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Tbio 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]

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Property Summary

NCBI Gene PubMed Count 21
Grant Count 10
R01 Count 6
Funding $1,109,610.7
PubMed Score 67.53
PubTator Score 39.40

Knowledge Summary

Patent (1,400)

TINX Plot

  Disease Relevance (10)

Disease Z-score Confidence
Retinitis pigmentosa 153 5.315 2.7
Night Blindness 39 3.789 1.9
RETINITIS PIGMENTOSA 49 1
active Crohn's disease 918
cutaneous lupus erythematosus 1,056
interstitial cystitis 2,299
pituitary cancer 1,972
psoriasis 6,683
spina bifida 1,064
ulcerative colitis 2,085

Expression

  Differential Expression (7)

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

Synonym

Accession P29973 A8K7K6 J3KPZ2 Q16279 Q16485 Q4W5E3
Symbols CNCG
CNG1
RP49
CNCG1
CNG-1
RCNC1
RCNCa
RCNCalpha

Gene

CNGA1

PANTHER Protein Class (4)

 Grant Application (10)

 GO Function (4)

 GO Component (3)

 GO Process (5)

 Compartment GO Term (15)

 OMIM Term (1)

Pathway (10)

 UniProt Keyword (20)

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Protein-protein Interaction (8)

SLC24A1   GNAT1   PDE6A   PDE6G   PDE6B   GUCY2F   GUCY2D   CNGB1  

Gene RIF (9)

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.

AA Sequence 

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
//

Publication (22)

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.
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