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FLASH GENE
Symbol KIFAP3 contributors: mct - updated : 07-09-2016
HGNC name kinesin-associated protein 3
HGNC id 17060
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