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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
    Physical map
    TNT 16p12.2 TNT protein LOC124199 16p12.2 similar to translation Elongation FacTor (eft-4) FLJ13798 16p12.2 hypothetical protein FLJ13798 NSE1 2p25.1 NSE1 IL4R 16p12.11-11.2 interleukin 4 receptor IL21R 16p11 interleukin 21 receptor GTF3C1 16p12.1-p11.2 general transcription factor IIIC, polypeptide 1, alpha 220kDa KIAA0556 16p12.2-p12.1 KIAA0556 protein MGC18079 16p12.1 hypothetical protein MGC18079 XPO6 16p12 exportin 6 LOC390687 16 similar to Glyceraldehyde 3-phosphate dehydrogenase, liver (GAPDH) LOC388228 16 similar to SH3-binding kinase LOC388229 16 similar to Group X secretory phospholipase A2 precursor (Phosphatidylcholine 2-acylhydrolase GX) (GX sPLA2) (sPLA2-X) EIF3S8 16p11.2 eukaryotic translation initiation factor 3, subunit 8, 110kDa LOC283890 16p12.1 similar to nuclear pore complex interacting protein LOC388230 16 similar to MGC9515 protein LOC388231 16 LOC388231 SULT1A1 16p12.1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 SULT1A2 16p12-p11.2 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 LOC112869 16p12.1 hypothetical protein BC011981 P8 16p11.2 p8 protein (candidate of metastasis 1) IL27  interleukin 27 LOC388232 16 similar to apolipoprotein B48 receptor
    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