CNGB1

Protein-coding gene in the species Homo sapiens
CNGB1
Identifiers
AliasesCNGB1, CNCG2, CNCG3L, CNCG4, CNG4, CNGB1B, GAR1, GARP, GARP2, RCNC2, RCNCb, RCNCbeta, RP45, cyclic nucleotide gated channel beta 1, cyclic nucleotide gated channel subunit beta 1
External IDsOMIM: 600724 HomoloGene: 993 GeneCards: CNGB1
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for CNGB1
Genomic location for CNGB1
Band16q21Start57,882,340 bp[1]
End57,971,128 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • retinal pigment epithelium

  • hypothalamus

  • cingulate gyrus

  • entorhinal cortex

  • dorsolateral prefrontal cortex

  • blood

  • pons

  • superior frontal gyrus

  • Brodmann area 9

  • hippocampus proper
    n/a
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • nucleotide binding
  • intracellular cyclic nucleotide activated cation channel activity
  • cyclic nucleotide-gated ion channel activity
  • cAMP binding
  • cGMP binding
  • protein binding
  • ligand-gated ion channel activity
  • voltage-gated potassium channel activity
  • intracellular cGMP-activated cation channel activity
  • intracellular cAMP-activated cation channel activity
Cellular component
  • integral component of membrane
  • membrane
  • Golgi membrane
  • photoreceptor outer segment
  • ciliary membrane
  • Golgi-associated vesicle membrane
  • transmembrane transporter complex
  • terminal bouton
  • intracellular cyclic nucleotide activated cation channel complex
  • plasma membrane
  • integral component of plasma membrane
Biological process
  • protein localization to organelle
  • response to stimulus
  • regulation of rhodopsin mediated signaling pathway
  • regulation of membrane potential
  • cation transport
  • ion transport
  • photoreceptor cell outer segment organization
  • cation transmembrane transport
  • detection of light stimulus involved in visual perception
  • sensory perception of smell
  • retina homeostasis
  • photoreceptor cell maintenance
  • visual perception
  • rhodopsin mediated signaling pathway
  • phototransduction
  • regulation of cytosolic calcium ion concentration
  • potassium ion transmembrane transport
  • protein heterotetramerization
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

1258

n/a

Ensembl

ENSG00000070729

n/a

UniProt

Q14028

n/a

RefSeq (mRNA)

NM_001135639
NM_001286130
NM_001297

n/a

RefSeq (protein)

NP_001129111
NP_001273059
NP_001288

n/a

Location (UCSC)Chr 16: 57.88 – 57.97 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Cyclic nucleotide gated channel beta 1, also known as CNGB1, is a human gene encoding an ion channel protein.[3]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000070729 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Entrez Gene: CNGB1 cyclic nucleotide gated channel beta 1".

Further reading

  • Hofmann F, Biel M, Kaupp UB (2006). "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels". Pharmacol. Rev. 57 (4): 455–62. doi:10.1124/pr.57.4.8. PMID 16382102. S2CID 45853869.
  • Kondo H, Qin M, Mizota A, et al. (2005). "A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers". Invest. Ophthalmol. Vis. Sci. 45 (12): 4433–9. doi:10.1167/iovs.04-0544. PMID 15557452.
  • Trudeau MC, Zagotta WN (2002). "Mechanism of calcium/calmodulin inhibition of rod cyclic nucleotide-gated channels". Proc. Natl. Acad. Sci. U.S.A. 99 (12): 8424–9. Bibcode:2002PNAS...99.8424T. doi:10.1073/pnas.122015999. PMC 123083. PMID 12048242.
  • Poetsch A, Molday LL, Molday RS (2002). "The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes". J. Biol. Chem. 276 (51): 48009–16. doi:10.1074/jbc.M108941200. PMID 11641407.
  • Bareil C, Hamel CP, Delague V, et al. (2001). "Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa". Hum. Genet. 108 (4): 328–34. doi:10.1007/s004390100496. PMID 11379879. S2CID 42042382.
  • Pogacić V, Dragon F, Filipowicz W (2000). "Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10". Mol. Cell. Biol. 20 (23): 9028–40. doi:10.1128/MCB.20.23.9028-9040.2000. PMC 86556. PMID 11074001.
  • Körschen HG, Beyermann M, Müller F, et al. (1999). "Interaction of glutamic-acid-rich proteins with the cGMP signalling pathway in rod photoreceptors". Nature. 400 (6746): 761–6. Bibcode:1999Natur.400..761K. doi:10.1038/23468. PMID 10466724. S2CID 4394997.
  • Ardell MD, Aragon I, Oliveira L, et al. (1996). "The beta subunit of human rod photoreceptor cGMP-gated cation channel is generated from a complex transcription unit". FEBS Lett. 389 (2): 213–8. doi:10.1016/0014-5793(96)00588-1. PMID 8766832. S2CID 37174534.
  • Chen TY, Peng YW, Dhallan RS, et al. (1993). "A new subunit of the cyclic nucleotide-gated cation channel in retinal rods". Nature. 362 (6422): 764–7. Bibcode:1993Natur.362..764C. doi:10.1038/362764a0. PMID 7682292. S2CID 4350775.
  • Ardell MD, Makhija AK, Oliveira L, et al. (1995). "cDNA, gene structure, and chromosomal localization of human GAR1 (CNCG3L), a homolog of the third subunit of bovine photoreceptor cGMP-gated channel". Genomics. 28 (1): 32–8. doi:10.1006/geno.1995.1102. PMID 7590744.
  • Chen TY, Illing M, Molday LL, et al. (1994). "Subunit 2 (or beta) of retinal rod cGMP-gated cation channel is a component of the 240-kDa channel-associated protein and mediates Ca(2+)-calmodulin modulation". Proc. Natl. Acad. Sci. U.S.A. 91 (24): 11757–61. Bibcode:1994PNAS...9111757C. doi:10.1073/pnas.91.24.11757. PMC 45311. PMID 7526403.
  • Fujii Y, Zhao FX, Fu SC, et al. (1992). "Stable preparation of aldose reductase isoenzymes from human placenta". Protein Expr. Purif. 2 (5–6): 420–5. doi:10.1016/1046-5928(91)90103-P. PMID 1821816.

External links

  • GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
  • CNGB1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
  • Human CNGB1 genome location and CNGB1 gene details page in the UCSC Genome Browser.
  • Human GAR1 genome location and GAR1 gene details page in the UCSC Genome Browser.
  • v
  • t
  • e
Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl−: Chloride channel
H+: Proton channel
M+: CNG cation channel
M+: TRP cation channel
H2O (+ solutes): Porin
Cytoplasm: Gap junction
By gating mechanism
Ion channel class
see also disorders


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