Cyclic nucleotide-gated channel alpha 1
| Cyclic nucleotide gated channel alpha 1 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | CNGA1; CNCG; CNCG1; CNG-1; CNG1; RCNC1; RCNCa; RCNCalpha; RP49 | ||||||||||||
| External IDs | OMIM: 123825 MGI: 88436 HomoloGene: 55432 IUPHAR: CNGA1 ChEMBL: 1628476 GeneCards: CNGA1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 1259 | 12788 | |||||||||||
| Ensembl | ENSG00000198515 | ENSMUSG00000067220 | |||||||||||
| UniProt | P29973 | P29974 | |||||||||||
| RefSeq (mRNA) | NM_000087 | NM_007723 | |||||||||||
| RefSeq (protein) | NP_000078 | NP_031749 | |||||||||||
| Location (UCSC) | Chr 4: 47.94 – 48.02 Mb |
Chr 5: 72.6 – 72.64 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Cyclic nucleotide-gated channel alpha 1, also known as CNGA1, is a human gene encoding an ion channel protein.[1]
Further reading
- 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.
- Pittler SJ, Lee AK, Altherr MR, et al. (1992). "Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel.". J. Biol. Chem. 267 (9): 6257–62. PMID 1372902.
- Arsenault TV, Sauder DN, Harley CB, McKenzie RC (1992). "Identification and characterization of a partial cDNA expressing interleukin-1-like activity in keratinocytes.". Mol. Immunol. 29 (3): 431–8. doi:10.1016/0161-5890(92)90031-R. PMID 1372959.
- Dhallan RS, Macke JP, Eddy RL, et al. (1992). "Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression.". J. Neurosci. 12 (8): 3248–56. PMID 1379636.
- Dryja TP, Finn JT, Peng YW, et al. (1995). "Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.". Proc. Natl. Acad. Sci. U.S.A. 92 (22): 10177–81. doi:10.1073/pnas.92.22.10177. PMC 40759. PMID 7479749.
- Distler M, Biel M, Flockerzi V, Hofmann F (1995). "Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells.". Neuropharmacology 33 (11): 1275–82. doi:10.1016/0028-3908(94)90027-2. PMID 7532814.
- Griffin CA, Ding CL, Jabs EW, et al. (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, et al. (1997). "Generation and analysis of 280,000 human expressed sequence tags.". Genome Res. 6 (9): 807–28. doi:10.1101/gr.6.9.807. PMID 8889549.
- Paloma E, Martínez-Mir A, García-Sandoval B, et al. (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.". J. Med. Genet. 39 (10): E66. doi:10.1136/jmg.39.10.e66. PMC 1734976. PMID 12362048.
- Cheng CH, Yew DT, Kwan HY, et al. (2003). "An endogenous RNA transcript antisense to CNG(alpha)1 cation channel mRNA.". Mol. Biol. Cell 13 (10): 3696–705. doi:10.1091/mbc.E02-03-0127. PMC 129976. PMID 12388767.
- 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. doi:10.1038/nature01201. PMC 2877395. PMID 12432397.
- Zheng J, Trudeau MC, Zagotta WN (2003). "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.
- Kang K, Bauer PJ, Kinjo TG, et al. (2003). "Assembly of retinal rod or cone Na(+)/Ca(2+)-K(+) exchanger oligomers with cGMP-gated channel subunits as probed with heterologously expressed cDNAs.". Biochemistry 42 (15): 4593–600. doi:10.1021/bi027276z. PMID 12693957.
- Zhang Q, Zulfiqar F, Riazuddin SA, et al. (2005). "Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.". Mol. Vis. 10: 884–9. PMID 15570217.
- Shi F, Perez E, Wang T, et al. (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.". J. Androl. 26 (2): 258–63. PMID 15713832.
External links
- GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
- CNGA1 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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