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FLASH GENE
Symbol DDX11 contributors: mct/npt/pgu - updated : 05-03-2010
HGNC name DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)
HGNC id 2736
Corresponding disease
WBRS Warsaw breakage syndrome
Location 12p11.21      Physical location : 31.226.778 - 31.257.725
Synonym name
  • keratinocyte growth factor regulated gene 2
  • CHL1-related helicase gene-1
  • CHL1-related protein 1
  • probable ATP-dependent RNA helicase DDX11
  • Synonym symbol(s) CHLR1, KRG2, CHL1, MGC9335
    DNA
    TYPE functioning gene
    STRUCTURE 30.95 kb     27 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 3947 102 906 - 2008 18499658
    lacking exons 6, 21(partial) intron 27
    26 - 3797 96 856 - 2008 18499658
    lacking exon 6, 21(partial) 22, intron 27
    27 - 3942 - 970 - 2008 18499658
    including exons 6, 21, intron 27, and a upstream stop codon within exon 7
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     stomach   highly
    Reproductivefemale systemuteruscervix highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/lining   
    cell lineage
    cell lines proliferative cell lines
    fluid/secretion
    at STAGE
    cell cycle     cell cycle, interphase, S, checkpoint, G2M
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal DEAD box (Asp-Glu-Ala-Asp/His)
  • C terminal helicase domain
  • HOMOLOGY
    interspecies homolog to yeast Chl1 related-helicase gene 1
    Homologene
    FAMILY
  • DEAD box helicase family
  • DEAH subfamily
  • DDX11/CHL1 sub-subfamily
  • CATEGORY enzyme , DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • DNA helicase with RNA dependent ATPase activity
  • putative regulator of chromosome segregation and transmission
  • possesses DNA-dependent ATPase and helicase activities
  • role in the establishment of sister chromatid cohesion and suggest that its action may contribute to lagging strand processing events important in cohesion
  • putatively involved in determining mean telomere length
  • functions at the interface between DNA repair and sister chromatid cohesion
  • in addition to a role in sister-chromatid cohesion, is also involved in the proper formation of heterochromatin, which in turn contributes to global nuclear organization and pleiotropic effects
  • CELLULAR PROCESS cell cycle, division
    cell life, proliferation/growth
    nucleotide, genomic integrity
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
  • ATP binding
  • protein
  • interact with components of the cohesin complex and play a role in sister chromatid cohesion
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) WBRS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    DDX11 deficient cells exhibit abnormal heterochromatin organization (
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS