Nomenclature: CNGB1

Family: Cyclic nucleotide-regulated channels

Annotation status:  image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates. 

Contents

Gene and Protein Information
Species TM P Loops AA Chromosomal Location Gene Symbol Gene Name Reference
Human 6 1 1251 16q13 CNGB1 cyclic nucleotide gated channel beta 1 1-3,11-12
Mouse 6 1 1305 8 D1 Cngb1 cyclic nucleotide gated channel beta 1
Rat 6 1 1339 19p13 Cngb1 cyclic nucleotide gated channel beta 1 10,24-25
Previous and Unofficial Names
CNG4
CNGβ1
RCNC2
CNCG2
CNCG3L
RCNCb
GARP
GAR1
CNGB1B
glutamic acid-rich protein
Gm1959
Gm1959_predicted
LOC360297
cyclic nucleotide gated channel beta 1
cyclic nucleotide-gated cation channel beta-1
cyclic nucleotide-gated channel beta subunit 1
gene model 1959, (NCBI) (predicted)
Cngb1
Database Links
Ensembl Gene
Entrez Gene
GeneCards
GenitoUrinary Development Molecular Anatomy Project
HomoloGene
Human Protein Reference Database
InterPro
KEGG Gene
OMIM
Orphanet Gene
PharmGKB Gene
PhosphoSitePlus
Protein Ontology (PRO)
RefSeq Nucleotide
RefSeq Protein
TreeFam
UniGene Hs.
UniProtKB
Wikipedia
Associated Proteins
Heteromeric Pore-forming Subunits
Name References
Not determined
Auxiliary Subunits
Name References
Not determined
Other Associated Proteins
Name References
Calmodulin 14
CNGA1 11,19
Sodium/potassium/calcium exchanger 1 5,22
Peripherin-2 23
Ankyrin-G 17
PACS-1 16
Glutamic acid-rich protein (GARP) 21
Channel Blocker Comments
CNGB1 confers high sensitivity to channel blockade by the inhibitor L-cis-dlitiazem [11,13,25].
Tissue Distribution
Retina.
Species:  Human
Technique:  Immunocytochemistry
References:  11-12
Retina, olfactory epithelium.
Species:  Mouse
Technique:  Immunohistochemistry
References:  15,20
Olfactory epithelium, olfactory bulb, brain.
Species:  Rat
Technique:  Immunohistochemistry
References:  9-10
Retina, olfactory epithelium.
Species:  Rat
Technique:  In situ hybridisation
References:  10,25
Olfactory epithelium, olfactory cilia.
Species:  Rat
Technique:  Immunoblot.
References:  10
Functional Assays
Not established.
Species:  None
Tissue: 
Response measured: 
References: 
Physiological Functions
CNGB1b (together with CNGA4) increases the cAMP sensitivity of the native olfactory CNG channel.
Species:  None
Tissue:  Olfactory epithelium.
References:  8,10,20,25
CNGB1b is important for normal olfaction in mice.
Species:  Mouse
Tissue:  Olfactory epithelium.
References:  20
CNGB1b (together with CNGA4) facilitates Ca2+-calmodulin-mediated odor adaptation in olfactory sensory neurons.
Species:  Mouse
Tissue:  Olfactory epithelium.
References:  7-8,10,20,25
CNGB1a (together with CNGA4) is essential for outer segment expression of the rod CNG channel.
Species:  Mouse
Tissue:  Retina.
References:  15
Together with CNGA4 this subunit is needed for ciliary targeting of the olfactory CNG channel.
Species:  Mouse
Tissue:  Olfactory epithelium.
References:  20
Phenotypes, Alleles and Disease Models Mouse data from MGI

Show »

Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Cngb1tm1Hazh Cngb1tm1Hazh/Cngb1tm1Hazh
involves: 129S6/SvEvTac * BALB/cJ * C57BL/6
MGI:2664102  MP:0005402 abnormal action potential PMID: 18466748 
Cngb1tm1.1Biel Cngb1tm1.1Biel/Cngb1tm1.1Biel
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
MGI:2664102  MP:0006068 abnormal horizontal cell morphology PMID: 15634774 
Cngb1tm1Hazh Cngb1tm1Hazh/Cngb1tm1Hazh
involves: 129S6/SvEvTac * BALB/cJ * C57BL/6
MGI:2664102  MP:0004811 abnormal neuron physiology PMID: 18466748 
Cngb1tm1.1Biel Cngb1tm1.1Biel/Cngb1tm1.1Biel
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
MGI:2664102  MP:0006074 abnormal retinal rod bipolar cell morphology PMID: 15634774 
Cngb1tm1Sjpi Cngb1tm1Sjpi/Cngb1tm1Sjpi
involves: 129S/SvEv * C57BL/6
MGI:2664102  MP:0001005 abnormal retinal rod cell morphology PMID: 19339551 
Cngb1tm1.1Biel Cngb1tm1.1Biel/Cngb1tm1.1Biel
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
MGI:2664102  MP:0008456 abnormal retinal rod cell outer segment morphology PMID: 15634774 
Cngb1tm1Sjpi Cngb1tm1Sjpi/Cngb1tm1Sjpi
involves: 129S/SvEv * C57BL/6
MGI:2664102  MP:0008456 abnormal retinal rod cell outer segment morphology PMID: 19339551 
Cngb1tm1.1Biel Cngb1tm1.1Biel/Cngb1tm1.1Biel
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
MGI:2664102  MP:0004021 abnormal rod electrophysiology PMID: 15634774 
Cngb1tm1Sjpi Cngb1tm1Sjpi/Cngb1tm1Sjpi
involves: 129S/SvEv * C57BL/6
MGI:2664102  MP:0004021 abnormal rod electrophysiology PMID: 19339551 
Cngb1tm1Hazh Cngb1tm1Hazh/Cngb1tm1Hazh
involves: 129S6/SvEvTac * BALB/cJ * C57BL/6
MGI:2664102  MP:0003463 abnormal single cell response PMID: 18466748 
Cngb1tm1.1Biel Cngb1tm1.1Biel/Cngb1tm1.1Biel
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
MGI:2664102  MP:0001265 decreased body size PMID: 15634774 
Cngb1tm1.1Biel Cngb1tm1.1Biel/Cngb1tm1.1Biel
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
MGI:2664102  MP:0001262 decreased body weight PMID: 15634774 
Cngb1tm1.1Biel Cngb1tm1.1Biel/Cngb1tm1.1Biel
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
MGI:2664102  MP:0001327 decreased retinal photoreceptor cell number PMID: 15634774 
Cngb1tm1.1Biel Cngb1tm1.1Biel/Cngb1tm1.1Biel
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
MGI:2664102  MP:0002082 postnatal lethality PMID: 15634774 
Cngb1tm1.1Biel Cngb1tm1.1Biel/Cngb1tm1.1Biel
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
MGI:2664102  MP:0008450 retinal photoreceptor degeneration PMID: 15634774 
Cngb1tm1Sjpi Cngb1tm1Sjpi/Cngb1tm1Sjpi
involves: 129S/SvEv * C57BL/6
MGI:2664102  MP:0008450 retinal photoreceptor degeneration PMID: 19339551 
Clinically-Relevant Mutations and Pathophysiology
Disease:  Retinitis pigmentosa 45; RP45
OMIM:  613767
Orphanet:  791
References:  4
Click column headers to sort
Type Species Molecular location Description Reference
Frameshift/Splice defect Human 3444+1G>A 6,18
Missense Human G993V 4
Missense Human R916H 28
Missense Human R765C 26
Missense Human N986I 27
Biologically Significant Variants
Type:  Splice variant
Species:  Rat
Description:  Increased cAMP sensitivity of the olfactory CNG channel, confers sensitivity to inhibition by Ca2+/CaM, ciliary targeting of the olfactory CNG channel.
Amino acids:  858
Nucleotide accession: 
Protein accession: 
References:  8,29
Type:  Splice variant
Species:  Rat
Description:  Modulation by Ca2+/CaM, outer segment expression of rod CNG channel, inhibition by L-cis-diltiazem
Amino acids:  1339
Nucleotide accession: 
Protein accession: 
References:  8,29

REFERENCES

1. Ardell MD, Aragon I, Oliveira L, Porche GE, Burke E, Pittler SJ. (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. [PMID:8766832]

2. Ardell MD, Bedsole DL, Schoborg RV, Pittler SJ. (2000) Genomic organization of the human rod photoreceptor cGMP-gated cation channel beta-subunit gene. Gene245 (2): 311-8. [PMID:10717482]

3. Ardell MD, Makhija AK, Oliveira L, Miniou P, Viegas-Péquignot E, Pittler SJ. (1995) cDNA, gene structure, and chromosomal localization of human GAR1 (CNCG3L), a homolog of the third subunit of bovine photoreceptor cGMP-gated channel. Genomics28 (1): 32-8. [PMID:7590744]

4. Bareil C, Hamel CP, Delague V, Arnaud B, Demaille J, Claustres M. (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. [PMID:11379879]

5. Bauer PJ, Drechsler M. (1992) Association of cyclic GMP-gated channels and Na(+)-Ca(2+)-K+ exchangers in bovine retinal rod outer segment plasma membranes. J. Physiol. (Lond.)451: 109-31. [PMID:1328615]

6. Becirovic E, Nakova K, Hammelmann V, Hennel R, Biel M, Michalakis S. (2010) The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32. PLoS ONE5 (1): e8969. [PMID:20126465]

7. Bradley J, Bönigk W, Yau KW, Frings S. (2004) Calmodulin permanently associates with rat olfactory CNG channels under native conditions. Nat. Neurosci.7 (7): 705-10. [PMID:15195096]

8. Bradley J, Reisert J, Frings S. (2005) Regulation of cyclic nucleotide-gated channels. Curr. Opin. Neurobiol.15 (3): 343-9. [PMID:15922582]

9. Bradley J, Zhang Y, Bakin R, Lester HA, Ronnett GV, Zinn K. (1997) Functional expression of the heteromeric "olfactory" cyclic nucleotide-gated channel in the hippocampus: a potential effector of synaptic plasticity in brain neurons. J. Neurosci.17 (6): 1993-2005. [PMID:9045728]

10. Bönigk W, Bradley J, Müller F, Sesti F, Boekhoff I, Ronnett GV, Kaupp UB, Frings S. (1999) The native rat olfactory cyclic nucleotide-gated channel is composed of three distinct subunits. J. Neurosci.19 (13): 5332-47. [PMID:10377344]

11. Chen TY, Peng YW, Dhallan RS, Ahamed B, Reed RR, Yau KW. (1993) A new subunit of the cyclic nucleotide-gated cation channel in retinal rods. Nature362 (6422): 764-7. [PMID:7682292]

12. Colville CA, Molday RS. (1996) Primary structure and expression of the human beta-subunit and related proteins of the rod photoreceptor cGMP-gated channel. J. Biol. Chem.271 (51): 32968-74. [PMID:8955140]

13. Grunwald ME, Yu WP, Yu HH, Yau KW. (1998) Identification of a domain on the beta-subunit of the rod cGMP-gated cation channel that mediates inhibition by calcium-calmodulin. J. Biol. Chem.273 (15): 9148-57. [PMID:9535905]

14. Hsu YT, Molday RS. (1994) Interaction of calmodulin with the cyclic GMP-gated channel of rod photoreceptor cells. Modulation of activity, affinity purification, and localization. J. Biol. Chem.269 (47): 29765-70. [PMID:7525588]

15. Hüttl S, Michalakis S, Seeliger M, Luo DG, Acar N, Geiger H, Hudl K, Mader R, Haverkamp S, Moser M, Pfeifer A, Gerstner A, Yau KW, Biel M. (2005) Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1. J. Neurosci.25 (1): 130-8. [PMID:15634774]

