UniProt functional annotation for Q9NQW8



	UniProt functional annotation for Q9NQW8

UniProt code: Q9NQW8.

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 cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod 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 efficiency of the channel when coexpressed with CNGA3 (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:21878911}.

Subcellular location: Membrane; Multi-pass membrane protein.

Tissue specificity: Expressed specifically in the retina. {ECO:0000269|PubMed:10958649}.

Disease: Stargardt disease 1 (STGD1) [MIM:248200]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. {ECO:0000269|PubMed:15712225}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Achromatopsia 3 (ACHM3) [MIM:262300]: 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. Achromatopsia type 3 patients manifest severe myopia. {ECO:0000269|PubMed:10888875, ECO:0000269|PubMed:10958649, ECO:0000269|PubMed:12357335, ECO:0000269|PubMed:14757870, ECO:0000269|PubMed:15657609, ECO:0000269|PubMed:15712225}. 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. CNGB3 subfamily. {ECO:0000305}.

Sequence caution: Sequence=AAF80179.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={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 cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod 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 efficiency of the channel when coexpressed with CNGA3 (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:21878911}.
Subcellular location:		Membrane; Multi-pass membrane protein.
Tissue specificity:		Expressed specifically in the retina. {ECO:0000269\|PubMed:10958649}.
Disease:		Stargardt disease 1 (STGD1) [MIM:248200]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. {ECO:0000269\|PubMed:15712225}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Achromatopsia 3 (ACHM3) [MIM:262300]: 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. Achromatopsia type 3 patients manifest severe myopia. {ECO:0000269\|PubMed:10888875, ECO:0000269\|PubMed:10958649, ECO:0000269\|PubMed:12357335, ECO:0000269\|PubMed:14757870, ECO:0000269\|PubMed:15657609, ECO:0000269\|PubMed:15712225}. 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. CNGB3 subfamily. {ECO:0000305}.
Sequence caution:		Sequence=AAF80179.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};