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EDN1 endothelin 1 [ Homo sapiens (human) ]

Gene ID: 1906, updated on 27-Sep-2014
Official Symbol
EDN1provided by HGNC
Official Full Name
endothelin 1provided by HGNC
Primary source
HGNC:HGNC:3176
See related
Ensembl:ENSG00000078401; HPRD:07030; MIM:131240; Vega:OTTHUMG00000014266
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ET1; QME; PPET1; ARCND3; HDLCQ7
Summary
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]
See EDN1 in Epigenomics, MapViewer
Location:
6p24.1
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (12290296..12297194)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (12290529..12297427)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928253 Neighboring gene human immunodeficiency virus type I enhancer binding protein 1 Neighboring gene uncharacterized LOC101928281 Neighboring gene uncharacterized LOC102724414 Neighboring gene ribosomal protein L15 pseudogene 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
AURICULOCONDYLAR SYNDROME 3
MedGen: CN185375 OMIM: 615706 GeneReviews: Not available
Compare labs
Question mark ears, isolated
MedGen: C2748545 OMIM: 612798 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 stimulates the secretion of endothelin-1, as well as TNF-alpha, from human cells in a concentration-dependent manner PubMed
Nef nef The activation of extracellular signal-regulated kinase (ERK) by endothelin-1 (ET-1) is inhibited by HIV-1 Nef in human astrocytes; a similar inhibitory action of Nef on ERK activation was observed after direct stimulation of G proteins PubMed
Tat tat HIV-1 Tat-linked intracellular third loop of the endothelin-1 type B receptor markedly enhances the endothelin-1 activation of ERK in the bone morphogenetic protein-2 receptor human pulmonary artery smooth muscle cells PubMed
tat In HIV-1 Tat-expressing and HIV-infected astrocytes, endothelin-1 (ET-1) is significantly elevated through NF-kappaB (NF-kappaB)-responsive sites in the ET-1 promoter PubMed
matrix gag HIV-1 MA-induced capillary-like structure formation is partially mediated by the ET-1/ETB receptor axis in human primary lymph node-derived lymphatic endothelial cells PubMed
gag Exposure of human primary lymph node-derived lymphatic endothelial cells with HIV-1 MA induces release of ET-1 PubMed
gag Treatment of human stellate cells with HIV-1 MA upregulates the expression of CXCR2, syndecan-2, collagen-I, alpha-SMA, vimentin, and endothelin-1 PubMed

Go to the HIV-1, Human Interaction Database

  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • EGFR-dependent Endothelin signaling events, organism-specific biosystem (from Pathway Interaction Database)
    EGFR-dependent Endothelin signaling events, organism-specific biosystem
    EGFR-dependent Endothelin signaling events
  • Endothelin, organism-specific biosystem (from WikiPathways)
    Endothelin, organism-specific biosystemEndothelin-1 is a bicyclic 21 amino acid peptide, produced primarily in the endothelium. It is a potent stimulus of long-lasting and persistent vasoconstriction. It also has a role as a stimulus of i...
  • Endothelins, organism-specific biosystem (from Pathway Interaction Database)
    Endothelins, organism-specific biosystem
    Endothelins
  • G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • HIF-1 signaling pathway, organism-specific biosystem (from KEGG)
    HIF-1 signaling pathway, organism-specific biosystemHypoxia-inducible factor 1 (HIF-1) is a transcription factor that functions as a master regulator of oxygen homeostasis. It consists of two subunits: an inducibly-expressed HIF-1alpha subunit and a c...
  • HIF-1-alpha transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
    HIF-1-alpha transcription factor network, organism-specific biosystem
    HIF-1-alpha transcription factor network
  • Melanogenesis, organism-specific biosystem (from KEGG)
    Melanogenesis, organism-specific biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
  • Melanogenesis, conserved biosystem (from KEGG)
    Melanogenesis, conserved biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
  • MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystem (from WikiPathways)
    MicroRNAs in cardiomyocyte hypertrophy, organism-specific biosystemThis pathway shows the role of microRNAs in the process of cardiac hypertrophy. MicroRNA targets were predicted by the TargetScan algorithm, and the predicted interactions are shown in red dashed lin...
  • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
  • Physiological and Pathological Hypertrophy of the Heart, organism-specific biosystem (from WikiPathways)
    Physiological and Pathological Hypertrophy of the Heart, organism-specific biosystemPathways in physiological and pathological hypertrophy of the heart. Largely based on the article from Wang Y; ''Signal transduction in cardiac hypertrophy--dissecting compensatory versus pathologica...
  • Prostaglandin Synthesis and Regulation, organism-specific biosystem (from WikiPathways)
    Prostaglandin Synthesis and Regulation, organism-specific biosystem
    Prostaglandin Synthesis and Regulation
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • TNF signaling pathway, organism-specific biosystem (from KEGG)
    TNF signaling pathway, organism-specific biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
  • TNF signaling pathway, conserved biosystem (from KEGG)
    TNF signaling pathway, conserved biosystemTumor necrosis factor (TNF), as a critical cytokine, can induce a wide range of intracellular signal pathways including apoptosis and cell survival as well as inflammation and immunity. Activated TNF...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IDA
Inferred from Direct Assay
more info
PubMed 
endothelin A receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
endothelin B receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
hormone activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
G-protein coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
artery smooth muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
artery smooth muscle contraction TAS
Traceable Author Statement
more info
PubMed 
body fluid secretion IEA
Inferred from Electronic Annotation
more info
 
