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FLASH GENE
Symbol DNAAF1 contributors: mct/npt/pgu - updated : 12-11-2015
HGNC name dynein, axonemal, assembly factor 1
HGNC id 30539
Corresponding disease
ICS14 immotile cilia syndrome 14
Location 16q24.1      Physical location : -
Synonym name
  • outer row dynein assembly 7 homolog (Chlamydomonas)
  • SDS22-like leucine-rich repeat(LRR)-containing protein
  • leucine rich repeat containing 50
    • Synonym symbol(s) DKFZp434A119, FLJ25330, ODA7, CILD13, LRRC50
    DNA
    TYPE functioning gene
    STRUCTURE 32.66 kb     12 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - SLC38A8 - MBTPS1 - HSDL1 - LRRC50 - TAF1C - ADAD2 - KCNG4 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2451 - 725 - 2008 18385425
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis  highly
    Respiratoryrespiratory tracttrachea  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • SDS22-like leucine-rich repeats necessary for proper protein function
    • HOMOLOGY
    intraspecies homolog to LRRC6
    Homologene
    FAMILY
  • leucine-rich-repeat superfamily
    • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • plays a role in assembly of distinct dynein-arm complexes
  • having a key role in cytoplasmic preassembly of dynein arms
  • cytoplasmic protein that participates in construction of dynein arms
  • plays a role in cytoplasmic preassembly and/or targeting of dynein-arm complexes
  • may function in correct dynein assembly in cilia
  • DNAAF3 acts at a similar stage as other preassembly proteins, DNAAF2 and DNAAF1 (also known as ODA7 or LRRC50), in the dynein preassembly pathway
  • play a key role in cytoplasmic preassembly of dynein arms
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of the microtubule outer dynein arm
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • in spite of its structure and functional similarities with LRRC6, the two proteins are not redundant
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS14
    Susceptibility
    Variant & Polymorphism
    Candidate gene candidate gene for human cystic kidney disease, involved in regulation of microtubule-based cilia and actin-based brush border microvilli
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    zebrafish lrrc50(hu255H) mutants develop pronephric cysts with an increased proliferative index, severely reduced brush border, and disorganized pronephric cilia manifesting impaired localized fluid flow consistent with ciliary dysfunction