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

    Gene ID: 1889, updated on 3-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:3146
    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]
    Expression
    Ubiquitous expression in adrenal (RPKM 34.3), fat (RPKM 29.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ECE1 in Genome Data Viewer
    Location:
    1p36.12
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (21217250..21345504, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (21044316..21172559, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (21543743..21671997, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 4 gamma 3 Neighboring gene NFE2L2 motif-containing MPRA enhancer 38 Neighboring gene Sharpr-MPRA regulatory region 2723 Neighboring gene ribosomal protein S15a pseudogene 6 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:21394491-21394661 Neighboring gene MPRA-validated peak106 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 325 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 27 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:21544531-21544736 Neighboring gene MPRA-validated peak108 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21562319-21562819 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:21587933-21589132 Neighboring gene uncharacterized LOC124903872 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21591626-21592452 Neighboring gene Sharpr-MPRA regulatory region 15718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21600579-21601078 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21603224-21604202 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr1:21604203-21605179 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21610131-21610992 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21615400-21615961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 377 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 378 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:21620661-21621860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 326 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21623064-21623668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21633717-21634404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21637234-21637788 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:21641652-21642441 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21643535-21644352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21644353-21645170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21645989-21646806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21648477-21649296 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21650210-21650770 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:21654133-21654691 Neighboring gene ECE1 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:21655565-21656222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21664994-21665936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 330 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 379 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21682211-21682712 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:21682713-21683212 Neighboring gene PDE4DIP pseudogene 10 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 11 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Cisplatin-resistance and aggressiveness are enhanced by a highly stable endothelin-converting enzyme-1c in lung cancer cells.
      Title: Cisplatin-resistance and aggressiveness are enhanced by a highly stable endothelin-converting enzyme-1c in lung cancer cells.
    2. Mutation analysis of the ECE1 gene in late-onset Alzheimer's disease.
      Title: Mutation analysis of the ECE1 gene in late-onset Alzheimer's disease.
    3. CircECE1 promotes osteosarcoma progression through regulating RAB3D by sponging miR-588.
      Title: CircECE1 promotes osteosarcoma progression through regulating RAB3D by sponging miR-588.
    4. CircNDC80 promotes glioblastoma multiforme tumorigenesis via the miR-139-5p/ECE1 pathway.
      Title: CircNDC80 promotes glioblastoma multiforme tumorigenesis via the miR-139-5p/ECE1 pathway.
    5. Association of Endothelin-Converting Enzyme and Endothelin-1 Gene Polymorphisms with Essential Hypertension in Malay Ethnics.
      Title: Association of Endothelin-Converting Enzyme and Endothelin-1 Gene Polymorphisms with Essential Hypertension in Malay Ethnics.
    6. Effects of ECE-1b rs213045 and rs2038089 polymorphisms on the development of contrast-induced acute kidney injury in patients with acute coronary syndrome.
      Title: Effects of ECE-1b rs213045 and rs2038089 polymorphisms on the development of contrast-induced acute kidney injury in patients with acute coronary syndrome.
    7. Association of ECE1 gene polymorphisms and essential hypertension risk in the Northern Han Chinese: A case-control study.
      Title: Association of ECE1 gene polymorphisms and essential hypertension risk in the Northern Han Chinese: A case-control study.
    8. Endothelin-converting enzyme-1c promotes stem cell traits and aggressiveness in colorectal cancer cells.
      Title: Endothelin-converting enzyme-1c promotes stem cell traits and aggressiveness in colorectal cancer cells.
    9. The role of Candida albicans candidalysin ECE1 gene in oral carcinogenesis.
      Title: The role of Candida albicans candidalysin ECE1 gene in oral carcinogenesis.
    10. Placental endothelin-converting enzyme-1 is decreased in preeclampsia.
      Title: Placental endothelin-converting enzyme-1 is decreased in preeclampsia.
    Submit: New GeneRIF Correction See all GeneRIFs (83)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Essential hypertension, genetic
    MedGen: CN305331 OMIM: 145500 GeneReviews: Not available
    		not available
    Hirschsprung disease, cardiac defects, and autonomic dysfunction
    MedGen: C3151237 OMIM: 613870 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metalloendopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
    		  
    enables peptide hormone binding IC
    Inferred by Curator
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		  
    involved_in axonogenesis involved in innervation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in bradykinin catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in calcitonin catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ear development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in embryonic heart tube development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endothelin maturation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in hormone catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in peptide hormone processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in peptide hormone processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pharyngeal system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of receptor recycling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of systemic arterial blood pressure by endothelin IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in regulation of vasoconstriction IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in semaphorin-plexin signaling pathway involved in axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in substance P catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sympathetic neuron axon guidance IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Weibel-Palade body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in lysosomal membrane HDA PubMed 
    located_in membrane HDA PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    endothelin-converting enzyme 1
    Names
    ECE-1
    NP_001106818.1
    NP_001106819.1
    NP_001106820.1
    NP_001388.1
    XP_006710461.1
    XP_011539174.1
    XP_011539175.1
    XP_047304052.1
    XP_054190788.1
    XP_054190789.1
    XP_054190790.1
    XP_054190791.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_013008.2 RefSeqGene

      Range
      60079..133292
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001113347.2 → NP_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/TrEMBL
      B4DKB2
      Related
      ENSP00000349581.4, ENST00000357071.8
      Conserved Domains (2) summary
      cd08662
      Location:107 → 756
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:94 → 749
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    2. NM_001113348.2 → NP_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/TrEMBL
      B4DKB2
      Related
      ENSP00000405088.2, ENST00000415912.6
      Conserved Domains (2) summary
      cd08662
      Location:103 → 752
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:90 → 745
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    3. NM_001113349.2 → NP_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/TrEMBL
      B4DKB2
      Related
      ENSP00000264205.6, ENST00000264205.10
      Conserved Domains (2) summary
      cd08662
      Location:116 → 765
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:103 → 758
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    4. NM_001397.3 → NP_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
      A8K3P1, B4E291, P42892, Q14217, Q17RN5, Q2Z2K8, Q58GE7, Q5THM5, Q5THM7, Q5THM8, Q9UJQ6, Q9UPF4, Q9UPM4, Q9Y501
      UniProtKB/TrEMBL
      B4DKB2
      Related
      ENSP00000364028.6, ENST00000374893.11
      Conserved Domains (2) summary
      cd08662
      Location:119 → 768
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:106 → 761
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      21217250..21345504 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011540873.3 → XP_011539175.1  endothelin-converting enzyme 1 isoform X2

      See identical proteins and their annotated locations for XP_011539175.1

      UniProtKB/TrEMBL
      B4DKB2
      Conserved Domains (2) summary
      cd08662
      Location:102 → 751
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:89 → 744
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    2. XM_011540872.3 → XP_011539174.1  endothelin-converting enzyme 1 isoform X1

      UniProtKB/TrEMBL
      B4DKB2
      Conserved Domains (2) summary
      cd08662
      Location:127 → 776
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:114 → 769
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    3. XM_047448096.1 → XP_047304052.1  endothelin-converting enzyme 1 isoform X2

    4. XM_006710398.3 → XP_006710461.1  endothelin-converting enzyme 1 isoform X2

      See identical proteins and their annotated locations for XP_006710461.1

      UniProtKB/TrEMBL
      B4DKB2
      Conserved Domains (2) summary
      cd08662
      Location:102 → 751
      M13; Peptidase family M13 includes neprilysin, endothelin-converting enzyme I
      COG3590
      Location:89 → 744
      PepO; Predicted metalloendopeptidase [Posttranslational modification, protein turnover, chaperones]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      21044316..21172559 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334816.1 → XP_054190791.1  endothelin-converting enzyme 1 isoform X2

    2. XM_054334813.1 → XP_054190788.1  endothelin-converting enzyme 1 isoform X1

    3. XM_054334814.1 → XP_054190789.1  endothelin-converting enzyme 1 isoform X2

    4. XM_054334815.1 → XP_054190790.1  endothelin-converting enzyme 1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P42892.2 GenPept UniProtKB/Swiss-Prot:P42892

    Gene LinkOut

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