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Aliases for EDN1 Gene

Aliases for EDN1 Gene

  • Endothelin 1 2 3
  • Preproendothelin-1 3 4
  • ARCND3 3 6
  • HDLCQ7 3 6
  • PPET1 3 4
  • QME 3 6
  • Endothelin-1 3
  • ET1 3

External Ids for EDN1 Gene

Previous GeneCards Identifiers for EDN1 Gene

  • GC06P012348
  • GC06P012398

Summaries for EDN1 Gene

Entrez Gene Summary for EDN1 Gene

  • 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 Summary for EDN1 Gene

EDN1 (Endothelin 1) is a Protein Coding gene. Diseases associated with EDN1 include auriculocondylar syndrome 3 and question mark ears, isolated. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include cytokine activity and endothelin A receptor binding. An important paralog of this gene is EDN2.

UniProtKB/Swiss-Prot for EDN1 Gene

  • Endothelins are endothelium-derived vasoconstrictor peptides

Tocris Summary for EDN1 Gene

  • The endothelin family consists of highly potent vasoconstrictive peptides. Three endogenous isoforms are known to exist, ET-1, ET-2 and ET-3, and two distinct endothelin receptors have so far been cloned in mammals, classified as ETA and ETB receptors. Endothelin receptors are widely expressed in all tissues, which is consistent with their physiological role as vasoactive peptides. They are also localized to non-vascular structures including epithelial cells, glia and neurons. The principle physiological role of endothelin receptors is the maintenance of vascular tone. They also have co-mitogenic activity, potentiating the effects of other growth factors such as PDGF.

Gene Wiki entry for EDN1 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EDN1 Gene

Genomics for EDN1 Gene

Regulatory Elements for EDN1 Gene

Genomic Location for EDN1 Gene

12,290,296 bp from pter
12,297,194 bp from pter
6,899 bases
Plus strand

Genomic View for EDN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EDN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EDN1 Gene

Proteins for EDN1 Gene

  • Protein details for EDN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q96DA1

    Protein attributes for EDN1 Gene

    212 amino acids
    Molecular mass:
    24425 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for EDN1 Gene

neXtProt entry for EDN1 Gene

Proteomics data for EDN1 Gene at MOPED

Post-translational modifications for EDN1 Gene

  • Glycosylation at Thr100
  • Modification sites at PhosphoSitePlus

Other Protein References for EDN1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for EDN1 Gene

Domains for EDN1 Gene

Gene Families for EDN1 Gene

Protein Domains for EDN1 Gene

Suggested Antigen Peptide Sequences for EDN1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the endothelin/sarafotoxin family.
  • Belongs to the endothelin/sarafotoxin family.
genes like me logo Genes that share domains with EDN1: view

Function for EDN1 Gene

Molecular function for EDN1 Gene

GENATLAS Biochemistry:
endothelin 1 (vaso-constrictor/pressor peptide),phospholipase C activator,interacting with I16 for induced expression of fetal genes in cardiac myocytes
UniProtKB/Swiss-Prot Function:
Endothelins are endothelium-derived vasoconstrictor peptides

LifeMap Function Summary for EDN1 Gene

During embryonic development, EDN1 as signaling molecule is secreted from the following cells

Gene Ontology (GO) - Molecular Function for EDN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding --
GO:0005125 cytokine activity IDA 19767294
GO:0005179 hormone activity IDA 10770212
GO:0005515 protein binding IPI 23597562
GO:0031707 endothelin A receptor binding IDA 10770212
genes like me logo Genes that share ontologies with EDN1: view
genes like me logo Genes that share phenotypes with EDN1: view

Animal Models for EDN1 Gene

MGI Knock Outs for EDN1:

Animal Model Products

miRNA for EDN1 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EDN1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for EDN1 Gene

Localization for EDN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EDN1 Gene


Subcellular locations from

Jensen Localization Image for EDN1 Gene COMPARTMENTS Subcellular localization image for EDN1 gene
Compartment Confidence
extracellular 5
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
mitochondrion 2
nucleus 2
plasma membrane 2
golgi apparatus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EDN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 10770212
GO:0005737 cytoplasm IDA 12379507
GO:0033093 Weibel-Palade body IEA --
GO:0045178 basal part of cell IEA --
genes like me logo Genes that share ontologies with EDN1: view

Pathways for EDN1 Gene

genes like me logo Genes that share pathways with EDN1: view

PCR Array Products

Gene Ontology (GO) - Biological Process for EDN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 19767294
GO:0001501 skeletal system development --
GO:0001516 prostaglandin biosynthetic process IDA 9492062
GO:0001569 patterning of blood vessels IEA --
GO:0001666 response to hypoxia --
genes like me logo Genes that share ontologies with EDN1: view

Compounds for EDN1 Gene

(1) Drugbank Compounds for EDN1 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
Target investigational

(5) Tocris Compounds for EDN1 Gene

Compound Action Cas Number
Endothelin 1 (human, porcine) Potent vasoconstrictor peptide [117399-94-7]
Endothelin 2 (human) ETA/ETB agonist [122879-69-0]
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]

(1) HMDB Compounds for EDN1 Gene

Compound Synonyms Cas Number PubMed IDs
Nitric oxide
  • Mononitrogen monoxide

(138) Novoseek inferred chemical compound relationships for EDN1 Gene

Compound -log(P) Hits PubMed IDs
bq123 91.8 103
sarafotoxin 91.3 144
bq788 89.3 62
bosentan 86.4 84
phosphoramidon 85 156

(3) PharmGKB related drug/compound annotations for EDN1 Gene

Drug/compound Annotation
atenolol CA
irbesartan CA
muraglitazar CA
genes like me logo Genes that share compounds with EDN1: view

Transcripts for EDN1 Gene

Unigene Clusters for EDN1 Gene

Endothelin 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EDN1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EDN1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5
SP1: -
SP2: -

Relevant External Links for EDN1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EDN1 Gene

mRNA expression in normal human tissues for EDN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EDN1 Gene

This gene is overexpressed in Adipose - Subcutaneous (4.1).

