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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 (Endothelin 1) is a Protein Coding gene. Diseases associated with EDN1 include Question Mark Ears, Isolated and Auriculocondylar Syndrome 3. Among its related pathways are Prostaglandin Synthesis and Regulation and Physiological and Pathological Hypertrophy of the Heart. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and hormone activity. An important paralog of this gene is EDN2.
The endothelin family consists of highly potent vasoconstrictive peptides. Three endogenous isoforms are known to exist - ET-1, ET-2 and ET-3. Due to their physiological role as vasoactive peptides, endothelins have been linked to certain cardiac, vascular and renal diseases; endothelin antagonists may therefore play an important role in the treatment of these conditions. Two distinct endothelin receptors have so far been cloned in mammals, classified as ETA and ETB receptors.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IEA | -- |
GO:0005125 | cytokine activity | IDA | 19767294 |
GO:0005179 | hormone activity | IDA | 2649896 |
GO:0005515 | protein binding | IPI | 23597562 |
GO:0031707 | endothelin A receptor binding | IBA,IDA | 10770212 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA,IDA | 10770212 |
GO:0005737 | cytoplasm | IDA | 12379507 |
GO:0030133 | transport vesicle | TAS | -- |
GO:0033093 | Weibel-Palade body | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peptide ligand-binding receptors | ||
2 | Signaling by GPCR | ||
3 | RET signaling | ||
4 | Development Endothelin-1/EDNRA signaling |
Development Endothelin-1/EDNRA signaling
.41
|
Development Endothelin-1/EDNRA transactivation of EGFR
.41
|
5 | AGE-RAGE signaling pathway in diabetic complications |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 19767294 |
GO:0001501 | skeletal system development | IEA | -- |
GO:0001516 | prostaglandin biosynthetic process | IDA | 9492062 |
GO:0001569 | branching involved in blood vessel morphogenesis | IEA | -- |
GO:0001666 | response to hypoxia | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Nitric Oxide | Approved | Pharma | 796 | |||
Atenolol | Approved | Pharma | 116 | |||
Bevacizumab | Approved, Investigational | Pharma | VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors | 2478 | ||
Irbesartan | Approved, Investigational | Pharma | Angiotensin II inhibitor | 113 | ||
TBC-3711 | Investigational | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Endothelin 1 (human, porcine) |
|
117399-94-7 |
|
|
||
Endothelin 2 (human) |
|
123562-20-9 |
|
|
Compound | Action | Cas Number |
---|---|---|
Endothelin 1 (human, porcine) | Potent vasoconstrictor peptide | 117399-94-7 |
Endothelin 2 (human) | ETA/ETB agonist | 123562-20-9 |
Endothelin 3 (human, rat) | Potent vasoconstrictor | 117399-93-6 |
Sarafotoxin S6a | Endothelin receptor agonist | 126738-34-9 |
Sarafotoxin S6b | Endothelin receptor agonist; non-selective | 116303-65-2 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||
SP2: | - | ||||||||||||||
SP3: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EDN1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EDN1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EDN1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Edn1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Edn1 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EDN1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EDN1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EDN1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EDN1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | edn1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | edn1 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10478695 | Likely Benign: not provided | 12,290,701(+) |
C/T NM_001955.5(EDN1):c.64+8C>T |
INTRON | |
rs1064796796 | Uncertain Significance: not provided | 12,292,464(+) |
G/A NM_001955.5(EDN1):c.188G>A (p.Cys63Tyr) |
MISSENSE | |
rs145546137 | Benign: not provided | 12,294,351(+) |
A/C NM_001955.5(EDN1):c.480A>C (p.Leu160Phe) |
MISSENSE | |
rs147381256 | Likely Benign: not provided | 12,293,945(+) |
G/A NM_001955.5(EDN1):c.238G>A (p.Val80Ile) |
MISSENSE | |
rs148565651 | Benign: not provided | 12,292,417(+) |
C/T NM_001955.5(EDN1):c.141C>T (p.Leu47=) |
SYNONYMOUS |
Disorder | Aliases | PubMed IDs |
---|---|---|
question mark ears, isolated |
|
|
auriculocondylar syndrome 3 |
|
|
auriculo-condylar syndrome |
|
|
angina pectoris |
|
|
renal hypertension |
|
|