1. Gene
  2. NDUFAF6 - NADH:ubiquinone oxidoreductase complex assembly factor 6 Gene

NDUFAF6 - NADH:ubiquinone oxidoreductase complex assembly factor 6 Gene

中文名称:NADH:泛醌氧化还原酶复合物装配因子 6

种属: Homo sapiens

同用名: FRTS5; C8orf38; MC1DN17

基因 ID: 137682 | 基因类型: protein coding

关于 NDUFAF6

Cytogenetic location: 8q22.1 Genomic coordinates (GRCh38): 8:94,895,799-95,118,496 (from NCBI)

This gene has 33 transcripts (splice variants), 200 orthologues, 1 paralogue and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 1.4), testis (RPKM 1.4) and 25 other tissues.

功能概要

该基因编码一种定位于线粒体并包含预测的八氢番茄红素合酶结构域的蛋白质。编码的蛋白质通过调节亚基 ND1 生物发生,在线粒体呼吸链的复合物 I (NADH-泛醌氧化还原酶) 的组装中发挥重要作用。该基因的突变与复合物 I 酶缺乏有关。[RefSeq 提供,2011 年 11 月]

This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]

NDUFAF6 基因产物(20)

mRNA Protein Name
NM_001330582.2 NP_001317511.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2
NM_001354514.2 NP_001341443.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2
NM_001354515.2 NP_001341444.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2
NM_001354516.2 NP_001341445.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 3
NM_001354517.2 NP_001341446.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 4
NM_001354518.2 NP_001341447.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 4
NM_001354519.2 NP_001341448.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 4
NM_001354521.2 NP_001341450.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 5
NM_001354522.2 NP_001341451.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354524.2 NP_001341453.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354525.2 NP_001341454.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354527.2 NP_001341456.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354528.2 NP_001341457.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354529.2 NP_001341458.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354530.2 NP_001341459.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354531.2 NP_001341460.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354532.2 NP_001341461.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354533.2 NP_001341462.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 6
NM_001354534.2 NP_001341463.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 7
NM_152416.4 NP_689629.2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 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
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: 通过突变表型推断
22019594 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
22019594 GOA
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
22019594 GOA
located in nucleus IDA
IDA: 通过直接分析推断
22019594 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

NDUFAF6 蛋白结构

SQS_PSY

SQS_PSY: Squalene/phytoene synthase (65 - 310)

  • 0
  • 100
  • 200
  • 300
  • 333 a.a.
蛋白主名 其他名称

NADH dehydrogenase (ubiquinone) complex I, assembly factor 6

UPF0551 protein C8orf38, mitochondrial

关联疾病

疾病名称 别名
Mitochondrial Complex I Deficiency, Nuclear Type 17

MC1DN17

Mitochondrial Complex 1 Deficiency, Nuclear Type 17

Nuclear Type Mitochondrial Complex I Deficiency 17

Fanconi Renotubular Syndrome 5

FRTS5

Fanconi Renotubular Syndrome, Acadian Variant

Acadian-Variant Fanconi Syndrome

Fanconi Syndrome

Infantile Nephropathic Cystinosis

Adult Fanconi Syndrome

Congenital Fanconi Syndrome

De Toni-Fanconi Syndrome

Fanconi-De Toni Syndrome

Lignac-Fanconi Syndrome

Fanconi Renotubular Syndrome

Primary Fanconi Renotubular Syndrome

De Toni-Debre-Fanconi Syndrome

Adult Fanconi Anemia

Detoni Fanconi Syndrome

Fanconi-De-Toni Syndrome

Primary Fanconi Syndrome

Detoni-Debre-Fanconi Syndrome

Primary Fanconi Renal Syndrome

Fanconi Anemia

Cystinosis, Infantile Nephropathic

Fanconi-Bickel Syndrome

Renal Fanconi Syndrome

Lowe-Bickel Syndrome

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

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

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

Aminoaciduria
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

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Leukodystrophy

Leukodystrophies

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

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

Spastic Ataxia

Spax

Ataxia, Spastic

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 NDUFAF6 VGNC VGNC:75034
Bos taurus NDUFAF6 VGNC VGNC:31958
Rattus norvegicus NDUFAF6 RGD RGD:1309085
Mus musculus NDUFAF6 MGD MGI:1924197
Felis catus NDUFAF6 VGNC VGNC:63759
Canis familiaris NDUFAF6 VGNC VGNC:43696