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FLASH GENE
Symbol DHX30 contributors: mct - updated : 28-12-2017
HGNC name DEAH (Asp-Glu-Ala-His) box polypeptide 30
HGNC id 16716
Corresponding disease
NEDMIAL Neurodevelopmental disorder with severe motor impairment and absent language
Location 3p21.31      Physical location : 47.844.398 - 47.891.685
Synonym name
  • retina corepressor
  • Synonym symbol(s) KIAA0890, DDX30, FLJ11214, NEDMIAL, RETCOR
    EC.number 3.6.4.13
    DNA
    TYPE functioning gene
    STRUCTURE 47.29 kb     23 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
    22 - 4104 131.3 1194 - 2017 29100085
    23 - 4133 127.1 1155 - 2017 29100085
    - - 4253 - 1166 - 2017 29100085
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrineneuroendocrinepituitary  highly
    Nervousnerve   highly
    Reproductivefemale systemuteruscervix highly
    Respiratorylung    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a DEAD/H box (Asp-Glu-Ala-Asp/His)
  • a C terminal RNA helicase domain
  • two DRBM (double-stranded RNA -binding) domains
  • a DEVH box motif (ATPase/helicase domain)
  • two CoRNR motifs that are thought to function as a physical interface for nuclear receptors and are found in co-repressors such as NCoR and SMRT
  • HOMOLOGY
    interspecies homolog to murine Helg protein
    Homologene
    FAMILY
  • DEAD box helicase family
  • DExH-box helicases family
  • CATEGORY enzyme , RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleolus
    text
  • mostly diffusely localized throughout the cytoplasm with a slight accumulation in mitochondria, consistent with the distribution of endogenous DHX30
  • basic FUNCTION
  • RNA metabolism
  • DHX30 is a cellular factor involved in the antiviral function of ZC3HAV1
  • DHX30 and DDX28 and FASTKD2 are required for mitochondrial ribosome biogenesis
  • acts as an RNA-dependent ATPase
  • CELLULAR PROCESS nucleotide, replication
    nucleotide, repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA binding
    small molecule
    protein
  • DHX30 is required for optimal antiviral activity of ZC3HAV1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEDMIAL
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS