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FLASH GENE
Symbol BEST1 contributors: shn - updated : 28-03-2017
HGNC name bestrophin 1
HGNC id 12703
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 splicing 2690 67.55 585 retinal pigment epithelium, airway epithelial cells 2004 15556645
9 splicing 2852 69 604 retinal pigment epithelium, airway epithelial cells 2004 15556645
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivesalivary gland   highly
Endocrinepancreas   moderately
Hearing/Equilibriumearinnercochlea highly
Nervousbrainlimbic systemhippocampus moderately Homo sapiens
Reproductivefemale systemuteruscervix highly
 female systemovary  moderately
 male systemtestis  highly Homo sapiens
Respiratorylung   moderately
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
Connectivebone  highly
Epithelialbarrier/liningretinal pigment epithelium (RPE) predominantly Homo sapiens
Muscularstriatumskeletal highly
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousastrocyte Homo sapiens
ReproductiveSertoli cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
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