UniProt functional annotation for P04001



	UniProt functional annotation for P04001

UniProt code: P04001.

Organism: Homo sapiens (Human).

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

Function: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal. {ECO:0000305|PubMed:12051694, ECO:0000305|PubMed:1302020, ECO:0000305|PubMed:2937147}.

Biophysicochemical properties: Absorption: Abs(max)=530 nm {ECO:0000305|PubMed:2937147};

Subunit: Monomer. Homodimer. Homotetramer. {ECO:0000269|PubMed:28402104}.

Subcellular location: Cell membrane {ECO:0000269|PubMed:20579627}; Multi-pass membrane protein {ECO:0000255}.

Tissue specificity: The three color pigments are found in the cone photoreceptor cells. {ECO:0000305|PubMed:2937147}.

Ptm: N-glycosylated (PubMed:30948514). O-glycosylated (PubMed:30948514). {ECO:0000269|PubMed:30948514}.

Ptm: Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region. {ECO:0000305|PubMed:2937147}.

Disease: Colorblindness, partial, deutan series (CBD) [MIM:303800]: A color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia. {ECO:0000269|PubMed:12051694, ECO:0000269|PubMed:1302020}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Blue cone monochromacy (BCM) [MIM:303700]: A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength- sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia. {ECO:0000269|PubMed:8666378}. Note=The disease is caused by variants affecting the gene represented in this entry.

Disease: Cone dystrophy 5 (COD5) [MIM:303700]: An X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. {ECO:0000269|PubMed:20579627}. Note=The disease is caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. {ECO:0000255|PROSITE-ProRule:PRU00521}.

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 pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal. {ECO:0000305\|PubMed:12051694, ECO:0000305\|PubMed:1302020, ECO:0000305\|PubMed:2937147}.


Biophysicochemical properties:		Absorption: Abs(max)=530 nm {ECO:0000305\|PubMed:2937147};
Subunit:		Monomer. Homodimer. Homotetramer. {ECO:0000269\|PubMed:28402104}.
Subcellular location:		Cell membrane {ECO:0000269\|PubMed:20579627}; Multi-pass membrane protein {ECO:0000255}.
Tissue specificity:		The three color pigments are found in the cone photoreceptor cells. {ECO:0000305\|PubMed:2937147}.
Ptm:		N-glycosylated (PubMed:30948514). O-glycosylated (PubMed:30948514). {ECO:0000269\|PubMed:30948514}.
Ptm:		Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region. {ECO:0000305\|PubMed:2937147}.
Disease:		Colorblindness, partial, deutan series (CBD) [MIM:303800]: A color vision defect characterized by a dichromasy in which red and green are confused, without loss of luminance or shift or shortening of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia. {ECO:0000269\|PubMed:12051694, ECO:0000269\|PubMed:1302020}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Blue cone monochromacy (BCM) [MIM:303700]: A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength- sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia. {ECO:0000269\|PubMed:8666378}. Note=The disease is caused by variants affecting the gene represented in this entry.
Disease:		Cone dystrophy 5 (COD5) [MIM:303700]: An X-linked cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. {ECO:0000269\|PubMed:20579627}. Note=The disease is caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the G-protein coupled receptor 1 family. Opsin subfamily. {ECO:0000255\|PROSITE-ProRule:PRU00521}.