1. Gene
  2. NDUFA9 - NADH:ubiquinone oxidoreductase subunit A9 Gene

NDUFA9 - NADH:ubiquinone oxidoreductase subunit A9 Gene

中文名称:NADH:泛醌氧化还原酶亚基 A9

种属: Homo sapiens

同用名: CC6; CI39k; COQ11; CI-39k; MC1DN26; NDUFS2L; SDR22E1

基因 ID: 4704 | 基因类型: protein coding

关于 NDUFA9

Cytogenetic location: 12p13.32 Genomic coordinates (GRCh38): 12:4,649,114-4,694,317 (from NCBI)

This gene has 9 transcripts (splice variants), 197 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 54.9), colon (RPKM 38.4) and 25 other tissues.

功能概要

编码的蛋白质是 NADH:泛醌氧化还原酶 (复合物 I) 的疏水蛋白部分的亚基,它是位于线粒体内膜的电子传递链中的第一个酶复合物。已在 12 号染色体上鉴定出一个假基因。[RefSeq 提供,2010 年 5 月]

The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first Enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]

NDUFA9 基因产物(1)

mRNA Protein Name
NM_005002.5 NP_004993.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, 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
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
17500595 GOA
enables protein-containing complex binding IDA
IDA: 通过直接分析推断
23209302 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in circadian rhythm IDA
IDA: 通过直接分析推断
28985504 GOA
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
located in mitochondrial matrix IDA
IDA: 通过直接分析推断
8486360 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
9878551 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

NDUFA9 蛋白结构

Epimerase

Epimerase: NAD dependent epimerase/dehydratase family (57 - 215)

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

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial

CI-39kD

NDUFA9 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
NDUFA9 Q16795 KRTAP6-2 Homo sapiens Q3LI66
Y2H Array
32296183
种属内
NDUFA9 Q16795 KRTAP6-2 Homo sapiens Q3LI66
Y2H Prey Pooling
32296183
种属内
NDUFA9 Q16795 KRTAP6-2 Homo sapiens Q3LI66
Validated Y2H
32296183
种属内
NDUFA9 Q16795 BLOC1S1 Homo sapiens P78537
Anti Bait CoIP
22309213
种属内
NDUFA9 Q16795 BLOC1S1 Homo sapiens P78537
Anti Tag CoIP
22309213
种属内
NDUFA9 Q16795 CYSRT1 Homo sapiens A8MQ03
Y2H Array
32296183
种属内
NDUFA9 Q16795 CYSRT1 Homo sapiens A8MQ03
Y2H Prey Pooling
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 26

MC1DN26

Mitochondrial Complex 1 Deficiency, Nuclear Type 26

Nuclear Type Mitochondrial Complex I Deficiency 26

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

Listeriosis

Listeria Infection

Infection By Listeria Monocytogenes

Listeria Monocytogenes Infection

Listeria Infections

Listerial Foodborne Infection

Circling Disease

Infection Due To Listeria Monocytogenes

Listerellosis

Listeria Meningitis

Meningitis, Listeria

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

Loeys-Dietz Syndrome 4

LDS4

Aneurysm, Aortic And Cerebral, With Arterial Tortuosity And Skeletal Manifestations

Loeys-Dietz Syndrome Type 4

Aortic And Cerebral Aneurysm With Arterial Tortuosity And Skeletal Manifestations

Loeys-Dietz Syndrome, Type 4

Leukodystrophy

Leukodystrophies

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
Bos taurus NDUFA9 VGNC VGNC:56233
Rattus norvegicus NDUFA9 RGD RGD:1307307
Mus musculus NDUFA9 MGD MGI:1913358
Macaca mulatta NDUFA9 VGNC VGNC:81480
Felis catus NDUFA9 VGNC VGNC:97524
Canis familiaris NDUFA9 VGNC VGNC:57343