Tbio TRMU Mitochondrial tRNA-specific 2-thiouridylase 1

Protein Summary

Description

Catalyzes the 2-thiolation of uridine at the wobble position (U34) of mitochondrial tRNA(Lys), tRNA(Glu) and tRNA(Gln). Required for the formation of 5-taurinomethyl-2-thiouridine (tm5s2U) of mitochondrial tRNA(Lys), tRNA(Glu), and tRNA(Gln) at the wobble position. ATP is required to activate the C2 atom of the wobble base. 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]

Uniprot Accession IDs

• O75648
• A8K3U7
• Q05C99
• Q5W9C8
• Q66K31
• Q6ICC3
• Q9NWC1

Gene Name

• TRMU

Ensembl ID

• ENST00000290846
• ENSP00000290846
• ENSG00000100416
• ENST00000381019
• ENSP00000370407
• ENST00000457572
• ENSP00000407700
• ENST00000645190
• ENSP00000496496

Symbol

• MTU1
• TRMT1
• MTO2
• MTU1
• TRMT
• LCAL3
• TRMT1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.9
tissue sample	0.68
small molecule perturbation	0.64
virus perturbation	0.64
cell type or tissue	0.6

Protein Classes

PANTHER Classes

Protein / Transferase / Methyltransferase / Rna Methyltransferase / Mitochondrial Trna-specific 2-thiouridylase 1

Protein / Nucleic Acid Binding / Rna Binding Protein / Rna Methyltransferase / Mitochondrial Trna-specific 2-thiouridylase 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 67.32   (req: < 5)

Gene RIFs: 13   (req: <= 3)

Antibodies: 167   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 67.32   (req: >= 5)

Gene RIFs: 13   (req: > 3)

Antibodies: 167   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 4

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Expression Data (0 Tissues)

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No expression data found

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (144)

Explore Interacting Targets

1 – 10 of 144

• See Interactions on String-DB

MBL2

Tbio

Novelty:  0.00124156

p_int:  0.999999821

p_ni:  8.2e-8

p_wrong:  9.7e-8

Data Source:  BioPlex

FAM219B

Tdark

Novelty:  5.26378794

p_int:  0.999999098

p_ni:  8.34e-7

p_wrong:  6.9e-8

Score:  0.507

Data Source:  BioPlex,STRINGDB

THUMPD3

Tdark

Novelty:  0.23224828

p_int:  0.99999306

p_ni:  0.000004161

p_wrong:  0.000002779

Score:  0.445

Data Source:  BioPlex,STRINGDB

HSPD1

Tbio

Novelty:  0.00018924

p_int:  0.999981638

p_ni:  0.000018336

p_wrong:  2.6e-8

Score:  0.262

Data Source:  BioPlex,STRINGDB

IL1R2

Tbio

Novelty:  0.00820359

p_int:  0.999910981

p_ni:  0.000037765

p_wrong:  0.000051254

Data Source:  BioPlex

HOXC10

Tbio

Family:  TF

Novelty:  0.02817778

p_int:  0.999885982

p_ni:  0.000045949

p_wrong:  0.000068069

Score:  0.309

Data Source:  BioPlex,STRINGDB

GPSM3

Tbio

Novelty:  0.01632501

p_int:  0.999775412

p_ni:  0.000214152

p_wrong:  0.000010436

Data Source:  BioPlex

YBEY

Tdark

Family:  Enzyme

Novelty:  0.02778029

p_int:  0.999569314

p_ni:  0.000047476

p_wrong:  0.00038321

Score:  0.345

Data Source:  BioPlex,STRINGDB

CARTPT

Tbio

Novelty:  0.00224864

p_int:  0.998089884

p_ni:  0.00168422

p_wrong:  0.000225896

Data Source:  BioPlex

RNF181

Tbio

Family:  Enzyme

Novelty:  0.27482636

p_int:  0.980191782

p_ni:  0.016426909

p_wrong:  0.003381309

Data Source:  BioPlex

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (3)

Reactome (3)

Metabolism of RNA (R-HSA-8953854)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	Metabolism of RNA	686 targets	R-HSA-8953854
Reactome	tRNA modification in the mitochondrion	9 targets	R-HSA-6787450
Reactome	tRNA processing	123 targets	R-HSA-72306

Name	Explore in Pharos	Explore in Source
Metabolism of RNA	686 targets	R-HSA-8953854
tRNA modification in the mitochondrion	9 targets	R-HSA-6787450
tRNA processing	123 targets	R-HSA-72306

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (6)

Functions (3)

Components (2)

Processes (1)

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Items per page:

10

1 – 3 of 3

GO Term	Evidence	Assigned by
ATP binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW
sulfurtransferase activity	Inferred from Electronic Annotation (IEA)	InterPro
tRNA binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Disease Associations ()

No disease associations found

GWAS Traits (8)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 8

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
testosterone measurement	EFO_0004908	3	3	6		89.8
triglyceride measurement	EFO_0004530	2	2	2		55.8
alkaline phosphatase measurement	EFO_0004533	1	1	1		52
heel bone mineral density	EFO_0009270	1	1	1		33.1
total cholesterol measurement	EFO_0004574	1	1	1		24.5

• Explore on Target Illumination GWAS Analytics (TIGA)

Items per page:

5

1 – 5 of 8

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
testosterone measurement	EFO_0004908	6		89.8
triglyceride measurement	EFO_0004530	2		55.8
alkaline phosphatase measurement	EFO_0004533	1		52
heel bone mineral density	EFO_0009270	1		33.1
total cholesterol measurement	EFO_0004574	1		24.5

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Find similar targets by:

UniProt Keyword Find Similar Targets

No Header	No Header
Alternative splicing
ATP-binding
Complete proteome
Deafness
Disease mutation
Disulfide bond
Mitochondrion
Non-syndromic deafness
Nucleotide-binding
Polymorphism

GWAS Trait Find Similar Targets

No Header	No Header
alkaline phosphatase measurement
estradiol measurement
heart rate
heel bone mineral density
low density lipoprotein cholesterol measurement
testosterone measurement
total cholesterol measurement
triglyceride measurement

MGI Phenotype Find Similar Targets

No Header	No Header
cardiovascular system phenotype
cellular phenotype
homeostasis/metabolism phenotype
immune system phenotype
liver/biliary system phenotype
mortality/aging

IDG Resources

No IDG generated resources found

Orthologs (16)

1 – 5 of 16

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	VGNC:12934	458914
Macaque	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase		714268
Mouse	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	MGI:1919276	72026
Rat	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	RGD:1311229	362976
Dog	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	VGNC:47861	481204

Species	Name	OMA	EggNOG	Inparanoid
Chimp	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
Macaque	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
Mouse	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
Rat	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
Dog	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase

Publication Statistics

PubMed Score 67.32

PubMed score by year

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PubTator Score 24.60

PubTator score by year

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Related Publications

Text Mined References (23)

GeneRif Annotations (13)

Items per page:

10

0 of 0

PMID	Year	Title