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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
Corresponding disease
ARRP16 retinitis pigmentosa autosomal recessive, 16
Location 16q13      Physical location : 57.916.243 - 58.005.020
Synonym name
  • cyclic nucleotide-gated cation channel 4
  • glutamic acid rich protein
  • CNG channel 4
  • cyclic nucleotide gated channel (photoreceptor), cGMP gated 3
  • (gamma)-like
    Synonym symbol(s) CNCG2, CNCG3L, GAR1, GARP, RCN2, CNG4, CNGB1B, RCNC2, RCNCb, RCNCbeta, RP45
    DNA
    TYPE functioning gene
    STRUCTURE 88.78 kb     33 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    SLC12A3 16q13 solute carrier family 12 (sodium/chloride transporters), member 3 HERPUD1 16q12.2-13 homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 CETP 16q13 cholesteryl ester transfer protein, plasma NOD27 16q13 nucleotide-binding oligomerization domains 27 CPNE2 16q13 copine II NIP30 16q13 NEFA-interacting nuclear protein NIP30 KIAA1972 16q13 KIAA1972 protein TM4SF11 16q12-q13 transmembrane 4 superfamily member 11 (plasmolipin) BART1 CX3CL1 16q13 chemokine (C-X3-C motif) ligand 1 CCL22 16q13 chemokine (C-C motif) ligand 22 CCL17 16q13 chemokine (C-C motif) ligand 17 LOC57019 16q13-q21 hypothetical protein LOC57019 POLR2C 16q13-q21 polymerase (RNA) II (DNA directed) polypeptide C, 33kDa DOK4 16q13 docking protein 4 MGC10992 16q13 hypothetical protein LOC92922 GPR114 16q13 G protein-coupled receptor 114 LOC255519 16q13 similar to high mobility group protein homolog HMG4 GPR56 16q13 G protein-coupled receptor 56 GPR97 16q13 G protein-coupled receptor 97 DKFZp434I099 16q13 hypothetical protein DKFZp434I099 KATNB1 16q13 katanin p80 (WD repeat containing) subunit B 1 KIFC3 16q13-q21 kinesin family member C3 LOC388282 16 hypothetical gene supported by AF452719; BC041062 CNGB1 16q13 cyclic nucleotide gated channel beta 1 TEPP 16q13 testis/prostate/placenta-expressed protein ZNF319 16q21 zinc finger protein 319 FLJ13154 16q13 hypothetical protein FLJ13154 MMP15 16q13-q21 matrix metalloproteinase 15 (membrane-inserted) GTL3 16q13 likely ortholog of mouse gene trap locus 3 CSNK2A2 16p13.3-p13.2 casein kinase 2, alpha prime polypeptide HSPC065 16q13 HSPC065 protein FLJ13912 16q13 hypothetical protein FLJ13912 NDRG4 16q21-q22.3 NDRG family member 4 FLJ21148 16q13 hypothetical protein FLJ21148 KIAA1007 16q21 hypothetical protein FLJ21148 FLJ10815 16q13 hypothetical protein FLJ10815 GOT2 16q21 glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    33 - 5663 139.6 1251 - 2009 19710307
    CNGB1
    13 - 1648 32.5 299 - 2009 19710307
  • GARP2/CNCG3L, CNGB1b
  • transcript unit from the N terminus of CNGB1
  • contains two putative PACS1 binding sites, which are phosphorylated by the serine/threonine protein kinase, CSNK2A1
  • 33 - 5645 - 1245 - 2009 19710307
    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
  • 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