TFAM

From Wikipedia, the free encyclopedia

Transcription factor A, mitochondrial

Identifiers

TFAM; MtTF1; TCF6; TCF6L2; mtTFA

External IDs

OMIM: 600438 MGI: 107810 HomoloGene: 31139

Gene ontology
Molecular Function:	• DNA binding • transcription factor activity
Cellular Component:	• mitochondrion
Biological Process:	• DNA-dependent DNA replication • transcription • regulation of transcription, DNA-dependent • regulation of transcription from RNA polymerase I promoter • transcription from mitochondrial promoter

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_003201 (mRNA)
NP_003192 (protein)

NM_009360 (mRNA)
NP_033386 (protein)

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

^ ^a ^b Entrez Gene: TFAM transcription factor A, mitochondrial.

[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:10.1006/bbrc.1993.1854. 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:10.1093/embo-reports/kvf099. 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:10.1038/ng909. 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:10.1073/pnas.242603899. 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:10.1091/mbc.E02-07-0399. 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:10.1016/j.neulet.2004.07.070. 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:10.1101/gr.2596504. 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:10.1128/MCB.24.22.9823-9834.2004. 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:10.1016/j.molcel.2004.09.037. PMID 15525513.