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FLASH GENE
Symbol DNAH9 contributors: mct - updated : 04-01-2019
HGNC name dynein, axonemal, heavy polypeptide 9
HGNC id 2953
Corresponding disease
ICS42 immotile cilia syndrome 42
Location 17p12      Physical location : 11.501.747 - 11.873.063
Synonym name
  • dynein, axonemal, light intermediate chain 1
  • DNAH9 variant protein
  • axonemal beta dynein heavy chain 9
  • ciliary dynein heavy chain 9
  • Synonym symbol(s) DNEL1, KIAA0357, DNAH17L, HL20, DYH9, Dnahc9, HL-20
    DNA
    TYPE functioning gene
    STRUCTURE 371.74 kb     69 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D17S804 - DNAH9 - D17S921 - cen
    Authors Bartoloni (99)
    regionally located previously assigned to 17q25.2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    69 - 13750 511 4486 - 2016 26797031
    15 - 3147 91 798 exclusively in testis 2016 26797031
    exons 56-70 same orf than variant 2
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Olfactoryolfactory bulb    
    Reproductivemale systemtestis  moderately Homo sapiens
    Respiratorylung   predominantly Homo sapiens
     nose     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningnasal epithelium  
    Epithelialbarrier/lining   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegerm cell Homo sapiens
    Respiratoryciliari cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal stem and a globular C terminus containing the four P-loops that constitute the motor domain
  • a microtubule binding motif
  • a leucine zipper domain
  • HOMOLOGY
    interspecies homolog to sea urchin dynein beta chain
    Homologene
    FAMILY ATPase family
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • type 2 ODAs reside in the distal cilium beyond the region of the microvilli, containing the two heavy chains DNAH5 and DNAH9
  • DNAH9 was restricted to the distal portion of the cilia
  • basic FUNCTION
  • outer dynein arm heavy chain having ATPase activity
  • highly conserved critical role DNAH9 plays in forming the axonemal dynein arms
  • axonemal dynein heavy chain involved in ciliary motility
  • is essential forouter dynein arms (ODAs) type 2 integrity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • outer dynein arms (ODAs) DNAH5, DNAH9, DYNC1I2 proteins may be transported from the cytoplasm to the cilia by an LRRC6-dependent mechanism
  • docking of ODAs type 2 occurs via direct interaction of DNAH9 with the docking complex protein CCDC114
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS42
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS