1. Gene
  2. NDUFV3 - NADH:ubiquinone oxidoreductase subunit V3 Gene

NDUFV3 - NADH:ubiquinone oxidoreductase subunit V3 Gene

中文名称:NADH:泛醌氧化还原酶亚基 V3

种属: Homo sapiens

同用名: CI-10k; CI-9KD

基因 ID: 4731 | 基因类型: protein coding

关于 NDUFV3

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:42,893,309-42,913,299 (from NCBI)

This gene has 4 transcripts (splice variants) and 180 orthologues. Ubiquitous expression in fat (RPKM 8.3), heart (RPKM 7.9) and 25 other tissues.

功能概要

由该基因编码的蛋白质是构成 NADH-泛醌氧化还原酶复合物的至少 41 个亚基之一。该复合物是线粒体呼吸链的一部分,用于催化鱼藤酮敏感的 NADH 氧化和泛醌的还原。编码的蛋白质是在复合物的黄素蛋白部分中发现的三种蛋白质之一。编码蛋白质的具体功能未知。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is one of at least forty-one subunits that make up the NADH-ubiquinone oxidoreductase complex. This complex is part of the mitochondrial respiratory chain and serves to catalyze the rotenone-sensitive oxidation of NADH and the reduction of ubiquinone. The encoded protein is one of three proteins found in the flavoprotein fraction of the complex. The specific function of the encoded protein is unknown. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NDUFV3 基因产物(2)

mRNA Protein Name
NM_001001503.2 NP_001001503.1 NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial isoform b precursor
NM_021075.4 NP_066553.3 NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial isoform a 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
24344204 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
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
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
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] flavoprotein 3, mitochondrial

NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa

NDUFV3 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
NDUFV3 P56181 NDUFV1 Homo sapiens P49821
Anti Tag CoIP
33961781
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
Combined Oxidative Phosphorylation Deficiency 7

COXPD7

Combined Oxidative Phosphorylation Defect Type 7

Severe C12orf65-Related Combined Oxidative Phosphorylation Defect

Severe C12orf65-Related Coxpd

Combined Oxidative Phosphorylation Deficiency, Type 7

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
Bos taurus NDUFV3 VGNC VGNC:31976
Rattus norvegicus NDUFV3 RGD RGD:621020
Canis familiaris NDUFV3 VGNC VGNC:43712
Felis catus NDUFV3 VGNC VGNC:102786
Macaca mulatta NDUFV3 VGNC VGNC:75300
Mus musculus NDUFV3 MGD MGI:1890894