1. Gene
  2. NDUFS1 - NADH:ubiquinone oxidoreductase core subunit S1 Gene

NDUFS1 - NADH:ubiquinone oxidoreductase core subunit S1 Gene

中文名称:NADH:泛醌氧化还原酶核心亚基 S1

种属: Homo sapiens

同用名: CI-75k; MC1DN5; CI-75Kd; PRO1304

基因 ID: 4719 | 基因类型: protein coding

关于 NDUFS1

Cytogenetic location: 2q33.3 Genomic coordinates (GRCh38): 2:206,114,817-206,159,444 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 268 orthologues, 2 paralogues and is associated with 5 phenotypes. Ubiquitous expression in heart (RPKM 52.2), kidney (RPKM 30.3) and 24 other tissues.

功能概要

该基因编码的蛋白质属于复杂的 I 75 kDa 亚基家族。哺乳动物复合体 I 由 45 个不同的亚基组成。它位于线粒体内膜。该蛋白具有 NADH 脱氢酶活性和氧化还原酶活性。它将电子从 NADH 转移到呼吸链。该酶的直接电子受体被认为是泛醌。这种蛋白质是复合物 I 的最大亚基,它是该酶的铁硫 (IP) 片段的组成部分。它可能形成 NADH 被氧化的活性位点缝隙的一部分。该基因的突变与复合物 I 缺陷有关。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2011 年 1 月]

The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

NDUFS1 基因产物(5)

mRNA Protein Name
NM_001199981.2 NP_001186910.1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 2 precursor
NM_001199982.2 NP_001186911.1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 3
NM_001199983.2 NP_001186912.1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 4
NM_001199984.2 NP_001186913.1 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 5
NM_005006.7 NP_004997.4 NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial isoform 1 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
15824269 GOA
enables NADH dehydrogenase (ubiquinone) activity IMP
IMP: 通过突变表型推断
30879903 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15186778 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular respiration IMP
IMP: 通过突变表型推断
15186778 GOA
involved in mitochondrial electron transport, NADH to ubiquinone IMP
IMP: 通过突变表型推断
31557978 GOA
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: 通过突变表型推断
16478720 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
28844695 GOA
located in mitochondrial intermembrane space IDA
IDA: 通过直接分析推断
15186778 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
30879903 GOA
part of respiratory chain complex I IDA
IDA: 通过直接分析推断
12611891 GOA
part of respiratory chain complex I IMP
IMP: 通过突变表型推断
16478720 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

NDUFS1 蛋白结构

Fer2_4

Fer2_4: 2Fe-2S iron-sulfur cluster binding domain (31 - 106)

NADH-G_4Fe-4S_3

NADH-G_4Fe-4S_3: NADH-ubiquinone oxidoreductase-G iron-sulfur binding region (113 - 153)

Molybdopterin

Molybdopterin: Molybdopterin oxidoreductase (301 - 628)

NADH_dhqG_C

NADH_dhqG_C: NADH-ubiquinone oxidoreductase subunit G, C-terminal (657 - 710)

  • 0
  • 200
  • 400
  • 600
  • 727 a.a.
蛋白主名 其他名称

NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial

NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)

NDUFS1 抗体

目录号 产品名 应用 反应物种
HY-P82790 NDUFS1 Antibody (YA2535) WB, IHC-P, ICC/IF, IP, FC Human, Mouse, Rat

关联疾病

疾病名称 别名
Mitochondrial Complex V Deficiency, Nuclear Type 1

MC5DN1

MC1DN5

Mitochondrial Complex V Deficiency, Atpaf2 Type

Mitochondrial Complex I Deficiency, Nuclear Type 5

Atpase Deficiency

Mitochondrial Complex 1 Deficiency, Nuclear Type 5

Nuclear Type Mitochondrial Complex I Deficiency 5

Mitochondrial Complex V Deficiency, Nuclear Type 1

Atpaf2 Deficiency

Atp Synthase Deficiency

Complex 5 Mitochondrial Respiratory Chain Deficiency

Complex V Mitochondrial Respiratory Chain Deficiency

Mitochondrial Complex V Deficiency Type 1

Mitochondrial Complex V Deficiency, Nuclear, Type 1

Complex V Deficiency

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

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

Spastic Paraplegia 25, Autosomal Recessive

SPG25

Hereditary Spastic Paraplegia 25

Autosomal Recessive Spastic Paraplegia Type 25

Spastic Paraplegia 25

Disc Herniation With Spastic Paraplegia, Autosomal Recessive

Autosomal Recessive Spastic Paraplegia 25

Spinal Disc Herniation With Autosomal Recessive Spastic Paraplegia

Autosomal Recessive Spastic Paraplegia-Disc Herniation Syndrome

Liver Disease

Liver Failure

Liver Diseases

Abnormality Of The Liver

Liver Dysfunction

Disorder Of Liver

Hepatic Disorder

Hepatic Disease

Disease Of Bilirubin Metabolism

Disorder Of Bilirubin Metabolism

Liver Decompensation

Liver Function Failure

Hepatic Failure Nos

Liver Failure Nos

End Stage Liver Disease

Decompensated Liver Failure

Decompensation Of Liver Function

Hepatic Decompensation

Hepatic Insufficiency

Liver Cell Necrosis With Hepatic Failure

Liver Insufficiency

Decompensated Liver Disease

End Stage Liver Failure

Liver Necrosis With Hepatic Failure

Leukodystrophy, Hypomyelinating, 5

Hypomyelination And Congenital Cataract

HLD5

Hypomyelination-Congenital Cataract Syndrome

Hypomyelinating Leukodystrophy 5

Hcc

Hypomyelination And Congenital Cataract: Hcc

Hypomyelination - Congenital Cataract

Hypomyelination With Congenital Cataract

Leukodystrophy

Leukodystrophies

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

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

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

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
Canis familiaris NDUFS1 VGNC VGNC:57390
Mus musculus NDUFS1 MGD MGI:2443241
Bos taurus NDUFS1 VGNC VGNC:56131
Macaca mulatta NDUFS1 VGNC VGNC:75161
Felis catus NDUFS1 VGNC VGNC:68444
Rattus norvegicus NDUFS1 RGD RGD:1359670