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    BBS9 Bardet-Biedl syndrome 9 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 37439, updated on 9-Dec-2024

    Summary

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    Official Symbol
    BBS9provided by FlyBase
    Official Full Name
    Bardet-Biedl syndrome 9provided by FlyBase
    Primary source
    FLYBASE:FBgn0034622
    Locus tag
    Dmel_CG15666
    See related
    AllianceGenome:FB:FBgn0034622
    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
    BcDNA:RH67628; CG15666; Dmel\CG15666
    Summary
    Predicted to be involved in cilium assembly. Predicted to be part of BBSome. Predicted to be active in membrane. 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]
    Orthologs
    all
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    Genomic context

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    See BBS9 in Genome Data Viewer
    Location:
    57D12-57D12; 2-94 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 (21341972..21345608)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2R NT_033778.3 (17229477..17233113)

    Chromosome 2R - NT_033778.4Genomic Context describing neighboring genes Neighboring gene domino Neighboring gene ncRNA Neighboring gene small non-coding RNA 184 Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein

    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. Primary cilia contribute to the aggressiveness of atypical teratoid/rhabdoid tumors. Blümel L, et al. Cell Death Dis, 2022 Sep 20. PMID 36127323, Free PMC Article
    2. Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila. Chow CY, et al. Hum Mol Genet, 2016 Feb 15. PMID 26662796, Free PMC Article
    3. Evolution of modular intraflagellar transport from a coatomer-like progenitor. van Dam TJ, et al. Proc Natl Acad Sci U S A, 2013 Apr 23. PMID 23569277, Free PMC Article
    4. Centrioles in flies: the exception to the rule? Gogendeau D, et al. Semin Cell Dev Biol, 2010 Apr. PMID 19596460
    5. Identification of novel regulatory factor X (RFX) target genes by comparative genomics in Drosophila species. Laurençon A, et al. Genome Biol, 2007. PMID 17875208, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    part_of BBSome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    Bardet-Biedl syndrome 9
    Names
    BBS9-PD
    CG15666-PD

    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
      21341972..21345608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001144255.3 → NP_001137727.2  Bardet-Biedl syndrome 9 [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001137727.2

      Status: REVIEWED

      UniProtKB/TrEMBL
      B7YZM8
      Conserved Domains (2) summary
      pfam14727
      Location:2 → 413
      PHTB1_N; PTHB1 N-terminus
      pfam14728
      Location:444 → 835
      PHTB1_C; PTHB1 C-terminus
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B7YZM8 B7YZM8
    Q8MYT3 Q8MYT3

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