TFB1M | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | TFB1M , CGI75, mtTFB, mtTFB1, CGI-75, transcription factor B1, mitochondrial | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 607033 MGI: 2146851 HomoloGene: 9343 GeneCards: TFB1M | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Dimethyladenosine transferase 1, mitochondrial; Transcription factor B1, mitochondrial is a mitochondrial enzyme that is encoded by the TFB1M gene. [5] [6] [7]
TFB1M is a mitochondrial methyltransferase, which uses S-adenosyl methionine to dimethylate two highly conserved adenosine residues at the 3'-end of the mitochondrial 12S rRNA thereby regulating the assembly or stability of the small subunit of the mitochondrial ribosome. [6] [8] [9]
Additionally, TFB1M has been demonstrated to stimulate transcription from promoter templates in an in vitro system containing recombinant mitochondrial RNA polymerase and TFAM. [10] There are no experimental data demonstrating that this function occurs in vivo; the paralogous TFB2M is more specific for this role. [11]
Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA. The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell.
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Methyl-CpG-binding domain protein 1 is a protein that in humans is encoded by the MBD1 gene. The protein encoded by MBD1 binds to methylated sequences in DNA, and thereby influences transcription. It binds to a variety of methylated sequences, and appears to mediate repression of gene expression. It has been shown to play a role in chromatin modification through interaction with the histone H3K9 methyltransferase SETDB1. H3K9me3 is a repressive modification.
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