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    EDN1 endothelin 1 [ Homo sapiens (human) ]

    Gene ID: 1906, updated on 5-Jan-2025

    Summary

    Official Symbol
    EDN1provided by HGNC
    Official Full Name
    endothelin 1provided by HGNC
    Primary source
    HGNC:HGNC:3176
    See related
    Ensembl:ENSG00000078401 MIM:131240; AllianceGenome:HGNC:3176
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See EDN1 in Genome Data Viewer
    Location:
    6p24.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (12230516..12297194)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (12098871..12165580)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (12230749..12297427)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16919 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:12010596-12011140 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16920 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16921 Neighboring gene Sharpr-MPRA regulatory region 4667 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:12036533-12037034 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:12037035-12037534 Neighboring gene HIVEP zinc finger 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24002 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24005 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24006 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:12099563-12100062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24007 Neighboring gene Sharpr-MPRA regulatory region 8641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24011 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24012 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24013 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:12164419-12164919 Neighboring gene uncharacterized LOC124901260 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:12288703-12289203 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:12288202-12288702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24015 Neighboring gene SUMO2 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24016 Neighboring gene MPRA-validated peak5660 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:12366181-12366852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24017 Neighboring gene uncharacterized LOC105374931 Neighboring gene RN7SK pseudogene 293

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (11 hits/1260 screens)

    Associated conditions

    Description Tests
    Auriculocondylar syndrome 3
    MedGen: C3810332 OMIM: 615706 GeneReviews: Not available
    Compare labs
    Question mark ears, isolated
    MedGen: C2748545 OMIM: 612798 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    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

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity PubMed 
    enables endothelin A receptor binding  
    enables endothelin A receptor binding PubMed 
    enables endothelin B receptor binding  
    enables endothelin B receptor binding PubMed 
    enables endothelin B receptor binding PubMed 
    enables hormone activity  
    enables hormone activity PubMed 
    enables protein binding PubMed 
    Items 1 - 25 of 129
    Process Evidence Code Pubs
    involved_in ERK1 and ERK2 cascade  
    involved_in G protein-coupled receptor signaling pathway PubMed 
    involved_in adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway  
    involved_in artery smooth muscle contraction PubMed 
    involved_in artery smooth muscle contraction PubMed 
    involved_in axon extension  
    involved_in axonogenesis involved in innervation  
    involved_in body fluid secretion  
    involved_in branching involved in blood vessel morphogenesis  
    involved_in cAMP/PKA signal transduction PubMed 
    involved_in calcium ion transmembrane transport  
    involved_in calcium-mediated signaling PubMed 
    involved_in canonical Wnt signaling pathway  
    involved_in cardiac neural crest cell migration involved in outflow tract morphogenesis  
    involved_in cartilage development  
    involved_in cell surface receptor signaling pathway PubMed 
    involved_in cell-cell signaling PubMed 
    involved_in cellular response to calcium ion  
    involved_in cellular response to fatty acid  
    involved_in cellular response to follicle-stimulating hormone stimulus  
    involved_in cellular response to glucocorticoid stimulus  
    involved_in cellular response to human chorionic gonadotropin stimulus  
    involved_in cellular response to hydrogen peroxide PubMed 
    involved_in cellular response to hypoxia  
    involved_in cellular response to interleukin-1  
    involved_in cellular response to luteinizing hormone stimulus  
    involved_in cellular response to mineralocorticoid stimulus  
    involved_in cellular response to transforming growth factor beta stimulus  
    involved_in cellular response to tumor necrosis factor  
    involved_in cellular response to type II interferon  
    involved_in cellular response to xenobiotic stimulus  
    involved_in dorsal/ventral pattern formation  
    involved_in embryonic heart tube development  
    involved_in endothelin receptor signaling pathway PubMed 
    involved_in endothelin receptor signaling pathway involved in heart process  
    involved_in epithelial fluid transport  
    involved_in glomerular endothelium development  
    involved_in glomerular filtration  
    involved_in histamine secretion  
    involved_in in utero embryonic development  
    involved_in intracellular calcium ion homeostasis  
    involved_in intracellular calcium ion homeostasis PubMed 
    involved_in leukocyte activation PubMed 
    involved_in maternal process involved in parturition  
    involved_in meiotic cell cycle process involved in oocyte maturation  
    involved_in membrane depolarization  
    involved_in middle ear morphogenesis  
    involved_in mitochondrion organization  
    involved_in negative regulation of blood coagulation PubMed 
    involved_in negative regulation of gene expression  
    involved_in negative regulation of hormone secretion  
    involved_in negative regulation of protein metabolic process PubMed 
    involved_in negative regulation of smooth muscle cell apoptotic process  
    involved_in negative regulation of transcription by RNA polymerase II PubMed 
    involved_in neural crest cell fate commitment  
    NOT involved_in neutrophil chemotaxis PubMed 
    involved_in nitric oxide transport PubMed 
    involved_in noradrenergic neuron differentiation  
    involved_in peptide hormone secretion PubMed 
    involved_in pharyngeal arch artery morphogenesis  
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
    involved_in phospholipase C-activating G protein-coupled receptor signaling pathway  
    involved_in phospholipase D-activating G protein-coupled receptor signaling pathway  
    involved_in podocyte differentiation  
    involved_in positive regulation of DNA-binding transcription factor activity PubMed 
    involved_in positive regulation of JNK cascade PubMed 
    involved_in positive regulation of MAP kinase activity PubMed 
    involved_in positive regulation of MAPK cascade PubMed 
    involved_in positive regulation of artery morphogenesis  
    involved_in positive regulation of calcium-mediated signaling PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction  
    involved_in positive regulation of cardiac muscle hypertrophy PubMed 
    involved_in positive regulation of cation channel activity PubMed 
    involved_in positive regulation of cell growth involved in cardiac muscle cell development PubMed 
    involved_in positive regulation of cell growth involved in cardiac muscle cell development PubMed 
    involved_in positive regulation of cell migration PubMed 
    involved_in positive regulation of cell population proliferation PubMed 
    involved_in positive regulation of cell size PubMed 
    acts_upstream_of positive regulation of chemokine-mediated signaling pathway PubMed 
    involved_in positive regulation of cytosolic calcium ion concentration  
    involved_in positive regulation of endothelial cell migration PubMed 
    involved_in positive regulation of heart rate PubMed 
    involved_in positive regulation of hormone secretion PubMed 
    involved_in positive regulation of mitotic nuclear division PubMed 
    involved_in positive regulation of neutrophil chemotaxis  
    involved_in positive regulation of nitric oxide biosynthetic process PubMed 
    involved_in positive regulation of non-canonical NF-kappaB signal transduction  
    involved_in positive regulation of odontogenesis  
    involved_in positive regulation of prostaglandin secretion  
    involved_in positive regulation of prostaglandin-endoperoxide synthase activity PubMed 
    involved_in positive regulation of protein localization to nucleus  
    involved_in positive regulation of renal sodium excretion  
    involved_in positive regulation of sarcomere organization PubMed 
    acts_upstream_of positive regulation of signaling receptor activity PubMed 
    involved_in positive regulation of smooth muscle cell proliferation PubMed 
    involved_in positive regulation of smooth muscle contraction  
    involved_in positive regulation of transcription by RNA polymerase II PubMed 
    involved_in positive regulation of urine volume  
    involved_in positive regulation of vascular associated smooth muscle cell proliferation  
    involved_in prostaglandin biosynthetic process PubMed 
    involved_in protein kinase C deactivation PubMed 
    involved_in regulation of D-glucose transmembrane transport  
    involved_in regulation of pH  
    involved_in regulation of systemic arterial blood pressure by endothelin  
    involved_in regulation of systemic arterial blood pressure by endothelin PubMed 
    involved_in regulation of vasoconstriction  
    involved_in renal sodium ion absorption  
    involved_in respiratory gaseous exchange by respiratory system  
    involved_in response to activity  
    involved_in response to amino acid  
    involved_in response to amphetamine  
    involved_in response to dexamethasone  
    involved_in response to leptin  
    involved_in response to lipopolysaccharide  
    involved_in response to muscle stretch  
    involved_in response to nicotine  
    involved_in response to ozone  
    involved_in response to prostaglandin F  
    involved_in response to salt  
    involved_in response to testosterone  
    involved_in rhythmic excitation  
    involved_in semaphorin-plexin signaling pathway involved in axon guidance  
    involved_in superoxide anion generation  
    involved_in sympathetic neuron axon guidance  
    involved_in thyroid gland development  
    involved_in transcription by RNA polymerase II  
    involved_in vasoconstriction PubMed 
    involved_in vein smooth muscle contraction  
    involved_in vein smooth muscle contraction PubMed 
    Items 1 - 25 of 129
    Component Evidence Code Pubs
    located_in Weibel-Palade body  
    located_in basal part of cell  
    located_in cytoplasm PubMed 
    located_in extracellular region  
    is_active_in extracellular space  
    located_in extracellular space PubMed 
    located_in rough endoplasmic reticulum lumen  
    located_in transport vesicle  

    General protein information

    Preferred Names
    endothelin-1
    Names
    preproendothelin-1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_016196.2 RefSeqGene

      Range
      38879..45712
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001168319.2 → NP_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:4 → 72
      PHA02659; endothelin precursor; Provisional
      smart00272
      Location:107 → 128
      END; Endothelin
      pfam00322
      Location:48 → 76
      Endothelin; Endothelin family
    2. NM_001416563.1 → NP_001403492.1  endothelin-1 isoform 1 preproprotein

      Status: REVIEWED

      Source sequence(s)
      Z98050
      UniProtKB/Swiss-Prot
      P05305, Q96DA1
      UniProtKB/TrEMBL
      Q6FH53
    3. NM_001416564.1 → NP_001403493.1  endothelin-1 isoform 1 preproprotein

      Status: REVIEWED

      Source sequence(s)
      Z98050
      UniProtKB/Swiss-Prot
      P05305, Q96DA1
      UniProtKB/TrEMBL
      Q6FH53
    4. NM_001416565.1 → NP_001403494.1  endothelin-1 isoform 1 preproprotein

      Status: REVIEWED

      Source sequence(s)
      Z98050
      UniProtKB/Swiss-Prot
      P05305, Q96DA1
      UniProtKB/TrEMBL
      Q6FH53
    5. NM_001955.5 → NP_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, Q96DA1
      UniProtKB/TrEMBL
      Q6FH53
      Related
      ENSP00000368683.5, ENST00000379375.6
      Conserved Domains (2) summary
      smart00272
      Location:108 → 129
      END; Endothelin
      pfam00322
      Location:49 → 77
      Endothelin; Endothelin family

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      12230516..12297194
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      12098871..12165580
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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