Human Gene KPNA1 (ENST00000344337.11_7) from GENCODE V47lift37
  Description: karyopherin subunit alpha 1, transcript variant 1 (from RefSeq NM_002264.4)
Gencode Transcript: ENST00000344337.11_7
Gencode Gene: ENSG00000114030.13_13
Transcript (Including UTRs)
   Position: hg19 chr3:122,140,749-122,233,786 Size: 93,038 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr3:122,145,832-122,215,412 Size: 69,581 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
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 (chr3:122,140,749-122,233,786)mRNA (may differ from genome)Protein (538 aa)
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-  Comments and Description Text from UniProtKB
  ID: IMA1_HUMAN
DESCRIPTION: RecName: Full=Importin subunit alpha-1; AltName: Full=Karyopherin subunit alpha-1; AltName: Full=Nucleoprotein interactor 1; Short=NPI-1; AltName: Full=RAG cohort protein 2; AltName: Full=SRP1-beta;
FUNCTION: Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. 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. In vitro, mediates the nuclear import of human cytomegalovirus UL84 by recognizing a non- classical NLS.
SUBUNIT: Heterodimer; with KPNB1. Interacts with ANP32E. Interacts with ZIC3 (By similarity). Interacts with the nucleoprotein of influenza A viruses. Binds to HCMV (human cytomegalovirus) UL84, HIV-1 Vpr and to ebolavirus VP24. Interacts with APEX1 and RAG1. Interacts with CTNNBL1 (via its N-terminal). Interacts with AICDA (via its NLS).
SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
TISSUE SPECIFICITY: Expressed ubiquitously.
DOMAIN: Consists of an N-terminal hydrophilic region, a hydrophobic central region composed of 10 repeats, and a short hydrophilic C-terminus. The N-terminal hydrophilic region contains the importin beta binding domain (IBB domain), which is sufficient for binding importin beta and essential for nuclear protein import.
DOMAIN: The IBB domain is thought to act as an intrasteric autoregulatory sequence by interacting with the internal autoinhibitory NLS. Binding of KPNB1 probably overlaps the internal NLS and contributes to a high affinity for cytoplasmic NLS-containing cargo substrates. After dissociation of the importin/substrate complex in the nucleus the internal autohibitory NLS contributes to a low affinity for nuclear NLS- containing proteins (By similarity).
DOMAIN: The major and minor NLS binding sites are mainly involved in recognition of simple or bipartite NLS motifs. Structurally located within in a helical surface groove they contain several conserved Trp and Asn residues of the corresponding third helices (H3) of ARM repeats which mainly contribute to binding (By similarity).
PTM: Polyubiquitinated in the presence of RAG1 (in vitro).
SIMILARITY: Belongs to the importin alpha family.
SIMILARITY: Contains 10 ARM repeats.
SIMILARITY: Contains 1 IBB 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: KPNA1
Diseases sorted by gene-association score: influenza (6), ovarian endodermal sinus tumor (2), ovarian primitive germ cell tumor (2), retinitis pigmentosa (0)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 21.51 RPKM in Muscle - Skeletal
Total median expression: 458.73 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 -85.60188-0.455 Picture PostScript Text
3' UTR -1285.405083-0.253 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
IPR002652 - Importin-a_IBB
IPR024931 - Importing_su_alpha

Pfam Domains:
PF00514 - Armadillo/beta-catenin-like repeat
PF01749 - Importin beta binding domain
PF02985 - HEAT repeat
PF16186 - Atypical Arm repeat

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

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2JDQ - X-ray MuPIT 3TJ3 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P52294
FrontTopSide
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 orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008139 nuclear localization sequence binding
GO:0008565 protein transporter activity
GO:0061608 nuclear import signal receptor activity

Biological Process:
GO:0000018 regulation of DNA recombination
GO:0006309 apoptotic DNA fragmentation
GO:0006606 protein import into nucleus
GO:0006607 NLS-bearing protein import into nucleus
GO:0015031 protein transport
GO:0016032 viral process
GO:0019054 modulation by virus of host process
GO:0075733 intracellular transport of virus

Cellular Component:
GO:0005634 nucleus
GO:0005643 nuclear pore
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0030425 dendrite
GO:0043657 host cell


-  Descriptions from all associated GenBank mRNAs
  U20620 - Homo sapiens SRP1 mRNA, partial sequence.
AK125626 - Homo sapiens cDNA FLJ43638 fis, clone SPLEN2039845, highly similar to IMPORTIN ALPHA-1 SUBUNIT.
S75295 - nucleoprotein interactor 1=SRP1 homolog [human, cervical carcinoma HeLa cells, mRNA, 2940 nt].
BC090864 - Homo sapiens karyopherin alpha 1 (importin alpha 5), mRNA (cDNA clone MGC:102833 IMAGE:6173605), complete cds.
AK128280 - Homo sapiens cDNA FLJ46417 fis, clone THYMU3012402, highly similar to Importin alpha-1 subunit.
BC002374 - Homo sapiens karyopherin alpha 1 (importin alpha 5), mRNA (cDNA clone MGC:8554 IMAGE:2822859), complete cds.
BC003009 - Homo sapiens karyopherin alpha 1 (importin alpha 5), mRNA (cDNA clone MGC:4009 IMAGE:2822859), complete cds.
AK299030 - Homo sapiens cDNA FLJ55353 complete cds, highly similar to Importin alpha-1 subunit.
AK312713 - Homo sapiens cDNA, FLJ93115.
KJ897104 - Synthetic construct Homo sapiens clone ccsbBroadEn_06498 KPNA1 gene, encodes complete protein.
BT006959 - Homo sapiens karyopherin alpha 1 (importin alpha 5) mRNA, complete cds.
CR456743 - Homo sapiens full open reading frame cDNA clone RZPDo834E0214D for gene KPNA1, karyopherin alpha 1 (importin alpha 5); complete cds, incl. stopcodon.
DQ891406 - Synthetic construct clone IMAGE:100004036; FLH176633.01X; RZPDo839F07122D karyopherin alpha 1 (importin alpha 5) (KPNA1) gene, encodes complete protein.
DQ896822 - Synthetic construct Homo sapiens clone IMAGE:100011282; FLH176629.01L; RZPDo839F07121D karyopherin alpha 1 (importin alpha 5) (KPNA1) gene, encodes complete protein.
AB527262 - Synthetic construct DNA, clone: pF1KB3580, Homo sapiens KPNA1 gene for karyopherin alpha 1, without stop codon, in Flexi system.
BC029937 - Homo sapiens karyopherin alpha 1 (importin alpha 5), mRNA (cDNA clone IMAGE:4751214).
AF035311 - Homo sapiens clone 23611 mRNA sequence.
JD120633 - Sequence 101657 from Patent EP1572962.
JD400250 - Sequence 381274 from Patent EP1572962.
JD313107 - Sequence 294131 from Patent EP1572962.
JD510587 - Sequence 491611 from Patent EP1572962.
JD358152 - Sequence 339176 from Patent EP1572962.
JD055427 - Sequence 36451 from Patent EP1572962.
JD302575 - Sequence 283599 from Patent EP1572962.
JD289727 - Sequence 270751 from Patent EP1572962.
JD496308 - Sequence 477332 from Patent EP1572962.
JD038109 - Sequence 19133 from Patent EP1572962.
JD526446 - Sequence 507470 from Patent EP1572962.
JD411520 - Sequence 392544 from Patent EP1572962.
JD235525 - Sequence 216549 from Patent EP1572962.
CU677934 - Synthetic construct Homo sapiens gateway clone IMAGE:100020297 5' read KPNA1 mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P52294 (Reactome details) participates in the following event(s):

R-HSA-168297 Recognition of the Nuclear Localization Signal (NLS) by a Karyopherin Alpha Family Protein
R-HSA-180627 Interaction of Vpr with importin alpha
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-211191 Association of DFF with alpha:beta importin
R-HSA-168337 Docking and transport of the RNP:Karyopherin complex through the nuclear pore
R-HSA-211206 Translocation of DFF to the nucleus
R-HSA-6791035 Release of NS1 homodimer
R-HSA-168271 Transport of Ribonucleoproteins into the Host Nucleus
R-HSA-180910 Vpr-mediated nuclear import of PICs
R-HSA-211227 Activation of DNA fragmentation factor
R-HSA-168255 Influenza Life Cycle
R-HSA-176033 Interactions of Vpr with host cellular proteins
R-HSA-140342 Apoptosis induced DNA fragmentation
R-HSA-168276 NS1 Mediated Effects on Host Pathways
R-HSA-1169408 ISG15 antiviral mechanism
R-HSA-168254 Influenza Infection
R-HSA-162909 Host Interactions of HIV factors
R-HSA-75153 Apoptotic execution phase
R-HSA-168253 Host Interactions with Influenza Factors
R-HSA-1169410 Antiviral mechanism by IFN-stimulated genes
R-HSA-5663205 Infectious disease
R-HSA-162906 HIV Infection
R-HSA-109581 Apoptosis
R-HSA-913531 Interferon Signaling
R-HSA-1643685 Disease
R-HSA-5357801 Programmed Cell Death
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: D3DN93, ENST00000344337.1, ENST00000344337.10, ENST00000344337.2, ENST00000344337.3, ENST00000344337.4, ENST00000344337.5, ENST00000344337.6, ENST00000344337.7, ENST00000344337.8, ENST00000344337.9, IMA5_HUMAN, NM_002264, P52294, Q6IBQ9, Q9BQ56, RCH2, uc317wxj.1, uc317wxj.2
UCSC ID: ENST00000344337.11_7
RefSeq Accession: NM_002264.4
Protein: P52294 (aka IMA1_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.