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

    Gene ID: 230857, updated on 2-Nov-2024

    Summary

    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 active in plasma membrane. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and retina. 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, Nov 2024]
    Expression
    Ubiquitous expression in lung adult (RPKM 40.8), adrenal adult (RPKM 30.1) and 27 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • Project title: Mouse ENCODE transcriptome data 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (4)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloendopeptidase 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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bradykinin catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcitonin catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcitonin catabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ear development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ear development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    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
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in external side of plasma membrane IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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

    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)

    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.

    mRNA and Protein(s)

    1. NM_001369177.1NP_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:118767
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
    2. NM_001369178.1NP_001356107.1  endothelin-converting enzyme 1 isoform b

      Status: VALIDATED

      Source sequence(s)
      AK163790, AL807764
      Conserved Domains (1) summary
      cd08662
      Location:107756
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
    3. NM_001369179.1NP_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:102751
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I
    4. NM_199307.2NP_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:102751
      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)