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    XPO5 exportin 5 [ Homo sapiens (human) ]

    Gene ID: 57510, updated on 5-May-2024

    Summary

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    Official Symbol
    XPO5provided by HGNC
    Official Full Name
    exportin 5provided by HGNC
    Primary source
    HGNC:HGNC:17675
    See related
    Ensembl:ENSG00000124571 MIM:607845; AllianceGenome:HGNC:17675
    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
    exp5
    Summary
    This gene encodes a member of the karyopherin family that is required for the transport of small RNAs and double-stranded RNA-binding proteins from the nucleus to the cytoplasm. The encoded protein translocates cargo through the nuclear pore complex in a RanGTP-dependent process. [provided by RefSeq, Aug 2011]
    Expression
    Broad expression in testis (RPKM 18.4), thyroid (RPKM 10.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6p21.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (43522334..43576038, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (43351073..43404771, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (43490072..43543775, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24602 Neighboring gene MPRA-validated peak5815 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17235 Neighboring gene U7 small nuclear RNA Neighboring gene small Cajal body-specific RNA 15 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:43514706-43515905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43545520-43546020 Neighboring gene leucine rich repeat containing 73 Neighboring gene RNA polymerase I and III subunit C Neighboring gene ribosomal protein S2 pseudogene 29 Neighboring gene Yip1 domain family member 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:43579698-43579923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17238 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17237 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43604555-43605342 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:43605343-43606129 Neighboring gene MAD2L1 binding protein Neighboring gene DNA polymerase eta Neighboring gene GTP binding protein 2

    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. Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis. Hussain HMJ, et al. Hum Genomics, 2022 Nov 12. PMID 36371311, Free PMC Article
    2. Selectivity of Exportin 5 binding to human precursor microRNAs. Zhang X, et al. RNA Biol, 2021 Nov 12. PMID 34592896, Free PMC Article
    3. Effects of Knockdown of XPO5 by siRNA on the Biological Behavior of Head and Neck Cancer Cells. Özdaş S, et al. Laryngoscope, 2022 Mar. PMID 34328643
    4. Exportin-5 SUMOylation promotes hepatocellular carcinoma progression. Lin D, et al. Exp Cell Res, 2020 Oct 15. PMID 32763246
    5. Association between XPO5 rs11077 polymorphism and cancer susceptibility: a meta-analysis of 7284 cases and 8511 controls. Moazeni-Roodi A, et al. Exp Oncol, 2019 Dec. PMID 31868332

    See all (162) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lipid kinase PIP5K1A regulates let-7 microRNA biogenesis through interacting with nuclear export protein XPO5.
      Title: Lipid kinase PIP5K1A regulates let-7 microRNA biogenesis through interacting with nuclear export protein XPO5.
    2. Investigation of the association of the RAN (rs14035) and XPO5 (rs11077) polymorphisms with venous thromboembolism.
      Title: Investigation of the association of the RAN (rs14035) and XPO5 (rs11077) polymorphisms with venous thromboembolism.
    3. Amyotrophic Lateral Sclerosis-Associated Mutants of SOD1 Modulate miRNA Biogenesis through Aberrant Interactions with Exportin 5.
      Title: Amyotrophic Lateral Sclerosis-Associated Mutants of SOD1 Modulate miRNA Biogenesis through Aberrant Interactions with Exportin 5.
    4. Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis.
      Title: Mutation in XPO5 causes adult-onset autosomal dominant familial focal segmental glomerulosclerosis.
    5. The impact of Dicer, Drosha, and Exportin-5 levels in polycystic ovary syndrome (PCOS) diagnosis and phenotyping.
      Title: The impact of Dicer, Drosha, and Exportin-5 levels in polycystic ovary syndrome (PCOS) diagnosis and phenotyping.
    6. Effects of Knockdown of XPO5 by siRNA on the Biological Behavior of Head and Neck Cancer Cells.
      Title: Effects of Knockdown of XPO5 by siRNA on the Biological Behavior of Head and Neck Cancer Cells.
    7. Selectivity of Exportin 5 binding to human precursor microRNAs.
      Title: Selectivity of Exportin 5 binding to human precursor microRNAs.
    8. Analysis of microRNA processing machinery gene (DROSHA, DICER1, RAN, and XPO5) variants association with end-stage renal disease.
      Title: Analysis of microRNA processing machinery gene (DROSHA, DICER1, RAN, and XPO5) variants association with end-stage renal disease.
    9. Association between Genetic Polymorphisms in microRNA Machinery Genes and Risk of Papillary Thyroid Carcinoma.
      Title: Association between Genetic Polymorphisms in microRNA Machinery Genes and Risk of Papillary Thyroid Carcinoma.
    10. Exportin-5 SUMOylation promotes hepatocellular carcinoma progression.
      Title: Exportin-5 SUMOylation promotes hepatocellular carcinoma progression.
    Submit: New GeneRIF Correction See all GeneRIFs (49)

    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

    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
    Vpu vpu HIV-1 Vpu is identified to have a physical interaction with exportin 5 (XPO5) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • FLJ14239, FLJ32057, FLJ45606, KIAA1291

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RISC complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA binding TAS
    Traceable Author Statement
    more info
    		  
    enables mRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nuclear export signal receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nuclear export signal receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    contributes_to pre-miRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables pre-miRNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables pre-miRNA binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in miRNA metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in pre-miRNA export from nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in pre-miRNA export from nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in pre-miRNA export from nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein export from nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of RISC complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of RNA nuclear export complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of RNA nuclear export complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    exportin-5
    Names
    ran-binding protein 21

    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.

    Genomic

    1. NG_051658.1 RefSeqGene

      Range
      5038..58742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020750.3 → NP_065801.1  exportin-5

      See identical proteins and their annotated locations for NP_065801.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AB033117, AF298880, BF108994, DB068849
      Consensus CDS
      CCDS47430.1
      UniProtKB/Swiss-Prot
      Q5JTE6, Q96G48, Q96HN3, Q9BWM6, Q9BZV5, Q9H9M4, Q9HAV4, Q9NT89, Q9NW39, Q9ULC9
      UniProtKB/TrEMBL
      A8K5Y7
      Related
      ENSP00000265351.7, ENST00000265351.12

    RNA

    1. NR_144392.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL355802, KF458158, KF510953

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      43522334..43576038 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      43351073..43404771 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HAV4.1 GenPept UniProtKB/Swiss-Prot:Q9HAV4

    Gene LinkOut

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

    Chemical Information
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