OPN1SW (opsin 1, short wave sensitive)

Gene

• Entrez ID: 611
• Gene name: Opsin 1, short wave sensitive
• Gene symbol: OPN1SW
• Synonyms: BCP, BOP, CBT
• Chromosome: 7
• Chromosome location: 7q32.1
• Summary: This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894031	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894032	A>C,G	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017141	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	TAS
GO:0001750	Component	Photoreceptor outer segment	IBA	21873635
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IDA	31380578, 31730232
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007165	Process	Signal transduction	TAS	2937147
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007601	Process	Visual perception	IEA
GO:0007602	Process	Phototransduction	IBA	21873635
GO:0008020	Function	G protein-coupled photoreceptor activity	IBA	21873635
GO:0009584	Process	Detection of visible light	IEA
GO:0018298	Process	Protein-chromophore linkage	IEA
GO:0038023	Function	Signaling receptor activity	TAS	2937147
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	30168605
GO:0071482	Process	Cellular response to light stimulus	IBA	21873635
GO:0071492	Process	Cellular response to UV-A	IDA	31380578
GO:0097381	Component	Photoreceptor disc membrane	TAS

Other IDs

• MIM: 613522
• HGNC: 1012
• e!Ensembl: ENSG00000128617

Protein

• UniProt ID: P03999
• Protein name: Short-wave-sensitive opsin 1 (Blue cone photoreceptor pigment) (Blue-sensitive opsin) (BOP)
• Protein 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	51 → 303	7 transmembrane receptor (rhodopsin family)	Family

• Sequence:

  MRKMSEEEFYLFKNISSVGPWDGPQYHIAPVWAFYLQAAFMGTVFLIGFPLNAMVLVATL
  RYKKLRQPLNYILVNVSFGGFLLCIFSVFPVFVASCNGYFVFGRHVCALEGFLGTVAGLV
  TGWSLAFLAFERYIVICKPFGNFRFSSKHALTVVLATWTIGIGVSIPPFFGWSRFIPEGL
  QCSCGPDWYTVGTKYRSESYTWFLFIFCFIVPLSLICFSYTQLLRALKAVAAQQQESATT
  QKAEREVSRMVVVMVGSFCVCYVPYAAFAMYMVNNRNHGLDLRLVTIPSFFSKSACIYNP
  IIYCFMNKQFQACIMKMVCGKAMTDESDTCSSQKTEVSTVSSTQVGPN

• Sequence length: 348

Pathways

Reactome:

The retinoid cycle in cones (daylight vision)
Retinoid cycle disease events
G alpha (i) signalling events
Opsins

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	29892015

Unknown
Disease name	Disease term	dbSNP ID	References
Color blindness	Color Blindness, Blue		1531728, 1386496, 23022137
Dyschromatopsia	Dyschromatopsia
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	rs199865688, rs397515994, rs757096307	29892015
Tritanopia	Tritanopia