calcium-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
cartilage development IEA
Inferred from Electronic Annotation
more info
 
cell growth IEA
Inferred from Electronic Annotation
more info
 
cell surface receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell signaling IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to interleukin-1 IEA
Inferred from Electronic Annotation
more info
 
cellular response to tumor necrosis factor IEA
Inferred from Electronic Annotation
more info
 
dorsal/ventral pattern formation IEA
Inferred from Electronic Annotation
more info
 
epithelial fluid transport IEA
Inferred from Electronic Annotation
more info
 
glucose transport IEA
Inferred from Electronic Annotation
more info
 
heart development IEA
Inferred from Electronic Annotation
more info
 
histamine secretion IEA
Inferred from Electronic Annotation
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
inositol phosphate-mediated signaling IDA
Inferred from Direct Assay
more info
PubMed 
leukocyte activation TAS
Traceable Author Statement
more info
PubMed 
maternal process involved in parturition IEA
Inferred from Electronic Annotation
more info
 
membrane depolarization IEA
Inferred from Electronic Annotation
more info
 
middle ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
multicellular organismal aging IEA
Inferred from Electronic Annotation
more info
 
negative regulation of blood coagulation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of cAMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cellular protein metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of hormone secretion IEA
Inferred from Electronic Annotation
more info
 
negative regulation of nitric-oxide synthase biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of smooth muscle cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
neural crest cell development IEA
Inferred from Electronic Annotation
more info
 
NOT neutrophil chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
nitric oxide transport IDA
Inferred from Direct Assay
more info
PubMed 
patterning of blood vessels IEA
Inferred from Electronic Annotation
more info
 
peptide hormone secretion IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol 3-kinase signaling IDA
Inferred from Direct Assay
more info
PubMed 
phospholipase D-activating G-protein coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of JUN kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of MAP kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cardiac muscle hypertrophy IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell size IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of chemokine-mediated signaling pathway IC
Inferred by Curator
more info
PubMed 
positive regulation of cytosolic calcium ion concentration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of endothelial cell migration TAS
Traceable Author Statement
more info
PubMed 
positive regulation of heart rate IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of hormone secretion IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of mitosis IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of neutrophil chemotaxis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of nitric oxide biosynthetic process TAS
Traceable Author Statement
more info
PubMed 
positive regulation of odontogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of prostaglandin-endoperoxide synthase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of receptor biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of renal sodium excretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of sarcomere organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of smooth muscle cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of urine volume IEA
Inferred from Electronic Annotation
more info
 
prostaglandin biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase C deactivation IDA
Inferred from Direct Assay
more info
PubMed 
protein kinase C-activating G-protein coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
regulation of pH IEA
Inferred from Electronic Annotation
more info
 
regulation of sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
regulation of systemic arterial blood pressure by endothelin IDA
Inferred from Direct Assay
more info
PubMed 
regulation of vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
respiratory gaseous exchange IEA
Inferred from Electronic Annotation
more info
 
response to amino acid IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to nicotine IEA
Inferred from Electronic Annotation
more info
 
response to testosterone IEA
Inferred from Electronic Annotation
more info
 
rhythmic excitation IEA
Inferred from Electronic Annotation
more info
 
sensory perception of pain IEA
Inferred from Electronic Annotation
more info
 
superoxide anion generation IEA
Inferred from Electronic Annotation
more info
 
vasoconstriction IDA
Inferred from Direct Assay
more info
PubMed 
vein smooth muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
endothelin-1
Names
endothelin-1
preproendothelin-1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016196.1 

    Range
    5001..11899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001168319.1NP_001161791.1  endothelin-1 isoform 2 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site at the 5' end of an exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
    Source sequence(s)
    AL548191, AW044634, BQ009676, BX439515, S56805, Z98050
    UniProtKB/Swiss-Prot
    P05305
    Conserved Domains (3) summary
    pfam00322
    Location:4777
    Endothelin; Endothelin family
    PHA02659
    Location:472
    PHA02659; endothelin precursor; Provisional
    smart00272
    Location:107128
    END; Endothelin
  2. NM_001955.4NP_001946.3  endothelin-1 isoform 1 preproprotein

    See proteins identical to NP_001946.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL548191, AW044634, BQ009676, S56805, Z98050
    Consensus CDS
    CCDS4522.1
    UniProtKB/Swiss-Prot
    P05305
    UniProtKB/TrEMBL
    Q6FH53
    Related
    ENSP00000368683, OTTHUMP00000016038, ENST00000379375, OTTHUMT00000039872
    Conserved Domains (2) summary
    pfam00322
    Location:4878
    Endothelin; Endothelin family
    smart00272
    Location:108129
    END; Endothelin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    12290296..12297194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    12222160..12229052
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    12292671..12299570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)