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ECE1 Gene

protein-coding   GIFtS: 71
GCID: GC01M021543

Endothelin Converting Enzyme 1


(Previous symbol: ECE)
Microbiology & Infectious Diseases Congress
  See 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 Converting Enzyme 11 2
ECE1 2
ECE-12 3
EC 3.4.24.713 8
Endothelin-Converting Enzyme 12
EC 3.4.248

External Ids:    HGNC: 31461   Entrez Gene: 18892   Ensembl: ENSG000001172987   OMIM: 6004235   UniProtKB: P428923   

Export aliases for ECE1 gene to outside databases

Previous GC identifers: GC01M021116 GC01M020581 GC01M020692 GC01M021015 GC01M021290 GC01M021417 GC01M019789


(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 ECE1 Gene:
The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically
active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic
dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this
gene.(provided by RefSeq, Sep 2009)

GeneCards Summary for ECE1 Gene:
ECE1 (endothelin converting enzyme 1) is a protein-coding gene. Diseases associated with ECE1 include ece1-related hirschsprung disease, and hirschsprung disease, cardiac defects, and autonomic dysfunction. GO annotations related to this gene include endopeptidase activity and protein homodimerization activity. An important paralog of this gene is PHEX.

UniProtKB/Swiss-Prot: ECE1_HUMAN, P42892
Function: Converts big endothelin-1 to endothelin-1

Gene Wiki entry for ECE1 (Endothelin converting enzyme 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:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ECE1 gene promoter:
         POU2F1   AP-1   POU2F1a   ATF-2   Hand1   c-Jun   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ECE1 promoter sequence
   Search Chromatin IP Primers for ECE1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ECE1


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

Entrez Gene cytogenetic band: 1p36.1   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.1

ECE1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ECE1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M021543:  view genomic region     (about GC identifiers)

Start:
21,543,740 bp from pter      End:
21,672,034 bp from pter
Size:
128,295 bases      Orientation:
minus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ECE1_HUMAN, P42892 (See protein sequence)
Recommended Name: Endothelin-converting enzyme 1  
Size: 770 amino acids; 87164 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: Homodimer; disulfide-linked
Sequence caution: Sequence=AAX35820.1; Type=Erroneous gene model prediction; Sequence=CAA84548.1; Type=Erroneous
initiation;
1 PDB 3D structure from and Proteopedia for ECE1:
3DWB (3D)    
Secondary accessions: A8K3P1 B4E291 Q14217 Q17RN5 Q2Z2K8 Q58GE7 Q5THM5 Q5THM7 Q5THM8 Q9UJQ6
Q9UPF4 Q9UPM4 Q9Y501
Alternative splicing: 4 isoforms:  P42892-1   P42892-2   P42892-3   P42892-4   

Explore the universe of human proteins at neXtProt for ECE1: NX_P42892

Explore proteomics data for ECE1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys676
  • Glycosylation2 at Asn166, Asn187, Asn210, Asn270, Asn316, Asn362, Asn383, Asn539, Asn632, Asn651
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ECE1 (P42892) (see all 17)
     FPAGILQ  HAFDDQG  AYRAYQN  LGGWNITG 


    See ECE1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001106818.1  NP_001106819.1  NP_001106820.1  NP_001388.1  

    ENSEMBL proteins: 
     ENSP00000405088   ENSP00000349581   ENSP00000364028   ENSP00000388439   ENSP00000264205  
     ENSP00000431856   ENSP00000436633   ENSP00000432860  

    ECE1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ECE1 (ECE-1)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ECE1
    OriGene Protein Over-expression Lysate for ECE1
    OriGene MassSpec for ECE1
    OriGene Custom Protein Services for ECE1
    GenScript Custom Purified and Recombinant Proteins Services for ECE1
    Novus Biologicals ECE1 Protein
    Novus Biologicals ECE1 Lysates
    Sino Biological Recombinant Protein for ECE1
    Sino Biological Cell Lysate for ECE1
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ECE1

    ECE1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals ECE1 Antibodies
    Abcam antibodies for ECE1
    Cloud-Clone Corp. Antibodies for ECE1
    ThermoFisher Antibody for ECE1
    LSBio Antibodies in human, mouse, rat for ECE1

    ECE1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript ECE1-Activity-based Protease?src=genec Assay for Compound Screening
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ECE1
    Cloud-Clone Corp. CLIAs for ECE1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: Endothelin-converting enzyme 1
    Endopeptidases

    4 InterPro protein domains:
     IPR024079 MetalloPept_cat_dom
     IPR008753 Peptidase_M13_N
     IPR000718 Peptidase_M13
     IPR018497 Peptidase_M13_C

    Graphical View of Domain Structure for InterPro Entry P42892

    ProtoNet protein and cluster: P42892

    2 Blocks protein domains:
    IPB000718 Neprilysin metalloprotease (M13) family signature
    IPB008753 Peptidase M13


    UniProtKB/Swiss-Prot: ECE1_HUMAN, P42892
    Similarity: Belongs to the peptidase M13 family


    ECE1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ECE1_HUMAN, P42892
    Function: Converts big endothelin-1 to endothelin-1
    Catalytic activity: Hydrolysis of the 21-Trp- -Val-22 bond in big endothelin to form endothelin 1
    Enzyme regulation: Inhibited by phosphoramidon

         Genatlas biochemistry entry for ECE1:
    endothelin converting enzyme 1,converting the precursor big ET-1 to mature ET-1 (EDN1),metallopeptidase,neutral
    endopeptidase family,homolog to MME,including four isoforms ECE1A,ECE1B,ECE1C,ECE1D,diverging in their N terminal
    sequence and displaying different patterns of subcellular localization

         Enzyme Numbers (IUBMB): EC 3.4.24.711 2 EC 3.4.242

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity IDA18039931
    GO:0004222metalloendopeptidase activity ISS8062389
    GO:0017046peptide hormone binding IC7864876
    GO:0042803protein homodimerization activity IPI7805846
    GO:0046872metal ion binding IEA--
         
    ECE1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ECE1:
     Upregulation of Wnt/beta-caten 

         Selected MGI mutant phenotypes (inferred from 1 allele(MGI details for Ece1) (see all 16):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 
     muscle  nervous system  normal  pigmentation  skeleton 

    ECE1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ece1tm1Reh for ECE1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ECE1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ECE1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ECE1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ECE1

    miRNA
    Products:
        
    miRTarBase miRNAs that target ECE1:
    hsa-mir-484 (MIRT042082), hsa-mir-124-3p (MIRT022165), hsa-mir-335-5p (MIRT016794)

    Block miRNA regulation of human, mouse, rat ECE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ECE1 (see all 51):
    hsa-miR-194* hsa-miR-1197 hsa-miR-513a-5p hsa-miR-139-5p hsa-miR-128 hsa-miR-4267 hsa-miR-374c hsa-miR-124
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ECE1
    Predesigned siRNA for gene silencing in human, mouse, rat ECE1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ECE1

    Clone
    Products:
         
    OriGene clones in human, mouse for ECE1 (see all 26)
    OriGene ORF clones in mouse, rat for ECE1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): ECE1 (NM_001113349)
    Sino Biological Human cDNA Clone for ECE1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ECE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ECE1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ECE1
    Browse ESI BIO Cell Lines and PureStem Progenitors for ECE1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ECE1


    (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
    ECE1_HUMAN, P42892: Cell membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endosome4
    extracellular2
    cytosol1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319
    GO:0005768endosome IDA18039931
    GO:0005769early endosome IDA18039931
    GO:0005886plasma membrane IDA18039931
    GO:0009897external side of plasma membrane IDA9449382

    ECE1 for ontologies           About GeneDecksing


    (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 ECE1 About    
    See pathways by source

    SuperPathContained pathways About
    1PEDF Induced Signaling
    Endothelin-1 Signaling Pathway0.46
    2SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways
    3Endothelin
    Endothelin
    4Corticotropin-releasing hormone
    Corticotropin-releasing hormone
    5A-beta Uptake and Degradation
    A-beta Uptake and Degradation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for ECE1
        A-beta Uptake & Degradation

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ECE1
        Endothelin-1 Signaling Pathway

    3 BioSystems Pathways for ECE1
        SIDS Susceptibility Pathways
    Corticotropin-releasing hormone
    Endothelin



        Pathway & Disease-focused RT2 Profiler PCR Array including ECE1: 
              Hypertension in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ECE1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for ECE1 (P428923 ENSP000003640284) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EDN1P053053, ENSP000003686834I2D: score=1 STRING: ENSP00000368683
    MYOCQ999723, ENSP000000375024I2D: score=1 STRING: ENSP00000037502
    UBCENSP000003448184STRING: ENSP00000344818
    APLP2ENSP000002635744STRING: ENSP00000263574
    APPENSP000002849814STRING: ENSP00000284981
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001921positive regulation of receptor recycling IMP18039931
    GO:0003100regulation of systemic arterial blood pressure by endothelin IC7805846
    GO:0006508proteolysis ----
    GO:0007507heart development IMP9915973
    GO:0010814substance P catabolic process IDA18039931

    ECE1 for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ECE1

    1 DrugBank Compound for ECE1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    5-(2-hydroxyethyl)nonane-1,9-diol-- --target--10592235

    1 IUPHAR Ligand for ECE1 (Endothelin-converting enzyme 1)    About this table
    LigandTypeActionAffinityPubmed IDs
    SM19712
    InhibitorInhibition11043447

    Selected Novoseek inferred chemical compound relationships for ECE1 gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphoramidon 92.6 76 7550091 (5), 12827039 (4), 8587470 (4), 8828809 (2) (see all 42)
    thiorphan 89.2 18 8825361 (1), 17643133 (1), 8615890 (1), 12193062 (1) (see all 13)
    thermolysin 44.1 7 8587473 (2), 7529108 (1), 9141502 (1)
    prostacyclin 42.3 3 11470015 (1), 16855133 (1), 11067800 (1)
    zinc 41.1 20 11389689 (1), 11831855 (1), 9409753 (1), 10620363 (1) (see all 15)
    phosphonate 36.8 3 18160283 (1), 9595403 (1), 8587470 (1)
    1,10-phenanthroline 33.4 1 15969636 (1)
    captopril 32.5 2 7864859 (1), 7797512 (1)
    glucose 2.89 21 15010576 (5), 18974277 (5)
    cholesterol 2.67 1 10359648 (1)



    ECE1 for compounds           About GeneDecksing



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ECE1 gene (4 alternative transcripts): 
    NM_001113347.1  NM_001113348.1  NM_001113349.1  NM_001397.2  

    Unigene Cluster for ECE1:

    Endothelin converting enzyme 1
    Hs.195080  [show with all ESTs]
    Unigene Representative Sequence: NM_001113347
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000415912(uc001bej.2 uc001bei.2 uc001bek.2 uc010odl.1 uc001bem.2)
    ENST00000357071 ENST00000531334 ENST00000374893 ENST00000436918 ENST00000264205
    ENST00000526194(uc009vqa.1) ENST00000470394 ENST00000528294 ENST00000473505
    ENST00000481130 ENST00000527991 ENST00000463334
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat ECE1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ECE1 (see all 51):
    hsa-miR-194* hsa-miR-1197 hsa-miR-513a-5p hsa-miR-139-5p hsa-miR-128 hsa-miR-4267 hsa-miR-374c hsa-miR-124
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ECE1
    Clone
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    OriGene clones in human, mouse for ECE1 (see all 26)
    OriGene ORF clones in mouse, rat for ECE1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): ECE1 (NM_001113349)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ECE1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ECE1
    Primer
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    OriGene qPCR primer pairs and template standards for ECE1
    OriGene qSTAR qPCR primer pairs in human, mouse for ECE1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ECE1
      QuantiTect SYBR Green Assays in human, mouse, rat ECE1
      QuantiFast Probe-based Assays in human, mouse, rat ECE1

    Additional mRNA sequence: 

    AB031742.1 AJ130828.1 AK123231.1 AK290656.1 AK296486.1 AK304167.1 AK309677.1 BC023596.2 
    BC041647.1 BC053342.1 BC063506.1 BC077076.1 BC106022.1 BC117256.1 BC126257.1 BX648351.1 
    D43698.1 D49471.1 X98272.1 Z35307.1 

    23 DOTS entries:

    DT.95222718  DT.95323564  DT.101985083  DT.449339  DT.100798597  DT.100798591  DT.121331779  DT.92466279 
    DT.92065808  DT.100798593  DT.92407282  DT.75190386  DT.95296893  DT.95371472  DT.100684685  DT.100798592 
    DT.121331718  DT.121331726  DT.91804540  DT.92019130  DT.95132336  DT.99937968  DT.121331705 

    Selected AceView cDNA sequences (see all 429):

    CD514738 CD364951 BC023596 BQ005963 BG023787 AA233760 BF437033 AA912353 
    BM762445 AI631695 BU619094 AI434595 BQ712721 F37357 X98272 BG655927 
    BX474700 AA938115 CB853448 BU169830 CB117101 BQ423018 AB031742 BX648351 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ECE1 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c · 15d · 15e ^ 16 ^ 17 ^
    SP1:        -           -     -                                                                 -                       -                       -               
    SP2:                                                                                            -                       -                       -               
    SP3:                    -     -                                                                                                                                 
    SP4:                                                                                                                                            -               
    SP5:                          -                                                                                                                                 

    ExUns: 18 ^ 19a · 19b ^ 20a · 20b · 20c
    SP1:        -                           
    SP2:        -                           
    SP3:                                    
    SP4:        -     -                     
    SP5:                                    


    ECgene alternative splicing isoforms for ECE1

    (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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    ECE1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTCAGGTCT
    ECE1 Expression
    About this image


    ECE1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad (Reproductive System)
             Testis Somatic Cells Primitive Gonad
    ECE1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ECE1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.195080

    UniProtKB/Swiss-Prot: ECE1_HUMAN, P42892
    Tissue specificity: All isoforms are expressed in umbilical vein endothelial cells, polynuclear neutrophils,
    fibroblasts, atrium cardiomyocytes and ventricles. Isoforms A, B and C are also expressed in placenta, lung,
    heart, adrenal gland and phaeochromocytoma; isoforms A and C in liver, testis and small intestine; isoform B, C
    and D in endothelial cells and umbilical vein smooth muscle cells; isoforms C and D in saphenous vein cells, and
    isoform C in kidney

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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 animals.

    Orthologs for ECE1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ece11 , 5 endothelin converting enzyme 11, 5 88.98(n)1
    95.88(a)1
      4 (70.02 cM)5
    2308571  NM_199307.21  NP_955011.11 
     1378622375 
    chicken
    (Gallus gallus)
    Aves ECE11 endothelin converting enzyme 1 78.65(n)
    82.96(a)
      395459  NM_204717.1  NP_990048.1 
    lizard
    (Anolis carolinensis)
    Reptilia ECE16
    endothelin converting enzyme 1
    65(a)
    1 ↔ 1
    AAWZ02037209(2177-18032)
    African clawed frog
    (Xenopus laevis)
    Amphibia ece1-prov2 Endothelin-converting enzyme 1 78.49(n)    BC046653.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ece11 endothelin converting enzyme 1 68(n)
    67.64(a)
      777750  NM_001077792.1  NP_001071260.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG62653
    Nep31
    endothelin-converting enzyme3
    Neprilysin 31
    48(a)
    (best of 15)3
    54.83(n)1
    46.19(a)1
      97E13
    330051  NM_001258847.11  NP_001245776.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T05A8.43 protease 36(a)
    (best of 10)
      II(2717612-2725538)   --


    ENSEMBL Gene Tree for ECE1 (if available)
    TreeFam Gene Tree for ECE1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ECE1 gene
    PHEX2  MME2  KEL2  ECE22  MMEL12  ECEL12  
    6 SIMAP similar genes for ECE1 using alignment to 5 protein entries:     ECE1_HUMAN (see all proteins):
    ECE2    MME    MMEL1    PHEX    ECEL1    KEL

    ECE1 for paralogs           About GeneDecksing



    (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 ECE1 (see all 2872)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs30269061,2,,4
    C,O,HHirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD)4 pathogenic121757762(-) ACTTCC/TGCTGC 8 R C mis1 ese37Minor allele frequency- T:0.00NS EA NA EU 1743
    rs1924768081,2
    --19918599(+) ACTCAC/G/TGGAGG 1 -- int10--------
    rs1150675801,2
    C,F--19918647(+) TGAAGG/CGGGGA 1 -- int11Minor allele frequency- C:0.04WA 118
    rs1479359161,2
    --19918689(+) CTGAAC/GGTCCA 1 -- int10--------
    rs1833618711,2
    --19918859(+) CACTCC/TACTTG 1 -- int10--------
    rs1875255501,2
    --19918902(+) GCTCCC/TGTTTT 1 -- int10--------
    rs2130071,2
    C,F,H--19918924(+) aatggG/Tgttca 1 -- int116Minor allele frequency- T:0.17NS EA NA WA CSA 752
    rs1489720041,2
    C--19918949(+) CTCACG/TGTACT 1 -- int10--------
    rs728706061,2
    C,F--19919121(+) AATGAC/GTGGAA 1 -- int12Minor allele frequency- G:0.07WA 120
    rs1147103571,2
    C,F--19919213(+) TCTCCT/GTAGGA 1 -- int11Minor allele frequency- G:0.02WA 118

    HapMap Linkage Disequilibrium report for ECE1 (21543740 - 21672034 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ECE1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1006358CNV Deletion20482838
    esv2109865CNV Deletion18987734
    nsv515620CNV Loss19592680
    esv23912CNV Loss19812545
    nsv871876CNV Loss21882294
    nsv871179CNV Loss21882294
    nsv870456CNV Gain21882294
    nsv834380CNV Gain17160897

