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Aliases for KPNA6 Gene

Aliases for KPNA6 Gene

  • Karyopherin Subunit Alpha 6 2 3 5
  • Karyopherin Alpha 6 (Importin Alpha 7) 2 3
  • IPOA7 3 4
  • Karyopherin Subunit Alpha-6 4
  • Importin Alpha 7 Subunit 3
  • Importin Subunit Alpha-7 3
  • Karyopherin Alpha 6 2
  • Importin-Alpha-S2 3
  • Importin Alpha 7 2
  • KPNA7 3

External Ids for KPNA6 Gene

Previous GeneCards Identifiers for KPNA6 Gene

  • GC01P032388
  • GC01P031561
  • GC01P032000
  • GC01P032076
  • GC01P032242
  • GC01P032346
  • GC01P032573
  • GC01P030689

Summaries for KPNA6 Gene

Entrez Gene Summary for KPNA6 Gene

  • 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. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq, Jul 2008]

GeneCards Summary for KPNA6 Gene

KPNA6 (Karyopherin Subunit Alpha 6) is a Protein Coding gene. Diseases associated with KPNA6 include Lennox-Gastaut Syndrome. Among its related pathways are Cell cycle_Spindle assembly and chromosome separation. GO annotations related to this gene include binding and protein transporter activity. An important paralog of this gene is KPNA5.

UniProtKB/Swiss-Prot for KPNA6 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.

Gene Wiki entry for KPNA6 Gene

Additional gene information for KPNA6 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KPNA6 Gene

Genomics for KPNA6 Gene

Regulatory Elements for KPNA6 Gene

Enhancers for KPNA6 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
GH01H032813 1.7 FANTOM5 ENCODE dbSUPER 30.2 +709.2 709204 7 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A RBBP4 KHDRBS1 ZBTB8A TXLNA TMEM39B S100PBP KPNA6 ZSCAN20 TSSK3 FAM229A
GH01H033035 1.4 ENCODE dbSUPER 33.1 +928.4 928382 2 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 TXLNA KPNA6 RBBP4 ZBTB8A ZSCAN20 EIF3I TSSK3 FAM229A ZBTB8B MTMR9LP
GH01H032132 1.3 Ensembl ENCODE 25.3 +25.4 25373 2 HDGF PKNOX1 ARNT SIN3A ZNF766 CBX5 FOS ZNF548 REST ZNF592 SNRNP40 TXLNA KPNA6 KHDRBS1 ENSG00000229447 IQCC TSSK3 EIF3I CCDC28B AK2
GH01H032204 1.3 ENCODE dbSUPER 25.2 +97.7 97742 2 HDGF MLX ARID4B SIN3A DMAP1 YY1 SP5 SMARCB1 ZNF592 KAT8 KPNA6 LOC105378626 IQCC PIR35641
GH01H031643 1.6 Ensembl ENCODE dbSUPER 20 -459.8 -459830 10 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SNRNP40 KPNA6 TXLNA TSSK3 EIF3I FAM229A COL16A1 LOC105378626 TINAGL1 KHDRBS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KPNA6 on UCSC Golden Path with GeneCards custom track

Promoters for KPNA6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000004315 462 2201 HDGF FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143

Genomic Location for KPNA6 Gene

Chromosome:
1
Start:
32,108,038 bp from pter
End:
32,176,568 bp from pter
Size:
68,531 bases
Orientation:
Plus strand

Genomic View for KPNA6 Gene

Genes around KPNA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KPNA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KPNA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KPNA6 Gene

Proteins for KPNA6 Gene

  • Protein details for KPNA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60684-IMA7_HUMAN
    Recommended name:
    Importin subunit alpha-7
    Protein Accession:
    O60684
    Secondary Accessions:
    • B2RDC7
    • D3DPP5
    • Q5VVU3

    Protein attributes for KPNA6 Gene

    Size:
    536 amino acids
    Molecular mass:
    60030 Da
    Quaternary structure:
    • Interacts with ZIC3 (By similarity). Forms a complex with importin subunit beta-1.

    Three dimensional structures from OCA and Proteopedia for KPNA6 Gene

neXtProt entry for KPNA6 Gene

Post-translational modifications for KPNA6 Gene

  • Ubiquitination at isoforms=18 and isoforms=49
  • Modification sites at PhosphoSitePlus

Other Protein References for KPNA6 Gene

No data available for DME Specific Peptides for KPNA6 Gene

Domains & Families for KPNA6 Gene

Gene Families for KPNA6 Gene

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

Suggested Antigen Peptide Sequences for KPNA6 Gene

Graphical View of Domain Structure for InterPro Entry

O60684

UniProtKB/Swiss-Prot:

IMA7_HUMAN :
  • Belongs to the importin alpha family.
Family:
  • Belongs to the importin alpha family.
genes like me logo Genes that share domains with KPNA6: view

Function for KPNA6 Gene

Molecular function for KPNA6 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.

