2. Gene
  3. COA7 - cytochrome c oxidase assembly factor 7 Gene

COA7 - cytochrome c oxidase assembly factor 7 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：细胞色素 c 氧化酶组装因子 7

种属: Homo sapiens

同用名: RESA1; SCAN3; SELRC1; C1orf163

基因 ID: 65260 | 基因类型: protein coding

关于 COA7

Cytogenetic location: 1p32.3 Genomic coordinates (GRCh38): 1:52,684,449-52,698,347 (from NCBI)

This gene has 2 transcripts (splice variants), 202 orthologues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 6.1), colon (RPKM 6.0) and 25 other tissues.

功能概要

位于线粒体膜间隙和核质中。 [由基因组资源联盟提供，2022 年 4 月]

Located in mitochondrial intermembrane space and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

COA7 基因产物(1)

mRNA Protein Name
NM_023077.3 NP_075565.2 cytochrome c oxidase assembly factor 7
基因本体论
  • 分子功能
  • 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
30885959 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial intermembrane space IDA
IDA: 通过直接分析推断
30885959 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

COA7 蛋白结构

Sel1

Sel1: Sel1 repeat (68 - 102)

Sel1

Sel1: Sel1 repeat (109 - 146)

Sel1

Sel1: Sel1 repeat (149 - 183)

Sel1

Sel1: Sel1 repeat (186 - 208)

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

cytochrome c oxidase assembly factor 7

Sel1 repeat containing 1

关联疾病

疾病名称 别名
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3

SCAN3
Axonal Neuropathy
Neuronopathy, Distal Hereditary Motor, Type Iib

HMN2B

Hmn Iib

Neuropathy, Distal Hereditary Motor, Type Iib

Dhmn2b

Distal Hereditary Motor Neuropathy Type 2b

Distal Hereditary Motor Neuropathy Type Iib

Neuronopathy, Distal Hereditary Motor, Type 2b

Neuronopathy, Distal Hereditary Motor, 2b

Dhmn Ii

Neuropathy, Motor, Distal, Hereditary, Type 2b
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
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
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS02944 COA7 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 COA7 VGNC VGNC:53859
Felis catus COA7 VGNC VGNC:107512
Macaca mulatta COA7 VGNC VGNC:99870
Rattus norvegicus COA7 RGD RGD:1305274
Mus musculus COA7 MGD MGI:1917143
Canis familiaris COA7 VGNC VGNC:54197
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