1. Gene
  2. COQ7 - coenzyme Q7, hydroxylase Gene

COQ7 - coenzyme Q7, hydroxylase Gene

中文名称:辅酶 Q7,羟化酶

种属: Homo sapiens

同用名: CAT5; CLK1; CLK-1; COQ10D8

基因 ID: 10229 | 基因类型: protein coding

关于 COQ7

Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38): 16:19,067,614-19,083,097 (from NCBI)

This gene has 11 transcripts (splice variants), 217 orthologues and is associated with 1 phenotype. Ubiquitous expression in prostate (RPKM 5.8), thyroid (RPKM 5.3) and 25 other tissues.

功能概要

该基因编码的蛋白质类似于酿酒酵母中参与泛醌生物合成的线粒体二铁羟化酶。酵母基因突变导致发育减慢和寿命延长。已发现该基因的可变剪接转录物变体。[RefSeq 提供,2010 年 7 月]

The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]

COQ7 基因产物(9)

mRNA Protein Name
NM_001190983.2 NP_001177912.1 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2
NM_001370489.1 NP_001357418.1 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 3
NM_001370490.1 NP_001357419.1 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 4
NM_001370491.1 NP_001357420.1 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 5
NM_001370492.1 NP_001357421.1 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2
NM_001370493.1 NP_001357422.1 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2
NM_001370494.1 NP_001357423.1 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 2
NM_001370495.1 NP_001357424.1 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 6
NM_016138.5 NP_057222.2 5-demethoxyubiquinone hydroxylase, mitochondrial isoform 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 chromatin binding IDA
IDA: 通过直接分析推断
25961505 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25339443 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
25961505 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
25961505 GOA
involved in regulation of reactive oxygen species metabolic process IMP
IMP: 通过突变表型推断
25961505 GOA
involved in ubiquinone biosynthetic process IMP
IMP: 通过突变表型推断
28409910 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
27499296 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
25961505 GOA
located in nucleus IDA
IDA: 通过直接分析推断
25961505 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

COQ7 蛋白结构

COQ7

COQ7: Ubiquinone biosynthesis protein COQ7 (48 - 217)

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

5-demethoxyubiquinone hydroxylase, mitochondrial

COQ7 coenzyme Q, 7 homolog ubiquinone

重组 COQ7 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70096 COQ7 Protein, Human (HEK293, His) Q99807-1 (S37-L217) ≥95%

关联疾病

疾病名称 别名
Coenzyme Q10 Deficiency, Primary, 8

COQ10D8

Primary Coenzyme Q10 Deficiency 8

Coenzyme Q10 Deficiency, Primary, 7

Neonatal Encephalomyopathy-Cardiomyopathy-Respiratory Distress Syndrome

COQ10D7

Primary Coenzyme Q10 Deficiency 7

Coq4-Related Neonatal Encephalomyopathy

Coenzyme Q10 Deficiency, Primary, Type 7

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

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

Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

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

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

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
Felis catus COQ7 VGNC VGNC:61098
Bos taurus COQ7 VGNC VGNC:27615
Mus musculus COQ7 MGD MGI:107207
Rattus norvegicus COQ7 RGD RGD:2381
Canis familiaris COQ7 VGNC VGNC:39522
Others COQ7 NCBI