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FLASH GENE
Symbol DDX1 contributors: mct/pgu - updated : 18-11-2013
HGNC name DEAD (Asp-Glu-Ala-Asp) box polypeptide 1
HGNC id 2734
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
26 - 2706 - 740 - 1996 8875996
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinethyroid   highly
Nervousbrain   highly
 spinal cord    
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelial    
Nervouscentral   
cell lineage
cell lines
  • retinoblastoma cell lines
  • expressed in many cell types early in development, that later becomes restricted
  • fluid/secretion
    at STAGE
    physiological period embryo
    Text neuroectodermal origin
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a SPRY domain
  • one helicase ATP-binding domain
  • one helicase C terminal domain
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to murine ddx1 (97.6pc)
    homolog to rattus Ddx1 (97.7pc)
    Homologene
    FAMILY
  • DEAD box helicase family
  • DDX1 subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,granule
    intracellular,nucleus
    basic FUNCTION
  • RNA helicase with RNA dependent ATPase activity
  • is required for testicular tumorigenesis
  • specific roles in differentiated cells
  • cofactor in various biological processes
  • is required for both Rev activity and HIV production from infected cells
  • DDX3X, DDX1 and DHX9 are among the helicases that are required for the replication of a diverse range of viruses
  • DDX1 and DDX3X DEAD-box RNA helicases are known to be required for efficient HIV-1 Rev-dependent RNA export
  • CELLULAR PROCESS cell cycle
    cell life, proliferation/growth
    nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS development
    text spliceosome assembly proliferation
    PATHWAY
    metabolism
    signaling
    a component
  • DDX1-DDX21-DHX36 complex represents a dsRNA sensor that uses the TICAM1 pathway to activate type I IFN responses in the cytosol of myeloid dendritic cells (mDCs)
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP binding
  • protein
  • interacting with RELA, recruiting it to NF-KB-binding promoter sequences
  • binding HIV Regulator of virion (Rev) protein, hwihc is required for nuclear export of viral transcripts v)
  • acts potentially as a cellular cofactor by promoting oligomerization of Rev on the Rev response element (RRE)
  • subcellular localization of KHSRP is regulated by competing interactions with DDX1 or 14-3-3
  • cell & other
    REGULATION
    Other phosphorylated by ATM, phosphorylation enhanced by ionizing radiation, suggesting a role in the repair of dsDNA breaks
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    co-amplified with MYCN in neuroblastoma
    tumoral   amplification    
    in retinoblastoma, neuroblastoma, lung small cell carcinoma with poor prognosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS