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KPNB1 Gene

protein-coding   GIFtS: 67
GCID: GC17P045727

Karyopherin (Importin) Beta 1

  See KPNB1-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Karyopherin (Importin) Beta 11 2     IPO12
Importin 11 2     IPOB2
Karyopherin Subunit Beta-12 3     Impnb2
Nuclear Factor P972 3     Importin 902
Pore Targeting Complex 97 KDa Subunit2 3     Importin Beta-1 Subunit2
NTF972 3     Importin Subunit Beta-12
PTAC972 3     importin-902
IMB12     Importin-903

External Ids:    HGNC: 64001   Entrez Gene: 38372   Ensembl: ENSG000001084247   OMIM: 6027385   UniProtKB: Q149743   

Export aliases for KPNB1 gene to outside databases

Previous GC identifers: GC17P045432 GC17P048207 GC17P046069 GC17P046201 GC17P043082 GC17P041096


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KPNB1 Gene:
Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes
embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires
the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin
alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side
of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran,
the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the
nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta
and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded
by this gene is a member of the importin beta family. Two transcript variants encoding different isoforms have
been found for this gene. (provided by RefSeq, Feb 2013)

GeneCards Summary for KPNB1 Gene:
KPNB1 (karyopherin (importin) beta 1) is a protein-coding gene. Diseases associated with KPNB1 include campomelic dysplasia. GO annotations related to this gene include Ran GTPase binding and protein domain specific binding.

UniProtKB/Swiss-Prot: IMB1_HUMAN, Q14974
Function: Functions in nuclear protein import, either in association with an adapter protein, like an
importin-alpha subunit, which binds to nuclear localization signals (NLS) in cargo substrates, or by acting as
autonomous nuclear transport receptor. Acting autonomously, serves itself as NLS receptor. Docking of the
importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin
FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent
mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and
importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from
importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the
GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates autonomously the nuclear import of
ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In
association with IPO7 mediates the nuclear import of H1 histone. In vitro, mediates nuclear import of H2A, H2B,
H3 and H4 histones. In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev. Imports SNAI1
and PRKCI into the nucleus

Gene Wiki entry for KPNB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010783.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the KPNB1 gene promoter:
         SRF   STAT1   SRF (504 AA)   Evi-1   GATA-1   CBF-C   CBF-B   IRF-7A   CP1A   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKPNB1 promoter sequence
   Search Chromatin IP Primers for KPNB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KPNB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q21.32   Ensembl cytogenetic band:  17q21.32   HGNC cytogenetic band: 17q21.32

KPNB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KPNB1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P045727:  view genomic region     (about GC identifiers)

Start:
45,726,842 bp from pter      End:
45,762,871 bp from pter
Size:
36,030 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IMB1_HUMAN, Q14974 (See protein sequence)
Recommended Name: Importin subunit beta-1  
Size: 876 amino acids; 97170 Da
Subunit: Forms a complex with an importin alpha subunit. Forms a heterodimer with IPO7. Interacts with IPO7,
SNUPN, RPL23A and XPO1. The KPNB1/IPO7 heterodimer interacts with H1 histone. Interacts with H2A, H2B, H3 and H4
histones (By similarity). Component of an import snRNP complex composed of KPNB1, SNUPN, SMN1 and ZNF259.
Component of a nuclear export receptor complex composed of KPNB1, Ran, SNUPN and XPO1. Binds to HIV-1 Rev and
Tat. Interacts with HTLV-1 Rex. Interacts with SRY. Interacts with PRKCI/atypical protein kinase C iota.
Interacts with human respiratory syncytial virus (HRSV) protein M. Interacts with KPNA7. Interacts with SNAI1
(via zinc fingers) and SNAI2 (via zinc fingers)
Selected PDB 3D structures from and Proteopedia for KPNB1 (see all 11):
1F59 (3D)        1IBR (3D)        1M5N (3D)        1O6O (3D)        1O6P (3D)        1QGK (3D)    
Secondary accessions: D3DTT3 Q14637 Q53XN2 Q96J27

Explore the universe of human proteins at neXtProt for KPNB1: NX_Q14974

Explore proteomics data for KPNB1 at MOPED

Post-translational modifications: 

  • Mono-ADP-ribosylated by PARP161
  • Ubiquitination2 at Lys23, Lys62, Lys206, Lys376, Lys537, Lys651, Lys730, Lys835, Lys859, Lys867
  • Modification sites at PhosphoSitePlus

  • See KPNB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001263382.1  NP_002256.2  

    ENSEMBL proteins: 
     ENSP00000438253   ENSP00000464042   ENSP00000290158   ENSP00000464200   ENSP00000438964  
     ENSP00000463066   ENSP00000463190   ENSP00000462243   ENSP00000445006  
    Reactome Protein details: Q14974

    KPNB1 Human Recombinant Protein Products:

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    Novus Biologicals KPNB1 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for KPNB1
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for KPNB1 

    KPNB1 Antibody Products:

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    R&D Systems Antibodies for KPNB1 (Importin beta/KPNB1)
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    Novus Biologicals KPNB1 Antibodies
    Abcam antibodies for KPNB1
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    ThermoFisher Antibody for KPNB1
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    KPNB1 Assay Products:

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    Search eBioscience for ELISAs for KPNB1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARMC: Armadillo repeat containing
    IPO: Importins

    Selected InterPro protein domains (see all 6):
     IPR011989 ARM-like
     IPR000225 Armadillo
     IPR021133 HEAT_type_2
     IPR001494 Importin-beta_N
     IPR027140 KPNB1

    Graphical View of Domain Structure for InterPro Entry Q14974

    ProtoNet protein and cluster: Q14974

    3 Blocks protein domains:
    IPB000225 Armadillo repeat
    IPB000357 HEAT repeat
    IPB001494 Importin-beta


    UniProtKB/Swiss-Prot: IMB1_HUMAN, Q14974
    Similarity: Belongs to the importin beta family
    Similarity: Contains 8 HEAT repeats
    Similarity: Contains 1 importin N-terminal domain


    Find genes that share domains with KPNB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IMB1_HUMAN, Q14974
    Function: Functions in nuclear protein import, either in association with an adapter protein, like an
    importin-alpha subunit, which binds to nuclear localization signals (NLS) in cargo substrates, or by acting as
    autonomous nuclear transport receptor. Acting autonomously, serves itself as NLS receptor. Docking of the
    importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin
    FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent
    mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and
    importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from
    importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the
    GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Mediates autonomously the nuclear import of
    ribosomal proteins RPL23A, RPS7 and RPL5. Binds to a beta-like import receptor binding (BIB) domain of RPL23A. In
    association with IPO7 mediates the nuclear import of H1 histone. In vitro, mediates nuclear import of H2A, H2B,
    H3 and H4 histones. In case of HIV-1 infection, binds and mediates the nuclear import of HIV-1 Rev. Imports SNAI1
    and PRKCI into the nucleus

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI11311162
    GO:0008139nuclear localization sequence binding TAS7627554
    GO:0008270zinc ion binding TAS7615630
    GO:0008536Ran GTPase binding IEA--
         
    Find genes that share ontologies with KPNB1           About GenesLikeMe


    Phenotypes:
         8 GenomeRNAi human phenotypes for KPNB1:
     Cell division defect  Decreased G3BP1 protein expres  Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/ 
     Decreased influenza A/WSN/33 r  Increased S DNA content  Increased gamma-H2AX phosphory  S arrest 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Kpnb1):
     mortality/aging  normal 

    Find genes that share phenotypes with KPNB1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KPNB1
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KPNB1

    miRNA
    Products:
        
    miRTarBase miRNAs that target KPNB1:
    hsa-mir-766-3p (MIRT039019), hsa-mir-181b-5p (MIRT047236), hsa-mir-149-5p (MIRT045512), hsa-mir-744-5p (MIRT037560), hsa-mir-1296-5p (MIRT036147), hsa-mir-125b-5p (MIRT046096), hsa-mir-877-3p (MIRT037153), hsa-mir-320a (MIRT044704), hsa-mir-455-3p (MIRT037877), hsa-mir-7-5p (MIRT047765), hsa-mir-615-3p (MIRT039764), hsa-mir-128-3p (MIRT045863), hsa-mir-1236-3p (MIRT036250), hsa-mir-92a-3p (MIRT049219), hsa-mir-222-3p (MIRT046618), hsa-mir-484 (MIRT041827), hsa-mir-1229-3p (MIRT036355)

    Block miRNA regulation of human, mouse, rat KPNB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KPNB1 (see all 37):
    hsa-miR-194* hsa-miR-361-5p hsa-miR-513a-5p hsa-miR-374a* hsa-miR-4314 hsa-miR-9 hsa-miR-1276 hsa-miR-654-5p
    SwitchGear 3'UTR luciferase reporter plasmidKPNB1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat KPNB1

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    GenScript: all cDNA clones in your preferred vector: KPNB1 (NM_002265)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KPNB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IMB1_HUMAN, Q14974: Cytoplasm. Nucleus envelope
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    extracellular1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005635nuclear envelope IDA--
    GO:0005643nuclear pore TAS7627554
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with KPNB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for KPNB1 About   (see all 23)  
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    SREBP signalling0.31
    2Interferon Signaling
    Interferon Signaling0.59
    ISG15 antiviral mechanism0.42
    Cytokine Signaling in Immune system0.59
    Antiviral mechanism by IFN-stimulated genes0.42
    3Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear import of Rev protein0.91
    Transport of Ribonucleoproteins into the Host Nucleus0.88
    Interactions of Rev with host cellular proteins0.91
    4Influenza Viral RNA Transcription and Replication
    Influenza Life Cycle0.82
    Influenza Infection0.80
    5HIV Life Cycle
    HIV Infection0.62
    Host Interactions of HIV factors0.60


    Find genes that share SuperPaths with KPNB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for KPNB1
        SMAD Signaling Network
    Ran Pathway
    SREBP Proteolysis
    NFAT in Immune Response

    1 Cell Signaling Technology (CST) Pathway for KPNB1
        Cytoskeletal Signaling

    2 GeneGo (Thomson Reuters) Pathways for KPNB1
        Cell cycle Spindle assembly and chromosome separation
    Development TGF-beta receptor signaling

    Selected BioSystems Pathways for KPNB1 (see all 6)
        SREBP signalling
    TGF-beta Receptor Signaling Pathway
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    Role of Calcineurin-dependent NFAT signaling in lymphocytes
    Regulation of cytoplasmic and nuclear SMAD2/3 signaling

    5 Reactome Pathways for KPNB1
        Activation of DNA fragmentation factor
    Nuclear import of Rev protein
    Transport of Ribonucleoproteins into the Host Nucleus
    ISG15 antiviral mechanism
    Regulation of cholesterol biosynthesis by SREBP (SREBF)


    1 Kegg Pathway  (Kegg details for KPNB1):
        RNA transport

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KPNB1
    Interactions:

        GeneGlobe Interaction Network for KPNB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KPNB1 (Q149741, 2, 3 ENSP000002901584) via UniProtKB, MINT, STRING, and/or I2D (see all 1193)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KPNA2P522922, 3, ENSP000003324554MINT-7945693 MINT-24920 MINT-7993425 MINT-7947479 MINT-7993447 MINT-3980080 I2D: score=5 STRING: ENSP00000332455
    PLCD1P511782, 3MINT-62860 MINT-62861 MINT-62859 MINT-62862 I2D: score=2 
    SMN1Q166372, 3, ENSP000003700834MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000370083
    NUP155O756942, 3, ENSP000002314984MINT-7951230 MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000231498
    CHD3Q128732, 3, ENSP000003697164MINT-3980029 MINT-7945693 I2D: score=4 STRING: ENSP00000369716
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000060protein import into nucleus, translocation TAS7615630
    GO:0006309apoptotic DNA fragmentation TAS--
    GO:0006606protein import into nucleus IDA15964792
    GO:0006607NLS-bearing protein import into nucleus TAS7627554
    GO:0006610ribosomal protein import into nucleus IDA9687515

    Find genes that share ontologies with KPNB1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KPNB1 (IMB1)

    1 HMDB Compound for KPNB1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    1 Novoseek inferred chemical compound relationship for KPNB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gtp 27.6 1 10473610 (1)



    Find genes that share compounds with KPNB1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KPNB1 gene (2 alternative transcripts): 
    NM_001276453.1  NM_002265.5  

    Unigene Cluster for KPNB1:

    Karyopherin (importin) beta 1
    Hs.532793  [show with all ESTs]
    Unigene Representative Sequence: NM_002265
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000535458 ENST00000583648 ENST00000290158(uc002ilt.1 uc010wkw.1 uc010wkx.1)
    ENST00000577918 ENST00000577875 ENST00000540627 ENST00000582097 ENST00000583013
    ENST00000579901 ENST00000578718 ENST00000580019 ENST00000580573 ENST00000580158
    ENST00000582126 ENST00000537679
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    Selected qRT-PCR Assays for microRNAs that regulate KPNB1 (see all 37):
    hsa-miR-194* hsa-miR-361-5p hsa-miR-513a-5p hsa-miR-374a* hsa-miR-4314 hsa-miR-9 hsa-miR-1276 hsa-miR-654-5p
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      QuantiTect SYBR Green Assays in human, mouse, rat KPNB1
      QuantiFast Probe-based Assays in human, mouse, rat KPNB1

    Additional mRNA sequence: 

    AK299145.1 AK301463.1 AK314780.1 AK316421.1 BC003572.1 BC024045.1 BC036703.2 BT009797.1 
    L38951.1 L39924.1 

    Selected DOTS entries (see all 48):

    DT.95235476  DT.75168063  DT.100045495  DT.95183118  DT.95280851  DT.100696829  DT.100045493  DT.99928735 
    DT.100807075  DT.120999680  DT.120999634  DT.120999712  DT.40197218  DT.100666018  DT.100666021  DT.120999641 
    DT.92468625  DT.95360603  DT.120999681  DT.95371550  DT.120753638  DT.120999663  DT.120999717  DT.419182 

    Selected AceView cDNA sequences (see all 1371):

    BQ062217 AA630062 Z45934 BQ937695 BQ425850 AU140102 AU130335 BU552525 
    BU155700 BQ775412 BU543170 BU159462 BQ948031 BQ436894 BC036703 BE748678 
    BU552482 BI861919 AI767604 BQ056838 BM834573 BQ070235 BF059169 BQ719063 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KPNB1 (see all 14)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^
    SP1:                                                              -     -           -     -                                                     -           -   
    SP2:                                                              -     -                                                                                       
    SP3:                                                                    -           -     -                                                                     
    SP4:                                                                                                                                            -               
    SP5:              -     -                                         -     -           -     -                                                                     

    ExUns: 20a · 20b ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28 ^ 29a · 29b
    SP1:                                                                    -                           
    SP2:                                                                                                
    SP3:                                                                                                
    SP4:                                                                                                
    SP5:                                                                                                


    ECgene alternative splicing isoforms for KPNB1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    KPNB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KPNB1 Expression
    About this image


    KPNB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Sertoli cells Seminiferous Tubules
     
     Ovary (Reproductive System)
             Oviduct
     
     Limb (Muscoskeletal System)
             Limb Bud
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    KPNB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KPNB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.532793
        Custom PCR Arrays for KPNB1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KPNB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KPNB1 gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kpnb11 , 5 karyopherin (importin) beta 11, 5 91.97(n)1
    99.2(a)1
      11 (60.95 cM)5
    162111  NM_008379.31  NP_032405.31 
     971597145 
    chicken
    (Gallus gallus)
    Aves KPNB11 karyopherin (importin) beta 1 82.87(n)
    94.88(a)
      426499  XM_004950014.1  XP_004950071.1 
    lizard
    (Anolis carolinensis)
    Reptilia KPNB16
    karyopherin (importin) beta 1
    97(a)
    1 ↔ 1
    6(74188491-74226390)
    African clawed frog
    (Xenopus laevis)
    Amphibia BU909229.12   -- 80.62(n)    BU909229.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CF265695.12   -- 79.12(n)    CF265695.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Fs(2)Ket1 , 3 NLS-bearing substrate-nucleus import
    protein carrier3
    Female sterile (2) Ketel1
    61(a)3
    59.3(n)1
    61.86(a)1
      2 38E33
    353361  NM_001259180.21  NP_001246109.11 
    worm
    (Caenorhabditis elegans)
    Secernentea imb-11 , 3 importin beta, nuclear transport factor3
    imb-11
    48(a)3
    52.91(n)1
    48.97(a)1
      I(4921405-4926197)3
    1721101  NM_059076.51  NP_491477.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KAP95(YLR347C)4
    KAP951
    Karyopherin beta, forms a complex with Srp1p/Kap60p; more4
    KAP951
    47.2(n)1
    35.19(a)1
      12(826413-823828)4
    8510611, 4  NP_013451.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G534801 AT5G53480 50.1(n)
    40.73(a)
      835429  NM_124727.2  NP_200160.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g05688001 Os12g0568800 50.94(n)
    43.22(a)
      4352566  NM_001073600.1  NP_001067068.1 


    ENSEMBL Gene Tree for KPNB1 (if available)
    TreeFam Gene Tree for KPNB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for KPNB1 gene

    Find genes that share paralogs with KPNB1           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for KPNB1
    PGOHUM00000233071 PGOHUM00000241457


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for KPNB1 (see all 785)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1905270501,2
    --45725275(+) ATCCAA/GTTACC 1 -- us2k10--------
    rs1931264541,2
    --45725354(+) TGAGAA/GTCTTA 1 -- us2k10--------
    rs559345761,2
    C--45725552(+) ACTGGC/TCTTGA 1 -- us2k10--------
    rs113651331,2
    C--45725676(+) TTTTT-/TAAAAG 1 -- us2k12Minor allele frequency- T:0.00NA CSA 4
    rs99049141,2
    H--45725722(+) tagtcT/Ctgaac 1 -- us2k1 tfbs34Minor allele frequency- C:0.00NS EA 400
    rs1852173741,2
    --45725867(+) GCTCAA/CTGCAA 1 -- us2k10--------
    rs47940161,2
    C,F,A--45725931(+) ggactA/Tcaggt 1 -- us2k110Minor allele frequency- T:0.44NA WA CSA EA 371
    rs780915391,2
    F--45726150(+) GTTGAG/AAACTG 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs1470850231,2
    --45726285(+) GGATGC/GGGGGT 1 -- us2k10--------
    rs776870681,2
    C,F--45726335(+) AGATTT/GATCAC 1 -- us2k11Minor allele frequency- G:0.02WA 118

    HapMap Linkage Disequilibrium report for KPNB1 (45726842 - 45762871 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for KPNB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv428344CNV Gain18775914
    nsv525267CNV Gain19592680
    essv3532CNV CNV17122850
    dgv987e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 602738    OMIM disorders: --

    1 disease for KPNB1:    
    About MalaCards
    campomelic dysplasia


    Find genes that share disorders with KPNB1           About GenesLikeMe

    1 Novoseek inferred disease relationship for KPNB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0 2 19117056 (1)

    Genetic Association Database (GAD): KPNB1
    Human Genome Epidemiology (HuGE) Navigator: KPNB1 (1 document)

    Export disorders for KPNB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for KPNB1 gene, integrated from 10 sources (see all 280):
    (articles sorted by number of sources associating them with KPNB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two different subunits of importin cooperate to recognize nuclear localization signals and bind them to the nuclear envelope. (PubMed id 7627554)1, 2, 3, 9 Goerlich D.... Prehn S. (Curr. Biol. 1995)
    2. Sequence and characterization of cytoplasmic nuclear protein import factor p97. (PubMed id 7615630)1, 2, 3 Chi N.C.... Adam S.A. (J. Cell Biol. 1995)
    3. Molecular basis for the recognition of a nonclassical nuclear localization signal by importin beta. (PubMed id 12504010)1, 2, 9 Cingolani G.... Gerace L. (Mol. Cell 2002)
    4. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. (PubMed id 22190364)1, 4 Patsopoulos N.A....de Bakker P.I. (Ann. Neurol. 2011)
    5. Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients. (PubMed id 18398821)1, 4 Nordgard S.H....Kristensen V.N. (amp 2008)
    6. Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry. (PubMed id 17370265)1, 2 Denis N.J.... Figeys D. (Proteomics 2007)
    7. Multiple importins function as nuclear transport receptors for the Rev protein of human immunodeficiency virus type 1. (PubMed id 16704975)1, 2 Arnold M.... Kehlenbach R.H. (J. Biol. Chem. 2006)
    8. Regulation of human SRY subcellular distribution by its acetylation/deacetylation. (PubMed id 15297880)1, 2 Thevenet L....Boizet-Bonhoure B. (EMBO J. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Defective importin beta recognition and nuclear import of the sex- determining factor SRY are associated with XY sex-reversing mutations. (PubMed id 12764225)1, 2 Harley V.R.... Jans D.A. (Proc. Natl. Acad. Sci. U.S.A. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 3837 HGNC: 6400 AceView: KPNB1 Ensembl:ENSG00000108424 euGenes: HUgn3837
    ECgene: KPNB1 Kegg: 3837 H-InvDB: KPNB1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for KPNB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KPNB1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for KPNB1 gene:
    Search GeneIP for patents involving KPNB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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