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FLASH GENE
Symbol DDX18 contributors: mct - updated : 29-06-2012
HGNC name DEAD (Asp-Glu-Ala-Asp) box polypeptide 18
HGNC id 2741
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a nuclear localization signal (NLS)
  • an N terminal DEAD/H box (Asp-Glu-Ala-Asp-His)
  • a Hyc/Max binding site
  • an helicase ATP-binding domain
  • a C terminal helicase domain
  • HOMOLOGY
    interspecies homolog to chimpanzee DDX18 (97.5 pc)
    homolog to murine Ddx18 (87.7 pc)
    homolog to chicken DDX18 (82.2 pc)
    Homologene
    FAMILY
  • DEAD box helicase family
  • DDX18/pit subfamily
  • CATEGORY enzyme , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • acting as an RNA-dependent helicase
  • involved in mt DNA metabolism
  • nucleolar protein ubiquitously expressed in tumor cells and that it is more abundantly expressed in proliferating cell
  • important for cell proliferation and that its inhibition could prevent tumor cell proliferation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA binding
    small molecule nucleotide,
  • ATP
  • protein
    cell & other
    REGULATION
    activated by the Myc/Max heterodimer
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    in acute myeloid leukemia (AML) patient samples
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • homozygous zebrafish Ddx18 mutant embryos exhibit a profound loss of myeloid and erythroid cells along with cardiovascular abnormalities and reduced size