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FLASH GENE
Symbol DDX20 contributors: mct - updated : 03-06-2010
HGNC name DEAD (Asp-Glu-Ala-Asp) box polypeptide 20
HGNC id 2743
Location 1p13.2      Physical location : 112.298.189 - 112.310.198
Synonym name
  • gemin 3
  • SMN-interacting protein
  • DEAD-box protein DP103
  • DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 20, 103kD
  • Synonym symbol(s) DP103, GEMIN3, DKFZp434H052
    EC.number 3.6.4.13
    DNA
    TYPE functioning gene
    STRUCTURE 12.01 kb     11 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 3513 - 824 - 1999 10383418
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon lowly
     liver   lowly
    Reproductivemale systemtestis  predominantly
    Respiratorylung   lowly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal lowly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell
    Lymphoid/ImmuneT cell
    cell lineage
    cell lines neuroblastoma-derived cell lines, malignant melanoma tumor highly
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one helicase ATP-binding domain
  • a C terminal region helicase binding SMN1 via its unique C terminal domain
  • conjugated PhosphoP
    mono polymer heteromer , complex
    HOMOLOGY
    interspecies homolog to murine Ddx20 (82.4pc)
    homolog to C.elegans y23h5b.c
    homolog to rattus Ddx20 (83.7pc)
    Homologene
    FAMILY
  • DEAD box helicase family
  • DDX20 subfamily
  • CATEGORY enzyme , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm,nuclear bodies,coiled bodies (Cajal)
    text subnuclear structures next to coiled bodies called gems, coprecipitating and interacting with SMN1
    basic FUNCTION
  • ATP dependent RNA helicase, playing a catalytic role in the function of the SMN complex on RNPs
  • playing a role in the cytoplasmic spliceosomal Sn RNP assembly
  • playing a role in nuclear pre-mRNA splicing
  • may regulate NR5A1 activity
  • transcriptional corepressor activity important for embryonic and ovarian development
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS development
    text neuronal development
    PATHWAY
    metabolism
    signaling
    a component
  • survival of motor neuron (SMN) complex
  • spliceosomal subunit
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP binding
  • protein
  • SMN1, SNRPB, SNRPD2, SNRPD3, SNUPN
  • Epstein-Barr virus nuclear antigens EBNA2, EBNA3C
  • interacting with PPP4R2
  • interacting partner of HSPB8
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism SNP
  • homozygous variant genotype of a non synonymous SNP (rs197414) is associated with increased bladder cancer risk
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS