2. Gene
  3. COX4I1 - cytochrome c oxidase subunit 4I1 Gene

COX4I1 - cytochrome c oxidase subunit 4I1 Gene

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

中文名称：细胞色素 c 氧化酶亚基 4I1

种属: Homo sapiens

同用名: COX4; COXIV; COX4-1; COXIV-1; MC4DN16; COX IV-1

基因 ID: 1327 | 基因类型: protein coding

关于 COX4I1

Cytogenetic location: 16q24.1 Genomic coordinates (GRCh38): 16:85,799,695-85,807,068 (from NCBI)

This gene has 18 transcripts (splice variants), 213 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 267.7), duodenum (RPKM 151.5) 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酶。它是一种多亚基酶复合物，可将电子从细胞色素 c 转移到分子氧，并促进穿过线粒体内膜的质子电化学梯度。该复合体由 13 个线粒体和核编码的亚基组成。线粒体编码的亚基执行电子转移和质子泵送活动。核编码亚基的功能未知，但它们可能在复合体的调节和组装中发挥作用。该基因编码人线粒体呼吸链酶的核编码亚基 IV 亚型 1。它以头对头的方向位于 NOC4 (COX4 的邻居) 基因的 3'，并与其共享一个启动子。与该基因相关的假基因位于 13 号和 14 号染色体上。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2016 年 1 月]

Cytochrome c oxidase (COX) is the terminal Enzyme of the mitochondrial respiratory chain. It is a multi-subunit Enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit IV isoform 1 of the human mitochondrial respiratory chain Enzyme. It is located at the 3' of the NOC4 (neighbor of COX4) gene in a head-to-head orientation, and shares a promoter with it. Pseudogenes related to this gene are located on chromosomes 13 and 14. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

COX4I1 基因产物(6)

mRNA Protein Name
NM_001318786.3 NP_001305715.1 cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 1 precursor
NM_001318788.2 NP_001305717.1 cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 2 precursor
NM_001318794.2 NP_001305723.1 cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 3 precursor
NM_001318797.3 NP_001305726.1 cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 4
NM_001318802.2 NP_001305731.1 cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 5
NM_001861.6 NP_001852.1 cytochrome c oxidase subunit 4 isoform 1, mitochondrial isoform 1 precursor

COX4I1 蛋白结构

COX4

COX4: Cytochrome c oxidase subunit IV (27 - 168)

  • 0
  • 100
  • 169 a.a.
蛋白主名 其他名称

cytochrome c oxidase subunit 4 isoform 1, mitochondrial

cytochrome c oxidase polypeptide IV

重组 COX4I1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P72150 COX4I1 Protein, Human (His-SUMO) P13073 (A23-K169) ≥95%

关联疾病

疾病名称 别名
Mitochondrial Complex Iv Deficiency, Nuclear Type 16

MC4DN16

Mitochondrial Complex 4 Deficiency, Nuclear Type 16
Isolated Cytochrome C Oxidase Deficiency

Isolated Cox Deficiency

Isolated Mitochondrial Respiratory Chain Complex Iv 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
Exocrine Pancreatic Insufficiency
Microcephaly 7, Primary, Autosomal Recessive

MCPH7

Primary Autosomal Recessive Microcephaly 7

Microcephaly, Primary Autosomal Recessive, 7
Hyperostosis

Hypertrophy Of Bone

Bone Hypertrophy

Bone Thickening

Periosteum Thickening
Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders
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
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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-RS03064 COX4I1 Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus COX4I1 MGD MGI:88473
Bos taurus COX4I1 VGNC VGNC:27634
Rattus norvegicus COX4I1 RGD RGD:68374
Canis familiaris COX4I1 VGNC VGNC:39539
Macaca mulatta COX4I1 VGNC VGNC:99503
Others COX4I1 NCBI
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