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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
Corresponding disease
BBS7 Bardet-Biedl syndrome 7
Location 4q27      Physical location : 122.745.638 - 122.791.642
Synonym name BBS2-like protein 1
Synonym symbol(s) BBS2L1, FLJ10715
DNA
TYPE functioning gene
STRUCTURE 46.17 kb     19 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 2625 - 672 ubiquitous 2006 16327777
19 - 3863 78.5 715 - 2006 16327777
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel    
Reproductivemale systemprostate   
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscular    
cell lineage
cell lines
fluid/secretion
at STAGE
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