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 resul... See more...

Aliases for EDN1 Gene

Aliases for EDN1 Gene

  • Endothelin 1 2 3 5
  • Preproendothelin-1 3 4
  • Endothelin-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 Question Mark Ears, Isolated and Auriculocondylar Syndrome 3. Among its related pathways are Signaling by GPCR and MicroRNAs in cardiomyocyte hypertrophy. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and hormone activity. An important paralog of this gene is EDN2.

UniProtKB/Swiss-Prot Summary for EDN1 Gene

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

Additional gene information for EDN1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EDN1 Gene

Genomics for EDN1 Gene

GeneHancer (GH) Regulatory Elements for EDN1 Gene

Promoters and enhancers for EDN1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J012287 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500.3 +31.9 31944 12.3 HNRNPK CTCF SIN3A NRF1 TCF12 TEAD4 FOS REST POLR2A CLOCK EDN1 RN7SKP293 ENSG00000272379 piR-41306-224 lnc-ADTRP-7
GH06J012259 Enhancer 0.9 ENCODE dbSUPER 500.7 +0.6 613 4.5 ZSCAN5C KLF7 ATF2 OSR2 WT1 CREB1 IKZF3 IKZF1 ZNF843 PRDM6 EDN1 piR-57460-570
GH06J012362 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +106.1 106098 10.1 ZBTB40 TCF12 POLR2G TEAD4 EP300 TCF7 ZNF623 TRIM28 RELA MEF2C HIVEP1 EDN1 RN7SKP293 lnc-EDN1-4 HSALNG0048126
GH06J012232 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 13 -27.2 -27213 4.4 CTCF REST RAD21 TRIM22 SMC3 BCL11A TCF12 CBFB SPI1 EZH2 HIVEP1 EDN1 piR-43105-556 HSALNG0048114
GH06J012322 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +65.0 64987 7.6 ZNF217 TCF12 JUND POLR2A CLOCK TCF7 KLF4 RFX1 CUX1 CHD1 EDN1 RN7SKP293 lnc-EDN1-1 RF00017-5273
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EDN1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EDN1

Top Transcription factor binding sites by QIAGEN in the EDN1 gene promoter:
  • FOXI1
  • GATA-6
  • NF-kappaB
  • NF-kappaB1
  • Nkx2-5
  • p53

Genomic Locations for EDN1 Gene

Genomic Locations for EDN1 Gene
chr6:12,261,214-12,297,194
(GRCh38/hg38)
Size:
35,981 bases
Orientation:
Plus strand
chr6:12,290,529-12,297,427
(GRCh37/hg19)
Size:
6,899 bases
Orientation:
Plus strand

Genomic View for EDN1 Gene

Genes around EDN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EDN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P05305-EDN1_HUMAN
    Recommended name:
    Endothelin-1
    Protein Accession:
    P05305
    Secondary Accessions:
    • Q96DA1

    Protein attributes for EDN1 Gene

    Size:
    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

Post-translational modifications for EDN1 Gene

  • Glycosylation at Thr100
  • Modification sites at PhosphoSitePlus

Other Protein References for EDN1 Gene

Antibody Products

No data available for DME Specific Peptides for EDN1 Gene

Domains & Families for EDN1 Gene

Gene Families for EDN1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for EDN1 Gene

Blocks:
  • Endothelin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EDN1 Gene

GenScript: Design optimal peptide antigens:
  • Preproendothelin-1 (EDN1_HUMAN)
  • cDNA FLJ75736, highly similar to Homo sapiens endothelin 1 (EDN1), mRNA (Q6FH53_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P05305

UniProtKB/Swiss-Prot:

EDN1_HUMAN :
  • Belongs to the endothelin/sarafotoxin family.
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

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

LifeMap Function Summary for EDN1 Gene

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

Phenotypes From GWAS Catalog for EDN1 Gene

Gene Ontology (GO) - Molecular Function for EDN1 Gene

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 IDA 10770212
genes like me logo Genes that share ontologies with EDN1: view
genes like me logo Genes that share phenotypes with EDN1: view

Human Phenotype Ontology for EDN1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EDN1 Gene

MGI Knock Outs for EDN1:

Animal Model Products

miRNA for EDN1 Gene

miRTarBase miRNAs that target EDN1

Clone 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

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EDN1 gene
Compartment Confidence
extracellular 5
nucleus 4
endoplasmic reticulum 4
plasma membrane 3
cytoskeleton 3
mitochondrion 3
cytosol 3
golgi apparatus 3
peroxisome 2
endosome 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoli (1)
  • Nucleoplasm (1)
See all subcellular structures

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,IEA 10770212
GO:0005623 cell IEA --
GO:0005737 cytoplasm IDA 12379507
GO:0030133 transport vesicle TAS --
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

Pathways by source for EDN1 Gene

5 GeneGo (Thomson Reuters) pathways for EDN1 Gene
  • Development EDNRB signaling
  • Development Endothelin-1/EDNRA signaling
  • Development Endothelin-1/EDNRA transactivation of EGFR
  • Development_Leptin signaling via JAK/STAT and MAPK cascades
  • Immune response IL-1 signaling pathway
3 Qiagen pathways for EDN1 Gene
  • Endothelin-1 Signaling Pathway
  • HIF1Alpha Pathway
  • NFAT and Cardiac Hypertrophy

SIGNOR curated interactions for EDN1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for EDN1 Gene

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 --
genes like me logo Genes that share ontologies with EDN1: view

Drugs & Compounds for EDN1 Gene

(99) Drugs for EDN1 Gene - From: DrugBank, PharmGKB, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nitric Oxide Approved Pharma 740
Atenolol Approved Pharma Antagonist 112
Bevacizumab Approved, Investigational Pharma VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 2327
Irbesartan Approved, Investigational Pharma Antagonist Angiotensin II inhibitor 108
TBC-3711 Investigational Pharma Target 0

(49) Additional Compounds for EDN1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Endothelin 1 (human, porcine)
117399-94-7
Endothelin 2 (human)
123562-20-9

(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 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
genes like me logo Genes that share compounds with EDN1: view

Transcripts for EDN1 Gene

mRNA/cDNA for EDN1 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5
SP1: -
SP2: -
SP3:

Relevant External Links for EDN1 Gene

GeneLoc Exon Structure for
EDN1

Expression for EDN1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for EDN1 Gene



Protein tissue co-expression partners for EDN1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EDN1

SOURCE GeneReport for Unigene cluster for EDN1 Gene:

Hs.511899

mRNA Expression by UniProt/SwissProt for EDN1 Gene:

P05305-EDN1_HUMAN
Tissue specificity: Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth muscle cells.

Evidence on tissue expression from TISSUES for EDN1 Gene

  • Pancreas(4.3)
  • Heart(3.7)
  • Nervous system(3.7)
  • Muscle(3.6)
  • Blood(3.4)
  • Lung(3.4)
  • Kidney(3.2)
  • Liver(2.7)
  • Skin(2.6)
  • Adrenal gland(2.4)
  • Intestine(2.3)
  • Stomach(2.2)
  • Eye(2.1)
  • Urine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EDN1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • lung
  • trachea
General:
  • skin
genes like me logo Genes that share expression patterns with EDN1: view

Orthologs for EDN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EDN1 31 30
  • 98.26 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EDN1 31 30
  • 83.17 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EDN1 31 30
  • 83 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Edn1 30
  • 79.5 (n)
mouse
(Mus musculus)
Mammalia Edn1 17 31 30
  • 79.17 (n)
oppossum
(Monodelphis domestica)
Mammalia EDN1 31
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDN1 31
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDN1 31 30
  • 61.26 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EDN1 31
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia edn1 30
  • 55.05 (n)
zebrafish
(Danio rerio)
Actinopterygii edn1 31 30
  • 53.06 (n)
OneToOne
Species where no ortholog for EDN1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for EDN1 (if available)
TreeFam:
Gene Tree for EDN1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EDN1: view image

Paralogs for EDN1 Gene

Paralogs for EDN1 Gene

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

  • EDN1_HUMAN
  • Q6FH53_HUMAN
genes like me logo Genes that share paralogs with EDN1: view

Variants for EDN1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EDN1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
712585 Benign: not provided 12,292,417(+) C/T SYNONYMOUS_VARIANT
716454 Benign: not provided 12,292,366(+) G/A SYNONYMOUS_VARIANT
730189 Benign: not provided 12,292,382(+) G/A MISSENSE_VARIANT
748264 Benign: not provided 12,294,351(+) A/C MISSENSE_VARIANT
757570 Likely Benign: not provided 12,293,945(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for EDN1 Gene

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

Variant ID Type Subtype PubMed ID
nsv508394 CNV deletion 20534489
nsv509117 CNV insertion 20534489
nsv830586 CNV gain 17160897

Variation tolerance for EDN1 Gene

Residual Variation Intolerance Score: 63.4% 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)

Additional Variant Information for EDN1 Gene

Human Gene Mutation Database (HGMD)
EDN1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EDN1

SNP Genotyping and Copy Number Assay Products

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

Disorders for EDN1 Gene

MalaCards: The human disease database

(145) MalaCards diseases for EDN1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
question mark ears, isolated
  • qme
auriculocondylar syndrome 3
  • arcnd3
auriculo-condylar syndrome
  • auriculocondylar syndrome
angina pectoris
  • prinzmetal angina
renal hypertension
  • hypertension renal
- elite association - COSMIC cancer census association via MalaCards
Search EDN1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EDN1_HUMAN
  • 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.

Additional Disease Information for EDN1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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. Investigating the association between K198N coding polymorphism in EDN1 and hypertension, lipoprotein levels, the metabolic syndrome and cardiovascular disease. (PMID: 18288492) Wiltshire S … Beilby JP (Human genetics 2008) 3 4 41 54
  2. 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 (American journal of human genetics 2007) 3 4 41 54
  3. Evaluation of the Lys198Asn and -134delA genetic polymorphisms of the endothelin-1 gene. (PMID: 15198485) Tanaka C … Miyata T (Hypertension research : official journal of the Japanese Society of Hypertension 2004) 3 23 41 54
  4. Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. (PMID: 24268655) Gordon CT … Amiel J (American journal of human genetics 2013) 3 4 54
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54

Products for EDN1 Gene

Sources for EDN1 Gene