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FLASH GENE
Symbol CNGB1 contributors: mct - updated : 09-05-2018
HGNC name cyclic nucleotide gated channel beta 1
HGNC id 2151
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Olfactoryolfactory bulb    
Visualeyeretina   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningretinal pigment epithelium (RPE)  
Epithelialsensoryvisualouter nuclear layer 
cells
SystemCellPubmedSpeciesStageRna symbol
smellnose
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal cytoplasmic binding site for calmodulin, and N terminus of CNGB1 and soluble GARPs act as molecular gate keepers that control the activation of heteromeric rod CNG channels
  • six transmembrane segments
  • a pore domain between TM5 and TM6
  • a cytoplasmic terminal tail
  • the last 28 AA of CNGB1 harbor a motif required for the proper targeting of this subunit to rod photoreceptor outer segments
  • a C terminal comprising the cGMP binding site
  • secondary structure two subunits alpha (63KD) and beta (240KD)
    mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies homolog to rattus cngb1
    Homologene
    FAMILY cyclic nucleotide-gated cation channel family
    CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • cyclic guanine nucleotide gated channel (cGMP) rod photoreceptor
  • mediating Ca2-calmodulin modulation
  • having a dual function; first, it endows the olfactory CNG channel with a variety of biophysical properties tailored to the specific requirements of olfactory transduction, and second, together with the CNGA4 subunit, is needed for ciliary targeting of the olfactory CNG channel
  • having a pivotal role in the degenerative process
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text small molecule transport
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component constituent of 240kDa channel
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARRP16
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialvisualretina
    modulation of rod CNGB1 channel activity is a most promising target for the treatment in retinal degenerations with elevated cellular levels of cGMP
    ANIMAL & CELL MODELS
  • treated by gene therapy CNGB1-/- mice gained the ability to navigate using information provided by the rod visual system