OPN1SW (opsin 1, short wave sensitive)

Gene

• Entrez ID: 611
• Gene name: Opsin 1, short wave sensitive
• Gene symbol: OPN1SW
• Synonyms (NCBI Gene): 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:0001750	Component	Photoreceptor outer segment	IBA
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	31380578, 31730232
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9089077
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	2937147
GO:0007186	Process	G protein-coupled receptor signaling pathway	IBA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	9089077
GO:0007602	Process	Phototransduction	IBA
GO:0007602	Process	Phototransduction	IEA
GO:0007602	Process	Phototransduction	TAS	9089077
GO:0008020	Function	G protein-coupled photoreceptor activity	IBA
GO:0009584	Process	Detection of visible light	IEA
GO:0009881	Function	Photoreceptor activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016038	Process	Absorption of visible light	IBA
GO:0038023	Function	Signaling receptor activity	TAS	2937147
GO:0042995	Component	Cell projection	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	30168605
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0071482	Process	Cellular response to light stimulus	IBA
GO:0071492	Process	Cellular response to UV-A	IDA	31380578
GO:0097381	Component	Photoreceptor disc membrane	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS
GO:0120199	Component	Cone photoreceptor outer segment	IEA

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

• Tissue specificity: TISSUE SPECIFICITY: The three color pigments are found in the cone photoreceptor cells (PubMed:2937147). Expressed throughout the epidermis and dermis, primarily in the stratum granulosum in the facial and abdominal skin (at protein level) (PubMed:3016860
• 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

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Blue color blindness	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	rs141305506, rs1799922, rs764582600, rs104894031, rs104894032, rs104894033	RCV005394962 RCV001788568 RCV003483859 RCV000000079 RCV000000080 RCV000000081
Cervical cancer	Likely benign; Benign	rs374687514, rs35893393	RCV005912786 RCV005908161
Cholangiocarcinoma	Benign	rs35893393	RCV005908163
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs35893393	RCV005908165
Clear cell carcinoma of kidney	Likely benign	rs187706553	RCV005926106
Hepatocellular carcinoma	Benign	rs35893393	RCV005908160
Lung cancer	Benign; Likely benign	rs140568559, rs1554370107, rs35893393	RCV005914453 RCV005926295 RCV005908164
Malignant tumor of esophagus	Likely benign	rs187706553	RCV005926105
Melanoma	Benign	rs35893393	RCV005908162
OPN1SW-related disorder	Likely benign; Benign	rs566440181, rs367950991, rs150585695, rs141770175, rs140568559, rs78532499, rs143817931, rs1799922, rs199617151	RCV003946040 RCV003900445 RCV003963282 RCV004757457 RCV003931096 RCV003940965 RCV004757460 RCV003983949 RCV003980516
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs140568559, rs187706553	RCV005914452 RCV005926107

Associations from Text Mining
Disease Name	Relationship Type	References
Acute On Chronic Liver Failure	Associate	20848146
Adrenoleukodystrophy	Associate	21914224
Carcinoma Hepatocellular	Associate	1602534, 21933446, 22720023, 24344773, 31033235
Chemical and Drug Induced Liver Injury	Associate	20848146
Coinfection	Associate	20655563
Color Vision Defects	Associate	23022137, 31944634, 32400513
Hepatitis B Chronic	Associate	26571502, 26577140
Hepatitis Viral Human	Associate	28376292
Infections	Associate	20655563
Liver Cirrhosis	Associate	22720023, 26577140, 28376292
Liver Diseases	Associate	22720023
Liver Failure	Associate	28376292
Neoplasms	Associate	36143845
Retinitis Pigmentosa	Associate	31944634
Ulcer	Associate	36143845