TFB1M - transcription factor B1, mitochondrial Gene

Also Known as CGI75; mtTFB; CGI-75; mtTFB1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51106

About TFB1M

Cytogenetic location: 6q25.3 Genomic coordinates (GRCh38): 6:155,229,871-155,314,484 (from NCBI)

This gene has 9 transcripts (splice variants), 211 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 2.2), adrenal (RPKM 1.8) and 25 other tissues.

Summary

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]

TFB1M Products (3)

mRNA	Protein	Name
NM_001350501.2	NP_001337430.1	dimethyladenosine transferase 1, mitochondrial isoform 2
NM_001350502.2	NP_001337431.1	dimethyladenosine transferase 1, mitochondrial isoform 3
NM_016020.4	NP_057104.2	dimethyladenosine transferase 1, mitochondrial isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables S-adenosyl-L-methionine binding	IDA IDA: Inferred from direct assay	31251801	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12897151	GOA
enables rRNA (adenine-N6,N6-)-dimethyltransferase activity	EXP EXP: Inferred from Experiment	12496758	GOA
enables rRNA (adenine-N6,N6-)-dimethyltransferase activity	IDA IDA: Inferred from direct assay	31251801	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in rRNA methylation	IDA IDA: Inferred from direct assay	31251801	GOA

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

TFB1M Protein Structure

RrnaAD

0
100
200
300
346 a.a.

Protein Preferred Names	Protein Names
dimethyladenosine transferase 1, mitochondrial	S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1

Related Diseases

Diseases	Alias
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
Mitochondrial Dna Depletion Syndrome 8a	Mitochondrial Dna Depletion Syndrome 8b MTDPS8A Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mtdna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, With Renal Tubulopathy, Autosomal Recessive Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related Rrm2b-Related Mitochondrial Dna Depletion Syndrome Encephalomyopathic Type With Renal Tubulopathy Rrm2b-Mds Encephalomyopathic Mitochondrial Depletion Syndrome With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type With Renal Tubulopathy Mitochondrial Dna Depletion Syndrome Encephalomyopathic With Renal Tubulopathy Autosomal Recessive MTDPS8B Mitochondrial Dna Depletion Syndrome 8b Mngie Type Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related Mngie Rrm2b-Related Visceral Myopathy Familial External Ophthalmoplegia Mitochondrial Dna Depletion Syndrome, Type 8a
Drug-Induced Hearing Loss	Drug Induced Hearing Loss
Deafness, Aminoglycoside-Induced	Streptomycin Ototoxicity Deafness, Mitochondrial, Modifier Of Aminoglycoside-Induced Deafness Deafness, Streptomycin-Induced Streptomycin-Induced Deafness DFNI
Mitochondrial Dna Depletion Syndrome 11	MTDPS11 Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome Mitochondrial Dna Maintenance Syndrome Due To Mgme1 Deficiency Peo-Myopathy-Emaciation Syndrome Mtdna Maintenance Syndrome Due To Mgme1 Deficiency Mitochondrial Dna Depletion Syndrome, Type 11
Mitochondrial Dna Depletion Syndrome 14	MTDPS14 Mitochondrial Dna Depletion Syndrome 14, Cardioencephalomyopathic Type Mitochondrial Dna Depletion Syndrome, Type 14
Neuropathy, Hereditary Sensory, Type Ie	HSN1E Hsn Ie Hereditary Sensory Neuropathy Type 1e Hereditary Sensory Neuropathy Type Ie Hsan 1 Neuropathy, Hereditary Sensory, With Hearing Loss And Dementia Hereditary Sensory Neuropathy Type 1 Hsn1 Hereditary Sensory And Autonomic Neuropathy Type 1 Neuropathy Hereditary Sensory And Autonomic Type 1 Neuropathy Hereditary Sensory Radicular, Autosomal Dominant Neuropathy, Hereditary Sensory, 1e Neuropathy Hereditary Sensory With Hearing Loss And Dementia Neuropathy, Hereditary Sensory, Type I Neuropathy, Sensory, Hereditary, Type Ie Hereditary Sensory And Autonomic Neuropathy Type Ie Hereditary Sensory Autonomic Neuropathy, Type 1
Mitochondrial Dna Depletion Syndrome 1	MTDPS1 Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related Myoneurogastrointestinal Encephalopathy Syndrome Polip Syndrome Mitochondrial Dna Depletion Syndrome, Type 1 Mngie, Tymp-Related Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction Mitochondrial Dna Depletion Syndrome 1, Mngie Type Mitochondrial Neurogastrointestinal Encephalomyopathy Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related Myoneurogastrointestinal Encephalomyopathy Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
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
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
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

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-RS14413	TFB1M Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21785	Tfb1m Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28301	Tfb1m Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TFB1M	VGNC	VGNC:47288
Mus musculus	TFB1M	MGD	MGI:2146851
Felis catus	TFB1M	VGNC	VGNC:102535
Rattus norvegicus	TFB1M	RGD	RGD:727795
Bos taurus	TFB1M	VGNC	VGNC:35782
Macaca mulatta	TFB1M	VGNC	VGNC:78398
Others	TFB1M	NCBI