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

Summary

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

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
[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].
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.
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.
Targeting mitochondrial transcription factor A sensitizes pancreatic cancer cell to gemcitabine.
Title: Targeting mitochondrial transcription factor A sensitizes pancreatic cancer cell to gemcitabine.
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.
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.
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.
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.
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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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MedGen: C4310690 OMIM: 617156 GeneReviews: Mitochondrial DNA Maintenance Defects Overview	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AFMB080YD9 (e-PCR)
- UniSTS:66089

A007E45 (e-PCR)
- UniSTS:76905

G44309 (e-PCR)
- UniSTS:95102

SHGC-154285 (e-PCR)
- UniSTS:178050

RH70235 (e-PCR)
- UniSTS:6538

RH65397 (e-PCR)
- UniSTS:91533

NoName (e-PCR)
- UniSTS:491158

STS-M62810 (e-PCR)
- UniSTS:4027

GDB:313783 (e-PCR)
- UniSTS:13512

RH69158 (e-PCR)
- UniSTS:87755

RH48784 (e-PCR)
- UniSTS:54778

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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 more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleus	HDA more info	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

NG_053006.1 RefSeqGene

Range

5268..19078

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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

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

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

58385410..58399220

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060934.1 Alternate T2T-CHM13v2.0

Range

59239514..59253326

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054366663.1 → XP_054222638.1 transcription factor A, mitochondrial isoform X1
XM_054366664.1 → XP_054222639.1 transcription factor A, mitochondrial isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.