UniProt functional annotation for Q16281



	UniProt functional annotation for Q16281

UniProt code: Q16281.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: 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 cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of the channel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. {ECO:0000250, ECO:0000269|PubMed:10888875}.

Subunit: Tetramer formed of three CNGA3 and one CNGB3 modulatory subunits. {ECO:0000269|PubMed:10888875, ECO:0000269|PubMed:15134637, ECO:0000269|PubMed:21878911}.

Subcellular location: Membrane; Multi-pass membrane protein.

Tissue specificity: Prominently expressed in retina.

Domain: The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits.

Disease: Achromatopsia 2 (ACHM2) [MIM:216900]: An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. {ECO:0000269|PubMed:11536077, ECO:0000269|PubMed:14757870, ECO:0000269|PubMed:15712225, ECO:0000269|PubMed:15743887, ECO:0000269|PubMed:18521937, ECO:0000269|PubMed:24903488, ECO:0000269|PubMed:26493561, ECO:0000269|PubMed:9662398}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA3 subfamily. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		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 cone photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficacy of the channel when coexpressed with CNGB3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones. {ECO:0000250, ECO:0000269\|PubMed:10888875}.


Subunit:		Tetramer formed of three CNGA3 and one CNGB3 modulatory subunits. {ECO:0000269\|PubMed:10888875, ECO:0000269\|PubMed:15134637, ECO:0000269\|PubMed:21878911}.
Subcellular location:		Membrane; Multi-pass membrane protein.
Tissue specificity:		Prominently expressed in retina.
Domain:		The C-terminal coiled-coil domain mediates homotrimerization of CNGA subunits.
Disease:		Achromatopsia 2 (ACHM2) [MIM:216900]: An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. {ECO:0000269\|PubMed:11536077, ECO:0000269\|PubMed:14757870, ECO:0000269\|PubMed:15712225, ECO:0000269\|PubMed:15743887, ECO:0000269\|PubMed:18521937, ECO:0000269\|PubMed:24903488, ECO:0000269\|PubMed:26493561, ECO:0000269\|PubMed:9662398}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the cyclic nucleotide-gated cation channel (TC 1.A.1.5) family. CNGA3 subfamily. {ECO:0000305}.