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FLASH GENE
Symbol ECEL1 contributors: mct - updated : 14-02-2013
HGNC name endothelin converting enzyme-like 1
HGNC id 3147
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • prenyl group binding site (CAAX box)
  • short cytosolic domains
  • large extracellular domains containing the active site
    • conjugated MetalloP
    HOMOLOGY
    intraspecies homolog to ECE1
    Homologene
    FAMILY neutral endopeptidase related family, neprilysin family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • playing a critical role in the nervous regulation of the respiratory system
  • might play an important role in embryonic neural development, in particular in peripheral ganglia derived from the neural crest, and in some neurons originating from the basal plate such as the hypothalamus and cranial motor neurons
  • is a crucial molecule in distal axonal arborization into muscle to establish neuromuscular junctions
    • CELLULAR PROCESS protein, degradation
    PHYSIOLOGICAL PROCESS respiration
    PATHWAY
    metabolism metal
    signaling
    zinc metalloproteinase
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    zinc Zn2+
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AMCD5D
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Dine-deficient mice died of respiratory failure resulting from a dysfunction of the diaphragm, which showed severe atrophy