COX17 - cytochrome c oxidase copper chaperone COX17 Gene

中文名称：细胞色素 c 氧化酶铜伴侣 COX17

种属: Homo sapiens

基因 ID: 10063 | 基因类型: protein coding

关于 COX17

Cytogenetic location: 3q13.33 Genomic coordinates (GRCh38): 3:119,663,975-119,677,406 (from NCBI)

This gene has 7 transcripts (splice variants) and 105 orthologues. Ubiquitous expression in heart (RPKM 52.4), adrenal (RPKM 37.4) and 25 other tissues.

功能概要

细胞色素 c 氧化酶 (COX) 是线粒体呼吸链的末端组分，它催化电子从还原的细胞色素 c 转移到氧气。该组分是由线粒体基因编码的 3 个催化亚基和核基因编码的多个结构亚基组成的异聚复合物。线粒体编码的亚基在电子传递中起作用，而核编码的亚基可能在复合物的调节和组装中起作用。该核基因编码的蛋白质不是结构亚基，但可能参与将铜募集到线粒体以掺入 COX 辅酶。该蛋白与小鼠和大鼠 Cox17 蛋白具有 92% 的氨基酸序列同一性。该基因不再被认为是 COX 缺陷的候选基因。在 13 号染色体上发现了假基因 COX17P。[RefSeq 提供，2008 年 7 月]

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be involved in the recruitment of copper to mitochondria for incorporation into the COX apoenzyme. This protein shares 92% amino acid sequence identity with mouse and rat Cox17 proteins. This gene is no longer considered to be a candidate gene for COX deficiency. A pseudogene COX17P has been found on chromosome 13. [provided by RefSeq, Jul 2008]

COX17 基因产物(3)

mRNA	Protein	Name
NM_001382002.1	NP_001368931.1	cytochrome c oxidase copper chaperone isoform a
NM_001382003.1	NP_001368932.1	cytochrome c oxidase copper chaperone isoform b
NM_005694.2	NP_005685.1	cytochrome c oxidase copper chaperone isoform b

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 copper chaperone activity	IMP IMP: 通过突变表型推断	19393246	GOA
enables cuprous ion binding	IDA IDA: 通过直接分析推断	18093982	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16189514	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	19393246	GOA
involved in positive regulation of cell population proliferation	IMP IMP: 通过突变表型推断	19393246	GOA
involved in positive regulation of cytochrome-c oxidase activity	IMP IMP: 通过突变表型推断	19393246	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	19393246	GOA
located in mitochondrial intermembrane space	IDA IDA: 通过直接分析推断	19393246	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

COX17 蛋白结构

COX17

0
63 a.a.

蛋白主名

其他名称

cytochrome c oxidase copper chaperone

COX17 cytochrome c oxidase assembly homolog

COX17 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
Intra	COX17	Q14061	KRTAP10-8	Homo sapiens	P60410	Y2H Prey Pooling	32296183
Intra	COX17	Q14061	KRTAP10-8	Homo sapiens	P60410	Y2H Array	32296183
Intra	COX17	Q14061	SPRED1	Homo sapiens	Q7Z699	Validated Y2H	32814053
Intra	COX17	Q14061	SPRED1	Homo sapiens	Q7Z699	Y2H Pooling	32814053
Intra	COX17	Q14061	SPRED1	Homo sapiens	Q7Z699	Y2H Array	32814053
Intra	COX17	Q14061	KATNAL1	Homo sapiens	Q9BW62	Y2H Pooling	16189514

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

Menkes Disease

Copper Transport Disease	Menkes Syndrome
MNK	Kinky Hair Disease
Steely Hair Disease	Menkes Kinky-Hair Syndrome
Mk	Steely Hair Syndrome
Menkea Syndrome	Md
Menkes Kinky Hair Syndrome	Hypocupremia, Congenital
Kinky Hair Syndrome	X-Linked Copper Deficiency
Menkes Kinky Hair Disease

Spinal Muscular Atrophy, Distal, X-Linked 3

SMAX3	Dsmax
X-Linked Distal Spinal Muscular Atrophy Type 3	X-Linked Distal Spinal Muscular Atrophy 3
Atp7a-Related Distal Motor Neuropathy	X-Linked Dhmn3
X-Linked Distal Hereditary Motor Neuropathy Type 3	X-Linked Dsma3
Spinal Muscular Atrophy, Distal, X-Linked Recessive	X-Linked Recessive Distal Spinal Muscular Atrophy
Distal Spinal Muscular Atrophy, X-Linked, 3	DSMAX3
Spinal Muscular Atrophy Distal X-Linked Recessive	Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3

Occipital Horn Syndrome

OHS	Eds Ix
Cutis Laxa X-Linked	Cutis Laxa, X-Linked
Cutis Laxa, X-Linked, Formerly	Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly
Eds Ix, Formerly	Eds9, Formerly
Ehlers-Danlos Syndrome Type 9	Ehlers-Danlos Syndrome Type Ix
X-Linked Cutis Laxa	Ehlers-Danlos Syndrome, Occipital Horn Type
Eds9	Ehlers-Danlos Syndrome Occipital Horn Type

Wilson Disease

Hepatolenticular Degeneration	WD
Wilson'S Disease	WND
Westphal-Strumpell Syndrome	Copper Storage Disease
Cerebral Pseudosclerosis	Westphal Pseudosclerosis
Hepatolenticular Degeneration Syndrome	Copper Retention
Hepatocerebral Degeneration	Kinnier-Wilson Disease
Neurohepatic Degeneration	Progressive Hepatolenticular Degeneration
Lenticular Degenerative Disease	Wilson'S Syndrome
Lenticular Syndrome

Metal Metabolism Disorder

Metal Metabolism, Inborn Errors

Inborn Metal Metabolism Disorder

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

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

Aceruloplasminemia

Cerebellar Ataxia	Hypoceruloplasminemia
Hemosiderosis, Systemic, Due To Aceruloplasminemia	Familial Apoceruloplasmin Deficiency
Hereditary Ceruloplasmin Deficiency	Deficiency Of Ferroxidase
Hypoceruloplasminemia, Hereditary	Ceruloplasmin Deficiency
Systemic Hemosiderosis Due To Aceruloplasminemia	ACERULOP

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

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

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS03060	COX17 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	COX17	RGD	RGD:620548
Felis catus	COX17	VGNC	VGNC:61107
Canis familiaris	COX17	VGNC	VGNC:39536
Mus musculus	COX17	MGD	MGI:1333806
Macaca mulatta	COX17	VGNC	VGNC:84193
Bos taurus	COX17	VGNC	VGNC:27631

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