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Aliases for TFAM Gene

Aliases for TFAM Gene

  • Transcription Factor A, Mitochondrial 2 3
  • Mitochondrial Transcription Factor 1 3 4
  • Transcription Factor 6 3 4
  • TCF6L2 3 4
  • MTTF1 3 4
  • MTTFA 3 4
  • TCF6 3 4
  • Transcription Factor 6-Like 2 (Mitochondrial Transcription Factor) 3
  • Mitochondrial Transcription Factor A 3
  • Transcription Factor 6-Like 1 3
  • Transcription Factor 6-Like 3 3
  • Transcription Factor 6-Like 2 4
  • TCF6L1 3
  • TCF6L3 3
  • TCF-6 4

External Ids for TFAM Gene

Previous HGNC Symbols for TFAM Gene

  • TCF6
  • TCF6L2

Previous GeneCards Identifiers for TFAM Gene

  • GC10P058940
  • GC10P059170
  • GC10P060037
  • GC10P059490
  • GC10P059491
  • GC10P059815
  • GC10P060146
  • GC10P054134

Summaries for TFAM Gene

Entrez Gene Summary for TFAM Gene

  • This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

GeneCards Summary for TFAM Gene

TFAM (Transcription Factor A, Mitochondrial) is a Protein Coding gene. Diseases associated with TFAM include skin carcinoma in situ and extrahepatic cholestasis. Among its related pathways are PAK Pathway and TGF-Beta Pathway. GO annotations related to this gene include poly(A) RNA binding and chromatin binding.

UniProtKB/Swiss-Prot for TFAM Gene

  • Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation. Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase. Promotes transcription initiation from the HSP1 and the light strand promoter by binding immediately upstream of transcriptional start sites. Is able to unwind DNA. Bends the mitochondrial light strand promoter DNA into a U-turn shape via its HMG boxes. Required for maintenance of normal levels of mitochondrial DNA. May play a role in organizing and compacting mitochondrial DNA.

Gene Wiki entry for TFAM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFAM Gene

Genomics for TFAM Gene

Regulatory Elements for TFAM Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TFAM Gene

Chromosome:
10
Start:
58,385,022 bp from pter
End:
58,399,230 bp from pter
Size:
14,209 bases
Orientation:
Plus strand

Genomic View for TFAM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TFAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFAM Gene

Proteins for TFAM Gene

  • Protein details for TFAM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00059-TFAM_HUMAN
    Recommended name:
    Transcription factor A, mitochondrial
    Protein Accession:
    Q00059
    Secondary Accessions:
    • A8MRB2
    • A9QXC6
    • B5BU05
    • Q5U0C6

    Protein attributes for TFAM Gene

    Size:
    246 amino acids
    Molecular mass:
    29097 Da
    Quaternary structure:
    • Monomer; binds DNA as a monomer. Interacts with TFB1M and TFB2M. Interacts with CLPX; this enhances DNA-binding.

    Three dimensional structures from OCA and Proteopedia for TFAM Gene

    Alternative splice isoforms for TFAM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TFAM Gene

Proteomics data for TFAM Gene at MOPED

Post-translational modifications for TFAM Gene

  • Phosphorylation by PKA within the HMG box 1 impairs DNA binding and promotes degradation by the AAA+ Lon protease.
  • Ubiquitination at Lys 52, Lys 62, Lys 76, and Lys 118
  • Modification sites at PhosphoSitePlus

Other Protein References for TFAM Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TFAM (TFAM)

No data available for DME Specific Peptides for TFAM Gene

Domains & Families for TFAM Gene

Protein Domains for TFAM Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TFAM Gene

Graphical View of Domain Structure for InterPro Entry

Q00059

UniProtKB/Swiss-Prot:

TFAM_HUMAN :
  • Binds DNA via its HMG boxes. When bound to the mitochondrial light strand promoter, bends DNA into a U-turn shape, each HMG box bending the DNA by 90 degrees.
Domain:
  • Binds DNA via its HMG boxes. When bound to the mitochondrial light strand promoter, bends DNA into a U-turn shape, each HMG box bending the DNA by 90 degrees.
  • Contains 2 HMG box DNA-binding domains.
genes like me logo Genes that share domains with TFAM: view

No data available for Gene Families for TFAM Gene

Function for TFAM Gene

Molecular function for TFAM Gene

GENATLAS Biochemistry:
transcription factor A,mitochondrial
UniProtKB/Swiss-Prot Function:
Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation. Required for accurate and efficient promoter recognition by the mitochondrial RNA polymerase. Promotes transcription initiation from the HSP1 and the light strand promoter by binding immediately upstream of transcriptional start sites. Is able to unwind DNA. Bends the mitochondrial light strand promoter DNA into a U-turn shape via its HMG boxes. Required for maintenance of normal levels of mitochondrial DNA. May play a role in organizing and compacting mitochondrial DNA.

Gene Ontology (GO) - Molecular Function for TFAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 22037171
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IC --
GO:0003677 DNA binding --
GO:0003682 chromatin binding IDA 18063578
GO:0003700 transcription factor activity, sequence-specific DNA binding IMP 22037171
genes like me logo Genes that share ontologies with TFAM: view
genes like me logo Genes that share phenotypes with TFAM: view

Animal Models for TFAM Gene

MGI Knock Outs for TFAM:

Animal Model Products

miRNA for TFAM Gene

miRTarBase miRNAs that target TFAM

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TFAM Gene

Localization for TFAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFAM Gene

Mitochondrion. Mitochondrion matrix, mitochondrion nucleoid.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TFAM Gene COMPARTMENTS Subcellular localization image for TFAM gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 4
endoplasmic reticulum 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TFAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol TAS --
GO:0042645 mitochondrial nucleoid IDA 18063578
genes like me logo Genes that share ontologies with TFAM: view

Pathways & Interactions for TFAM Gene

genes like me logo Genes that share pathways with TFAM: view

SIGNOR curated interactions for TFAM Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TFAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006261 DNA-dependent DNA replication TAS 8333869
GO:0006338 chromatin remodeling IBA --
GO:0006356 regulation of transcription from RNA polymerase I promoter TAS 8333869
GO:0006366 transcription from RNA polymerase II promoter IC --
GO:0006390 transcription from mitochondrial promoter TAS --
genes like me logo Genes that share ontologies with TFAM: view

Drugs & Compounds for TFAM Gene

(9) Drugs for TFAM Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437
Caffeine Approved Nutra Activator 317
AICAR Experimental Pharma AMPK activator 0
ATP Pharma Activator 0
Calcium Nutra 0

(5) Additional Compounds for TFAM Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
diethyl dithiocarbamate
Fatty acid
glucose
lactate
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
genes like me logo Genes that share compounds with TFAM: view

Transcripts for TFAM Gene

Unigene Clusters for TFAM Gene

Transcription factor A, mitochondrial:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TFAM

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TFAM Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b
SP1: -
SP2: - - -
SP3: - -
SP4:

Relevant External Links for TFAM Gene

GeneLoc Exon Structure for
TFAM
ECgene alternative splicing isoforms for
TFAM

Expression for TFAM Gene

mRNA expression in normal human tissues for TFAM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TFAM Gene

This gene is overexpressed in Plasma (11.4) and Peripheral blood mononuclear cells (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TFAM Gene



SOURCE GeneReport for Unigene cluster for TFAM Gene Hs.594250

genes like me logo Genes that share expression patterns with TFAM: view

Protein tissue co-expression partners for TFAM Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TFAM Gene

Orthologs for TFAM Gene

This gene was present in the common ancestor of animals.

Orthologs for TFAM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TFAM 35
  • 83.19 (n)
  • 72.88 (a)
TFAM 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TFAM 35
  • 84.49 (n)
  • 71.84 (a)
TFAM 36
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tfam 35
  • 73.31 (n)
  • 63.56 (a)
Tfam 16
Tfam 36
  • 62 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TFAM 35
  • 99.19 (n)
  • 99.59 (a)
TFAM 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfam 35
  • 73.59 (n)
  • 64.41 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 43 (a)
OneToMany
-- 36
  • 42 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 40 (a)
OneToMany
-- 36
  • 38 (a)
OneToMany
chicken
(Gallus gallus)
Aves TFAM 35
  • 55.8 (n)
  • 44.49 (a)
TFAM 36
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TFAM 36
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfam 35
  • 53.78 (n)
  • 43.56 (a)
zebrafish
(Danio rerio)
Actinopterygii tfam 35
  • 54.35 (n)
  • 45.32 (a)
tfam 36
  • 36 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008499 35
  • 41.8 (n)
  • 30.94 (a)
fruit fly
(Drosophila melanogaster)
Insecta TFAM 35
  • 44.38 (n)
  • 35.87 (a)
TFAM 36
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToOne
Species with no ortholog for TFAM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TFAM Gene

ENSEMBL:
Gene Tree for TFAM (if available)
TreeFam:
Gene Tree for TFAM (if available)

Paralogs for TFAM Gene

(1) SIMAP similar genes for TFAM Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for TFAM Gene

genes like me logo Genes that share paralogs with TFAM: view

No data available for Paralogs for TFAM Gene

Variants for TFAM Gene

Sequence variations from dbSNP and Humsavar for TFAM Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs1937 - 58,385,582(+) GCTGA(C/G)TGCCC missense, reference, nc-transcript-variant
rs3876 -- 58,396,031(-) TCCTA(A/G)CTCAC utr-variant-3-prime, nc-transcript-variant
rs1049432 -- 58,395,360(+) ATGAA(G/T)TTTTT utr-variant-3-prime, nc-transcript-variant
rs2277256 -- 58,388,174(-) AAATA(A/G)AAAGA intron-variant
rs2279339 -- 58,385,238(-) GCGGC(G/T)CTGTT utr-variant-5-prime, nc-transcript-variant, upstream-variant-2KB

Variation tolerance for TFAM Gene

Residual Variation Intolerance Score: 41.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.88; 59.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TFAM Gene

HapMap Linkage Disequilibrium report
TFAM
Human Gene Mutation Database (HGMD)
TFAM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TFAM Gene

Disorders for TFAM Gene

MalaCards: The human disease database

(7) MalaCards diseases for TFAM Gene - From: DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
skin carcinoma in situ
  • carcinoma in situ of scalp and skin of neck
extrahepatic cholestasis
  • extrahepatic biliary stasis
alzheimer disease mitochondrial
  • ad-mt
autosomal dominant progressive external ophthalmoplegia
  • adpeo
merrf syndrome
  • myoclonus epilepsy and ragged red fibers
- elite association
Search TFAM in MalaCards View complete list of genes associated with diseases

Relevant External Links for TFAM

Genetic Association Database (GAD)
TFAM
Human Genome Epidemiology (HuGE) Navigator
TFAM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TFAM
genes like me logo Genes that share disorders with TFAM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TFAM Gene

Publications for TFAM Gene

  1. 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. (PMID: 7789991) Tiranti V. … Zeviani M. (Genomics 1995) 2 23 67
  2. SIRT1 mRNA expression may be associated with energy expenditure and insulin sensitivity. (PMID: 20107110) Rutanen J. … Laakso M. (Diabetes 2010) 23 67
  3. Mitochondrial transcription factor A variants and the risk of Parkinson's disease. (PMID: 19925850) Gaweda-Walerych K. … Zekanowski C. (Neurosci. Lett. 2010) 23 67
  4. A practical model of low-volume high-intensity interval training induces mitochondrial biogenesis in human skeletal muscle: potential mechanisms. (PMID: 20100740) Little J.P. … Gibala M.J. (J. Physiol. (Lond.) 2010) 23 67
  5. Peroxisome proliferator-activated receptor-gamma coactivator-1alpha overexpression increases lipid oxidation in myocytes from extremely obese individuals. (PMID: 20200320) Consitt L.A. … Houmard J.A. (Diabetes 2010) 23 67

Products for TFAM Gene

Sources for TFAM Gene

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