Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	51106
Gene name	Transcription factor B1, mitochondrial
Gene symbol	TFB1M
Synonyms (NCBI Gene)	CGI-75CGI75mtTFBmtTFB1
Chromosome	6
Chromosome location	6q25.3
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 expressi

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miRTarBase ID	miRNA	Experiments	Reference
MIRT726339	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT726338	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT726337	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT726335	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT726336	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT726334	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT1420004	hsa-miR-1207-3p	CLIP-seq
MIRT1420005	hsa-miR-129-5p	CLIP-seq
MIRT1420006	hsa-miR-1343	CLIP-seq
MIRT1420007	hsa-miR-2113	CLIP-seq
MIRT1420008	hsa-miR-3145-3p	CLIP-seq
MIRT1420009	hsa-miR-3682-3p	CLIP-seq
MIRT1420010	hsa-miR-3944-5p	CLIP-seq
MIRT1420011	hsa-miR-4768-5p	CLIP-seq
MIRT1420012	hsa-miR-629	CLIP-seq
MIRT2348118	hsa-miR-224	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000154	Process	RRNA modification	IEA
GO:0000154	Process	RRNA modification	TAS
GO:0000179	Function	RRNA (adenine-N6,N6-)-dimethyltransferase activity	EXP	12496758, 23303773
GO:0000179	Function	RRNA (adenine-N6,N6-)-dimethyltransferase activity	IBA
GO:0000179	Function	RRNA (adenine-N6,N6-)-dimethyltransferase activity	IDA	31251801
GO:0000179	Function	RRNA (adenine-N6,N6-)-dimethyltransferase activity	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12897151
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006364	Process	RRNA processing	IEA
GO:0006391	Process	Transcription initiation at mitochondrial promoter	IBA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031167	Process	RRNA methylation	IBA
GO:0031167	Process	RRNA methylation	IDA	31251801
GO:0031167	Process	RRNA methylation	IEA
GO:0032259	Process	Methylation	IEA
GO:0034246	Function	Mitochondrial transcription factor activity	IBA
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578
GO:1904047	Function	S-adenosyl-L-methionine binding	IDA	31251801
GO:1904047	Function	S-adenosyl-L-methionine binding	IEA

MIM	HGNC	e!Ensembl
607033	17037	ENSG00000029639

Q8WVM0

Protein name

Dimethyladenosine transferase 1, mitochondrial (EC 2.1.1.-) (Mitochondrial 12S rRNA dimethylase 1) (Mitochondrial transcription factor B1) (h-mtTFB) (h-mtTFB1) (hTFB1M) (mtTFB1) (S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1)

Protein function

Mitochondrial methyltransferase which uses S-adenosyl methionine to dimethylate two highly conserved adjacent adenosine residues (A1583 and A1584) within the loop of helix 45 at the 3-prime end of 12S rRNA, thereby regulating the assembly or sta

PDB

6AAX , 6AJK , 8CSP , 8CSQ , 8CSR , 8CSU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00398	RrnaAD	26 → 303	Ribosomal RNA adenine dimethylase	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12068295}.

Sequence

MAASGKLSTCRLPPLPTIREIIKLLRLQAAKQLSQNFLLDLRLTDKIVRKAGNLTNAYVY
EVGPGPGGITRSILNADVAELLVVEKDTRFIPGLQMLSDAAPGKLRIVHGDVLTFKVEKA
FSESLKRPWEDDPPNVHIIGNLPFSVSTPLIIKWLENISCRDGPFVYGRTQMTLTFQKEV
AERLAANTGSKQRSRLSVMAQYLCNVRHIFTIPGQAFVPKPEVDVGVVHFTPLIQPKIEQ
PFKLVEKVVQNVFQFRRKYCHRGLRMLFPEAQRLESTGRLLELADIDPTLRPRQLSISHF
KSLCDVYRKMCDEDPQLFAYNFREELKRRKSKNEEKEEDDAENYRL

Sequence length

346

Interactions

View interactions

	Reactome
			Transcriptional activation of mitochondrial biogenesis rRNA modification in the mitochondrion

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Breast Neoplasms Male	Associate	30850364	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Associate	25305075	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Associate	25305075	★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninsulin dependent diabetes mellitus with deafness	Associate	19417006	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic sensorineural hearing loss	Associate	25305075	★★★★★ ★☆☆☆☆ Found in Text Mining only

TFB1M (transcription factor B1, mitochondrial)