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    bbs-9 Protein pthb1 homolog [ Caenorhabditis elegans ]

    Gene ID: 183572, updated on 9-Dec-2024

    Summary

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    Official Symbol
    bbs-9
    Official Full Name
    Protein pthb1 homolog
    Primary source
    WormBase:WBGene00016744
    Locus tag
    CELE_C48B6.8
    See related
    AllianceGenome:WB:WBGene00016744
    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 be involved in cilium assembly. Located in ciliary basal body. Used to study Bardet-Biedl syndrome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 9; craniosynostosis; and primary ovarian insufficiency. Orthologous to human BBS9 (Bardet-Biedl syndrome 9). [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See bbs-9 in Genome Data Viewer
    Location:
    chromosome: I
    Exon count:
    17
    Sequence:
    Chromosome: I; NC_003279.8 (6917700..6922973, complement)

    Chromosome I - NC_003279.8Genomic Context describing neighboring genes Neighboring gene Essential protein Yae1 N-terminal domain-containing protein Neighboring gene U3 small nucleolar ribonucleoprotein imp3 Neighboring gene Small integral membrane protein 15 Neighboring gene Transmembrane protein

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_003279.8

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Hyperactive neuroendocrine secretion causes size, feeding, and metabolic defects of C. elegans Bardet-Biedl syndrome mutants. Lee BH, et al. PLoS Biol, 2011 Dec. PMID 22180729, Free PMC Article
    2. A cilia-independent function of BBSome mediated by DLK-MAPK signaling in C. elegans photosensation. Zhang X, et al. Dev Cell, 2022 Jun 20. PMID 35649417, Free PMC Article
    3. The BBSome controls IFT assembly and turnaround in cilia. Wei Q, et al. Nat Cell Biol, 2012 Sep. PMID 22922713, Free PMC Article
    4. ROS and cGMP signaling modulate persistent escape from hypoxia in Caenorhabditis elegans. Zhao L, et al. PLoS Biol, 2022 Jun. PMID 35727855, Free PMC Article
    5. The sensory cilia of Caenorhabditis elegans. Inglis PN, et al. WormBook, 2007 Mar 8. PMID 18050505, Free PMC Article

    See all (10) 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

    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 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 ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    Protein pthb1 homolog
    NP_491973.4
    • 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_003279.8 Reference assembly

      Range
      6917700..6922973 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_059572.6 → NP_491973.4  Protein pthb1 homolog [Caenorhabditis elegans]

      See identical proteins and their annotated locations for NP_491973.4

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      O01514
      Conserved Domains (2) summary
      pfam14727
      Location:2 → 381
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:423 → 680
      PHTB1_C; PTHB1 C-terminus
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O01514.5

    Gene LinkOut

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