2. Gene
  3. COX11 - cytochrome c oxidase copper chaperone COX11 Gene

COX11 - cytochrome c oxidase copper chaperone COX11 Gene

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

中文名称：细胞色素 c 氧化酶铜伴侣 COX11

种属: Homo sapiens

同用名: COX11P

基因 ID: 1353 | 基因类型: protein coding

关于 COX11

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:54,951,902-54,968,785 (from NCBI)

This gene has 9 transcripts (splice variants), 212 orthologues and 1 paralogue. Ubiquitous expression in duodenum (RPKM 10.0), kidney (RPKM 6.9) 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。根据酵母突变体研究，该核基因编码的蛋白质不是结构亚基，但可能是参与 COX 形成的血红素 A 生物合成酶。然而，对球形红细菌的研究表明，该基因不是血红素 A 生物合成所必需的，但对于 COX 的铜 (B) 和镁中心的稳定形成是必需的。预计这种人类蛋白质含有位于线粒体内膜中的跨膜结构域。已发现该基因编码不同异构体的多个转录变体。在 6 号染色体上发现了一个相关的假基因。[RefSeq 提供，2009 年 6 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 a heme A biosynthetic Enzyme involved in COX formation, according to the yeast mutant studies. However, the studies in Rhodobacter sphaeroides suggest that this gene is not required for heme A biosynthesis, but required for stable formation of the Cu(B) and magnesium centers of COX. This human protein is predicted to contain a transmembrane domain localized in the mitochondrial inner membrane. Multiple transcript variants encoding different isoforms have been found for this gene. A related pseudogene has been found on chromosome 6. [provided by RefSeq, Jun 2009]

COX11 基因产物(4)

mRNA Protein Name
NM_001162861.2 NP_001156333.1 cytochrome c oxidase assembly protein COX11, mitochondrial isoform 2
NM_001162862.2 NP_001156334.1 cytochrome c oxidase assembly protein COX11, mitochondrial isoform 3
NM_001321518.1 NP_001308447.1 cytochrome c oxidase assembly protein COX11, mitochondrial isoform 4
NM_004375.5 NP_004366.1 cytochrome c oxidase assembly protein COX11, mitochondrial 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
15840172 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ATP biosynthetic process IMP
IMP: 通过突变表型推断
36030551 GOA
involved in intracellular monoatomic cation homeostasis IDA
IDA: 通过直接分析推断
15840172 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
15229189 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
9878253 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
15840172 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

COX11 蛋白结构

CtaG_Cox11

CtaG_Cox11: Cytochrome c oxidase assembly protein CtaG/Cox11 (113 - 263)

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

cytochrome c oxidase assembly protein COX11, mitochondrial

COX11 homolog, cytochrome c oxidase assembly protein

COX11 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
种属内
COX11 Q9Y6N1 COA4 Homo sapiens Q9NYJ1
Anti Tag CoIP
33961781
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
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation

Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability

COB1

Coloboma-Microphthalmos Syndrome

Coloboma-Microphthalmos Syndrome Associated With Sensorineural Hearing Loss, Hematuria, And Cleft Lip/Palate

Coloboma, Cleft Lip-Palate And Mental Retardation Syndrome

Ocular Coloboma With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation

Uveal Coloboma-Cleft Lip/Palate-Mental Retardation Syndrome

Uveal Coloboma-Cleft Lip/Palate-Intellectual Disability Syndrome

Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Intellectual Disability

Coloboma, Ocular, With/Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
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
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
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

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-RS03057 COX11 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus COX11 VGNC VGNC:98899
Mus musculus COX11 MGD MGI:1917052
Bos taurus COX11 VGNC VGNC:55805
Rattus norvegicus COX11 RGD RGD:9174727
Macaca mulatta COX11 VGNC VGNC:81377
Canis familiaris COX11 VGNC VGNC:55720
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