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FLASH GENE
Symbol CCDC103 contributors: mct - updated : 12-05-2017
HGNC name coiled-coil domain containing 103
HGNC id 32700
Corresponding disease
ICS18 immotile cilia syndrome 18
Location 17q21.31      Physical location : 42.977.153 - 42.980.627
Synonym symbol(s) FLJ13094, FLJ34211, SMH, PR46b
DNA
TYPE functioning gene
STRUCTURE 3.00 kb     4 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 1766 29 242 - 2012 22581229
4 - 1770 - 104 - 2012 22581229
4 - 1813 - 98 - 2012 22581229
4 - 1751 - 103 - 2012 22581229
4 - 1750 29 242 - 2012 22581229
4 - 1736 29 242 - 2012 22581229
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Respiratoryrespiratory tracttrachea  predominantly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a central RPAP3_C domain flanked by N- and C-terminal coiled coils
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • dynein arm attachment factor that causes primary ciliary dyskinesia when mutated
  • helps generate a high-affinity site on the doublets for outer arm assembly, either through direct interactions or indirectly, perhaps by modifying the underlying microtubule lattice
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS18
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS