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EDN1 Gene

protein-coding   GIFtS: 70
GCID: GC06P012290

Endothelin 1

  See EDN1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Endothelin 11 2     ET12
PPET12 3     endothelin-12
ARCND32 5     preproendothelin-12
HDLCQ72 5     Preproendothelin-13
QME2 5     

External Ids:    HGNC: 31761   Entrez Gene: 19062   Ensembl: ENSG000000784017   OMIM: 1312405   UniProtKB: P053053   

Export aliases for EDN1 gene to outside databases

Previous GC identifers: GC06P012348 GC06P012398


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EDN1 Gene:
The protein encoded by this gene is proteolytically processed to release a secreted peptide termed endothelin 1.
This peptide is a potent vasoconstrictor and is produced by vascular endothelial cells. Endothelin 1 also can
affect the central nervous system. Two transcript variants encoding different isoforms have been found for this
gene. (provided by RefSeq, Nov 2009)

GeneCards Summary for EDN1 Gene:
EDN1 (endothelin 1) is a protein-coding gene. Diseases associated with EDN1 include auriculocondylar syndrome 3, and question mark ears, isolated. GO annotations related to this gene include endothelin A receptor binding and cytokine activity. An important paralog of this gene is EDN2.

UniProtKB/Swiss-Prot: EDN1_HUMAN, P05305
Function: Endothelins are endothelium-derived vasoconstrictor peptides

summary for EDN1 Gene:
The endothelin family consists of highly potent vasoconstrictive peptides. Three endogenous isoforms are
known to exist, ET-1, ET-2 and ET-3, and two distinct endothelin receptors have so far been cloned in
mammals, classified as ETA and ETB receptors. Endothelin receptors are widely expressed in all tissues,
which is consistent with their physiological role as vasoactive peptides. They are also localized to
non-vascular structures including epithelial cells, glia and neurons. The principle physiological role of
endothelin receptors is the maintenance of vascular tone. They also have co-mitogenic activity, potentiating
the effects of other growth factors such as PDGF.

Gene Wiki entry for EDN1 (Endothelin 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the EDN1 gene promoter:
         FOXI1   GATA-6   p53   Nkx2-5   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EDN1 promoter sequence
   Search Chromatin IP Primers for EDN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EDN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p24.1   Ensembl cytogenetic band:  6p24.1   HGNC cytogenetic band: 6p24.1

EDN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EDN1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P012290:  view genomic region     (about GC identifiers)

Start:
12,290,529 bp from pter      End:
12,297,427 bp from pter
Size:
6,899 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: EDN1_HUMAN, P05305 (See protein sequence)
Recommended Name: Endothelin-1 precursor  
Size: 212 amino acids; 24425 Da
4 PDB 3D structures from and Proteopedia for EDN1:
1EDN (3D)        1EDP (3D)        1T7H (3D)        1V6R (3D)    
Secondary accessions: Q96DA1

Explore the universe of human proteins at neXtProt for EDN1: NX_P05305

Explore proteomics data for EDN1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Thr100
  • Modification sites at PhosphoSitePlus

  • See EDN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001161791.1  NP_001946.3  

    ENSEMBL proteins: 
     ENSP00000368683  
    Reactome Protein details: P05305

    EDN1 Human Recombinant Protein Products:

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    Novus Biologicals EDN1 Proteins
    Novus Biologicals EDN1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for EDN1
    Cloud-Clone Corp. Proteins for EDN1

     
    Search eBioscience for Proteins for EDN1 

     
    antibodies-online proteins for EDN1 (23 products) 

     
    antibodies-online peptides for EDN1

    EDN1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of EDN1
    R&D Systems Antibodies for EDN1 (Endothelin-1)
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    Novus Biologicals EDN1 Antibodies
    Abcam antibodies for EDN1 (P14138, P05305)
    Cloud-Clone Corp. Antibodies for EDN1
    ThermoFisher Antibody for EDN1
    antibodies-online antibodies for EDN1 (135 products) 

    EDN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for EDN1
    Cloud-Clone Corp. CLIAs for EDN1
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    antibodies-online kits for EDN1 (62 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ENDOLIG: Endogenous ligands

    3 InterPro protein domains:
     IPR001928 Endothln-like_toxin
     IPR020475 Bibrotoxin/Sarafotoxin-D
     IPR019764 Endothelin_toxin_CS

    Graphical View of Domain Structure for InterPro Entry P05305

    ProtoNet protein and cluster: P05305

    1 Blocks protein domain: IPB003641 Endothelin

    UniProtKB/Swiss-Prot: EDN1_HUMAN, P05305
    Similarity: Belongs to the endothelin/sarafotoxin family


    Find genes that share domains with EDN1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EDN1_HUMAN, P05305
    Function: Endothelins are endothelium-derived vasoconstrictor peptides

         Genatlas biochemistry entry for EDN1:
    endothelin 1 (vaso-constrictor/pressor peptide),phospholipase C activator,interacting with I16 for induced
    expression of fetal genes in cardiac myocytes

         Summary: 
    During embryonic development, EDN1 as signaling molecule is secreted from the following cells:
                
    Head Mesenchyme: Ectoderm Cells (Branchial Arch 1), Ectoderm Cells (Branchial Arch 2)

    It affects the following cells:       fully expand
    Head Mesenchyme: Cranial Neural Crest Cells (Branchial Arch 3,4,6), Cranial Neural Crest Cells (Branchial Arch 1)      fully expand to see all 3 cells
    Heart: Neural Crest Outflow Tract Cells (Outflow Tract)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding ----
    GO:0005125cytokine activity IDA19767294
    GO:0005179hormone activity IDA10770212
    GO:0005515protein binding IPI--
    GO:0031707endothelin A receptor binding IDA10770212
         
    Find genes that share ontologies with EDN1           About GenesLikeMe


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Edn1):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     hearing/vestibular/ear  homeostasis/metabolism  mortality/aging  muscle  nervous system 
     normal  renal/urinary system  skeleton 

    Find genes that share phenotypes with EDN1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for EDN1: Edn1tm1Utj Edn1tm1.1Ywa

       genOway: Develop your customized and physiologically relevant rodent model for EDN1

    miRNA
    Products:
        
    miRTarBase miRNAs that target EDN1:
    hsa-mir-124-3p (MIRT022267), hsa-mir-199a-5p (MIRT005432), hsa-mir-1 (MIRT006855), hsa-mir-155-5p (MIRT004455)

    Block miRNA regulation of human, mouse, rat EDN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EDN1 (see all 26):
    hsa-miR-3673 hsa-let-7d hsa-miR-4328 hsa-miR-202 hsa-miR-301a hsa-let-7c hsa-let-7g hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidEDN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for EDN1
    Predesigned siRNA for gene silencing in human, mouse, rat EDN1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for EDN1

    Clone
    Products:
         
    OriGene clones in human, mouse for EDN1 (see all 13)
    OriGene ORF clones in mouse, rat for EDN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): EDN1 (NM_001168319)
    Sino Biological Human cDNA Clone for EDN1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EDN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EDN1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for EDN1
    Browse ESI BIO Cell Lines and PureStem Progenitors for EDN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EDN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EDN1_HUMAN, P05305: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton2
    cytosol2
    endoplasmic reticulum2
    mitochondrion2
    nucleus2
    plasma membrane2
    golgi apparatus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA10770212
    GO:0005737cytoplasm IDA12379507

    Find genes that share ontologies with EDN1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EDN1 About   (see all 20)  
    See pathways by source

