Cyclic nucleotide-gated channel alpha 1

Cyclic nucleotide-gated channel alpha 1, also known as CNGA1, is a human gene encoding an ion channel protein. Heterologously expressed CNGA1 can form a functional channel that is permeable to calcium. In rod photoreceptors, however, CNGA1 forms a heterotetramer with CNGB1 in a 3:1 ratio. The addition of the CNGB1 channel imparts altered properties including more rapid channel kinetics and greater cAMP-activated current. When light hits rod photoreceptors, cGMP concentrations decrease causing rapid closure of CNGA1/B1 channels and, therefore, hyperpolarization of the membrane potential.

CNGA1
Identifiers
Aliases	CNGA1, CNCG, CNCG1, CNG-1, CNG1, RCNC1, RCNCa, RCNCalpha, RP49, Cyclic nucleotide-gated channel alpha 1, cyclic nucleotide gated channel alpha 1, cyclic nucleotide gated channel subunit alpha 1
External IDs	OMIM: 123825; MGI: 88436; HomoloGene: 55432; GeneCards: CNGA1; OMA:CNGA1 - orthologs
Gene location (Human) Chr. Chromosome 4 (human) Band 4p12 Start 47,935,977 bp End 48,016,681 bp
Gene location (Mouse) Chr. Chromosome 5 (mouse) Band 5 C3.2|5 38.44 cM Start 72,761,039 bp End 72,801,618 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in amniotic fluid right lobe of liver sural nerve pancreatic epithelial cell testicle pancreatic ductal cell mucosa of urinary bladder skin of abdomen skin of hip corpus epididymis Top expressed in neural layer of retina retinal pigment epithelium epithelium of lens ciliary body iris thymus corneal stroma zygote conjunctival fornix secondary oocyte More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding intracellular cyclic nucleotide activated cation channel activity ion channel activity protein binding voltage-gated potassium channel activity cGMP binding intracellular cAMP-activated cation channel activity intracellular cGMP-activated cation channel activity Cellular component integral component of membrane membrane plasma membrane photoreceptor outer segment integral component of plasma membrane photoreceptor outer segment membrane Biological process response to stimulus regulation of rhodopsin mediated signaling pathway regulation of membrane potential ion transport cation transmembrane transport transmembrane transport visual perception rhodopsin mediated signaling pathway potassium ion transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1259 12788 Ensembl ENSG00000198515 ENSMUSG00000067220 UniProt P29973 P29974 RefSeq (mRNA) NM_000087 NM_001142564 NM_001379270 NM_007723 RefSeq (protein) NP_000078 NP_001136036 NP_001366199 NP_000078.2 NP_031749 Location (UCSC) Chr 4: 47.94 – 48.02 Mb Chr 5: 72.76 – 72.8 Mb PubMed search
Wikidata
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See also

• Cyclic nucleotide-gated ion channel

Further reading

• Hofmann F, Biel M, Kaupp UB (December 2005). "International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels". Pharmacological Reviews. 57 (4): 455–62. doi:10.1124/pr.57.4.8. PMID 16382102. S2CID 45853869.
• Pittler SJ, Lee AK, Altherr MR, Howard TA, Seldin MF, Hurwitz RL, Wasmuth JJ, Baehr W (March 1992). "Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel". The Journal of Biological Chemistry. 267 (9): 6257–62. doi:10.1016/S0021-9258(18)42689-0. PMID 1372902.
• Arsenault TV, Sauder DN, Harley CB, McKenzie RC (March 1992). "Identification and characterization of a partial cDNA expressing interleukin-1-like activity in keratinocytes". Molecular Immunology. 29 (3): 431–8. doi:10.1016/0161-5890(92)90031-R. PMID 1372959.
• Dhallan RS, Macke JP, Eddy RL, Shows TB, Reed RR, Yau KW, Nathans J (August 1992). "Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression". The Journal of Neuroscience. 12 (8): 3248–56. doi:10.1523/JNEUROSCI.12-08-03248.1992. PMC 6575660. PMID 1379636.
• Dryja TP, Finn JT, Peng YW, McGee TL, Berson EL, Yau KW (October 1995). "Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa". Proceedings of the National Academy of Sciences of the United States of America. 92 (22): 10177–81. Bibcode:1995PNAS...9210177D. doi:10.1073/pnas.92.22.10177. PMC 40759. PMID 7479749.
• Distler M, Biel M, Flockerzi V, Hofmann F (November 1994). "Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells" (PDF). Neuropharmacology. 33 (11): 1275–82. doi:10.1016/0028-3908(94)90027-2. PMID 7532814. S2CID 35784152.
• Griffin CA, Ding CL, Jabs EW, Hawkins AL, Li X, Levine MA (April 1993). "Human rod cGMP-gated cation channel gene maps to 4p12-->centromere by chromosomal in situ hybridization". Genomics. 16 (1): 302–3. doi:10.1006/geno.1993.1187. PMID 7683629.
• Hillier LD, Lennon G, Becker M, Bonaldo MF, Chiapelli B, Chissoe S, Dietrich N, DuBuque T, Favello A, Gish W, Hawkins M, Hultman M, Kucaba T, Lacy M, Le M, Le N, Mardis E, Moore B, Morris M, Parsons J, Prange C, Rifkin L, Rohlfing T, Schellenberg K, Bento Soares M, Tan F, Thierry-Meg J, Trevaskis E, Underwood K, Wohldman P, Waterston R, Wilson R, Marra M (September 1996). "Generation and analysis of 280,000 human expressed sequence tags". Genome Research. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
• Paloma E, Martínez-Mir A, García-Sandoval B, Ayuso C, Vilageliu L, Gonzàlez-Duarte R, Balcells S (October 2002). "Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa". Journal of Medical Genetics. 39 (10): 66e–66. doi:10.1136/jmg.39.10.e66. PMC 1734976. PMID 12362048.
• Cheng CH, Yew DT, Kwan HY, Zhou Q, Huang Y, Liu Y, Chan WY, Yao X (October 2002). "An endogenous RNA transcript antisense to CNG(alpha)1 cation channel mRNA". Molecular Biology of the Cell. 13 (10): 3696–705. doi:10.1091/mbc.E02-03-0127. PMC 129976. PMID 12388767.
• Zhong H, Molday LL, Molday RS, Yau KW (November 2002). "The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry". Nature. 420 (6912): 193–8. Bibcode:2002Natur.420..193Z. doi:10.1038/nature01201. PMC 2877395. PMID 12432397.
• Zheng J, Trudeau MC, Zagotta WN (December 2002). "Rod cyclic nucleotide-gated channels have a stoichiometry of three CNGA1 subunits and one CNGB1 subunit". Neuron. 36 (5): 891–6. doi:10.1016/S0896-6273(02)01099-1. PMID 12467592. S2CID 15365006.
• Kang K, Bauer PJ, Kinjo TG, Szerencsei RT, Bönigk W, Winkfein RJ, Schnetkamp PP (April 2003). "Assembly of retinal rod or cone Na(+)/Ca(2+)-K(+) exchanger oligomers with cGMP-gated channel subunits as probed with heterologously expressed cDNAs" (PDF). Biochemistry. 42 (15): 4593–600. doi:10.1021/bi027276z. PMID 12693957.
• Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF (November 2004). "Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation". Molecular Vision. 10: 884–9. PMID 15570217.
• Shi F, Perez E, Wang T, Peitz B, Lapolt PS (2005). "Stage- and cell-specific expression of soluble guanylyl cyclase alpha and beta subunits, cGMP-dependent protein kinase I alpha and beta, and cyclic nucleotide-gated channel subunit 1 in the rat testis". Journal of Andrology. 26 (2): 258–63. doi:10.1002/j.1939-4640.2005.tb01093.x. PMID 15713832.

External links

• GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
• CNGA1+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.