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    IPO11 importin 11 [ Homo sapiens (human) ]

    Gene ID: 51194, updated on 2-Nov-2024

    Summary

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    Official Symbol
    IPO11provided by HGNC
    Official Full Name
    importin 11provided by HGNC
    Primary source
    HGNC:HGNC:20628
    See related
    Ensembl:ENSG00000086200 MIM:610889; AllianceGenome:HGNC:20628
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RanBP11
    Summary
    Importins, including IPO11, are a members of the karyopherin/importin-beta family of transport receptors (see KPNB1; 602738) that mediate nucleocytoplasmic transport of protein and RNA cargoes (Plafker and Macara, 2000 [PubMed 11032817]).[supplied by OMIM, Sep 2008]
    Expression
    Ubiquitous expression in testis (RPKM 13.7), thyroid (RPKM 6.7) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See IPO11 in Genome Data Viewer
    Location:
    5q12.1
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (62412763..62628582)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (63232336..63448295)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (61708590..61924409)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene CREB regulated transcription coactivator 2 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22596 Neighboring gene kinesin family member 2A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16052 Neighboring gene DIM1 rRNA methyltransferase and ribosome maturation factor Neighboring gene RNA, U6 small nuclear 661, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr5:61791875-61792070 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:61864515-61865147 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:61865148-61865779 Neighboring gene IPO11-LRRC70 readthrough Neighboring gene CDC28 protein kinase regulatory subunit 1B pseudogene 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:61905853-61905971 Neighboring gene ribosomal protein L35a pseudogene 14 Neighboring gene leucine rich repeat containing 70 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:62013981-62014721 Neighboring gene iron-sulfur cluster assembly 1 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:62265821-62266321 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:62277957-62278458 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:62278459-62278958 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:62421058-62421608 Neighboring gene MPRA-validated peak5264 silencer Neighboring gene dedicator of cytokinesis 9 pseudogene

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circular RNA circIPO11 drives self-renewal of liver cancer initiating cells via Hedgehog signaling.
      Title: Circular RNA circIPO11 drives self-renewal of liver cancer initiating cells via Hedgehog signaling.
    2. The nuclear transporter importin-11 regulates the Wnt/beta-catenin pathway and acts as a tumor promoter in glioma.
      Title: The nuclear transporter importin-11 regulates the Wnt/β-catenin pathway and acts as a tumor promoter in glioma.
    3. IPO11 mediates betacatenin nuclear import in a subset of colorectal cancers.
      Title: IPO11 mediates βcatenin nuclear import in a subset of colorectal cancers.
    4. High IPO11 expression is associated with migration, invasion, and progression of bladder cancer.
      Title: Importin-11 overexpression promotes the migration, invasion, and progression of bladder cancer associated with the deregulation of CDKN1A and THBS1.
    5. IPO11 copy number amplification and importin-11 overexpression are promising biomarkers for predicting the progression and poor prognosis of patients with NMIBC.
      Title: Whole-exome sequencing of muscle-invasive bladder cancer identifies recurrent copy number variation in IPO11 and prognostic significance of importin-11 overexpression on poor survival.
    6. IPO11 provides protection in another way, the researchers found. The transport receptor also shuttles UBE2E1, an enzyme necessary for PTEN ubiquitination, into the nucleus. Thanks to IPO11, normal cells keep all of their UBE2E1 in the nucleus, allowing PTEN to continue functioning in the cytoplasm. In cells lacking IPO11, UBE2E1 remains in the cytoplasm and promotes the destruction of PTEN.
      Title: Protecting PTEN in the Nucleus.
    7. IPO11-HTR1A is a significant risk gene region for attention deficit hyperactivity disorder in Caucasians.
      Title: Significant association between rare IPO11-HTR1A variants and attention deficit hyperactivity disorder in Caucasians.
    8. Data indicate that ubiquitin-conjugating enzyme UBE2E3 and importin 11 (Imp-11)promote the nuclear accumulation and activity of transcription factor NF-E2 (Nrf2) by restricting the transcription factor from partitioning to the mitochondria
      Title: The ubiquitin-conjugating enzyme UBE2E3 and its import receptor importin-11 regulate the localization and activity of the antioxidant transcription factor NRF2.
    9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide significant association signals in IPO11-HTR1A region specific for alcohol and nicotine codependence.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough IPO11-LRRC70

    Readthrough gene: IPO11-LRRC70, Included gene: LRRC70

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nuclear import signal receptor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 ribosomal protein import into nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    importin-11
    Names
    Ran binding protein 11
    imp11
    ran-binding protein 11

    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_001134779.2 → NP_001128251.1  importin-11 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF111109, AK302781, BC033776, BM966917
      Consensus CDS
      CCDS47217.1
      UniProtKB/TrEMBL
      F8WDV0
      Related
      ENSP00000386992.3, ENST00000409296.7
      Conserved Domains (3) summary
      COG5657
      Location:50 → 1012
      CSE1; CAS/CSE protein involved in chromosome segregation [Cell division and chromosome partitioning]
      pfam03810
      Location:68 → 140
      IBN_N; Importin-beta N-terminal domain
      sd00044
      Location:466 → 499
      HEAT; HEAT repeat [structural motif]

    2. NM_016338.5 → NP_057422.3  importin-11 isoform 2

      See identical proteins and their annotated locations for NP_057422.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and uses a downstream translation initiation codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1.
      Source sequence(s)
      AF111109, BC033776, BM966917, DA473424
      Consensus CDS
      CCDS34167.1
      UniProtKB/Swiss-Prot
      A6NGJ5, B4DZ73, D3DW98, Q8N5R2, Q9NSJ6, Q9NVB1, Q9UI26
      UniProtKB/TrEMBL
      F8WDV0
      Related
      ENSP00000316651.6, ENST00000325324.11
      Conserved Domains (2) summary
      sd00044
      Location:426 → 459
      HEAT; HEAT repeat [structural motif]
      cl27876
      Location:10 → 972
      Cse1; Cse1

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      62412763..62628582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      63232336..63448295
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UI26.1 GenPept UniProtKB/Swiss-Prot:Q9UI26

    Gene LinkOut

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

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