TUFM - Tu translation elongation factor, mitochondrial Gene

中文名称：Tu 翻译延伸因子，线粒体

种属: Homo sapiens

同用名: P43; EFTU; COXPD4; EF-TuMT

基因 ID: 7284 | 基因类型: protein coding

关于 TUFM

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:28,842,411-28,846,348 (from NCBI)

This gene has 4 transcripts (splice variants), 207 orthologues, 18 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 62.5), colon (RPKM 52.5) and 25 other tissues.

功能概要

该基因编码一种参与线粒体蛋白质翻译的蛋白质。该基因的突变与导致乳酸性酸中毒和致命性脑病的联合氧化磷酸化缺陷有关。已在 17 号染色体上鉴定出假基因。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined Oxidative Phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]

TUFM 基因产物(2)

mRNA	Protein	Name
NM_001365360.2	NP_001352289.1	elongation factor Tu, mitochondrial isoform 2 precursor
NM_003321.5	NP_003312.3	elongation factor Tu, mitochondrial 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 protein binding	IPI IPI: 通过物理相互作用推断	11741979	GOA
enables translation elongation factor activity	IDA IDA: 通过直接分析推断	9332382	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in translational elongation	IDA IDA: 通过直接分析推断	9332382	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitochondrial nucleoid	IDA IDA: 通过直接分析推断	18063578	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	9332382	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

TUFM 蛋白结构

GTP_EFTU

GTP_EFTU_D2

GTP_EFTU_D3

0
100
200
300
400
455 a.a.

蛋白主名

其他名称

elongation factor Tu, mitochondrial

EF-Tu

TUFM 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	TUFM	P49411	FAM9B	Homo sapiens	Q8IZU0	Y2H Array	31515488
Intra	TUFM	P49411	FAM9B	Homo sapiens	Q8IZU0	Y2H Prey Pooling	25416956
Intra	TUFM	P49411	FUNDC1	Homo sapiens	Q8IVP5	Y2H Prey Pooling	25416956
Intra	TUFM	P49411	FUNDC1	Homo sapiens	Q8IVP5	Y2H Array	25416956
Intra	TUFM	P49411	NLRX1	Homo sapiens	Q86UT6	Anti Tag CoIP	28611246
Intra	TUFM	P49411	ARL6IP1	Homo sapiens	Q15041	Y2H Array	25416956
Intra	TUFM	P49411	ARL6IP1	Homo sapiens	Q15041	Y2H Prey Pooling	25416956
Intra	TUFM	P49411	ARL6IP1	Homo sapiens	Q15041	Validated Y2H	25416956
Cross	TUFM	P49411	PB2	Influenza A virus	P03427	Anti Tag CoIP	28611246

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 4

COXPD4	Combined Oxidative Phosphorylation Defect Type 4
Combined Oxidative Phosphorylation Deficiency, Type 4

Combined Oxidative Phosphorylation Deficiency

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Encephalopathy

Brain Diseases	Encephalopathies
Toxic Encephalopathy	Toxic Brain Fever
Toxic Brain Inflammation	Toxic Brain Stem Inflammation
Toxic Cerebral Fever	Toxic Cerebrospinal Fever
Toxic Cerebrospinal Inflammation	Encephalopathy Nec
Encephalopathy Nos	Encephalopathy Disease
Encephalopathy Syndrome

Combined Oxidative Phosphorylation Deficiency 3

Fatal Mitochondrial Disease Due To Combined Oxidative Phosphorylation Defect Type 3	COXPD3
Encephalomyopathy, Respiratory Failure, And Lactic Acidosis	Concentric Cardiomyopathy, Hypotonia, And Lactic Acidosis
Fatal Mitochondrial Disease Due To Coxpd3	Concentric Cardiomyopathy Hypotonia And Lactic Acidosis
Encephalomyopathy Respiratory Failure And Lactic Acidosis	Encephalomyopathy With Respiratory Failure And Lactic Acidosis
Combined Oxidative Phosphorylation Deficiency, Type 3

Combined Oxidative Phosphorylation Deficiency 39

COXPD39	Combined Oxidative Phosphorylation Defect Type 39
Gfm2-Related Combined Oxidative Phosphorylation Defect

Mitochondrial Complex Iv Deficiency, Nuclear Type 5

Leigh Syndrome, French Canadian Type	Mitochondrial Complex V Deficiency Nuclear Type 4
Cytochrome C Oxidase Deficiency, French Canadian Type	Lsfc
Cox Deficiency, French Canadian Type	MC5DN4
MC4DN5	Cox Deficiency, Saguenay-Lac-Saint-Jean Type
Leigh Syndrome, Saguenay-Lac-Saint-Jean Type	Mitochondrial Complex V Deficiency, Nuclear Type 4
French Canadian Leigh Disease	Leigh Syndrome, French-Canadian Type
Leigh Syndrome , French Canadian Type	Mitochondrial Complex V Deficiency, Atp5a1 Type
French Canadian Type Cox Deficiency	French Canadian Type Cytochrome C Oxidase Deficiency
French Canadian Type Leigh Syndrome	Saguenay Lac Saint Jean Type Cox Deficiency
Saguenay Lac Saint Jean Type Leigh Syndrome	Cox Deficiency, Saguenay Lac Saint Jean Type
Leigh Syndrome, Saguenay Lac Saint Jean Type	Mitochondrial Complex V Deficiency, Nuclear Type 4
Mitochondrial Complex V Deficiency Atp5a1 Type	Mitochondrial Complex V Deficiency Type 4
Mitochondrial Complex V Deficiency, Nuclear, Type 4

Combined Oxidative Phosphorylation Deficiency 1

Hepatoencephalopathy Due To Combined Oxidative Phosphorylation Defect Type 1	COXPD1
Early Fatal Progressive Hepatoencephalopathy	Hepatoencephalopathy Due To Coxpd1
Combined Oxidative Phosphorylation Deficiency, Type 1	Hepatoencephalopathy, Early Fatal Progressive
Hepatoencephalopathy Early Fatal Progressive

Skin Amelanotic Melanoma

Skin Amelanotic Malignant Melanoma

Amelanotic Skin Melanoma

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

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15267	TUFM Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	TUFM	VGNC	VGNC:78674
Bos taurus	TUFM	VGNC	VGNC:36517
Rattus norvegicus	TUFM	RGD	RGD:1305501
Felis catus	TUFM	VGNC	VGNC:66708
Mus musculus	TUFM	MGD	MGI:1923686
Canis familiaris	TUFM	VGNC	VGNC:54083

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