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Edn1
Gene Detail
 Symbol
Name
ID
Edn1
endothelin 1
MGI:95283
Synonyms ET-1
Feature Type protein coding gene
Genetic Map
Chromosome 13
20.82 cM
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr13:42301270-42307989 bp, + strand
From NCBI annotation of GRCm38

  6720 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1476  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: endothelin
Gene Tree: Edn1

Human
homologs
Human Homolog EDN1, endothelin 1
NCBI Gene ID 1906
neXtProt AC  NX_P05305
Human Synonyms  ARCND3, ET1, HDLCQ7, PPET1, QME
Human Chr (Location)  6p24.1; chr6:12290296-12297194 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human EDN1
Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Targeted(6)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Phenotype Images(3)
Interactions
Edn1 interacts with 221 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (101 annotations)
Process artery smooth muscle contraction, blood vessel morphogenesis, ...
Component basal part of cell, cell, ...
Function cytokine activity, endothelin A receptor binding, ...
External Resources: FuncBase
Expression
Literature Summary: (38 records)
Data Summary: Results (281)    Tissues (108)    Images (24)
Theiler Stages: 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
RNA in situ 172
Northern blot 3
RT-PCR 106
cDNA source data(23)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(36) Genomic(6) cDNA(25) Primer pair(4) Other(1)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000021367 (Evidence)
Entrez Gene13614 (Evidence)
UniGene14543
DFCITC1580253, TC1674894
DoTSDT.101387615, DT.60105094
Consensus CDS ProjectCCDS26474.1
International Mouse Knockout Project StatusEdn1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 13614 NCBI Gene Model | MGI Sequence Detail 6720 C57BL/6J ±  kb
transcript NM_010104 RefSeq | MGI Sequence Detail 2344 C57BL/6 
polypeptide P22387 UniProt | EBI | MGI Sequence Detail 202 Not Applicable 

For the selected sequences
All sequences(24) RefSeq(2) UniProt(2)
Polymorphisms RFLP(1) : SNPs within 2kb(73 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR020475 Bibrotoxin/Sarafotoxin-D
InterPro IPR001928 Endothelin-like toxin
InterPro IPR019764 Endothelin-like toxin, conserved site
Protein Ontology PR:000006897 endothelin-1
Graphical View of Protein Domain Structure
References (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:207974 Hill CR, et al., Jagged1 is essential for osteoblast development during maxillary ossification. Bone. 2014 May;62:10-21
All references(132)
Other
accession IDs
MGD-MRK-9298

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
08/12/2014
MGI 5.19
The Jackson Laboratory