U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    BBS4 Bardet-Biedl syndrome 4 [ Drosophila melanogaster (fruit fly) ]

    Gene ID: 36167, updated on 9-Dec-2024

    Summary

    Official Symbol
    BBS4provided by FlyBase
    Official Full Name
    Bardet-Biedl syndrome 4provided by FlyBase
    Primary source
    FLYBASE:FBgn0033578
    Locus tag
    Dmel_CG13232
    See related
    AllianceGenome:FB:FBgn0033578
    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
    CG13232; Dmel\CG13232
    Summary
    Predicted to enable dynactin binding activity and protein-macromolecule adaptor activity. Involved in cilium assembly. Predicted to be located in cilium and pericentriolar material. 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 4; morbid obesity; and obesity. Orthologous to human BBS4 (Bardet-Biedl syndrome 4). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BBS4 in Genome Data Viewer
    Location:
    47D5-47D5; 2-63 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    Release 6.54 current Release 6 plus ISO1 MT (GCF_000001215.4) 2R NT_033778.4 (11135923..11139315)
    Release 5.57 previous assembly Release 5 (GCF_000001215.2) 2R NT_033778.3 (7023428..7026820)

    Chromosome 2R - NT_033778.4Genomic Context describing neighboring genes Neighboring gene Cytochrome P450 12d1 distal Neighboring gene pseudo Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein Neighboring gene uncharacterized protein

    Genomic regions, transcripts, and products

    Pathways from PubChem

    General gene information

    Markers

    Gene Ontology Provided by FlyBase

    Function Evidence Code Pubs
    enables dynactin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein-macromolecule adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in centrosome cycle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 protein localization to cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    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
     
    located_in pericentriolar material ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    Bardet-Biedl syndrome 4
    Names
    BBS4-PA
    BBS4-PB
    Bardet-Biedl syndrome 4 ortholog
    CG13232-PA
    CG13232-PB

    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_033778.4 Reference assembly

      Range
      11135923..11139315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_136792.2NP_610636.1  Bardet-Biedl syndrome 4, isoform A [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_610636.1

      Status: REVIEWED

      UniProtKB/Swiss-Prot
      A1Z8E9
      Related
      FBpp0087297
      Conserved Domains (4) summary
      sd00006
      Location:283311
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:283348
      TPR_11; TPR repeat
      pfam13424
      Location:97175
      TPR_12; Tetratricopeptide repeat
      pfam14559
      Location:190254
      TPR_19; Tetratricopeptide repeat
    2. NM_001299376.1NP_001286305.1  Bardet-Biedl syndrome 4, isoform B [Drosophila melanogaster]

      See identical proteins and their annotated locations for NP_001286305.1

      Status: REVIEWED

      UniProtKB/TrEMBL
      A0A0B4LF63
      Conserved Domains (4) summary
      sd00006
      Location:249277
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:256314
      TPR_11; TPR repeat
      pfam13424
      Location:97175
      TPR_12; Tetratricopeptide repeat
      pfam14559
      Location:190254
      TPR_19; Tetratricopeptide repeat