OPN1LW
entrez
5956
canonical
uniprot
P04000
canonical
ensembl
ENSG00000102076
resolver
ensp
ENSP00000358967
resolver
enst
ENST00000369951
resolver
genesymbol
OPN1LW
resolver
genesymbol_syn
RCP
resolver
hgnc
HGNC:9936
resolver
uniprot_entry
OPSR_HUMAN
resolver
amino_acid_sequence
MAQQWSLQRLAGRHPQDSYEDSTQSSIFTYTNSNSTRGPFEGPNYHIAPRWVYHLTSVWMIFVVTASVFTNGLVLAATMKFKKLRHPLNWILVNLAVADLAETVIASTISIVNQVSGYFVLGHPMCVLEGYTVSLCGITGLWSLAIISWERWMVVCKPFGNVRFDAKLAIVGIAFSWIWAAVWTAPPIFGWSRYWPHGLKTSCGPDVFSGSSYPGVQSYMIVLMVTCCIIPLAIIMLCYLQVWLAIRAVAKQQKESESTQKAEKEVTRMVVVMIFAYCVCWGPYTFFACFAAANPGYAFHPLMAALPAYFAKSATIYNPVIYVFMNRQFRNCILQLFGKKVDDGSELSSASKTEVSSVSSVSPA
uniprot
proteins
disease_involvement
DISEASE: Colorblindness, partial, protan series (CBP) [MIM:303900]: An X-linked color vision defect characterized by a dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves toward the short wave end 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}. 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:8213841, ECO:0000269|PubMed:8666378}. 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 long-wavelength (red) light (PubMed:21314100, 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 (PubMed:21314100, PubMed:2937147, PubMed:6140680). 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 (PubMed:21314100, PubMed:2937147, PubMed:6140680). Mediates visual perception of red light in cone photoreceptor cells (PubMed:12051694, PubMed:8213841, PubMed:8666378). {ECO:0000269|PubMed:12051694, ECO:0000269|PubMed:21314100, ECO:0000269|PubMed:2937147, ECO:0000269|PubMed:6140680, ECO:0000269|PubMed:8213841, ECO:0000269|PubMed:8666378}.
uniprot
proteins
mass_dalton
40574
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: Phosphorylated on some or all of the serine and threonine residues present in the C-terminal region.
uniprot
proteins
protein_family
G protein-coupled receptor 1 family
uniprot
proteins
protein_family
Opsin subfamily
uniprot
proteins
pubmed
12051694
uniprot
proteins
pubmed
1557123
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
21314100
uniprot
proteins
pubmed
2937147
uniprot
proteins
pubmed
3303660
uniprot
proteins
pubmed
6140680
uniprot
proteins
pubmed
8213841
uniprot
proteins
pubmed
8666378
uniprot
proteins
sequence_length
364
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein {ECO:0000255}. Photoreceptor outer segment membrane {ECO:0000250|UniProtKB:Q9W6A7}; 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