1. Gene
  2. NDUFAF4 - NADH:ubiquinone oxidoreductase complex assembly factor 4 Gene

NDUFAF4 - NADH:ubiquinone oxidoreductase complex assembly factor 4 Gene

中文名称:NADH:泛醌氧化还原酶复合物装配因子 4

种属: Homo sapiens

同用名: My013; C6orf66; HRPAP20; HSPC125; MC1DN15; bA22L21.1

基因 ID: 29078 | 基因类型: protein coding

关于 NDUFAF4

Cytogenetic location: 6q16.1 Genomic coordinates (GRCh38): 6:96,889,315-96,897,891 (from NCBI)

This gene has 3 transcripts (splice variants), 205 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 11.9), brain (RPKM 11.8) and 25 other tissues.

功能概要

NADH:泛醌氧化还原酶 (复合物 I) 在线粒体呼吸链的第一步中催化电子从 NADH 转移到泛醌 (辅酶 Q) ,导致质子跨线粒体内膜易位。该基因编码一个复杂的 I 装配因子。该基因的突变是线粒体复合物 I 缺乏的原因。[RefSeq 提供,2009 年 10 月]

NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene are a cause of mitochondrial complex I deficiency. [provided by RefSeq, Oct 2009]

NDUFAF4 基因产物(1)

mRNA Protein Name
NM_014165.4 NP_054884.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
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
19463981 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in defense response to virus IMP
IMP: 通过突变表型推断
33635491 GOA
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: 通过突变表型推断
18179882 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
19463981 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
18179882 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

NDUFAF4 蛋白结构

UPF0240

UPF0240: Uncharacterised protein family (UPF0240) (1 - 175)

  • 0
  • 100
  • 175 a.a.
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4

NDUFAF4 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
NDUFAF4 Q9P032 NDUFAF3 Homo sapiens Q9BU61-2
Y2H Prey Pooling
25416956
种属内
NDUFAF4 Q9P032 NDUFAF3 Homo sapiens Q9BU61-2
Validated Y2H
25910212
种属内
NDUFAF4 Q9P032 NDUFAF3 Homo sapiens Q9BU61-2
Y2H Array
25910212
种属内
NDUFAF4 Q9P032 NDUFAF3 Homo sapiens Q9BU61-2
Y2H Array
25416956
种属内
NDUFAF4 Q9P032 NDUFAF3 Homo sapiens Q9BU61-2
Y2H Bait-Prey Pool
25910212
种属内
NDUFAF4 Q9P032 NDUFAF3 Homo sapiens Q9BU61
Anti Tag CoIP
27499296
种属内
NDUFAF4 Q9P032 NDUFAF3 Homo sapiens Q9BU61
Y2H Prey Pooling
32296183
种属内
NDUFAF4 Q9P032 NDUFAF3 Homo sapiens Q9BU61
Y2H Array
32296183
种属内
NDUFAF4 Q9P032 NDUFAF3 Homo sapiens Q9BU61
Anti Tag CoIP
33961781
种属内
NDUFAF4 Q9P032 WFS1 Homo sapiens O76024
Y2H Array
32814053
种属内
NDUFAF4 Q9P032 WFS1 Homo sapiens O76024
Validated Y2H
32814053
种属内
NDUFAF4 Q9P032 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
种属内
NDUFAF4 Q9P032 GRN Homo sapiens P28799
Validated Y2H
32814053
种属内
NDUFAF4 Q9P032 GRN Homo sapiens P28799
Y2H Array
32814053
种属内
NDUFAF4 Q9P032 GRN Homo sapiens P28799
Y2H Pooling
32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

NDUFAF4 抗体

目录号 产品名 应用 反应物种
HY-P83557 NDUFAF4 Antibody (YA3302) WB, ICC/IF, IP Human

关联疾病

疾病名称 别名
Mitochondrial Complex I Deficiency, Nuclear Type 15

MC1DN15

Mitochondrial Complex 1 Deficiency, Nuclear Type 15

Nuclear Type Mitochondrial Complex I Deficiency 15

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

Stomatitis
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

Charcot-Marie-Tooth Disease, Type 4k

Charcot-Marie-Tooth Disease Type 4k

CMT4K

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k

Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k

Surf1-Related Charcot-Marie-Tooth Disease Type 4

Surf1-Related Cmt4

Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k

Charcot-Marie-Tooth Disease 4k

Charcot-Marie-Tooth Disease, Demyelinating, Type 4k

Charcot-Marie-Tooth Neuropathy, Type 4k

Leukodystrophy

Leukodystrophies

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

Myopathy

Muscular Diseases

Myopathies

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

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 NDUFAF4 VGNC VGNC:102475
Mus musculus NDUFAF4 MGD MGI:1915743
Macaca mulatta NDUFAF4 VGNC VGNC:74997
Bos taurus NDUFAF4 VGNC VGNC:31956
Rattus norvegicus NDUFAF4 RGD RGD:735162
Canis familiaris NDUFAF4 VGNC VGNC:43694