CNGB1

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; OMA:CNGB1 - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	57,971,128 bp
RNA expression pattern
	Top expressed in
	buccal mucosa cell; ; Epithelium of choroid plexus; ; testicle; ; retinal pigment epithelium; ; hypothalamus; ; cingulate gyrus; ; anterior cingulate cortex; ; lateral nuclear group of thalamus; ; entorhinal cortex; ; dorsolateral prefrontal cortex;
	n/a
	More reference expression data
	; ; ; ;
	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
	1258
	n/a
	ENSG00000070729
	n/a
	Q14028
	n/a
	NM_001135639; NM_001286130; NM_001297
	n/a
	NP_001129111; NP_001273059; NP_001288
	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]

References

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

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. Bibcode:1996FEBSL.389..213A. 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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000070729 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-3] "Entrez Gene: CNGB1 cyclic nucleotide gated channel beta 1".

[1]

[2]

[3]

CNGB1

See also

References

Further reading

External links