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    IPO8 importin 8 [ Homo sapiens (human) ]

    Gene ID: 10526, updated on 5-May-2024

    Summary

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    Official Symbol
    IPO8provided by HGNC
    Official Full Name
    importin 8provided by HGNC
    Primary source
    HGNC:HGNC:9853
    See related
    Ensembl:ENSG00000133704 MIM:605600; AllianceGenome:HGNC:9853
    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
    VISS; RANBP8
    Summary
    The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
    Expression
    Ubiquitous expression in thyroid (RPKM 11.8), testis (RPKM 10.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12p11.21
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (30628988..30695869, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (30503650..30570532, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (30781922..30848803, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene transmembrane O-mannosyltransferase targeting cadherins 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:30637986-30638520 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28085 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28118 Neighboring gene uncharacterized LOC105369719 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28131 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:30756793-30757482 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:30757483-30758172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4321 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6158 Neighboring gene caprin family member 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6159 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4322 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:30909210-30909413 Neighboring gene uncharacterized LOC645485

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation. Ziegler A, et al. Am J Hum Genet, 2021 Jun 3. PMID 34010604, Free PMC Article
    2. Functional characterization of importin α8 as a classical nuclear localization signal receptor. Kimoto C, et al. Biochim Biophys Acta, 2015 Oct. PMID 26220098
    3. Identification of importin 8 (IPO8) as the most accurate reference gene for the clinicopathological analysis of lung specimens. Nguewa PA, et al. BMC Mol Biol, 2008 Nov 17. PMID 19014639, Free PMC Article
    4. A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8. Van Gucht I, et al. Am J Hum Genet, 2021 Jun 3. PMID 34010605, Free PMC Article
    5. RUNX2 controls human IPO8 basal transcription in Saos-2 cells. Xiong J, et al. Mol Med Rep, 2016 Aug. PMID 27277970

    See all (89) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A human importin-beta-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
      Title: A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
    2. Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
      Title: Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
    3. the findings of the present study provided novel insights into the control of IPO8 transcription, and may enhance understanding regarding RUNX2 regulatory mechanisms in osteoblast differentiation, bone development, and degenerative bone disease.
      Title: RUNX2 controls human IPO8 basal transcription in Saos-2 cells.
    4. Our studies also suggest that nuclear entry is important for the prooncogenic activity of eIF4E, at least in this context. These findings position nuclear trafficking of eIF4E as a critical step in its regulation and position the importin 8-eIF4E complex as a novel therapeutic target.
      Title: Importin 8 mediates m7G cap-sensitive nuclear import of the eukaryotic translation initiation factor eIF4E.
    5. importin alpha8 functions as a cNLS receptor with distinct cargo specificity, and that heterodimerization by importin alpha8 is a novel regulatory mode of cNLS binding, in addition to the autoinhibitory regulation by the importin beta binding domain.
      Title: Functional characterization of importin α8 as a classical nuclear localization signal receptor.
    6. Knockdown of IPO8 reduced the amount of nuclear p65 following TNF stimulation. IPO8 binding to p65 is NLS independent.
      Title: KPNB1, XPO7 and IPO8 mediate the translocation ofNF-κB/p65 into the nucleus.
    7. IPO8 is the most accurate reference gene for clinical lung specimens.
      Title: Identification of importin 8 (IPO8) as the most accurate reference gene for the clinicopathological analysis of lung specimens.
    8. Study provides evidence that Imp8 is required for cytoplasmic miRNA-guided gene silencing and affects nuclear localization of Ago proteins.
      Title: Importin 8 is a gene silencing factor that targets argonaute proteins to distinct mRNAs.
    9. TGF-beta-induced and basal state spontaneous nuclear import of Smad4 require importin 7 and 8.
      Title: Preferential utilization of Imp7/8 in nuclear import of Smads.
    Submit: New GeneRIF Correction

    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
    VISS syndrome
    MedGen: C5561955 OMIM: 619472 GeneReviews: Not available
    		Compare labs

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ21954, FLJ26580

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    importin-8
    Names
    RAN binding protein 8
    imp8
    ran-binding protein 8

    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_001190995.2 → NP_001177924.1  importin-8 isoform 2

      See identical proteins and their annotated locations for NP_001177924.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several 5' exons, but has an alternate 5' exon, as compared to variant 1. The resulting isoform (2) is shorter and has a different N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK130090, AK302260, BG574795, DB067822, DC400226, EB387074
      Consensus CDS
      CCDS53773.1
      UniProtKB/Swiss-Prot
      O15397
      Related
      ENSP00000444520.1, ENST00000544829.5
      Conserved Domains (2) summary
      COG5656
      Location:9 → 791
      SXM1; Importin, protein involved in nuclear import [Posttranslational modification, protein turnover, chaperones]
      pfam03378
      Location:536 → 664
      CAS_CSE1; CAS/CSE protein, C-terminus

    2. NM_006390.4 → NP_006381.2  importin-8 isoform 1

      See identical proteins and their annotated locations for NP_006381.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK130090, AK302260, BG574795, DB067822, DB072643, DB088518, EB387074, U77494
      Consensus CDS
      CCDS8719.1
      UniProtKB/Swiss-Prot
      B7Z7M3, O15397
      Related
      ENSP00000256079.4, ENST00000256079.9
      Conserved Domains (3) summary
      COG5656
      Location:15 → 996
      SXM1; Importin, protein involved in nuclear import [Posttranslational modification, protein turnover, chaperones]
      pfam03378
      Location:741 → 869
      CAS_CSE1; CAS/CSE protein, C-terminus
      pfam03810
      Location:22 → 101
      IBN_N; Importin-beta N-terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      30628988..30695869 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018691.3 → XP_016874180.1  importin-8 isoform X1

    2. XM_017018692.2 → XP_016874181.1  importin-8 isoform X2

    3. XM_017018693.3 → XP_016874182.1  importin-8 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      30503650..30570532 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370778.1 → XP_054226753.1  importin-8 isoform X4

    2. XM_054370777.1 → XP_054226752.1  importin-8 isoform X1

    3. XM_054370779.1 → XP_054226754.1  importin-8 isoform X2

    4. XM_054370780.1 → XP_054226755.1  importin-8 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15397.2 GenPept UniProtKB/Swiss-Prot:O15397

    Gene LinkOut

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