COQ5 - coenzyme Q5, methyltransferase Gene

中文名称：辅酶 Q5，甲基转移酶

种属: Homo sapiens

同用名: COQ10D9

基因 ID: 84274 | 基因类型: protein coding

关于 COQ5

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:120,503,279-120,529,158 (from NCBI)

This gene has 8 transcripts (splice variants), 203 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in kidney (RPKM 15.5), liver (RPKM 13.7) and 25 other tissues.

功能概要

启用 2-octaprenyl-6-methoxy-1,4-benzoquinone 甲基化酶活性。参与甲基化和泛醌生物合成过程。位于线粒体基质中。部分含蛋白质复合物。与线粒体内膜共定位。涉及初级辅酶 Q10 缺乏症 9。[由基因组资源联盟提供，2022 年 4 月]

Enables 2-octaprenyl-6-methoxy-1,4-benzoquinone methylase activity. Involved in methylation and ubiquinone biosynthetic process. Located in mitochondrial matrix. Part of protein-containing complex. Colocalizes with mitochondrial inner membrane. Implicated in primary coenzyme Q10 deficiency 9. [provided by Alliance of Genome Resources, Apr 2022]

COQ5 基因产物(1)

mRNA	Protein	Name
NM_032314.4	NP_115690.3	2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial precursor

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 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity	IDA IDA: 通过直接分析推断	25152161	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25152161	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in methylation	IDA IDA: 通过直接分析推断	25152161	GOA
involved in ubiquinone biosynthetic process	IGI IGI: 通过遗传相互作用推断	25152161	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
colocalizes with mitochondrial inner membrane	IDA IDA: 通过直接分析推断	25152161	GOA
located in mitochondrial inner membrane	IDA IDA: 通过直接分析推断	27499296	GOA
located in mitochondrial matrix	IDA IDA: 通过直接分析推断	25152161	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	25152161	GOA
part of ubiquinone biosynthesis complex	IPI IPI: 通过物理相互作用推断	27499296	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

COQ5 蛋白结构

Ubie_methyltran

0
100
200
300
327 a.a.

蛋白主名

其他名称

2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial

coenzyme Q5 homolog, methyltransferase

关联疾病

疾病名称

别名

Coenzyme Q10 Deficiency, Primary, 9

COQ10D9

Primary Coenzyme Q10 Deficiency 9

Coenzyme Q10 Deficiency, Primary, 4

Scar9	Spinocerebellar Ataxia, Autosomal Recessive 9
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	COQ10D4
Arca2	Autosomal Recessive Cerebellar Ataxia Type 2
Primary Coenzyme Q10 Deficiency 4	Autosomal Recessive Ataxia Due To Coenzyme Q10 Deficiency
Autosomal Recessive Spinocerebellar Ataxia Type 9	Autosomal Recessive Spinocerebellar Ataxia 9
Spinocerebellar Ataxia Autosomal Recessive 9	Coenzyme Q10 Deficiency, Primary, Type 4
Ataxia, Spinocerebellar, Autosomal Recessive, Type 9

Immunodeficiency 24

Severe Combined Immunodeficiency Due To Ctps1 Deficiency	IMD24
Scid Due To Ctps1 Deficiency	Immunodeficiency, Type 24

Cardiomyopathy, Dilated, 1hh

Dilated Cardiomyopathy 1hh	CMD1HH
Cardiomyopathy, Dilated 1hh	Cardiomyopathy, Dilated, Type 1hh

Nephrotic Syndrome, Type 9

NPHS9	Nephrotic Syndrome Type 9
Nephrotic Syndrome 9

Coenzyme Q10 Deficiency Disease

Coenzyme Q10 Deficiency	Coq10 Deficiency
Primary Coenzyme Q10 Deficiency	Coenzyme Q Deficiency
Coq Deficiency	Primary Coq10 Deficiency
Ubiquinone Deficiency	Coenzyme Q10 Deficiency, Primary
Coq10 Deficiency, Primary

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Spondyloepiphyseal Dysplasia, Nishimura Type

SEDN	Spondyloepiphyseal Dysplasia Nishimura Type

Multiple Acyl-Coa Dehydrogenase Deficiency

MADD	Ethylmalonic-Adipicaciduria
Ema	Glutaric Acidemia Iia
Glutaric Acidemia Iib	Ga Ii
Glutaric Acidemia Iic	Glutaric Acidemia Type 2
Glutaric Acidemia Ii	Glutaric Aciduria Ii
Electron Transfer Flavoprotein Deficiency	Glutaric Aciduria Type 2
Mad Deficiency	Glutaric Acidemia Type Ii
Glutaric Aciduria 2	Etfa Deficiency
Etfb Deficiency	Etfdh Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency	Ga2
Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency	Electron Transfer Flavoprotein Dehydrogenase Deficiency
Ga 2	Glutaric Acidemia 2
Glutaric Acidemia, Type 2	Glutaric Aciduria, Type 2
Mad	Multiple Fad Dehydrogenase Deficiency
Ethylmalonic Adipic Aciduria	Glutaricaciduria Ii
Glutaric Aciduria 2a	GA2A
Gaiia	Glutaricaciduria Iia
Glutaric Aciduria 2b	GA2B
Gaiib	Glutaricaciduria Iib
Glutaric Aciduria 2c	GA2C
Gaiic	Glutaricaciduria Iic
Glutaricaciduria, Type Iia	Glutaric Acidemia Type 2a
Glutaric Acidemia Type 2c	Glutaric Aciduria Iia
Glutaric Aciduria Iib	Glutaric Aciduria Iic

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency	Nadh:Q(1) Oxidoreductase Deficiency
MC1DN1	Nadh-Coenzyme Q Reductase Deficiency
Isolated Mitochondrial Respiratory Chain Complex I Deficiency	Isolated Nadh-Coenzyme Q Reductase Deficiency
Isolated Nadh-Coq Reductase Deficiency	Isolated Nadh-Ubiquinone Reductase Deficiency
Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of	Nuclear Type Mitochondrial Complex I Deficiency 1
Isolated Complex I Deficiency	Complex 1 Mitochondrial Respiratory Chain Deficiency
Nadh Coenzyme Q Reductase Deficiency	Complex I Mitochondrial Respiratory Chain Deficiency
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I	Nadh:Ubiquinone Oxidoreductase Deficiency
Complex I, Mitochondrial Respiratory Chain, Deficiency Of

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-RS03041	COQ5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	COQ5	VGNC	VGNC:27613
Felis catus	COQ5	VGNC	VGNC:80434
Mus musculus	COQ5	MGD	MGI:1098643
Rattus norvegicus	COQ5	RGD	RGD:1310857
Canis familiaris	COQ5	VGNC	VGNC:39520
Macaca mulatta	COQ5	VGNC	VGNC:81376

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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）

COQ5 - coenzyme Q5, methyltransferase Gene

关于 COQ5

功能概要

COQ5 基因产物(1)

COQ5 蛋白结构

关联疾病

直系同源

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COQ5 - coenzyme Q5, methyltransferase Gene

关于 COQ5

功能概要

COQ5 基因产物(1)

COQ5 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