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FLASH GENE
Symbol KIFAP3 contributors: mct - updated : 07-09-2016
HGNC name kinesin-associated protein 3
HGNC id 17060
Location 1q24.2      Physical location : 169.890.471 - 170.043.879
Synonym name
  • small G protein GDP dissociation stimulator
  • Smg GDS-associated protein
  • Synonym symbol(s) GDS, KAP3, SMAP, FLJ22818, KIF3AP, SMAP, Smg-GDS, dJ190I16.1
    DNA
    TYPE functioning gene
    STRUCTURE 153.41 kb     20 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 - 2997 - 792 - 2009 19451621
    19 - 2879 - 748 - 2009 19451621
    21 - 3175 - 714 - 2009 19451621
    - - 4120 - 752 - 2009 19451621
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
     spinal cord    
    Reproductivefemale systemuterus  highly
     male systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • nine Armadillo repeats
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,cytoplasm,cytoskeleton,microfilament
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • linker between CSPG6 and KIF3A/B in the nucleus
  • IFT172 and KIFAP3 could regulate ciliary functions important for Hedgehog signaling
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • complexing with CSPG6, SMC1L1 and kinesins
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Smg CDS protein through Armadillo repeats
  • interaction with ATPase motor proteins
  • TRIM60 most likely interacted with KIF3A-KIF3B independent of the adaptor kinesin-associated protein KIFAP3
  • GLI1, GLI2, GLI3 interacts synergistically with KIFAP3 and KIF3A
  • GLI1 interactions with KIF3A-KIF3B-KIFAP3 complexes are essential for proper GLI1 transcriptional activity
  • PKP4 directly interacts with the KIF3/subunit KIF3B, and also interacts with the kinesin cargo adaptor protein KIFAP3 acting as a stabilizing linker between KIF3B and its KIFAP3 cargo binding entity
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to sporadic amyotrophic lateral sclerosis (ALS)
    Variant & Polymorphism SNP
  • associated with decreased KIFAP3 expression and increased survival in sporadic ALS
  • SNP rs1541160 within the KIFAP3 gene is a potential modifier of the ALS phenotype
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS