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Edn1 endothelin 1 [ Mus musculus (house mouse) ]

Gene ID: 13614, updated on 26-Mar-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
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Genomic context

See Edn1 in Genome Data Viewer
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)