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FLASH GENE
Symbol BBS9 contributors: mct/npt/pgu - updated : 05-06-2019
HGNC name Bardet-Biedl syndrome 9
HGNC id 30000
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
Reproductivemale systemtestis  highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a beta-stranded N-terminal domain, a seven-bladed beta-propeller
  • C-terminal half of BBS9 dimerizes in solution, and this C-terminal dimerization interface might be important for the assembly of the BBSome
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus
    basic FUNCTION
  • may be involved in parathyroid hormone action in bones
  • required for the localization of G protein-coupled receptors to primary cilia on central neurons
  • mediate LEPR trafficking and impaired LEPR signaling underlies energy imbalance in the disease
  • key conserved role of BBS9 in biogenesis and/or function of cilia
  • play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels
  • required for ciliogenesis during cranial suture development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    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
  • part of a BBS7-BBS2-BBS9 assembly intermediate referred to as the BBSome core complex because it forms the core of the BBSome
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ARL6-BBS1 interaction is reinforced by BBS9
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS9
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    translocation t(1;7)(q42;p15) associated with WT5 in a child with Wilms tumor and skeletal abnormalities
    Susceptibility
  • to nonsyndromic sagittal craniosynostosis
  • Variant & Polymorphism SNP
  • within a 167-kb region of BBS9 between rs10262453 and rs17724206, susceptibility loci for nonsyndromic sagittal craniosynostosis
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Bbs9 expression increased during in vivo ossification of rat sutures