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Aliases for EDN1 Gene

Aliases for EDN1 Gene

  • Endothelin 1 2 3 5
  • 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 Question Mark Ears, Isolated and Auriculocondylar Syndrome 3. Among its related pathways are Peptide ligand-binding receptors and TNF signaling pathway. GO annotations related to this gene include receptor binding and hormone activity. An important paralog of this gene is EDN3.

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

Enhancers for EDN1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EDN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EDN1 Gene

Chromosome:
6
Start:
12,261,214 bp from pter
End:
12,297,194 bp from pter
Size:
35,981 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

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

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

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
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for EDN1 Gene COMPARTMENTS Subcellular localization image for EDN1 gene
Compartment Confidence
cytosol 5
extracellular 5
endoplasmic reticulum 3
nucleus 3
cytoskeleton 2
golgi apparatus 2
mitochondrion 2
plasma membrane 2
lysosome 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for EDN1 Gene

Pathways & Interactions for EDN1 Gene

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

SIGNOR curated interactions for EDN1 Gene

Activates:

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:0001516 prostaglandin biosynthetic process IDA 9492062
GO:0001666 response to hypoxia IEA --
GO:0001701 in utero embryonic development IEA --
GO:0001821 histamine secretion IEA --
genes like me logo Genes that share ontologies with EDN1: view

Drugs & Compounds for EDN1 Gene

(87) 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 576
Atenolol Approved Pharma Antagonist 99
Irbesartan Approved, Investigational Pharma Antagonist Angiotensin II inhibitor 99
TBC-3711 Investigational Pharma Target 0
muraglitazar Pharma 0

(60) 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)
122879-69-0
Endothelin 3 (human, rat)
117399-93-6
Sarafotoxin S6a
126738-34-9

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

Transcripts for EDN1 Gene

mRNA/cDNA for EDN1 Gene

Unigene Clusters for EDN1 Gene

Endothelin 1:
Representative Sequences:

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
ECgene alternative splicing isoforms for
EDN1

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

P05305-EDN1_HUMAN
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

Orthologs for EDN1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EDN1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EDN1 35
  • 83 (n)
  • 74 (a)
EDN1 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EDN1 35
  • 83.17 (n)
  • 74 (a)
EDN1 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Edn1 35
  • 79.17 (n)
  • 73.5 (a)
Edn1 16
Edn1 36
  • 73 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EDN1 35
  • 98.26 (n)
  • 96.21 (a)
EDN1 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Edn1 35
  • 79.5 (n)
  • 72 (a)
oppossum
(Monodelphis domestica)
Mammalia EDN1 36
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EDN1 36
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves EDN1 35
  • 61.26 (n)
  • 49.21 (a)
EDN1 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EDN1 36
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia edn1 35
  • 55.05 (n)
  • 47.98 (a)
zebrafish
(Danio rerio)
Actinopterygii edn1 35
  • 53.06 (n)
  • 46.94 (a)
edn1 36
  • 32 (a)
OneToOne
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

ENSEMBL:
Gene Tree for EDN1 (if available)
TreeFam:
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
rs5370 - 12,296,022(+) GGCAA(G/T)CCCTC reference, missense
rs6413478 - 12,295,984(+) ACAGC(A/G)TCAAA reference, missense
VAR_071152 Question mark ears, isolated (QME)
VAR_071153 Auriculocondylar syndrome 3 (ARCND3)
VAR_071154 Auriculocondylar syndrome 3 (ARCND3)

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: 63.4% 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)

Relevant External Links for EDN1 Gene

Human Gene Mutation Database (HGMD)
EDN1

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

Disorders for EDN1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
question mark ears, isolated
  • congenital auricular cleft
auriculocondylar syndrome 3
  • arcnd3
auriculo-condylar syndrome
  • auriculocondylar syndrome
pulmonary hypertension
  • primary pulmonary hypertension
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
  • 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)
EDN1
Human Genome Epidemiology (HuGE) Navigator
EDN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EDN1
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 J.P. (Hum. Genet. 2008) 3 4 48 67
  2. Green tea polyphenol epigallocatechin gallate reduces endothelin-1 expression and secretion in vascular endothelial cells: roles for AMP-activated protein kinase, Akt, and FOXO1. (PMID: 19887561) Reiter C.E. … Quon M.J. (Endocrinology 2010) 3 23
  3. The impact of the endothelin type A receptor on regional endothelin-1 turnover, in particular renal endothelin-1 release, in humans. (PMID: 20150570) Rullman E. … Ahlborg G. (J. Appl. Physiol. 2010) 3 23
  4. Endothelin-1 and F2-isoprostane relate to and predict renal dysfunction in hypertensive patients. (PMID: 18772174) Cottone S. … Cerasola G. (Nephrol. Dial. Transplant. 2009) 3 23
  5. Role of protein kinase C in the expression of endothelin converting enzyme-1. (PMID: 18974277) Khamaisi M. … Raz I. (Endocrinology 2009) 3 23

Products for EDN1 Gene

Sources for EDN1 Gene

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