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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KPNB1 Gene

protein-coding   GIFtS: 65
GCID: GC17P045727

karyopherin (importin) beta 1
 Explore 22 diseases affiliated with
KPNB1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KPNB1    

Aliases
for KPNB1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Karyopherin (Importin) Beta 11 2     MGC21551
NTF971 2 3     MGC21561
IMB11 2     MGC21571
IPO11 2     Importin 12
IPOB1 2     Importin 902
Impnb1 2     Importin Beta-1 Subunit2
Karyopherin Subunit Beta-12 3     Importin Subunit Beta-12
Nuclear Factor P972 3     Importin-903
Pore Targeting Complex 97 KDa Subunit2 3     Importin-903
PTAC972 3     

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


Summaries
for KPNB1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for KPNB1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences 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 plasmid: KPNB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for KPNB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for KPNB1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: Cytoplasm. Nucleus envelope
6/11 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

Post-translational modifications:

  • Mono-ADP-ribosylated by PARP161
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14974

    • KPNB1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Novus Biologicals KPNB1 Proteins
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    ProSpec Recombinant Protein for KPNB1
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005643nuclear pore IEA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0031965nuclear membrane IDA--


    KPNB1 for ontologies           About GeneDecksing



    KPNB1 Antibody Products: 
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    Protein Domains /
    Families
    for KPNB1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KPNB1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR011989 ARM-like
     IPR000225 Armadillo
     IPR021133 HEAT_type_2
     IPR027140 KPNB1
     IPR001494 Importin-beta_N

    Graphical View of Domain Structure for InterPro Entry Q14974

    ProtoNet protein and cluster: Q14974

    3 Blocks protein families:
    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


    Function
    for KPNB1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

    miRNA
    Products:            		 OriGene 3'-UTR Clone: KPNB1
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KPNB1
    8/37 QIAGEN miScript miRNA 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 plasmid: KPNB1 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KPNB1 (see all 7)
    OriGene shRNA RFP: KPNB1
    OriGene siRNA: KPNB1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KPNB1

    Gene Editing
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    Clone
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16314522
    GO:0008139nuclear localization sequence binding TAS7627554
    GO:0008270zinc ion binding TAS7615630
    GO:0008565protein transporter activity IEA--
    GO:0019904protein domain specific binding IPI11984006


    KPNB1 for ontologies           About GeneDecksing


    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 

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

    KPNB1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for KPNB1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/25 super-pathways (see all 25) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Translocation of Influenza A virus nonstructural protein 1 (NS1A) into the nucleus
    		Translocation of Influenza A virus nonstructural protein 1 (NS1A) into the nucleus1.00
    		Antiviral mechanism by IFN-stimulated genes0.49
    		Nuclear import of Rev protein0.76
    		ISG15 antiviral mechanism0.49
    		Interactions of Rev with host cellular proteins0.72
    2Cell cycle_Spindle assembly and chromosome separation
    		Cell cycle_Spindle assembly and chromosome separation1.00
    		Cell cycle Spindle assembly and chromosome separation0.94
    3Development_TGF-beta receptor signaling
    		Development_TGF-beta receptor signaling1.00
    		Development TGF-beta receptor signaling0.96
    4Cytokine Signaling in Immune system
    		Cytokine Signaling in Immune system1.00
    		Interferon Signaling0.61
    5HIV Infection
    		HIV Infection1.00
    		Host Interactions of HIV factors0.64

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for KPNB1
        Cell cycle Spindle assembly and chromosome separation
    Development TGF-beta receptor signaling

    4 Downloadable PowerPoint Slides of QIAGEN 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

    5/6 BioSystems Pathways for KPNB1 (see all 6) 
        SREBP signalling
    TGF-beta Receptor Signaling Pathway
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    Regulation of cytoplasmic and nuclear SMAD2/3 signaling
    Signaling events mediated by TCPTP

    5/22        Reactome Pathways for KPNB1 (see all 22)
        Activation of DNA fragmentation factor
    Antiviral mechanism by IFN-stimulated genes
    Metabolism
    Transport of Ribonucleoproteins into the Host Nucleus
    Interactions of Rev with host cellular proteins


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


    KPNB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KPNB1

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

    5/1046 Interacting proteins for KPNB1 (Q149741, 2, 3 ENSP000002901584) via UniProtKB, MINT, STRING, and/or I2D (see all 1046)
    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
    SMN2Q166372, 3, ENSP000003701194MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000370119
    NUP155O756942, 3, ENSP000002314984MINT-7951230 MINT-7945693 MINT-7947479 I2D: score=1 STRING: ENSP00000231498
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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 substrate import into nucleus TAS7627554
    GO:0006610ribosomal protein import into nucleus IDA9687515


    KPNB1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for KPNB1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KPNB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KPNB1

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

    Search CenterWatch for drugs/clinical trials and news about KPNB1 / IMB1 

    Transcripts
    for KPNB1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for KPNB1 gene (2 alternative transcripts): 
    NM_001276453.1  NM_002265.5  

    Unigene Clusters for KPNB1:

    Karyopherin (importin) beta 1
    Hs.532793  [show with all ESTs], Hs.706168  [show with all ESTs]
    Unigene Representative Sequences: L38951, BG746254
    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

    miRNA
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    8/37 QIAGEN miScript miRNA 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 plasmid: KPNB1 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KPNB1
    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KPNB1 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KPNB1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KPNB1

    Additional cDNA sequence: L39924.1 

    24/48 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 

    24/1371 AceView cDNA sequences (see all 1371):

    BF111391 BU194615 AU130079 AU120685 BQ071712 AI589519 AI239768 AA642182 
    CF619396 BQ956953 AI635568 BQ676976 AI291664 AI632518 AA181580 BQ898430 
    BM722086 BQ057652 BQ949625 AI804513 R64667 BG761582 AA505293 BU684133 

    GeneLoc Exon Structure

    5/14 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

    Expression
    for KPNB1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KPNB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KPNB1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSertoli cellsTestis
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KPNB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KPNB1

    SOURCE GeneReport for Unigene clusters: Hs.532793 Hs.706168
        SABiosciences Custom PCR Arrays for KPNB1
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    Assay Products:     
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    Orthologs
    for KPNB1 gene

    (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
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for KPNB1 gene from 9/35 species (see all 35)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves KPNB11 karyopherin (importin) beta 1 84.34(n)
    97.98(a)    		   426499  XM_003643248.1  XP_003643296.1 
    lizard
    (Anolis carolinensis)    		 Reptilia KPNB16
    		 --
    		 97(a)
    		 1 ↔ 1
    		 6(74188491-74222138)
    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_058148.41  NP_477496.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea imb-11 , 3 importin beta, nuclear transport factor3
    Protein IMB-11    		 48(a)3
    52.95(n)1
    49.08(a)1    		   I(4921405-4926197)3
    1721101  NM_059076.41  NP_491477.21 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes KAP95(YLR347C)4
    KAP951    		 Karyopherin beta, forms a complex with Srp1p/Kap60p; more4
    Kap95p1    		 46.64(n)1
    34.83(a)1    		   12(826413-823828)4
    8510611, 4  NP_013451.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G534801 armadillo/beta-catenin-like repeat-containing protein 50.1(n)
    41.02(a)    		   835429  NM_124727.2  NP_200160.1 
    rice
    (Oryza sativa)    		 Liliopsida Os12g05688001 hypothetical protein 50.24(n)
    42.5(a)    		   4352566  NM_001073600.1  NP_001067068.1 


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

    Paralogs
    for KPNB1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KPNB1 gene

    KPNB1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for KPNB1
    PGOHUM00000233071 PGOHUM00000241457


    Genomic Variants
    for KPNB1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/622 NCBI SNPs in KPNB1 are shown (see all 622)     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
    		F,--45726335(+) AGATTT/GATCAC 1 -- us2k11Minor allele frequency- G:0.02WA 118

    HapMap Linkage Disequilibrium report for KPNB1 (45726842 - 45762871 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for KPNB1
         1 CNV: 4039

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    Disorders / Diseases
    for KPNB1 gene

    (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
    KPNB1 for disorders           About GeneDecksing

    OMIM gene information: 602738    OMIM disorders: --

    20/22 diseases for KPNB1 (see all 22):    About MalaCards
    campomelic dysplasia with autosomal sex reversal    sex reversal    xy sex reversal    spinal muscular atrophy
    campomelic dysplasia    severe acute respiratory syndrome    muscular atrophy    retinitis pigmentosa
    huntington's disease    duodenitis    cervical cancer    cervicitis
    retinitis    influenza    prostate cancer    breast cancer
    prostatitis    immunodeficiency    pancreatitis    malaria

    1 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: KPNB1 (1 document)

    Export disorders for KPNB1 gene to outside databases

    Publications
    for KPNB1 gene

    (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

    PubMed articles for KPNB1 gene, integrated from 9 sources (see all 253):
    (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 Gorlich D....Prehn S. (1995)
    2. Sequence and characterization of cytoplasmic nuclear protein import factor p97. (PubMed id 7615630)1, 2, 3 Chi N.C.... Adam S.A. (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. (2002)
    4. 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. (2006)
    5. Regulation of human SRY subcellular distribution by its acetylation/deacetylation. (PubMed id 15297880)1, 2 Thevenet L....Boizet-Bonhoure B. (2004)
    6. 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. (2004)
    7. 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. (2003)
    8. SMN, the spinal muscular atrophy protein, forms a pre-import snRNP complex with snurportin1 and importin beta. (PubMed id 12095920)1, 2 Narayanan U.... Matera A.G. (2002)
    9. Structural basis for the interaction between FxFG nucleoporin repeats and importin-beta in nuclear trafficking. (PubMed id 10929717)1, 2 Bayliss R.... Stewart M. (2000)
    10. Importin beta can mediate the nuclear import of an arginine-rich nuclear localization signal in the absence of importin alpha. (PubMed id 9891056)1, 2 Palmeri D. and Malim M.H. (1999)

    External Searches for KPNB1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing KPNB1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3837 HGNC: 6400 AceView: KPNB1 Ensembl:ENSG00000108424 euGenes: HUgn3837
    ECgene: KPNB1 Kegg: 3837 H-InvDB: KPNB1

    Other Databases showing KPNB1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KPNB1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KPNB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for KPNB1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for KPNB1 gene

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



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