ID  P03999;
PN  Short-wave-sensitive opsin 1;
GN  OPN1SW;
OS  9606;
SL  Nucleus Position: SL-0198;
SL  Comments: Cell membrane {ECO:0000269|PubMed:2937147, ECO:0000269|PubMed:31380578, ECO:0000269|PubMed:31730232}; Multi-pass membrane protein {ECO:0000255}. Photoreceptor inner segment {ECO:0000250|UniProtKB:P51491}. Cell projection, cilium, photoreceptor outer segment {ECO:0000250|UniProtKB:P51491}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:30168605}.
DR  UNIPROT: P03999;
DR  UNIPROT: Q13877;
DR  Pfam: PF00001;
DR  PROSITE: PS00237;
DR  PROSITE: PS50262;
DR  PROSITE: PS00238;
DR  OMIM: 190900;
DR  OMIM: 613522;
DR  DisGeNET: 611;
DE  Function: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal (Probable). Required for the maintenance of cone outer segment organization in the ventral retina, but not essential for the maintenance of functioning cone photoreceptors (By similarity). Involved in ensuring correct abundance and localization of retinal membrane proteins (By similarity). May increase spectral sensitivity in dim light (By similarity). {ECO:0000250|UniProtKB:P51491, ECO:0000305|PubMed:2937147}.
DE  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.
DE  Reference Proteome: Yes;
DE  Interaction: Q9GZY8; IntAct: EBI-24523945; Score: 0.56
GO  GO:0120199;
GO  GO:0005887;
GO  GO:0048471;
GO  GO:0097381;
GO  GO:0001917;
GO  GO:0001750;
GO  GO:0005886;
GO  GO:0008020;
GO  GO:0038023;
GO  GO:0071482;
GO  GO:0071492;
GO  GO:0007186;
GO  GO:0007602;
GO  GO:0007165;
GO  GO:0007601;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MRKMSEEEFYLFKNISSVGPWDGPQYHIAPVWAFYLQAAFMGTVFLIGFPLNAMVLVATLRYKKLRQPLNYILVNVSFGG
SQ  FLLCIFSVFPVFVASCNGYFVFGRHVCALEGFLGTVAGLVTGWSLAFLAFERYIVICKPFGNFRFSSKHALTVVLATWTI
SQ  GIGVSIPPFFGWSRFIPEGLQCSCGPDWYTVGTKYRSESYTWFLFIFCFIVPLSLICFSYTQLLRALKAVAAQQQESATT
SQ  QKAEREVSRMVVVMVGSFCVCYVPYAAFAMYMVNNRNHGLDLRLVTIPSFFSKSACIYNPIIYCFMNKQFQACIMKMVCG
SQ  KAMTDESDTCSSQKTEVSTVSSTQVGPN
//