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

Gene ID: 3839, updated on 2-Nov-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
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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)

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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