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FLASH GENE
Symbol DDX43 contributors: mct - updated : 15-10-2014
HGNC name DEAD (Asp-Glu-Ala-Asp) box polypeptide 43
HGNC id 18677
DNA
TYPE breakpoint
STRUCTURE 23.05 kb     17 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
LOC340167 6q14.1 similar to hypothetical protein DKFZp434A1315 KCNQ5 6q14 potassium voltage-gated channel, KQT-like subfamily, member 5 C6orf148 6q13 chromosome 6 open reading frame 148 EIF3S6P1 6q13 eukaryotic translation initiation factor 3, subunit 6 48kDa pseudogene 1 LOC391942 6 similar to syntenin-2alpha LOC391943 6 similar to Multifunctional protein ADE2 LOC340168 6q14.1 similar to developmental pluripotency associated 5; embryonal stem cell specific gene 1 LOC154288 6q14.1 similar to RIKEN cDNA 2410004A20 RPL39P3 6q14.1 ribosomal protein L39 pseudogene 3 DDX43 6q12-q13 DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 C6orf150 6q13 chromosome 6 open reading frame 150 MTO1 6q14.1 mitochondrial translation optimization 1 homolog (S. cerevisiae) EEF1A1 6q14 eukaryotic translation elongation factor 1 alpha 1 LOC389411 6 LOC389411 SLC17A5 6q14-q15 solute carrier family 17 (anion/sugar transporter), member 5 CD109 6q14.1 CD109 antigen (Gov platelet alloantigens)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 2707 73 648 - 2000 10919659
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis   
cell lineage
cell lines various tumor cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • DEAD/DEAH (Asp-Glu-Ala-Asp/His) box helicase
  • nine conserved motifs grouped into two domains connected by a polylinker SAT region
  • HOMOLOGY
    Homologene
    FAMILY
  • DEAD box helicase family
  • DDX5/DDX17 subfamily
  • CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • ATP-dependent RNA helicase displaying tumor-specific expression
  • implicated in the promotion of tumor growth in melanoma through RAS/AKT and RAS/ERK pathways
  • promotes proliferation and tumor growth of malignant melanoma cells
  • promotes tumor cell proliferation by regulating RAS protein expression, which in turn leads to the activation of downstream signaling pathways implicated in cell proliferation and survival
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • may promote NRAS protein expression by unwinding and stabilizing NRAS mRNA, therefore enhancing its translation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral       gain of function
    by promoter hypomethylation and DDX43 hypomethylation may be a favorable prognostic factor in acute myeloid leukemia
    tumoral     --over  
    hypomethylation of the DDX43 promoter directly correlates with its expression in both CML cell lines and patients and is associated with advanced disease and poor outcome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerskin 
    cancer therapies targeting DDX43 helicase may have broad applications for treating malignant melanoma
    ANIMAL & CELL MODELS