TFB1M

Transcription factor B1, mitochondrial
Identifiers
Symbols	TFB1M ; CGI-75; CGI75; mtTFB; mtTFB1
External IDs	OMIM: 607033 MGI: 2146851 HomoloGene: 9343 GeneCards: TFB1M Gene
EC number	2.1.1.-
Gene ontology Molecular function • rRNA (adenine-N6,N6-)-dimethyltransferase activity • DNA binding • protein binding • poly(A) RNA binding Cellular component • mitochondrial matrix • mitochondrial nucleoid Biological process • transcription, DNA-templated • regulation of transcription, DNA-templated • organelle organization • mitochondrion organization • rRNA methylation Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	51106	224481
Ensembl	ENSG00000029639	ENSMUSG00000036983
UniProt	Q8WVM0	Q8JZM0
RefSeq (mRNA)	NM_016020	NM_146074
RefSeq (protein)	NP_057104	NP_666186
Location (UCSC)	Chr 6: 155.26 – 155.31 Mb	Chr 17: 3.52 – 3.56 Mb
PubMed search

Dimethyladenosine transferase 1, mitochondrial; Transcription factor B1, mitochondrial is a mitochondrial enzyme that in humans is encoded by the TFB1M gene.^[1][2][3] 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.^[2][4][5]

Additionally, TFB1M has been demonstrated to stimulate transcription from promoter templates in an in vitro system containing recombinant mitochondrial RNA polymerase and TFAM.^[6] There are no experimental data demonstrating that this function occurs in vivo.

Interactions

TFB1M has been shown to interact with TFAM.^[7]

References

1. Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (Aug 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Res 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.
2. McCulloch V, Seidel-Rogol BL, Shadel GS (Jan 2002). "A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine". Mol Cell Biol 22 (4): 1116–25. doi:10.1128/MCB.22.4.1116-1125.2002. PMC 134642. PMID 11809803.
3. "Entrez Gene: TFB1M transcription factor B1, mitochondrial".
4. Falkenberg M, Gaspari M, Rantanen A, et al. (2002). "Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA.". Nat. Genet. 31 (3): 289–94. doi:10.1038/ng909. PMID 12068295.
5. Metodiev MD, Lesko N, Park CB, Camara Y., Shi Y., Wibom R., Hultenby K., Gustafsson CM, Larsson NG. (Apr 2009). "Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome". Cell Metab. 9 (4): 386–97. doi:10.1016/j.cmet.2009.03.001. PMID 19356719.
6. Falkenberg M, Gaspari M, Rantanen A, et al. (2002). "Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA.". Nat. Genet. 31 (3): 289–94. doi:10.1038/ng909. PMID 12068295.
7. McCulloch, Vicki; Shadel Gerald S (Aug 2003). "Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity". Mol. Cell. Biol. (United States) 23 (16): 5816–24. doi:10.1128/MCB.23.16.5816-5824.2003. ISSN 0270-7306. PMC 166325. PMID 12897151.

Further reading

• Falkenberg M, Gaspari M, Rantanen A, et al. (2002). "Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA.". Nat. Genet. 31 (3): 289–94. doi:10.1038/ng909. PMID 12068295.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Seidel-Rogol BL, McCulloch V, Shadel GS (2003). "Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop.". Nat. Genet. 33 (1): 23–4. doi:10.1038/ng1064. PMID 12496758.
• Rantanen A, Gaspari M, Falkenberg M, et al. (2003). "Characterization of the mouse genes for mitochondrial transcription factors B1 and B2.". Mamm. Genome 14 (1): 1–6. doi:10.1007/s00335-002-2218-z. PMID 12532263.
• McCulloch V, Shadel GS (2003). "Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity.". Mol. Cell. Biol. 23 (16): 5816–24. doi:10.1128/MCB.23.16.5816-5824.2003. PMC 166325. PMID 12897151.
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6.". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404.
• Bykhovskaya Y, Mengesha E, Wang D, et al. (2004). "Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation.". Mol. Genet. Metab. 82 (1): 27–32. doi:10.1016/j.ymgme.2004.01.020. PMID 15110318.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Gleyzer N, Vercauteren K, Scarpulla RC (2005). "Control of mitochondrial transcription specificity factors (TFB1M and TFB2M) by nuclear respiratory factors (NRF-1 and NRF-2) and PGC-1 family coactivators.". Mol. Cell. Biol. 25 (4): 1354–66. doi:10.1128/MCB.25.4.1354-1366.2005. PMC 548005. PMID 15684387.
• Cotney J, Wang Z, Shadel GS (2007). "Relative abundance of the human mitochondrial transcription system and distinct roles for h-mtTFB1 and h-mtTFB2 in mitochondrial biogenesis and gene expression.". Nucleic Acids Res. 35 (12): 4042–54. doi:10.1093/nar/gkm424. PMC 1919481. PMID 17557812.