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FLASH GENE
Symbol CNGA1 contributors: mct - updated : 11-12-2020
HGNC name cyclic nucleotide gated channel alpha 1
HGNC id 2148
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   predominantly
Nervousbrainlimbic systemhippocampusdentate gyrus 
 brainhindbraincerebellum  
Olfactoryolfactory bulb    
Reproductivemale systemprostate  moderately
Visualeyeretina  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsensoryolfactory  
Muscular    
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
Text can be detected in growth cones
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six transmembrane segments
  • a pore domain between TM5 and TM6
  • a cytoplasmic N terminal tail
  • a C terminal comprising a cNMP binding site and a leucine zipper homology domain (CLZ)
  • conjugated GlycoP
    mono polymer heteromer , tetramer , oligo
    HOMOLOGY
    interspecies ortholog to murine Cnga1
    ortholog to rattus Cnga1
    ortholog to Canis familiari CNGC1
    Homologene
    FAMILY
  • cyclic nucleotide-gated cation channel family
  • CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    text
  • rod outer segment
  • integral to plasma membrane
  • basic FUNCTION
  • ligand gated ion (Na+/Ki/Ca2+)channel of rod receptors
  • having a pivotal role in the degenerative process
  • CNGA1 is indispensable for channel activation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , cellular trafficking transport
    text neuronal function
    PATHWAY
    metabolism
    signaling sensory transduction/olfaction , sensory transduction/vision
  • visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger
  • a component
  • forming an heterotetramer with CNGB1 formed by three A and one B subunits
  • forming heterooligomeric complex with CNG4
  • INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
  • cGMP
  • cation
  • protein
  • CNGB1
  • GRB14 interacts with the rod photoreceptor-specific cyclic-nucleotide-gated channel alpha subunit (CNGA1) and decreases its affinity for cyclic guanosine monophosphate
  • F-actin is essential for the trafficking of CNGA1 to the ciliary plasma membrane (PM) , and coordinates the formations of disk membrane rim region and outer segment (OS) PM
  • cell & other
    REGULATION
    activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors
    Other closed in the light
    ASSOCIATED DISORDERS
    corresponding disease(s) RP16
    related resource CNGA1 Mutations
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialvisualretina
    modulation of rod CNGA1 channel activity is a most promising target for the treatment in retinal degenerations with elevated cellular levels of cGMP
    ANIMAL & CELL MODELS
    mice lacking CNG3 display a selective loss of cone function