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

Gene ID: 36167, updated on 2-Nov-2024

Summary

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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, Nov 2024]
Orthologs
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Ligand-Independent Mechanisms of Notch Activity. Palmer WH, et al. Trends Cell Biol, 2015 Nov. PMID 26437585, Free PMC Article
  2. Evolutionary toxicogenomics: diversification of the Cyp12d1 and Cyp12d3 genes in Drosophila species. McDonnell CM, et al. J Mol Evol, 2012 Jun. PMID 22811321
  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. Components of Intraflagellar Transport Complex A Function Independently of the Cilium to Regulate Canonical Wnt Signaling in Drosophila. Balmer S, et al. Dev Cell, 2015 Sep 28. PMID 26364750, Free PMC Article
  5. Centrioles in flies: the exception to the rule? Gogendeau D, et al. Semin Cell Dev Biol, 2010 Apr. PMID 19596460

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

Pathways from PubChem

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General gene information

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Markers

Homology

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

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

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

mRNA and Protein(s)

  1. NM_136792.2 → NP_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:283 → 311
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:283 → 348
    TPR_11; TPR repeat
    pfam13424
    Location:97 → 175
    TPR_12; Tetratricopeptide repeat
    pfam14559
    Location:190 → 254
    TPR_19; Tetratricopeptide repeat

  2. NM_001299376.1 → NP_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:249 → 277
    TPR; TPR repeat [structural motif]
    pfam13414
    Location:256 → 314
    TPR_11; TPR repeat
    pfam13424
    Location:97 → 175
    TPR_12; Tetratricopeptide repeat
    pfam14559
    Location:190 → 254
    TPR_19; Tetratricopeptide repeat
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A0B4LF63 A0A0B4LF63
A1Z8E9.1 A1Z8E9

Gene LinkOut

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