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

Gene ID: 1889, updated on 7-Apr-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
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Genomic context

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Location:
1p36.12
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (21217250..21345504, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (21044316..21172559, complement)
105.20220307 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
  • 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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Related articles in PubMed

  1. Placental endothelin-converting enzyme-1 is decreased in preeclampsia. McCormick A, et al. Pregnancy Hypertens, 2020 Apr. PMID 32278308, Free PMC Article
  2. The role of Candida albicans candidalysin ECE1 gene in oral carcinogenesis. Engku Nasrullah Satiman EAF, et al. J Oral Pathol Med, 2020 Oct. PMID 32170981
  3. Association of ECE1 gene polymorphisms and essential hypertension risk in the Northern Han Chinese: A case-control study. Wang H, et al. Mol Genet Genomic Med, 2020 Apr. PMID 32107880, Free PMC Article
  4. Endothelin-converting enzyme-1c promotes stem cell traits and aggressiveness in colorectal cancer cells. Pérez-Moreno P, et al. Mol Oncol, 2020 Feb. PMID 31788944, Free PMC Article
  5. Effects of ECE-1b rs213045 and rs2038089 polymorphisms on the development of contrast-induced acute kidney injury in patients with acute coronary syndrome. Dalgic SN, et al. J Int Med Res, 2020 Mar. PMID 31777301, Free PMC Article

See all (150) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. CircECE1 promotes osteosarcoma progression through regulating RAB3D by sponging miR-588.
    Title: CircECE1 promotes osteosarcoma progression through regulating RAB3D by sponging miR-588.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. The role of Candida albicans candidalysin ECE1 gene in oral carcinogenesis.
    Title: The role of Candida albicans candidalysin ECE1 gene in oral carcinogenesis.
  9. Placental endothelin-converting enzyme-1 is decreased in preeclampsia.
    Title: Placental endothelin-converting enzyme-1 is decreased in preeclampsia.
  10. current evidence suggests that ECE-1c contributes to cancer aggressiveness and plays a putative role as a key regulator of cancer progression.
    Title: Endothelin-converting enzyme-1 in cancer aggressiveness.
Submit: New GeneRIF Correction See all GeneRIFs (82)

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
Compare labs
Hirschsprung disease, cardiac defects, and autonomic dysfunction
MedGen: C3151237 OMIM: 613870 GeneReviews: Not available
Compare labs

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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 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 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_2023_10

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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