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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
Location 2q14.1      Physical location : 118.572.254 - 118.589.953
Synonym name
  • putative ATP-dependent RNA helicase
  • Synonym symbol(s) MRDB
    EC.number 3.6.1.-/ 3.6.4.13
    DNA
    TYPE functioning gene
    STRUCTURE 17.70 kb     14 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 3790 - 670 - 2011 21653321
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   moderately
     liver   moderately
     mouth   highly
     stomach   moderately
    Endocrinethyroid   highly
    Lymphoid/Immunelymph node   highly
    Reproductivemale systemtestis  highly
    Respiratoryrespiratory tracttrachea  predominantly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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