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FLASH GENE
Symbol LTC4S contributors: KTN/npt - updated : 04/11/2008
HGNC name leukotriene C4 synthase
HGNC id 6719
Corresponding disease
LTC4SD leukotriène C4 synthase deficiency
Location 5q35      Physical location : 179.220.985 - 179.223.512
Synonym name LTC4 synthase
Synonym symbol(s) MGC33147
EC.number 4.4.1.20
DNA
TYPE functioning gene
STRUCTURE 2.53 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   enhancer   transcription factor
text structure
  • SP1 transcription factor binding site, AP1 and AP2 enhancer elements, GATA1, Krüppel like and lnr binding sites
  • promoter activity stimulated by 12-O-tetradecanoylphorbol-13-acetate and all-trans-retinoic acid
  • MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    text multiple transcription initiation sites in the 5' flanking region
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 680 16 150 - Tornhamce et al. (03)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Urinarykidney   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Epithelialbarrier/lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
     mast cell
    Blood/Hematopoieticbasophil
    Blood/Hematopoieticeosinophil
    Blood/Hematopoieticplatelet
    Cardiovascularendothelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two consensus protein kinase C (PKC) phosphorylation sites
  • three transmembrane domains
  • N-glycosylation site
  • conjugated GlycoP
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to dog LTC4S (91 pc)
    homolog to chimpanzee LTC4S (99.3 pc)
    homolog to cow LTC4S (97 pc)
    homolog to rattus Ltc4s (86 pc)
    homolog to murine Ltc4s (88 pc)
    Homologene
    FAMILY
  • membrane-associated protein in eicosanoid and glutathione metabolism (MAPEG) family
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    intracellular,nuclear envelope,ext
    text multi-pass membrane protein
    basic FUNCTION
  • catalyzing the first step in the biosynthesis of cysteinyl leukotrienes derived from arachidonic acid
  • catalyzing the conjugation of leukotriene A4 with reduced glutathione to form leukotriene C4
  • acting as an enzyme activator
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    leukotriene biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LTC4SD
    Susceptibility to asthma and aspirin-intolerant asthma
    Variant & Polymorphism SNP
  • a -444A/C polymorphism creating an extra recognition site for AP2 enhancer
  • a -1072G/A substitution generating an additional LF-A1 and alpha-INF-2 site
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS