• Gene id: 51106

Gene Summary

• Gene Symbol: TFB1M   Gene   UCSC   Ensembl
• Aliases: CGI-75, CGI75, mtTFB, mtTFB1
• Gene name: transcription factor B1, mitochondrial
• Alternate names: dimethyladenosine transferase 1, mitochondrial, S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1, h-mtTFB1, hTFB1M, homolog of yeast mitochondrial transcription factor B, mitochondrial 12S rRNA dimethylase 1, mitochondrial dimethyladenosine tr,
• Gene location: 6q25.3 (155314496: 155229870)     Exons: 15     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 607033

Protein Summary

• Protein general information: Q8WVM0  
  • 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)
  • Length: 346  
  • Mass: 39543
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MAASGKLSTCRLPPLPTIREIIKLLRLQAAKQLSQNFLLDLRLTDKIVRKAGNLTNAYVYEVGPGPGGITRSILN
  ADVAELLVVEKDTRFIPGLQMLSDAAPGKLRIVHGDVLTFKVEKAFSESLKRPWEDDPPNVHIIGNLPFSVSTPL
  IIKWLENISCRDGPFVYGRTQMTLTFQKEVAERLAANTGSKQRSRLSVMAQYLCNVRHIFTIPGQAFVPKPEVDV
  GVVHFTPLIQPKIEQPFKLVEKVVQNVFQFRRKYCHRGLRMLFPEAQRLESTGRLLELADIDPTLRPRQLSISHF
  KSLCDVYRKMCDEDPQLFAYNFREELKRRKSKNEEKEEDDAENYRL

• Structural information:
  • Interpro: IPR001737  IPR023165  IPR020596  IPR020598  IPR011530   IPR029063  
  • Prosite: PS01131 PS51689
  • PDB: 6AAX 6AJK
  • PDBsum: 6AAX 6AJK
  • STRING: ENSP00000356134
• Other Databases: GeneCards:  TFB1M  Malacards:  TFB1M

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000179	rRNA (adenine-N6,N6-)-dimethyltransferase activity	IBA	molecular function
GO:0031167	rRNA methylation	IBA	biological process
GO:0000154	rRNA modification	IEA	biological process
GO:0000179	rRNA (adenine-N6,N6-)-dimethyltransferase activity	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0008649	rRNA methyltransferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0000179	rRNA (adenine-N6,N6-)-dimethyltransferase activity	EXP	molecular function
GO:0000179	rRNA (adenine-N6,N6-)-dimethyltransferase activity	EXP	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0000154	rRNA modification	TAS	biological process
GO:0007005	mitochondrion organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray