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    BBS1 Bardet-Biedl syndrome 1 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 38780, updated on 9-Dec-2024

    Summary

    Official Symbol
    BBS1provided by FlyBase
    Official Full Name
    Bardet-Biedl syndrome 1provided by FlyBase
    Primary source
    FLYBASE:FBgn0035741
    Locus tag
    Dmel_CG14825
    See related
    AllianceGenome:FB:FBgn0035741
    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
    CG14825; Dmel\CG14825
    Summary
    Predicted to enable patched binding activity and smoothened binding activity. Involved in cilium assembly. Predicted to be located in cilium. Predicted to be part of BBSome. Predicted to be active in axoneme and centrosome. Is expressed in chordotonal neurons; eo neurons; and larval antenno-maxillary sensory complex. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1. Orthologous to human BBS1 (Bardet-Biedl syndrome 1). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
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    Genomic context

    See BBS1 in Genome Data Viewer
    Location:
    65E4-65E4; 3-19 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3L NT_037436.4 (7125905..7128118)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3L NT_037436.3 (7119005..7121218)

    Chromosome 3L - NT_037436.4Genomic Context describing neighboring genes Neighboring gene Cuticular protein 65Ec Neighboring gene formin 3 Neighboring gene male-specific lethal 3 Neighboring gene Acyl-CoA binding protein 4 Neighboring gene Acyl-CoA binding protein 6 Neighboring gene Acyl-CoA binding protein 3

    Genomic regions, transcripts, and products

    General gene information

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables patched binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables smoothened binding IBA
    Inferred from Biological aspect of Ancestor
    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 cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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
     
    involved_in protein localization to cilium IBA
    Inferred from Biological aspect of Ancestor
    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 axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cilium IC
    Inferred by Curator
    more info
    PubMed 

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 1
    Names
    BBS1-PA
    Bardet-Biedl syndrome 1 ortholog
    CG14825-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_037436.4 Reference assembly

      Range
      7125905..7128118
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_139823.3NP_648080.1  Bardet-Biedl syndrome 1 [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_648080.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      F3YDL9, Q9VS19
      Related
      FBpp0076621
      Conserved Domains (1) summary
      pfam14779
      Location:7269
      BBS1; Ciliary BBSome complex subunit 1