1. Gene
  2. NDUFB3 - NADH:ubiquinone oxidoreductase subunit B3 Gene

NDUFB3 - NADH:ubiquinone oxidoreductase subunit B3 Gene

中文名称:NADH:泛醌氧化还原酶 B3 亚基

种属: Homo sapiens

同用名: B12; CI-B12; MC1DN25

基因 ID: 4709 | 基因类型: protein coding

关于 NDUFB3

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:201,072,001-201,085,750 (from NCBI)

This gene has 7 transcripts (splice variants), 220 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 29.7), colon (RPKM 28.4) and 24 other tissues.

功能概要

该基因编码线粒体膜呼吸链 NADH 脱氢酶 (复合物 I) 的辅助亚基,它是线粒体电子传递链中的第一个酶。该蛋白质作为单程膜蛋白定位于线粒体的内膜。该基因的突变导致线粒体复合物 1 缺乏。可变剪接导致编码相同蛋白质的多个转录变体。人类有该基因的多个假基因。[RefSeq 提供,2012 年 3 月]

This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]

NDUFB3 基因产物(2)

mRNA Protein Name
NM_001257102.2 NP_001244031.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3
NM_002491.3 NP_002482.1 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3
基因本体论
  • 生物过程
  • 细胞组分
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

NDUFB3 蛋白结构

NDUF_B12

NDUF_B12: NADH-ubiquinone oxidoreductase B12 subunit family (41 - 97)

  • 0
  • 98 a.a.
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa

关联疾病

疾病名称 别名
Mitochondrial Complex I Deficiency, Nuclear Type 25

MC1DN25

Mitochondrial Complex 1 Deficiency, Nuclear Type 25

Nuclear Type Mitochondrial Complex I Deficiency 25

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

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

Leukodystrophy

Leukodystrophies

Myopathy

Muscular Diseases

Myopathies

Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers

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
Macaca mulatta NDUFB3 VGNC VGNC:104545
Canis familiaris NDUFB3 VGNC VGNC:43702
Rattus norvegicus NDUFB3 RGD RGD:1310737
Felis catus NDUFB3 VGNC VGNC:80290
Mus musculus NDUFB3 MGD MGI:1913745
Bos taurus NDUFB3 VGNC VGNC:31963