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Aliases for TFAM Gene

Aliases for TFAM Gene

  • Transcription Factor A, Mitochondrial 2 3 5
  • 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 ERK Signaling and Gene Expression. 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

Enhancers for TFAM Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TFAM on UCSC Golden Path with GeneCards custom track

Promoters for TFAM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TFAM on UCSC Golden Path with GeneCards custom track

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

Genes around TFAM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFAM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 18063578
GO:0003700 transcription factor activity, sequence-specific DNA binding IMP 22037171
GO:0005515 protein binding IPI 12897151
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) , Human Phenotype Ontology , 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
cytosol 5
mitochondrion 5
nucleus 5
endoplasmic reticulum 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TFAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol TAS --
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:0006356 regulation of transcription from RNA polymerase I promoter TAS 8333869
GO:0006366 transcription from RNA polymerase II promoter IC --
GO:0006391 transcription initiation from mitochondrial promoter TAS --
GO:0006996 organelle organization TAS --
GO:0007005 mitochondrion organization 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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

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

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
rs1937 - 58,385,582(+) GCTGA(C/G)TGCCC nc-transcript-variant, reference, missense
rs3876 -- 58,396,031(-) TCCTA(A/G)CTCAC nc-transcript-variant, utr-variant-3-prime
rs3830273 -- 58,386,083(-) CTAGA(-/GA)CTTAT intron-variant
rs3900887 -- 58,386,035(+) GAGAC(A/T)TCAGT intron-variant
rs4390300 -- 58,384,447(+) CTTAG(A/G)TATCT upstream-variant-2KB

Variation tolerance for TFAM Gene

Residual Variation Intolerance Score: 41.1% 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

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 ear
extrahepatic cholestasis
  • extrahepatic biliary stasis
alzheimer disease mitochondrial
  • ad-mt
mitochondrial disorders
  • mitochondrial encephalomyopathies
autosomal dominant progressive external ophthalmoplegia
  • adpeo
- elite association - COSMIC cancer census association via MalaCards
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. 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 48 67
  2. 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 3 23
  3. Mitochondrial transcription factor A variants and the risk of Parkinson's disease. (PMID: 19925850) Gaweda-Walerych K. … Zekanowski C. (Neurosci. Lett. 2010) 3 23
  4. 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
  5. Structural analysis and DNA binding of the HMG domains of the human mitochondrial transcription factor A. (PMID: 19304746) Gangelhoff T.A. … Churchill M.E. (Nucleic Acids Res. 2009) 3 23

Products for TFAM Gene

Sources for TFAM Gene

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