1. Gene
  2. OPN1LW - opsin 1, long wave sensitive Gene

OPN1LW - opsin 1, long wave sensitive Gene

中文名称:视蛋白 1,长波敏感

种属: Homo sapiens

同用名: CBP; RCP; ROP; CBBM; COD5

基因 ID: 5956 | 基因类型: protein coding

关于 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.

功能概要

该基因编码视蛋白基因家族的一种吸光视觉色素。编码的蛋白质称为红锥感光色素或长波长敏感视蛋白。视蛋白是具有七个跨膜结构域、一个 N 端胞外结构域和一个 C 端胞质结构域的 G 蛋白偶联受体。该基因与中波长视蛋白基因串联排列在 X 染色体上,这些序列之间可能发生频繁的不等重组和基因转换。 X 染色体可能具有中长波视蛋白基因的融合,或者可能具有这些基因的多个拷贝。该基因的缺陷是部分性红色盲色盲的原因。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_020061.6 NP_064445.2 long-wave-sensitive opsin 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables photoreceptor activity IMP
IMP: 通过突变表型推断
8185948 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of cytokinesis IMP
IMP: 通过突变表型推断
22888021 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

OPN1LW 蛋白结构

7tm_1

7tm_1: 7 transmembrane receptor (rhodopsin family) (71 - 322)

  • 0
  • 100
  • 200
  • 300
  • 364 a.a.
蛋白主名 其他名称

long-wave-sensitive opsin 1

cone dystrophy 5 (X-linked)

OPN1LW 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
OPN1LW P04000 NRM Homo sapiens Q8IXM6 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Mus musculus OPN1LW MGD MGI:1097692
Others OPN1LW NCBI