Tbio TFB1M Dimethyladenosine transferase 1, mitochondrial

Protein Summary

Description

S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity. The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).[provided by RefSeq, Aug 2010]

Uniprot Accession IDs

• Q8WVM0
• Q05DR0
• Q9Y384

Gene Name

• TFB1M

Ensembl ID

• ENST00000367166
• ENSP00000356134
• ENSG00000029639

Symbol

• CGI75
• mtTFB
• CGI-75
• mtTFB1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.9
protein domain	0.85
transcription factor perturbation	0.74
transcription factor binding site profile	0.71
cell type or tissue	0.69

Protein Classes

PANTHER Classes

Protein / Transferase / Methyltransferase / Rna Methyltransferase / Dimethyladenosine Transferase 1, Mitochondrial

Protein / Nucleic Acid Binding / Rna Binding Protein / Rna Methyltransferase / Dimethyladenosine Transferase 1, Mitochondrial

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: 45.44   (req: < 5)

Gene RIFs: 12   (req: <= 3)

Antibodies: 159   (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: 45.44   (req: >= 5)

Gene RIFs: 12   (req: > 3)

Antibodies: 159   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

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

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Target Illumination GWAS Analytics (TIGA)

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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

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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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 (208)

Explore Interacting Targets

1 – 10 of 208

• See Interactions on String-DB

MRPL12

Tbio

Novelty:  0.10646542

p_int:  0.99998806

p_ni:  0.00001194

Score:  0.648

Data Source:  BioPlex,STRINGDB

RPS16

Tbio

Novelty:  0.00261983

p_int:  0.999338835

p_ni:  0.000661137

p_wrong:  2.9e-8

Score:  0.211

Data Source:  BioPlex,STRINGDB

HSPD1

Tbio

Novelty:  0.00018924

p_int:  0.998572726

p_ni:  0.001427274

Score:  0.463

Data Source:  BioPlex,STRINGDB

YBEY

Tdark

Family:  Enzyme

Novelty:  0.02778029

p_int:  0.994073693

p_ni:  0.004891149

p_wrong:  0.001035158

Score:  0.365

Data Source:  BioPlex,STRINGDB

DCAF8

Tbio

Novelty:  0.12456534

p_int:  0.993006535

p_ni:  0.006993465

Data Source:  BioPlex

MECP2

Tchem

Family:  TF

Novelty:  0.00051767

p_int:  0.990737792

p_ni:  0.009145894

p_wrong:  0.000116314

Score:  0.156

Data Source:  BioPlex,STRINGDB

MRPS17

Tdark

Novelty:  0.46103276

p_int:  0.990156917

p_ni:  0.009720773

p_wrong:  0.000122309

Score:  0.193

Data Source:  BioPlex,STRINGDB

POLRMT

Tbio

Family:  Enzyme

Novelty:  0.01398067

Score:  0.986

Data Source:  STRINGDB

NRF1

Tbio

Family:  TF

Novelty:  0.00543248

Score:  0.963

Data Source:  STRINGDB

TFAM

Tbio

Family:  TF

Novelty:  0.00131608

Score:  0.953

Data Source:  STRINGDB

Nearest Tclin Targets

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

Pathways (9)

Reactome (7)

WikiPathways (2)

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	Mitochondrial biogenesis	89 targets	R-HSA-1592230
Reactome	Organelle biogenesis and maintenance	276 targets	R-HSA-1852241
Reactome	Transcriptional activation of mitochondrial biogenesis	53 targets	R-HSA-2151201
Reactome	rRNA modification in the mitochondrion	8 targets	R-HSA-6793080

Name	Explore in Pharos	Explore in Source
Metabolism of RNA	686 targets	R-HSA-8953854
Mitochondrial biogenesis	89 targets	R-HSA-1592230
Organelle biogenesis and maintenance	276 targets	R-HSA-1852241
Transcriptional activation of mitochondrial biogenesis	53 targets	R-HSA-2151201
rRNA modification in the mitochondrion	8 targets	R-HSA-6793080

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (8)

Functions (3)

Components (2)

Processes (3)

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10

1 – 3 of 3

GO Term	Evidence	Assigned by
rRNA (adenine-N6,N6-)-dimethyltransferase activity	Inferred from Experiment (EXP)	Reactome
RNA binding	Inferred from High Throughput Direct Assay (HDA)	UniProtKB
DNA binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Disease Associations ()

No disease associations found

GWAS Traits (3)

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1 – 3 of 3

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
mathematical ability	EFO_0004875	2	1	2		10.4
self reported educational attainment	EFO_0004784	1	1	1		10.1
cognitive function measurement	EFO_0008354	1	1	1		7.9

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
mathematical ability	EFO_0004875	2		10.4
self reported educational attainment	EFO_0004784	1		10.1
cognitive function measurement	EFO_0008354	1		7.9

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UniProt Keyword Find Similar Targets

No Header	No Header
Complete proteome
DNA-binding
Methyltransferase
Mitochondrion
Polymorphism
Reference proteome
RNA-binding
rRNA processing
S-adenosyl-L-methionine
Transcription

GWAS Trait Find Similar Targets

No Header	No Header
cognitive function measurement
mathematical ability
self reported educational attainment

MGI Phenotype Find Similar Targets

No Header	No Header
cardiovascular system phenotype
cellular phenotype
embryo phenotype
growth/size/body region phenotype
hearing/vestibular/ear phenotype
mortality/aging
muscle phenotype
nervous system phenotype
vision/eye phenotype

IDG Resources

No IDG generated resources found

Orthologs (15)

1 – 5 of 15

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	transcription factor B1, mitochondrial	VGNC:12714	737921
Macaque	transcription factor B1, mitochondrial		701830
Mouse	transcription factor B1, mitochondrial	MGI:2146851	224481
Rat	transcription factor B1, mitochondrial	RGD:727795	308140
Dog	transcription factor B1, mitochondrial	VGNC:47288	476253

Species	Name	OMA	EggNOG	Inparanoid
Chimp	transcription factor B1, mitochondrial
Macaque	transcription factor B1, mitochondrial
Mouse	transcription factor B1, mitochondrial
Rat	transcription factor B1, mitochondrial
Dog	transcription factor B1, mitochondrial

Publication Statistics

PubMed Score 45.44

PubMed score by year

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PubTator Score 17.87

PubTator score by year

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Related Publications

Text Mined References (25)

GeneRif Annotations (12)

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PMID	Year	Title