1. Gene
  2. SCO1 - synthesis of cytochrome C oxidase 1 Gene

SCO1 - synthesis of cytochrome C oxidase 1 Gene

中文名称:细胞色素 C 氧化酶 1 的合成

种属: Homo sapiens

同用名: SCOD1; MC4DN4

基因 ID: 6341 | 基因类型: protein coding

关于 SCO1

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:10,672,474-10,697,533 (from NCBI)

This gene has 5 transcripts (splice variants), 214 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in colon (RPKM 11.6), kidney (RPKM 11.1) and 25 other tissues.

功能概要

哺乳动物细胞色素 c 氧化酶 (COX) 催化还原当量从细胞色素 c 转移到分子氧,并泵送质子穿过线粒体内膜。在酵母中,2 个相关的 COX 组装基因 SCO1 和 SCO2 (细胞色素 c 氧化酶的合成) 使亚基 1 和 2 能够整合到全蛋白中。该基因是酵母 SCO1 基因的人类同系物。[RefSeq 提供,2008 年 7 月]

Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]

SCO1 基因产物(1)

mRNA Protein Name
NM_004589.4 NP_004580.1 protein SCO1 homolog, mitochondrial
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
18458339 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
15229189 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
located in myofibril IDA
IDA: 通过直接分析推断
20864674 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

SCO1 蛋白结构

SCO1-SenC

SCO1-SenC: SCO1/SenC (124 - 277)

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

protein SCO1 homolog, mitochondrial

SCO cytochrome c oxidase assembly protein 1

SCO1 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
SCO1 O75880 CIDEB Homo sapiens Q9UHD4 32296183
种属内
SCO1 O75880 CIDEB Homo sapiens Q9UHD4 32296183
种属内
SCO1 O75880 CIDEB Homo sapiens Q9UHD4 32296183
种属内
SCO1 O75880 COX17 Homo sapiens Q14061 18458339
种属内
SCO1 O75880 COX17 Homo sapiens Q14061 29568061
种属内
SCO1 O75880 COX17 Homo sapiens Q14061
NMR
18458339
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SCO1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71040 SCO1 Protein, Human (GST) O75880 (G132-S301) ≥95%

关联疾病

疾病名称 别名
Mitochondrial Complex Iv Deficiency, Nuclear Type 4

MC4DN4

Mitochondrial Complex 4 Deficiency, Nuclear Type 4

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

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

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

Metabolic Acidosis
Mitochondrial Dna Depletion Syndrome 9

MTDPS9

Fatal Infantile Lactic Acidosis

Lactic Acidosis, Fatal Infantile, Formerly

Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome, Type 9

Lactic Acidosis, Fatal Infantile

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

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

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

直系同源

种属 基因名 来源 基因 ID
Felis catus SCO1 VGNC VGNC:64932
Macaca mulatta SCO1 VGNC VGNC:76995
Rattus norvegicus SCO1 RGD RGD:1559538
Bos taurus SCO1 VGNC VGNC:34359
Canis familiaris SCO1 VGNC VGNC:45929
Mus musculus SCO1 MGD MGI:106362
Others SCO1 NCBI