TUFM - Tu translation elongation factor, mitochondrial Gene

Also Known as P43; EFTU; COXPD4; EF-TuMT

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7284

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11741979	GOA
enables translation elongation factor activity	IDA IDA: Inferred from direct assay	9332382	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in translational elongation	IDA IDA: Inferred from direct assay	9332382	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial nucleoid	IDA IDA: Inferred from direct assay	18063578	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	9332382	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TUFM Protein Structure

GTP_EFTU

GTP_EFTU_D2

GTP_EFTU_D3

0
100
200
300
400
455 a.a.

Protein Preferred Names	Protein Names
elongation factor Tu, mitochondrial	EF-Tu

TUFM Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
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

Cross: Cross-species interaction Intra: Intraspecies interaction

TUFM Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811118	TUFM Antibody	WB, IHC-P	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15267	TUFM Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18643	Tufm Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25128	Tufm Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	TUFM	NCBI