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

Gene ID: 7019, updated on 2-Nov-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
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (58385410..58399220)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (59239514..59253326)
RS_2024_09 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 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. Association of a polymorphism in mitochondrial transcription factor A (TFAM) with Parkinson's disease dementia but not dementia with Lewy bodies. Gatt AP, et al. Neurosci Lett, 2013 Dec 17. PMID 24184878
  2. Mitochondrial pathways to cardiac recovery: TFAM. Kunkel GH, et al. Heart Fail Rev, 2016 Sep. PMID 27166683, Free PMC Article
  3. Failed upregulation of TFAM protein and mitochondrial DNA in oxidatively deficient fibers of chronic obstructive pulmonary disease locomotor muscle. Konokhova Y, et al. Skelet Muscle, 2016. PMID 26893822, Free PMC Article
  4. Downregulation of TFAM inhibits the tumorigenesis of non-small cell lung cancer by activating ROS-mediated JNK/p38MAPK signaling and reducing cellular bioenergetics. Xie D, et al. Oncotarget, 2016 Mar 8. PMID 26820294, Free PMC Article
  5. Interaction of human mitochondrial transcription factor A in mitochondria: its involvement in the dynamics of mitochondrial DNA nucleoids. Kasashima K, et al. Genes Cells, 2015 Dec. PMID 26445116

See all (332) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Disrupted mitochondrial transcription factor A expression promotes mitochondrial dysfunction and enhances ocular surface inflammation by activating the absent in melanoma 2 inflammasome.
    Title: Disrupted mitochondrial transcription factor A expression promotes mitochondrial dysfunction and enhances ocular surface inflammation by activating the absent in melanoma 2 inflammasome.
  2. [Knockdown mitochondrial transcription factor A (TFAM) inhibits autophagy, proliferation, invasion and migration in human cervical cancer and osteosarcoma cells].
    Title: [Knockdown mitochondrial transcription factor A (TFAM) inhibits autophagy, proliferation, invasion and migration in human cervical cancer and osteosarcoma cells].
  3. 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.
  4. 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.
  5. Targeting mitochondrial transcription factor A sensitizes pancreatic cancer cell to gemcitabine.
    Title: Targeting mitochondrial transcription factor A sensitizes pancreatic cancer cell to gemcitabine.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (157)

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 HTP 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_2024_08

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

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