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    ECE1 endothelin converting enzyme 1 [ Homo sapiens (human) ]

    Gene ID: 1889, updated on 20-Apr-2017
    Official Symbol
    ECE1provided by HGNC
    Official Full Name
    endothelin converting enzyme 1provided by HGNC
    Primary source
    HGNC:HGNC:3146
    See related
    Ensembl:ENSG00000117298 MIM:600423; Vega:OTTHUMG00000002625
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ECE
    Summary
    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]
    Orthologs
    Location:
    1p36.12
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (21217247..21345541, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (21543740..21672034, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4 gamma 3 Neighboring gene ribosomal protein S15a pseudogene 6 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 27 Neighboring gene uncharacterized LOC100506801 Neighboring gene phosphodiesterase 4D interacting protein pseudogene Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 11 pseudogene 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Essential hypertension
    MedGen: C0085580 OMIM: 145500 GeneReviews: Not available
    Compare labs
    Hirschsprung disease, cardiac defects, and autonomic dysfunction
    MedGen: C3151237 OMIM: 613870 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
      Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
    • Corticotropin-releasing hormone signaling pathway, organism-specific biosystem (from WikiPathways)
      Corticotropin-releasing hormone signaling pathway, organism-specific biosystemCorticotropin-releasing hormone (CRH) is a neuropeptide secreted abundantly in the paraventricular nucleus of the hypothalamus, amygdala, cerebral cortex and cerebellum in the central nervous system ...
    • Endothelin Pathways, organism-specific biosystem (from WikiPathways)
      Endothelin Pathways, organism-specific biosystemEndothelin-1 is a bicyclic 21 amino acid peptide, produced primarily in the endothelium. It is a potent stimulus of long-lasting and persistent vasoconstriction. It also has a role as a stimulus of i...
    • GPCR ligand binding, organism-specific biosystem (from REACTOME)
      GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
    • Melatonin metabolism and effects, organism-specific biosystem (from WikiPathways)
      Melatonin metabolism and effects, organism-specific biosystemMelatonin is an important regulator of circadian rythmus and influences also insulin secretion, immune function, retinal function and neuroprotection. The synthesis starts with the amino acid tryptop...
    • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
      Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by GPCR, organism-specific biosystem (from REACTOME)
      Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
    • Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
      Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metalloendopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
     
    peptide hormone binding IC
    Inferred by Curator
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    bradykinin catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcitonin catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ear development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endothelin maturation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    hormone catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptide hormone processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pharyngeal system development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of receptor recycling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein processing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of systemic arterial blood pressure by endothelin IC
    Inferred by Curator
    more info
    PubMed 
    regulation of vasoconstriction IC
    Inferred by Curator
    more info
    PubMed 
    substance P catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    Weibel-Palade body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intrinsic component of endosome membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Preferred Names
    endothelin-converting enzyme 1
    Names
    ECE-1
    NP_001106818.1
    NP_001106819.1
    NP_001106820.1
    NP_001388.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013008.1 RefSeqGene

      Range
      5001..133295
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001113347.1NP_001106818.1  endothelin-converting enzyme 1 isoform 3

      See identical proteins and their annotated locations for NP_001106818.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding region, compared to variant 1, resulting in a shorter protein (isoform 3 also known as isoform a) that has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AL031005, BC106022, BP234532, BU733112, D43698
      Consensus CDS
      CCDS44083.1
      UniProtKB/Swiss-Prot
      P42892
      UniProtKB/TrEMBL
      A0A024RAB0
      Related
      ENSP00000349581.4, OTTHUMP00000002726, ENST00000357071.8, OTTHUMT00000007473
      Conserved Domains (2) summary
      cd08662
      Location:107756
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:94749
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    2. NM_001113348.1NP_001106819.1  endothelin-converting enzyme 1 isoform 4

      See identical proteins and their annotated locations for NP_001106819.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding region, compared to variant 1, resulting in a shorter protein (isoform 4 also known as isoform c) that has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AB031742, AL031005, AL031728, BC106022, BU733112, DB290492
      Consensus CDS
      CCDS44081.1
      UniProtKB/Swiss-Prot
      P42892
      Related
      ENSP00000405088.2, OTTHUMP00000002724, ENST00000415912.6, OTTHUMT00000007469
      Conserved Domains (2) summary
      cd08662
      Location:103752
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:90745
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    3. NM_001113349.1NP_001106820.1  endothelin-converting enzyme 1 isoform 2

      See identical proteins and their annotated locations for NP_001106820.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region, compared to variant 1, resulting in a shorter protein (isoform 2 also known as isoform d) that has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AJ130828, AL031005, BC106022, BP337331, BU733112, CN298523, CN298525, DA436879, DA445355, DA445401
      Consensus CDS
      CCDS44082.1
      UniProtKB/Swiss-Prot
      P42892
      UniProtKB/TrEMBL
      A0A024RAB2
      Related
      ENSP00000264205.6, OTTHUMP00000235323, ENST00000264205.10, OTTHUMT00000007474
      Conserved Domains (2) summary
      cd08662
      Location:116765
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:103758
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    4. NM_001397.2NP_001388.1  endothelin-converting enzyme 1 isoform 1

      See identical proteins and their annotated locations for NP_001388.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest protein (isoform 1 also known as isoform b).
      Source sequence(s)
      AL031005, BC106022, BC117256, BU733112, Z35307
      Consensus CDS
      CCDS215.1
      UniProtKB/Swiss-Prot
      P42892
      UniProtKB/TrEMBL
      A0A024RAF7
      Related
      ENSP00000364028.6, OTTHUMP00000002725, ENST00000374893.10, OTTHUMT00000007470
      Conserved Domains (2) summary
      cd08662
      Location:119768
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:106761
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      21217247..21345541 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540873.2XP_011539175.1  endothelin-converting enzyme 1 isoform X2

      See identical proteins and their annotated locations for XP_011539175.1

      UniProtKB/Swiss-Prot
      P42892
      Conserved Domains (2) summary
      cd08662
      Location:102751
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:89744
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    2. XM_011540872.2XP_011539174.1  endothelin-converting enzyme 1 isoform X1

      Conserved Domains (2) summary
      cd08662
      Location:127776
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:114769
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    3. XM_017000511.1XP_016856000.1  endothelin-converting enzyme 1 isoform X2

      UniProtKB/Swiss-Prot
      P42892
      Conserved Domains (2) summary
      cd08662
      Location:102751
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:89744
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]
    4. XM_006710398.2XP_006710461.1  endothelin-converting enzyme 1 isoform X2

      See identical proteins and their annotated locations for XP_006710461.1

      UniProtKB/Swiss-Prot
      P42892
      Conserved Domains (2) summary
      cd08662
      Location:102751
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:89744
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      21655386..21783707 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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