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FLASH GENE
Symbol LRRC6 contributors: mct - updated : 05-12-2016
HGNC name leucine rich repeat containing 6
HGNC id 16725
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis  moderately Homo sapiens
Respiratoryrespiratory tract   moderately Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Respiratoryepithelial cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • five N-terminal LRR motifs
  • also contains an LRRcap that shields the solenoid
  • a coiled-coil (CC) domain
  • a polylysine motif
  • and a C-terminal alpha-crystallin-p23-like domain
  • HOMOLOGY
    intraspecies homolog to DNAAF1
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,cytoplasm,cytoskeleton,microfilament
    text
  • most abundant in the cytoplasm of pachytene and diplotene cells, corresponding to late prophase of meiosis I
  • basic FUNCTION
  • key role for LRRC6 in embryonic nodal cilia
  • additional player in DA (dynein arms) assembly, a process that is essential for proper axoneme building
  • is potentially a part of this chaperone complex by acting via its alpha-crystallin-p23-like domain in this elaborated mechanism of dynein arms preassembly
  • is likely involved in the regulation of cilia&
  • 8208;mediated processes
  • LRRC6 may be required for the transport of the Outer dynein arms (ODAs) complex to the axoneme, but LRRC6 may also be involved in cytoplasmic preassembly of ODA proteins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component cytoplasmic protein complex containing ZMYND10 and LRRC6 is necessary for motile ciliary function
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • in spite of its structure and functional similarities with DNAAF1, the two proteins are not redundant
  • ZMYND10 and LRRC6 interact
  • outer dynein arms (ODAs) DNAH5, DNAH9, DYNC1I2 proteins may be transported from the cytoplasm to the cilia by an LRRC6-dependent mechanism
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS21
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS