CNGA1 - cyclic nucleotide gated channel subunit alpha 1 Gene

中文名称：环核苷酸门控通道亚基 alpha 1

种属: Homo sapiens

同用名: CNCG; CNG1; RP49; CNCG1; CNG-1; RCNC1; RCNCa; RCNCalpha

基因 ID: 1259 | 基因类型: protein coding

关于 CNGA1

Cytogenetic location: 4p12 Genomic coordinates (GRCh38): 4:47,935,977-48,016,681 (from NCBI)

This gene has 7 transcripts (splice variants), 273 orthologues, 17 paralogues and is associated with 4 phenotypes. Broad expression in liver (RPKM 2.5), small intestine (RPKM 1.6) and 17 other tissues.

功能概要

由该基因编码的蛋白质参与光转导。与另一种蛋白质一起，编码的蛋白质在质膜中形成 cGMP 门控阳离子通道，允许杆状光感受器去极化。这代表了光转导途径的最后一步。该基因的缺陷是视网膜色素变性常染色体隐性遗传 (ARRP) 疾病的原因。已发现该基因的多个转录变体。[RefSeq 提供，2019 年 10 月]

The protein encoded by this gene is involved in phototransduction. Along with another protein, the encoded protein forms a cGMP-gated cation channel in the plasma membrane, allowing depolarization of rod photoreceptors. This represents the last step in the phototransduction pathway. Defects in this gene are a cause of retinitis pigmentosa autosomal recessive (ARRP) disease. Multiple transcript variants have been found for this gene. [provided by RefSeq, Oct 2019]

CNGA1 基因产物(3)

mRNA	Protein	Name
NM_000087.5	NP_000078.3	cGMP-gated cation channel alpha-1
NM_001142564.2	NP_001136036.2	cGMP-gated cation channel alpha-1
NM_001379270.1	NP_001366199.1	cGMP-gated cation channel alpha-1

基因本体论

分子功能

分子功能 GO 注释	逻辑证据	参考文献	来源
enables cAMP binding	IDA IDA: 通过直接分析推断	34699778	GOA
enables cGMP binding	IDA IDA: 通过直接分析推断	34699778	GOA
enables intracellularly cAMP-activated cation channel activity	IDA IDA: 通过直接分析推断	34699778	GOA
enables intracellularly cGMP-activated cation channel activity	IDA IDA: 通过直接分析推断	34699778	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20890309	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

CNGA1 蛋白结构

Ion_trans

cNMP_binding

0
200
400
600
690 a.a.

蛋白主名

其他名称

cGMP-gated cation channel alpha-1

CNG channel alpha-1

CNGA1 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
种属间	CNGA1	P29973	Grb14	Mus musculus	Q9JLM9	Anti Tag CoIP	20890309

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

Retinitis Pigmentosa 49

RP49	Retinitis Pigmentosa, Type 49

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

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 45

RP45	Retinitis Pigmentosa, Type 45

Spondylosis

Lumbar Spondylosis With Myelopathy	Lumbosacral Spondylosis Without Myelopathy
Spondylogenic Compression Of Lumbar Spinal Cord	Spondylogenic Compression Of Thoracic Spinal Cord
Spondylosis With Myelopathy	Thoracic Or Lumbar Spondylosis With Myelopathy

Retinitis Pigmentosa 88

RP88	Retinitis Pigmentosa, Type 88

Achromatopsia 2

ACHM2	Rod Monochromatism 2
Rod Monochromacy 2	Rmch2
Colorblindness, Total	Complete Achromatopsia
Total Colorblindness	Achromatopsia-2
Achromatopsia, Type 2	Color Blindness
Achromatopsia

Retinitis Pigmentosa 1

RP1	Retinitis Pigmentosa-1
Retinitis Pigmentosa, Type 1

Achromatopsia

Achm	Rod Monochromatism
Total Color Blindness	Rod Monochromacy
Monochromatism	Achromatism
Complete Or Incomplete Color Blindness	Pingelapese Blindness
Achromatopsia 1	Achromatopsia 2
Achromatopsia 3

Achromatopsia 3

ACHM3	Pingelapese Blindness
Total Colorblindness With Myopia	Achromatopsia With Myopia
Achm1	Rmch1
Rod Monochromacy 1	Rod Monochromatism 1
Achm1, Formerly	Rod Monochromatism 1, Formerly
Rod Monochromacy 1, Formerly	Rmch1, Formerly
Achromatopsia-3	Achromatopsia, Type 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

Achromatopsia 7

ACHM7

Achromatopsia, Type 7

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Macular Dystrophy, Dominant Cystoid

Cystoid Macular Edema	DCMD
Cystoid Macular Dystrophy	Macular Edema, Cystoid
Autosomal Dominant Cystoid Macular Edema	Cymd
Mddc	Familial Macular Edema
Macular Edema	Macular Retinal Edema

Retinitis Pigmentosa 26

RP26	Retinitis Pigmentosa-26
Retinitis Pigmentosa, Type 26

Eye Degenerative Disease

Cone Dystrophy

Retinal Cone Dystrophy	Dystrophy, Cone
Cone Dystrophy 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

Usher Syndrome

Deafness-Retinitis Pigmentosa Syndrome	Dystrophia Retinae Pigmentosa-Dysostosis Syndrome
Graefe-Usher Syndrome	Hallgren Syndrome
Usher'S Syndrome	Retinitis Pigmentosa-Deafness Syndrome
Retinitis Pigmentosa-Hearing Loss Syndrome	Ush
Usher Syndromes

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-RS02879	CNGA1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	CNGA1	VGNC	VGNC:39395
Felis catus	CNGA1	VGNC	VGNC:61011
Mus musculus	CNGA1	MGD	MGI:88436
Rattus norvegicus	CNGA1	RGD	RGD:621815
Bos taurus	CNGA1	VGNC	VGNC:27497
Macaca mulatta	CNGA1	VGNC	VGNC:71273

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

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）

CNGA1 - cyclic nucleotide gated channel subunit alpha 1 Gene

关于 CNGA1

功能概要

CNGA1 基因产物(3)

CNGA1 蛋白结构

CNGA1 蛋白互作信息

关联疾病

直系同源

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CNGA1 - cyclic nucleotide gated channel subunit alpha 1 Gene

关于 CNGA1

功能概要

CNGA1 基因产物(3)

CNGA1 蛋白结构

CNGA1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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C

F

G

H

J

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