GNAT1 - G protein subunit alpha transducin 1 Gene

中文名称：G 蛋白亚基α转导蛋白 1

种属: Homo sapiens

同用名: GBT1; HG1F; GNATR; CSNB1G; CSNBAD3

基因 ID: 2779 | 基因类型: protein coding

关于 GNAT1

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:50,191,610-50,197,696 (from NCBI)

This gene has 5 transcripts (splice variants), 212 orthologues, 15 paralogues and is associated with 6 phenotypes. Low expression observed in reference dataset.

功能概要

转导蛋白是一种 3 亚基鸟嘌呤核苷酸结合蛋白 (G 蛋白) ，可在视觉冲动期间刺激视紫红质和 cGMP-磷酸二酯酶的偶联。视杆细胞和视锥细胞中的转导蛋白 α 亚基由不同的基因编码。该基因编码视杆细胞中的 α 亚基。该基因也在其他细胞中表达，并且与大鼠味觉细胞中的苦味转导有关。该基因的突变导致常染色体显性先天性静止性夜盲症。已经鉴定出编码相同蛋白质的多个可变剪接变体。[RefSeq 提供，2009 年 2 月]

Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in rods. This gene is also expressed in Other cells, and has been implicated in bitter taste transduction in rat taste cells. Mutations in this gene result in autosomal dominant congenital stationary night blindness. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]

GNAT1 基因产物(2)

mRNA	Protein	Name
NM_000172.4	NP_000163.2	guanine nucleotide-binding protein G(t) subunit alpha-1
NM_144499.3	NP_653082.1	guanine nucleotide-binding protein G(t) subunit alpha-1

基因本体论

生物过程
细胞组分

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in detection of light stimulus involved in visual perception	IMP IMP: 通过突变表型推断	17584859	GOA
involved in phototransduction, visible light	IMP IMP: 通过突变表型推断	17584859	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in photoreceptor inner segment	IDA IDA: 通过直接分析推断	2534964	GOA
located in photoreceptor outer segment	IDA IDA: 通过直接分析推断	2534964	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

GNAT1 蛋白结构

G-alpha

0
100
200
300
350 a.a.

蛋白主名

其他名称

guanine nucleotide-binding protein G(t) subunit alpha-1

guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1

关联疾病

疾病名称

别名

Night Blindness, Congenital Stationary, Autosomal Dominant 3

Congenital Stationary Night Blindness Autosomal Dominant 3	CSNBAD3
Night Blindness, Congenital Stationary, Nougaret Type	Nougaret Type Congenital Stationary Night Blindness
Congenital Stationary Night Blindness Nougaret Type	Hemeralopia Congenital Essential
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 3

Night Blindness, Congenital Stationary, Type 1g

CSNB1G	Congenital Stationary Night Blindness 1g
Congenital Stationary Night Blindness Type 1g	Night Blindness, Congenital Stationary, 1g
Blindness, Night, Stationary, Congenital, Type 1g

Congenital Stationary Night Blindness

Night Blindness, Congenital Stationary	Congenital Essential Nyctalopia
Oguchi Disease	Blindness, Night, Stationary, Congenital

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

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

Autosomal Dominant Congenital Stationary Night Blindness

Adcsnb	Csnbad
Night Blindness, Congenital Stationary, Autosomal Dominant

Night Blindness

Nyctalopia

Night Blindness, Congenital Stationary, Autosomal Dominant 1

Congenital Stationary Night Blindness Autosomal Dominant 1	CSNBAD1
Rhodopsin-Related Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary, Rhodopsin-Related
Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 1

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa 47

RP47	Retinitis Pigmentosa, Type 47

Retinitis Pigmentosa 4

RP4	Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive
Retinitis Pigmentosa, Rhodopsin-Related	Retinitis Pigmentosa, Type 4

Abnormal Threshold Of Rods

Abnormal Dark Adaptation Curve

Night Blindness, Congenital Stationary, Type 1a

Congenital Stationary Night Blindness 1a	CSNB1A
Hemeralopia-Myopia	Myopia-Night Blindness
Night Blindness, Congenital Stationary , 1a, X-Linked	Congenital Stationary Night Blindness With Myopia
Csnb, Complete, X-Linked	Night Blindness, Congenital Stationary, With Myopia
Nbm1	Complete Csnb X-Linked
Congenital Stationary Night Blindness 1a X-Linked	Nbmi
Night Blindness, Congenital Stationary, 1a	Complete X-Linked Csnb
Nyctalopia	Xlcsnb
X-Linked Congenital Stationary Night Blindness	Blindness, Night, Stationary, Congenital, Type 1a
Night Blindness	X-Linked Csnb
Night Blindness, Congenital Stationary, Type 2a

Myopia

Near-Sightedness	Short-Sightedness
Nearsightedness	Nearsighted
Near Vision	Close Sighted
Myopic	Short-Sighted
Near Sighted

Retinal Degeneration

Degeneration Of Retina

Fundus Albipunctatus

Retinitis Punctata Albescens	Pigmentary Retinal Dystrophy
RPA	Albipunctate Retinal Dystrophy
Lauber'S Disease	FALBI
Fa

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 3

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

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05541	GNAT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	GNAT1	RGD	RGD:1304683
Felis catus	GNAT1	VGNC	VGNC:102588
Canis familiaris	GNAT1	VGNC	VGNC:41307
Mus musculus	GNAT1	MGD	MGI:95778
Macaca mulatta	GNAT1	VGNC	VGNC:110363
Bos taurus	GNAT1	VGNC	VGNC:29454

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

GNAT1 - G protein subunit alpha transducin 1 Gene

关于 GNAT1

功能概要

GNAT1 基因产物(2)

GNAT1 蛋白结构

关联疾病

直系同源

热门区域

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GNAT1 - G protein subunit alpha transducin 1 Gene

关于 GNAT1

功能概要

GNAT1 基因产物(2)

GNAT1 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z