Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	611
Gene name Gene Name - the full gene name approved by the HGNC.	Opsin 1, short wave sensitive
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	OPN1SW
Synonyms (NCBI Gene) Gene synonyms aliases	BCP, BOP, CBT
Disease Acronyms (UniProt) Disease acronyms from UniProt database	CBT
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q32.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(2)

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

Show/Hide all(1)

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

Show/Hide all(19)

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

MIM	HGNC	e!Ensembl
613522	1012	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

Interactions

View interactions

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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557 View all (6 more)	29892015

Show/Hide Unknown Diseases (4)

Disease term	Disease name	References	Source
Unknown
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	29892015	ClinVar
Color Blindness	blue color blindness		GenCC
Atrial Fibrillation	Atrial Fibrillation		GWAS
Hypertrophic cardiomyopathy	Hypertrophic cardiomyopathy		GWAS

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining
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

OPN1SW (opsin 1, short wave sensitive)