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Edn1 Gene Detail
Summary
  • Symbol
    Edn1
  • Name
    endothelin 1
  • Synonyms
    ET-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:95283
    NCBI Gene: 13614
  • Gene Overview
    MyGene.info: EDN1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr13:42301476-42307990 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6515 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 20.82 cM
  • Mapping Data
    5 experiments
Homology
more
  • Human Ortholog
    EDN1, endothelin 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EDN1, endothelin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ARCND3, ET1, HDLCQ7, PPET1, QME
  • Links
    NCBI Gene ID: 1906
    neXtProt AC: NX_P05305
    UniProt: P05305

  • Chr Location
    6p24.1; chr6:12256464-12297194 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 1476
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: EDN1
  • Protein SuperFamily
  • Gene Tree
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    53 phenotypes from 3 alleles in 7 genetic backgrounds
    39 phenotypes from multigenic genotypes
    9 images
    56 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for a targeted null mutation exhibit cardiovascular malformations, craniofacial abnormalities, and lethality due to respiratory failure at birth. Heterozygotes develop elevated arterial blood pressure.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic 13614 NCBI Gene Model | MGI Sequence Detail 6515 C57BL/6J ±  kb
    transcript NM_010104 RefSeq | MGI Sequence Detail 2143 C57BL/6  
    polypeptide P22387 UniProt | EBI | MGI Sequence Detail 202 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      73 from dbSNP Build 142
    • RFLP
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 39
      Genomic 6
      cDNA 25
      Primer pair 5
      Other 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-9298
    References
    more
    • Summaries
      All 185
      Developmental Gene Expression 49
      Gene Ontology 22
      Phenotypes 56
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:254656 Kang BY, et al., Peroxisome Proliferator-Activated Receptor gamma Regulates the V-Ets Avian Erythroblastosis Virus E26 Oncogene Homolog 1/microRNA-27a Axis to Reduce Endothelin-1 and Endothelial Dysfunction in the Sickle Cell Mouse Lung. Am J Respir Cell Mol Biol. 2017 Jan;56(1):131-144

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/08/2018
    MGI 6.12
    The Jackson Laboratory