TFB1M

TFB1M
Identifiers
Aliases	TFB1M, CGI75, mtTFB, mtTFB1, CGI-75, transcription factor B1, mitochondrial
External IDs	OMIM: 607033; MGI: 2146851; GeneCards: TFB1M
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4GC5, 4GC9
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
Databases	NCBI: entry; OMA: entry
	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.^[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.^[8] There are no experimental data demonstrating that this function occurs in vivo; the paralogous TFB2M is more specific for this role.^[10]

Interactions

TFB1M has been shown to interact with TFAM.^[11]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000029639 – Ensembl, May 2017
1 2 3 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 (August 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Research. 10 (5): 703–713. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.
1 2 McCulloch V, Seidel-Rogol BL, Shadel GS (January 2002). "A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine". Molecular and Cellular Biology. 22 (4): 1116–1125. doi:10.1128/MCB.22.4.1116-1125.2002. PMC 134642. PMID 11809803.
↑ "Entrez Gene: TFB1M transcription factor B1, mitochondrial".
1 2 Falkenberg M, Gaspari M, Rantanen A, Trifunovic A, Larsson NG, Gustafsson CM (July 2002). "Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA". Nature Genetics. 31 (3): 289–294. doi:10.1038/ng909. PMID 12068295. S2CID 11164308.
↑ Metodiev MD, Lesko N, Park CB, Cámara Y, Shi Y, Wibom R, et al. (April 2009). "Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome". Cell Metabolism. 9 (4): 386–397. doi:10.1016/j.cmet.2009.03.001. PMID 19356719.
↑ Hillen HS, Morozov YI, Sarfallah A, Temiakov D, Cramer P (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 V, Shadel GS (August 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". Molecular and Cellular Biology. 23 (16): 5816–5824. doi:10.1128/MCB.23.16.5816-5824.2003. PMC 166325. PMID 12897151.

Seidel-Rogol BL, McCulloch V, Shadel GS (2003). "Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop". Nature Genetics. 33 (1): 23–24. doi:10.1038/ng1064. PMID 12496758. S2CID 169443.
Rantanen A, Gaspari M, Falkenberg M, Gustafsson CM, Larsson NG (January 2003). "Characterization of the mouse genes for mitochondrial transcription factors B1 and B2". Mammalian Genome. 14 (1): 1–6. doi:10.1007/s00335-002-2218-z. PMID 12532263. S2CID 25379746.
Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, et al. (May 2004). "Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation". Molecular Genetics and Metabolism. 82 (1): 27–32. doi:10.1016/j.ymgme.2004.01.020. PMID 15110318.
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". Molecular and Cellular Biology. 25 (4): 1354–1366. 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 Research. 35 (12): 4042–4054. doi:10.1093/nar/gkm424. PMC 1919481. PMID 17557812.

This article on a gene on human chromosome 6 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000029639 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[Lai_2000-5] Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W (August 2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Research. 10 (5): 703–713. doi:10.1101/gr.10.5.703. PMC 310876. PMID 10810093.

[McCulloch_2002-6] 1 2 McCulloch V, Seidel-Rogol BL, Shadel GS (January 2002). "A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine". Molecular and Cellular Biology. 22 (4): 1116–1125. doi:10.1128/MCB.22.4.1116-1125.2002. PMC 134642. PMID 11809803.

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

[Falkenberg_2002-8] 1 2 Falkenberg M, Gaspari M, Rantanen A, Trifunovic A, Larsson NG, Gustafsson CM (July 2002). "Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA". Nature Genetics. 31 (3): 289–294. doi:10.1038/ng909. PMID 12068295. S2CID 11164308.

[Metodiev_2009-9] Metodiev MD, Lesko N, Park CB, Cámara Y, Shi Y, Wibom R, et al. (April 2009). "Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome". Cell Metabolism. 9 (4): 386–397. doi:10.1016/j.cmet.2009.03.001. PMID 19356719.

[polrmt-10] Hillen HS, Morozov YI, Sarfallah A, Temiakov D, Cramer P (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_2003-11] McCulloch V, Shadel GS (August 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". Molecular and Cellular Biology. 23 (16): 5816–5824. doi:10.1128/MCB.23.16.5816-5824.2003. PMC 166325. PMID 12897151.

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[2]

[3]

[4]

[5]

[6]

[7]

[8]

[9]

[10]

[11]

Interactions

References

Further reading