    Human Gene Mutation Database (HGMD): ECE1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ECE1
    DNA2.0 Custom Variant and Variant Library Synthesis for ECE1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600423   
    OMIM disorders: 613870  145500  
    UniProtKB/Swiss-Prot: ECE1_HUMAN, P42892
  • Hirschsprung disease cardiac defects and autonomic dysfunction (HSCRCDAD) [MIM:613870]: A disorder
    characterized by skip-lesions Hirschsprung disease, craniofacial abnormalities and other dysmorphic features,
    cardiac defects including ductus arteriosus, small subaortic ventricular septal defect, small atrial septal
    defect, and autonomic dysfunction. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for ECE1 (see all 55):    
    About MalaCards
    ece1-related hirschsprung disease    hirschsprung disease, cardiac defects, and autonomic dysfunction    autonomic dysfunction    chronic rhinitis
    hirschsprung's disease    essential hypertension    doxorubicin induced cardiomyopathy    orthostatic intolerance
    diffuse astrocytoma    vascular dementia    phaeochromocytoma    hepatopulmonary syndrome
    congestive heart failure    sudden infant death syndrome    hypertension    atherosclerosis
    dilated cardiomyopathy    pharyngitis    sleep apnea    coronary artery disease

    2 diseases from the University of Copenhagen DISEASES database for ECE1:
    Hirschsprung's disease     Hypertension

    ECE1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for ECE1 gene (see all 43)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hirschsprung disease 55.5 4 9915973 (1), 17131407 (1), 15294878 (1)
    cerebral vasospasm 45.7 2 9254094 (1), 15279581 (1)
    heart failure 42.3 9 10217651 (2), 15085059 (1), 11082385 (1), 12193094 (1) (see all 8)
    hypertension pulmonary 40.6 4 9741571 (3)
    atherosclerosis 39.4 26 15320823 (3), 12028873 (2), 11514370 (2), 18997155 (2) (see all 11)
    cardiovascular diseases 38.8 11 9607404 (3), 9595398 (2), 10082746 (1), 12193062 (1) (see all 8)
    vasospasm 32.3 4 9254094 (2), 17164035 (1), 12187489 (1)
    preeclampsia 22 1 14572358 (1)
    renal failure 19.8 1 11334385 (1)
    animal diseases 18.3 4 15279581 (1), 11078330 (1)

    GeneTests: ECE1
    GeneReviews: ECE1
    Genetic Association Database (GAD): ECE1
    Human Genome Epidemiology (HuGE) Navigator: ECE1 (23 documents)

    Export disorders for ECE1 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 ECE1 gene, integrated from 10 sources (see all 348):
    (articles sorted by number of sources associating them with ECE1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and functional expression of human endothelin-converting enzyme cDNA. (PubMed id 7864876)1, 2, 3 Shimada K.... Tanzawa K. (Biochem. Biophys. Res. Commun. 1995)
    2. Molecular characterization of human and bovine endothelin converting enzyme (ECE-1). (PubMed id 7805846)1, 2, 3 Schmidt M.... Hillen H. (FEBS Lett. 1994)
    3. Endothelin-converting enzyme 1 degrades neuropeptides in endosomes to control receptor recycling. (PubMed id 17592116)1, 3, 9 Roosterman D....Steinhoff M. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    4. Risk of coronary artery disease as influenced by variants of the human endothelin and endothelin-converting enzyme genes. (PubMed id 17264805)1, 4, 9 BA1hler K....Cascorbi I. (Pharmacogenet. Genomics 2007)
    5. Human endothelin-converting enzyme (ECE-1): three isoforms with distinct subcellular localizations. (PubMed id 9396733)1, 2, 9 Schweizer A.... Loeffler B.-M. (Biochem. J. 1997)
    6. Polymorphism in endothelin-related genes limits exercise-induced decreases in arterial stiffness in older subjects. (PubMed id 16567585)1, 4, 9 Iemitsu M....Matsuda M. (Hypertension 2006)
    7. 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)
    8. Endothelin-converting enzyme-1 promoter polymorphisms and susceptibility to sporadic late-onset Alzheimer's disease in a Chinese population. (PubMed id 20037208)1, 4, 9 Jin Z....Xu Y. (Dis. Markers 2009)
    9. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. (PubMed id 15240857)1, 4, 9 Weese-Mayer D.E....Marazita M.L. (Pediatr. Res. 2004)
    10. Structure of human endothelin-converting enzyme I complexed with phosphoramidon. (PubMed id 18992253)1, 2, 9 Schulz H.... Oefner C. (J. Mol. Biol. 2009)

    (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: 1889 HGNC: 3146 AceView: ECE1 Ensembl:ENSG00000117298 euGenes: HUgn1889
    ECgene: ECE1 H-InvDB: ECE1

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for ECE1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ECE1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/tests/11470/
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ece1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ECE1 gene:
    Search GeneIP for patents involving ECE1

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



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