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FLASH GENE
Symbol KIAA0586 contributors: mct - updated : 16-09-2015
HGNC name KIAA0586
HGNC id 19960
Corresponding disease
JBTS23 Joubert syndrome 23
SRPS9 short rib-polydactyly syndrome, type IX
Location 14q23.1      Physical location : 58.894.709 - 59.015.548
Synonym name
  • talpid3 protein
  • ortholog of chicken talpid{3}
    • Synonym symbol(s) Talpid3
    DNA
    TYPE functioning gene
    STRUCTURE 121.45 kb     30 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 5801 - 1533 - 2009 19144723
    - - 5609 - 1463 - 2009 19144723
    30 - 6043 - 1644 - 2009 19144723
    - - 5732 - 1504 - 2009 19144723
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Nervousbrain    
    Reproductivemale systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		a coiled-coil domain (region sufficient for centrosomal localisation)
    (Yin 2009)
    HOMOLOGY
    interspecies homolog to chicken talpid3
    Homologene
    FAMILY
    CATEGORY regulatory , unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text
  • centrosomal protein (Yin 2009)
  • normally localised to the proximal centrosome
    • basic FUNCTION
  • absolutely required for the function of both Gli repressor and activator in the intracellular Hedgehog pathway (Davey 2006)
  • operates in the cytoplasm to regulate the activity of both Gli repressor and activator proteins (Davey 2006)
  • growing number of centrosomal proteins that affect both ciliogenesis and Hh signalling (Yin 2009)
  • normally localised to the proximal centrosome, is essential for centrosomal migration prior to ciliogenesis but is not directly required for de novo centriologenesis, multiciliated fate, or axoneme formation
  • component of a CP110-containing protein complex important for centrosome and cilia function
  • assembles a ring-like structure at the extreme distal end of centrioles
  • is required for centriolar satellite dispersal, which precedes the formation of mature ciliary vesicles, a process requiring CEP290
  • KIAA0586 and CEP290 play overlapping and distinct roles in ciliary vesicle formation through regulation of centriolar satellite accretion and RAB8A
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • affects cilia formation through RAB8A recruitment and/or activation
  • MACF1 also interacts with the ciliary proteins MKKS and KIAA0586
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) JBTS23 , SRPS9
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS