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  2. NUBPL - NUBP iron-sulfur cluster assembly factor, mitochondrial Gene

NUBPL - NUBP iron-sulfur cluster assembly factor, mitochondrial Gene

中文名称:NUBP 铁硫簇组装因子,线粒体

种属: Homo sapiens

同用名: IND1; huInd1; MC1DN21; C14orf127

基因 ID: 80224 | 基因类型: protein coding

关于 NUBPL

Cytogenetic location: 14q12 Genomic coordinates (GRCh38): 14:31,561,404-31,861,224 (from NCBI)

This gene has 13 transcripts (splice variants), 202 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 1.5), heart (RPKM 1.4) and 25 other tissues.

功能概要

该基因编码 Mrp/NBP35 ATP 结合蛋白家族的成员。编码的蛋白质是呼吸链 NADH 脱氢酶 (复合物 I) 组装所必需的,这是一种位于线粒体内膜的寡聚酶复合物。该基因的突变导致线粒体复合物 I 缺乏。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 5 月]

This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

NUBPL 基因产物(3)

mRNA Protein Name
NM_001201573.2 NP_001188502.1 iron-sulfur protein NUBPL isoform 2
NM_001201574.2 NP_001188503.1 iron-sulfur protein NUBPL isoform 3
NM_025152.3 NP_079428.2 iron-sulfur protein NUBPL isoform 1 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 4 iron, 4 sulfur cluster binding IDA
IDA: 通过直接分析推断
19752196 GOA
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 respiratory chain complex I assembly IMP
IMP: 通过突变表型推断
19752196 GOA
involved in mitochondrion organization IMP
IMP: 通过突变表型推断
19752196 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
19752196 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

NUBPL 蛋白结构

AAA_31

AAA_31: AAA domain (69 - 126)

ParA

ParA: NUBPL iron-transfer P-loop NTPase (177 - 256)

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

iron-sulfur protein NUBPL

IND1 homolog

NUBPL 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
NUBPL Q8TB37 NUBP2 Homo sapiens Q9Y5Y2 32296183
种属内
NUBPL Q8TB37 NUBP2 Homo sapiens Q9Y5Y2 32296183
种属内
NUBPL Q8TB37 NUBP2 Homo sapiens Q9Y5Y2 32296183
种属内
NUBPL Q8TB37 NUBP2 Homo sapiens Q9Y5Y2 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 21

MC1DN21

Mitochondrial Complex 1 Deficiency, Nuclear Type 21

Nuclear Type Mitochondrial Complex I Deficiency 21

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

Mitochondrial Oxidative Phosphorylation Disorder

Oxphos Disease

Mitochondrial Respiratory Chain Disorders

Oxphos - [Oxidative Phosphorylation] Diseases

Glycogen Storage Disease Xv

GSD15

Gsd Xv

Glycogenin Deficiency

Gyg1 Deficiency

Glycogen Storage Disease Type Xv

Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency

Gsd Type 15

Gsd Type Xv

Gsd With Severe Cardiomyopathy Due To Glycogenin Deficiency

Glycogen Storage Disease Type 15

Glycogenosis Type 15

Glycogenosis Type Xv

Glycogenosis With Severe Cardiomyopathy Due To Glycogenin Deficiency

Glycogen Storage Disease 15

Storage Disease, Glycogen, Type Xv

Multiple Mitochondrial Dysfunctions Syndrome 3

MMDS3

Iba57 Deficiency

Multiple Mitochondrial Dysfunctions Syndrome Type 3

Mitochondrial Dysfunctions, Multiple, Syndrome, Type 3

Combined Oxidative Phosphorylation Deficiency 19

COXPD19

Severe Neonatal Lactic Acidosis Due To Nfs1-Isd11 Complex Deficiency

Combined Oxidative Phosphorylation Deficiency, Type 19

Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia

Multiple Mitochondrial Dysfunctions Syndrome 2

MMDS2

Bola3 Deficiency

Multiple Mitochondrial Dysfunctions Syndrome Type 2

Mitochondrial Dysfunctions Syndrome, Multiple, Type 2

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

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 NUBPL RGD RGD:1307232
Mus musculus NUBPL MGD MGI:1924076
Felis catus NUBPL VGNC VGNC:63909
Bos taurus NUBPL VGNC VGNC:32317
Canis familiaris NUBPL VGNC VGNC:44019
Macaca mulatta NUBPL VGNC VGNC:75442