Gene Ontology annotation through association of InterPro records with GO terms

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

GO_REF:0000033

Annotation inferences using phylogenetic trees

GO_REF:0000044

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

GO_REF:0000107

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

PMID:10958649

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

The inspected original study maps and identifies CNGB3 mutations in achromatopsia families, after excluding CNGA3 mutations or linkage; previously established CNGA3 function is discussed separately.

PMID:11536077

CNGA3 mutations in hereditary cone photoreceptor disorders.

Human mutation and clinical data link CNGA3 defects to complete or incomplete achromatopsia and some cone-dystrophy presentations.

PMID:12815043

Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels.

Human CNGA3 homomers and CNGA3/CNGB3 heteromers conduct cyclic-nucleotide-activated currents and reach the oocyte surface; CNGB3 mutations alter these properties.

PMID:15712225

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

The complete abstract reports CNGA3 mutations in 12 of 36 achromats, with variable color vision, acuity and residual cone ERG responses.

PMID:24164424

Cyclic nucleotide-gated channel subunit glycosylation regulates matrix metalloproteinase-dependent changes in channel gating.

Human CNGA3-containing channels show MMP-dependent gating changes and loss of conducting channels; N339 glycosylation changes susceptibility to processing.

PMID:32296183

A reference map of the human binary protein interactome.

Three exact positive IntAct records support CNGA3 association with MIS18A in HuRI two-hybrid assays.

PMID:37463923

Conformational trajectory of allosteric gating of the human cone photoreceptor cyclic nucleotide-gated channel.

Human CNGA3/CNGB3 structures resolve cGMP pockets and closed, intermediate and open conformations in a three-alpha/one-beta channel.

PMID:9517456

Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors.

The original abstract reports a 694-residue human CNGA3 clone, cGMP-activated Xenopus-oocyte currents and human retinal cone expression.

PMID:9662398

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

Segregating human CNGA3 missense mutations are reported in five families with complete achromatopsia and absent cone responses.

PMID:23329832

Cyclic nucleotide-gated channel α-3 (CNGA3) interacts with stereocilia tip-link cadherin 23 + exon 68 or alternatively with myosin VIIa, two proteins required for hair cell mechanotransduction.

Rat CNGA3 N-terminal fragments bind rat myosin VIIa tail and the exon-68-containing cadherin 23 fragment in controlled assays.

PMID:11387380

Electrophysiological characteristics of rat gustatory cyclic nucleotide--gated channel expressed in Xenopus oocytes.

Rat gustatory CNGA3 expressed in Xenopus oocytes is activated by cGMP or cAMP and its sodium current is blocked by magnesium from either membrane side.

PMID:9278419

Taste buds have a cyclic nucleotide-activated channel, CNGgust.

Rat tongue CNGgust cDNA produces cyclic-nucleotide-responsive currents in HEK cells and is reported at the taste-bud pore side.

PMID:10813773

Cloning and immunocytochemical localization of a cyclic nucleotide-gated channel alpha-subunit to all cone photoreceptors in the mouse retina.

Mouse Cnga3 antibody-controlled retinal EM localizes the channel to membrane folds forming cone discs.

PMID:34969976

Structure of the human cone photoreceptor cyclic nucleotide-gated channel.

Purified full-length human CNGA3/CNGB3 forms cGMP-responsive channels in liposomes and a structurally resolved three-alpha/one-beta heterotetramer.

PMID:18434027

Distribution of the A3 subunit of the cyclic nucleotide-gated ion channels in the main olfactory bulb of the rat.

The authentic abstract reports rat CNGA3 immunoreactivity in olfactory-bulb principal neurons, interneurons, ensheathing glia and immature radially oriented cells.

PMID:12021210

Localization of olfactory cyclic nucleotide-gated channels in rat gonadotropin-releasing hormone neurons.

The abstract reports historical olfactory CNG2, CNG4.3 and CNG5 signals in rat GnRH perikarya and median eminence.

PMID:21124780

Visual responses in mice lacking critical components of all known retinal phototransduction cascades.

Adult Gnat1/Cnga3/Opn4 triple-mutant mice retain atypical rod-dependent responses and altered cone-transducin localization.

PMID:21052544

Mouse model resources for vision research.

Original Table 1 lists the recessive cpfl5 Cnga3 model as cone-photoreceptor function loss among mouse vision resources.

file:human/CNGA3/CNGA3-source-evidence.json

CNGA3 source provenance and assay-scope index