TFAM

TFAM
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3FGH, 3TMM, 3TQ6, 4NNU, 4NOD
Identifiers
Aliases	TFAM, MTTF1, MTTFA, TCF6, TCF6L1, TCF6L2, TCF6L3, transcription factor A, mitochondrial, MTDPS15
External IDs	OMIM: 600438; MGI: 107810; HomoloGene: 31139; GeneCards: TFAM; OMA:TFAM - orthologs
Gene location (Human)
Chr.	Chromosome 10 (human)
End	58,399,220 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	71,074,110 bp
RNA expression pattern
	Top expressed in
	Top expressed in
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
	Sources:Amigo / QuickGO
Orthologs
	7019
	21780
	ENSG00000108064
	ENSMUSG00000003923
	Q00059
	P40630
	NM_001270782; NM_003201; NM_012251
	NM_009360
	NP_001257711; NP_003192
	NP_033386
	Wikidata
View/Edit Human	View/Edit Mouse

Mitochondrial transcription factor A, abbreviated as TFAM or mtTFA, is a protein that in humans is encoded by the TFAM gene.^[5]^[6]

Function

This gene encodes a mitochondrial transcription factor that is a key activator of mitochondrial transcription as well as a participant in mitochondrial genome replication. TFAM binds mitochondrial promoter DNA to aid transcription of the mitochondrial genome. 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.^[6]

TFAM is a double box High-mobility group DNA-binding and bending protein.^[7] This bending action is important for mitochondrial transcription initiation in mammals, but not in yeasts with the homolog Abf2. TFAM may also participate in the packaging of the mitochondrial genome, as its binding activity is non-sequence-specific. ^[8]

Interactions

TFAM has been shown to interact with TFB1M and^[9] TFB2M.^[10]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000108064 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000003923 – 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.
^ Tiranti V, Rossi E, Ruiz-Carrillo A, Rossi G, Rocchi M, DiDonato S, Zuffardi O, Zeviani M (Jul 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. doi:10.1016/0888-7543(95)80058-T. PMID 7789991.
^ ^a ^b "Entrez Gene: TFAM transcription factor A, mitochondrial". Archived from the original on 2010-12-05. Retrieved 2017-09-15.
^ Murugesapillai D, McCauley MJ, Maher LJ, Williams MC (15 November 2016). "Single-molecule studies of high-mobility group B architectural DNA bending proteins". Biophysical Reviews. 9 (1): 17–40. doi:10.1007/s12551-016-0236-4. PMC 5331113. PMID 28303166.
^ Ngo, HB; Kaiser, JT; Chan, DC (30 October 2011). "The mitochondrial transcription and packaging factor Tfam imposes a U-turn on mitochondrial DNA". Nature Structural & Molecular Biology. 18 (11): 1290–6. doi:10.1038/nsmb.2159. PMC 3210390. PMID 22037171.
^ McCulloch V, Shadel GS (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. PMC 166325. PMID 12897151.
^ 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.

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. doi:10.1016/0167-4781(92)90082-b. 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. doi:10.1016/S0021-9258(19)50739-6. PMID 1737790.
Parisi MA, Clayton DA (1991). "Similarity of human mitochondrial transcription factor 1 to high mobility group proteins". Science. 252 (5008): 965–9. Bibcode:1991Sci...252..965P. doi:10.1126/science.2035027. PMID 2035027.
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, Barsh GS, Clayton DA (1997). "Down-regulation of mitochondrial transcription factor A during spermatogenesis in humans". Hum. Mol. Genet. 6 (2): 185–91. doi:10.1093/hmg/6.2.185. PMID 9063738.
Lezza AM, Pesce V, Cormio A, Fracasso F, Vecchiet J, Felzani G, Cantatore P, Gadaleta MN (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. doi:10.1016/S0014-5793(01)02628-X. PMID 11457459. S2CID 45160010.
Takamatsu C, Umeda S, Ohsato T, Ohno T, Abe Y, Fukuoh A, Shinagawa H, Hamasaki N, Kang D (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. PMC 1084112. PMID 11964388.
Falkenberg M, Gaspari M, Rantanen A, Trifunovic A, Larsson NG, Gustafsson CM (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.
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. doi:10.1016/S0378-1119(02)00600-5. PMID 12095695.
Yoshida Y, Izumi H, Ise T, Uramoto H, Torigoe T, Ishiguchi H, Murakami T, Tanabe M, Nakayama Y, Itoh H, Kasai H, Kohno K (2002). "Human mitochondrial transcription factor A binds preferentially to oxidatively damaged DNA". Biochem. Biophys. Res. Commun. 295 (4): 945–51. doi:10.1016/S0006-291X(02)00757-X. PMID 12127986.
Garrido N, Griparic L, Jokitalo E, Wartiovaara J, van der Bliek AM, Spelbrink JN (2003). "Composition and dynamics of human mitochondrial nucleoids". Mol. Biol. Cell. 14 (4): 1583–96. doi:10.1091/mbc.E02-07-0399. PMC 153124. PMID 12686611.
Yoshida Y, Izumi H, Torigoe T, Ishiguchi H, Itoh H, Kang D, Kohno K (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. doi:10.1128/MCB.23.16.5816-5824.2003. PMC 166325. PMID 12897151.
Deschauer M, Kiefer R, Blakely EL, He L, Zierz S, Turnbull DM, Taylor RW (2003). "A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia". Neuromuscul. Disord. 13 (7–8): 568–72. doi:10.1016/S0960-8966(03)00071-3. PMID 12921794. S2CID 23020569.
Günther C, von Hadeln K, Müller-Thomsen T, Alberici A, Binetti G, Hock C, Nitsch RM, Stoppe G, Reiss J, Gal A, Finckh U (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. S2CID 25710306.
Kanki T, Ohgaki K, Gaspari M, Gustafsson CM, Fukuoh A, Sasaki N, Hamasaki N, Kang D (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. PMC 525493. PMID 15509786.
Cam H, Balciunaite E, Blais A, Spektor A, Scarpulla RC, Young R, Kluger Y, Dynlacht BD (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.

External links

Overview of all the structural information available in the PDB for UniProt: Q00059 (Transcription factor A, mitochondrial) at the PDBe-KB.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000108064 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000003923 – 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.

[pmid7789991-5] Tiranti V, Rossi E, Ruiz-Carrillo A, Rossi G, Rocchi M, DiDonato S, Zuffardi O, Zeviani M (Jul 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. doi:10.1016/0888-7543(95)80058-T. PMID 7789991.

[entrez-6] "Entrez Gene: TFAM transcription factor A, mitochondrial". Archived from the original on 2010-12-05. Retrieved 2017-09-15.

[7] Murugesapillai D, McCauley MJ, Maher LJ, Williams MC (15 November 2016). "Single-molecule studies of high-mobility group B architectural DNA bending proteins". Biophysical Reviews. 9 (1): 17–40. doi:10.1007/s12551-016-0236-4. PMC 5331113. PMID 28303166.

[8] Ngo, HB; Kaiser, JT; Chan, DC (30 October 2011). "The mitochondrial transcription and packaging factor Tfam imposes a U-turn on mitochondrial DNA". Nature Structural & Molecular Biology. 18 (11): 1290–6. doi:10.1038/nsmb.2159. PMC 3210390. PMID 22037171.

[pmid12897151-9] McCulloch V, Shadel GS (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. PMC 166325. PMID 12897151.

[polrmt-10] 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.

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