2. Gene
  3. COX18 - cytochrome c oxidase assembly factor COX18 Gene

COX18 - cytochrome c oxidase assembly factor COX18 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 COX18

种属: Homo sapiens

同用名: OXA1L2; COX18HS

基因 ID: 285521 | 基因类型: protein coding

关于 COX18

Cytogenetic location: 4q13.3 Genomic coordinates (GRCh38): 4:73,052,362-73,069,759 (from NCBI)

This gene has 5 transcripts (splice variants), 199 orthologues and 1 paralogue. Ubiquitous expression in kidney (RPKM 3.3), adrenal (RPKM 2.9) and 25 other tissues.

功能概要

该基因编码细胞色素 c 氧化酶组装蛋白。编码的蛋白质对于整合膜蛋白插入线粒体内膜至关重要。它也是细胞色素 c 氧化酶组装和活性所必需的。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 7 月]

This gene encodes a cytochrome c oxidase assembly protein. The encoded protein is essential for integral membrane protein insertion into the mitochondrial inner membrane. It is also required for cytochrome c oxidase assembly and activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

COX18 基因产物(4)

mRNA Protein Name
NM_001297732.2 NP_001284661.1 cytochrome c oxidase assembly protein COX18, mitochondrial isoform 1
NM_001297733.2 NP_001284662.1 cytochrome c oxidase assembly protein COX18, mitochondrial isoform 3
NM_001300729.1 NP_001287658.1 cytochrome c oxidase assembly protein COX18, mitochondrial isoform 4
NM_173827.4 NP_776188.1 cytochrome c oxidase assembly protein COX18, mitochondrial isoform 2
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 membrane insertase activity EXP
EXP: 通过实验结果推断
28330871 GOA
enables membrane insertase activity IDA
IDA: 通过直接分析推断
28330871 GOA
enables membrane insertase activity IGI
IGI: 通过遗传相互作用推断
16911509 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28330871 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
28330871 GOA
involved in protein insertion into mitochondrial inner membrane from matrix IDA
IDA: 通过直接分析推断
28330871 GOA
involved in protein insertion into mitochondrial membrane IGI
IGI: 通过遗传相互作用推断
16911509 GOA
involved in respiratory chain complex IV assembly IGI
IGI: 通过遗传相互作用推断
16911509 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
16212937 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

COX18 蛋白结构

60KD_IMP

60KD_IMP: 60Kd inner membrane protein (82 - 299)

  • 0
  • 100
  • 200
  • 300
  • 333 a.a.
蛋白主名 其他名称

cytochrome c oxidase assembly protein COX18, mitochondrial

COX18, cytochrome c oxidase assembly factor

关联疾病

疾病名称 别名
Trench Fever

His-Werner Disease

Quintan Fever

Shin Bone Fever

Wolhynian Fever

Tibialgic Fever

Bartonellosis Due To Bartonella Quintana Infection

Febris Quintata

Five Day Fever

Fever Due To Rickettsia Quintana

Febris Quintana

Fever Due To Bartonella Quintana

Fever Due To Rochalimaea Quintana

Meuse Fever
Indian Tick Typhus
Waardenburg Syndrome, Type 4b

Waardenburg Syndrome Type 4b

WS4B

Waardenburg Syndrome Type Ivb

Waardenburg Syndrome With Hirschsprung Disease Type 4b

Waardenburg Syndrome, Type 4b, With Hirschsprung Disease

Waardenburg Syndrome, Type Ivb

Waardenburg Syndrome 4b

Hirschsprung Disease With Pigmentary Anomaly

Shah-Waardenburg Syndrome

Waardenburg-Shah Syndrome

Waardenburg Syndrome, Type 4a
Pediculus Humanus Capitis Infestation

Pediculosis Capitis

Pediculus Capitis Infestation

Head Louse Infestation

Pediculus Capitis

Head-Louse Infestation

Head Lice

Infestation By Pediculus Capitis
Bacillary Angiomatosis

Angiomatosis, Bacillary
Raynaud-Claes Syndrome

Mrx49

MRXSRC

Mental Retardation, X-Linked 49

Mrx15

Clcn4-Related X-Linked Intellectual Disability Syndrome

Mental Retardation, X-Linked 15

X-Linked Mental Retardation 15

X-Linked Mental Retardation 49

Mental Retardation, X-Linked-49
Lice Infestation

Pediculosis

Louse Infestation

Mixed Pediculosis

Lice Infestations

Infestation By Pediculus

Mixed Pediculosis Infestation

Pediculosis + Lice

Pediculosis And Phthirus Infection

Pediculosis And Phthirus Infections

Pediculosis And Phthirus Infestation

Infestation By Anoplura

Pediculus Infestation

Lice Nos
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-RS03061 COX18 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 COX18 RGD RGD:1559547
Macaca mulatta COX18 VGNC VGNC:71591
Felis catus COX18 VGNC VGNC:78472
Canis familiaris COX18 VGNC VGNC:39537
Mus musculus COX18 MGD MGI:2448532
Bos taurus COX18 VGNC VGNC:53697
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