Property Summary

NCBI Gene PubMed Count 21
PubMed Score 67.53
PubTator Score 39.40

Knowledge Summary

Patent (1,400)

TINX Plot

  Disease (4)

Disease Target Count
Retinitis pigmentosa 49 1
Disease Target Count Z-score Confidence
Night Blindness 39 3.789 1.9
Disease Target Count
Retinitis pigmentosa 156

Expression

  Differential Expression (7)

Disease log2 FC p
cutaneous lupus erythematosus -2.000 3.5e-04
psoriasis -1.700 2.2e-101
active Crohn's disease -1.075 6.4e-03
interstitial cystitis -2.200 1.7e-04
spina bifida -1.974 3.9e-02
ulcerative colitis -1.400 4.1e-06
pituitary cancer 2.300 3.2e-05

Protein-protein Interaction (8)

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
//

Text Mined References (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.
12693957 2003 Assembly of retinal rod or cone Na(+)/Ca(2+)-K(+) exchanger oligomers with cGMP-gated channel subunits as probed with heterologously expressed cDNAs.
12467592 2002 Rod cyclic nucleotide-gated channels have a stoichiometry of three CNGA1 subunits and one CNGB1 subunit.
12432397 2002 The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry.
12388767 2002 An endogenous RNA transcript antisense to CNG(alpha)1 cation channel mRNA.
12362048 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.
8889549 1996 Generation and analysis of 280,000 human expressed sequence tags.
7683629 1993 Human rod cGMP-gated cation channel gene maps to 4p12-->centromere by chromosomal in situ hybridization.
7532814 1994 Expression of cyclic nucleotide-gated cation channels in non-sensory tissues and cells.
7479749 1995 Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.
1379636 1992 Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression.
1372959 1992 Identification and characterization of a partial cDNA expressing interleukin-1-like activity in keratinocytes.
1372902 1992 Primary structure and chromosomal localization of human and mouse rod photoreceptor cGMP-gated cation channel.