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FLASH GENE
Symbol DDX54 contributors: mct - updated : 13-12-2016
HGNC name DEAD (Asp-Glu-Ala-Asp) box polypeptide 54
HGNC id 20084
Corresponding disease
NDDNA3 neurodevelopmental disorder, with neurologic anomalies 3
Location 12q24.13      Physical location : 113.594.983 - 113.623.284
Synonym name
  • ATP-dependent RNA helicase MGC2835
  • DEAD box RNA helicase 97 kDa
  • ATP-dependent RNA helicase
  • ATP-dependent RNA helicase DDX54
  • ATP-dependent RNA helicase DP97
  • Synonym symbol(s) DP97, APR-5, MGC2835
    EC.number 3.6.4.13
    DNA
    TYPE functioning gene
    STRUCTURE 28.31 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 4404 98.5 882 - Rajendran (2003)
  • isoform 1
  • 20 - 4401 98.4 881 - Rajendran (2003)
  • isoform 2
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinepancreas    
    Respiratorylung    
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningepidermis  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    IMPRINTING paternally
    text maternally expressed (during oogenesis), functioning during early embryogenesis
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one helicase ATP-binding domain
  • one helicase C-terminal domain
  • a repression domain (RD) between AAs 589631, therefore its C-terminal region (AAs 413865) is sufficient for transcriptional repression of ESR1
  • HOMOLOGY
    interspecies homolog to murine Ddx54 (86.1pc)
    homolog to rattus Ddx54 (86.0pc)
    Homologene
    FAMILY
  • DEAD box DNA/RNA helicase protein family
  • DDX54/DBP10 subfamily
  • CATEGORY regulatory , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,nucleolus
    basic FUNCTION
  • playing an important role in oocyte formation and in the specification of the posterior structures of the embryo
  • RNA-dependent ATPase activity
  • essential for proper myelination in the CNS
  • is thought to function in transcriptional regulation (Gustafson)
  • might be not only a useful marker for investigating the ontogeny of oligodendrocytes but also an important factor in oligodendrocyte differentiation and myelination
  • enhanced the transcriptional activity of NR1I3 by direct interaction in a gene- or promoter-selective manner
  • play an important role in central nervous system myelination, presumably in myelin sheath formation after the differentiation of oligodendrocytes
  • plays a specific role in splicing during DNA damage repair (DDR), wherein it increases cell survival by promoting transcription of DNA damage-response gene
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • is part of the spliceosome complex B
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with a 14-3-3 protein in a ligand-dependent manner with estrogen receptors and with other nuclear receptors to repress their transcriptional activity (Gustafson 2010)
  • DDX54 is a novel NR1I3-interacting protein, and enhances NR1I3-mediated transcriptional activation
  • DDX54 may directly interact with MBP mRNA
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDDNA3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS