CNGB1

Cyclic nucleotide gated channel beta 1
Identifiers
Symbols	CNGB1 ; CNCG2; CNCG3L; CNCG4; CNG4; CNGB1B; GAR1; GARP; GARP2; RCNC2; RCNCb; RCNCbeta; RP45
External IDs	OMIM: 600724 HomoloGene: 993 IUPHAR: 398 GeneCards: CNGB1 Gene
Gene ontology Molecular function • intracellular cAMP activated cation channel activity • intracellular cGMP activated cation channel activity • voltage-gated potassium channel activity • protein binding • ligand-gated ion channel activity • cAMP binding • cGMP binding Cellular component • Golgi membrane • photoreceptor outer segment • plasma membrane • integral component of plasma membrane • Golgi-associated vesicle membrane • ciliary membrane • transmembrane transporter complex Biological process • retina homeostasis • transport • cation transport • organelle organization • visual perception • phototransduction, visible light • sensory perception of smell • rhodopsin mediated signaling pathway • regulation of rhodopsin mediated signaling pathway • protein localization to organelle • photoreceptor cell outer segment organization • regulation of membrane potential • photoreceptor cell maintenance • detection of light stimulus involved in visual perception • potassium ion transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	1258	333329
Ensembl	ENSG00000070729	ENSMUSG00000031789
UniProt	Q14028	Q80XL8
RefSeq (mRNA)	NM_001135639	NM_001195413
RefSeq (protein)	NP_001129111	NP_001182342
Location (UCSC)	Chr 16: 57.88 – 57.97 Mb	Chr 8: 95.24 – 95.28 Mb
PubMed search

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

See also

• Cyclic nucleotide-gated ion channel

References

1. "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.
• 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. 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.
• 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. doi:10.1038/23468. PMID 10466724.
• 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.
• 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. doi:10.1038/362764a0. PMID 7682292.
• 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. 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 US National Library of Medicine Medical Subject Headings (MeSH)