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UniProtKB - Q00059 (TFAM_HUMAN)

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Protein

Transcription factor A, mitochondrial

Gene

TFAM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Binds to the mitochondrial light strand promoter and functions in mitochondrial transcription regulation (PubMed:29445193). 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.7 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei58Intercalates between bases and promotes DNA bending1
Sitei182Intercalates between bases and promotes DNA bending1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi50 – 118HMG box 1PROSITE-ProRule annotationAdd BLAST69
DNA bindingi155 – 219HMG box 2PROSITE-ProRule annotationAdd BLAST65

GO - Molecular functioni

  • chromatin binding Source: UniProtKB
  • DNA binding, bending Source: UniProtKB
  • DNA binding transcription factor activity Source: UniProtKB
  • heat shock protein binding Source: Ensembl
  • mitochondrial promoter sequence-specific DNA binding Source: UniProtKB
  • mitochondrial sequence-specific DNA binding transcription factor activity Source: Ensembl
  • RNA binding Source: UniProtKB
  • sequence-specific DNA binding Source: UniProtKB
  • transcription coactivator binding Source: Ensembl
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • mitochondrial respiratory chain complex assembly Source: Ensembl
  • mitochondrial transcription Source: UniProtKB
  • mitochondrion organization Source: Reactome
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • transcription initiation from mitochondrial promoter Source: UniProtKB
View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-163282 Mitochondrial transcription initiation
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
SIGNORiQ00059

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor A, mitochondrial
Short name:
mtTFA
Alternative name(s):
Mitochondrial transcription factor 1
Short name:
MtTF1
Transcription factor 6
Short name:
TCF-6
Transcription factor 6-like 2
Gene namesi
Name:TFAM
Synonyms:TCF6, TCF6L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000108064.10
HGNCiHGNC:11741 TFAM
MIMi600438 gene
neXtProtiNX_Q00059

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion, Mitochondrion nucleoid

Pathology & Biotechi

Involvement in diseasei

Mitochondrial DNA depletion syndrome 15, hepatocerebral type (MTDPS15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:617156
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077842178P → L in MTDPS15. 1 PublicationCorresponds to variant dbSNP:rs757075712EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi77T → A: Moderate reduction in DNA bending. 1 Publication1
Mutagenesisi162Y → A: Moderate reduction in DNA bending. 1 Publication1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi7019
MalaCardsiTFAM
MIMi617156 phenotype
OpenTargetsiENSG00000108064
PharmGKBiPA36458

Polymorphism and mutation databases

DMDMi417324

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 42MitochondrionSequence analysisCombined sourcesAdd BLAST42
ChainiPRO_000001347043 – 246Transcription factor A, mitochondrialAdd BLAST204

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei55Phosphoserine; by PKA1 Publication1
Modified residuei56Phosphoserine; by PKA1 Publication1
Modified residuei61Phosphoserine; by PKA1 Publication1
Modified residuei122PhosphothreonineCombined sources1
Modified residuei160Phosphoserine; by PKA1 Publication1
Modified residuei193PhosphoserineCombined sources1
Modified residuei195PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylation by PKA within the HMG box 1 impairs DNA binding and promotes degradation by the AAA+ Lon protease.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ00059
MaxQBiQ00059
PaxDbiQ00059
PeptideAtlasiQ00059
PRIDEiQ00059
ProteomicsDBi57840
TopDownProteomicsiQ00059-1 [Q00059-1]

PTM databases

iPTMnetiQ00059
PhosphoSitePlusiQ00059

Expressioni

Gene expression databases

BgeeiENSG00000108064
CleanExiHS_TFAM
ExpressionAtlasiQ00059 baseline and differential
GenevisibleiQ00059 HS

Organism-specific databases

HPAiHPA040648
HPA063684

Interactioni

Subunit structurei

Monomer; binds DNA as a monomer. Upon metabolic stress, forms a complex composed of FOXO3, SIRT3, TFAM and POLRMT (PubMed:29445193). Interacts with TFB1M and TFB2M. Interacts with CLPX; this enhances DNA-binding.6 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi112877, 29 interactors
IntActiQ00059, 31 interactors
MINTiQ00059
STRINGi9606.ENSP00000420588

