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CNGB1

Family: Cyclic nucleotide-regulated channels

Contents:
Gene and Protein Information
Previous and Unofficial Names
Database Links
Associated Proteins
Pore Blockers
Tissue Distribution
Functional Assays
Physiological Functions
Phenotypes, Alleles and Disease Models
Clinically-Relevant Mutations and Pathophysiology
Biologically Significant Variants
References
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 1-3,9-10
Mouse 6 1 1305 8 D1 Cngb1 cyclic nucleotide gated channel beta 1
Rat 6 1 1339 19p12 Cngb1 cyclic nucleotide gated channel beta 1 8,14-15
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 ENSG00000070729 (Hs), ENSMUSG00000031789 (Mm), ENSRNOG00000031773 (Rn)
Entrez Gene 1258 (Hs), 333329 (Mm), 83686 (Rn)
GeneCards CNGB1 (Hs)
GenitoUrinary Development Molecular Anatomy Project Cngb1 (Mm)
HomoloGene 993 (Hs)
Human Protein Reference Database 07204 (Hs)
InterPro Q14028 (Hs)
KEGG Gene hsa:1258 (Hs), mmu:333329 (Mm), rno:83686 (Rn)
OMIM 600724 (Hs)
Orphanet Gene ORPHA159434 (Hs)
PharmGKB Gene PA26662 (Hs)
PhosphoSitePlus Q14028 (Hs), Q80XL8 (Mm), Q9QWK1 (Rn)
Protein Ontology (PRO) PRO:000005632 (Hs)
RefSeq Nucleotide NM_001297 (Hs), NM_001195413 (Mm), NM_145601 (Mm), NM_031809 (Rn)
RefSeq Protein NP_001288 (Hs), NP_113997 (Rn)
TreeFam ENSG00000070729 (Hs), ENSMUSG00000031789 (Mm), ENSRNOG00000031773 (Rn)
UniGene Hs. 147062 (Hs)
UniProt Q14028 (Hs)
Wikipedia CNGB1
Cyclic nucleotide-regulated channels
Search for 3D structures on the PDB
Search by keyword: Cyclic nucleotide-regulated channels CNGB1 Search by accession number: Q14028
Associated Proteins
Heteromeric Pore-forming Subunits
Name References
Not determined
Auxiliary Subunits
Name References
Not determined
Other Associated Proteins
Name References
Not determined
Pore Blocker Comments
CNGB1 confers high sensitivity to channel blockade by the inhibitor L-cis-dlitiazem [9,11,15].
Tissue Distribution
Retina.
Species:  Human
Technique:  Immunocytochemistry
References:  9-10
Retina, olfactory epithelium.
Species:  Mouse
Technique:  Immunohistochemistry
References:  12-13
Olfactory epithelium, olfactory cilia.
Species:  Rat
Technique:  Immunoblot.
References:  8
Olfactory epithelium, olfactory bulb, brain.
Species:  Rat
Technique:  Immunohistochemistry
References:  7-8
Retina, olfactory epithelium.
Species:  Rat
Technique:  In situ hybridisation
References:  8,15
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:  6,8,13,15
CNGB1b (together with CNGA4) facilitates Ca2+-calmodulin-mediated odor adaptation in olfactory sensory neurons.
Species:  Mouse
Tissue:  Olfactory epithelium.
References:  5-6,8,13,15
CNGB1a (together with CNGA4) is essential for outer segment expression of the rod CNG channel.
Species:  Mouse
Tissue:  Retina.
References:  12
CNGB1b is important for normal olfaction in mice.
Species:  Mouse
Tissue:  Olfactory epithelium.
References:  13
Together with CNGA4 this subunit is needed for ciliary targeting of the olfactory CNG channel.
Species:  Mouse
Tissue:  Olfactory epithelium.
References:  13
Phenotypes, Alleles and Disease Models Mouse data from MGI

Click here to show/hide data

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
References:  4
Click column headers to sort
Type Species Molecular location Description Reference
Missense Human G993V 4
Biologically Significant Variants
Increased cAMP sensitivity of the olfactory CNG channel, confers sensitivity to inhibition by Ca2+/CaM, ciliary targeting of the olfactory CNG channel.
Nucleotide accession:  CNGB1b 
Protein accession:  O55157 
Amino acids:  858
Type:  Splice variant
Species:  Rat
References:  6,17
Modulation by Ca2+/CaM, outer segment expression of rod CNG channel, inhibition by L-cis-diltiazem
Nucleotide accession:  CNGB1a 
Protein accession:  O35788 
Amino acids:  1339
Type:  Splice variant
Species:  Rat
References:  6,17

REFERENCES

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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. Gene, 245 (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. Genomics, 28 (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. 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]

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

7. 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]

8. 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]

9. 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. Nature, 362 (6422): 764-7. [PMID:7682292]

10. 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]

11. 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]

12. 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]

13. 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]

14. 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]

15. 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]

16. Weitz, D; Ficek, N; Kremmer, E; Bauer, PJ; Kaupp, UB. (2002) Subunit stoichiometry of the CNG channel of rod photoreceptors. Neuron, 36 (5): 881-9. [PMID:12467591]

17. Zheng, J; Trudeau, MC; Zagotta, WN. (2002) Rod cyclic nucleotide-gated channels have a stoichiometry of three CNGA1 subunits and one CNGB1 subunit. Neuron, 36 (5): 891-6. [PMID:12467592]

18. Zheng, J; Zagotta, WN. (2004) Stoichiometry and assembly of olfactory cyclic nucleotide-gated channels. Neuron, 42 (3): 411-21. [PMID:15134638]

19. Zhong, H; Molday, LL; Molday, RS; Yau, KW. (2002) The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry. Nature, 420 (6912): 193-8. [PMID:12432397]

To cite this database page, please use the following:

Martin Biel, Franz Hofmann, U. Benjamin Kaupp.
Cyclic nucleotide-regulated channels: CNGB1. Last modified on 01/03/2012. Accessed on 20/05/2013. IUPHAR database (IUPHAR-DB), http://www.iuphar-db.org/DATABASE/ObjectDisplayForward?objectId=398.


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