1. Gene
  2. NDUFS3 - NADH:ubiquinone oxidoreductase core subunit S3 Gene

NDUFS3 - NADH:ubiquinone oxidoreductase core subunit S3 Gene

中文名称:NADH:泛醌氧化还原酶核心亚基 S3

种属: Homo sapiens

同用名: CI-30; MC1DN8

基因 ID: 4722 | 基因类型: protein coding

关于 NDUFS3

Cytogenetic location: 11p11.2 Genomic coordinates (GRCh38): 11:47,579,074-47,584,562 (from NCBI)

This gene has 15 transcripts (splice variants), 1 gene allele, 214 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 45.6), duodenum (RPKM 44.2) and 25 other tissues.

功能概要

该基因编码线粒体 NADH 的一种铁硫蛋白 (IP) 成分:泛醌氧化还原酶 (复合物 I) 。该基因的突变与由线粒体复合物 I 缺陷引起的 Leigh 综合征有关。[RefSeq 提供,2009 年 4 月]

This gene encodes one of the iron-sulfur protein (IP) components of mitochondrial NADH:ubiquinone oxidoreductase (complex I). Mutations in this gene are associated with Leigh syndrome resulting from mitochondrial complex I deficiency.[provided by RefSeq, Apr 2009]

NDUFS3 基因产物(1)

mRNA Protein Name
NM_004551.3 NP_004542.1 NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial precursor
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
contributes to NADH dehydrogenase (ubiquinone) activity IMP
IMP: 通过突变表型推断
30140060 GOA
enables NADH dehydrogenase (ubiquinone) activity IMP
IMP: 通过突变表型推断
14729820 GOA
enables NADH dehydrogenase activity IMP
IMP: 通过突变表型推断
11112787 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15250827 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial electron transport, NADH to ubiquinone IMP
IMP: 通过突变表型推断
14729820 GOA
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: 通过突变表型推断
30140060 GOA
involved in reactive oxygen species metabolic process IMP
IMP: 通过突变表型推断
16826196 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
18826940 GOA
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
17209039 GOA
part of respiratory chain complex I IDA
IDA: 通过直接分析推断
12611891 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

NDUFS3 蛋白结构

Complex1_30kDa

Complex1_30kDa: Respiratory-chain NADH dehydrogenase, 30 Kd subunit (96 - 200)

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

NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial

CI-30kD

NDUFS3 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 NDUFS3 O75489 NDUFS2 Homo sapiens O75306
Anti Bait CoIP
15250827
Intra NDUFS3 O75489 NDUFS2 Homo sapiens O75306
Anti Tag CoIP
24344204
Intra NDUFS3 O75489 NDUFS2 Homo sapiens O75306
BN-PAGE
19688755
Intra NDUFS3 O75489 NDUFS2 Homo sapiens O75306
Anti Tag CoIP
33961781
Intra NDUFS3 O75489 NDUFS2 Homo sapiens O75306
Anti Tag CoIP
27499296
Intra NDUFS3 O75489 NDUFS2 Homo sapiens O75306
Anti Tag CoIP
28514442
Intra NDUFS3 O75489 NDUFA8 Homo sapiens P51970
BN-PAGE
21310150
Intra NDUFS3 O75489 NDUFA8 Homo sapiens P51970
Anti Tag CoIP
27499296
Intra NDUFS3 O75489 TMEM11 Homo sapiens P17152
Validated Y2H
32296183
Intra NDUFS3 O75489 NDUFA5 Homo sapiens Q16718
Y2H Array
32296183
Intra NDUFS3 O75489 NDUFA5 Homo sapiens Q16718
Anti Tag CoIP
24344204
Intra NDUFS3 O75489 NDUFA5 Homo sapiens Q16718
Anti Tag CoIP
27499296
Intra NDUFS3 O75489 NDUFA5 Homo sapiens Q16718
Validated Y2H
32296183
Intra NDUFS3 O75489 NDUFA5 Homo sapiens Q16718
Y2H Prey Pooling
32296183
Intra NDUFS3 O75489 NDUFA5 Homo sapiens Q16718
Anti Tag CoIP
33961781
Intra NDUFS3 O75489 NDUFA5 Homo sapiens Q16718
Anti Tag CoIP
28514442
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
Mitochondrial Complex I Deficiency, Nuclear Type 8

MC1DN8

Mitochondrial Complex 1 Deficiency, Nuclear Type 8

Nuclear Type Mitochondrial Complex I Deficiency 8

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

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

Parathyroid Oncocytic Adenoma

Parathyroid Gland Oncocytic Adenoma

Cardiomyopathy, Familial Hypertrophic, 16

Hypertrophic Cardiomyopathy 16

CMH16

Cardiomyopathy, Hypertrophic, 16

Cardiomyopathy Familial Hypertrophic 16

Cardiomyopathy, Familial Hypertrophic 16

Cardiomyopathy, Hypertrophic, Familial, Type 16

Cardiomyopathy, Familial Hypertrophic, 18

Hypertrophic Cardiomyopathy 18

CMH18

Cardiomyopathy, Hypertrophic, 18

Cardiomyopathy Familial Hypertrophic 18

Cardiomyopathy, Familial Hypertrophic 18

Cardiomyopathy, Hypertrophic, Familial, Type 18

Cardiomyopathy, Familial Hypertrophic, 17

Hypertrophic Cardiomyopathy 17

CMH17

Cardiomyopathy, Hypertrophic, 17

Cardiomyopathy Familial Hypertrophic 17

Cardiomyopathy, Familial Hypertrophic 17

Cardiomyopathy, Hypertrophic, Familial, Type 17

Leukodystrophy

Leukodystrophies

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

Myopathy

Muscular Diseases

Myopathies

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
Macaca mulatta NDUFS3 VGNC VGNC:101366
Felis catus NDUFS3 VGNC VGNC:104315
Mus musculus NDUFS3 MGD MGI:1915599
Rattus norvegicus NDUFS3 RGD RGD:1309406
Bos taurus NDUFS3 VGNC VGNC:50228
Canis familiaris NDUFS3 VGNC VGNC:43708