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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
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