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Aliases for KPNA7 Gene

Aliases for KPNA7 Gene

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

External Ids for KPNA7 Gene

Previous GeneCards Identifiers for KPNA7 Gene

  • GC07M098614
  • GC07M098771
  • GC07M093403

Summaries for KPNA7 Gene

GeneCards Summary for KPNA7 Gene

KPNA7 (Karyopherin Alpha 7 (Importin Alpha 8)) is a Protein Coding gene. Diseases associated with KPNA7 include partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome. Among its related pathways are Interferon Signaling and Interferon Signaling. GO annotations related to this gene include protein transporter activity. An important paralog of this gene is KPNA1.

UniProtKB/Swiss-Prot for KPNA7 Gene

  • Functions in nuclear protein import.

No data available for Entrez Gene 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

Genomic Location for KPNA7 Gene

Start:
99,173,574 bp from pter
End:
99,209,896 bp from pter
Size:
36,323 bases
Orientation:
Minus strand

Genomic View for KPNA7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for KPNA7 Gene at MOPED

Post-translational modifications for KPNA7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KPNA7 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KPNA7 Gene

Domains for KPNA7 Gene

Gene Families for KPNA7 Gene

HGNC:
  • ARMC :Armadillo repeat containing
  • IPO :Importins

Protein Domains 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 :
  • A9QM74
Domain:
  • Contains 1 IBB domain.
Family:
  • Belongs to the importin alpha family.
Similarity:
  • Contains 8 ARM repeats.
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:0005488 binding --
GO:0005515 protein binding --
GO:0008565 protein transporter activity 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

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KPNA7 Gene

Localization for KPNA7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KPNA7 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KPNA7 Gene COMPARTMENTS Subcellular localization image for KPNA7 gene
Compartment Confidence
nucleus 5
cytosol 4
endoplasmic reticulum 1
golgi apparatus 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for KPNA7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with KPNA7: view

Pathways 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:0019221 cytokine-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with KPNA7: view

Transcripts for KPNA7 Gene

mRNA/cDNA for KPNA7 Gene

(9) 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:

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 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 (9.7), Esophagus - Mucosa (9.3), and Ovary (5.1).

SOURCE GeneReport for Unigene cluster for KPNA7 Gene Hs.253050

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

No data available for Protein expression and mRNA Expression by UniProt/SwissProt 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 35
  • 99.03 (n)
  • 98.84 (a)
KPNA7 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KPNA7 35
  • 79.29 (n)
  • 76.73 (a)
KPNA7 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KPNA7 35
  • 83.76 (n)
  • 82.05 (a)
KPNA7 36
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kpna7 35
  • 72.34 (n)
  • 63.32 (a)
Kpna7 16
Kpna7 36
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KPNA7 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KPNA7 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kpna7 35
  • 74.42 (n)
  • 66.33 (a)
chicken
(Gallus gallus)
Aves KPNA7 35
  • 65.29 (n)
  • 61.54 (a)
KPNA7 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KPNA7 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kpna7 35
  • 62.24 (n)
  • 61.39 (a)
zebrafish
(Danio rerio)
Actinopterygii kpna7 35
  • 57.91 (n)
  • 52.77 (a)
kpna7 36
  • 52 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ima-2 36
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
Species with no ortholog for KPNA7:
  • 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

Selected 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 MAF
rs1343834 -- 99,203,373(+) CACAG(G/T)TAGTA intron-variant
rs1880784 -- 99,190,090(-) aagtg(C/T)tgggg intron-variant
rs1880785 -- 99,196,488(-) TGCCT(A/C)TGTGG intron-variant
rs2395020 -- 99,210,216(+) GTACT(C/T)GGGCC upstream-variant-2KB
rs4727427 -- 99,174,816(+) ttatt(A/T)ttttt intron-variant

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

Variant ID Type Subtype PubMed ID
dgv828n27 CNV Loss 19166990
nsv509216 CNV Insertion 20534489
esv2734876 CNV Deletion 23290073
esv2734877 CNV Deletion 23290073
esv2734878 CNV Deletion 23290073
esv2734879 CNV Deletion 23290073
esv2623610 CNV Deletion 19546169
esv2734880 CNV Deletion 23290073
esv2734881 CNV Deletion 23290073
esv2660936 CNV Deletion 23128226

Relevant External Links for KPNA7 Gene

HapMap Linkage Disequilibrium report
KPNA7
Human Gene Mutation Database (HGMD)
KPNA7

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

Disorders for KPNA7 Gene

Relevant External Links for KPNA7

Genetic Association Database (GAD)
KPNA7
genes like me logo Genes that share disorders with KPNA7: view

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

Publications for KPNA7 Gene

  1. 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 48
  2. 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
  3. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  4. Isolation and characterization of a novel H1.2 complex that acts as a repressor of p53-mediated transcription. (PMID: 18258596) Kim K. … An W. (J. Biol. Chem. 2008) 3
  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

Products for KPNA7 Gene

Sources for KPNA7 Gene

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