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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
    Physical map
    LOC391429 2 similar to hypothetical protein LOC389023 2 hypothetical gene supported by BC032913; BC048425 DPP10 2q14.1 dipeptidylpeptidase 10 LOC391430 2 similar to laminin receptor-like protein LAMRL5 DDX18 2q13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 LOC389024 2 LOC389024 LOC343958 2q14.2 similar to 5-HT5B serotonin receptor FLJ10996 2q14.2 hypothetical protein FLJ10996 INSIG2 2q21.2 insulin induced gene 2 LOC389025 2 LOC389025 LOC151154 2q14.2 hypothetical LOC151154 EN1 2q14.2 engrailed homolog 1 MARCO 2q14.2 macrophage receptor with collagenous structure LOC165257 2q14.2 C1q-domain containing protein TSAP6 2q14.2 C1q-domain containing protein LOC389026 2 similar to PRO1546 DBI 2q12-q21 diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein) PR1 2q14.2 voltage-dependent calcium channel gamma subunit-like protein SCTR 2q14.1 secretin receptor LOC200373 2q14.2 similar to hypothetical protein MGC10993 2q14.2 hypothetical protein MGC10993 PTPN4 2p24.3-p24.1 protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) EPB41L5 2q21.2 erythrocyte membrane protein band 4.1 like 5 LOC391431 2 similar to NADH dehydrogenase subunit 5 FAM11B 2q21.2 similar to NADH dehydrogenase subunit 5 RALB 2cen-q13 v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) INHBB 2q12-q13 inhibin, beta B (activin AB beta polypeptide) FLJ14816 2q14.2 hypothetical protein FLJ14816 GLI2 2q24 GLI-Kruppel family member GLI2
    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