CNGB1

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

CNGB1
Identifiers
Aliases	CNGB1, 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 IDs	OMIM: 600724 HomoloGene: 993 GeneCards: CNGB1
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q21 Start 57,882,340 bp[1] End 57,971,128 bp[1]
RNA expression pattern 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 • GO:0001948 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 • cell 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
Species	Human	Mouse
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 Mb	n/a
PubMed search	[2]	n/a
Wikidata
View/Edit Human

See also

• Cyclic nucleotide-gated ion channel

References

1. 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. 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. 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. 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. 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)
• 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.