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KPNA7 Gene

protein-coding   GIFtS: 43
GCID: GC07M098771

Karyopherin Alpha 7 (Importin Alpha 8)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Karyopherin Alpha 7 (Importin Alpha 8)1 2
Karyopherin Subunit Alpha-72 3
Importin Subunit Alpha-82
Karyopherin 72

External Ids:    HGNC: 218391   Entrez Gene: 4025692   Ensembl: ENSG000001854677   OMIM: 6141075   UniProtKB: A9QM743   

Export aliases for KPNA7 gene to outside databases

Previous GC identifers: GC07M098614 GC07M093403


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KPNA7 Gene:
KPNA7 (karyopherin alpha 7 (importin alpha 8)) is a protein-coding gene. Diseases associated with KPNA7 include ulcerative colitis, and influenza. GO annotations related to this gene include protein transporter activity. An important paralog of this gene is KPNA3.

UniProtKB/Swiss-Prot: IMA8_HUMAN, A9QM74
Function: Functions in nuclear protein import (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KPNA7 gene promoter:
         AhR   SRF   POU2F1   SRF (504 AA)   POU2F1a   Arnt   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KPNA7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KPNA7


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22.1

KPNA7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KPNA7 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M098771:  view genomic region     (about GC identifiers)

Start:
98,771,197 bp from pter      End:
98,805,129 bp from pter
Size:
33,933 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 98,127,179-98,161,076     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IMA8_HUMAN, A9QM74 (See protein sequence)
Recommended Name: Importin subunit alpha-8  
Size: 516 amino acids; 56938 Da
Subunit: 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
Sequence caution: Sequence=EAL23884.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A4D277

Explore the universe of human proteins at neXtProt for KPNA7: NX_A9QM74

Explore proteomics data for KPNA7 at MOPED


See KPNA7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001139187.1  
ENSEMBL proteins: 
 ENSP00000330878  
Reactome Protein details: A9QM74

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
ARMC: Armadillo repeat containing
IPO: Importins

5 InterPro protein domains:
 IPR011989 ARM-like
 IPR000225 Armadillo
 IPR024931 Importing_su_alpha
 IPR002652 Importin-a_IBB
 IPR016024 ARM-type_fold

Graphical View of Domain Structure for InterPro Entry A9QM74

ProtoNet protein and cluster: A9QM74

UniProtKB/Swiss-Prot: IMA8_HUMAN, A9QM74
Similarity: Belongs to the importin alpha family
Similarity: Contains 8 ARM repeats
Similarity: Contains 1 IBB domain


KPNA7 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: IMA8_HUMAN, A9QM74
Function: Functions in nuclear protein import (By similarity)

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005488binding ----
GO:0005515protein binding ----
GO:0008565protein transporter activity IEA--
     
KPNA7 for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for KPNA7:
 Synthetic lethal with Ras 

Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
IMA8_HUMAN, A9QM74: Nucleus
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5
cytosol4
endoplasmic reticulum1
golgi apparatus1
mitochondrion1
peroxisome1

Gene Ontology (GO): 4 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus ----
GO:0005654nucleoplasm TAS--
GO:0005737cytoplasm ----
GO:0005829cytosol TAS--

KPNA7 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for KPNA7 About    
See pathways by source

SuperPathContained pathways About
1Interferon Signaling
Interferon Signaling0.59
ISG15 antiviral mechanism0.42
Cytokine Signaling in Immune system0.59
Antiviral mechanism by IFN-stimulated genes0.42

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 Reactome Pathway for KPNA7
    ISG15 antiviral mechanism



KPNA7 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KPNA7
Interactions:

    Search GeneGlobe Interaction Network for KPNA7

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for KPNA7 (A9QM743 ENSP000003308784) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
InteractantInteraction Details
GeneCardExternal ID(s)
HIST1H1CP164033, ENSP000003395664I2D: score=1 STRING: ENSP00000339566
SPOPENSP000002403274STRING: ENSP00000240327
RAC1ENSP000003484614STRING: ENSP00000348461
EXOSC10ENSP000003661354STRING: ENSP00000366135
EXOSC1ENSP000003599394STRING: ENSP00000359939
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Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006606protein import into nucleus IEA--
GO:0019221cytokine-mediated signaling pathway TAS--

KPNA7 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for KPNA7 (IMA8)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for KPNA7 gene: 
NM_001145715.1  

Unigene Cluster for KPNA7:

Karyopherin alpha 7 (importin alpha 8)
Hs.253050  [show with all ESTs]
Unigene Representative Sequence: NM_001145715
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000327442(uc010lft.2)
miRNA
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Primer
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KPNA7
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  QuantiFast Probe-based Assays in human, mouse, rat KPNA7

Additional mRNA sequence: EU126604.1 

2 DOTS entries:

DT.102820269  DT.121125735 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KPNA7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GATCAGCTGA
KPNA7 Expression
About this image


KPNA7 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Ovary (Reproductive System)
         Secondary follicles
KPNA7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KPNA7 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.253050
    Custom PCR Arrays for KPNA7
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KPNA7

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for KPNA7 gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Kpna71 , 5 karyopherin alpha 7 (importin alpha 8)1, 5 72.34(n)1
63.32(a)1
  5 (84.91 cM)5
3816861  NM_001013774.21  NP_001013796.21 
 1449835195 
chicken
(Gallus gallus)
Aves KPNA71 karyopherin alpha 7 (importin alpha 8) 65.29(n)
61.54(a)
  416488  XM_414795.4  XP_414795.3 
lizard
(Anolis carolinensis)
Reptilia KPNA76
karyopherin alpha 7 (importin alpha 8)
51(a)
1 ↔ 1
3(18178330-18179312)
tropical clawed frog
(Xenopus tropicalis)
Amphibia kpna71 karyopherin alpha 7 (importin alpha 8) 62.24(n)
61.39(a)
  100216104  NM_001142085.1  NP_001135557.1 
zebrafish
(Danio rerio)
Actinopterygii kpna71 karyopherin alpha 7 (importin alpha 8) 57.91(n)
52.77(a)
  406343  NM_213070.1  NP_998235.1 
worm
(Caenorhabditis elegans)
Secernentea ima-26
Protein IMA-2 (ima-2) mRNA, complete cds
33(a)
1 → many
I(6315233-6317267) WBGene00002073


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KPNA7 gene
KPNA32  SPAG62  KPNA52  KPNA22  KPNA42  KPNA62  KPNA12  
6 SIMAP similar genes for KPNA7 using alignment to 1 protein entry:     IMA8_HUMAN:
KPNA2    KPNA4    KPNA3    KPNA5    KPNA1    KPNA6

KPNA7 for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for KPNA7
PGOHUM00000235279


(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for KPNA7 (see all 1008)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs609701411,2
C--93407853(+) AAAAA-/AA    
   
/AAAA
GTCAC
1 -- int11NA 2
rs2008052771,2
--98770702(+) AAAAA-/GAAAAA 1 -- int10--------
rs1913453741,2
--98770703(+) AAAAAA/GAAAAG 1 -- int10--------
rs2006662111,2
--98770703(+) AAAAA-/GAAAAG 1 -- int10--------
rs1838830661,2
--98770704(+) AAAAAA/GAAAGA 1 -- int10--------
rs1869446891,2
--98770728(+) TGTCCA/GGATAA 1 -- int10--------
rs1918456061,2
--98770794(+) CAATTA/GCTAAA 1 -- int10--------
rs1852690021,2
--98770873(+) CAATGA/GCTCCA 1 -- int10--------
rs1899991351,2
--98771004(+) AGAGAC/TGGAGT 1 -- int10--------
rs1447622821,2
C--98771021(+) GTGTTA/GGCCAG 1 -- int10--------

HapMap Linkage Disequilibrium report for KPNA7 (98771197 - 98805129 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10 variations for KPNA7:    About this table    
Variant IDTypeSubtypePubMed ID
esv2734881CNV Deletion23290073
esv2734879CNV Deletion23290073
esv2734880CNV Deletion23290073
esv2734876CNV Deletion23290073
esv2660936CNV Deletion23128226
esv2734877CNV Deletion23290073
esv2623610CNV Deletion19546169
esv2734878CNV Deletion23290073
nsv509216CNV Insertion20534489
dgv828n27CNV Loss19166990

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing KPNA7
DNA2.0 Custom Variant and Variant Library Synthesis for KPNA7

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 614107    OMIM disorders: --

2 diseases for KPNA7:    
About MalaCards
ulcerative colitis    influenza


KPNA7 for disorders           About GeneDecksing

Genetic Association Database (GAD): KPNA7

Export disorders for KPNA7 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for KPNA7 gene integrated from 10 sources:
(articles sorted by number of sources associating them with KPNA7)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). (PubMed id 20228798)1, 4 Franke A....Schreiber S. (Nat. Genet. 2010)
  2. Karyopherin alpha7 (KPNA7), a divergent member of the importin alpha family of nuclear import receptors. (PubMed id 20701745)1, 2 Kelley J.B.... Paschal B.M. (BMC Cell Biol. 2010)
  3. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
  4. Isolation and characterization of a novel H1.2 complex that acts as a repressor of p53-mediated transcription. (PubMed id 18258596)1 Kim K....An W. (J. Biol. Chem. 2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 402569 HGNC: 21839 Ensembl:ENSG00000185467 euGenes: HUgn402569 ECgene: KPNA7
H-InvDB: KPNA7

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for KPNA7 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for KPNA7 gene:
Search GeneIP for patents involving KPNA7

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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