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FLASH GENE
Symbol KIAA0556 contributors: mct - updated : 23-08-2017
HGNC name KIAA0556
HGNC id 29068
Corresponding disease
JBTS26 Joubert syndrome 26
Location 16p12.1      Physical location : 27.561.467 - 27.791.691
Genatlas name
  • Katanin-interacting protein
    • Synonym name hypothetical protein LOC23247
    Synonym symbol(s) JBTS26, KATNIP
    DNA
    TYPE functioning gene
    STRUCTURE 230.24 kb     28 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
    29 - 6618 181 1618 - 2016 27245168
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivepharynx    
    Endocrinethyroid   highly
    Reproductivemale systemprostate   
    Skin/Tegumentskin    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,cytoskeleton
    basic FUNCTION
  • conserved ciliary role for KIAA0556 linked to microtubule regulation
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds to microtubules in vitro and appears to stabilise microtubule networks when overexpressed
  • biochemically interacts with ciliary proteins and p60/p80 katanins
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) JBTS26
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Kiaa0556 (-/-) null mice possess a Joubert syndrome-associated brain-restricted phenotype