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FLASH GENE
Symbol SKIV2L contributors: mct - updated : 11-04-2012
HGNC name superkiller viralicidic activity 2-like (S. cerevisiae)
HGNC id 10898
Corresponding disease
THES trichohepatoenteric syndrome
Location 6p21.32      Physical location : 3.212.163 - 31.937.532
Synonym name
  • DEAD/H box protein 13 in major histocompatibility class III region (see HTFAG@), recognized by monoclonal antibody 170A1 with homology to human KIAA052,(superfamily II)
    • Synonym symbol(s) DDX13, G11A, SKI2, SKI2W
    DNA
    TYPE functioning gene
    SPECIAL FEATURE head to head, opposite orientation
    text head to head with RDBP
    STRUCTURE 10.95 kb     28 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure common with RDBP
    MAPPING cloned Y linked   status confirmed
    Map see HTFAG@ ,TNXB
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 - 4187 - 1246 - 2000 10774746
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     stomach    
    Reproductivefemale systemuteruscervix  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • DEAD/H box (Asp-Glu-Ala-Asp/His)
  • a leucine zipper domain
  • a RGD motif
  • helicase C terminal domain
    • HOMOLOGY
    interspecies homolog to yeast S.cerevisiae -like 2
    Homologene
    FAMILY
  • helicase family
  • ski2 subfamily
    • CATEGORY enzyme , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • RNA helicase with RNA dependent ATPase activity
  • probably involved in the regulation of translation and RNA turnover
    • CELLULAR PROCESS protein, translation regulation
    PHYSIOLOGICAL PROCESS immunity/defense
    text
  • blocking translation of poly (A) deficient mRNAs
  • antiviral activity
    • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA binding
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) THES
    Susceptibility to age-related macular degeneration
    Variant & Polymorphism SNP
  • rs429608, an intronic SNP in SKIV2L is a protective factor for age-related macular degeneration
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS