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FLASH GENE
Symbol BBS7 contributors: mct/npt/pgu - updated : 19-05-2015
HGNC name Bardet-Biedl syndrome 7
HGNC id 18758
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • beta-propeller region
  • coiled- coil region
  • HOMOLOGY
    interspecies ortholog to murine Bbs2l1
    Homologene
    FAMILY
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus
    text ciliated neurons and basal bodies
    basic FUNCTION
  • involved in planar cell polarity
  • required for normal localization of specific intraflagellar transport
  • 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
  • probably has a nuclear role by virtue of the presence of a biologically confirmed nuclear export signal
  • is required for BBSome formation, and BBS7 and BBS2 depend on each other for protein stability
  • is involved in specific membrane protein localization to cilia
  • 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
    text putatively involved on eye, limb, cardiac, reproductive developement
    PATHWAY
    metabolism
    signaling signal transduction , 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
  • BBS7 interacts with BBS2 and becomes 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
  • interacting with VANGL2
  • interacting with EPAS1, ALDOB, EXOC7, FLOT1, KRT18, PAX2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    rescues head size and neuroanatomical defects of KCTD13 morphants
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS