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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
Corresponding disease
BBS9 Bardet-Biedl syndrome 9
Location 7p14.3      Physical location : 33.169.151 - 33.645.680
Synonym name
  • PTH-responsive osteosarcoma B1 protein
  • parathyroid hormone-responsive B1
  • Synonym symbol(s) B1, D1, C18, PTHB1, MGC118917
    DNA
    TYPE functioning gene
    STRUCTURE 507.99 kb     23 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 3899 - 847 lowly 2007 17574030
    lack exons 15, 16
    23 - 4019 99.3 887 ubiquitous 2007 17574030
    21 splicing 3914 - 852 - 2007 17574030
    differential utilization of exons 22, 23, 24
    23 - 4004 - 882 - 2007 17574030
    23 - 3785 - 887 - 2007 17574030
    23 - 4883 - 908 - 2007 17574030
    23 - 4023 - 796 - 2007 17574030
    22 - 3918 - 761 - 2007 17574030
    23 - 4016 - 886 - 2007 17574030
    21 - 3896 - 846 - 2007 17574030
    21 - 3771 - 704 - 2007 17574030
    22 - 3896 - 842 - 2007 17574030
    21 - 3831 - 765 - 2007 17574030
    20 - 3680 - 765 - 2007 17574030
    22 - 3629 - 871 - 2007 17574030
    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
    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