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    Nup188 Nucleoporin 188kDa [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 36397, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Nup188provided by FlyBase
    Official Full Name
    Nucleoporin 188kDaprovided by FlyBase
    Primary source
    FLYBASE:FBgn0033766
    Locus tag
    Dmel_CG8771
    See related
    AllianceGenome:FB:FBgn0033766
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Drosophila melanogaster
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
    Also known as
    CG8771; Dmel\CG8771; nup188
    Summary
    Predicted to be a structural constituent of nuclear pore. Predicted to be involved in RNA export from nucleus; nuclear pore organization; and protein import into nucleus. Predicted to be part of nuclear pore inner ring. Is expressed in adult head. Used to study Sandestig-Stefanova syndrome. Human ortholog(s) of this gene implicated in Sandestig-Stefanova syndrome and respiratory failure. Orthologous to human NUP188 (nucleoporin 188). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    all
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    Genomic context

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    See Nup188 in Genome Data Viewer
    Location:
    49B12-49B12; 2-67 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2R NT_033778.4 (12679967..12686179, complement)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2R NT_033778.3 (8567472..8573684, complement)

    Chromosome 2R - NT_033778.4Genomic Context describing neighboring genes Neighboring gene no extended memory Neighboring gene Glutaminase Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene Odorant-binding protein 49a

    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 Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. Muir AM, et al. Am J Hum Genet, 2020 May 7. PMID 32275884, Free PMC Article
    2. A single-molecule localization microscopy method for tissues reveals nonrandom nuclear pore distribution in Drosophila. Cheng J, et al. J Cell Sci, 2021 Dec 15. PMID 34806753, Free PMC Article
    3. A screen for genes expressed in the olfactory organs of Drosophila melanogaster identifies genes involved in olfactory behaviour. Tunstall NE, et al. PLoS One, 2012. PMID 22530061, Free PMC Article
    4. dCas9-targeted locus-specific protein isolation method identifies histone gene regulators. Tsui C, et al. Proc Natl Acad Sci U S A, 2018 Mar 20. PMID 29507191, Free PMC Article
    5. Nuclear Pores Assemble from Nucleoporin Condensates During Oogenesis. Hampoelz B, et al. Cell, 2019 Oct 17. PMID 31626769, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables structural constituent of nuclear pore IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of nuclear pore IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables structural constituent of nuclear pore ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in RNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nuclear pore organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein import into nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of nuclear pore inner ring IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of nuclear pore inner ring ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    nucleoporin 188kDa
    Names
    CG8771-PB
    CG8771-PC
    Nup188-PB
    Nup188-PC

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NT_033778.4 Reference assembly

      Range
      12679967..12686179 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_136966.4 → NP_610810.2  nucleoporin 188kDa, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_610810.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      A1Z945
      Conserved Domains (1) summary
      pfam10487
      Location:31 → 943
      Nup188; Nucleoporin subcomplex protein binding to Pom34

    2. NM_001259354.2 → NP_001246283.1  nucleoporin 188kDa, isoform C [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001246283.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      A0A0B4K859, A1Z945
      Conserved Domains (1) summary
      cl29134
      Location:31 → 943
      Nup188; Nucleoporin subcomplex protein binding to Pom34
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A0B4K859.1 A0A0B4K859

    Gene LinkOut

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