| Tchem | cGMP-gated cation channel alpha-1 |
Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors.
The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Comments
Property Summary
| NCBI Gene PubMed Count | 21 |
| Grant Count | 10 |
| R01 Count | 6 |
| Funding | $1,171,584.28 |
| PubMed Score | 67.53 |
| PubTator Score | 39.40 |
| Disease | log2 FC | p |
|---|---|---|
| cutaneous lupus erythematosus | -2.000 | 0.000 |
| psoriasis | -1.700 | 0.000 |
| active Crohn's disease | -1.075 | 0.006 |
| interstitial cystitis | -2.200 | 0.000 |
| spina bifida | -1.974 | 0.039 |
| ulcerative colitis | -1.400 | 0.000 |
| pituitary cancer | 2.300 | 0.000 |
| PMID | Text |
|---|---|
| 26802146 | The mut CNGA1 p.(G513R) protein was largely retained inside the cell rather than being targeted to the plasma membrane, suggesting the absence of cGMP-gated cation channels in the plasma membrane |
| 25268133 | CNGA1 mutations are one of the most frequent autosomal recessive retinitis pigmentosa-causing mutations in the Japanese patients. |
| 23032687 | Insulin receptor (IR), an integral membrane protein, directly phosphorylates the CNGA1 subunit of CNG channels that in turn affects the function of these channels negatively. CNGA1 is a direct substrate of IR. |
| 20801516 | Observational study of genetic testing. (HuGE Navigator) |
| 15713832 | Expressed in a stage- and cell-specific manner in the rat testis. |
| 15570217 | The autosomal recessive retinitis pigmentosa in this family is caused by a mutation in CNGA1 gene. |
| 12432397 | The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry |
| 12388767 | isolated an endogenous transcript (anti-CNG1) that is antisense to CNG1 mRNA; data suggest the suppression of CNG(alpha)1 expression by anti-CNG1 may play an important role in neuronal functions, especially in synaptic plasticity and cortical development |
| 12362048 | Novel homozygous mutation R28X truncates CNGA1 very prematurely in patients with autosomal recessive retinitis pigmentosa. |
MKLSMKNNIINTQQSFVTMPNVIVPDIEKEIRRMENGACSSFSEDDDSASTSEESENENPHARGSFSYKS 1 - 70 LRKGGPSQREQYLPGAIALFNVNNSSNKDQEPEEKKKKKKEKKSKSDDKNENKNDPEKKKKKKDKEKKKK 71 - 140 EEKSKDKKEEEKKEVVVIDPSGNTYYNWLFCITLPVMYNWTMVIARACFDELQSDYLEYWLILDYVSDIV 141 - 210 YLIDMFVRTRTGYLEQGLLVKEELKLINKYKSNLQFKLDVLSLIPTDLLYFKLGWNYPEIRLNRLLRFSR 211 - 280 MFEFFQRTETRTNYPNIFRISNLVMYIVIIIHWNACVFYSISKAIGFGNDTWVYPDINDPEFGRLARKYV 281 - 350 YSLYWSTLTLTTIGETPPPVRDSEYVFVVVDFLIGVLIFATIVGNIGSMISNMNAARAEFQARIDAIKQY 351 - 420 MHFRNVSKDMEKRVIKWFDYLWTNKKTVDEKEVLKYLPDKLRAEIAINVHLDTLKKVRIFADCEAGLLVE 421 - 490 LVLKLQPQVYSPGDYICKKGDIGREMYIIKEGKLAVVADDGVTQFVVLSDGSYFGEISILNIKGSKAGNR 491 - 560 RTANIKSIGYSDLFCLSKDDLMEALTEYPDAKTMLEEKGKQILMKDGLLDLNIANAGSDPKDLEEKVTRM 561 - 630 EGSVDLLQTRFARILAEYESMQQKLKQRLTKVEKFLKPLIDTEFSSIEGPGAESGPIDST 631 - 690 //
| PMID | Year | Title |
|---|---|---|
| 26802146 | 2016 | Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family. |
| 25268133 | 2014 | Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa. |
| 23032687 | 2012 | Insulin receptor regulates photoreceptor CNG channel activity. |
| 20890309 | 2010 | Growth factor receptor-bound protein 14: a new modulator of photoreceptor-specific cyclic-nucleotide-gated channel. |
| 20801516 | 2011 | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. |
| 16382102 | 2005 | International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels. |
| 15815621 | 2005 | Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |
| 15713832 | 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. | |
| 15570217 | 2004 | Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation. |
| 14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. |
| More... |
