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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
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
    Physical map
    SUCLA2 13q12.2-q13.3 succinate-CoA ligase, ADP-forming, beta subunit NUDT15 13q14.12 nudix (nucleoside diphosphate linked moiety X)-type motif 15 VDRIP 13q14.12 vitamin D receptor interacting protein ITM2B 13q14.3 integral membrane protein 2B RB1 13q14.2 retinoblastoma 1 (including osteosarcoma) P2RY5 13q14 purinergic receptor P2Y, G-protein coupled, 5 CHC1L 13q14.3 chromosome condensation 1-like CYSLTR2 13q14.12-p21.1 cysteinyl leukotriene receptor 2 LOC338099 13q13 proteasome activator subunit 2 pseudogene KIAA0970 13q14.11 proteasome activator subunit 2 pseudogene RAD17P2 13q14.3 RAD17 homolog (S. pombe) pseudogene 2 COX7CP1 13q14-q21 cytochrome c oxidase subunit VIIc pseudogene 1 LOC387924 13 similar to hypothetical protein FLJ10826 GPR38 13q14-q21 G protein-coupled receptor 38 CDADC1 13q14.12 cytidine and dCMP deaminase domain containing 1 FLJ12577 13q14.12 hypothetical protein FLJ12577 SETDB2 13q14 SET domain, bifurcated 2 PHF11 13q14.12 PHD finger protein 11 RCBTB1 13q14 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ARLTS1 EBRP 13q12-q13 emopamil binding related protein, delta8-delta7 sterol isomerase related protein KPNA3 13q14.3 karyopherin alpha 3 (importin alpha 4) LOC220429 13q14.13 similar to Meningioma-expressed antigen 6/11 (MEA6) (MEA11) C13orf1 13q14 chromosome 13 open reading frame 1 RFP2 13q14 ret finger protein 2 KCNRG 13q14.11 potassium channel regulator DLEU2 13q14.2-q14.3 deleted in lymphocytic leukemia, 2 DLEU1 13q14.2-q14.3 deleted in lymphocytic leukemia, 1 FAM10A4 13q14.3 family with sequence similarity 10, member A4 DLEU7 13q14.13 deleted in lymphocytic leukemia 7 FLJ11712 13q14.13 hypothetical protein FLJ11712 GUCY1B2 13q14.3 guanylate cyclase 1, soluble, beta 2 LOC387925 13 LOC387925 LOC341674 13q14.13 similar to ribosomal protein L5; 60S ribosomal protein L5 FLJ30707 13q14.13 hypothetical protein FLJ30707 DDX26 13q14.12-q14.2 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26 LOC220433 13q14.13 similar to ribosomal protein S4, X-linked WDFY2 13q14.12 WD repeat and FYVE domain containing 2
    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