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

Gene ID: 13599, updated on 3-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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See Ecel1 in Genome Data Viewer
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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