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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 Ovarian Endodermal Sinus Tumor and Ovarian Primitive Germ Cell Tumor. Among its related pathways are Transport of the SLBP independent Mature mRNA and HIV Life Cycle. Gene Ontology (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

Additional gene information for KPNA1 Gene

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

Genomics for KPNA1 Gene

GeneHancer (GH) Regulatory Elements for KPNA1 Gene

Promoters and enhancers for KPNA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J122513 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.5 534 2.3 HDGF ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 ZNF207 ZNF143 KPNA1 LOC105374071 WDR5B LOC102723582 ENSG00000273454 PARP14 GC03P122484
GH03J122512 Promoter 0.7 EPDnew 650.7 +3.3 3281 0.1 FOSL1 NFIC KPNA1 LOC102723582 GC03P122484
GH03J122562 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 11.2 -49.5 -49525 3 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 ZNF143 ZNF263 SP3 PARP9 DTX3L LOC102723582 IQCB1 SEC22A GOLGB1 PARP14 WDR5B KPNA1
GH03J122482 Enhancer 1 Ensembl ENCODE 12.4 +31.8 31777 1.5 HDGF SMAD1 STAT5A BATF IRF4 RFX5 GTF3C2 SMARCC2 ATF7 FOS GC03P122484 ENSG00000275348 LOC102723582 WDR5B GOLGB1 IQCB1 KPNA1 RPL7AP11 SEC22A CCDC58
GH03J122485 Enhancer 0.7 Ensembl 12.3 +29.8 29844 0.2 HDAC1 TAL1 CHAMP1 FOSL1 TCF12 NCOR1 CBFA2T2 FOS ZNF600 GFI1B GC03P122484 WDR5B KPNA1 GOLGB1 IQCB1 CCDC58 FAM162A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KPNA1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KPNA1 gene promoter:
  • STAT3
  • Nkx6-1
  • USF1
  • USF-1
  • Max1
  • POU2F1b
  • POU2F1
  • POU2F1a
  • POU2F1c
  • Evi-1

Genomic Locations for KPNA1 Gene

Genomic Locations for KPNA1 Gene
chr3:122,421,901-122,514,945
(GRCh38/hg38)
Size:
93,045 bases
Orientation:
Minus strand
chr3:122,140,748-122,233,792
(GRCh37/hg19)
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

No data available for DME Specific Peptides for KPNA1 Gene

Domains & Families for KPNA1 Gene

Gene Families for KPNA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

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.
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).
Family:
  • Belongs to the importin alpha family.
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.

Phenotypes From GWAS Catalog for KPNA1 Gene

Gene Ontology (GO) - Molecular Function for KPNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding IEA --
GO:0005515 protein binding IEA,IPI 8052633
GO:0008139 nuclear localization sequence binding TAS 7754385
GO:0008565 protein transporter activity IEA,IBA --
GO:0061608 nuclear import signal receptor activity IEA --
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

Clone Products

  • Addgene plasmids for KPNA1

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleus (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KPNA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,IDA --
GO:0005643 nuclear pore TAS 8052633
GO:0005654 nucleoplasm TAS,IDA --
GO:0005737 cytoplasm IEA,TAS 7754385
GO:0005829 cytosol TAS,IDA --
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:0015031 protein 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:

Clone Products

  • Addgene plasmids for KPNA1

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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for KPNA1 Gene

  • Nervous system(4.5)
  • Liver(4.4)
  • Bone marrow(4.2)
  • Lung(4.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with KPNA1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KPNA1 Gene

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 33
  • 99.75 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KPNA1 34
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KPNA1 34 33
  • 95.29 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KPNA1 34 33
  • 95.23 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Kpna1 16 34 33
  • 92.87 (n)
rat
(Rattus norvegicus)
Mammalia Kpna1 33
  • 92.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 48 (a)
ManyToMany
chicken
(Gallus gallus)
Aves KPNA1 34 33
  • 82.22 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KPNA1 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kpna1 33
  • 79.74 (n)
zebrafish
(Danio rerio)
Actinopterygii kpna1 34 33
  • 74.3 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Kap-alpha1 34 35
  • 61 (a)
OneToMany
Pen 35
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea ima-2 35
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRP1 34
  • 49 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons IMPA-4 33
  • 55.51 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KPNA1: view image

Paralogs for KPNA1 Gene

Paralogs for KPNA1 Gene

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

  • IMA5_HUMAN
  • C9J352_HUMAN
  • C9J4U1_HUMAN
  • C9JWD9_HUMAN
  • C9JYI4_HUMAN
  • F2Z3G4_HUMAN
  • L8EC94_HUMAN
  • Q5BKZ2_HUMAN
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 Variation AA Info Type
rs1000001019 -- 122,495,428(-) A/T genic_upstream_transcript_variant, intron_variant
rs1000001640 -- 122,453,260(-) A/T intron_variant
rs1000032121 -- 122,495,056(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000065394 -- 122,422,702(-) G/A/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000091868 -- 122,513,927(-) C/A genic_upstream_transcript_variant, 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)

Additional Variant Information for KPNA1 Gene

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

SNP Genotyping and Copy Number Assay Products

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
ovarian endodermal sinus tumor
  • endodermal sinus tumor of ovary
ovarian primitive germ cell tumor
human immunodeficiency virus type 1
  • human immunodeficiency virus type 1, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search KPNA1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 JM (Molecular immunology 2009) 3 4 22 58
  2. Analysis of nuclear transport signals in the human apurinic/apyrimidinic endonuclease (APE1/Ref1). (PMID: 15942031) Jackson EB … Izumi T (Nucleic acids research 2005) 3 4 22 58
  3. 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 (Proceedings of the National Academy of Sciences of the United States of America 1995) 3 4 22 58
  4. NPI-1, the human homolog of SRP-1, interacts with influenza virus nucleoprotein. (PMID: 7831767) O'Neill RE … Palese P (Virology 1995) 3 4 22 58
  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 (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 58

Products for KPNA1 Gene

  • Addgene plasmids for KPNA1

Sources for KPNA1 Gene

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