OPN1LW - opsin 1, long wave sensitive Gene

Also Known as CBP; RCP; ROP; CBBM; COD5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5956

About OPN1LW

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,144,243-154,159,032 (from NCBI)

This gene has 3 transcripts (splice variants), 231 orthologues, 9 paralogues and is associated with 7 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of partial, protanopic colorblindness. [provided by RefSeq, Jul 2008]

OPN1LW Products (1)

mRNA	Protein	Name
NM_020061.6	NP_064445.2	long-wave-sensitive opsin 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables photoreceptor activity	IMP IMP: Inferred from mutant phenotype	8185948	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of cytokinesis	IMP IMP: Inferred from mutant phenotype	22888021	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

OPN1LW Protein Structure

7tm_1

0
100
200
300
364 a.a.

Protein Preferred Names	Protein Names
long-wave-sensitive opsin 1	cone dystrophy 5 (X-linked)

OPN1LW Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	OPN1LW	P04000	NRM	Homo sapiens	Q8IXM6	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Blue Cone Monochromacy	Blue Cone Monochromatism BCM Cbbm Color Blindness Blue Mono Cone Monochromatic Type Cone Dystrophy 5, X-Linked Colorblindness, Blue-Mono-Cone-Monochromatic Type Achromatopsia Incomplete X-Linked Incomplete Achromatopsia X-Linked X-Chromosome-Linked Achromatopsia X-Linked Achromatopsia Incomplete Atypical X-Linked Achromatopsia Color Blindness, Blue Monocone Monochromatic Type S Cone Monochromacy S Cone Monochromatism X-Linked Incomplete Achromatopsia Colorblindness Blue-Mono-Cone-Monochromatic Type Cone Dystrophy 5 COD5 Cone Dystrophy 5 X-Linked Monochromacy, Blue Cone Cone Monochromatism Achromatopsia Incomplete, X-Linked
Colorblindness, Partial, Protan Series	Protanopia Red Color Blindness Protan Defect CBP Red Colorblindness Colorblindness, Protan Color Blindness, Red
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
Bornholm Eye Disease	BED Myopia, High, With Nonprogressive Cone Dysfunction X-Linked Cone Dysfunction Syndrome With Myopia
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
Adult Acute Monocytic Leukemia	Adult Acute Monoblastic And Acute Monocytic Leukemia
Red-Green Color Blindness	Deutan Defect Deuteranopia Reduced Red-Green Discrimination Color Blindness, Red-Green Colorblindness, Partial, Deutan Series
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Cone-Rod Dystrophy, X-Linked, 1	CORDX1 X-Linked Cone-Rod Dystrophy 1 Cod1 Cone Dystrophy X-Linked 1 X-Linked Cone Dystrophy 1 Cone-Rod Dystrophy X-Linked 1 Cone-Rod Dystrophy, X-Linked 1 Dystrophy, Cone-Rod, X-Linked, Type 1 Cone Dystrophy, X-Linked, 1
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
Chromosome 20q11-Q12 Deletion Syndrome	Intellectual Developmental Disorder, Autosomal Dominant 11 Autosomal Dominant Non-Syndromic Intellectual Disability 11 MRD11 Intellectual Developmental Disorder, Autosomal Dominant 11, Included Mrd11, Included Mental Retardation, Autosomal Dominant 11, Included Autosomal Dominant Intellectual Developmental Disorder 11 Autosomal Dominant Mental Retardation 11 Mental Retardation, Autosomal Dominant, Type 11
Nystagmus 6, Congenital, X-Linked	NYS6 Congenital Nystagmus 6 X-Linked Congenital Nystagmus 6 Nystagmus Congenital X-Linked 6 Nystagmus, Type 6, Congenital, X-Linked
Hypoglycemia, Leucine-Induced	Leucine-Sensitive Hypoglycemia Of Infancy Leucine-Induced Hypoglycemia LIH Hypoglycemia Of Infancy, Leucine-Sensitive Familial Infantile Hypoglycemia Precipitated By Leucine Hypoglycemia Leucine Induced Hypoglycemia Leucine-Induced
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Cone-Rod Dystrophy, X-Linked, 2	CORDX2 Cod2 X-Linked Cone-Rod Dystrophy 2 Cone Dystrophy 2, X-Linked Cone Dystrophy, Progressive X-Linked, 2 X-Linked Cone Dystrophy 2 Cone-Rod Dystrophy X-Linked 2 Cone Dystrophy X-Linked 2 Cone Dystrophy-2, X-Linked
Cone-Rod Dystrophy 5	CORD5 Dystrophy, Cone-Rod, Type 5
Emery-Dreifuss Muscular Dystrophy	Edmd Emery-Dreifuss Syndrome Muscular Dystrophy, Emery-Dreifuss Humeroperoneal Neuromuscular Disease Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures Scapuloperoneal Syndrome, X-Linked Benign Scapuloperoneal Muscular Dystrophy With Early Contractures Muscular Dystrophy, Emery-Dreifuss Type Muscular Dystrophy Emery-Dreifuss Dystrophy, Muscular, Emery-Dreifuss Emd - [Emery-Dreifuss Muscular Dystrophy]
Spinocerebellar Ataxia 13	Spinocerebellar Ataxia Type 13 SCA13 Autosomal Dominant Cerebellar Ataxia With Intellectual Disability Cerebellar Ataxia, Autosomal Dominant With Intellectual Disability Spinocerebellar Ataxia-13 Ataxia, Spinocerebellar, Type 13
Pathologic Nystagmus	Nystagmus
Refractive Error	Refractive Errors
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
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
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
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09795	OPN1LW Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	OPN1LW	MGD	MGI:1097692
Others	OPN1LW	NCBI