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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
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:42301476-42307990 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 20.82 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    73 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95283
protein coding gene Chr13:42301476-42307990 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020494
protein coding gene Chr13:40830842-40837557 (+)
A/J MGP_AJ_G0020448
protein coding gene Chr13:39467754-39474469 (+)
AKR/J MGP_AKRJ_G0020426
protein coding gene Chr13:40552348-40559056 (+)
BALB/cJ MGP_BALBcJ_G0020444
protein coding gene Chr13:39672614-39679315 (+)
C3H/HeJ MGP_C3HHeJ_G0020243
protein coding gene Chr13:40420668-40428648 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020877
protein coding gene Chr13:42119220-42125921 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018464
protein coding gene Chr13:37575873-37582569 (+)
CAST/EiJ MGP_CASTEiJ_G0019758
protein coding gene Chr13:40234279-40241053 (+)
CBA/J MGP_CBAJ_G0020204
protein coding gene Chr13:43913685-43920390 (+)
DBA/2J MGP_DBA2J_G0020326
protein coding gene Chr13:39028041-39034744 (+)
FVB/NJ MGP_FVBNJ_G0020305
protein coding gene Chr13:38546599-38553679 (+)
LP/J MGP_LPJ_G0020401
protein coding gene Chr13:41080873-41088741 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020334
protein coding gene Chr13:43852075-43858756 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020920
protein coding gene Chr13:40208290-40215008 (+)
PWK/PhJ MGP_PWKPhJ_G0019513
protein coding gene Chr13:39127151-39134027 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019343
protein coding gene Chr13:38831510-38838255 (+)
WSB/EiJ MGP_WSBEiJ_G0019820
protein coding gene Chr13:40513099-40519848 (+)



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
    45 phenotypes from multigenic genotypes
    9 images
    60 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
    less
    Sequences &
    Gene Models
    less
    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
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 42
      Genomic 6
      cDNA 27
      Primer pair 5
      Other 4

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-9298
    References
    more
    • Summaries
      All 193
      Developmental Gene Expression 54
      Gene Ontology 22
      Phenotypes 60
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:274700 Poltavski DM, et al., Venous endothelin modulates responsiveness of cardiac sympathetic axons to arterial semaphorin. Elife. 2019 Feb 8;8

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    Funding Information
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    last database update
    07/09/2019
    MGI 6.14
    The Jackson Laboratory