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    BBS8 Bardet-Biedl syndrome 8 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 33217, updated on 9-Dec-2024

    Summary

    Official Symbol
    BBS8provided by FlyBase
    Official Full Name
    Bardet-Biedl syndrome 8provided by FlyBase
    Primary source
    FLYBASE:FBgn0031255
    Locus tag
    Dmel_CG13691
    See related
    AllianceGenome:FB:FBgn0031255
    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
    BBS2; CG13691; Dmel\CG13691
    Summary
    Involved in cilium assembly. Predicted to be located in cilium. Predicted to be part of BBSome. Predicted to be active in ciliary basal body and non-motile cilium. Is expressed in chordotonal neurons; eo neurons; and larval antenno-maxillary sensory complex. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 8; and retinitis pigmentosa 51. Orthologous to human TTC8 (tetratricopeptide repeat domain 8). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
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    Genomic context

    See BBS8 in Genome Data Viewer
    Location:
    21C2-21C2; 2-0.7 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2L NT_033779.5 (422873..425321)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2L NT_033779.4 (422873..425321)

    Chromosome 2L - NT_033779.5Genomic Context describing neighboring genes Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene expanded Neighboring gene long non-coding RNA:CR43717 Neighboring gene croquemort

    Genomic regions, transcripts, and products

    General gene information

    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 IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cilium assembly ISM
    Inferred from Sequence Model
    more info
    PubMed 
    involved_in non-motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in non-motile cilium assembly 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
     
    part_of BBSome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cilium IC
    Inferred by Curator
    more info
    PubMed 
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in non-motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 8
    Names
    BBS8-PA
    Bardet-Biedl syndrome 8 ortholog
    CG13691-PA

    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_033779.5 Reference assembly

      Range
      422873..425321
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_134680.3NP_608524.1  Bardet-Biedl syndrome 8 [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_608524.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q9VPP9
      Related
      FBpp0077718
      Conserved Domains (4) summary
      sd00006
      Location:365389
      TPR; TPR repeat [structural motif]
      pfam04053
      Location:378519
      Coatomer_WDAD; Coatomer WD associated region
      pfam13414
      Location:394457
      TPR_11; TPR repeat
      pfam13432
      Location:331392
      TPR_16; Tetratricopeptide repeat