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FLASH GENE
Symbol ECEL1 contributors: mct - updated : 14-02-2013
HGNC name endothelin converting enzyme-like 1
HGNC id 3147
Corresponding disease
AMCD5D arthrogryposis type 5D distal
Location 2q37.1      Physical location : 233.344.536 - 233.352.532
Synonym name
  • X converting enzyme
  • Damage-induced neuronal endopeptidase
  • Synonym symbol(s) XCE, ECEX, DINE
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text double duplication
    STRUCTURE 7.99 kb     18 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - FAM6A - ALPPP - ECEL1P3 - ALPP - ECEL1P2 - ALPPL2 - ECEL1P1 - FAM6B - ALPI - ECEL1 - CHRND - CHRNG - qter
    Authors Rump (01)
    Physical map
    MGC43122 2q37.1 hypothetical protein MGC43122 GPR66 2q37.1 G protein-coupled receptor 66 LOC391490 2 similar to 60S ribosomal protein L23a MGC35154 2q37.1 hypothetical protein MGC35154 MGC4771 2q37.1 hypothetical protein MGC4771 PTMA 2q36-q36 prothymosin, alpha (gene sequence 28) PDE6D 2q36 phosphodiesterase 6D, cGMP-specific, rod, delta COPS7B 2q36.2 COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) LOC391491 2 similar to guanidinoacetate methyltransferase; GAMT NPPC 2q24-qter natriuretic peptide precursor C MGC42174 2q37.1 hypothetical protein MGC42174 ALPP 2q37.1 alkaline phosphatase, placental (Regan isozyme) ALPPL2 2q37 alkaline phosphatase, placental-like 2 LOC391492 2 similar to xce ALPI 2q37.1 alkaline phosphatase, intestinal ECEL1 2q36-q37 endothelin converting enzyme-like 1 LOC389083 2 similar to enterokinase CHRND 2q37 cholinergic receptor, nicotinic, delta polypeptide CHRNG 2q37.1-q37.2 cholinergic receptor, nicotinic, gamma polypeptide TIGD1 2q36.1 tigger transposable element derived 1 EIF4EL3 2q37.3 eukaryotic translation initiation factor 4E-like 3 FLJ13612 TNRC15 2q37.1 trinucleotide repeat containing 15 KCNJ13 2q37 potassium inwardly-rectifying channel, subfamily J, member 13 LOC389084 2 similar to ASCL830 NGEF 2q37 neuronal guanine nucleotide exchange factor NEU2 2q37 sialidase 2 (cytosolic sialidase) INPP5D 2q36-q37.1 inositol polyphosphate-5-phosphatase, 145kDa APG16L 2q37.1 APG16 autophagy 16-like (S. cerevisiae)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 2872 - 775 - 2004 14992683
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
    nervousbrainbasal nucleiputamen highly
    Nervousbrainbasal nuclei  highly
     brainhindbrainmedulla oblongata highly
     braindiencephalonamygdala  
     brainbasal nucleicaudate nucleus  
     braindiencephalonthalamus  
     spinal cordanterior horn  highly Mus musculusAdult
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    Nervousperipherous  predominantly Homo sapiensFetalmRNA
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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