Protein-coding gene in the species Homo sapiens
| TFB1M |
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| Available structures |
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| PDB | Ortholog search: PDBe RCSB |
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| List of PDB id codes |
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4GC5, 4GC9 |
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| Identifiers |
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| Aliases | TFB1M, CGI75, mtTFB, mtTFB1, CGI-75, transcription factor B1, mitochondrial |
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| External IDs | OMIM: 607033; MGI: 2146851; HomoloGene: 9343; GeneCards: TFB1M; OMA:TFB1M - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 6 (human)[1] |
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| | Band | 6q25.3 | Start | 155,256,134 bp[1] |
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| End | 155,314,493 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 17 (mouse)[2] |
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| | Band | 17|17 A1 | Start | 3,569,531 bp[2] |
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| End | 3,608,056 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| 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
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| | 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
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| | More reference expression data |
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| BioGPS |  | | More reference expression data |
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| Gene ontology |
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| 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | |
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NM_016020
NM_001350501
NM_001350502 |
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| RefSeq (protein) | |
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NP_057104
NP_001337430
NP_001337431 |
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| Location (UCSC) | Chr 6: 155.26 – 155.31 Mb | Chr 17: 3.57 – 3.61 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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]
Interactions
TFB1M has been shown to interact with TFAM.[12]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000029639 – Ensembl, May 2017
- ^ a b c 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.
- ^ a b 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.
