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FLASH GENE
Symbol BBS1 contributors: mct/npt - updated : 15-12-2020
HGNC name Bardet-Biedl syndrome 1
HGNC id 966
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • HELLGH motif
    • HOMOLOGY
    interspecies homolog to rattus Bbs1 (91.72 pc)
    homolog to murine Bbs1 (92.24 pc)
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • olfactory cilia
  • located in the neighborhood of primary cilia, including the basal body, the ciliary axoneme, and the pericentriolar region
    • basic FUNCTION
  • required for the localization of G protein-coupled receptors to primary cilia on central neurons
  • may be playing a role in eye, limb, cardiac and reproductive system development
  • playing a role in planar cell polarity
  • involved in retrograde intracellular trafficking of membrane-bound vesicles and organelles
  • 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
    • 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
  • interacting with EPAS1, ALDOB, EXOC7, FLOT1, KRT18, PAX2 (Oeffner 2008)
  • genetic interaction of BBS1 and BBS4 with the endosomal sorting complexes required for transport (ESCRT) gene TSG101 and accumulation of receptor in late endosomes, reduced endosomal recycling and reduced receptor degradation in lysosomes
  • PKD1 interacts with BBS1, BBS4, BBS5 and TTC8, four of the seven components of the BBSome
  • BBS3 and BBS1 regulate the ciliary trafficking of PKD1
  • BBS1 with the M390R mutation, responsible for 30p100 of all reported BBS disease cases, fails to interact with ARL6-GTP
  • ARL6-BBS1 interaction is reinforced by BBS9
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS1
    related resource Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • smooth muscle-specific Bbs1 knockout mice demonstrate enhanced ET-1 (endothelin-1)-induced contractility of mesenteric arteries-an effect reversed by blockade of the AT1 (angiotensin type 1 receptor) with losartan
  • postnatal deletion of the Bbs1 gene in the mediobasal hypothalamus can cause obesity in mice, arguing against an early neurodevelopmental origin of obesity in BBS