1. Gene
  2. NDUFB6 - NADH:ubiquinone oxidoreductase subunit B6 Gene

NDUFB6 - NADH:ubiquinone oxidoreductase subunit B6 Gene

中文名称:NADH:泛醌氧化还原酶 B6 亚基

种属: Homo sapiens

同用名: CI; B17

基因 ID: 4712 | 基因类型: protein coding

关于 NDUFB6

Cytogenetic location: 9p21.1 Genomic coordinates (GRCh38): 9:32,553,001-32,573,159 (from NCBI)

This gene has 3 transcripts (splice variants) and 205 orthologues. Ubiquitous expression in heart (RPKM 40.7), kidney (RPKM 36.7) and 25 other tissues.

功能概要

该基因编码的蛋白质是多亚基 NADH 的一个亚基:泛醌氧化还原酶 (复合物 I) 。哺乳动物复合体 I 由 45 个不同的亚基组成。它位于线粒体内膜。该蛋白具有 NADH 脱氢酶活性和氧化还原酶活性。它将电子从 NADH 转移到呼吸链。该酶的直接电子受体被认为是泛醌。选择性剪接发生在该位点,并且已经鉴定出编码不同亚型的三种转录物变体。[RefSeq 提供,2011 年 1 月]

The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the Enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jan 2011]

NDUFB6 基因产物(3)

mRNA Protein Name
NM_001199987.2 NP_001186916.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 3
NM_002493.5 NP_002484.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 1
NM_182739.3 NP_877416.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 2
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 ATP synthesis coupled electron transport IMP
IMP: 通过突变表型推断
24746669 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 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
12611891 GOA
part of respiratory chain complex I IMP
IMP: 通过突变表型推断
24746669 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

NDUFB6 蛋白结构

NDUF_B6

NDUF_B6: NADH:ubiquinone oxidoreductase, NDUFB6/B17 subunit (1 - 128)

  • 0
  • 100
  • 128 a.a.
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6

CI-B17

NDUFB6 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
NDUFB6 O95139 ERGIC3 Homo sapiens Q9Y282 32296183
种属内
NDUFB6 O95139 ERGIC3 Homo sapiens Q9Y282 32296183
种属内
NDUFB6 O95139 ERGIC3 Homo sapiens Q9Y282 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 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

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
Rattus norvegicus NDUFB6 RGD RGD:1311354
Felis catus NDUFB6 VGNC VGNC:68442
Mus musculus NDUFB6 MGD MGI:2684983
Macaca mulatta NDUFB6 VGNC VGNC:75159
Canis familiaris NDUFB6 VGNC VGNC:43704
Bos taurus NDUFB6 VGNC VGNC:31965
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