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FLASH GENE
Symbol BBS5 contributors: mct/npt - updated : 06-07-2009
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 - 3196 38 341 - Nachury (2007)
EXPRESSION
Type
constitutive of
   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,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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS