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FLASH GENE
Symbol LRRC56 contributors: mct - updated : 27-11-2018
HGNC name leucine rich repeat containing 56
HGNC id 25430
Corresponding disease
ICS41 immotile cilia syndrome 41
Location 11p15.5      Physical location : 537.521 - 554.915
Synonym symbol(s) FLJ00101, DKFZp761L1518
DNA
TYPE functioning gene
STRUCTURE 35.95 kb     14 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 2765 - 542 - 2018 30388400
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Respiratorylung   highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Respiratoryciliari cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • five leucine-rich repeat domains conserved across species whose motile cilia are assembled by intraflagellar transport (IFT)
  • HOMOLOGY
    interspecies homolog to Chlamydomonas Oda8
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • is recruited to the cilium during axoneme construction, where it co-localizes with IFT trains and is required for the addition of dynein arms to the distal end of the flagellum
  • basic FUNCTION
  • play likely a role in intraflagellar transport (IFT)-dependent assembly of outer row dynein arms, not axonemal docking
  • plays likely an important role in formation and transport of mature dynein complexes during flagellar assembly
  • having a likely role in dynein transport during cilia assembly that is evolutionarily important for cilia motility
  • recruited during flagellar assembly before its removal during flagellum maturation, after cell division
  • likely performs an IFT-associated function in motile cilia
  • potential role for LRRC56 in the assembly of dynein arms in the distal portion of the axoneme
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • LRRC56 interacts with the intraflagellar transport (IFT) protein IFT88
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS41
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS