1. Gene
  2. OPN1SW - opsin 1, short wave sensitive Gene

OPN1SW - opsin 1, short wave sensitive Gene

中文名称:opsin 1,短波敏感

种属: Homo sapiens

同用名: BCP; BOP; CBT

基因 ID: 611 | 基因类型: protein coding

关于 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.

功能概要

该基因属于 G 蛋白偶联受体 1 家族,视蛋白亚家族。它编码蓝色视锥细胞色素基因,该基因是负责正常色觉的三种视锥细胞之一。该基因的缺陷是 tritan 色盲 (tritanopia) 的原因。受影响的个体缺乏蓝色和黄色的感觉机制,但保留了红色和绿色的感觉机制。蓝视力缺陷是特征。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_001385125.1 NP_001372054.1 short-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 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 cellular response to UV-A IDA
IDA: 通过直接分析推断
31380578 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
30168605 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
31380578 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

OPN1SW 蛋白结构

7tm_1

7tm_1: 7 transmembrane receptor (rhodopsin family) (52 - 303)

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

short-wave-sensitive opsin 1

blue cone photoreceptor pigment

OPN1SW 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
OPN1SW P03999 MFF Homo sapiens Q9GZY8-5 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
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

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
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