    SuperPathContained pathways About
    1Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    2Peptide ligand-binding receptors
    Class A/1 (Rhodopsin-like receptors)0.71
    Peptide ligand-binding receptors0.60
    GPCR ligand binding0.71
    3Gastrin-CREB signalling pathway via PKC and MAPK
    Gastrin-CREB signalling pathway via PKC and MAPK0.90
    G alpha (q) signalling events0.90
    4Development Endothelin 1 EDNRA signaling
    Development Endothelin 1 EDNRA signaling0.41
    Development Endothelin 1 EDNRA transactivation of EGFR0.41
    5Development Angiotensin activation of ERK
    Development EDNRB signaling0.54


    Find genes that share SuperPaths with EDN1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for EDN1
        Endothelin-1 Signaling Pathway
    HIF1Alpha Pathway
    NFAT and Cardiac Hypertrophy

    5 GeneGo (Thomson Reuters) Pathways for EDN1
        Development Leptin signaling via JAK/STAT and MAPK cascades
    Development Endothelin-1/EDNRA transactivation of EGFR
    Development EDNRB signaling
    Development Endothelin-1/EDNRA signaling
    Immune response IL-1 signaling pathway

    Selected BioSystems Pathways for EDN1 (see all 7)
        MicroRNAs in cardiomyocyte hypertrophy
    Physiological and Pathological Hypertrophy of the Heart
    Prostaglandin Synthesis and Regulation
    Endothelin
    Endothelins


    2 Reactome Pathways for EDN1
        Peptide ligand-binding receptors
    G alpha (q) signalling events


    3 Kegg Pathways  (Kegg details for EDN1):
        HIF-1 signaling pathway
    TNF signaling pathway
    Melanogenesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EDN1 (see all 9): 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              Fibrosis in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Angiogenesis in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for EDN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EDN1 (P053051, 2, 3 ENSP000003686834) via UniProtKB, MINT, STRING, and/or I2D (see all 169)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BAG6P463792, 3MINT-63406 I2D: score=5 
    ENSG00000096155P463792, 3MINT-63406 I2D: score=5 
    ENSG00000227761P463792, 3MINT-63406 I2D: score=5 
    ENSG00000228760P463792, 3MINT-63406 I2D: score=5 
    ENSG00000229524P463792, 3MINT-63406 I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 81):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA19767294
    GO:0001501skeletal system development ----
    GO:0001516prostaglandin biosynthetic process IDA9492062
    GO:0001569patterning of blood vessels IEA--
    GO:0001666response to hypoxia IEA--

    Find genes that share ontologies with EDN1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for EDN1
      Browse compounds at ApexBio 

    Compounds for EDN1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Sarafotoxin S6aEndothelin receptor agonist[126738-34-9]
    Endothelin 3 (human, rat) Potent vasoconstrictor[117399-93-6]
    Endothelin 1 (human, porcine) Potent vasoconstrictor peptide[117399-94-7]
    Endothelin 2 (human)ETA/ETB agonist[122879-69-0]
    Sarafotoxin S6b Endothelin receptor agonist, non-selective [116303-65-2]

    1 HMDB Compound for EDN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Nitric oxideMononitrogen monoxide (see all 9)10102-43-9--

    Selected Novoseek inferred chemical compound relationships for EDN1 gene (see all 138)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bq123 91.8 135 8735635 (4), 11687541 (3), 10604982 (2), 12193073 (2) (see all 86)
    sarafotoxin 91.3 241 7889304 (7), 8287917 (3), 8587426 (3), 12193054 (3) (see all 99)
    bq788 89.3 77 16318777 (3), 15765100 (3), 9595416 (2), 9846633 (2) (see all 52)
    bosentan 86.4 119 17322637 (6), 19477379 (4), 8587420 (4), 8823230 (3) (see all 54)
    phosphoramidon 85 261 7510004 (8), 7550091 (7), 8406292 (6), 8528566 (6) (see all 80)
    fr139317 81 36 8032583 (3), 9831924 (3), 9595416 (2), 9846633 (2) (see all 21)
    nitric oxide 80.9 2131 14526432 (11), 14695117 (8), 18001528 (8), 17361520 (8) (see all 99)
    bq 3020 79 8 15075338 (3), 10822048 (2), 7647976 (1), 7679333 (1) (see all 5)
    bq610 77.9 12 10218898 (1), 7796447 (1), 10445306 (1), 8631621 (1) (see all 10)
    prostacyclin 77.5 354 15300217 (6), 8751735 (6), 9423756 (6), 7775630 (6) (see all 99)

