P04001
uniprot
P04001
canonical
amino_acid_sequence
MAQQWSLQRLAGRHPQDSYEDSTQSSIFTYTNSNSTRGPFEGPNYHIAPRWVYHLTSVWMIFVVIASVFTNGLVLAATMKFKKLRHPLNWILVNLAVADLAETVIASTISVVNQVYGYFVLGHPMCVLEGYTVSLCGITGLWSLAIISWERWMVVCKPFGNVRFDAKLAIVGIAFSWIWAAVWTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQSYMIVLMVTCCITPLSIIVLCYLQVWLAIRAVAKQQKESESTQKAEKEVTRMVVVMVLAFCFCWGPYAFFACFAAANPGYPFHPLMAALPAFFAKSATIYNPVIYVFMNRQFRNCILQLFGKKVDDGSELSSASKTEVSSVSSVSPA
uniprot
proteins
disease_involvement
DISEASE: Colorblindness, partial, deutan series (CBD) [MIM:303800]: An X-linked 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.
uniprot
proteins
function
FUNCTION: G protein-coupled photoreceptor that selectively activates transducin G alpha protein (G(t)) in response to medium-wavelength (green) light, thereby stimulating the G(t)/transducin protein pathway (PubMed:2937147, PubMed:6140680). This activation leads to increased cGMP phosphodiesterase activity, resulting in decreased intracellular cGMP and subsequent closure of cGMP-gated ion channels (By similarity). The process is initiated when the opsin-bound cis-retinal chromophore absorbs a photon and isomerizes to all-trans-retinal, inducing a conformational change in the opsin that triggers the G protein-mediated phototransduction cascade (By similarity). Mediates visual perception of green light in cone photoreceptor cells (PubMed:12051694, PubMed:1302020, PubMed:8666378). {ECO:0000250|UniProtKB:P04000, ECO:0000269|PubMed:12051694, ECO:0000269|PubMed:1302020, ECO:0000269|PubMed:2937147, ECO:0000269|PubMed:6140680, ECO:0000269|PubMed:8666378}.
uniprot
proteins
mass_dalton
40584
uniprot
proteins
mutagenesis
MUTAGEN 129; /note="E->Q: Constitutively active."; /evidence="ECO:0000269|Ref.6
uniprot
proteins
post_translational_modification
PTM: Contains one retinal chromophore covalently bound to a lysine residue via a Schiff base. Upon light absorption, the bound 11-cis-retinal isomerizes to all-trans-retinal. Following activation, the covalently bound all-trans-retinal is released through hydrolysis of the Schiff base, and OPN1 is regenerated by binding a new 11-cis-retinal molecule. {ECO:0000269|Ref.6}.; 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}.
uniprot
proteins
protein_family
G protein-coupled receptor 1 family
uniprot
proteins
protein_family
Opsin subfamily
uniprot
proteins
pubmed
12051694
uniprot
proteins
pubmed
1302020
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
20579627
uniprot
proteins
pubmed
28402104
uniprot
proteins
pubmed
2937147
uniprot
proteins
pubmed
30948514
uniprot
proteins
pubmed
3303660
uniprot
proteins
pubmed
6140680
uniprot
proteins
pubmed
8666378
uniprot
proteins
sequence_length
364
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20579627}; Multi-pass membrane protein {ECO:0000255}. Photoreceptor outer segment membrane {ECO:0000250|UniProtKB:O35599}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 53..77; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 90..115; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 130..149; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 169..192; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 219..246; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 269..292; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 301..325; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins