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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
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