16. Jenkins PM, Zhang L, Thomas G, Martens JR. (2009) PACS-1 mediates phosphorylation-dependent ciliary trafficking of the cyclic-nucleotide-gated channel in olfactory sensory neurons. J. Neurosci.29 (34): 10541-51. [PMID:19710307]

17. Kizhatil K, Baker SA, Arshavsky VY, Bennett V. (2009) Ankyrin-G promotes cyclic nucleotide-gated channel transport to rod photoreceptor sensory cilia. Science323 (5921): 1614-7. [PMID:19299621]

18. Kondo H, Qin M, Mizota A, Kondo M, Hayashi H, Hayashi K, Oshima K, Tahira T, Hayashi K. (2004) A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. Invest. Ophthalmol. Vis. Sci.45 (12): 4433-9. [PMID:15557452]

19. Körschen HG, Illing M, Seifert R, Sesti F, Williams A, Gotzes S, Colville C, Müller F, Dosé A, Godde M et al.. (1995) A 240 kDa protein represents the complete beta subunit of the cyclic nucleotide-gated channel from rod photoreceptor. Neuron15 (3): 627-36. [PMID:7546742]

20. Michalakis S, Reisert J, Geiger H, Wetzel C, Zong X, Bradley J, Spehr M, Hüttl S, Gerstner A, Pfeifer A, Hatt H, Yau KW, Biel M. (2006) Loss of CNGB1 protein leads to olfactory dysfunction and subciliary cyclic nucleotide-gated channel trapping. J. Biol. Chem.281 (46): 35156-66. [PMID:16980309]

21. Michalakis S, Zong X, Becirovic E, Hammelmann V, Wein T, Wanner KT, Biel M. (2011) The glutamic acid-rich protein is a gating inhibitor of cyclic nucleotide-gated channels. J. Neurosci.31 (1): 133-41. [PMID:21209198]

22. Molday RS, Molday LL. (1998) Molecular properties of the cGMP-gated channel of rod photoreceptors. Vision Res.38 (10): 1315-23. [PMID:9666999]

23. Poetsch A, Molday LL, Molday RS. (2001) 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. [PMID:11641407]

24. Sautter A, Biel M, Hofmann F. (1997) Molecular cloning of cyclic nucleotide-gated cation channel subunits from rat pineal gland. Brain Res. Mol. Brain Res.48 (1): 171-5. [PMID:9379842]

25. Sautter A, Zong X, Hofmann F, Biel M. (1998) An isoform of the rod photoreceptor cyclic nucleotide-gated channel beta subunit expressed in olfactory neurons. Proc. Natl. Acad. Sci. U.S.A.95 (8): 4696-701. [PMID:9539801]

26. Schorderet DF, Iouranova A, Favez T, Tiab L, Escher P. (2013) IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies. Biomed Res Int2013: 198089. [PMID:23484092]

27. Simpson DA, Clark GR, Alexander S, Silvestri G, Willoughby CE. (2011) Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. J. Med. Genet.48 (3): 145-51. [PMID:21147909]

28. Song J, Smaoui N, Ayyagari R, Stiles D, Benhamed S, MacDonald IM, Daiger SP, Tumminia SJ, Hejtmancik F, Wang X. (2011) High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. Invest. Ophthalmol. Vis. Sci.52 (12): 9053-60. [PMID:22025579]

29. Zheng J, Trudeau MC, Zagotta WN. (2002) Rod cyclic nucleotide-gated channels have a stoichiometry of three CNGA1 subunits and one CNGB1 subunit. Neuron36 (5): 891-6. [PMID:12467592]

To cite this database page, please use the following:

Elvir Becirovic, Martin Biel.
Cyclic nucleotide-regulated channels: CNGB1. Last modified on 17/03/2014. Accessed on 19/04/2014. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=398.

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