    3 PharmGKB related drug/compound annotations for EDN1 gene    About this table
    Drug/compound PharmGKB Annotation
    atenololCA  
    irbesartanCA  
    muraglitazarCA  



    Find genes that share compounds with EDN1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EDN1 gene (2 alternative transcripts): 
    NM_001168319.1  NM_001955.4  

    Unigene Cluster for EDN1:

    Endothelin 1
    Hs.511899  [show with all ESTs]
    Unigene Representative Sequence: NM_001955
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000379375(uc010jpb.3 uc003nad.3 uc003naf.4 uc003nae.4)

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate EDN1 (see all 26):
    hsa-miR-3673 hsa-let-7d hsa-miR-4328 hsa-miR-202 hsa-miR-301a hsa-let-7c hsa-let-7g hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmidEDN1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EDN1
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): EDN1 (NM_001168319)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EDN1
    Primer
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    OriGene qPCR primer pairs and template standards for EDN1
    OriGene qSTAR qPCR primer pairs in human, mouse for EDN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat EDN1
      QuantiTect SYBR Green Assays in human, mouse, rat EDN1
      QuantiFast Probe-based Assays in human, mouse, rat EDN1

    Additional mRNA sequence: 

    AK291838.1 AK307089.1 AK313914.1 BC009720.1 CR541903.1 S56805.1 Y00749.1 

    5 DOTS entries:

    DT.215144  DT.99934348  DT.91949623  DT.100777041  DT.121310909 

    Selected AceView cDNA sequences (see all 143):

    CB105976 BQ009676 F02908 BG054871 T27748 BQ015938 AL548191 AW043551 
    BF590429 R07349 CA309734 BM671893 AA663956 CA426258 CB105477 CA306604 
    CR602522 BM977229 CR605456 BM680754 CB105582 CA307702 CR591383 CA307269 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for EDN1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5
    SP1:                    -                           
    SP2:                    -                           
    SP3:                                                


    ECgene alternative splicing isoforms for EDN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    EDN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTGTTTTG
    EDN1 Expression
    About this image


    EDN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Cardiac Fibroblasts Myocardium
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Bone Marrow
             TGFbeta3+BMP7-induced chondrocytes
     
     Head Mesenchyme (Muscoskeletal System)    fully expand to see all 2 entries
             Ectoderm Cells Branchial Arch 1
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Hindgut
    EDN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EDN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.511899

    UniProtKB/Swiss-Prot: EDN1_HUMAN, P05305
    Tissue specificity: Expressed in lung, placental stem villi vessels and in cultured placental vascular smooth
    muscle cells

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EDN1 (see all 9): 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat
              Fibrosis in human mouse rat
              Hypoxia Signaling Pathway in human mouse rat
              Angiogenesis in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for EDN1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Edn11 , 5 endothelin 11, 5 79.17(n)1
    73.5(a)1
      13 (20.82 cM)5
    136141  NM_010104.31  NP_034234.11 
     423012705 
    chicken
    (Gallus gallus)
    Aves EDN11 endothelin 1 61.26(n)
    49.21(a)
      420854  XM_418943.4  XP_418943.2 
    lizard
    (Anolis carolinensis)
    Reptilia EDN16
    endothelin 1
    45(a)
    1 ↔ 1
    GL343209.1(3436193-3446148)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia edn11 endothelin 1 55.05(n)
    47.98(a)
      100144700  XM_002932664.2  XP_002932710.1 
    zebrafish
    (Danio rerio)
    Actinopterygii edn11 endothelin 1 53.06(n)
    46.94(a)
      58032  NM_131519.1  NP_571594.1 


    ENSEMBL Gene Tree for EDN1 (if available)
    TreeFam Gene Tree for EDN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EDN1 gene
    EDN22  EDN32  
    1 SIMAP similar gene for EDN1 using alignment to 2 protein entries:     EDN1_HUMAN (see all proteins):
    EDN3

    Find genes that share paralogs with EDN1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EDN1 (see all 254)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs53701,2,,4
    C,F,A,Hother112218924(+) GGCAAG/TCCCTC 4 K N mis1 ese339Minor allele frequency- T:0.23MN EA NS NA WA EU 11665
    rs1469889561,2
    C--12211213(+) TGTTGA/GGGGGG 2 -- us2k10--------
    rs1826116271,2
    --12211214(+) GTTGGG/TGGGGA 2 -- us2k10--------
    rs737227591,2
    C,F--12211262(+) CCTCTG/CCTCTC 2 -- us2k12Minor allele frequency- C:0.50WA CSA 4
    rs37568641,2
    C,F--12211276(-) AAAGCC/TGACCT 2 -- us2k10--------
    rs717411611,2
    C--12211410(+) CAGCG-/GAGGCCAG
    GGGCCCCGGCA
    GAGGC
    2 -- us2k10--------
    rs1870293491,2
    --12211570(+) GACCTG/TTCGCT 2 -- us2k10--------
    rs1441853651,2
    --12211595(+) TCCCCC/TAGCTG 2 -- us2k10--------
    rs1918448151,2
    --12211607(+) GACTTC/TGAGGG 2 -- us2k10--------
    rs37568631,2
    C,F,A,H--12211697(-) CTTTTT/CTCCCT 2 -- us2k1 trp35Minor allele frequency- C:0.31NS CSA WA NA EA 509

    HapMap Linkage Disequilibrium report for EDN1 (12290529 - 12297427 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for EDN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509117CNV Insertion20534489
    nsv508394CNV Loss20534489
    nsv830586CNV Gain17160897

    Human Gene Mutation Database (HGMD): EDN1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EDN1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 131240   
    OMIM disorders: 615706  612798  
    Selected diseases for EDN1 (see all 42):    
    About MalaCards
    auriculocondylar syndrome 3    question mark ears, isolated    complex regional pain syndrome type 1    cor pulmonale
    cerebral arteriosclerosis    meconium aspiration syndrome    chronic pulmonary heart disease    renal hypertension
    hepatorenal syndrome    arteriosclerosis    low tension glaucoma    complex regional pain syndrome
    auriculocondylar syndrome 1    middle cerebral artery infarction    low renin hypertension    hypertensive nephropathy
    eisenmenger syndrome    portal hypertension    twin-to-twin transfusion syndrome    thromboangiitis obliterans

    13 diseases from the University of Copenhagen DISEASES database for EDN1:
    Hypertension     Heart disease     Atherosclerosis     Kidney failure
    Portal hypertension     Diabetes mellitus     Cerebrovascular accident     Systemic scleroderma
    Glaucoma     Hepatopulmonary syndrome     Proteinuria     Asthma
    Liver cirrhosis

