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Aliases for EDN1 Gene

Aliases for EDN1 Gene

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

External Ids for EDN1 Gene

Previous GeneCards Identifiers for EDN1 Gene

  • GC06P012348
  • GC06P012398

Summaries for EDN1 Gene

Entrez Gene Summary for EDN1 Gene

  • 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]

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 Interleukin receptor SHC signaling. GO annotations related to this gene include receptor binding and hormone activity. 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. 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.

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

12,261,214 bp from pter
12,297,194 bp from pter
35,981 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 Thr 100
  • Modification sites at PhosphoSitePlus

Other Protein References for EDN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for EDN1 Gene

Domains & Families 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 2649896
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

miRTarBase miRNAs that target EDN1

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 Targets 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
cytosol 4
cytoskeleton 2
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 2
nucleus 2
plasma membrane 2
lysosome 1
vacuole 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:0005829 cytosol IEA --
GO:0033093 Weibel-Palade body IEA --
genes like me logo Genes that share ontologies with EDN1: view

Pathways & Interactions for EDN1 Gene

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

PCR Array Products

SIGNOR curated interactions for EDN1 Gene


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

Drugs & Compounds for EDN1 Gene

(87) Drugs for EDN1 Gene - From: NovoSeek, HMDB, Tocris, PharmGKB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nitric Oxide Approved Pharma 540
Atenolol Approved Pharma Antagonist 98
Irbesartan Approved, Investigational Pharma Antagonist Angiotensin II inhibitor 95
Atorvastatin Approved Pharma Competitive, Inhibitor 690
Bosentan Approved, Investigational Pharma 99

(60) Additional Compounds for EDN1 Gene - From: NovoSeek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Endothelin 1 (human, porcine)
Endothelin 2 (human)
Endothelin 3 (human, rat)
Sarafotoxin S6a
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 (x4.1).

Protein differential expression in normal tissues from HIPED for EDN1 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with EDN1: view

Protein tissue co-expression partners for EDN1 Gene

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
rs5370 other, other, other, - 12,296,022(+) GGCAA(G/T)CCCTC reference, missense
rs220014 -- 12,266,501(+) AGTCC(C/T)TCTTC intron-variant
rs220015 -- 12,268,359(+) gttgc(A/C)tatgc intron-variant
rs220016 -- 12,269,140(+) tttat(A/T)gtttt intron-variant

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

Variation tolerance for EDN1 Gene

Residual Variation Intolerance Score: 63.36% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.42; 71.31% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(80) MalaCards diseases for EDN1 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
auriculocondylar syndrome 3
  • arcnd3
question mark ears, isolated
  • congenital auricular cleft
renal hypertension
  • hypertension renal
chronic pulmonary heart disease
persistent fetal circulation syndrome
  • persistent pulmonary hypertension of the newborn
- elite association
Search EDN1 in MalaCards View complete list of genes associated with diseases


  • 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.
  • 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.

Relevant External Links for EDN1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with EDN1: view

No data available for Genatlas for EDN1 Gene

Publications for EDN1 Gene

  1. Intrarenal artery superoxide is mainly NADPH oxidase-derived and modulates endothelium-dependent dilation in elderly patients. (PMID: 19843513) SchlA1ter T. … Grisk O. (Cardiovasc. Res. 2010) 23 67
  2. Intradialytic hypertension: a less-recognized cardiovascular complication of hemodialysis. (PMID: 19853337) Inrig J.K. (Am. J. Kidney Dis. 2010) 23 67
  3. Pleiotropic effects of YC-1 selectively inhibit pathological retinal neovascularization and promote physiological revascularization in a mouse model of oxygen-induced retinopathy. (PMID: 20008515) DeNiro M. … Al-Mohanna F.A. (Mol. Pharmacol. 2010) 23 67
  4. Cholesterol depletion alters coronary artery myocyte Ca(2+) signalling in a stimulus-specific manner. (PMID: 20022108) Prendergast C. … Wray S. (Cell Calcium 2010) 23 67
  5. Proteomics analysis of the cardiac myofilament subproteome reveals dynamic alterations in phosphatase subunit distribution. (PMID: 20037178) Yin X. … Mayr M. (Mol. Cell Proteomics 2010) 23 67

Products for EDN1 Gene

Sources for EDN1 Gene

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