1. Gene
  2. NDUFA5 - NADH:ubiquinone oxidoreductase subunit A5 Gene

NDUFA5 - NADH:ubiquinone oxidoreductase subunit A5 Gene

中文名称:NADH:泛醌氧化还原酶亚基 A5

种属: Homo sapiens

同用名: B13; NUFM; UQOR13; CI-13kB; CI-13KD-B

基因 ID: 4698 | 基因类型: protein coding

关于 NDUFA5

Cytogenetic location: 7q31.32 Genomic coordinates (GRCh38): 7:123,536,997-123,601,651 (from NCBI)

This gene has 25 transcripts (splice variants) and 258 orthologues. Ubiquitous expression in thyroid (RPKM 21.8), heart (RPKM 20.7) and 25 other tissues.

功能概要

该核基因编码一种保守蛋白,该蛋白包含线粒体呼吸链复合体 I 的 B13 亚基。编码的蛋白质定位于线粒体内膜,据认为它有助于将电子从 NADH 转移到泛醌。可变剪接导致多个转录本变体。该基因在 1、3、6、8、9、11、12 和 16 号染色体上有许多假基因。[RefSeq 提供,2014 年 4 月]

This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. [provided by RefSeq, Apr 2014]

NDUFA5 基因产物(6)

mRNA Protein Name
NM_001282419.3 NP_001269348.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 2
NM_001282420.3 NP_001269349.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 3
NM_001282421.3 NP_001269350.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 4
NM_001282422.3 NP_001269351.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 5
NM_001291304.2 NP_001278233.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 isoform 6
NM_005000.5 NP_004991.1 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5 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
24344204 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

NDUFA5 蛋白结构

ETC_C1_NDUFA5

ETC_C1_NDUFA5: ETC complex I subunit conserved region (19 - 73)

  • 0
  • 100
  • 116 a.a.
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa

NDUFA5 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 NDUFA5 Q16718 NDUFS3 Homo sapiens O75489
Y2H Array
32296183
Intra NDUFA5 Q16718 NDUFS3 Homo sapiens O75489
Y2H Prey Pooling
32296183
Intra NDUFA5 Q16718 YWHAG Homo sapiens P61981
Y2H Pooling
32814053
Intra NDUFA5 Q16718 YWHAG Homo sapiens P61981
Validated Y2H
32814053
Intra NDUFA5 Q16718 YWHAG Homo sapiens P61981
Y2H Array
32814053
Intra NDUFA5 Q16718 KAT5 Homo sapiens Q92993
Validated Y2H
32814053
Intra NDUFA5 Q16718 KAT5 Homo sapiens Q92993
Y2H Array
32814053
Intra NDUFA5 Q16718 KAT5 Homo sapiens Q92993
Y2H Pooling
32814053
Intra NDUFA5 Q16718 PLEKHF2 Homo sapiens Q9H8W4
Validated Y2H
32296183
Intra NDUFA5 Q16718 SETDB1 Homo sapiens Q15047-2
Validated Y2H
32814053
Intra NDUFA5 Q16718 SETDB1 Homo sapiens Q15047-2
Y2H Pooling
32814053
Intra NDUFA5 Q16718 SETDB1 Homo sapiens Q15047-2
Y2H Array
32814053
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
Endobronchial Leiomyoma
Korean Hemorrhagic Fever

Hemorrhagic Fever With Renal Syndrome

Lung Leiomyoma

Pulmonary Leiomyoma

Leiomyoma Of Lung

Oral Tuberculosis

Tuberculosis, Oral

Medullary Colon Carcinoma
Polyomavirus-Associated Nephropathy

Polyomavirus Associated Nephropathy

Pvan

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

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

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

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 NDUFA5 VGNC VGNC:31949
Macaca mulatta NDUFA5 VGNC VGNC:108425
Rattus norvegicus NDUFA5 RGD RGD:3155
Mus musculus NDUFA5 MGD MGI:1915452