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Aliases for KPNA7 Gene

Aliases for KPNA7 Gene

  • Karyopherin Subunit Alpha 7 2 3 5
  • Karyopherin Alpha 7 2 3
  • Karyopherin Alpha 7 (Importin Alpha 8) 2
  • Karyopherin Subunit Alpha-7 4
  • Importin Subunit Alpha-8 3
  • Importin Alpha 8 2
  • IPOA8 3

External Ids for KPNA7 Gene

Previous GeneCards Identifiers for KPNA7 Gene

  • GC07M098614
  • GC07M098771
  • GC07M093403

Summaries for KPNA7 Gene

Entrez Gene Summary for KPNA7 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, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016]

GeneCards Summary for KPNA7 Gene

KPNA7 (Karyopherin Subunit Alpha 7) is a Protein Coding gene. Diseases associated with KPNA7 include Partial Corpus Callosum Agenesis-Cerebellar Vermis Hypoplasia With Posterior Fossa Cysts Syndrome and Lennox-Gastaut Syndrome. Among its related pathways are Interferon gamma signaling and Innate Immune System. GO annotations related to this gene include binding and protein transporter activity. An important paralog of this gene is KPNA2.

UniProtKB/Swiss-Prot for KPNA7 Gene

  • Functions in nuclear protein import.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KPNA7 Gene

Genomics for KPNA7 Gene

Regulatory Elements for KPNA7 Gene

Enhancers for KPNA7 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
GH07G099207 1.9 FANTOM5 Ensembl ENCODE dbSUPER 2.5 +9.3 9316 5.9 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF121 FOS SMURF1 ARPC1B TRIM4 PDAP1 BUD31 ARPC1A FAM200A ZNF655 PTCD1 KPNA7
GH07G098959 0.4 FANTOM5 4.5 +259.3 259317 0.2 MNT KPNA7 ATP5J2 GC07P098942 LOC100419643
GH07G099223 1.5 Ensembl ENCODE dbSUPER 0.4 -5.6 -5612 1.9 PKNOX1 ATF1 ARNT YBX1 TCF12 GTF3C2 CBX5 FOS JUNB TSHZ1 ZSCAN25 SMURF1 TRRAP ZNF655 LOC100419643 ENSG00000242798 LOC101927550 ZKSCAN5 AP4M1 LOC100131859
GH07G099219 0.7 ENCODE 0.7 -0.2 -200 0.2 SOX13 ZNF687 SP5 ZSCAN4 MAFG ZNF664 ZNF121 ZNF316 TARDBP TRIM24 SMURF1 KPNA7 MYH16
GH07G099199 1.1 ENCODE dbSUPER 0.4 +18.5 18514 2.8 PKNOX1 NFIB RAD21 ZBTB7B KAT2B FOS RCOR1 HCFC1 ZHX2 CEBPB SMURF1 ARPC1B KPNA7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KPNA7 on UCSC Golden Path with GeneCards custom track

Genomic Location for KPNA7 Gene

Chromosome:
7
Start:
99,173,574 bp from pter
End:
99,219,333 bp from pter
Size:
45,760 bases
Orientation:
Minus strand

Genomic View for KPNA7 Gene

Genes around KPNA7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KPNA7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KPNA7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KPNA7 Gene

Proteins for KPNA7 Gene

  • Protein details for KPNA7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A9QM74-IMA8_HUMAN
    Recommended name:
    Importin subunit alpha-8
    Protein Accession:
    A9QM74
    Secondary Accessions:
    • A4D277

    Protein attributes for KPNA7 Gene

    Size:
    516 amino acids
    Molecular mass:
    56938 Da
    Quaternary structure:
    • Binds very efficiently to importin subunit beta-1/KPNB1 via the IBB domain; this complex dissociates in the presence of RAN-GTP. Shows a limited binding to the RB1 nuclear localization signal (NLS), but not to the SV40, nor NPM1 NLSs.
    SequenceCaution:
    • Sequence=EAL23884.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for KPNA7 Gene

Post-translational modifications for KPNA7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KPNA7 Gene

Domains & Families for KPNA7 Gene

Gene Families for KPNA7 Gene

Suggested Antigen Peptide Sequences for KPNA7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A9QM74

UniProtKB/Swiss-Prot:

IMA8_HUMAN :
  • Belongs to the importin alpha family.
Family:
  • Belongs to the importin alpha family.
genes like me logo Genes that share domains with KPNA7: view

Function for KPNA7 Gene

Molecular function for KPNA7 Gene

UniProtKB/Swiss-Prot Function:
Functions in nuclear protein import.

Gene Ontology (GO) - Molecular Function for KPNA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20701745
GO:0008139 nuclear localization sequence binding IBA --
GO:0008565 protein transporter activity IBA,IEA --
genes like me logo Genes that share ontologies with KPNA7: view

Phenotypes for KPNA7 Gene

GenomeRNAi human phenotypes for KPNA7:
genes like me logo Genes that share phenotypes with KPNA7: view

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KPNA7

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KPNA7 Gene

Localization for KPNA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KPNA7 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 KPNA7 gene
Compartment Confidence
cytosol 5
nucleus 4
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KPNA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005643 nuclear pore IBA --
GO:0005654 nucleoplasm TAS,IBA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IBA,TAS --
genes like me logo Genes that share ontologies with KPNA7: view

Pathways & Interactions for KPNA7 Gene

genes like me logo Genes that share pathways with KPNA7: view

Gene Ontology (GO) - Biological Process for KPNA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006606 protein import into nucleus IEA --
GO:0006607 NLS-bearing protein import into nucleus IBA --
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0019054 modulation by virus of host process TAS --
genes like me logo Genes that share ontologies with KPNA7: view

No data available for SIGNOR curated interactions for KPNA7 Gene

Transcripts for KPNA7 Gene

mRNA/cDNA for KPNA7 Gene

(11) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KPNA7 Gene

Karyopherin alpha 7 (importin alpha 8):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KPNA7

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KPNA7 Gene

No ASD Table

Relevant External Links for KPNA7 Gene

GeneLoc Exon Structure for
KPNA7
ECgene alternative splicing isoforms for
KPNA7

Expression for KPNA7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KPNA7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KPNA7 Gene

This gene is overexpressed in Stomach (x9.7), Esophagus - Mucosa (x9.3), and Ovary (x5.1).

NURSA nuclear receptor signaling pathways regulating expression of KPNA7 Gene:

KPNA7

SOURCE GeneReport for Unigene cluster for KPNA7 Gene:

Hs.253050
genes like me logo Genes that share expression patterns with KPNA7: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KPNA7 Gene

Orthologs for KPNA7 Gene

This gene was present in the common ancestor of animals.

Orthologs for KPNA7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KPNA7 34 35
  • 99.03 (n)
dog
(Canis familiaris)
Mammalia KPNA7 34 35
  • 83.76 (n)
cow
(Bos Taurus)
Mammalia KPNA7 34 35
  • 79.29 (n)
rat
(Rattus norvegicus)
Mammalia Kpna7 34
  • 74.42 (n)
mouse
(Mus musculus)
Mammalia Kpna7 34 16 35
  • 72.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KPNA7 35
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KPNA7 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves KPNA7 34 35
  • 65.29 (n)
lizard
(Anolis carolinensis)
Reptilia KPNA7 35
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kpna7 34
  • 62.24 (n)
zebrafish
(Danio rerio)
Actinopterygii kpna7 34 35
  • 57.91 (n)
worm
(Caenorhabditis elegans)
Secernentea ima-2 35
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 40 (a)
OneToMany
Species where no ortholog for KPNA7 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KPNA7 Gene

ENSEMBL:
Gene Tree for KPNA7 (if available)
TreeFam:
Gene Tree for KPNA7 (if available)

Paralogs for KPNA7 Gene

Paralogs for KPNA7 Gene

(6) SIMAP similar genes for KPNA7 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for KPNA7 Gene

genes like me logo Genes that share paralogs with KPNA7: view

Variants for KPNA7 Gene

Sequence variations from dbSNP and Humsavar for KPNA7 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs760378316 Pathogenic 99,203,201(+) CTTTC(A/G)GAGCT upstream-variant-2KB, reference, stop-gained
rs555539504 Likely benign 99,181,889(+) TGGAG(G/T)ATGCA intron-variant, reference, synonymous-codon
rs181654876 Uncertain significance 99,177,969(+) TTTGA(C/T)GGTTC reference, missense
rs191355534 Uncertain significance 99,188,335(+) CACTA(C/G/T)CAGCC reference, missense
rs587777538 Uncertain significance 99,185,048(+) GGAGG(A/C/G/T)CTTGT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KPNA7 Gene

Variant ID Type Subtype PubMed ID
dgv828n27 CNV loss 19166990
esv2623610 CNV deletion 19546169
esv2660936 CNV deletion 23128226
esv2734876 CNV deletion 23290073
esv2734877 CNV deletion 23290073
esv2734878 CNV deletion 23290073
esv2734879 CNV deletion 23290073
esv2734880 CNV deletion 23290073
esv2734881 CNV deletion 23290073
esv3614272 CNV loss 21293372
esv3614273 CNV gain 21293372
nsv479410 CNV novel sequence insertion 20440878
nsv509216 CNV insertion 20534489
nsv607925 CNV loss 21841781

Variation tolerance for KPNA7 Gene

Gene Damage Index Score: 2.47; 43.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KPNA7 Gene

Human Gene Mutation Database (HGMD)
KPNA7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KPNA7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KPNA7 Gene

Disorders for KPNA7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KPNA7 Gene - From: Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KPNA7 in MalaCards View complete list of genes associated with diseases

Relevant External Links for KPNA7

Genetic Association Database (GAD)
KPNA7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KPNA7
genes like me logo Genes that share disorders with KPNA7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KPNA7 Gene

Publications for KPNA7 Gene

  1. Karyopherin alpha7 (KPNA7), a divergent member of the importin alpha family of nuclear import receptors. (PMID: 20701745) Kelley J.B. … Paschal B.M. (BMC Cell Biol. 2010) 3 4 64
  2. Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). (PMID: 20228798) Franke A. … Schreiber S. (Nat. Genet. 2010) 3 46 64
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64
  4. IPO3-mediated Nonclassical Nuclear Import of NF-I_B Essential Modulator (NEMO) Drives DNA Damage-dependent NF-I_B Activation. (PMID: 26060253) Hwang B. … Miyamoto S. (J. Biol. Chem. 2015) 3 64
  5. Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. (PMID: 24045845) Paciorkowski A.R. … Paschal B.M. (Eur. J. Hum. Genet. 2014) 3 64

Products for KPNA7 Gene

Sources for KPNA7 Gene

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