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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
  • MTDPS15 3
  • 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 Mitochondrial Dna Depletion Syndrome 15, Hepatocerebral Type and Skin Carcinoma In Situ. Among its related pathways are Mitochondrial Gene Expression and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G058383 1.1 ENCODE 16.4 +0.4 392 3.1 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 TFAM UBE2D1 LOC105378316
GH10G058322 1.5 FANTOM5 Ensembl ENCODE 11.7 -62.2 -62162 1.5 ELF3 FOXA2 INSM2 FEZF1 DMAP1 THRB RARA YY1 ZNF766 RELB CISD1 IPMK TFAM UBE2D1 ENSG00000261076 ENSG00000228527
GH10G059253 0.8 dbSUPER 21.9 +869.2 869150 0.8 ZFP64 ZNF140 ZNF266 ZNF101 ZNF697 ZNF433 ZNF202 ZNF654 ZNF426 REST TFAM PHYHIPL ENSG00000236556 FAM13C GC10M059173
GH10G058280 1.4 Ensembl ENCODE dbSUPER 11.7 -103.3 -103331 3.1 PKNOX1 FEZF1 ZNF2 GATA2 KLF7 FOS JUNB TSHZ1 REST TBX21 CISD1 TFAM UBE2D1 GC10P058299
GH10G059254 0.7 dbSUPER 21.9 +871.3 871348 3.3 ZNF140 ZNF266 ZNF101 ZNF697 ZNF664 ZNF433 ZNF202 ZNF654 ZNF426 ZBTB8A TFAM PHYHIPL ENSG00000236556 FAM13C GC10M059173
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000028299 578 2001 HDGF ARNT WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5
ENSR00000259707 -722 201 CTCF PKNOX1 FOXA2 BACH1 BMI1 ZBTB40 EED ZSCAN29 RELB ETV6

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

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 isoforms=252, Lys62, posLast=7676, and isoforms=2118
  • Modification sites at PhosphoSitePlus

Other Protein References for TFAM Gene

Antibody Products

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

Assay Products

  • Cloud-Clone Corp. Assay Kits for TFAM
  • Abcam assays for 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.
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:0001223 transcription coactivator binding IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IDA 18063578
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

CRISPR Products

miRNA for TFAM Gene

miRTarBase miRNAs that target TFAM

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TFAM
  • Applied Biological Materials Clones for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFAM gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
peroxisome 2
extracellular 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TFAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006356 regulation of transcription from RNA polymerase I promoter TAS 8333869
GO:0006366 transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with TFAM: view

Drugs & Compounds for TFAM Gene

(11) Drugs for TFAM Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TFAM
  • Applied Biological Materials Clones for TFAM

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TFAM Gene



Protein tissue co-expression partners for TFAM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TFAM Gene:

TFAM

SOURCE GeneReport for Unigene cluster for TFAM Gene:

Hs.594250

Evidence on tissue expression from TISSUES for TFAM Gene

  • Blood(4.4)
  • Nervous system(3.6)
  • Muscle(3)
  • Heart(2.6)
  • Liver(2.6)
  • Kidney(2.1)
  • Eye(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with TFAM: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TFAM 34 35
  • 99.19 (n)
dog
(Canis familiaris)
Mammalia TFAM 34 35
  • 84.49 (n)
cow
(Bos Taurus)
Mammalia TFAM 34 35
  • 83.19 (n)
rat
(Rattus norvegicus)
Mammalia Tfam 34
  • 73.59 (n)
mouse
(Mus musculus)
Mammalia Tfam 34 16 35
  • 73.31 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 43 (a)
OneToMany
-- 35
  • 42 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 40 (a)
OneToMany
-- 35
  • 38 (a)
OneToMany
chicken
(Gallus gallus)
Aves TFAM 34 35
  • 55.8 (n)
lizard
(Anolis carolinensis)
Reptilia TFAM 35
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfam 34
  • 53.78 (n)
zebrafish
(Danio rerio)
Actinopterygii tfam 34 35
  • 54.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta TFAM 34 35
  • 44.38 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008499 34
  • 41.8 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
OneToOne
Species where no ortholog for TFAM was found in the sources mined by GeneCards:
  • 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
rs757075712 Pathogenic, Mitochondrial DNA depletion syndrome 15, hepatocerebral type (MTDPS15) [MIM:617156] 58,390,856(+) TTCAC(C/T)GCAGG intron-variant, nc-transcript-variant, downstream-variant-500B, reference, missense
rs1000043515 -- 58,390,277(+) TCTTC(C/T)CTTTT intron-variant
rs1000525527 -- 58,383,486(+) GTGGA(C/T)TTTGT upstream-variant-2KB
rs1000756200 -- 58,388,359(+) TAAAA(A/C)ATAAT intron-variant
rs1000917854 -- 58,394,807(+) CATGT(A/G)GAATG intron-variant

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

(11) MalaCards diseases for TFAM Gene - From: Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial dna depletion syndrome 15, hepatocerebral type
  • mitochondrial dna depletion syndrome 15
skin carcinoma in situ
  • carcinoma in situ of skin
extrahepatic cholestasis
  • extrahepatic biliary stasis
deoxyguanosine kinase deficiency
  • dguok deficiency
mitochondrial dna depletion syndrome, hepatocerebral form
- elite association - COSMIC cancer census association via MalaCards
Search TFAM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TFAM_HUMAN
  • Mitochondrial DNA depletion syndrome 15, hepatocerebral type (MTDPS15) [MIM:617156]: An autosomal recessive mitochondrial disorder characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle. Hepatic pathology includes cirrhosis, steatosis and cholestasis. Progression to liver failure and death is rapid with no evidence of neurological impairment or other organ involvement. {ECO:0000269 PubMed:27448789}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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 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 22 46 64
  2. Mitochondrial transcription factor A variants and the risk of Parkinson's disease. (PMID: 19925850) Gaweda-Walerych K. … Zekanowski C. (Neurosci. Lett. 2010) 3 22 46 64
  3. 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 4 22 64
  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 22 46 64
  5. Mitochondrial transcription factor A (TFAM) gene variation in Parkinson's disease. (PMID: 18248889) Alvarez V. … Coto E. (Neurosci. Lett. 2008) 3 22 46 64

Products for TFAM Gene

  • Addgene plasmids for TFAM

Sources for TFAM Gene

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