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OPN1SW - opsin 1, short wave sensitive Gene

Also Known as BCP; BOP; CBT

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 611

About OPN1SW

Cytogenetic location: 7q32.1 Genomic coordinates (GRCh38): 7:128,772,485-128,775,794 (from NCBI)

This gene has 1 transcript (splice variant), 177 orthologues, 9 paralogues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 1.6), appendix (RPKM 1.4) and 24 other tissues.

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 blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic. [provided by RefSeq, Jul 2008]

OPN1SW Products (1)

mRNA	Protein	Name
NM_001385125.1	NP_001372054.1	short-wave-sensitive opsin 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in cellular response to UV-A	IDA IDA: Inferred from direct assay	31380578	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	30168605	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	31380578	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OPN1SW Protein Structure

7tm_1

0
100
200
300
348 a.a.

Protein Preferred Names	Protein Names
short-wave-sensitive opsin 1	blue cone photoreceptor pigment

OPN1SW Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	OPN1SW	P03999	MFF	Homo sapiens	Q9GZY8-5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Tritanopia	Blue Color Blindness Colorblindness, Tritan Blue Colorblindness CBT Colorblindness, Tritanopic Tritan Defect Blue Colour Blindness Congenital Tritanopia Tritan Colour Blindness Tritan Color Blindness Color Vision Defects Color Blindness, Blue Color Vision Defect Color Blindness
Color Blindness	Color Vision Defect Blindness Color Colour Blindness Colour Vision Deficiency Color Vision Deficiency Color Vision Defects Defective Color Vision Vision Defect, Color Color-Vision Disease Dyschromatopsia
Tietz Albinism-Deafness Syndrome	Tietz Syndrome Albinism-Deafness Of Tietz Hypopigmentation/Deafness Of Tietz Tietze'S Syndrome TADS Costochondral Junction Syndrome Costochondritis Tietze Syndrome Hypopigmentation-Deafness Syndrome Costalchondritis Slipping Rib Syndrome Tietze'S Disease Chondropathia Tuberosa Albinism And Complete Nerve Deafness Tietz'S Syndrome Hypopigmentation-Hearing Loss Syndrome Costal Chondritis Abnormality Of The Costochondral Junction
Colorblindness, Partial, Protan Series	Protanopia Red Color Blindness Protan Defect CBP Red Colorblindness Colorblindness, Protan Color Blindness, Red
Red-Green Color Blindness	Deutan Defect Deuteranopia Reduced Red-Green Discrimination Color Blindness, Red-Green Colorblindness, Partial, Deutan Series
Myopathy, Centronuclear, 2	Myopathy, Centronuclear, Autosomal Recessive Autosomal Recessive Centronuclear Myopathy CNM2 Centronuclear Myopathy 2 Ar-Cnm Myotubular Myopathy, Autosomal Recessive Autosomal Recessive Myotubular Myopathy Centronuclear Myopathy Autosomal Recessive Myopathy, Centronuclear, Type 2
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS09797	OPN1SW Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	OPN1SW	RGD	RGD:621033
Canis familiaris	OPN1SW	VGNC	VGNC:44129
Felis catus	OPN1SW	VGNC	VGNC:63968
Bos taurus	OPN1SW	VGNC	VGNC:32436
Macaca mulatta	OPN1SW	VGNC	VGNC:108426
Mus musculus	OPN1SW	MGD	MGI:99438