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FLASH GENE
Symbol DDX1 contributors: mct/pgu - updated : 13-03-2023
HGNC name DEAD (Asp-Glu-Ala-Asp) box polypeptide 1
HGNC id 2734
Location 2p24.3      Physical location : 15.731.769 - 15.771.224
Synonym name
  • DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1
  • DEAD box-1
  • DEAD box protein retinoblastoma
  • ATP-dependent RNA helicase DDX1
    • Synonym symbol(s) DBP-RB, UKVH5d
    EC.number 3.6.4.13
    DNA
    TYPE functioning gene
    STRUCTURE 39.46 kb     26 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    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 RNA helicase family
  • DDX1 subfamily
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic,granule
    intracellular,nucleus,nucleoplasm
    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
  • plays an important role in tRNA and mRNA processing, is involved in tumor progression and is also hijacked by several virus families such as HIV-1 for replication and nuclear export
  • potential role for DDX1 in resolving RNA-DNA structures that accumulate at DSBs located at sites of active transcription
  • DDX1 and RIF1 have different nucleic acid requirements for accumulation at DSBs, with RNA-DNA hybrids required for DDX1 accrual at DSBs, and single-strand RNA required for accumulation of RIF1 at these sites
  • important role for DDX1 in the regulation of gene alternative splicing and insulin secretion in pancreatic beta cells
  • novel role for DDX1 in maintaining cytoplasmic mRNA levels in cells exposed to oxidative stress
    • 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
  • strong cooperativity in binding of RNA and ATP to DDX1 that is also reflected in ATP hydrolysis
    • 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
  • DDX1, a RNA helicase also implicated in DSB repair, interacts with RIF1, with co-localization of DDX1 and RIF1 observed throughout interphase
  • LGR5 is likely a critical effector of DDX1 in colorectal cancer cells
  • FAM98A associates with stress granule-localized proteins, such as DDX1, ATXN2, ATXN2L, and NUFIP2
  • DDX1 controls access to subsets of key maternal RNAs required for early embryonic development
  • nuclear role for GLE1 in coordinating DDX1 function in transcription termination complexes
    • 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
    SystemTypeDisorderPubmed
    cancerdigestivecolon
    DDX1-LGR5 axis could be a new drug target for colorectal cancer
    ANIMAL & CELL MODELS
  • Ddx1 knockout in early mouse embryos disrupts calcium distribution, and increases mitochondria membrane potential, mitochondrial activity, and reactive oxygen species