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    TFAM transcription factor A, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 7019, updated on 16-Apr-2024

    Summary

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    Official Symbol
    TFAMprovided by HGNC
    Official Full Name
    transcription factor A, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:11741
    See related
    Ensembl:ENSG00000108064 MIM:600438; AllianceGenome:HGNC:11741
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TCF6; MTTF1; MTTFA; TCF6L1; TCF6L2; TCF6L3; MTDPS15
    Summary
    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]
    Expression
    Ubiquitous expression in testis (RPKM 11.2), thyroid (RPKM 9.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TFAM in Genome Data Viewer
    Location:
    10q21.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (58385410..58399220)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (59239514..59253326)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (60145170..60158980)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268068 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:60094430-60094930 Neighboring gene ubiquitin conjugating enzyme E2 D1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3385 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:60144914-60145570 Neighboring gene uncharacterized LOC105378316 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:60207389-60207551 Neighboring gene uncharacterized LOC124902427

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. TFAM-Mediated mitochondrial transfer of MSCs improved the permeability barrier in sepsis-associated acute lung injury. Zhang F, et al. Apoptosis, 2023 Aug. PMID 37060506
    2. Key Amino Acid Residues of Mitochondrial Transcription Factor A Synergize with Abasic (AP) Site Dynamics To Facilitate AP-Lyase Reactions. Zhao W, et al. ACS Chem Biol, 2023 May 19. PMID 36930463,
    3. Identifying Mitochondrial Transcription Factor A As a Potential Biomarker for the Carcinogenesis and Prognosis of Prostate Cancer. Tian Y, et al. Genet Test Mol Biomarkers, 2023 Jan. PMID 36719981, Free PMC Article
    4. Downregulated mitochondrial transcription factor A enhances mycoplasma infection to promote the metastasis of hepatocellular carcinoma. Wang Y, et al. Cancer Sci, 2023 Apr. PMID 36601865, Free PMC Article
    5. DNA-protein cross-links between abasic DNA damage and mitochondrial transcription factor A (TFAM). Xu W, et al. Nucleic Acids Res, 2023 Jan 11. PMID 36583367, Free PMC Article

    See all (306) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mitochondrial transcription factor A (TFAM) has 5'-deoxyribose phosphate lyase activity in vitro.
      Title: Mitochondrial transcription factor A (TFAM) has 5'-deoxyribose phosphate lyase activity in vitro.
    2. Melatonin attenuates sepsis-induced acute kidney injury by promoting mitophagy through SIRT3-mediated TFAM deacetylation.
      Title: Melatonin attenuates sepsis-induced acute kidney injury by promoting mitophagy through SIRT3-mediated TFAM deacetylation.
    3. Targeting mitochondrial transcription factor A sensitizes pancreatic cancer cell to gemcitabine.
      Title: Targeting mitochondrial transcription factor A sensitizes pancreatic cancer cell to gemcitabine.
    4. Altered H3K4me3 profile at the TFAM promoter causes mitochondrial alterations in preadipocytes from first-degree relatives of type 2 diabetics.
      Title: Altered H3K4me3 profile at the TFAM promoter causes mitochondrial alterations in preadipocytes from first-degree relatives of type 2 diabetics.
    5. TFAM knockdown undermines SQSTM1 mRNA stability but retards autophagy flux and inhibits tumor cells proliferation under starvation conditions.
      Title: TFAM knockdown undermines SQSTM1 mRNA stability but retards autophagy flux and inhibits tumor cells proliferation under starvation conditions.
    6. TFAM-Mediated mitochondrial transfer of MSCs improved the permeability barrier in sepsis-associated acute lung injury.
      Title: TFAM-Mediated mitochondrial transfer of MSCs improved the permeability barrier in sepsis-associated acute lung injury.
    7. The C-Terminal Tail of Mitochondrial Transcription Factor A Is Dispensable for Mitochondrial DNA Replication and Transcription In Situ.
      Title: The C-Terminal Tail of Mitochondrial Transcription Factor A Is Dispensable for Mitochondrial DNA Replication and Transcription In Situ.
    8. Key Amino Acid Residues of Mitochondrial Transcription Factor A Synergize with Abasic (AP) Site Dynamics To Facilitate AP-Lyase Reactions.
      Title: Key Amino Acid Residues of Mitochondrial Transcription Factor A Synergize with Abasic (AP) Site Dynamics To Facilitate AP-Lyase Reactions.
    9. Vitamin D receptor regulates transcription of mitochondrial DNA and directly interacts with mitochondrial DNA and TFAM.
      Title: Vitamin D receptor regulates transcription of mitochondrial DNA and directly interacts with mitochondrial DNA and TFAM.
    10. Downregulated mitochondrial transcription factor A enhances mycoplasma infection to promote the metastasis of hepatocellular carcinoma.
      Title: Downregulated mitochondrial transcription factor A enhances mycoplasma infection to promote the metastasis of hepatocellular carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (155)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study in Han Chinese identifies three novel loci for human height.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heat shock protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mitochondrial promoter sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mitochondrial transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription coactivator binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial respiratory chain complex assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial transcription IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transcription initiation at mitochondrial promoter IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transcription initiation at mitochondrial promoter IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus HDA PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transcription factor A, mitochondrial
    Names
    mitochondrial transcription factor 1
    mitochondrial transcription factor A
    transcription factor 6
    transcription factor 6-like 1
    transcription factor 6-like 2 (mitochondrial transcription factor)
    transcription factor 6-like 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_053006.1 RefSeqGene

      Range
      5268..19078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001270782.2 → NP_001257711.1  transcription factor A, mitochondrial isoform 2 precursor

      See identical proteins and their annotated locations for NP_001257711.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as tr6 or delta 5TFam) lacks an exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC023170, BM455062, CN478914
      Consensus CDS
      CCDS59217.1
      UniProtKB/TrEMBL
      E5KSX8
      Related
      ENSP00000363002.3, ENST00000373895.7
      Conserved Domains (2) summary
      pfam00505
      Location:50 → 117
      HMG_box; HMG (high mobility group) box
      cl00082
      Location:156 → 186
      HMG-box; High Mobility Group (HMG)-box is found in a variety of eukaryotic chromosomal proteins and transcription factors. HMGs bind to the minor groove of DNA and have been classified by DNA binding preferences. Two phylogenically distinct groups of Class I ...

    2. NM_003201.3 → NP_003192.1  transcription factor A, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_003192.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as ref) encodes the longer isoform (1).
      Source sequence(s)
      AC023170, CN478914, M62810
      Consensus CDS
      CCDS7253.1
      UniProtKB/Swiss-Prot
      A8MRB2, A9QXC6, B5BU05, Q00059, Q5U0C6
      UniProtKB/TrEMBL
      E5KSU5, E5KSX8
      Related
      ENSP00000420588.1, ENST00000487519.6
      Conserved Domains (2) summary
      cd01390
      Location:155 → 216
      HMGB-UBF_HMG-box; class II and III members of the HMG-box superfamily of DNA-binding proteins. These proteins bind the minor groove of DNA in a non-sequence specific fashion and contain two or more tandem HMG boxes. Class II members include non-histone chromosomal ...
      pfam00505
      Location:50 → 117
      HMG_box; HMG (high mobility group) box

    RNA

    1. NR_073073.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as tr2) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC023170, BC029815, CN478914

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      58385410..58399220
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425697.1 → XP_047281653.1  transcription factor A, mitochondrial isoform X1

    2. XM_011540121.4 → XP_011538423.1  transcription factor A, mitochondrial isoform X2

      See identical proteins and their annotated locations for XP_011538423.1

      Conserved Domains (1) summary
      pfam00505
      Location:50 → 117
      HMG_box; HMG (high mobility group) box

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      59239514..59253326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366663.1 → XP_054222638.1  transcription factor A, mitochondrial isoform X1

    2. XM_054366664.1 → XP_054222639.1  transcription factor A, mitochondrial isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_012251.1: Suppressed sequence

      Description
      NM_012251.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q00059.1 GenPept UniProtKB/Swiss-Prot:Q00059

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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