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Aliases for TFAM Gene

Aliases for TFAM Gene

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

External Ids for TFAM Gene

Previous Symbols for TFAM Gene

  • TCF6
  • TCF6L2

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 extrahepatic cholestasis and alzheimer disease. Among its related pathways are ERK Signaling and ERK Signaling. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and DNA binding, bending.

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

Genomic Location for TFAM Gene

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

Regulatory Elements 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.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys52, Lys62, Lys76, and Lys118

Other Protein References for TFAM Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for TFAM Gene

Domains for TFAM Gene

Protein Domains for TFAM Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

TFAM_HUMAN
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.:
    • Q00059
  • Contains 2 HMG box DNA-binding domains.:
    • Q00059
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 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IC --
GO:0003677 DNA binding --
GO:0003682 chromatin binding IDA 18063578
GO:0003700 sequence-specific DNA binding transcription factor activity 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:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 2
extracellular 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 for TFAM Gene

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

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:0006390 transcription from mitochondrial promoter TAS --
GO:0006391 transcription initiation from mitochondrial promoter TAS --
genes like me logo Genes that share ontologies with TFAM: view

Compounds for TFAM Gene

(14) Novoseek inferred chemical compound relationships for TFAM Gene

Compound -log(P) Hits PubMed IDs
citrate 49.8 4
atp 49.4 6
aicar 48.4 2
diethyl dithiocarbamate 38.3 2
oxygen 34.2 2
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:

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

Integrated Proteomics: protein expression 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 expressions with TFAM: view

Orthologs for TFAM Gene

This gene was present in the common ancestor of animals.

Orthologs for TFAM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TFAM 36
  • 99.19 (n)
  • 99.59 (a)
TFAM 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TFAM 36
  • 83.19 (n)
  • 72.88 (a)
TFAM 37
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TFAM 36
  • 84.49 (n)
  • 71.84 (a)
TFAM 37
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tfam 36
  • 73.31 (n)
  • 63.56 (a)
Tfam 16
Tfam 37
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 43 (a)
OneToMany
-- 37
  • 42 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 40 (a)
OneToMany
-- 37
  • 38 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tfam 36
  • 73.59 (n)
  • 64.41 (a)
chicken
(Gallus gallus)
Aves TFAM 36
  • 55.8 (n)
  • 44.49 (a)
TFAM 37
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TFAM 37
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfam 36
  • 53.78 (n)
  • 43.56 (a)
zebrafish
(Danio rerio)
Actinopterygii tfam 36
  • 54.35 (n)
  • 45.32 (a)
tfam 37
  • 36 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008499 36
  • 41.8 (n)
  • 30.94 (a)
fruit fly
(Drosophila melanogaster)
Insecta TFAM 36
  • 44.38 (n)
  • 35.87 (a)
TFAM 37
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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

Relevant External Links for TFAM Gene

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

No data available for Structural Variations from Database of Genomic Variants (DGV) for TFAM Gene

Disorders for TFAM Gene

(1) University of Copenhagen DISEASES for TFAM Gene

(9) Novoseek inferred disease relationships for TFAM Gene

Disease -log(P) Hits PubMed IDs
respiratory chain deficiency 67.5 1
mitochondrial diseases 46.2 1
mitochondrial myopathies 29 1
myopathy 20.6 1
insulin resistance 20 1

Relevant External Links for TFAM

Genetic Association Database (GAD)
TFAM
Human Genome Epidemiology (HuGE) Navigator
TFAM
genes like me logo Genes that share disorders with TFAM: view

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

Publications for TFAM Gene

  1. Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy. (PMID: 19096125) Alonso-Montes C. … Coto E. (Dis. Markers 2008) 3 4 23 49
  2. Maternal pregestational BMI is associated with methylation of the PPARGC1A promoter in newborns. (PMID: 19148128) Gemma C. … Pirola C.J. (Obesity (Silver Spring) 2009) 3 23 49
  3. Mitochondrial transcription factor A (TFAM) gene variation in Parkinson's disease. (PMID: 18248889) Alvarez V. … Coto E. (Neurosci. Lett. 2008) 3 23 49
  4. Mitochondrial transcription factor A (TFAM) gene variation and risk of late-onset Alzheimer's disease. (PMID: 18430995) Alvarez V. … Coto E. (J. Alzheimers Dis. 2008) 3 23 49
  5. Association study of two genetic variants in mitochondrial transcription factor A (TFAM) in Alzheimer's and Parkinson's disease. (PMID: 17537576) Belin A.C. … Olson L. (Neurosci. Lett. 2007) 3 23 49

Products for TFAM Gene

  • Addgene plasmids for TFAM

Sources for TFAM Gene

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