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    • Showing Current items.

    bbs-5 BBSome complex member bbs-5 [ Caenorhabditis elegans ]

    Gene ID: 187516, updated on 9-Dec-2024

    Summary

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    Official Symbol
    bbs-5
    Official Full Name
    BBSome complex member bbs-5
    Primary source
    WormBase:WBGene00010974
    Locus tag
    CELE_R01H10.6
    See related
    AllianceGenome:WB:WBGene00010974
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Caenorhabditis elegans (strain: Bristol N2)
    Lineage
    Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
    Summary
    Predicted to enable phosphatidylinositol-3-phosphate binding activity. Predicted to be involved in cilium assembly and intracellular transport. Located in ciliary base; cytoskeleton; and non-motile cilium. Is expressed in head; nervous system; and tail. Used to study Bardet-Biedl syndrome and ciliopathy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 5. Orthologous to human BBS5 (Bardet-Biedl syndrome 5). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See bbs-5 in Genome Data Viewer
    Location:
    chromosome: III
    Exon count:
    5
    Sequence:
    Chromosome: III; NC_003281.10 (10258831..10261782, complement)

    Chromosome III - NC_003281.10Genomic Context describing neighboring genes Neighboring gene ncRNA Neighboring gene Coronin-like protein cor-1 Neighboring gene Uncharacterized protein Neighboring gene RFS-1 Interacting Partner Neighboring gene PH domain-containing protein Neighboring gene Connector enhancer of kinase suppressor of ras Neighboring gene GDP-fucose protein O-fucosyltransferase 2

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003281.10

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. BBS4 and BBS5 show functional redundancy in the BBSome to regulate the degradative sorting of ciliary sensory receptors. Xu Q, et al. Sci Rep, 2015 Jul 7. PMID 26150102, Free PMC Article
    2. Evolutionarily conserved genetic interactions between nphp-4 and bbs-5 mutations exacerbate ciliopathy phenotypes. Bentley-Ford MR, et al. Genetics, 2022 Jan 4. PMID 34850872, Free PMC Article
    3. Ciliary Rab28 and the BBSome negatively regulate extracellular vesicle shedding. Akella JS, et al. Elife, 2020 Feb 26. PMID 32101165, Free PMC Article
    4. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Li JB, et al. Cell, 2004 May 14. PMID 15137946
    5. Regulatory Factor X (RFX)-mediated transcriptional rewiring of ciliary genes in animals. Piasecki BP, et al. Proc Natl Acad Sci U S A, 2010 Jul 20. PMID 20615967, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Gene Ontology Provided by WormBase

    Function Evidence Code Pubs
    enables phosphatidylinositol-3-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell projection organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of BBSome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BBSome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriolar satellite IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary base IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ciliary membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in non-motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    BBSome complex member bbs-5
    NP_499272.1
    • Confirmed by transcript evidence

    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. NC_003281.10 Reference assembly

      Range
      10258831..10261782 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_066871.2 → NP_499272.1  BBSome complex member bbs-5 [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_499272.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      Q21626
      Conserved Domains (2) summary
      smart00683
      Location:30 → 84
      DM16; Repeats in sea squirt COS41.4, worm R01H10.6, fly CG1126 etc
      pfam07289
      Location:9 → 357
      DUF1448; Protein of unknown function (DUF1448)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q21626.1

    Gene LinkOut

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