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Protein

Transcription factor A, mitochondrial

Gene

TFAM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.6 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
  • mitochondrial light strand promoter sense binding Source: UniProtKB
  • poly(A) RNA binding Source: UniProtKB
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: NTNU_SB
  • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding Source: NTNU_SB
  • transcription factor activity, sequence-specific DNA binding Source: UniProtKB

GO - Biological processi

  • DNA-dependent DNA replication Source: ProtInc
  • mitochondrial respiratory chain complex assembly Source: Ensembl
  • mitochondrion organization Source: Reactome
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  • regulation of transcription from RNA polymerase I promoter Source: ProtInc
  • transcription from mitochondrial promoter Source: UniProtKB
  • transcription initiation from mitochondrial promoter Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108064-MONOMER.
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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:11741. TFAM.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • mitochondrial matrix Source: Reactome
  • mitochondrial nucleoid Source: BHF-UCL
  • mitochondrion Source: HPA
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion, Mitochondrion nucleoid

Pathology & Biotechi

Mutagenesis

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

Organism-specific databases

DisGeNETi7019.
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.
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. Interacts with TFB1M and TFB2M. Interacts with CLPX; this enhances DNA-binding.5 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
AGTRAPQ6RW133EBI-1049924,EBI-741181
ARL6IP1Q150413EBI-1049924,EBI-714543
TFB1MQ8WVM02EBI-1049924,EBI-2615570

Protein-protein interaction databases

BioGridi112877. 25 interactors.
IntActiQ00059. 13 interactors.
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

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3FGHX-ray1.35A153-218[»]
3TMMX-ray2.50A43-246[»]
3TQ6X-ray2.45A/B43-246[»]
4NNUX-ray2.81A/B43-237[»]
4NODX-ray2.90A/B/G/H43-237[»]
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

Sequence similaritiesi

Contains 2 HMG box DNA-binding domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, Transit peptide

Phylogenomic databases

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

Family and domain databases

Gene3Di1.10.30.10. 2 hits.
InterProiIPR009071. HMG_box_dom.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
PF09011. HMG_box_2. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 2 hits.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 2 hits.
PROSITEiPS50118. HMG_BOX_2. 2 hits.
[Graphical view]

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 → T.3 PublicationsCorresponds to variant rs1937dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3FGHX-ray1.35A153-218[»]
3TMMX-ray2.50A43-246[»]
3TQ6X-ray2.45A/B43-246[»]
4NNUX-ray2.81A/B43-237[»]
4NODX-ray2.90A/B/G/H43-237[»]
ProteinModelPortaliQ00059.
SMRiQ00059.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112877. 25 interactors.
IntActiQ00059. 13 interactors.
STRINGi9606.ENSP00000420588.

PTM databases

iPTMnetiQ00059.
PhosphoSitePlusiQ00059.

Polymorphism and mutation databases

DMDMi417324.

Proteomic databases

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

Protocols and materials databases

DNASUi7019.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi7019.
DisGeNETi7019.
GeneCardsiTFAM.
HGNCiHGNC:11741. TFAM.
HPAiHPA040648.
HPA063684.
MIMi600438. gene.
neXtProtiNX_Q00059.
OpenTargetsiENSG00000108064.
PharmGKBiPA36458.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

BioCyciZFISH:ENSG00000108064-MONOMER.
ReactomeiR-HSA-163282. Mitochondrial transcription initiation.
R-HSA-2151201. Transcriptional activation of mitochondrial biogenesis.
SIGNORiQ00059.

Miscellaneous databases

ChiTaRSiTFAM. human.
EvolutionaryTraceiQ00059.
GeneWikiiTFAM.
GenomeRNAii7019.
PROiQ00059.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000108064.
CleanExiHS_TFAM.
ExpressionAtlasiQ00059. baseline and differential.
GenevisibleiQ00059. HS.

Family and domain databases

Gene3Di1.10.30.10. 2 hits.
InterProiIPR009071. HMG_box_dom.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
PF09011. HMG_box_2. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 2 hits.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 2 hits.
PROSITEiPS50118. HMG_BOX_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTFAM_HUMAN
AccessioniPrimary (citable) accession number: Q00059
Secondary accession number(s): A8MRB2
, A9QXC6, B5BU05, Q5U0C6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: October 1, 1993
Last modified: November 2, 2016
This is version 160 of the entry and version 1 of the sequence. [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
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.