BC017788
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
39,543 Da
NCBI Official Full Name
Homo sapiens transcription factor B1, mitochondrial, mRNA
NCBI Official Synonym Full Names
transcription factor B1, mitochondrial
NCBI Protein Information
dimethyladenosine transferase 1, mitochondrial
UniProt Protein Name
Dimethyladenosine transferase 1, mitochondrial
UniProt Synonym Protein Names
Mitochondrial 12S rRNA dimethylase 1; Mitochondrial transcription factor B1; h-mtTFB; h-mtTFB1; hTFB1M; mtTFB1; S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1
UniProt Synonym Gene Names
UniProt Entry Name
TFB1M_HUMAN
NCBI Summary for TFB1M
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 Comments for TFB1M
TFB1M: 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. Variations in TFB1M may influence the clinical expression of aminoglycoside-induced deafness caused by the A1555G mutation in the mitochondrial 12S rRNA. Belongs to the methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family. KsgA subfamily.
Protein type: EC 2.1.1.-; Methyltransferase
Chromosomal Location of Human Ortholog: 6q25.1-q25.3
Cellular Component: mitochondrial matrix
Molecular Function: protein binding; rRNA (adenine-N6,N6-)-dimethyltransferase activity
Biological Process: mitochondrion organization and biogenesis
Research Articles on TFB1M
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Pathways associated with TFB1M cdna clone
Diseases associated with TFB1M cdna clone
Organs/Tissues associated with TFB1M cdna clone
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