2. Gene
  3. COA8 - cytochrome c oxidase assembly factor 8 Gene

COA8 - cytochrome c oxidase assembly factor 8 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 8

种属: Homo sapiens

同用名: APOP; APOP1; APOPT1; MC4DN17; C14orf153

基因 ID: 84334 | 基因类型: protein coding

关于 COA8

Cytogenetic location: 14q32.33 Genomic coordinates (GRCh38): 14:103,562,960-103,590,899 (from NCBI)

This gene has 17 transcripts (splice variants), 180 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 10.4), fat (RPKM 5.7) and 25 other tissues.

功能概要

该基因编码一种定位于线粒体的蛋白质，在那里它刺激细胞色素 c 的释放，从而促进程序性细胞死亡。已在患有线粒体复合物 IV 缺陷的个体中发现该基因的突变。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 11 月]

This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

COA8 基因产物(4)

mRNA Protein Name
NM_001302652.2 NP_001289581.2 cytochrome c oxidase assembly factor 8 isoform 2
NM_001302653.2 NP_001289582.2 cytochrome c oxidase assembly factor 8 isoform 3
NM_001302654.2 NP_001289583.2 cytochrome c oxidase assembly factor 8 isoform 4
NM_001370595.2 NP_001357524.1 cytochrome c oxidase assembly factor 8 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 protein binding IPI
IPI: 通过物理相互作用推断
28514442 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 IDA
IDA: 通过直接分析推断
30552096 GOA
involved in mitochondrial cytochrome c oxidase assembly IMP
IMP: 通过突变表型推断
25175347 GOA
involved in negative regulation of reactive oxygen species biosynthetic process IMP
IMP: 通过突变表型推断
25175347 GOA
involved in positive regulation of cytochrome-c oxidase activity IDA
IDA: 通过直接分析推断
30552096 GOA
involved in positive regulation of cytochrome-c oxidase activity IMP
IMP: 通过突变表型推断
25175347 GOA
involved in protein stabilization IDA
IDA: 通过直接分析推断
30552096 GOA
involved in response to reactive oxygen species IDA
IDA: 通过直接分析推断
30552096 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in matrix side of mitochondrial inner membrane IDA
IDA: 通过直接分析推断
30552096 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
25175347 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

COA8 蛋白结构

DUF2315

DUF2315: Uncharacterised conserved protein (DUF2315) (66 - 196)

  • 0
  • 100
  • 206 a.a.
蛋白主名 其他名称

cytochrome c oxidase assembly factor 8

UPF0671 protein C14orf153

关联疾病

疾病名称 别名
Mitochondrial Complex Iv Deficiency, Nuclear Type 17

MC4DN17

Mitochondrial Complex 4 Deficiency, Nuclear Type 17
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
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
Charcot-Marie-Tooth Disease, Type 4k

Charcot-Marie-Tooth Disease Type 4k

CMT4K

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k

Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k

Surf1-Related Charcot-Marie-Tooth Disease Type 4

Surf1-Related Cmt4

Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k

Charcot-Marie-Tooth Disease 4k

Charcot-Marie-Tooth Disease, Demyelinating, Type 4k

Charcot-Marie-Tooth Neuropathy, Type 4k
Charcot-Marie-Tooth Disease, Axonal, Type 2ee

CMT2EE

Charcot-Marie-Tooth Neuropathy, Type 2ee

Charcot-Marie-Tooth Disease Type 2ee

Charcot-Marie-Tooth Disease, Axonal, 2ee
Leukodystrophy

Leukodystrophies
Human Monocytic Ehrlichiosis

Ehrlichiosis Chafeensis

Hme

Human Ehrlichial Infection, Human Monocytic Type
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
L-2-Hydroxyglutaric Aciduria

L-2-Hydroxyglutaric Acidemia

L2HGA

L-2-Hga

Aciduria, L-2-Hydroxyglutaric

Combined D-2- And L-2-Hydroxyglutaric Aciduria
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-RS02945 COA8 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus COA8 RGD RGD:1304719
Felis catus COA8 VGNC VGNC:81014
Mus musculus COA8 MGD MGI:1915270
Canis familiaris COA8 VGNC VGNC:53488
Bos taurus COA8 VGNC VGNC:26037
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