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    Edn1 endothelin 1 [ Mus musculus (house mouse) ]

    Gene ID: 13614, updated on 21-Apr-2024

    Summary

    Official Symbol
    Edn1provided by MGI
    Official Full Name
    endothelin 1provided by MGI
    Primary source
    MGI:MGI:95283
    See related
    Ensembl:ENSMUSG00000021367 AllianceGenome:MGI:95283
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ET-1; PPET1; preproET
    Summary
    This gene encodes a member of the endothelin family of peptides. The encoded preproprotein undergoes proteolytic processing to generate a peptide before secretion by the vascular endothelial cells. The mature peptide has various biological activities such as vasoconstriction, cell proliferation, stimulation of hormone release and modulation of central nervous activity. Mice lacking the encoded protein exhibit neonatal lethality accompanied with numerous craniofacial and cardiovascular defects due to disruption in cranial and cardiac neural crest cell patterning during early embryogenesis. [provided by RefSeq, Feb 2016]
    Expression
    Broad expression in lung adult (RPKM 5.9), colon adult (RPKM 3.5) and 20 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    13 A4; 13 20.82 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (42454952..42461466)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (42301476..42307990)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E5390 Neighboring gene human immunodeficiency virus type I enhancer binding protein 1 Neighboring gene STARR-positive B cell enhancer mm9_chr13:42189027-42189327 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:42196875-42197076 Neighboring gene STARR-seq mESC enhancer starr_34312 Neighboring gene predicted gene, 32778 Neighboring gene VISTA enhancer mm235 Neighboring gene STARR-seq mESC enhancer starr_34313 Neighboring gene STARR-seq mESC enhancer starr_34315 Neighboring gene STARR-seq mESC enhancer starr_34316 Neighboring gene predicted gene, 32833 Neighboring gene hematological and neurological expressed 1 pseudogene 4

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (6)  1 citation
    • Endonuclease-mediated (2) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cytokine activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables endothelin A receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables endothelin A receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables endothelin A receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables endothelin B receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables endothelin B receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables hormone activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hormone activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables receptor ligand activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in G protein-coupled receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in MAPK cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in MAPK cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in artery smooth muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in axon extension IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in axon guidance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in axonogenesis involved in innervation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within blood vessel diameter maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within body fluid secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within branching involved in blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in branching involved in blood vessel morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium ion transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium-mediated signaling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cardiac neural crest cell migration involved in outflow tract morphogenesis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell surface receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell-cell signaling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to follicle-stimulating hormone stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to human chorionic gonadotropin stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to hydrogen peroxide ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in cellular response to luteinizing hormone stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to organic substance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to organic substance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to organic substance ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    acts_upstream_of_or_within dorsal/ventral pattern formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in embryonic heart tube development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endothelin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in endothelin receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in endothelin receptor signaling pathway involved in heart process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in epithelial fluid transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in gene expression IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in glomerular endothelium development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in glomerular filtration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in histamine secretion ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intracellular calcium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in intracellular calcium ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular calcium ion homeostasis ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in intracellular signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in meiotic cell cycle process involved in oocyte maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in membrane depolarization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within middle ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitochondrion organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of gene expression ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of hormone secretion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of nitric-oxide synthase biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of protein metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of smooth muscle cell apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neural crest cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neural crest cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neural crest cell fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nitric oxide transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in noradrenergic neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in peptide hormone secretion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in pharyngeal arch artery morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phosphatidylinositol 3-kinase/protein kinase B signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within phospholipase C-activating G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within phospholipase D-activating G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in podocyte differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of JUN kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of MAP kinase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of artery morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of calcium-mediated signaling ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cardiac muscle hypertrophy ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cation channel activity ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in positive regulation of cell growth involved in cardiac muscle cell development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell size ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of positive regulation of chemokine-mediated signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cytosolic calcium ion concentration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of heart rate ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of hormone secretion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of mitotic nuclear division ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of neutrophil chemotaxis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of non-canonical NF-kappaB signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of odontogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of prostaglandin secretion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of prostaglandin-endoperoxide synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of prostaglandin-endoperoxide synthase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of protein localization to nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of renal sodium excretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of sarcomere organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of positive regulation of signaling receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of smooth muscle cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of smooth muscle contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of smooth muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of urine volume IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of urine volume IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of vascular associated smooth muscle cell proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in prostaglandin biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein kinase A signaling ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    involved_in protein kinase C deactivation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within protein kinase C-activating G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of blood pressure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of blood pressure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of blood pressure ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of glucose transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of pH IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of systemic arterial blood pressure by endothelin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of systemic arterial blood pressure by endothelin ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in renal sodium ion absorption IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within respiratory gaseous exchange by respiratory system IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to amphetamine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within rhythmic excitation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in semaphorin-plexin signaling pathway involved in axon guidance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of smooth muscle contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in superoxide anion generation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in sympathetic neuron axon guidance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in thyroid gland development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vasoconstriction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in vein smooth muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vein smooth muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in Weibel-Palade body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in basal part of cell ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    located_in rough endoplasmic reticulum lumen ISO
    Inferred from Sequence Orthology
    more info
     

    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.

    mRNA and Protein(s)

    1. NM_010104.4NP_034234.1  endothelin-1 preproprotein

      See identical proteins and their annotated locations for NP_034234.1

      Status: REVIEWED

      Source sequence(s)
      AC154635, AK040778, BY618506, CJ135809
      Consensus CDS
      CCDS26474.1
      UniProtKB/Swiss-Prot
      P22387, P70203, P97338
      UniProtKB/TrEMBL
      Q544E0
      Related
      ENSMUSP00000021796.8, ENSMUST00000021796.9
      Conserved Domains (2) summary
      smart00272
      Location:109130
      END; Endothelin
      pfam00322
      Location:4977
      Endothelin; Endothelin family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      42454952..42461466
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)