1. Gene
  2. COA5 - cytochrome c oxidase assembly factor 5 Gene

COA5 - cytochrome c oxidase assembly factor 5 Gene

中文名称:细胞色素 c 氧化酶组装因子 5

种属: Homo sapiens

同用名: MC4DN9; Pet191; C2orf64; CEMCOX3; 6330578E17Rik

基因 ID: 493753 | 基因类型: protein coding

关于 COA5

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:98,599,314-98,608,512 (from NCBI)

This gene has 5 transcripts (splice variants), 176 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 12.5), kidney (RPKM 12.0) and 25 other tissues.

功能概要

该基因编码酵母 Pet191 的直系同源物,在酵母中它是与线粒体内膜相关的大型寡聚复合物的亚基,并且是组装细胞色素 c 氧化酶复合物所必需的。该基因的突变与线粒体复合物 IV 缺陷有关,这是一种线粒体呼吸链疾病,具有异质性临床表现,从孤立的肌病到影响多个组织和器官的严重疾病。[RefSeq 提供,2011 年 12 月]

This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]

COA5 基因产物(1)

mRNA Protein Name
NM_001008215.3 NP_001008216.1 cytochrome c oxidase assembly factor 5
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 protein binding IPI
IPI: 通过物理相互作用推断
25416956 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

COA5 蛋白结构

Pet191_N

Pet191_N: Cytochrome c oxidase assembly protein PET191 (11 - 71)

  • 0
  • 74 a.a.
蛋白主名 其他名称

cytochrome c oxidase assembly factor 5

protein C2orf64

COA5 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
COA5 Q86WW8 KRTAP1-3 Homo sapiens Q8IUG1 32296183
种属内
COA5 Q86WW8 KRTAP1-3 Homo sapiens Q8IUG1 32296183
种属内
COA5 Q86WW8 TCF4 Homo sapiens P15884-3 32296183
种属内
COA5 Q86WW8 TCF4 Homo sapiens P15884-3 32296183
种属内
COA5 Q86WW8 CYSRT1 Homo sapiens A8MQ03 32296183
种属内
COA5 Q86WW8 CYSRT1 Homo sapiens A8MQ03 32296183
种属内
COA5 Q86WW8 CYSRT1 Homo sapiens A8MQ03 32296183
种属内
COA5 Q86WW8 KRT31 Homo sapiens Q15323 25416956
种属内
COA5 Q86WW8 KRT31 Homo sapiens Q15323 25416956
种属内
COA5 Q86WW8 KRT31 Homo sapiens Q15323 25416956
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 9

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 3

MC4DN9

Cemcox3

Mitochondrial Complex Iv, Deficiency, Nuclear Type 9

Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency 3

Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency

Fatal Infantile Cox Deficiency

Fatal Infantile Cytochrome C Oxidase Deficiency

Fatal Infantile Encephalocardiomyopathy

Neuropathy, Ataxia, And Retinitis Pigmentosa

Narp Syndrome

NARP

Neurogenic Muscle Weakness, Ataxia, And Retinitis Pigmentosa

Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome

Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome

Neuropathy, Ataxia And Retinitis Pigmentosa

Neuropathy Ataxia Retinitis Pigmentosa Syndrome

Neuropathy, Ataxia, And Retinitis Pigmentos

Neuropathy Ataxia And Retinitis Pigmentosa

Neuropathy, Ataxia, Retinitis Pigmentosa

Neuropathy Ataxia And Retinis Pigmentosa

Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis

SANDO

Mitochondrial Recessive Ataxia Syndrome

Spinocerebellar Ataxia With Epilepsy

Epilepsy, Progressive Myoclonic 5

Epm5

Miras

SCAE

Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive

Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions

Progressive Myoclonic Epilepsy Type 5

Pme Type 5

Progressive Myoclonus Epilepsy Type 5

Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome

Recessive Mitochondrial Ataxia Syndrome

Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis

Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome

Mscae

Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive

Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy

Epilepsy, Progressive Myoclonic, 5

Ataxia Neuropathy Spectrum

Mitochondrial Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency

Cox Deficiency

Cytochrome-C Oxidase Deficiency Disease

MC1DN4

Cytochrome-C Oxidase Deficiency

MC4DN1

Mitochondrial Complex I Deficiency, Nuclear Type 4

Complex 4 Mitochondrial Respiratory Chain Deficiency

Complex Iv Deficiency

Mitochondrial Complex 1 Deficiency, Nuclear Type 4

Nuclear Type Mitochondrial Complex I Deficiency 4

Deficiency Of Mitochondrial Respiratory Chain Complex4

MT-C4D

Complex Iv Mitochondrial Respiratory Chain Deficiency

Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Mitochondrial Complex Ii Deficiency

Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency

Isolated Succinate-Coenzyme Q Reductase Deficiency

Isolated Succinate-Coq Reductase Deficiency

Isolated Succinate-Ubiquinone Reductase Deficiency

Mitochondrial Respiratory Chain Complex Ii Deficiency

Complex 2 Mitochondrial Respiratory Chain Deficiency

Succinate Coq Reductase Deficiency

Succinate Dehydrogenase Deficiency

Isolated Succinate Dehydrogenase Deficiency

Succinate-Coenzyme Q Reductase Deficiency

Myopathy

Muscular Diseases

Myopathies

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
Canis familiaris COA5 VGNC VGNC:39443
Rattus norvegicus COA5 RGD RGD:1565095
Mus musculus COA5 MGD MGI:1923428
Bos taurus COA5 VGNC VGNC:27544
Felis catus COA5 VGNC VGNC:61043