Gene Ontology (GO) - Molecular Function for KPNA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10523667
GO:0008139 nuclear localization sequence binding IBA --
GO:0008565 protein transporter activity IEA,IBA --
genes like me logo Genes that share ontologies with KPNA6: view
genes like me logo Genes that share phenotypes with KPNA6: view

Animal Models for KPNA6 Gene

MGI Knock Outs for KPNA6:

Animal Model Products

CRISPR Products

miRNA for KPNA6 Gene

miRTarBase miRNAs that target KPNA6

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KPNA6
  • Applied Biological Materials Clones for KPNA6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KPNA6 Gene

Localization for KPNA6 Gene

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 KPNA6 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KPNA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005643 nuclear pore IBA --
GO:0005654 nucleoplasm IBA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IBA --
genes like me logo Genes that share ontologies with KPNA6: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KPNA6 Gene

Pathways & Interactions for KPNA6 Gene

genes like me logo Genes that share pathways with KPNA6: view

Pathways by source for KPNA6 Gene

1 GeneGo (Thomson Reuters) pathway for KPNA6 Gene

SIGNOR curated interactions for KPNA6 Gene

Activates:

Gene Ontology (GO) - Biological Process for KPNA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006606 protein import into nucleus IEA --
GO:0006607 NLS-bearing protein import into nucleus TAS 9395085
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with KPNA6: view

Drugs & Compounds for KPNA6 Gene

(1) Drugs for KPNA6 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 KPNA6: view

Transcripts for KPNA6 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KPNA6
  • Applied Biological Materials Clones for KPNA6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for KPNA6 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b
SP1: - - -
SP2: - - - -
SP3: -
SP4:
SP5:

Relevant External Links for KPNA6 Gene

GeneLoc Exon Structure for
KPNA6
ECgene alternative splicing isoforms for
KPNA6

Expression for KPNA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KPNA6 Gene

Protein differential expression in normal tissues from HIPED for KPNA6 Gene

This gene is overexpressed in Fetal ovary (9.7) and Peripheral blood mononuclear cells (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KPNA6 Gene



Protein tissue co-expression partners for KPNA6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KPNA6 Gene:

KPNA6

SOURCE GeneReport for Unigene cluster for KPNA6 Gene:

Hs.470588

mRNA Expression by UniProt/SwissProt for KPNA6 Gene:

O60684-IMA7_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for KPNA6 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Lung(2.4)
genes like me logo Genes that share expression patterns with KPNA6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for KPNA6 Gene

Orthologs for KPNA6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for KPNA6 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 100 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia KPNA6 33 34
  • 99.88 (n)
cow
(Bos Taurus)
Mammalia KPNA6 33 34
  • 94.9 (n)
dog
(Canis familiaris)
Mammalia KPNA6 33 34
  • 94.64 (n)
oppossum
(Monodelphis domestica)
Mammalia KPNA6 34
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kpna6 33
  • 92.52 (n)
mouse
(Mus musculus)
Mammalia Kpna6 33 16 34
  • 91.79 (n)
chicken
(Gallus gallus)
Aves KPNA6 33 34
  • 80.62 (n)
lizard
(Anolis carolinensis)
Reptilia KPNA6 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kpna6 33
  • 76.49 (n)
zebrafish
(Danio rerio)
Actinopterygii KPNA6 34
  • 89 (a)
OneToOne
LOC100149852 33
  • 75.87 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005401 33
  • 61.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta Kap-alpha1 35 33 34
  • 60.65 (n)
Pen 35
  • 47 (a)
worm
(Caenorhabditis elegans)
Secernentea ima-2 35
  • 36 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SRP1 34 36
  • 51 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons IMPA-2 33
  • 57.54 (n)
rice
(Oryza sativa)
Liliopsida Os01g0253300 33
  • 58.86 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 66 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes imp1 33
  • 55.67 (n)
Species where no ortholog for KPNA6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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 KPNA6 Gene

ENSEMBL:
Gene Tree for KPNA6 (if available)
TreeFam:
Gene Tree for KPNA6 (if available)

Paralogs for KPNA6 Gene

Paralogs for KPNA6 Gene

(6) SIMAP similar genes for KPNA6 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with KPNA6: view

Variants for KPNA6 Gene

Sequence variations from dbSNP and Humsavar for KPNA6 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000082384 -- 32,138,076(+) GTTGC(C/G)ATGAG intron-variant
rs1000166616 -- 32,151,904(+) AGATA(C/G)AACAG intron-variant
rs1000215220 -- 32,168,451(+) TCCCA(C/G)AGTGC intron-variant
rs1000265528 -- 32,161,552(+) ACTGT(A/G)TGGCT intron-variant
rs1000305565 -- 32,144,810(+) CATGC(C/T)CAGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KPNA6 Gene

Variant ID Type Subtype PubMed ID
esv3585667 CNV loss 21293372
esv3585668 CNV gain 21293372
nsv1122325 CNV deletion 24896259

Variation tolerance for KPNA6 Gene

Residual Variation Intolerance Score: 20.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.54; 11.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KPNA6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KPNA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KPNA6 Gene

Disorders for KPNA6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KPNA6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
lennox-gastaut syndrome
  • lennox syndrome
- elite association - COSMIC cancer census association via MalaCards
Search KPNA6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KPNA6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KPNA6
genes like me logo Genes that share disorders with KPNA6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KPNA6 Gene

Publications for KPNA6 Gene

  1. Evidence for distinct substrate specificities of importin alpha family members in nuclear protein import. (PMID: 10523667) Köhler M … Hartmann E (Molecular and cellular biology 1999) 2 3 4 22 60
  2. Regulation of Stat3 nuclear import by importin alpha5 and importin alpha7 via two different functional sequence elements. (PMID: 16298512) Ma J … Cao X (Cellular signalling 2006) 3 22 60
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  5. Acetylation of importin-alpha nuclear import factors by CBP/p300. (PMID: 10801418) Bannister AJ … Kouzarides T (Current biology : CB 2000) 3 22 60

Products for KPNA6 Gene

  • Addgene plasmids for KPNA6

Sources for KPNA6 Gene

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