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{{Infobox_gene}}
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'''Mitochondrial transcription factor A''', abbreviated as ''TFAM'' or ''mtTFA'', is a [[protein]] that in humans is encoded by the ''TFAM'' [[gene]].<ref name="pmid7789991">{{cite journal | vauthors = Tiranti V, Rossi E, Ruiz-Carrillo A, Rossi G, Rocchi M, DiDonato S, Zuffardi O, Zeviani M | title = 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 | journal = Genomics | volume = 25 | issue = 2 | pages = 559–64 | date = Jul 1995 | pmid = 7789991 | pmc =  | doi = 10.1016/0888-7543(95)80058-T }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: TFAM transcription factor A, mitochondrial| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7019| accessdate = }}</ref>
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Transcription factor A, mitochondrial
| HGNCid = 11741
| Symbol = TFAM
| AltSymbols =; MtTF1; TCF6; TCF6L2; mtTFA
| OMIM = 600438
| ECnumber = 
| Homologene = 31139
| MGIid = 107810
| GeneAtlas_image1 = PBB_GE_TFAM_203176_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_TFAM_208541_x_at_tn.png
| GeneAtlas_image3 = PBB_GE_TFAM_203177_x_at_tn.png
| Function = {{GNF_GO|id=GO:0003677 |text = DNA binding}} {{GNF_GO|id=GO:0003700 |text = transcription factor activity}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}}
| Process = {{GNF_GO|id=GO:0006261 |text = DNA-dependent DNA replication}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0006356 |text = regulation of transcription from RNA polymerase I promoter}} {{GNF_GO|id=GO:0006390 |text = transcription from mitochondrial promoter}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 7019
    | Hs_Ensembl = ENSG00000108064
    | Hs_RefseqProtein = NP_003192
    | Hs_RefseqmRNA = NM_003201
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 10
    | Hs_GenLoc_start = 59814788
    | Hs_GenLoc_end = 59828987
    | Hs_Uniprot = Q00059
    | Mm_EntrezGene = 21780
    | Mm_Ensembl = ENSMUSG00000003923
    | Mm_RefseqmRNA = NM_009360
    | Mm_RefseqProtein = NP_033386
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 10
    | Mm_GenLoc_start = 70620777
    | Mm_GenLoc_end = 70633344
    | Mm_Uniprot = Q3TSW9
  }}
}}
'''Transcription factor A, mitochondrial''', also known as '''TFAM''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: TFAM transcription factor A, mitochondrial| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7019| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez" />
{{PBB_Summary
TFAM is a double box [[High-mobility group]] DNA-binding and bending protein.<ref>{{cite journal | vauthors = Murugesapillai D, McCauley MJ, Maher LJ, Williams MC | title = Single-molecule studies of high-mobility group B architectural DNA bending proteins | journal = Biophysical Reviews | date = 15 November 2016 | doi = 10.1007/s12551-016-0236-4 }}</ref>
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: TFAM transcription factor A, mitochondrial| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7019| accessdate = }}</ref>
}}


==References==
== Interactions ==
{{reflist|2}}
 
==Further reading==
TFAM has been shown to [[Protein-protein interaction|interact]] with [[TFB1M]].<ref name=pmid12897151>{{cite journal | vauthors = McCulloch V, Shadel GS | title = Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity | journal = Mol. Cell. Biol. | volume = 23 | issue = 16 | pages = 5816–24 | date = Aug 2003 | pmid = 12897151 | pmc = 166325 | doi = 10.1128/MCB.23.16.5816-5824.2003 }}</ref>
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Tominaga K, Akiyama S, Kagawa Y, Ohta S | title = Upstream region of a genomic gene for human mitochondrial transcription factor 1. | journal = Biochim. Biophys. Acta | volume = 1131 | issue = 2 | pages = 217–9 | year = 1992 | pmid = 1610904 | doi = 10.1016/0167-4781(92)90082-b }}
| citations =
* {{cite journal | vauthors = Fisher RP, Lisowsky T, Parisi MA, Clayton DA | title = DNA wrapping and bending by a mitochondrial high mobility group-like transcriptional activator protein. | journal = J. Biol. Chem. | volume = 267 | issue = 5 | pages = 3358–67 | year = 1992 | pmid = 1737790 | doi =  }}
*{{cite journal | author=Tominaga K, Akiyama S, Kagawa Y, Ohta S |title=Upstream region of a genomic gene for human mitochondrial transcription factor 1. |journal=Biochim. Biophys. Acta |volume=1131 |issue= 2 |pages= 217-9 |year= 1992 |pmid= 1610904 |doi= }}
* {{cite journal | vauthors = Parisi MA, Clayton DA | title = Similarity of human mitochondrial transcription factor 1 to high mobility group proteins. | journal = Science | volume = 252 | issue = 5008 | pages = 965–9 | year = 1991 | pmid = 2035027 | doi = 10.1126/science.2035027 }}
*{{cite journal | author=Fisher RP, Lisowsky T, Parisi MA, Clayton DA |title=DNA wrapping and bending by a mitochondrial high mobility group-like transcriptional activator protein. |journal=J. Biol. Chem. |volume=267 |issue= 5 |pages= 3358-67 |year= 1992 |pmid= 1737790 |doi=  }}
* {{cite journal | vauthors = Tominaga K, Hayashi J, Kagawa Y, Ohta S | title = Smaller isoform of human mitochondrial transcription factor 1: its wide distribution and production by alternative splicing. | journal = Biochem. Biophys. Res. Commun. | volume = 194 | issue = 1 | pages = 544–51 | year = 1993 | pmid = 8333869 | doi = 10.1006/bbrc.1993.1854 }}
*{{cite journal | author=Parisi MA, Clayton DA |title=Similarity of human mitochondrial transcription factor 1 to high mobility group proteins. |journal=Science |volume=252 |issue= 5008 |pages= 965-9 |year= 1991 |pmid= 2035027 |doi= }}
* {{cite journal | vauthors = Larsson NG, Oldfors A, Garman JD, Barsh GS, Clayton DA | title = Down-regulation of mitochondrial transcription factor A during spermatogenesis in humans. | journal = Hum. Mol. Genet. | volume = 6 | issue = 2 | pages = 185–91 | year = 1997 | pmid = 9063738 | doi = 10.1093/hmg/6.2.185 }}
*{{cite journal | author=Tiranti V, Rossi E, Ruiz-Carrillo A, ''et al.'' |title=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. |journal=Genomics |volume=25 |issue= 2 |pages= 559-64 |year= 1995 |pmid= 7789991 |doi= }}
* {{cite journal | vauthors = Lezza AM, Pesce V, Cormio A, Fracasso F, Vecchiet J, Felzani G, Cantatore P, Gadaleta MN | title = Increased expression of mitochondrial transcription factor A and nuclear respiratory factor-1 in skeletal muscle from aged human subjects. | journal = FEBS Lett. | volume = 501 | issue = 1 | pages = 74–8 | year = 2001 | pmid = 11457459 | doi = 10.1016/S0014-5793(01)02628-X }}
*{{cite journal | author=Tominaga K, Hayashi J, Kagawa Y, Ohta S |title=Smaller isoform of human mitochondrial transcription factor 1: its wide distribution and production by alternative splicing. |journal=Biochem. Biophys. Res. Commun. |volume=194 |issue= 1 |pages= 544-51 |year= 1993 |pmid= 8333869 |doi= 10.1006/bbrc.1993.1854 }}
* {{cite journal | vauthors = Takamatsu C, Umeda S, Ohsato T, Ohno T, Abe Y, Fukuoh A, Shinagawa H, Hamasaki N, Kang D | title = Regulation of mitochondrial D-loops by transcription factor A and single-stranded DNA-binding protein. | journal = EMBO Rep. | volume = 3 | issue = 5 | pages = 451–6 | year = 2002 | pmid = 11964388 | pmc = 1084112 | doi = 10.1093/embo-reports/kvf099 }}
*{{cite journal | author=Larsson NG, Oldfors A, Garman JD, ''et al.'' |title=Down-regulation of mitochondrial transcription factor A during spermatogenesis in humans. |journal=Hum. Mol. Genet. |volume=6 |issue= 2 |pages= 185-91 |year= 1997 |pmid= 9063738 |doi= }}
* {{cite journal | vauthors = Falkenberg M, Gaspari M, Rantanen A, Trifunovic A, Larsson NG, Gustafsson CM | title = Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA. | journal = Nat. Genet. | volume = 31 | issue = 3 | pages = 289–94 | year = 2002 | pmid = 12068295 | doi = 10.1038/ng909 }}
*{{cite journal | author=Lezza AM, Pesce V, Cormio A, ''et al.'' |title=Increased expression of mitochondrial transcription factor A and nuclear respiratory factor-1 in skeletal muscle from aged human subjects. |journal=FEBS Lett. |volume=501 |issue= 1 |pages= 74-8 |year= 2001 |pmid= 11457459 |doi= }}
* {{cite journal | vauthors = Reyes A, Mezzina M, Gadaleta G | title = Human mitochondrial transcription factor A (mtTFA): gene structure and characterization of related pseudogenes. | journal = Gene | volume = 291 | issue = 1-2 | pages = 223–32 | year = 2002 | pmid = 12095695 | doi = 10.1016/S0378-1119(02)00600-5 }}
*{{cite journal | author=Takamatsu C, Umeda S, Ohsato T, ''et al.'' |title=Regulation of mitochondrial D-loops by transcription factor A and single-stranded DNA-binding protein. |journal=EMBO Rep. |volume=3 |issue= 5 |pages= 451-6 |year= 2002 |pmid= 11964388 |doi= 10.1093/embo-reports/kvf099 }}
* {{cite journal | vauthors = Yoshida Y, Izumi H, Ise T, Uramoto H, Torigoe T, Ishiguchi H, Murakami T, Tanabe M, Nakayama Y, Itoh H, Kasai H, Kohno K | title = Human mitochondrial transcription factor A binds preferentially to oxidatively damaged DNA. | journal = Biochem. Biophys. Res. Commun. | volume = 295 | issue = 4 | pages = 945–51 | year = 2002 | pmid = 12127986 | doi = 10.1016/S0006-291X(02)00757-X }}
*{{cite journal | author=Falkenberg M, Gaspari M, Rantanen A, ''et al.'' |title=Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA. |journal=Nat. Genet. |volume=31 |issue= 3 |pages= 289-94 |year= 2002 |pmid= 12068295 |doi= 10.1038/ng909 }}
* {{cite journal | vauthors = Garrido N, Griparic L, Jokitalo E, Wartiovaara J, van der Bliek AM, Spelbrink JN | title = Composition and dynamics of human mitochondrial nucleoids. | journal = Mol. Biol. Cell | volume = 14 | issue = 4 | pages = 1583–96 | year = 2003 | pmid = 12686611 | pmc = 153124 | doi = 10.1091/mbc.E02-07-0399 }}
*{{cite journal | author=Reyes A, Mezzina M, Gadaleta G |title=Human mitochondrial transcription factor A (mtTFA): gene structure and characterization of related pseudogenes. |journal=Gene |volume=291 |issue= 1-2 |pages= 223-32 |year= 2002 |pmid= 12095695 |doi= }}
* {{cite journal | vauthors = Yoshida Y, Izumi H, Torigoe T, Ishiguchi H, Itoh H, Kang D, Kohno K | title = P53 physically interacts with mitochondrial transcription factor A and differentially regulates binding to damaged DNA. | journal = Cancer Res. | volume = 63 | issue = 13 | pages = 3729–34 | year = 2003 | pmid = 12839966 | doi = }}
*{{cite journal | author=Yoshida Y, Izumi H, Ise T, ''et al.'' |title=Human mitochondrial transcription factor A binds preferentially to oxidatively damaged DNA. |journal=Biochem. Biophys. Res. Commun. |volume=295 |issue= 4 |pages= 945-51 |year= 2002 |pmid= 12127986 |doi= }}
* {{cite journal | vauthors = McCulloch V, Shadel GS | title = Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity. | journal = Mol. Cell. Biol. | volume = 23 | issue = 16 | pages = 5816–24 | year = 2003 | pmid = 12897151 | pmc = 166325 | doi = 10.1128/MCB.23.16.5816-5824.2003 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Deschauer M, Kiefer R, Blakely EL, He L, Zierz S, Turnbull DM, Taylor RW | title = A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. | journal = Neuromuscul. Disord. | volume = 13 | issue = 7-8 | pages = 568–72 | year = 2003 | pmid = 12921794 | doi = 10.1016/S0960-8966(03)00071-3 }}
*{{cite journal | author=Garrido N, Griparic L, Jokitalo E, ''et al.'' |title=Composition and dynamics of human mitochondrial nucleoids. |journal=Mol. Biol. Cell |volume=14 |issue= 4 |pages= 1583-96 |year= 2003 |pmid= 12686611 |doi= 10.1091/mbc.E02-07-0399 }}
* {{cite journal | vauthors = Günther C, von Hadeln K, Müller-Thomsen T, Alberici A, Binetti G, Hock C, Nitsch RM, Stoppe G, Reiss J, Gal A, Finckh U | title = Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease. | journal = Neurosci. Lett. | volume = 369 | issue = 3 | pages = 219–23 | year = 2005 | pmid = 15464268 | doi = 10.1016/j.neulet.2004.07.070 }}
*{{cite journal | author=Yoshida Y, Izumi H, Torigoe T, ''et al.'' |title=P53 physically interacts with mitochondrial transcription factor A and differentially regulates binding to damaged DNA. |journal=Cancer Res. |volume=63 |issue= 13 |pages= 3729-34 |year= 2003 |pmid= 12839966 |doi= }}
* {{cite journal | vauthors = Kanki T, Ohgaki K, Gaspari M, Gustafsson CM, Fukuoh A, Sasaki N, Hamasaki N, Kang D | title = Architectural role of mitochondrial transcription factor A in maintenance of human mitochondrial DNA. | journal = Mol. Cell. Biol. | volume = 24 | issue = 22 | pages = 9823–34 | year = 2004 | pmid = 15509786 | pmc = 525493 | doi = 10.1128/MCB.24.22.9823-9834.2004 }}
*{{cite journal | author=McCulloch V, Shadel GS |title=Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity. |journal=Mol. Cell. Biol. |volume=23 |issue= 16 |pages= 5816-24 |year= 2003 |pmid= 12897151 |doi= }}
* {{cite journal | vauthors = Cam H, Balciunaite E, Blais A, Spektor A, Scarpulla RC, Young R, Kluger Y, Dynlacht BD | title = A common set of gene regulatory networks links metabolism and growth inhibition. | journal = Mol. Cell | volume = 16 | issue = 3 | pages = 399–411 | year = 2004 | pmid = 15525513 | doi = 10.1016/j.molcel.2004.09.037 }}
*{{cite journal | author=Deschauer M, Kiefer R, Blakely EL, ''et al.'' |title=A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. |journal=Neuromuscul. Disord. |volume=13 |issue= 7-8 |pages= 568-72 |year= 2003 |pmid= 12921794 |doi= }}
*{{cite journal | author=Günther C, von Hadeln K, Müller-Thomsen T, ''et al.'' |title=Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease. |journal=Neurosci. Lett. |volume=369 |issue= 3 |pages= 219-23 |year= 2005 |pmid= 15464268 |doi= 10.1016/j.neulet.2004.07.070 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Kanki T, Ohgaki K, Gaspari M, ''et al.'' |title=Architectural role of mitochondrial transcription factor A in maintenance of human mitochondrial DNA. |journal=Mol. Cell. Biol. |volume=24 |issue= 22 |pages= 9823-34 |year= 2004 |pmid= 15509786 |doi= 10.1128/MCB.24.22.9823-9834.2004 }}
*{{cite journal  | author=Cam H, Balciunaite E, Blais A, ''et al.'' |title=A common set of gene regulatory networks links metabolism and growth inhibition. |journal=Mol. Cell |volume=16 |issue= 3 |pages= 399-411 |year= 2004 |pmid= 15525513 |doi= 10.1016/j.molcel.2004.09.037 }}
}}
{{refend}}
{{refend}}


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Latest revision as of 11:46, 15 September 2017

For museum, see Taipei Fine Arts Museum.
VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Mitochondrial transcription factor A, abbreviated as TFAM or mtTFA, is a protein that in humans is encoded by the TFAM gene.[1][2]

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.[2] TFAM is a double box High-mobility group DNA-binding and bending protein.[3]

Interactions

TFAM has been shown to interact with TFB1M.[4]

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 "Entrez Gene: TFAM transcription factor A, mitochondrial".
  3. ↑ 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. doi:10.1007/s12551-016-0236-4.
  4. ↑ 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.

Further reading


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