1. Gene
  2. NDUFB9 - NADH:ubiquinone oxidoreductase subunit B9 Gene

NDUFB9 - NADH:ubiquinone oxidoreductase subunit B9 Gene

中文名称:NADH:泛醌氧化还原酶 B9 亚基

种属: Homo sapiens

同用名: B22; LYRM3; CI-B22; UQOR22; MC1DN24

基因 ID: 4715 | 基因类型: protein coding

关于 NDUFB9

Cytogenetic location: 8q24.13 Genomic coordinates (GRCh38): 8:124,539,123-124,549,979 (from NCBI)

This gene has 16 transcripts (splice variants), 208 orthologues and is associated with 2 phenotypes. Ubiquitous expression in heart (RPKM 119.4), kidney (RPKM 111.6) and 25 other tissues.

功能概要

该基因编码的蛋白质是线粒体氧化磷酸化复合物 I (烟酰胺腺嘌呤二核苷酸:泛醌氧化还原酶) 的一个亚基。复合物 I 定位于线粒体内膜,起到脱氢烟酰胺腺嘌呤二核苷酸和将电子穿梭到辅酶 Q 的作用。复合物 I 缺乏是氧化磷酸化障碍中最常见的缺陷,会导致一系列疾病,包括致命的新生儿疾病,肥厚性心肌病、肝病和成人发病的神经退行性疾病。该基因的假基因位于染色体 5、7 和 8 上。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 7 月]

The protein encoded by this gene is a subunit of the mitochondrial Oxidative Phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenate nicotinamide adenine dinucleotide and to shuttle electrons to coenzyme Q. Complex I deficiency is the most common defect found in Oxidative Phosphorylation disorders and results in a range of conditions, including lethal neonatal disease, hypertrophic cardiomyopathy, liver disease, and adult-onset neurodegenerative disorders. Pseudogenes of this gene are found on chromosomes five, seven and eight. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

NDUFB9 基因产物(4)

mRNA Protein Name
NM_001278645.2 NP_001265574.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 2
NM_001278646.2 NP_001265575.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 3
NM_001311168.2 NP_001298097.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 4
NM_005005.3 NP_004996.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 isoform 1
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
16189514 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
27626371 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
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

NDUFB9 蛋白结构

Complex1_LYR

Complex1_LYR: Complex 1 protein (LYR family) (14 - 71)

  • 0
  • 100
  • 179 a.a.
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9

LYR motif-containing protein 3

NDUFB9 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 NDUFB9 Q9Y6M9 MAGEA11 Homo sapiens P43364-2
Y2H Array
25416956
Intra NDUFB9 Q9Y6M9 MAGEA11 Homo sapiens P43364-2
Y2H Prey Pooling
25416956
Intra NDUFB9 Q9Y6M9 MAGEA11 Homo sapiens P43364
Y2H Prey Pooling
32296183
Intra NDUFB9 Q9Y6M9 MAGEA11 Homo sapiens P43364
Y2H Array
32296183
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 24

MC1DN24

Mitochondrial Complex 1 Deficiency, Nuclear Type 24

Nuclear Type Mitochondrial Complex I Deficiency 24

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

Epilepsy, Idiopathic Generalized 11

Epilepsy, Idiopathic Generalized, Susceptibility To, 11

EIG11

Epilepsy, Juvenile Absence 2

Epilepsy, Juvenile Myoclonic 8

Idiopathic Generalized Epilepsy 11

Epilepsy, Juvenile Absence, Susceptibility To, 2

Epilepsy, Juvenile Myoclonic, Susceptibility To, 8

Susceptibility To Idiopathic Generalized Epilepsy 11

Juvenile Absence Epilepsy 2

JAE2

Eja2

Susceptibility To Juvenile Absence Epilepsy 2

Juvenile Myoclonic Epilepsy 8

EJM8

Susceptibility To Juvenile Myoclonic Epilepsy 8

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 11

Chronic Laryngitis
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

Cardiomyopathy, Infantile Histiocytoid

Histiocytoid Cardiomyopathy

Foamy Myocardial Transformation Of Infancy

Infantile Histiocytoid Cardiomyopathy

Infantile Xanthomatous Cardiomyopathy

Oncocytic Cardiomyopathy

Cardiomyopathy, Infantile Xanthomatous

Cardiomyopathy, Focal Lipid

Cardiomyopathy, Oncocytic

Focal Lipid Cardiomyopathy

Infantile Cardiomyopathy With Histiocytoid Change

CMIH

Cardiomyopathy Focal Lipid

Cardiomyopathy Infantile Xanthomatous

Cardiomyopathy Oncocytic

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

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

Leukodystrophy

Leukodystrophies

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
Bos taurus NDUFB9 VGNC VGNC:31967
Felis catus NDUFB9 VGNC VGNC:81713
Rattus norvegicus NDUFB9 RGD RGD:1307114
Macaca mulatta NDUFB9 VGNC VGNC:75160
Mus musculus NDUFB9 MGD MGI:1913468
Canis familiaris NDUFB9 VGNC VGNC:43706