Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol KPNA3 contributors: mct - updated : 23-10-2018
HGNC name karyopherin alpha 3 (importin alpha 4)
HGNC id 6396
Location 13q14.2      Physical location : 50.273.442 - 50.367.057
Synonym name
  • importin alpha 4
  • importin alpha Q2
  • importin subunit alpha-3
  • Synonym symbol(s) RCH1, SRP1ALPHA, RP11-432M24.3, IPOA4, SRP1gamma, SRP4, hSRP1
    DNA
    TYPE functioning gene
    STRUCTURE 93.61 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    17 - 4478 - 521 - 2018 29476013
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     liver    
    Reproductivemale systemtestis  highly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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