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FLASH GENE
Symbol BEST1 contributors: shn - updated : 28-03-2017
HGNC name bestrophin 1
HGNC id 12703
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • four putative transmembrane domains
  • C-terminal region interacts with protein phophatase 2A
    • mono polymer dimer , trimer
    HOMOLOGY
    interspecies ortholog to Best1, Rattus norvegicus
    ortholog to Best1, Mus musculus
    ortholog to BEST1, Pan troglodytes
    Homologene
    FAMILY
  • strongly homolog to C.elegans RFP family
  • bestrophin family
    • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • located at the basolateral membrane of the retinal pigment epithelium in which it probably functions as a Cl- channel
  • integral membrane protein, localized predominantly to the basolateral membrane of the retinal pigment epithelium
    • basic FUNCTION
  • playing a role in cell proliferation
  • able to form Ca2+ - activated Cl- channels
  • may contribute to the basolateral cell conductance in airway epithelial cells
  • may be a component of a Cl- channel complex in epithelial tissues
  • causes Ca2+ -activated Cl- conductance in epithelial
    • tissues
  • displayed a significant glutamate conductance and this current was associated with a sensor current
  • KCNK2 and BEST1 mediate fast and slow glutamate release in acutely dissociated astrocytes
  • BEST1-mediated astrocytic glutamate release targets neuronal postsynaptic NMDAR, whereas KCNK2-mediated release does not
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text chloride channel calcium sensitive
    PATHWAY
    metabolism
    signaling signal transduction , sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • protein phosphatase 2A, PP2A
  • PPP2CB
  • PPP2R1B
  • direct target of OTX2, and possibly CRX
    • cell & other
    REGULATION
    Other regulated by MITF and OTX2
    ASSOCIATED DISORDERS
    corresponding disease(s) VMD2 , RP50 , ADVIRC , ARB
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    many mutations involved in Best vitelliform macular dystrophy by forming non functional channels (mutations disrupting an N-C terminal interaction in the multimer)
    tumoral     --over  
    in colonic cancer cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS