Human Gene KPNB1 (ENST00000290158.9_4) from GENCODE V47lift37
  Description: karyopherin subunit beta 1, transcript variant 1 (from RefSeq NM_002265.6)
Gencode Transcript: ENST00000290158.9_4
Gencode Gene: ENSG00000108424.11_13
Transcript (Including UTRs)
   Position: hg19 chr17:45,727,285-45,762,871 Size: 35,587 Total Exon Count: 22 Strand: +
Coding Region
   Position: hg19 chr17:45,727,611-45,759,770 Size: 32,160 Coding Exon Count: 22 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:45,727,285-45,762,871)mRNA (may differ from genome)Protein (876 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: IMB1_HUMAN
DESCRIPTION: RecName: Full=Importin subunit beta-1; AltName: Full=Importin-90; AltName: Full=Karyopherin subunit beta-1; AltName: Full=Nuclear factor p97; AltName: Full=Pore targeting complex 97 kDa subunit; Short=PTAC97;
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 PRKCI into the nucleus.
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.
INTERACTION: P04626:ERBB2; NbExp=14; IntAct=EBI-286758, EBI-641062; Q16637-3:SMN2; NbExp=5; IntAct=EBI-286758, EBI-395447; O75940:SMNDC1; NbExp=2; IntAct=EBI-286758, EBI-1052641;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus envelope.
PTM: Mono-ADP-ribosylated by PARP16.
SIMILARITY: Belongs to the importin beta family.
SIMILARITY: Contains 8 HEAT repeats.
SIMILARITY: Contains 1 importin N-terminal domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KPNB1
Diseases sorted by gene-association score: hiv-1 (3), alternating hemiplegia of childhood (1), retinitis pigmentosa (0)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 68.01 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1260.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -112.40326-0.345 Picture PostScript Text
3' UTR -862.903101-0.278 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR000225 - Armadillo
IPR021133 - HEAT_type_2
IPR001494 - Importin-beta_N

Pfam Domains:
PF00514 - Armadillo/beta-catenin-like repeat
PF02985 - HEAT repeat
PF03810 - Importin-beta N-terminal domain
PF13513 - HEAT-like repeat

SCOP Domains:
48371 - ARM repeat
48431 - Lipovitellin-phosvitin complex, superhelical domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1F59 - X-ray 1IBR - X-ray MuPIT 1M5N - X-ray MuPIT 1O6O - X-ray MuPIT 1O6P - X-ray MuPIT 1QGK - X-ray MuPIT 1QGR - X-ray MuPIT 2P8Q - X-ray MuPIT 2Q5D - X-ray MuPIT 2QNA - X-ray MuPIT 3LWW - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q14974
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0008139 nuclear localization sequence binding
GO:0008270 zinc ion binding
GO:0008536 Ran GTPase binding
GO:0008565 protein transporter activity
GO:0019899 enzyme binding
GO:0019904 protein domain specific binding
GO:0051879 Hsp90 protein binding

Biological Process:
GO:0000060 protein import into nucleus, translocation
GO:0006309 apoptotic DNA fragmentation
GO:0006606 protein import into nucleus
GO:0006607 NLS-bearing protein import into nucleus
GO:0006610 ribosomal protein import into nucleus
GO:0006886 intracellular protein transport
GO:0007079 mitotic chromosome movement towards spindle pole
GO:0007080 mitotic metaphase plate congression
GO:0015031 protein transport
GO:0016032 viral process
GO:0019054 modulation by virus of host process
GO:0030953 astral microtubule organization
GO:0031291 Ran protein signal transduction
GO:0040001 establishment of mitotic spindle localization
GO:0043312 neutrophil degranulation
GO:0045184 establishment of protein localization
GO:0045540 regulation of cholesterol biosynthetic process
GO:0075733 intracellular transport of virus
GO:0090307 mitotic spindle assembly

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005643 nuclear pore
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0010494 cytoplasmic stress granule
GO:0016020 membrane
GO:0031965 nuclear membrane
GO:0032991 macromolecular complex
GO:0034399 nuclear periphery
GO:0035580 specific granule lumen
GO:0043657 host cell
GO:0070062 extracellular exosome
GO:0071782 endoplasmic reticulum tubular network
GO:1904813 ficolin-1-rich granule lumen


-  Descriptions from all associated GenBank mRNAs
  AK316421 - Homo sapiens cDNA, FLJ79320 complete cds, highly similar to Importin beta-1 subunit.
L38951 - Homo sapiens importin beta subunit mRNA, complete cds.
BC036703 - Homo sapiens karyopherin (importin) beta 1, mRNA (cDNA clone MGC:2155 IMAGE:3162957), complete cds.
AK314780 - Homo sapiens cDNA, FLJ95650, highly similar to Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA.
BC003572 - Homo sapiens karyopherin (importin) beta 1, mRNA (cDNA clone MGC:2156 IMAGE:3352610), complete cds.
BC024045 - Homo sapiens karyopherin (importin) beta 1, mRNA (cDNA clone MGC:2157 IMAGE:3356550), complete cds.
DQ892863 - Synthetic construct clone IMAGE:100005493; FLH190409.01X; RZPDo839H1175D karyopherin (importin) beta 1 (KPNB1) gene, encodes complete protein.
DQ896112 - Synthetic construct Homo sapiens clone IMAGE:100010572; FLH190405.01L; RZPDo839H1165D karyopherin (importin) beta 1 (KPNB1) gene, encodes complete protein.
AB384802 - Synthetic construct DNA, clone: pF1KB3414, Homo sapiens KPNB1 gene for importin subunit beta-1, complete cds, without stop codon, in Flexi system.
BT009797 - Homo sapiens karyopherin (importin) beta 1 mRNA, complete cds.
AK301463 - Homo sapiens cDNA FLJ50715 complete cds, highly similar to Importin beta-1 subunit.
AK299145 - Homo sapiens cDNA FLJ50625 complete cds, highly similar to Importin beta-1 subunit.
JD519711 - Sequence 500735 from Patent EP1572962.
JD129262 - Sequence 110286 from Patent EP1572962.
JD324196 - Sequence 305220 from Patent EP1572962.
JD317544 - Sequence 298568 from Patent EP1572962.
JD394076 - Sequence 375100 from Patent EP1572962.
JD164270 - Sequence 145294 from Patent EP1572962.
JD190505 - Sequence 171529 from Patent EP1572962.
JD120281 - Sequence 101305 from Patent EP1572962.
JD170787 - Sequence 151811 from Patent EP1572962.
JD345114 - Sequence 326138 from Patent EP1572962.
JD237352 - Sequence 218376 from Patent EP1572962.
JD342781 - Sequence 323805 from Patent EP1572962.
JD054562 - Sequence 35586 from Patent EP1572962.
JD352724 - Sequence 333748 from Patent EP1572962.
JD534682 - Sequence 515706 from Patent EP1572962.
JD236093 - Sequence 217117 from Patent EP1572962.
JD069243 - Sequence 50267 from Patent EP1572962.
JD377167 - Sequence 358191 from Patent EP1572962.
JD304214 - Sequence 285238 from Patent EP1572962.
JD345757 - Sequence 326781 from Patent EP1572962.
JD241120 - Sequence 222144 from Patent EP1572962.
JD265797 - Sequence 246821 from Patent EP1572962.
JD561598 - Sequence 542622 from Patent EP1572962.
JD052010 - Sequence 33034 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_ranMSpathway - Role of Ran in mitotic spindle regulation
h_npcPathway - Mechanism of Protein Import into the Nucleus

Reactome (by CSHL, EBI, and GO)

Protein Q14974 (Reactome details) participates in the following event(s):

R-HSA-168310 Release of the RNP into the host cell nucleus
R-HSA-168317 Recruitment of Karyopherin Beta to form a Trimeric Complex
R-HSA-180709 Association of multimerized Rev with beta-importin
R-HSA-2065550 SREBP1A,1C,2 binds Importin beta-1
R-HSA-180736 Disassembly of the Rev-importin beta-B23:Ran-GTP complex
R-HSA-2065539 SREBP1A,1C,2:Importin beta-1 dissociates
R-HSA-168337 Docking and transport of the RNP:Karyopherin complex through the nuclear pore
R-HSA-6791035 Release of NS1 homodimer
R-HSA-180725 Rev associates with B23
R-HSA-211191 Association of DFF with alpha:beta importin
R-HSA-6798749 Exocytosis of specific granule lumen proteins
R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-180728 Association of Ran-GTP with importin-beta
R-HSA-180732 Translocation of Rev:importin-beta:B23 to the nucleus
R-HSA-211206 Translocation of DFF to the nucleus
R-HSA-180710 Rev:importin beta:B23 recruited to the nuclear pore
R-HSA-168271 Transport of Ribonucleoproteins into the Host Nucleus
R-HSA-180746 Nuclear import of Rev protein
R-HSA-1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF)
R-HSA-211227 Activation of DNA fragmentation factor
R-HSA-168276 NS1 Mediated Effects on Host Pathways
R-HSA-168255 Influenza Life Cycle
R-HSA-1169408 ISG15 antiviral mechanism
R-HSA-177243 Interactions of Rev with host cellular proteins
R-HSA-8957322 Metabolism of steroids
R-HSA-6798695 Neutrophil degranulation
R-HSA-140342 Apoptosis induced DNA fragmentation
R-HSA-168253 Host Interactions with Influenza Factors
R-HSA-168254 Influenza Infection
R-HSA-1169410 Antiviral mechanism by IFN-stimulated genes
R-HSA-162909 Host Interactions of HIV factors
R-HSA-556833 Metabolism of lipids
R-HSA-168249 Innate Immune System
R-HSA-75153 Apoptotic execution phase
R-HSA-5663205 Infectious disease
R-HSA-913531 Interferon Signaling
R-HSA-162906 HIV Infection
R-HSA-1430728 Metabolism
R-HSA-168256 Immune System
R-HSA-109581 Apoptosis
R-HSA-1643685 Disease
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-5357801 Programmed Cell Death

-  Other Names for This Gene
  Alternate Gene Symbols: B7ZAV6, D3DTT3, ENST00000290158.1, ENST00000290158.2, ENST00000290158.3, ENST00000290158.4, ENST00000290158.5, ENST00000290158.6, ENST00000290158.7, ENST00000290158.8, IMB1_HUMAN, NM_002265, NTF97, Q14637, Q14974, Q53XN2, Q96J27, uc317ktv.1, uc317ktv.2
UCSC ID: ENST00000290158.9_4
RefSeq Accession: NM_002265.6
Protein: Q14974 (aka IMB1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.