcription factor Regulation Reference
FOXO1 Unknown 19887561
HIF1A Activation 19783678
JUN Unknown 12208352
NFKB1 Unknown 21334436
NR1H4 Repression 16357303
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
183
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 19767294
GO:0000165 Process MAPK cascade IEA
GO:0001501 Process Skeletal system development IEA
GO:0001569 Process Branching involved in blood vessel morphogenesis IEA
GO:0001666 Process Response to hypoxia IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
131240 3176 ENSG00000078401
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05305
Protein name Endothelin-1 (Preproendothelin-1) (PPET1) [Cleaved into: Endothelin-1 (ET-1); Big endothelin-1]
Protein function Endothelins are endothelium-derived vasoconstrictor peptides (By similarity). Probable ligand for G-protein coupled receptors EDNRA and EDNRB which activates PTK2B, BCAR1, BCAR3 and, GTPases RAP1 and RHOA cascade in glomerular mesangial cells (P
PDB 1EDN , 1EDP , 1T7H , 1V6R , 5GLH , 6DK5 , 8HCQ , 8HCX , 8IY5 , 8IY6 , 8XGR , 8XVE , 8XVH , 8XVI , 8XWP , 8XWQ , 8ZRT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00322 Endothelin 49 77 Endothelin family Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells. {ECO:0000269|PubMed:9284755}.
Sequence
MDYLLMIFSLLFVACQGAPETAVLGAELSAVGENGGEKPTPSPPWRLRRSKRCSCSSLMD
KECVYFCHLDIIWVNTP
EHVVPYGLGSPRSKRALENLLPTKATDRENRCQCASQKDKKCW
NFCQAGKELRAEDIMEKDWNNHKKGKDCSKLGKKCIYQQLVRGRKIRRSSEEHLRQTRSE
TMRNSVKSSFHDPKLKGKPSRERYVTHNRAHW
Sequence length 212
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Fluid shear stress and atherosclerosis
  Peptide ligand-binding receptors
G alpha (q) signalling events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
13
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Auriculocondylar syndrome 3 Pathogenic rs587777231, rs587777232 RCV000106312
RCV000106313
Question mark ears, isolated Pathogenic rs587777233, rs587777234 RCV000106314
RCV000106315
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
EDN1-related disorder Likely benign; Benign rs755064642, rs150035515, rs148565651 RCV003967272
RCV003914312
RCV003930623
High density lipoprotein cholesterol level quantitative trait locus 7 Benign rs5370 RCV000018132
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Ablepharon macrostomia syndrome Associate 35468098
Acute Chest Syndrome Associate 28548215
Acute Coronary Syndrome Associate 26573609
Acute Lung Injury Stimulate 26071554
Adenocarcinoma of Lung Associate 31698633
Adenoma Associate 26313302
AIDS Dementia Complex Associate 17197385
Airway Obstruction Associate 17470272
Alopecia Associate 37749230
Altitude Sickness Associate 21217075, 32214168