TRMU - tRNA mitochondrial 2-thiouridylase Gene

Homo sapiens

Also known as MTO2; MTU1; TRMT; LCAL3; TRMT1

Gene ID: 55687 | Gene type: protein coding

About TRMU

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:46,335,714-46,357,340 (from NCBI)

This gene has 24 transcripts (splice variants), 205 orthologues and is associated with 5 phenotypes. Ubiquitous expression in spleen (RPKM 4.2), skin (RPKM 3.8) and 25 other tissues.

Summary

This nuclear gene encodes a mitochondrial tRNA-modifying Enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

TRMU Products(5)

mRNA	Protein	Name
NM_001282782.2	NP_001269711.1	mitochondrial tRNA-specific 2-thiouridylase 1 isoform d
NM_001282783.2	NP_001269712.1	mitochondrial tRNA-specific 2-thiouridylase 1 isoform e
NM_001282784.2	NP_001269713.1	mitochondrial tRNA-specific 2-thiouridylase 1 isoform f
NM_001282785.2	NP_001269714.1	mitochondrial tRNA-specific 2-thiouridylase 1 isoform g
NM_018006.5	NP_060476.2	mitochondrial tRNA-specific 2-thiouridylase 1 isoform a

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	33961781	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

TRMU Protein Structure

tRNA_Me_trans

0
100
200
300
421 a.a.

Protein Preferred Names

Protein Names

mitochondrial tRNA-specific 2-thiouridylase 1

MTO2 homolog

Related Diseases

Diseases

Alias

Liver Failure, Infantile, Transient

Acute Infantile Liver Failure Due To Synthesis Defect Of Mtdna-Encoded Proteins	Transient Infantile Liver Failure
LFIT	Acute Infantile Liver Failure
Acute Infantile Liver Failure Due To Synthesis Defect Of Mitochondrial Dna-Encoded Proteins	Liver Failure, Transient Infantile
Acute Infantile Liver Failure Due To Mtdna-Encoded Proteins Synthesis Defect	Liver Failure, Acute Infantile
Failure, Liver, Transient, Infantile

Deafness, Aminoglycoside-Induced

Streptomycin Ototoxicity	Deafness, Mitochondrial, Modifier Of
Aminoglycoside-Induced Deafness	Deafness, Streptomycin-Induced
Streptomycin-Induced Deafness	DFNI

Mitochondrial Myopathy, Infantile, Transient

Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	MMIT
Mitochondrial Myopathy, Infantile, Transient, Due To Respiratory Chain Deficiency	Cox Deficiency Myopathy, Infantile, Transient
Respiratory Chain Deficiency, Infantile, Transient	Benign Cox Deficiency
Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy	Mitochondrial Myopathy With Reversible Cox Deficiency
Mitochondrial Myopathy With Reversible Complex Iv Deficiency	Reversible Infantile Cytochrome C Oxidase Deficiency
Reversible Infantile Respiratory Chain Deficiency

Deafness, Nonsyndromic Sensorineural, Mitochondrial

Mitochondrial Non-Syndromic Sensorineural Hearing Loss	Mitochondrial Nonsyndromic Sensorineural Deafness
Mitochondrial Non-Syndromic Sensorineural Deafness	Isolated Mitochondrial Neurosensory Deafness
Isolated Mitochondrial Neurosensory Hearing Loss	Isolated Mitochondrial Sensorineural Deafness
Isolated Mitochondrial Sensorineural Hearing Loss	Mitochondrial Non-Syndromic Neurosensory Deafness
Mitochondrial Non-Syndromic Neurosensory Hearing Loss	Deafness, Sensorineural, Mitochondrial
DFNM

Combined Oxidative Phosphorylation Deficiency 10

COXPD10	Mitochondrial Hypertrophic Cardiomyopathy With Lactic Acidosis Due To Mto1 Deficiency
Cardiomyopathy, Infantile Hypertrophic Mitochondrial, And Lactic Acidosis	Infantile Hypertrophic Mitochondrial Cardiomyopathy And Lactic Acidosis
Combined Oxidative Phosphorylation Defect Type 10	Cardiomyopathy Infantile Hypertrophic Mitochondrial And Lactic Acidosis
Combined Oxidative Phosphorylation Deficiency, Type 10

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

Queensland Tick Typhus

Australian Tick Typhus	North Queensland Tick Typhus
Rickettsia Australis Spotted Fever

Drug-Induced Hearing Loss

Drug Induced Hearing Loss

Mitochondrial Complex I Deficiency, Nuclear Type 33

MC1DN33	Nuclear Type Mitochondrial Complex I Deficiency 33
Mitochondrial Complex 1 Deficiency, Nuclear Type 33

Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2

MLASA2	Myopathy With Lactic Acidosis And Sideroblastic Anemia 2
Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2

Myopathy, Lactic Acidosis, And Sideroblastic Anemia

Arthrogryposis Multiplex Congenita 2, Neurogenic Type

Arthrogryposis Multiplex Congenita, Neurogenic Type	Amcn
Arthrogryposis Multiplex Congenita Neurogenic Type	AMC2
Amc, Neurogenic Type	Neurogenic-Type Arthrogryposis Multiplex Congenita-2
Amc Neurogenic Type	Neurogenic Type Of Amc
Neurogenic Arthrogryposis Multiplex Congenita	Arthrogryposis Multiplex Congenita, Neurogenic

Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay

SIFD	Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome
Sifd Syndrome

Nephrotic Syndrome, Type 2

NPHS2	Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive
Srn1	Nephrotic Syndrome Type 2
Steroid-Resistant Autosomal Recessive Nephrotic Syndrome	Nephrotic Syndrome 2
Autosomal Recessive Steroid-Resistant Nephrotic Syndrome	Srn
Nephrotic Syndrome, Type 2, Susceptibility To	Idiopathic Nephrotic Syndrome

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome	MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes	Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

Mitochondrial Dna Depletion Syndrome 4b

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome	Mngie Syndrome
Thymidine Phosphorylase Deficiency	MTDPS4B
Mitochondrial Neurogastrointestinal Encephalopathy Disease	Mngie
Myoneurogastrointestinal Encephalopathy Syndrome	Ogimd
Oculogastrointestinal Muscular Dystrophy	Polip
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related
Mngie, Polg-Related	Mepop
Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction	Mngie Disease
Mitochondrial Dna Depletion Syndrome 4b Mngie Type	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related
Mngie Polg-Related	Mitochondrial Dna Depletion Syndrome, Type 4b
Visceral Myopathy Familial External Ophthalmoplegia

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

Mitochondrial Dna Depletion Syndrome 4a

Alpers Syndrome	Alpers-Huttenlocher Syndrome
Alpers Progressive Infantile Poliodystrophy	Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
Alpers Disease	Progressive Sclerosing Poliodystrophy
Pndc	Diffuse Cerebral Sclerosis Of Schilder
MTDPS4A	Neuronal Degeneration Of Childhood With Liver Disease, Progressive
Alper'S Syndrome	Alpers' Disease Or Gray-Matter Degeneration
Diffuse Cerebral Degeneration In Infancy	Infantile Poliodystrophy
Poliodystrophia Cerebri Progressiva	Progressive Cerebral Poliodystrophy
Alpers' Disease	Alpers Progressive Sclerosing Poliodystrophy
Progressive Neuronal Degeneration Of Childhood With Liver Disease	Ahs
Mitochondrial Dna Depletion Syndrome 4a Alpers Type	Neuronal Degeneration Of Childhood With Liver Disease Progressive

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

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy	Leber Hereditary Optic Neuropathy
LHON	Leber'S Hereditary Optic Neuropathy
Leber Optic Atrophy, Susceptibility To	Leber'S Optic Atrophy
LOAM	Loas
Leber'S Disease	Leber'S Optic Neuropathy
Optic Atrophy, Hereditary, Leber	Lhon, Modifier Of
Optic Atrophy, Leber Type	Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy	Loa
Optic Atrophy Leber Type	Leber Hereditary Optic Neuropathy, Modifier
Leber Hereditary Optic Neuropathy Susceptibility	Modifier Of Leber Hereditary Optic Neuropathy
Lebers Hereditary Optic Neuropathy	Leber Congenital Amaurosis

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

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

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15097	TRMU Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TRMU	VGNC	VGNC:47861
Rattus norvegicus	TRMU	RGD	RGD:1311229
Bos taurus	TRMU	VGNC	VGNC:36376
Macaca mulatta	TRMU	VGNC	VGNC:79500
Felis catus	TRMU	VGNC	VGNC:66577
Mus musculus	TRMU	MGD	MGI:1919276

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