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CNGB1

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Target id: 398

Nomenclature: CNGB1

Family: Cyclic nucleotide-regulated channels (CNG)

Contents:

Gene and Protein Information Click here for help
Species TM P Loops AA Chromosomal Location Gene Symbol Gene Name Reference
Human 6 1 1251 16q21 CNGB1 cyclic nucleotide gated channel subunit 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 subunit beta 1 10,24-25
Previous and Unofficial Names Click here for help
CNG4 | CNCG3L | CNGB1B | GAR1 | GARP | glutamic acid-rich protein | CNCG2 | CNGβ1
Database Links Click here for help
Alphafold Q14028 (Hs)
CATH/Gene3D 2.60.120.10
Ensembl Gene ENSG00000070729 (Hs), ENSMUSG00000031789 (Mm), ENSRNOG00000031773 (Rn)
Entrez Gene 1258 (Hs), 333329 (Mm), 83686 (Rn)
Human Protein Atlas ENSG00000070729 (Hs)
KEGG Gene hsa:1258 (Hs), mmu:333329 (Mm), rno:83686 (Rn)
OMIM 600724 (Hs)
Orphanet ORPHA159434 (Hs)
Pharos Q14028 (Hs)
RefSeq Nucleotide NM_001297 (Hs), NM_145601 (Mm), NM_001195413 (Mm), AF068572 (Rn), AJ000496 (Rn), NM_031809 (Rn)
RefSeq Protein NP_001288 (Hs), NP_113997 (Rn)
UniProtKB Q14028 (Hs)
Wikipedia CNGB1 (Hs)
Associated Proteins Click here for help
Heteromeric Pore-forming Subunits
Name References
Not determined
Auxiliary Subunits
Name References
Not determined
Other Associated Proteins
Name References
CNGA1 11,19
Sodium/potassium/calcium exchanger 1 5,22
Calmodulin 14
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 Click here for help
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 Click here for help
Not established.
Species:  None
Tissue: 
Response measured: 
References: 
Physiological Functions Click here for help
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 (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
CNGB1b is important for normal olfaction in mice.
Species:  Mouse
Tissue:  Olfactory epithelium.
References:  20
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 Click here for help Mouse data from MGI

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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 Click here for help
Disease:  Retinitis pigmentosa 45; RP45
Synonyms: Retinitis pigmentosa [Orphanet: ORPHA791] [Disease Ontology: DOID:10584]
Disease Ontology: DOID:10584
OMIM: 613767
Orphanet: ORPHA791
References:  4
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Missense Human R765C 26
Missense Human R916H 28
Missense Human N986I 27
Missense Human G993V 4
Splice site Human c.3444+1G>A Exon 32. This splice site mutation results in a frameshift and prematurely truncated protein. 6,18
Biologically Significant Variants Click here for help
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:  AF068572
Protein accession:  O55157
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:  AJ000496
Protein accession:  O35788
References:  8,29

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. 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 ONE, 5 (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. Nature, 362 (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 et al.. (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. Science, 323 (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. Neuron, 15 (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 et al.. (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 USA, 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 Int, 2013: 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. Neuron, 36 (5): 891-6. [PMID:12467592]

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