U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    BBS5 Bardet-Biedl syndrome 5 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 40600, updated on 9-Dec-2024

    Summary

    Official Symbol
    BBS5provided by FlyBase
    Official Full Name
    Bardet-Biedl syndrome 5provided by FlyBase
    Primary source
    FLYBASE:FBgn0037280
    Locus tag
    Dmel_CG1126
    See related
    AllianceGenome:FB:FBgn0037280
    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
    CG1126; Dmel\CG1126
    Summary
    Predicted to enable phosphatidylinositol-3-phosphate binding activity. Involved in cilium assembly. Predicted to be part of BBSome. Predicted to be active in ciliary basal body. 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 5. Orthologous to human BBS5 (Bardet-Biedl syndrome 5). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BBS5 in Genome Data Viewer
    Location:
    82D6-82D6; 3-47.1 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 3R NT_033777.3 (4816318..4817776)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 3R NT_033777.2 (642040..643498)

    Chromosome 3R - NT_033777.3Genomic Context describing neighboring genes Neighboring gene Coiled-coil domain containing protein 39 Neighboring gene circadian trip Neighboring gene Hus1-like Neighboring gene GDP-mannose pyrophosphorylase B Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables phosphatidylinositol-3-phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables phosphatidylinositol-3-phosphate binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 intracellular transport 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 ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 5
    Names
    BBS5-PA
    CG1126-PA

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NT_033777.3 Reference assembly

      Range
      4816318..4817776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_141242.4NP_649499.1  Bardet-Biedl syndrome 5 [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_649499.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      Q4V3X5, Q9I7P3
      Related
      FBpp0078512
      Conserved Domains (3) summary
      smart00683
      Location:176230
      DM16; Repeats in sea squirt COS41.4, worm R01H10.6, fly CG1126 etc
      pfam07289
      Location:19372
      DUF1448; Protein of unknown function (DUF1448)
      cl17171
      Location:196268
      PH-like; Pleckstrin homology-like domain