    Find genes that share disorders with EDN1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for EDN1 gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypertension pulmonary 79 355 8594905 (6), 16864942 (4), 10625089 (4), 19632577 (4) (see all 99)
    vasospasm 72.6 99 9254095 (6), 12910400 (4), 11053063 (3), 14623768 (3) (see all 58)
    hypertension arterial 68.8 71 11675821 (3), 12628956 (2), 19632577 (2), 18925520 (2) (see all 47)
    atherosclerosis 66.7 235 11755940 (4), 9647335 (4), 15320823 (4), 18673159 (4) (see all 99)
    essential hypertension 66.7 149 9283062 (6), 10522417 (4), 12425201 (3), 19644593 (3) (see all 71)
    heart failure 65.1 290 8176102 (6), 9861298 (5), 16076689 (5), 8606275 (4) (see all 99)
    pulmonary hypertension secondary 64.1 13 10194659 (2), 18211765 (1), 8594905 (1), 10444023 (1) (see all 11)
    cardiovascular diseases 62.8 117 17617392 (2), 20217138 (2), 19057845 (2), 11078363 (2) (see all 80)
    cerebral vasospasm 61.3 47 10713190 (4), 11340231 (3), 10763512 (3), 15104415 (2) (see all 27)
    preeclampsia 60.7 244 19730395 (6), 11167202 (5), 12193142 (5), 17261879 (5) (see all 84)

    Genetic Association Database (GAD): EDN1
    Human Genome Epidemiology (HuGE) Navigator: EDN1 (137 documents)

    Export disorders for EDN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EDN1 gene, integrated from 10 sources (see all 3982):
    (articles sorted by number of sources associating them with EDN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evaluation of the Lys198Asn and -134delA genetic polymorphisms of the endothelin-1 gene. (PubMed id 15198485)1, 4, 9 Tanaka C....Miyata T. (Hypertens. Res. 2004)
    2. Maternal EDN1 G5665T polymorphism influences circulating endothelin-1 levels and plays a role in determination of preeclampsia phenotype. (PubMed id 19730395)1, 4, 9 Aggarwal P.K....Jha V. (J. Hypertens. 2009)
    3. Polymorphisms in the endothelin-1 (EDN1) are associated with asthma in two populations. (PubMed id 17960156)1, 4, 9 Zhu G....Pillai S.G. (Genes Immun. 2008)
    4. [Correlation between polymorphism of TaqI of ET-1 gene and cirrhotic portal hypertension]. (PubMed id 12887757)1, 4, 9 Lin J.S....Xiong P. (Zhonghua Yi Xue Za Zhi 2003)
    5. Association of endothelin-1 gene polymorphisms with variant angina in Korean patients. (PubMed id 19012521)1, 4, 9 Lee J....Kim J. (Clin. Chem. Lab. Med. 2008)
    6. Association of single nucleotide polymorphisms in endothelin family genes with the progression of atherosclerosis in patients with essential hypertension. (PubMed id 17525706)1, 4, 9 Yasuda H....Kawano Y. (J Hum Hypertens 2007)
    7. Endothelin axis polymorphisms in patients with scleroderma. (PubMed id 16947775)1, 4, 9 Fonseca C....Abraham D. (Arthritis Rheum. 2006)
    8. Genes encoding endothelin-converting enzyme-1 and endothelin-1 interact to influence blood pressure in women: the EVA study. (PubMed id 15126915)1, 4, 9 Funalot B....DucimetiA"re P. (J. Hypertens. 2004)
    9. Genetic polymorphisms in endothelin-receptor-subtype-a-gene as susceptibility factor for obstructive sleep apnea syndrome. (PubMed id 20083432)1, 4, 9 Buck D....Fietze I. (Sleep Med. 2010)
    10. Screening of the endothelin1 gene (EDN1) in a cohort of patients with essential left ventricular hypertrophy. (PubMed id 17335511)1, 4, 9 Castro M.G....Coto E. (Ann. Hum. Genet. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1906 HGNC: 3176 AceView: EDN1 Ensembl:ENSG00000078401 euGenes: HUgn1906
    ECgene: EDN1 Kegg: 1906 H-InvDB: EDN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EDN1 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/edn1/
    R&D Systems' cytokine source book: Endothelin-1http://www.rndsystems.com/molecule_detail.aspx?m=1364
    Wikipedia http://en.wikipedia.org/wiki/Endothelin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EDN1 gene:
    Search GeneIP for patents involving EDN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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