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    KPNA3 karyopherin subunit alpha 3 [ Homo sapiens (human) ]

    Gene ID: 3839, updated on 28-Oct-2024

    Summary

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    Official Symbol
    KPNA3provided by HGNC
    Official Full Name
    karyopherin subunit alpha 3provided by HGNC
    Primary source
    HGNC:HGNC:6396
    See related
    Ensembl:ENSG00000102753 MIM:601892; AllianceGenome:HGNC:6396
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SRP1; SRP4; IPOA4; SPG88; hSRP1; SRP1gamma
    Summary
    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. [provided by RefSeq, Jan 2009]
    Expression
    Ubiquitous expression in testis (RPKM 17.5), brain (RPKM 15.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KPNA3 in Genome Data Viewer
    Location:
    13q14.2
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (49699320..49792682, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (48918230..49011561, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (50273456..50366818, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7753 Neighboring gene uncharacterized LOC105370205 Neighboring gene EBP like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:50264917-50265914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:50298675-50299175 Neighboring gene Sharpr-MPRA regulatory region 10165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:50324522-50325022 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5346 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:50334902-50335622 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:50335623-50336343 Neighboring gene NANOG hESC enhancer GRCh37_chr13:50365333-50365852 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:50365857-50366518 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:50366519-50367180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:50386223-50386724 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:50410354-50410980 Neighboring gene CTAGE family member 10, pseudogene Neighboring gene RNY4 pseudogene 30

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Isolation and mapping of karyopherin alpha 3 (KPNA3), a human gene that is highly homologous to genes encoding Xenopus importin, yeast SRP1 and human RCH1. Takeda S, et al. Cytogenet Cell Genet, 1997. PMID 9154134
    2. The KPNA3 gene may be a susceptibility candidate for schizophrenia. Wei J, et al. Neurosci Res, 2005 Aug. PMID 15882913
    3. KPNA3 variation is associated with schizophrenia, major depression, opiate dependence and alcohol dependence. Morris CP, et al. Dis Markers, 2012. PMID 22960338, Free PMC Article
    4. KPNA3 promotes epithelial-mesenchymal transition by regulating TGF-β and AKT signaling pathways in MDA-MB-231, a triple-negative breast cancer cell line. Choi J, et al. BMB Rep, 2023 Feb. PMID 36593106, Free PMC Article
    5. A combined effect of the KPNA3 and KPNB3 genes on susceptibility to schizophrenia. Zhang H, et al. Neurosci Lett, 2006 Jul 10. PMID 16644122

    See all (206) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SIRT1 promotes the progression and chemoresistance of colorectal cancer through the p53/miR-101/KPNA3 axis.
      Title: SIRT1 promotes the progression and chemoresistance of colorectal cancer through the p53/miR-101/KPNA3 axis.
    2. KPNA3 promotes epithelial-mesenchymal transition by regulating TGF-beta and AKT signaling pathways in MDA-MB-231, a triple-negative breast cancer cell line.
      Title: KPNA3 promotes epithelial-mesenchymal transition by regulating TGF-β and AKT signaling pathways in MDA-MB-231, a triple-negative breast cancer cell line.
    3. Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
      Title: Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
    4. Increased expression of KPNA3 was observed in colorectal cancer (CRC) along with that of DLEU1 and associated with lower survival rate and poorer prognosis. Its expression is promoted by DLEU1 which recruits SMARCA1 in CRC.
      Title: LncRNA DLEU1 contributes to colorectal cancer progression via activation of KPNA3.
    5. Studied the role of KPNA3 (karyopherin subunit alpha 3) in nuclear transport of ataxin-3 in spinocerebellar ataxia type 3.
      Title: Karyopherin α-3 is a key protein in the pathogenesis of spinocerebellar ataxia type 3 controlling the nuclear localization of ataxin-3.
    6. These results suggest that the Japanese encephalitis virus NS5 inhibits the induction of type I interferon by targeting KPNA3 and KPNA4.
      Title: Japanese Encephalitis Virus NS5 Inhibits Type I Interferon (IFN) Production by Blocking the Nuclear Translocation of IFN Regulatory Factor 3 and NF-κB.
    7. Karyopherin alpha 3 and karyopherin alpha 4 proteins mediate the nuclear import of methyl-CpG binding protein 2.
      Title: Karyopherin α 3 and karyopherin α 4 proteins mediate the nuclear import of methyl-CpG binding protein 2.
    8. SNP rs2273816 is significantly associated with schizophrenia, opiate dependence and alcohol dependence at the genotype and allele level
      Title: KPNA3 variation is associated with schizophrenia, major depression, opiate dependence and alcohol dependence.
    9. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: A combined effect of the KPNA3 and KPNB3 genes on susceptibility to schizophrenia.
    10. The present study suggests that the KPNA3 may contribute genetically to schizophrenia in a small effect size.
      Title: The KPNA3 gene may be a susceptibility candidate for schizophrenia.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Spastic paraplegia 88, autosomal dominant
    MedGen: C5774247 OMIM: 620106 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol Karyopherin alpha and beta are reported to interact with HIV-1 integrase (IN) to facilitate nuclear import of IN, however a conflicting report indicates nuclear accumulation of IN does not involve karyopherin alpha, beta 1, or beta 2 mediated pathways PubMed
    gag-pol HIV-1 IN interacts with importin alpha by the BiFC assay and amino acids 161-173 in IN are required for the interaction with importin alpha PubMed
    gag-pol HIV-1 Rev disrupts both IN-TNPO3 and IN-importin alpha complexes PubMed
    gag-pol Some reports indicate a possible role for the interactions between karyopherin alpha and beta with HIV-1 integrase in the nuclear import of HIV-1 preintegration complexes (PIC), while other reports indicate integrase is not involved in PIC nuclear import PubMed
    gag-pol Karyopherin alpha binds to a bipartite nuclear localization signal in HIV-1 integrase (amino acids 186-189 and 211-219) PubMed
    matrix gag Nuclear import of HIV-1 preintegration complexes by karyopherin alpha is governed by phosphorylation of HIV-1 Matrix on tyrosine and serine, however the exact role of phosphorylation of the C-terminal tyrosine of Matrix has been debated PubMed
    gag HIV-1 Matrix increases intracellular ATP content, an effect hypothesized to support the ATP-dependent nuclear import of HIV-1 preintegration complexes by karyopherin alpha PubMed
    gag HIV-1 Vpr increases the affinity of karyopherin alpha to the HIV-1 Matrix nuclear localization signal, thereby mediating the nuclear import of HIV-1 preintegration complexes PubMed
    gag Hsp70 stimulates the binding of HIV-1 matrix to karyopherin alpha PubMed
    gag The role of HIV-1 Matrix during nuclear import of the HIV-1 preintegration complex has been controversial, however recent understanding indicates HIV-1 Matrix and Vpr proteins act in concert to facilitate nuclear import by binding to karyopherin alpha PubMed
    gag HIV-1 Matrix contains two nuclear localization signals (NLS) spanning amino acids 24-33 and 110-114 that are recognized by karyopherin alpha and mediate the nuclear import of HIV-1 preintegration complexes PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nuclear import signal receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nuclear localization sequence binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in NLS-bearing protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein import into nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein-containing complex assembly TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in symbiont entry into host cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in viral penetration into host nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of NLS-dependent protein nuclear import complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytosol NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in host cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of nuclear pore TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    importin subunit alpha-4
    Names
    SRP1-gamma
    importin alpha 4
    importin alpha Q2
    importin alpha-3
    importin subunit alpha-3
    karyopherin alpha 3 (importin alpha 4)
    qip2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_002267.4 → NP_002258.2  importin subunit alpha-4

      See identical proteins and their annotated locations for NP_002258.2

      Status: REVIEWED

      Source sequence(s)
      AI309735, AK291000, AU132188, BC035090, DN991804
      Consensus CDS
      CCDS9421.1
      UniProtKB/Swiss-Prot
      O00191, O00505, O43195, Q5JVM9, Q8IYQ9, Q96AA7
      UniProtKB/TrEMBL
      Q53F09
      Related
      ENSP00000261667.3, ENST00000261667.8
      Conserved Domains (2) summary
      COG5064
      Location:2 → 521
      SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]
      sd00043
      Location:109 → 142
      ARM; armadillo repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      49699320..49792682 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020561.2 → XP_016876050.1  importin subunit alpha-4 isoform X1

      UniProtKB/TrEMBL
      Q53F09
      Conserved Domains (2) summary
      COG5064
      Location:1 → 497
      SRP1; Karyopherin (importin) alpha [Intracellular trafficking and secretion]
      sd00043
      Location:85 → 118
      ARM; armadillo repeat [structural motif]

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      48918230..49011561 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374505.1 → XP_054230480.1  importin subunit alpha-4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00505.2 GenPept UniProtKB/Swiss-Prot:O00505

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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