TFB1M (transcription factor B1, mitochondrial)

Gene

• Entrez ID: 51106
• Gene name: Transcription factor B1, mitochondrial
• Gene symbol: TFB1M
• Synonyms (NCBI Gene): CGI-75, CGI75, mtTFB, mtTFB1
• 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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 607033
• HGNC: 17037
• e!Ensembl: ENSG00000029639

Protein

• UniProt ID: 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

Pathways

Reactome:

Transcriptional activation of mitochondrial biogenesis
rRNA modification in the mitochondrion

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