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FLASH GENE
Symbol DNAH5 contributors: mct - updated : 04-01-2019
HGNC name dynein, axonemal, heavy chain 5
HGNC id 2950
Corresponding disease
ICS3 immotile cilia syndrome 3
Location 5p15.2      Physical location : 13.690.436 - 13.944.589
Synonym name
  • dynein, axonemal, heavy polypeptide 5
  • ciliary dynein heavy chain 5
    • Synonym symbol(s) HL1, PCD, Dnahc5, KIAA1603, KTGNR, FLJ46759
    DNA
    TYPE functioning gene
    STRUCTURE 321.50 kb     79 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
    79 - 15588 - 4624 - 1997 9256245
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis   
    Respiratorylung   predominantly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousependymal cell
    Respiratoryciliari cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a highly conserved catalytic domain
  • four P-loop consensus motifs involved in nucleotide binding
    • HOMOLOGY
    interspecies homolog to rattus Dlp5
    Homologene
    FAMILY
  • dynein heavy chain family
    • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • axonemal part of cilia
  • cilia in respiratory tract
  • flagella of spermatozoa
  • DNAH5 is present mainly in the proximal part of the cilia and reduced in the distal part
  • type 2 ODAs reside in the distal cilium beyond the region of the microvilli, containing the two heavy chains DNAH5 and DNAH9
  • panaxonemal distribution along the ciliary axonemes
    • basic FUNCTION
  • involved in microtubule-based movement, proteolysis and peptidolysis
  • outer dynein arm heavy chain playing an essential role in ultrastructiural and functional integrity of ependymal cilia
  • both ADGRV1, significantly associated with atopy, and DNAH5 contribute to ciliary function, suggesting that ciliary dysfunction might represent a novel mechanism underlying atopy
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text cilia movements and left-right (L/R) asymetry
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • tubulin
  • outer dynein arms (ODAs) DNAH5, DNAH9, DYNC1I2 proteins may be transported from the cytoplasm to the cilia by an LRRC6-dependent mechanism
    • cell & other
  • microtubules
    • REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    in hydrocephalus with aqeduct stenosis
    constitutional     --low  
    or mislocalization of DNAH5 from motile cilia is a common and potentially important pathological phenomenon in chronically inflamed airway epithelium
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS