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FLASH GENE
Symbol BBS5 contributors: mct/npt - updated : 15-12-2020
HGNC name Bardet-Biedl syndrome 5
HGNC id 970
Corresponding disease
BBS5 Bardet-Biedl syndrome 5
Location 2q31.1      Physical location : 170.336.005 - 170.363.164
Synonym symbol(s) DKFZp762I194
DNA
TYPE functioning gene
STRUCTURE 27.16 kb     12 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
text alternate transcriptional splice variants
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 3159 38 341 - 2019 30850397
- splicing - - - restricted to the retina 2016 26867008
  • 10p100 of full-length BBS5 level
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to murine Bbs5
    ortholog to rattus Bbs5_predicted
    intraspecies homolog to BBS1
    Homologene
    FAMILY
  • BBS5 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text basal bodies
    basic FUNCTION
  • playing a necessary role for the generation of both cilia and flagella
  • required for the localization of G protein-coupled receptors to primary cilia on central neurons
  • involved in planar cell polarity
  • involved in retrograde intracellular trafficking of membrane-bound vesicles and organelles
  • 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
  • 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
  • interacting with VANGL2
  • PKD1 interacts with BBS1, BBS4, BBS5 and TTC8, four of the seven components of the BBSome
  • BBS4 and BBS5 interact directly and coordinate the ciliary removal of polycystin 2
  • ERICH3 ciliary localisations require ARL13B and BBSome components (BBS5)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS