TFB1M

TFB1M
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4GC5, 4GC9
Identifiers
Aliases	TFB1M, CGI75, mtTFB, mtTFB1, CGI-75, transcription factor B1, mitochondrial
External IDs	OMIM: 607033; MGI: 2146851; HomoloGene: 9343; GeneCards: TFB1M; OMA:TFB1M - orthologs
Gene location (Human)
Chr.	Chromosome 6 (human)
End	155,314,493 bp
Gene location (Mouse)
Chr.	Chromosome 17 (mouse)
End	3,608,056 bp
RNA expression pattern
	Top expressed in
	right adrenal gland; ; right adrenal cortex; ; left adrenal gland; ; left adrenal cortex; ; left testis; ; right testis; ; right lobe of liver; ; testicle; ; Achilles tendon; ; mucosa of transverse colon;
	Top expressed in
	lumbar spinal ganglion; ; primary oocyte; ; seminiferous tubule; ; zygote; ; Paneth cell; ; lacrimal gland; ; endocardial cushion; ; secondary oocyte; ; left lobe of liver; ; atrioventricular junction;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	methyltransferase activity; transferase activity; DNA binding; rRNA methyltransferase activity; protein binding; rRNA (adenine-N6,N6-)-dimethyltransferase activity; RNA binding;
Cellular component	mitochondrial matrix; mitochondrial nucleoid; mitochondrion;
Biological process	rRNA processing; methylation; mitochondrion organization; regulation of transcription, DNA-templated; rRNA methylation; transcription, DNA-templated; rRNA modification;
	Sources:Amigo / QuickGO
Orthologs
	51106
	224481
	ENSG00000029639
	ENSMUSG00000036983
	Q8WVM0
	Q8JZM0
	NM_016020; NM_001350501; NM_001350502
	NM_146074
	NP_057104; NP_001337430; NP_001337431
	NP_666186
	Wikidata
View/Edit Human	View/Edit Mouse

Dimethyladenosine transferase 1, mitochondrial; Transcription factor B1, mitochondrial is a mitochondrial enzyme that is encoded by the TFB1M gene.⁵⁶⁷

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.⁶⁸⁹

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

Interactions

TFB1M has been shown to interact with TFAM.¹²

References

GRCh38: Ensembl release 89: ENSG00000029639 – Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000036983 – Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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.
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.
"Entrez Gene: TFB1M transcription factor B1, mitochondrial".
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. S2CID 11164308.
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.
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. S2CID 11164308.
Hillen, HS; Morozov, YI; Sarfallah, A; Temiakov, D; Cramer, P (16 November 2017). "Structural Basis of Mitochondrial Transcription Initiation". Cell. 171 (5): 1072–1081.e10. doi:10.1016/j.cell.2017.10.036. PMC 6590061. PMID 29149603.
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. 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. S2CID 11164308.
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. Bibcode:2002PNAS...9916899M. 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. S2CID 169443.
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. S2CID 25379746.
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. Bibcode:2003Natur.425..805M. 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000029639 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000036983 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10810093-5] 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.

[pmid11809803-6] 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.

[entrez-7] "Entrez Gene: TFB1M transcription factor B1, mitochondrial".

[pmid12068295-8] 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. S2CID 11164308.

[pmid19356719-9] 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.

[renamed_from_12068295_on_20140118095224-10] 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. S2CID 11164308.

[polrmt-11] Hillen, HS; Morozov, YI; Sarfallah, A; Temiakov, D; Cramer, P (16 November 2017). "Structural Basis of Mitochondrial Transcription Initiation". Cell. 171 (5): 1072–1081.e10. doi:10.1016/j.cell.2017.10.036. PMC 6590061. PMID 29149603.

[pmid12897151-12] 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. 23 (16): 5816–24. doi:10.1128/MCB.23.16.5816-5824.2003. ISSN 0270-7306. PMC 166325. PMID 12897151.

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