TFAM
From Wikipedia, the free encyclopedia
Transcription factor A, mitochondrial
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Identifiers | ||||||||||||||
Symbol(s) | TFAM; MtTF1; TCF6; TCF6L2; mtTFA | |||||||||||||
External IDs | OMIM: 600438 MGI: 107810 HomoloGene: 31139 | |||||||||||||
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RNA expression pattern | ||||||||||||||
Orthologs | ||||||||||||||
Human | Mouse | |||||||||||||
Entrez | 7019 | 21780 | ||||||||||||
Ensembl | ENSG00000108064 | ENSMUSG00000003923 | ||||||||||||
Uniprot | Q00059 | Q3TSW9 | ||||||||||||
Refseq | NM_003201 (mRNA) NP_003192 (protein) |
NM_009360 (mRNA) NP_033386 (protein) |
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Location | Chr 10: 59.81 - 59.83 Mb | Chr 10: 70.62 - 70.63 Mb | ||||||||||||
Pubmed search | [1] | [2] |
Transcription factor A, mitochondrial, also known as TFAM, is a human gene.[1]
This gene encodes a mitochondrial transcription factor that is a key activator of mitochondrial transcription as well as a participant in mitochondrial genome replication. Studies in mice have demonstrated that this gene product is required to regulate the mitochondrial genome copy number and is essential for embryonic development. A mouse model for Kearns-Sayre syndrome was produced when expression of this gene was eliminated by targeted disruption in heart and muscle cells.[1]
[edit] References
[edit] Further reading
- Tominaga K, Akiyama S, Kagawa Y, Ohta S (1992). "Upstream region of a genomic gene for human mitochondrial transcription factor 1.". Biochim. Biophys. Acta 1131 (2): 217–9. PMID 1610904.
- Fisher RP, Lisowsky T, Parisi MA, Clayton DA (1992). "DNA wrapping and bending by a mitochondrial high mobility group-like transcriptional activator protein.". J. Biol. Chem. 267 (5): 3358–67. PMID 1737790.
- Parisi MA, Clayton DA (1991). "Similarity of human mitochondrial transcription factor 1 to high mobility group proteins.". Science 252 (5008): 965–9. PMID 2035027.
- Tiranti V, Rossi E, Ruiz-Carrillo A, et al. (1995). "Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis.". Genomics 25 (2): 559–64. PMID 7789991.
- Tominaga K, Hayashi J, Kagawa Y, Ohta S (1993). "Smaller isoform of human mitochondrial transcription factor 1: its wide distribution and production by alternative splicing.". Biochem. Biophys. Res. Commun. 194 (1): 544–51. doi: . PMID 8333869.
- Larsson NG, Oldfors A, Garman JD, et al. (1997). "Down-regulation of mitochondrial transcription factor A during spermatogenesis in humans.". Hum. Mol. Genet. 6 (2): 185–91. PMID 9063738.
- Lezza AM, Pesce V, Cormio A, et al. (2001). "Increased expression of mitochondrial transcription factor A and nuclear respiratory factor-1 in skeletal muscle from aged human subjects.". FEBS Lett. 501 (1): 74–8. PMID 11457459.
- Takamatsu C, Umeda S, Ohsato T, et al. (2002). "Regulation of mitochondrial D-loops by transcription factor A and single-stranded DNA-binding protein.". EMBO Rep. 3 (5): 451–6. doi: . PMID 11964388.
- 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: . PMID 12068295.
- Reyes A, Mezzina M, Gadaleta G (2002). "Human mitochondrial transcription factor A (mtTFA): gene structure and characterization of related pseudogenes.". Gene 291 (1-2): 223–32. PMID 12095695.
- Yoshida Y, Izumi H, Ise T, et al. (2002). "Human mitochondrial transcription factor A binds preferentially to oxidatively damaged DNA.". Biochem. Biophys. Res. Commun. 295 (4): 945–51. PMID 12127986.
- 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: . PMID 12477932.
- Garrido N, Griparic L, Jokitalo E, et al. (2003). "Composition and dynamics of human mitochondrial nucleoids.". Mol. Biol. Cell 14 (4): 1583–96. doi: . PMID 12686611.
- Yoshida Y, Izumi H, Torigoe T, et al. (2003). "P53 physically interacts with mitochondrial transcription factor A and differentially regulates binding to damaged DNA.". Cancer Res. 63 (13): 3729–34. PMID 12839966.
- 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. PMID 12897151.
- Deschauer M, Kiefer R, Blakely EL, et al. (2003). "A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.". Neuromuscul. Disord. 13 (7-8): 568–72. PMID 12921794.
- Günther C, von Hadeln K, Müller-Thomsen T, et al. (2005). "Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease.". Neurosci. Lett. 369 (3): 219–23. doi: . PMID 15464268.
- 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: . PMID 15489334.
- Kanki T, Ohgaki K, Gaspari M, et al. (2004). "Architectural role of mitochondrial transcription factor A in maintenance of human mitochondrial DNA.". Mol. Cell. Biol. 24 (22): 9823–34. doi: . PMID 15509786.
- Cam H, Balciunaite E, Blais A, et al. (2004). "A common set of gene regulatory networks links metabolism and growth inhibition.". Mol. Cell 16 (3): 399–411. doi: . PMID 15525513.