Structurei

Secondary structure

1246
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi45 – 48Combined sources4
Helixi56 – 71Combined sources16
Beta strandi73 – 75Combined sources3
Helixi77 – 90Combined sources14
Helixi93 – 120Combined sources28
Helixi123 – 151Combined sources29
Helixi161 – 173Combined sources13
Beta strandi175 – 177Combined sources3
Helixi178 – 190Combined sources13
Helixi194 – 217Combined sources24
Helixi228 – 230Combined sources3

3D structure databases

ProteinModelPortaliQ00059
SMRiQ00059
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ00059

Family & Domainsi

Domaini

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.2 Publications

Keywords - Domaini

Repeat, Transit peptide

Phylogenomic databases

eggNOGiKOG0381 Eukaryota
COG5648 LUCA
GeneTreeiENSGT00440000039001
HOGENOMiHOG000139423
HOVERGENiHBG106674
InParanoidiQ00059
KOiK11830
OMAiQRTKYDA
OrthoDBiEOG091G0SA8
PhylomeDBiQ00059
TreeFamiTF318343

Family and domain databases

Gene3Di1.10.30.10, 2 hits
InterProiView protein in InterPro
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
PF09011 HMG_box_2, 1 hit
SMARTiView protein in SMART
SM00398 HMG, 2 hits
SUPFAMiSSF47095 SSF47095, 2 hits
PROSITEiView protein in PROSITE
PS50118 HMG_BOX_2, 2 hits

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q00059-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAFLRSMWGV LSALGRSGAE LCTGCGSRLR SPFSFVYLPR WFSSVLASCP 
        60         70         80         90        100
KKPVSSYLRF SKEQLPIFKA QNPDAKTTEL IRRIAQRWRE LPDSKKKIYQ 
       110        120        130        140        150
DAYRAEWQVY KEEISRFKEQ LTPSQIMSLE KEIMDKHLKR KAMTKKKELT 
       160        170        180        190        200
LLGKPKRPRS AYNVYVAERF QEAKGDSPQE KLKTVKENWK NLSDSEKELY 
       210        220        230        240 
IQHAKEDETR YHNEMKSWEE QMIEVGRKDL LRRTIKKQRK YGAEEC
Length:246
Mass (Da):29,097
Last modified:October 1, 1993 - v1
Checksum:i81F00CFA12DA4924
GO
Isoform 2 (identifier: Q00059-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     148-179: Missing.

Note: Gene prediction based on EST data.
Show »
Length:214
Mass (Da):25,466
Checksum:iC3802AD446D4764D
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti34S → R in CAA45562 (PubMed:1610904).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01612412S → T3 PublicationsCorresponds to variant dbSNP:rs1937Ensembl.1
Natural variantiVAR_077842178P → L in MTDPS15. 1 PublicationCorresponds to variant dbSNP:rs757075712EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_047019148 – 179Missing in isoform 2. CuratedAdd BLAST32

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M62810 mRNA Translation: AAA59849.1
EU279428 mRNA Translation: ABX72056.1
BT019658 mRNA Translation: AAV38464.1
BT019659 mRNA Translation: AAV38465.1
AK312558 mRNA Translation: BAG35455.1
AB451241 mRNA Translation: BAG70055.1
AB451366 mRNA Translation: BAG70180.1
AC023170 Genomic DNA No translation available.
BC126366 mRNA Translation: AAI26367.1
X64269 Genomic DNA Translation: CAA45562.1
CCDSiCCDS59217.1 [Q00059-2]
CCDS7253.1 [Q00059-1]
PIRiJC1496
RefSeqiNP_001257711.1, NM_001270782.1 [Q00059-2]
NP_003192.1, NM_003201.2 [Q00059-1]
UniGeneiHs.594250

Genome annotation databases

EnsembliENST00000373895; ENSP00000363002; ENSG00000108064 [Q00059-2]
ENST00000487519; ENSP00000420588; ENSG00000108064 [Q00059-1]
GeneIDi7019
KEGGihsa:7019
UCSCiuc001jkf.5 human [Q00059-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTFAM_HUMAN
AccessioniPrimary (citable) accession number: Q00059
Secondary accession number(s): A8MRB2
, A9QXC6, B5BU05, Q5U0C6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: July 18, 2018
This is version 175 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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