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FLASH GENE
Symbol BBS4 contributors: mct/npt - updated : 31-05-2014
HGNC name Bardet-Biedl syndrome 4
HGNC id 969
Corresponding disease
BBS4 Bardet-Biedl syndrome 4
Location 15q24.1      Physical location : 72.978.525 - 73.030.816
Synonym symbol(s) hs.26471
DNA
TYPE functioning gene
STRUCTURE 52.29 kb     16 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 - 2515 58 519 - 2004 15497446
15 - 2468 - 347 - 2004 15497446
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Nervousbrainforebraincerebral cortexfrontal cortex 
 braindiencephalonhypothalamus  
Reproductivefemale systemuterus   
Respiratoryrespiratory tract   highly
Urinarykidney   highly
Visualeyeuveachoroid  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connectivebone   
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuroectodermal cell
Respiratoryepithelial cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text retina, adipose tissue, highest in kidney
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ten tetratricopeptide repeats domain (TPR)
  • short N-and C-terminal regions
  • HOMOLOGY
    interspecies ortholog to murine Bbs4
    intraspecies homolog to O-linked acetylglucosamine transferase (OGT)
    Homologene
    FAMILY
  • BBS4 family
  • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text
  • centriolar satellites of centrosome and basal bodies of primary cilia
  • located in the neighborhood of primary cilia, including the basal body, the ciliary axoneme, and the pericentriolar region
  • during ciliogenesis, BBS4 relocalizes from centriolar satellites to the primary cilium
  • CCDC13 localises to the basal body, is required for primary cilia formation, and promotes the localisation of the ciliopathy protein BBS4 to both centriolar satellites and cilia
  • basic FUNCTION
  • required for microtubule anchoring and cell cycle progression
  • required for the localization of G protein-coupled receptors to primary cilia on central neurons
  • playing a role in flagella formation and in intracellular microtubule-associated transport but not in global cilia assembly and formation
  • involved in the olfaction
  • implicated in centrosome function
  • involved in planar cell polarity
  • playing a role in both the structure and function of motile cilia
  • mediate LEPR trafficking and impaired LEPR signaling underlies energy imbalance in the disease (Seo 2009)
  • play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels
  • BBS4 recruitment to cilia is defective in autophagy-deficient cells
  • plays a direct and essential role in proliferation and adipogenesis
  • BBS4 and OFD1 interacted with proteasomal subunits, and loss of either BBS4 or OFD1 led to depletion of multiple subunits from the centrosomal proteasome
  • is necessary for ciliary localization of NTRK2 receptor and activation by BDNF
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component part of complex composed of seven highly conserved BBS proteins, the BBSome, localized to nonmembranous centriolar satellites in the cytoplasm but also to the membrane of the cilium (Nachury 2007)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PCM1 (acting as an adaptor betwween PCM1 and the dynein-dynactin motor complex, and acts together at centriolar satellites for protein recruitment and microtubule organization) (Kim 2008)
  • interacting with MAGEB1, NDN and FEZ1 for cytoskeletal rearrangement during neurite outgrowth
  • interacting with VANGL2
  • interacting with EPAS1, ALDOB, EXOC7, FLOT1, KRT18, PAX2 (Oeffner 2008)
  • PIBF1 and CEP72 in centriolar satellites regulate the ciliary localization of BBS4, which in turn affects assembly and recruitment of the BBSome
  • PIBF1 is required for BBS4 loading on centriolar satellites and its localization in primary cilia
  • CEP131 interacting with the BBSome and regulating BBSome ciliary trafficking activity, through BBS4
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS4
    related resource Retinal Information Network
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    loss of BBS4 or OFD1 results in the accumulation of signaling mediators normally targeted for proteasomal degradation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS