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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
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
    Physical map
    MGC33602 ROCK2 2p24 Rho-associated, coiled-coil containing protein kinase 2 LOC391352 2 similar to peptidyl-Pro cis trans isomerase E2F6 22q11.2 E2F transcription factor 6 GREB1 2p25.1 E2F transcription factor 6 NTSR2 2p25.1 neurotensin receptor 2 LPIN1 2p25.1 lipin 1 FAM10A3 2p25.1 family with sequence similarity 10, member A3 LOC151261 2p25.1 hypothetical LOC151261 TRB2 2p25.1 tribbles homolog 2 NSE1 2p25.1 NSE1 NAG 2p24.1 NSE1 DDX1 2p24.1 DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 LOC130678 2p25.1 similar to 60S acidic ribosomal protein P1 NCYM 2p24.1 similar to 60S acidic ribosomal protein P1 MYCN 2p24.1 v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) LOC391353 2 similar to Cerebellar-degeneration-related antigen 1 (CDR34) DKFZP566A1524 2p24.3 hypothetical protein DKFZp566A1524 LOC391354 2 similar to Mothers against decapentaplegic homolog interacting protein (Madh-interacting protein) (Smad anchor for receptor activation) (Receptor activation anchor) (hSARA) (Novel serine protease) (NSP) LOC388925 2 hypothetical gene supported by BC018859; NM_002802 VSNL1 2p24.3 visinin-like 1 SMC6L1 2p24.3 SMC6 structural maintenance of chromosomes 6-like 1 (yeast) LOC388926 2 similar to RIKEN cDNA 5830483C08 gene FLJ40869 2p24.3 similar to RIKEN cDNA 5830483C08 gene LOC343930 2p24.3 similar to pMesogenin1 KCNS3 2p23-p22.2 potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 RDH14 2p24.1 retinol dehydrogenase 14 (all-trans and 9-cis) NT5C1B 2p24.1 5'-nucleotidase, cytosolic IB LOC388927 2 LOC388927 OSR1 3p22-p21.3 oxidative-stress responsive 1 LOC130500 2p24.3 similar to Uncharacterized hematopoietic stem/progenitor cells protein MDS029 LOC130502 2p24.3 similar to CG14894-PA KIAA1336 2p24.3 KIAA1336 protein
    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