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    Ecel1 endothelin converting enzyme-like 1 [ Mus musculus (house mouse) ]

    Gene ID: 13599, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Ecel1provided by MGI
    Official Full Name
    endothelin converting enzyme-like 1provided by MGI
    Primary source
    MGI:MGI:1343461
    See related
    Ensembl:ENSMUSG00000026247 AllianceGenome:MGI:1343461
    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
    xce; DINE
    Summary
    Enables metalloendopeptidase activity. Involved in respiratory system process. Predicted to be integral component of plasma membrane. Predicted to be active in plasma membrane. Is expressed in cap mesenchyme; central nervous system; and retina. Used to study distal arthrogryposis. Human ortholog(s) of this gene implicated in distal arthrogryposis type 5D. Orthologous to human ECEL1 (endothelin converting enzyme like 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in whole brain E14.5 (RPKM 6.2), CNS E14 (RPKM 4.5) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    1 C5; 1 44.06 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (87070596..87084867, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (87142874..87157085, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene 29371 Neighboring gene alkaline phosphatase, intestinal Neighboring gene alkaline phosphatase 3, intestine, not Mn requiring Neighboring gene predicted gene, 51638 Neighboring gene predicted gene, 33292 Neighboring gene STARR-seq mESC enhancer starr_01605 Neighboring gene serine protease 56 Neighboring gene cholinergic receptor, nicotinic, delta polypeptide

    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. New Insights of a Neuronal Peptidase DINE/ECEL1: Nerve Development, Nerve Regeneration and Neurogenic Pathogenesis. Kiryu-Seo S, et al. Neurochem Res, 2019 Jun. PMID 30357652
    2. Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders. Nagata K, et al. Acta Neuropathol Commun, 2017 Nov 13. PMID 29132416, Free PMC Article
    3. Damage-induced neuronal endopeptidase (DINE) enhances axonal regeneration potential of retinal ganglion cells after optic nerve injury. Kaneko A, et al. Cell Death Dis, 2017 Jun 1. PMID 28569783, Free PMC Article
    4. A Schwanncentric View of Axon Arborization in Neuromuscular Junction (NMJ) Formation. Hughes AN, et al. J Neurosci, 2016 Sep 21. PMID 27656015, Free PMC Article
    5. Damage-induced neuronal endopeptidase (DINE) is a unique metallopeptidase expressed in response to neuronal damage and activates superoxide scavengers. Kiryu-Seo S, et al. Proc Natl Acad Sci U S A, 2000 Apr 11. PMID 10759559, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study demonstrated that the ECEL1/DINE G607S and C760R mutations both lead to motor innervation defects as primary causes in ECEL1-mutated congenital contracture disorders.
      Title: Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.
    2. DINE is expressed in cranial and spinal motor neurons both embryonically and after CNS injury
      Title: A Schwanncentric View of Axon Arborization in Neuromuscular Junction (NMJ) Formation.
    3. DINE enhances axonal regeneration potential of retinal ganglion cells after optic nerve injury.
      Title: Damage-induced neuronal endopeptidase (DINE) enhances axonal regeneration potential of retinal ganglion cells after optic nerve injury.
    4. Using two different DINE mutant mice, study found that DINE functional disruption leads to impaired axonal arborization of motor nerves in limb muscles.
      Title: ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis.
    5. The data of this study suggested that DINE is a crucial molecule in distal axonal arborization into muscle to establish neuromuscular junctions.
      Title: Damage-induced neuronal endopeptidase is critical for presynaptic formation of neuromuscular junctions.
    6. Sp1 recruits ATF3, c-Jun, and STAT3 to obtain the requisite synergistic effect in neuronal injury through DINE neuronal injury-inducible gene
      Title: Neuronal injury-inducible gene is synergistically regulated by ATF3, c-Jun, and STAT3 through the interaction with Sp1 in damaged neurons.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

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

    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 hydrolase activity IEA
    Inferred from Electronic Annotation
    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 metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metallopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in intracellular signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neuropeptide signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein processing IBA
    Inferred from Biological aspect of Ancestor
    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 respiratory system process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    endothelin-converting enzyme-like 1
    Names
    damage-induced neuronal endopeptidase
    NP_001264854.1
    NP_001407080.1
    NP_001407081.1
    NP_067281.2

    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_001277925.2 → NP_001264854.1  endothelin-converting enzyme-like 1

      See identical proteins and their annotated locations for NP_001264854.1

      Status: VALIDATED

      Source sequence(s)
      AC102611
      Consensus CDS
      CCDS15128.1
      UniProtKB/Swiss-Prot
      Q6PFG4, Q9JMI0
      UniProtKB/TrEMBL
      Q3TX93
      Related
      ENSMUSP00000125557.2, ENSMUST00000160810.2
      Conserved Domains (1) summary
      cd08662
      Location:121 → 773
      M13; Peptidase family M13 includes neprilysin and endothelin-converting enzyme I

    2. NM_001420151.1 → NP_001407080.1  endothelin-converting enzyme-like 1

      Status: VALIDATED

      Source sequence(s)
      AC102611
      UniProtKB/Swiss-Prot
      Q6PFG4, Q9JMI0

    3. NM_001420152.1 → NP_001407081.1  endothelin-converting enzyme-like 1

      Status: VALIDATED

      Source sequence(s)
      AC102611
      UniProtKB/Swiss-Prot
      Q6PFG4, Q9JMI0

    4. NM_021306.4 → NP_067281.2  endothelin-converting enzyme-like 1

      See identical proteins and their annotated locations for NP_067281.2

      Status: VALIDATED

      Source sequence(s)
      AC102611
      Consensus CDS
      CCDS15128.1
      UniProtKB/Swiss-Prot
      Q6PFG4, Q9JMI0
      UniProtKB/TrEMBL
      Q3TX93
      Related
      ENSMUSP00000125096.2, ENSMUST00000161002.8
      Conserved Domains (1) summary
      cd08662
      Location:121 → 773
      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_000067.7 Reference GRCm39 C57BL/6J

      Range
      87070596..87084867 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001780293.3 RNA Sequence

    2. XR_001780275.3 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9JMI0.2 GenPept UniProtKB/Swiss-Prot:Q9JMI0

    Gene LinkOut

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

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