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EDN1 endothelin 1 [ Homo sapiens (human) ]

Gene ID: 1906, updated on 24-Nov-2020

Summary

Official Symbol
EDN1provided by HGNC
Official Full Name
endothelin 1provided by HGNC
Primary source
HGNC:HGNC:3176
See related
Ensembl:ENSG00000078401 MIM:131240
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
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]
Expression
Broad expression in lung (RPKM 13.6), fat (RPKM 10.9) and 23 other tissues See more
Orthologs

Genomic context

See EDN1 in Genome Data Viewer
Location:
6p24.1
Exon count:
9
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (12256463..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 HIVEP zinc finger 1 Neighboring gene SUMO2 pseudogene 12 Neighboring gene uncharacterized LOC105374931 Neighboring gene RN7SK pseudogene 293

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Auriculocondylar syndrome 3
MedGen: C3810332 OMIM: 615706 GeneReviews: Not available
Compare labs
Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1.
GeneReviews: Not available
Question mark ears, isolated
MedGen: C2748545 OMIM: 612798 GeneReviews: Not available
Compare labs

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endothelin A receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
endothelin B receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endothelin B receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
endothelin B receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
hormone activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hormone activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
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
 
branching involved in blood vessel morphogenesis 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 surface receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell signaling IDA
Inferred from Direct Assay
more info
PubMed 
cellular calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to calcium ion IEA
Inferred from Electronic Annotation
more info
 
cellular response to drug IEA
Inferred from Electronic Annotation
more info
 
cellular response to fatty acid IEA
Inferred from Electronic Annotation
more info
 
cellular response to glucocorticoid stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
cellular response to interferon-gamma IEA
Inferred from Electronic Annotation
more info
 
cellular response to interleukin-1 IEA
Inferred from Electronic Annotation
more info
 
cellular response to mineralocorticoid stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to peptide hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to transforming growth factor beta stimulus 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
 
endothelin receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial fluid 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 organism aging IEA
Inferred from Electronic Annotation
more info
 
negative regulation of blood coagulation TAS
Traceable Author Statement
more info
PubMed 
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 by RNA polymerase II 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 
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 DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
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 NIK/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cardiac muscle hypertrophy IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell growth involved in cardiac muscle cell development IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell growth involved in cardiac muscle cell development IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of cell migration IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell population 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 mitotic nuclear division 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 secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of prostaglandin-endoperoxide synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of prostaglandin-endoperoxide synthase activity IMP
Inferred from Mutant Phenotype
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 transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of urine volume IEA
Inferred from Electronic Annotation
more info
 
positive regulation of vascular associated smooth muscle cell proliferation 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 glucose transmembrane transport 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 by respiratory system IEA
Inferred from Electronic Annotation
more info
 
response to activity IEA
Inferred from Electronic Annotation
more info
 
response to amino acid IEA
Inferred from Electronic Annotation
more info
 
response to dexamethasone IEA
Inferred from Electronic Annotation
more info
 
response to leptin IEA
Inferred from Electronic Annotation
more info
 
response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
response to muscle stretch IEA
Inferred from Electronic Annotation
more info
 
response to nicotine IEA
Inferred from Electronic Annotation
more info
 
response to ozone IEA
Inferred from Electronic Annotation
more info
 
response to prostaglandin F IEA
Inferred from Electronic Annotation
more info
 
response to salt 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vein smooth muscle contraction IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Weibel-Palade body IEA
Inferred from Electronic Annotation
more info
 
basal part of cell IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
rough endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
transport vesicle TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
endothelin-1
Names
preproendothelin-1

NCBI Reference Sequences (RefSeq)

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 RefSeqGene

    Range
    5066..11899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_001161791.1

    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
    PHA02659
    Location:472
    PHA02659; endothelin precursor; Provisional
    smart00272
    Location:107128
    END; Endothelin
    pfam00322
    Location:4876
    Endothelin; Endothelin family
  2. NM_001955.5NP_001946.3  endothelin-1 isoform 1 preproprotein

    See identical proteins and their annotated locations for 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
    ENSP00000368683.5, ENST00000379375.6
    Conserved Domains (2) summary
    smart00272
    Location:108129
    END; Endothelin
    pfam00322
    Location:4977
    Endothelin; Endothelin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    12256463..12297194
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514331.3XP_011512633.1  endothelin-1 isoform X1

    See identical proteins and their annotated locations for XP_011512633.1

    UniProtKB/Swiss-Prot
    P05305
    UniProtKB/TrEMBL
    Q6FH53
    Conserved Domains (2) summary
    smart00272
    Location:108129
    END; Endothelin
    pfam00322
    Location:4977
    Endothelin; Endothelin family
  2. XM_011514332.2XP_011512634.1  endothelin-1 isoform X2

    See identical proteins and their annotated locations for XP_011512634.1

    Conserved Domains (3) summary
    PHA02659
    Location:472
    PHA02659; endothelin precursor; Provisional
    smart00272
    Location:107128
    END; Endothelin
    pfam00322
    Location:4876
    Endothelin; Endothelin family
  3. XM_011514330.2XP_011512632.1  endothelin-1 isoform X1

    See identical proteins and their annotated locations for XP_011512632.1

    UniProtKB/Swiss-Prot
    P05305
    UniProtKB/TrEMBL
    Q6FH53
    Conserved Domains (2) summary
    smart00272
    Location:108129
    END; Endothelin
    pfam00322
    Location:4977
    Endothelin; Endothelin family
  4. XM_017010331.1XP_016865820.1  endothelin-1 isoform X1

    UniProtKB/Swiss-Prot
    P05305
    UniProtKB/TrEMBL
    Q6FH53
    Conserved Domains (2) summary
    smart00272
    Location:108129
    END; Endothelin
    pfam00322
    Location:4977
    Endothelin; Endothelin family
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