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  2. OPN1MW - opsin 1, medium wave sensitive Gene

OPN1MW - opsin 1, medium wave sensitive Gene

中文名称:视蛋白 1,中波敏感

种属: Homo sapiens

同用名: CBD; GCP; GOP; CBBM; COD5; OPN1MW1

基因 ID: 2652 | 基因类型: protein coding

关于 OPN1MW

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:154,182,596-154,196,861 (from NCBI)

This gene has 3 transcripts (splice variants), 235 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。编码的蛋白质称为绿锥感光色素或中波长敏感视蛋白。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。长波长视蛋白基因和中波长视蛋白基因的多个拷贝串联排列在 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。该基因的缺陷是深绿色色盲的原因。[RefSeq 提供,2009 年 3 月]

This gene encodes for a LIGHT absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of 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 deutanopic colorblindness. [provided by RefSeq, Mar 2009]

OPN1MW 基因产物(1)

mRNA Protein Name
NM_000513.2 NP_000504.1 medium-wave-sensitive opsin 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables identical protein binding IDA
IDA: 通过直接分析推断
28402104 GOA
enables photoreceptor activity IMP
IMP: 通过突变表型推断
8185948 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
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
20579627 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

OPN1MW 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

medium-wave-sensitive opsin 1

Medium-wave-sensitive opsin 2

关联疾病

疾病名称 别名
Colorblindness, Partial, Deutan Series

Deutan Colorblindness

Deuteranopia

CBD

Dcb

Green Colorblindness

Colorblindness, Deutan

Colorblindness, Deutan Series, Partial

Color Blindness, Red-Green

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

Red-Green Color Blindness

Deutan Defect

Deuteranopia

Reduced Red-Green Discrimination

Color Blindness, Red-Green

Colorblindness, Partial, Deutan Series

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 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

Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3

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

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

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 OPN1MW MGD MGI:1097692
Rattus norvegicus OPN1MW RGD RGD:620978