OPN1SW
entrez
611
canonical
uniprot
P03999
canonical
ensembl
ENSG00000128617
resolver
ensp
ENSP00000249389
resolver
enst
ENST00000249389
resolver
genesymbol
OPN1SW
resolver
genesymbol_syn
BCP
resolver
hgnc
HGNC:1012
resolver
uniprot
Q13877
resolver
uniprot_entry
OPSB_HUMAN
resolver
uniprot_sec
Q13877
resolver
amino_acid_sequence
MSEEEFYLFKNISSVGPWDGPQYHIAPVWAFYLQAAFMGTVFLIGFPLNAMVLVATLRYKKLRQPLNYILVNVSFGGFLLCIFSVFPVFVASCNGYFVFGRHVCALEGFLGTVAGLVTGWSLAFLAFERYIVICKPFGNFRFSSKHALTVVLATWTIGIGVSIPPFFGWSRFIPEGLQCSCGPDWYTVGTKYRSESYTWFLFIFCFIVPLSLICFSYTQLLRALKAVAAQQQESATTQKAEREVSRMVVVMVGSFCVCYVPYAAFAMYMVNNRNHGLDLRLVTIPSFFSKSACIYNPIIYCFMNKQFQACIMKMVCGKAMTDESDTCSSQKTEVSTVSSTQVGPN
uniprot
proteins
disease_involvement
DISEASE: Tritan color blindness (CBT) [MIM:190900]: A disorder of vision characterized by a selective deficiency of blue spectral sensitivity. {ECO:0000269|PubMed:1386496, ECO:0000269|PubMed:1531728, ECO:0000269|PubMed:23022137}. 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 short-wavelength (blue-violet) 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). Required for the maintenance of cone outer segment organization in the ventral retina, but not essential for the maintenance of cone photoreceptor function (By similarity). Involved in ensuring the correct abundance and localization of retinal membrane proteins (By similarity). Mediates visual perception of blue light (PubMed:1386496, PubMed:1531728, PubMed:23022137). May contribute to increased spectral sensitivity under dim light conditions (By similarity). Is not UV-sensitive (By similarity). {ECO:0000250|UniProtKB:D5H3X0, ECO:0000250|UniProtKB:P04000, ECO:0000250|UniProtKB:P51491, ECO:0000269|PubMed:1386496, ECO:0000269|PubMed:1531728, ECO:0000269|PubMed:23022137, ECO:0000269|PubMed:2937147, ECO:0000269|PubMed:6140680}.
uniprot
proteins
mass_dalton
38719
uniprot
proteins
mutagenesis
MUTAGEN 107; /note="E->Q: Constitutively active."; /evidence="ECO:0000269|Ref.10
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.10}.; 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
1386496
uniprot
proteins
pubmed
1531728
uniprot
proteins
pubmed
23022137
uniprot
proteins
pubmed
2565599
uniprot
proteins
pubmed
2937147
uniprot
proteins
pubmed
30168605
uniprot
proteins
pubmed
31380578
uniprot
proteins
pubmed
31730232
uniprot
proteins
pubmed
3303660
uniprot
proteins
pubmed
6140680
uniprot
proteins
pubmed
9089077
uniprot
proteins
sequence_length
345
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:2937147, ECO:0000269|PubMed:31380578}; Multi-pass membrane protein {ECO:0000255}. Photoreceptor outer segment membrane {ECO:0000250|UniProtKB:P51491}; Multi-pass membrane protein {ECO:0000255}. Photoreceptor inner segment {ECO:0000250|UniProtKB:P51491}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:30168605}.
uniprot
proteins
transmembrane_region
TRANSMEM 31..55; /note="Helical; Name=1"; /evidence="ECO:0000255"; TRANSMEM 68..93; /note="Helical; Name=2"; /evidence="ECO:0000255"; TRANSMEM 108..127; /note="Helical; Name=3"; /evidence="ECO:0000255"; TRANSMEM 147..170; /note="Helical; Name=4"; /evidence="ECO:0000255"; TRANSMEM 197..224; /note="Helical; Name=5"; /evidence="ECO:0000255"; TRANSMEM 247..270; /note="Helical; Name=6"; /evidence="ECO:0000255"; TRANSMEM 279..303; /note="Helical; Name=7"; /evidence="ECO:0000255
uniprot
proteins