1. Gene
  2. COA1 - cytochrome c oxidase assembly factor 1 Gene

COA1 - cytochrome c oxidase assembly factor 1 Gene

中文名称:细胞色素 c 氧化酶组装因子 1

种属: Homo sapiens

同用名: C7orf44; MITRAC15

基因 ID: 55744 | 基因类型: protein coding

关于 COA1

Cytogenetic location: 7p13 Genomic coordinates (GRCh38): 7:43,608,457-43,729,523 (from NCBI)

This gene has 19 transcripts (splice variants) and 150 orthologues. Ubiquitous expression in lymph node (RPKM 6.8), appendix (RPKM 4.6) and 25 other tissues.

功能概要

参与线粒体细胞色素 c 氧化酶组装和线粒体呼吸链复合物 I 组装。位于胞质溶胶和线粒体中。是线粒体内膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Involved in mitochondrial cytochrome c oxidase assembly and mitochondrial respiratory chain complex I assembly. Located in cytosol and mitochondrion. Is integral component of mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]

COA1 基因产物(27)

mRNA Protein Name
NM_001321197.2 NP_001308126.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001321198.2 NP_001308127.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001321199.2 NP_001308128.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001321200.2 NP_001308129.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001321201.2 NP_001308130.1 cytochrome c oxidase assembly factor 1 homolog isoform b
NM_001321202.2 NP_001308131.1 cytochrome c oxidase assembly factor 1 homolog isoform c
NM_001321203.2 NP_001308132.1 cytochrome c oxidase assembly factor 1 homolog isoform c
NM_001321204.2 NP_001308133.1 cytochrome c oxidase assembly factor 1 homolog isoform c
NM_001321205.2 NP_001308134.1 cytochrome c oxidase assembly factor 1 homolog isoform c
NM_001350924.2 NP_001337853.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001350925.2 NP_001337854.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001350926.2 NP_001337855.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001350927.2 NP_001337856.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001350928.2 NP_001337857.1 cytochrome c oxidase assembly factor 1 homolog isoform d
NM_001371307.1 NP_001358236.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371308.1 NP_001358237.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371309.1 NP_001358238.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371310.1 NP_001358239.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371311.1 NP_001358240.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371312.1 NP_001358241.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371313.1 NP_001358242.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371314.1 NP_001358243.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371315.1 NP_001358244.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371316.1 NP_001358245.1 cytochrome c oxidase assembly factor 1 homolog isoform a
NM_001371317.1 NP_001358246.1 cytochrome c oxidase assembly factor 1 homolog isoform d
NM_001371318.1 NP_001358247.1 cytochrome c oxidase assembly factor 1 homolog isoform e
NM_018224.4 NP_060694.2 cytochrome c oxidase assembly factor 1 homolog isoform a
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 protein binding IPI
IPI: 通过物理相互作用推断
32320651 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial cytochrome c oxidase assembly IMP
IMP: 通过突变表型推断
23260140 GOA
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: 通过突变表型推断
23260140 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
23260140 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

COA1 蛋白结构

Coa1

Coa1: Cytochrome oxidase complex assembly protein 1 (20 - 133)

  • 0
  • 100
  • 146 a.a.
蛋白主名 其他名称

cytochrome c oxidase assembly factor 1 homolog

cytochrome c oxidase assembly protein 1 homolog

关联疾病

疾病名称 别名
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

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