Protein differential expression in normal tissues for EDN1 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for EDN1 Gene

SOURCE GeneReport for Unigene cluster for EDN1 Gene Hs.511899

mRNA Expression by UniProt/SwissProt for EDN1 Gene

Tissue specificity: Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells.
genes like me logo Genes that share expressions with EDN1: view

Expression partners for EDN1 Gene

* - Elite partner

Primer Products

In Situ Assay Products

Orthologs for EDN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDN1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia EDN1 35
  • 83 (n)
  • 74 (a)
EDN1 36
  • 74 (a)
(Canis familiaris)
Mammalia EDN1 35
  • 83.17 (n)
  • 74 (a)
EDN1 36
  • 74 (a)
(Mus musculus)
Mammalia Edn1 35
  • 79.17 (n)
  • 73.5 (a)
Edn1 16
Edn1 36
  • 73 (a)
(Pan troglodytes)
Mammalia EDN1 35
  • 98.26 (n)
  • 96.21 (a)
EDN1 36
  • 96 (a)
(Rattus norvegicus)
Mammalia Edn1 35
  • 79.5 (n)
  • 72 (a)
(Monodelphis domestica)
Mammalia EDN1 36
  • 59 (a)
(Ornithorhynchus anatinus)
Mammalia EDN1 36
  • 53 (a)
(Gallus gallus)
Aves EDN1 35
  • 61.26 (n)
  • 49.21 (a)
EDN1 36
  • 45 (a)
(Anolis carolinensis)
Reptilia EDN1 36
  • 45 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia edn1 35
  • 55.05 (n)
  • 47.98 (a)
(Danio rerio)
Actinopterygii edn1 35
  • 53.06 (n)
  • 46.94 (a)
edn1 36
  • 32 (a)
Species with no ortholog for EDN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EDN1 Gene

Gene Tree for EDN1 (if available)
Gene Tree for EDN1 (if available)

Paralogs for EDN1 Gene

Paralogs for EDN1 Gene

(1) SIMAP similar genes for EDN1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with EDN1: view

Variants for EDN1 Gene

Sequence variations from dbSNP and Humsavar for EDN1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs5369 -- 12,294,025(+) CGTGA(A/G)AATAG reference, synonymous-codon
rs1016856 -- 12,293,459(+) TGGGG(C/T)CGGTG intron-variant
rs1476046 -- 12,292,988(+) TGCAG(A/G)AGTGA intron-variant
rs1794849 -- 12,294,629(+) TGTAC(C/T)TTTAG intron-variant
rs1800541 -- 12,288,986(+) GCGCT(G/T)TGGTG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for EDN1 Gene

Variant ID Type Subtype PubMed ID
nsv830586 CNV Gain 17160897
nsv508394 CNV Loss 20534489
nsv509117 CNV Insertion 20534489

Relevant External Links for EDN1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EDN1 Gene

Disorders for EDN1 Gene

(2) OMIM Diseases for EDN1 Gene (131240)


  • Question mark ears, isolated (QME) [MIM:612798]: An auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. {ECO:0000269 PubMed:24268655}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Auriculocondylar syndrome 3 (ARCND3) [MIM:615706]: A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. {ECO:0000269 PubMed:24268655}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(97) Novoseek inferred disease relationships for EDN1 Gene

Disease -log(P) Hits PubMed IDs
hypertension pulmonary 79 183
vasospasm 72.6 76
hypertension arterial 68.8 52
atherosclerosis 66.7 146
essential hypertension 66.7 115

Relevant External Links for EDN1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with EDN1: view

No data available for Genatlas for EDN1 Gene

Publications for EDN1 Gene

  1. Genetic analysis of 103 candidate genes for coronary artery disease and associated phenotypes in a founder population reveals a new association between endothelin-1 and high-density lipoprotein cholesterol. (PMID: 17357073) Pare G. … Gaudet D. (Am. J. Hum. Genet. 2007) 3 4 23 48
  2. Investigating the association between K198N coding polymorphism in EDN1 and hypertension, lipoprotein levels, the metabolic syndrome and cardiovascular disease. (PMID: 18288492) Wiltshire S. … Beilby J.P. (Hum. Genet. 2008) 3 4 23 48
  3. Association of single nucleotide polymorphisms in endothelin family genes with the progression of atherosclerosis in patients with essential hypertension. (PMID: 17525706) Yasuda H. … Kawano Y. (J Hum Hypertens 2007) 3 23 48
  4. Polymorphisms in the endothelin-1 (EDN1) are associated with asthma in two populations. (PMID: 17960156) Zhu G. … Pillai S.G. (Genes Immun. 2008) 3 23 48
  5. ETB receptor polymorphism is associated with airway obstruction. (PMID: 17470272) TaillAc C. … Crestani B. (BMC Pulm Med 2007) 3 23 48

Products for EDN1 Gene

Sources for EDN1 Gene

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