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FLASH GENE
Symbol CFAP300 contributors: mct - updated : 06-06-2018
HGNC name cilia and flagella associated protein 300
HGNC id 28188
Corresponding disease
ICS39 immotile cilia syndrome 39
Location 11q22.1      Physical location : -
Synonym name
  • hypothetical protein LOC85016
  • chromosome 11 open reading frame 70
    • Synonym symbol(s) MGC13040, C11orf70
    DNA
    TYPE functioning gene
    STRUCTURE 37.15 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2126 - 243 - 2018 29727692
    7 - 2198 - 267 - 2018 29727692
    4 - 548 - 99 - 2018 29727692
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx    
    Reproductivemale systemtestis  predominantly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • playing a role within the chaperone-mediated sequential protein folding and trafficking pathways that are required for the cytoplasmic preassembly of dynein arm motors and their subsequent import into the motile ciliary axoneme
  • is essential for assembly of dynein arms
  • protein needed for assembly of both outer and inner arm axonemal dyneins in respiratory cilia, a hallmark of the axonemal dynein assembly co-chaperones
  • is likely actively transported in cilia and recycled back to the cell, in a fashion consistent with involvement in IFT-based transport
  • is involved in cytoplasmic assembly of dynein arms
  • is also involved in the preassembly of ODAs and IDAs in sperm cells
  • is probably a cytoplasmic preassembly factor and/or might be involved in the transport of dynein components to the ciliary axonemes
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction with cytoplasmic Outer and Inner Dynein Arms assembly factor DNAAF2
  • binary interaction with DNAAF2 indicates a critical role for CFAP300 within the dynein-arm assembly machinery
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS39
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    results in the male-infertility-associated absence of ODAs and IDAs in sperm flagella
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS