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FLASH GENE
Symbol KPNA3 contributors: mct - updated : 23-10-2018
HGNC name karyopherin alpha 3 (importin alpha 4)
HGNC id 6396
PROTEIN
PHYSICAL PROPERTIES Hydrophilic
STRUCTURE
motifs/domains
  • N-terminal hydrophilic region with the importin beta binding domain (IBB domain), sufficient for binding importin beta and essential for nuclear protein import
  • ten repeats of the arm motif (from Drosophila armadillo segment polarity gene)
  • an acidic C terminus
    • mono polymer heteromer , dimer
    HOMOLOGY
    interspecies homolog to yeast SRP1
    homolog to Xenopus importin
    intraspecies paralog to KPNA2
    Homologene
    FAMILY importin alpha protein family
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    intracellular,nuclear envelope,pore
    text cytoplasmic face of the nuclear pore complex (NPL) translocated to nucleus after loading a nuclear protein and complexing with importin beta
    basic FUNCTION
  • may be involved in the nuclear transport system
  • functioning in nuclear protein import as an adapter protein for nuclear receptor KPNB1
  • protective role for KPNA3 in stress responses specifically within haploid male germline cells, with implications for male fertility and genetic integrity
  • KPNA3 is a key player in the pathogenesis of SCA3
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text nuclear
    PATHWAY
    metabolism
    signaling
    a component component of the NLS import receptor including an heterodimer of importin alpha and beta
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • recognizing the nuclear localization signal of nuclear proteins (NLS)
  • KAPNA3-mediated nuclear import of NOTCH1-intracellular domain may play important role in regulation of NOTCH signaling
  • KPNA3 and KPNA4 are key binding partners of MECP2, and mediate the nuclear import of MECP2
  • KPNA3, which increases during neuronal maturation, interacts with ADARB1 and contributes to the editing efficiency by bringing it into the nucleus
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to schizophrenia, opiate dependence and alcohol dependence
    Variant & Polymorphism SNP
  • increasing a genetic risk for schizophrenia
  • one SNP rs2273816 was found to be significantly associated with schizophrenia, opiate dependence and alcohol dependence at the genotype and allele level
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS