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Identification
HMDB Protein ID HMDBP09041
Secondary Accession Numbers
  • 14783
Name Dimethyladenosine transferase 1, mitochondrial
Synonyms
  1. Mitochondrial 12S rRNA dimethylase 1
  2. Mitochondrial transcription factor B1
  3. S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1
  4. h-mtTFB
  5. h-mtTFB1
  6. hTFB1M
  7. mtTFB1
Gene Name TFB1M
Protein Type Unknown
Biological Properties
General Function Involved in rRNA (adenine-N6,N6-)-dimethyltransferase activity
Specific Function S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity
Pathways Not Available
Reactions Not Available
GO Classification
Function
catalytic activity
transferase activity
rna methyltransferase activity
rrna (adenine) methyltransferase activity
rrna (adenine-n6,n6-)-dimethyltransferase activity
rrna methyltransferase activity
transferase activity, transferring one-carbon groups
methyltransferase activity
n-methyltransferase activity
Process
rna metabolic process
ncrna metabolic process
metabolic process
macromolecule metabolic process
cellular macromolecule metabolic process
rrna metabolic process
rrna processing
rrna modification
Cellular Location
  1. Mitochondrion
Gene Properties
Chromosome Location Chromosome:6
Locus 6q25.1-q25.3
SNPs TFB1M
Gene Sequence
>1041 bp
ATGGCTGCCTCCGGAAAACTCAGCACTTGCCGTCTCCCTCCGTTGCCCACGATTCGAGAA
ATCATTAAGTTGTTAAGACTGCAAGCAGCGAACGAGCTATCACAGAATTTCCTCCTGGAC
TTGAGGCTGACAGATAAGATTGTAAGGAAAGCTGGCAATCTGACAAATGCTTATGTTTAC
GAAGTGGGCCCTGGGCCAGGGGGAATCACAAGATCTATTCTTAATGCCGACGTCGCTGAA
CTTCTGGTGGTTGAAAAGGACACTCGATTTATTCCTGGATTACAGATGCTTTCTGATGCA
GCACCTGGGAAACTGAGAATTGTTCATGGAGATGTCTTGACATTTAAGGTAGAAAAGGCT
TTTTCAGAAAGTCTTAAAAGACCCTGGGAAGATGATCCTCCAAATGTACATATTATTGGA
AATCTGCCTTTTAGTGTTTCAACTCCACTGATTATCAAGTGGCTTGAAAATATTTCCTGT
AGAGATGGACCTTTTGTTTATGGCAGAACTCAGATGACTTTGACTTTTCAAAAGGAAGTG
GCAGAGAGACTTGCAGCCAATACAGGAAGCAAACAGCGTAGTCGCCTCTCTGTTATGGCT
CAGTACCTCTGCAATGTTCGACACATCTTTACAATTCCAGGACAAGCTTTTGTCCCCAAA
CCAGAGGTGGACGTGGGCGTGGTGCACTTCACTCCCTTGATACAGCCCAAGATAGAGCAG
CCATTCAAGCTGGTGGAAAAAGTGGTTCAGAATGTATTTCAGTTCCGAAGGAAATACTGC
CATCGAGGGCTCAGAATGTTATTCCCTGAAGCGCAGCGCTTGGAAAGCACGGGCAGGCTG
TTAGAGTTGGCAGACATAGACCCTACTCTTCGGCCCCGCCAGCTCTCCATCTCACACTTT
AAGAGCCTCTGTGATGTATACAGAAAAATGTGTGATGAAGACCCACAACTCTTTGCATAT
AATTTCAGAGAAGAACTCAAGCGAAGAAAAAGCAAAAATGAAGAAAAAGAAGAGGATGAC
GCAGAGAATTACAGACTCTAG
Protein Properties
Number of Residues 346
Molecular Weight 39542.6
Theoretical pI 9.74
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Dimethyladenosine transferase 1, mitochondrial
MAASGKLSTCRLPPLPTIREIIKLLRLQAAKQLSQNFLLDLRLTDKIVRKAGNLTNAYVY
EVGPGPGGITRSILNADVAELLVVEKDTRFIPGLQMLSDAAPGKLRIVHGDVLTFKVEKA
FSESLKRPWEDDPPNVHIIGNLPFSVSTPLIIKWLENISCRDGPFVYGRTQMTLTFQKEV
AERLAANTGSKQRSRLSVMAQYLCNVRHIFTIPGQAFVPKPEVDVGVVHFTPLIQPKIEQ
PFKLVEKVVQNVFQFRRKYCHRGLRMLFPEAQRLESTGRLLELADIDPTLRPRQLSISHF
KSLCDVYRKMCDEDPQLFAYNFREELKRRKSKNEEKEEDDAENYRL
GenBank ID Protein 4929619
UniProtKB/Swiss-Prot ID Q8WVM0
UniProtKB/Swiss-Prot Entry Name TFB1M_HUMAN
PDB IDs Not Available
GenBank Gene ID AF151833
GeneCard ID TFB1M
GenAtlas ID TFB1M
HGNC ID HGNC:17037
References
General References
  1. Mungall AJ, Palmer SA, Sims SK, Edwards CA, Ashurst JL, Wilming L, Jones MC, Horton R, Hunt SE, Scott CE, Gilbert JG, Clamp ME, Bethel G, Milne S, Ainscough R, Almeida JP, Ambrose KD, Andrews TD, Ashwell RI, Babbage AK, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beare DM, Beasley H, Beasley O, Bird CP, Blakey S, Bray-Allen S, Brook J, Brown AJ, Brown JY, Burford DC, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Clark SY, Clark G, Clee CM, Clegg S, Cobley V, Collier RE, Collins JE, Colman LK, Corby NR, Coville GJ, Culley KM, Dhami P, Davies J, Dunn M, Earthrowl ME, Ellington AE, Evans KA, Faulkner L, Francis MD, Frankish A, Frankland J, French L, Garner P, Garnett J, Ghori MJ, Gilby LM, Gillson CJ, Glithero RJ, Grafham DV, Grant M, Gribble S, Griffiths C, Griffiths M, Hall R, Halls KS, Hammond S, Harley JL, Hart EA, Heath PD, Heathcott R, Holmes SJ, Howden PJ, Howe KL, Howell GR, Huckle E, Humphray SJ, Humphries MD, Hunt AR, Johnson CM, Joy AA, Kay M, Keenan SJ, Kimberley AM, King A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd CR, Lloyd DM, Loveland JE, Lovell J, Martin S, Mashreghi-Mohammadi M, Maslen GL, Matthews L, McCann OT, McLaren SJ, McLay K, McMurray A, Moore MJ, Mullikin JC, Niblett D, Nickerson T, Novik KL, Oliver K, Overton-Larty EK, Parker A, Patel R, Pearce AV, Peck AI, Phillimore B, Phillips S, Plumb RW, Porter KM, Ramsey Y, Ranby SA, Rice CM, Ross MT, Searle SM, Sehra HK, Sheridan E, Skuce CD, Smith S, Smith M, Spraggon L, Squares SL, Steward CA, Sycamore N, Tamlyn-Hall G, Tester J, Theaker AJ, Thomas DW, Thorpe A, Tracey A, Tromans A, Tubby B, Wall M, Wallis JM, West AP, White SS, Whitehead SL, Whittaker H, Wild A, Willey DJ, Wilmer TE, Wood JM, Wray PW, Wyatt JC, Young L, Younger RM, Bentley DR, Coulson A, Durbin R, Hubbard T, Sulston JE, Dunham I, Rogers J, Beck S: The DNA sequence and analysis of human chromosome 6. Nature. 2003 Oct 23;425(6960):805-11. [PubMed:14574404 ]
  2. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
  3. Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W: Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Genome Res. 2000 May;10(5):703-13. [PubMed:10810093 ]
  4. Falkenberg M, Gaspari M, Rantanen A, Trifunovic A, Larsson NG, Gustafsson CM: Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA. Nat Genet. 2002 Jul;31(3):289-94. Epub 2002 Jun 17. [PubMed:12068295 ]
  5. McCulloch V, Seidel-Rogol BL, Shadel GS: A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine. Mol Cell Biol. 2002 Feb;22(4):1116-25. [PubMed:11809803 ]
  6. McCulloch V, Shadel GS: 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. 2003 Aug;23(16):5816-24. [PubMed:12897151 ]
  7. Seidel-Rogol BL, McCulloch V, Shadel GS: Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop. Nat Genet. 2003 Jan;33(1):23-4. Epub 2002 Dec 23. [PubMed:12496758 ]
  8. Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N: Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. Mol Genet Metab. 2004 May;82(1):27-32. [PubMed:15110318 ]
  9. Gleyzer N, Vercauteren K, Scarpulla RC: 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. 2005 Feb;25(4):1354-66. [PubMed:15684387 ]