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Ece1 endothelin converting enzyme 1 [ Mus musculus (house mouse) ]

Gene ID: 230857, updated on 11-Apr-2024

Summary

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Official Symbol
Ece1provided by MGI
Official Full Name
endothelin converting enzyme 1provided by MGI
Primary source
MGI:MGI:1101357
See related
Ensembl:ENSMUSG00000057530 AllianceGenome:MGI:1101357
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ECE-1; ECE-1a; ECE-1b; ECE-1d; ECE-1c1
Summary
Predicted to enable metalloendopeptidase activity; protein homodimerization activity; and zinc ion binding activity. Involved in axonogenesis; embryonic heart tube development; and gene expression. Acts upstream of or within pharyngeal system development. Predicted to be located in several cellular components, including cytoplasmic vesicle; external side of plasma membrane; and perinuclear region of cytoplasm. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; male reproductive gland or organ; respiratory system; and sensory organ. Used to study double outlet right ventricle. Human ortholog(s) of this gene implicated in Alzheimer's disease; congestive heart failure; coronary artery disease; essential hypertension; and hypertension. Orthologous to human ECE1 (endothelin converting enzyme 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lung adult (RPKM 40.8), adrenal adult (RPKM 30.1) and 27 other tissues See more
Orthologs
human all
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Genomic context

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See Ece1 in Genome Data Viewer
Location:
4 D3; 4 70.02 cM
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (137589548..137692540)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (137862237..137965229)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_11793 Neighboring gene STARR-positive B cell enhancer ABC_E4691 Neighboring gene alkaline phosphatase, liver/bone/kidney Neighboring gene STARR-seq mESC enhancer starr_11795 Neighboring gene predicted gene, 32079 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:137411929-137412112 Neighboring gene STARR-positive B cell enhancer ABC_E6240 Neighboring gene STARR-seq mESC enhancer starr_11797 Neighboring gene predicted gene 13012 Neighboring gene predicted gene, 52683 Neighboring gene STARR-positive B cell enhancer mm9_chr4:137508798-137509099 Neighboring gene CapStarr-seq enhancer MGSCv37_chr4:137524336-137524519 Neighboring gene STARR-positive B cell enhancer mm9_chr4:137549212-137549513 Neighboring gene STARR-seq mESC enhancer starr_11798 Neighboring gene eukaryotic translation initiation factor 4 gamma, 3 Neighboring gene STARR-positive B cell enhancer ABC_E6242 Neighboring gene RIKEN cDNA 1700095J12 gene Neighboring gene microRNA 6399

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Endothelin converting enzyme-1 (ECE-1) deletion in association with Endothelin-1 downregulation ameliorates kidney fibrosis in mice. Arfian N, et al. Life Sci, 2020 Oct 1. PMID 32768584
  2. Congenic Strains Confirm the Pleiotropic Effect of Chromosome 4 QTL on Mouse Femoral Geometry and Biomechanical Performance. Kristianto J, et al. PLoS One, 2016. PMID 26849124, Free PMC Article
  3. Blood pressure, artery size, and artery compliance parallel bone size and strength in mice with differing ece1 expression. Wang Z, et al. J Biomech Eng, 2013 Jun. PMID 23699715, Free PMC Article
  4. Adeno-associated viral (AAV) serotype 5 vector mediated gene delivery of endothelin-converting enzyme reduces Abeta deposits in APP + PS1 transgenic mice. Carty NC, et al. Mol Ther, 2008 Sep. PMID 18665160, Free PMC Article
  5. Genomic organisation of the mouse gene encoding endothelin-converting enzyme-1 (ECE-1) and mRNA expression of ECE-1 isoforms in murine tissues. Lindenau S, et al. Gene, 2006 May 24. PMID 16540265

See all (65) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A non-canonical role of endothelin converting enzyme 1 (ECE1) in promoting lung cancer development via directly targeting protein kinase B (AKT).
    Title: A non-canonical role of endothelin converting enzyme 1 (ECE1) in promoting lung cancer development via directly targeting protein kinase B (AKT).
  2. Endothelin converting enzyme-1 (ECE-1) deletion in association with Endothelin-1 downregulation ameliorates kidney fibrosis in mice.
    Title: Endothelin converting enzyme-1 (ECE-1) deletion in association with Endothelin-1 downregulation ameliorates kidney fibrosis in mice.
  3. Expression of ECE1 suppressed dopamine neuron loss and alleviated the corresponding motor deficits.
    Title: A stress-enhanced model for discovery of disease-modifying gene: Ece1-suppresses the toxicity of α-synuclein A30P.
  4. It is a amyloid beta degrading enzyme and is expressed by distinct populations of GABAergic interneurons in hippocampus and neocortex.
    Title: Major amyloid-β-degrading enzymes, endothelin-converting enzyme-2 and neprilysin, are expressed by distinct populations of GABAergic interneurons in hippocampus and neocortex.
  5. The cardiac expression of prepro-endothelin-1 mRNA, endothelin-converting enzyme-1 mRNA, and protein and endothelin receptors A and B mRNA was increased in 18-week-old obese C57BL/6 mice compared to animals with normal weight
    Title: Increased gene expression of the cardiac endothelin system in obese mice.
  6. identify the neural peptidase ECE-1 as a negative regulator of itch on sensory nerves by directly regulating ET-1-induced pruritus
    Title: Neural peptidase endothelin-converting enzyme 1 regulates endothelin 1-induced pruritus.
  7. differences in hemodynamic adn ece1 expression between HcB-8 and HcB-23 arteries
    Title: Blood pressure, artery size, and artery compliance parallel bone size and strength in mice with differing ece1 expression.
  8. Endothelin-converting enzyme-1 gene ablation attenuates pulmonary fibrosis via CGRP-cAMP/EPAC1 pathway.
    Title: Endothelin-converting enzyme-1 gene ablation attenuates pulmonary fibrosis via CGRP-cAMP/EPAC1 pathway.
  9. involved in the physiological degradation of atrial natriuretic peptide
    Title: Physiological relevance of hydrolysis of atrial natriuretic peptide by endothelin-converting enzyme-1.
  10. Endosomal endothelin-converting enzyme-1 is a regulator of beta-arrestin-dependent ERK signaling
    Title: Endosomal endothelin-converting enzyme-1: a regulator of beta-arrestin-dependent ERK signaling.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

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 MGI

Function Evidence Code Pubs
enables endopeptidase activity ISO
Inferred from Sequence Orthology
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables metallopeptidase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
enables protein homodimerization activity ISO
Inferred from Sequence Orthology
more info
  
enables zinc ion binding ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in axon guidance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in axonogenesis involved in innervation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in blood vessel diameter maintenance ISO
Inferred from Sequence Orthology
more info
  
involved_in bradykinin catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in calcitonin catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in ear development ISO
Inferred from Sequence Orthology
more info
  
involved_in embryonic digit morphogenesis ISO
Inferred from Sequence Orthology
more info
  
involved_in embryonic heart tube development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in endothelin maturation ISO
Inferred from Sequence Orthology
more info
  
involved_in gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in heart development ISO
Inferred from Sequence Orthology
more info
  
involved_in hormone catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in neuron projection development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in peptide hormone processing IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peptide hormone processing ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within peptide hormone processing ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
acts_upstream_of_or_within pharyngeal system development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of G protein-coupled receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of cAMP-mediated signaling ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of cardiac muscle hypertrophy ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of receptor recycling ISO
Inferred from Sequence Orthology
more info
  
involved_in protein processing ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within proteolysis IEA
Inferred from Electronic Annotation
more info
  
involved_in proteolysis IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of ERK1 and ERK2 cascade ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of blood pressure ISO
Inferred from Sequence Orthology
more info
  
involved_in response to hypoxia ISO
Inferred from Sequence Orthology
more info
  
involved_in semaphorin-plexin signaling pathway involved in axon guidance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in substance P catabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in sympathetic neuron axon guidance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in Weibel-Palade body ISO
Inferred from Sequence Orthology
more info
  
located_in cell surface ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
  
located_in endosome ISO
Inferred from Sequence Orthology
more info
  
located_in external side of plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in membrane ISO
Inferred from Sequence Orthology
more info
  
located_in perinuclear region of cytoplasm ISO
Inferred from Sequence Orthology
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
located_in secretory granule ISO
Inferred from Sequence Orthology
more info
  
located_in vesicle ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
endothelin-converting enzyme 1
Names
endothelin-converting enzyme-1a
endothelin-converting enzyme-1b
endothelin-converting enzyme-1c1
endothelin-converting enzyme-1d
NP_001356106.1
NP_001356107.1
NP_001356108.1
NP_955011.1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001369177.1 → NP_001356106.1  endothelin-converting enzyme 1 isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AL807764
    UniProtKB/Swiss-Prot
    B1AXF9, Q4PZ99, Q4PZA1, Q4PZA2, Q6P9Q9
    Conserved Domains (1) summary
    cd08662
    Location:118 → 767
    M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

  2. NM_001369178.1 → NP_001356107.1  endothelin-converting enzyme 1 isoform b

    Status: VALIDATED

    Source sequence(s)
    AK163790, AL807764
    Conserved Domains (1) summary
    cd08662
    Location:107 → 756
    M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

  3. NM_001369179.1 → NP_001356108.1  endothelin-converting enzyme 1 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variant 3, encodes isoform c.
    Source sequence(s)
    AL807764
    Consensus CDS
    CCDS18822.1
    UniProtKB/TrEMBL
    A0A183ZRM3
    Conserved Domains (1) summary
    cd08662
    Location:102 → 751
    M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

  4. NM_199307.2 → NP_955011.1  endothelin-converting enzyme 1 isoform c

    See identical proteins and their annotated locations for NP_955011.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3), as well as variant 4, encodes isoform c.
    Source sequence(s)
    AK134088, BC060648, BG083532, BQ749244
    Consensus CDS
    CCDS18822.1
    UniProtKB/TrEMBL
    A0A183ZRM3
    Related
    ENSMUSP00000099576.4, ENSMUST00000102518.10
    Conserved Domains (1) summary
    cd08662
    Location:102 → 751
    M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    137589548..137692540
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q4PZA2.1 GenPept UniProtKB/Swiss-Prot:Q4PZA2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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