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FLASH GENE
Symbol DHX16 contributors: shn - updated : 10-09-2019
HGNC name DEAH (Asp-Glu-Ala-His) box polypeptide 16
HGNC id 2739
Corresponding disease
NDDNA2 neurodevelopmental disorder, with neurologic anomalies 2
Location 6p21.33      Physical location : 1.913.797 - 30.640.830
Synonym name
  • DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16
  • DEAH-box protein DHX16
  • ATP-dependent RNA helicase 3
  • DEAD/H box 16
  • RNA helicase
  • putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16
  • Synonym symbol(s) DBP2, DDX16, DAQB-47P19.12, PRO2014, PRP8, Prp2, PRPF2, KIAA0577
    EC.number 3.6.4.13
    DNA
    TYPE functioning gene
    STRUCTURE 13.58 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map mapped to the MHC region on chromosome 6p21.3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 splicing 3156 - 981 - 1998 9547260
    transcript variant 2
    20 splicing 3477 - 1041 - 1998 9547260
    transcript variant 1
    21 - 4137 - 560 - 1998 9547260
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellum highly Homo sapiens
    Reproductivemale systemtestis  highly
    Visualeye   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • DEAD/H box (Asp-Glu-Ala-Asp/His)
  • helicase domain
  • C terminal helicase domain
  • HOMOLOGY
    interspecies homolog to cdc28(+)/prp8(+), Schizosaccaromyces pombe
    ortholog to DHX16, Pan troglodytes
    ortholog to Dhx16, Mus musculus
    ortholog to Dhx16, Rattus norvegicus
    ortholog to dhx16, Danio rerio
    ortholog to S. cerevisiae spliceosomal protein Prp2
    Homologene
    FAMILY
  • DEAD/H box protein 16 family
  • CATEGORY enzyme , RNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • contributes to human pre-mRNA splicing
  • required for pre-mRNA splicing after the formation of a pre-catalytic spliceosome
  • is required for pre-mRNA splicing
  • CELLULAR PROCESS cell cycle
    nucleotide, transcription, maturation
    nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    text pre-mRNA splicing
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CWC22 and DHX16 bind to the spliceosome independently of each other (CWC22 is required for the productive function of DHX16 in the first catalytic step, but in the absence of CWC22, DHX16 binds to the spliceosome and dissociates upon ATP hydrolysis in a nonproductive manner)
  • during step 1 of splicing, PRPF8 interactions with SF3b proteins are replaced by SLU7, positioning this second step factor close to the active site, and that the DEAH-box helicases DHX16 and DHX38 cooperate through ordered interactions with GPKOW (PMIDl:
  • GPKOW interacted directly with the DHX16/hPRP2 and with RNA
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDDNA2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    mutant DHX16 causes a defective spliceosome to retain unspliced gene transcripts in the nuclei of human cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS