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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
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:42454952-42461466 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 20.82 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    196 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_95283
 protein coding gene Chr13:42454952-42461466 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EDN1, endothelin 1
  • Synonyms
    ARCND3, ET1, HDLCQ7, PPET1, QME
  • Links
    NCBI Gene ID: 1906
    neXtProt AC: NX_P05305
    UniProt: P05305

  • Chr Location
    6p24.1; chr6:12230516-12297194 (+)  GRCh38
Human Diseases
more
  • Diseases
    13 with human EDN1 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    53 phenotypes from 3 alleles in 7 genetic backgrounds
    20 phenotypes from multigenic genotypes
    9 images
    66 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
less
  • All GO Annotations
    238
  • GO References
    43
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1215
  • Tissues
    257
  • cDNA Data
    26
  • Literature Summary
    60
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 ZRU/MplStud  
    polypeptide P22387 UniProt | EBI | MGI Sequence Detail 202 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 48
      Genomic 6
      cDNA 28
      Primer pair 8
      Other 6

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-9298
    References
    more
    • Summaries
      All 233
      Developmental Gene Expression 60
      Gene Ontology 43
      Phenotypes 66
    • Earliest
      J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
    • Latest
      J:345597 Quilez S, et al., Loss of Neogenin alters branchial arch development and leads to craniofacial skeletal defects. Front Cell Dev Biol. 2024;12:1256465
    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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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory