TFAM

Protein-coding gene in the species Homo sapiens

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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)[1]

Band| 10q21.1| Start| 58,385,345 bp[1]
End| 58,399,220 bp[1]
| Gene location (Mouse)

Chr.| Chromosome 10 (mouse)[2]

Band| 10 B5.3|10 36.83 cM| Start| 71,061,294 bp[2]
End| 71,074,110 bp[2]
| RNA expression pattern

Bgee| | Human| Mouse (ortholog)

|

| Top expressed in

* right testis

* left testis

* secondary oocyte

* Achilles tendon

* ventricular zone

* monocyte

* germinal epithelium

* ganglionic eminence

* mucosa of sigmoid colon

* gonad

| Top expressed in

* ventricular zone

* endocardial cushion

* atrioventricular valve

* abdominal wall

* embryo

* somite

* migratory enteric neural crest cell

* epiblast

* muscle of thigh

* triceps brachii muscle

More reference expression data
BioGPS| |

More reference expression data
| Gene ontology

Molecular function|

* DNA binding
* mitochondrial promoter sequence-specific DNA binding
* heat shock protein binding
* DNA-binding transcription factor activity
* DNA-binding transcription activator activity, RNA polymerase II-specific
* chromatin binding
* RNA polymerase II cis-regulatory region sequence-specific DNA binding
* protein binding
* transcription coactivator binding
* DNA binding, bending
* RNA binding
* sequence-specific DNA binding

Cellular component|

* cytosol
* mitochondrial matrix
* mitochondrion
* mitochondrial nucleoid
* nucleus
* protein-containing complex

Biological process|

* DNA-dependent DNA replication
* regulation of transcription, DNA-templated
* regulation of transcription by RNA polymerase I
* transcription initiation from mitochondrial promoter
* mitochondrion organization
* transcription, DNA-templated
* positive regulation of transcription, DNA-templated
* mitochondrial respiratory chain complex assembly
* positive regulation of transcription by RNA polymerase II
* transcription by RNA polymerase II
* mitochondrial transcription

Sources:Amigo / QuickGO
| Orthologs

Species| Human| Mouse
Entrez| |

7019

21780

Ensembl| |

ENSG00000108064

ENSMUSG00000003923

UniProt| |

Q00059

P40630

RefSeq (mRNA)| |

NM_001270782
NM_003201
NM_012251

NM_009360

RefSeq (protein)| |

NP_001257711
NP_003192

NP_033386

Location (UCSC)| Chr 10: 58.39 – 58.4 Mb| Chr 10: 71.06 – 71.07 Mb
PubMed search| [3]| [4]
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

[edit]

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

[edit]

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

## References

[edit]

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000108064 – Ensembl, May 2017
2. ^ a b c 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.
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.
6. ^ a b "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.
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.
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.

## Further reading

[edit]

* 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 12095695.1–2&rft.pages=223-32&rft.date=2002&rft_id=info:doi/10.1016/S0378-1119(02)00600-5&rft_id=info:pmid/12095695&rft.aulast=Reyes&rft.aufirst=A&rft.au=Mezzina,+M&rft.au=Gadaleta,+G&rfr_id=info:sid/en.wikipedia.org:TFAM" class="Z3988">
* 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 23020569.7–8&rft.pages=568-72&rft.date=2003&rft_id=https://api.semanticscholar.org/CorpusID:23020569#id-name=S2CID&rft_id=info:pmid/12921794&rft_id=info:doi/10.1016/S0960-8966(03)00071-3&rft.aulast=Deschauer&rft.aufirst=M&rft.au=Kiefer,+R&rft.au=Blakely,+EL&rft.au=He,+L&rft.au=Zierz,+S&rft.au=Turnbull,+DM&rft.au=Taylor,+RW&rfr_id=info:sid/en.wikipedia.org:TFAM" class="Z3988">
* 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

[edit]

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

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