OPN1LW - opsin 1, long wave sensitive Gene

Homo sapiens

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

Gene ID: 5956 | Gene type: protein coding

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

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)

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

Bioactive Molecules (1)

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

Orthologs Information

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

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