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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
Location & Maps
more
  • Sequence Map
    Chr13:42301270-42307989 bp, + strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6720 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

  • Chr Location
    6p24.1; chr6:12261214-12297194 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 1476
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: EDN1
  • Protein SuperFamily
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with human EDN1 associations

Human Disease Mouse Models
       Auriculocondylar Syndrome 3; ARCND3   OMIM: 615706
Question Mark Ears, Isolated; QME   OMIM: 612798
Click on a disease name to see all genes associated with that disease.

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
    55 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.
  • All Mutations and Alleles
    11
  • Chemically induced (other)
    1
  • Targeted
    9
  • Transgenic
    1
  • Genomic Mutations
    1 involving Edn1
  • Incidental Mutations
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
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
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 13614 NCBI Gene Model | MGI Sequence Detail 6720 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 38
    Genomic 6
    cDNA 25
    Primer pair 4
    Other 3

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-9298
References
more
  • Summaries
    All 144
    Developmental Gene Expression 44
    Gene Ontology 22
    Phenotypes 55
  • Earliest
    J:17960 Saida K, et al., A novel peptide, vasoactive intestinal contractor, of a new (endothelin) peptide family. Molecular cloning, expression, and biological activity. J Biol Chem. 1989 Sep 5;264(25):14613-6
  • Latest
    J:229471 Branchfield K, et al., Pulmonary neuroendocrine cells function as airway sensors to control lung immune response. Science. 2016 Feb 12;351(6274):707-10

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory