CNGB1

Cyclic nucleotide gated channel beta 1
Identifiers
Symbols	CNGB1; CNCG2; CNCG3L; CNCG4; CNG4; CNGB1B; GAR1; GARP; RCNC2; RCNCb; RCNCbeta; RP45
External IDs	OMIM: 600724 HomoloGene: 993 IUPHAR: CNGB1 GeneCards: CNGB1 Gene
Gene Ontology Molecular function • nucleotide binding • intracellular cAMP activated cation channel activity • ligand-gated ion channel activity • cAMP binding Cellular component • membrane fraction • membrane • integral to membrane • intracellular cyclic nucleotide activated cation channel complex Biological process • transport • ion transport • visual perception • phototransduction • sensory perception of smell • photoreceptor cell maintenance • response to stimulus 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_001135639.1	XM_001476198
RefSeq (protein)	NP_001129111.1	XP_001476248
Location (UCSC)	Chr 16: 57.92 – 58.01 Mb	Chr 8: 97.76 – 97.81 Mb
PubMed search	[1]	[2]

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". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1258. 

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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=123083. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=86556. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=45311. 
• 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
• MeSH CNGB1+protein,+human

Na+: Sodium channel
Constitutively active Epithelial sodium channel (α, β, γ, δ) Proton gated Amiloride-sensitive cation channel (1, 2, 3, 4) Voltage-gated Navα (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8, 1.9, 7A) · Navβ (1, 2, 3, 4)

K+: Potassium channel
Voltage-gated Kvα1-6 (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8) · (2.1, 2.2) · (3.1, 3.2, 3.3, 3.4) · (4.1, 4.2, 4.3) · (5.1) · (6.1, 6.2, 6.3, 6.4) Kvα7-12 (7.1, 7.2, 7.3, 7.4, 7.5) · (8.1, 8.2) · (9.1, 9.2, 9.3) · (10.1, 10.2) · (11.1/hERG, 11.2, 11.3) · (12.1, 12.2, 12.3) Kvβ (1, 2, 3) · KCNIP (1, 2, 3, 4) · minK/ISK · minK/ISK-like · MiRP (1, 2, 3) · Shaker gene Calcium-activated BK channel (α1, β1, β2, β3, β4) · SK channel (SK1, SK2, SK3, SK4) · KCa (1.1, 2.1, 2.2, 2.3, 3.1, 4.1, 4.2, 5.1) Inward-rectifier KATP · Kir (1.1, 2.1, 2.2, 2.3, 2.4, 2.6) · GIRK/Kir (3.1, 3.2, 3.3, 3.4) · Kir (4.1, 4.2, 5.1, 6.1, 6.2, 7.1) Tandem pore domain K2P (1, 2, 3, 4, 5, 6, 7, 9, 10, 12, 13, 15, 16, 17, 18)

Other
Cl-: Chloride channel ANO1 · Bestrophin (1, 2) · CFTR · CLCA (1, 2, 3, 4) · CLCN (1, 2, 3, 4, 5, 6, 7, KA, KB) · CLIC (1, 2, 3, 4, 5, 6, L1) · CLNS (1A, 1B) H+: Voltage-gated HVCN1 M+: TRP cation channel TRPA (1) · TRPC (1, 2, 3, 4, 4AP, 5, 6, 7) · TRPM (1, 2, 3, 4, 5, 6, 7, 8) · TRPML (1, 2, 3) · TRPP (1, 2) · TRPV (1, 2, 3, 4, 5, 6) Cyclic nucleotide-gated (FC) α (1, 2, 3, 4) · β (1, 2, 3) · HCN (1, 2, 3, 4) Porin Aquaporin (1, 2, 3, 4, 5, 7, 8, 9) · Voltage-dependent anion channel (1, 2, 3) · General bacterial porin family Gap junction Connexin: A (GJA1, GJA3, GJA4, GJA5, GJA8, GJA9, GJA10) · B (GJB1, GJB2, GJB3, GJB4, GJB5, GJB6, GJB7) · C (GJC1, GJC2, GJC3) · D (GJD2, GJD3, GJD4)) Innexin General Ligand-gated ion channel · Voltage-gated ion channel · Stretch-activated ion channel

see also disorders
B memb: cead, trns (1A, 1C, 1F, 2A, 3A1, 3A2-3, 3D), othr