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Aliases for KPNA1 Gene

Aliases for KPNA1 Gene

  • Karyopherin Subunit Alpha 1 2 3 5
  • Karyopherin Alpha 1 (Importin Alpha 5) 2 3
  • Nucleoprotein Interactor 1 3 4
  • RAG Cohort Protein 2 3 4
  • Importin Alpha 5 2 3
  • SRP1-Beta 3 4
  • NPI-1 3 4
  • RCH2 3 4
  • Recombination Activating Gene Cohort 2 3
  • Karyopherin Subunit Alpha-1 4
  • Importin Subunit Alpha-1 3
  • Importin Subunit Alpha-5 3
  • Karyopherin Alpha 1 2
  • Importin-Alpha-S1 3
  • IPOA5 3
  • SRP1 3

External Ids for KPNA1 Gene

Previous GeneCards Identifiers for KPNA1 Gene

  • GC03M118866
  • GC03M122093
  • GC03M123425
  • GC03M123465
  • GC03M123627
  • GC03M122140
  • GC03M119513

Summaries for KPNA1 Gene

Entrez Gene Summary for KPNA1 Gene

  • The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

GeneCards Summary for KPNA1 Gene

KPNA1 (Karyopherin Subunit Alpha 1) is a Protein Coding gene. Diseases associated with KPNA1 include Influenza and Ovarian Endodermal Sinus Tumor. Among its related pathways are Interferon gamma signaling and Immune System. GO annotations related to this gene include binding and nuclear localization sequence binding. An important paralog of this gene is KPNA6.

UniProtKB/Swiss-Prot for KPNA1 Gene

  • 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.

Gene Wiki entry for KPNA1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KPNA1 Gene

Genomics for KPNA1 Gene

Regulatory Elements for KPNA1 Gene

Enhancers for KPNA1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F122482 0.9 ENCODE 12.4 +31.8 31778 1.5 HDGF TBL1XR1 RFX5 GTF3C2 CBX5 SMARCC2 ETV6 FOS CREM SMARCC1 LOC102723582 WDR5B KPNA1 RPL7AP11 SEC22A CCDC58 FAM162A ENSG00000275348 GC03P122484
GH03F122562 1 ENCODE 11.1 -49.5 -49525 3.0 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 GLIS2 KLF7 ZNF263 LOC102723582 PARP14 WDR5B KPNA1 PARP9 DTX3L
GH03F122468 0.8 Ensembl ENCODE 11.6 +45.2 45227 1.8 PKNOX1 MTA2 GLIS1 IKZF1 NBN MLLT1 LOC102723582 WDR5B KPNA1 PARP14 ENSG00000275348 ENSG00000242531
GH03F122485 0.7 Ensembl 12.3 +29.8 29844 0.2 TAL1 GFI1B CEBPB E2F4 CHAMP1 ARID1B JUND HDAC2 NCOR1 GLIS1 WDR5B KPNA1 FAM162A CCDC58 GC03P122484
GH03F122766 1.4 FANTOM5 Ensembl ENCODE 3.4 -253.6 -253576 4.2 HDAC1 TAL1 CHAMP1 FOSL1 ZNF121 NCOR1 SCRT2 ZNF600 FOS SMARCE1 DIRC2 HSPBAP1 PARP14 PARP9 DTX3L LINC02035 CSTA KPNA1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KPNA1 on UCSC Golden Path with GeneCards custom track

Promoters for KPNA1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001482890 545 2001 HDGF CREB3L1 ARID4B SIN3A ZNF2 ZNF207 ZNF143 ZNF263 SP3 MXD4

Genomic Location for KPNA1 Gene

Chromosome:
3
Start:
122,421,901 bp from pter
End:
122,514,945 bp from pter
Size:
93,045 bases
Orientation:
Minus strand

Genomic View for KPNA1 Gene

Genes around KPNA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KPNA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KPNA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KPNA1 Gene

Proteins for KPNA1 Gene

  • Protein details for KPNA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52294-IMA5_HUMAN
    Recommended name:
    Importin subunit alpha-5
    Protein Accession:
    P52294
    Secondary Accessions:
    • D3DN93
    • Q6IBQ9
    • Q9BQ56

    Protein attributes for KPNA1 Gene

    Size:
    538 amino acids
    Molecular mass:
    60222 Da
    Quaternary structure:
    • Heterodimer; with KPNB1. Interacts with ANP32E. Interacts with ZIC3 (By similarity). Interacts with NSMF; the interaction occurs in a calcium-independent manner after synaptic NMDA receptor stimulation and is required for nuclear import of NSMF but is competed by CABP1 (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). Interacts with SNAI1 (via zinc fingers). Interacts with DCAF8.

    Three dimensional structures from OCA and Proteopedia for KPNA1 Gene

neXtProt entry for KPNA1 Gene

Post-translational modifications for KPNA1 Gene

Antibody Products

  • R&D Systems Antibodies for KPNA1 (Importin alpha 5/KPNA1)
  • Cloud-Clone Corp. Antibodies for KPNA1

No data available for DME Specific Peptides for KPNA1 Gene

Domains & Families for KPNA1 Gene

Gene Families for KPNA1 Gene

Suggested Antigen Peptide Sequences for KPNA1 Gene

Graphical View of Domain Structure for InterPro Entry

P52294

UniProtKB/Swiss-Prot:

IMA5_HUMAN :
  • 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.
  • Belongs to the importin alpha family.
  • Contains 10 ARM repeats.
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.
  • 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).
  • 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).
  • Contains 1 IBB domain.
Family:
  • Belongs to the importin alpha family.
Similarity:
  • Contains 10 ARM repeats.
genes like me logo Genes that share domains with KPNA1: view

Function for KPNA1 Gene

Molecular function for KPNA1 Gene

UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for KPNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12011095
GO:0008139 nuclear localization sequence binding TAS 7754385
GO:0008565 protein transporter activity IEA,IBA --
genes like me logo Genes that share ontologies with KPNA1: view
genes like me logo Genes that share phenotypes with KPNA1: view

Animal Models for KPNA1 Gene

MGI Knock Outs for KPNA1:

Animal Model Products

miRNA for KPNA1 Gene

miRTarBase miRNAs that target KPNA1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KPNA1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KPNA1 Gene

Localization for KPNA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KPNA1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KPNA1 gene
Compartment Confidence
nucleus 5
cytosol 5

Gene Ontology (GO) - Cellular Components for KPNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,ISS --
GO:0005643 nuclear pore TAS 8052633
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IEA,IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with KPNA1: view

Pathways & Interactions for KPNA1 Gene

genes like me logo Genes that share pathways with KPNA1: view

Pathways by source for KPNA1 Gene

Gene Ontology (GO) - Biological Process for KPNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000018 regulation of DNA recombination TAS 8052633
GO:0006309 apoptotic DNA fragmentation TAS --
GO:0006606 protein import into nucleus IEA --
GO:0006607 NLS-bearing protein import into nucleus TAS 7754385
GO:0006810 transport IEA --
genes like me logo Genes that share ontologies with KPNA1: view

No data available for SIGNOR curated interactions for KPNA1 Gene

Drugs & Compounds for KPNA1 Gene

(1) Drugs for KPNA1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with KPNA1: view

Transcripts for KPNA1 Gene

Unigene Clusters for KPNA1 Gene

Karyopherin alpha 1 (importin alpha 5):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KPNA1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KPNA1 Gene

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

Relevant External Links for KPNA1 Gene

GeneLoc Exon Structure for
KPNA1
ECgene alternative splicing isoforms for
KPNA1

Expression for KPNA1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KPNA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KPNA1 Gene

This gene is overexpressed in Muscle - Skeletal (x5.0).

Protein differential expression in normal tissues from HIPED for KPNA1 Gene

This gene is overexpressed in Breast (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KPNA1 Gene



Protein tissue co-expression partners for KPNA1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KPNA1 Gene:

KPNA1

SOURCE GeneReport for Unigene cluster for KPNA1 Gene:

Hs.161008

mRNA Expression by UniProt/SwissProt for KPNA1 Gene:

P52294-IMA5_HUMAN
Tissue specificity: Expressed ubiquitously.
genes like me logo Genes that share expression patterns with KPNA1: view

Primer Products

Orthologs for KPNA1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KPNA1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KPNA1 34 35
  • 99.75 (n)
oppossum
(Monodelphis domestica)
Mammalia KPNA1 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KPNA1 34 35
  • 95.29 (n)
dog
(Canis familiaris)
Mammalia KPNA1 34 35
  • 95.23 (n)
mouse
(Mus musculus)
Mammalia Kpna1 34 16 35
  • 92.87 (n)
rat
(Rattus norvegicus)
Mammalia Kpna1 34
  • 92.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 48 (a)
ManyToMany
chicken
(Gallus gallus)
Aves KPNA1 34 35
  • 82.22 (n)
lizard
(Anolis carolinensis)
Reptilia KPNA1 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kpna1 34
  • 79.74 (n)
zebrafish
(Danio rerio)
Actinopterygii kpna1 34 35
  • 74.3 (n)
fruit fly
(Drosophila melanogaster)
Insecta Kap-alpha1 36 35
  • 61 (a)
Pen 36
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea ima-2 36
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRP1 35
  • 49 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons IMPA-4 34
  • 55.51 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 65 (a)
OneToMany
Species where no ortholog for KPNA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KPNA1 Gene

ENSEMBL:
Gene Tree for KPNA1 (if available)
TreeFam:
Gene Tree for KPNA1 (if available)

Paralogs for KPNA1 Gene

Paralogs for KPNA1 Gene

(6) SIMAP similar genes for KPNA1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with KPNA1: view

Variants for KPNA1 Gene

Sequence variations from dbSNP and Humsavar for KPNA1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs10045 -- 122,426,105(-) AAGGA(A/C/T)GAAAA intron-variant, nc-transcript-variant, utr-variant-3-prime
rs10049131 -- 122,483,255(+) GTGTG(A/T)TTAAT intron-variant
rs10049133 -- 122,483,334(+) TTTTC(A/G)TTGTT intron-variant
rs10439995 -- 122,470,313(+) tgaga(A/C)tatct intron-variant
rs10575172 -- 122,463,348(+) ATCTC(-/A)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KPNA1 Gene

Variant ID Type Subtype PubMed ID
esv3597612 CNV loss 21293372
nsv3974 CNV insertion 18451855
nsv979870 CNV duplication 23825009

Variation tolerance for KPNA1 Gene

Residual Variation Intolerance Score: 19.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.51; 11.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KPNA1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KPNA1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KPNA1 Gene

Disorders for KPNA1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KPNA1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
influenza
  • flu
ovarian endodermal sinus tumor
  • endodermal sinus tumor of ovary
ovarian primitive germ cell tumor
- elite association - COSMIC cancer census association via MalaCards
Search KPNA1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KPNA1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KPNA1
genes like me logo Genes that share disorders with KPNA1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KPNA1 Gene

Publications for KPNA1 Gene

  1. Karyopherin alpha 1 is a putative substrate of the RAG1 ubiquitin ligase. (PMID: 19118899) Simkus C. … Jones J.M. (Mol. Immunol. 2009) 3 4 22 64
  2. Analysis of nuclear transport signals in the human apurinic/apyrimidinic endonuclease (APE1/Ref1). (PMID: 15942031) Jackson E.B. … Izumi T. (Nucleic Acids Res. 2005) 3 4 22 64
  3. NPI-1, the human homolog of SRP-1, interacts with influenza virus nucleoprotein. (PMID: 7831767) O'Neill R.E. … Palese P. (Virology 1995) 3 4 22 64
  4. Mammalian karyopherin alpha 1 beta and alpha 2 beta heterodimers: alpha 1 or alpha 2 subunit binds nuclear localization signal and beta subunit interacts with peptide repeat-containing nucleoporins. (PMID: 7604027) Moroianu J. … Radu A. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 22 64
  5. RAG-1 interacts with the repeated amino acid motif of the human homologue of the yeast protein SRP1. (PMID: 8052633) Cortes P. … Baltimore D. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 64

Products for KPNA1 Gene

Sources for KPNA1 Gene

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