UniProtKB - Q00059 (TFAM_HUMAN)
Transcription factor A, mitochondrial
TFAM
Functioni
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 58 | Intercalates between bases and promotes DNA bending | 1 | |
Sitei | 182 | Intercalates between bases and promotes DNA bending | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 50 – 118 | HMG box 1PROSITE-ProRule annotationAdd BLAST | 69 | |
DNA bindingi | 155 – 219 | HMG box 2PROSITE-ProRule annotationAdd BLAST | 65 |
GO - Molecular functioni
- chromatin binding Source: UniProtKB
- DNA binding, bending Source: GO_Central
- heat shock protein binding Source: Ensembl
- mitochondrial promoter sequence-specific DNA binding Source: UniProtKB
- mitochondrial sequence-specific DNA-binding transcription factor activity Source: GO_Central
- RNA binding Source: UniProtKB
- sequence-specific DNA binding Source: UniProtKB
- transcription coactivator binding Source: Ensembl
- transcription factor binding Source: GO_Central
GO - Biological processi
- chromatin remodeling Source: GO_Central
- mitochondrial respiratory chain complex assembly Source: Ensembl
- mitochondrial transcription Source: UniProtKB
- mitochondrion organization Source: Reactome
- positive regulation of transcription, DNA-templated Source: UniProtKB
- regulation of transcription, DNA-templated Source: GO_Central
- regulation of transcription by RNA polymerase II Source: GO_Central
- transcription initiation from mitochondrial promoter Source: UniProtKB
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q00059 |
Reactomei | R-HSA-163282, Mitochondrial transcription initiation R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis |
SIGNORi | Q00059 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor A, mitochondrialCuratedShort 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 | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000108064.10 |
HGNCi | HGNC:11741, TFAM |
MIMi | 600438, gene |
neXtProti | NX_Q00059 |
Subcellular locationi
Mitochondrion
- Mitochondrion 4 Publications
- mitochondrion nucleoid 1 Publication
Cytosol
- cytosol Source: Reactome
Mitochondrion
- mitochondrial matrix Source: UniProtKB
- mitochondrial nucleoid Source: UniProtKB
- mitochondrion Source: HPA
Nucleus
- nuclear chromatin Source: GO_Central
- nucleus Source: UniProtKB
Other locations
- protein-containing complex Source: UniProtKB
Keywords - Cellular componenti
Mitochondrion, Mitochondrion nucleoidPathology & Biotechi
Involvement in diseasei
Mitochondrial DNA depletion syndrome 15, hepatocerebral type (MTDPS15)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077842 | 178 | P → L in MTDPS15. 1 PublicationCorresponds to variant dbSNP:rs757075712EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 77 | T → A: Moderate reduction in DNA bending. 1 Publication | 1 | |
Mutagenesisi | 162 | Y → A: Moderate reduction in DNA bending. 1 Publication | 1 |
Keywords - Diseasei
Disease mutation, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 7019 |
MalaCardsi | TFAM |
MIMi | 617156, phenotype |
OpenTargetsi | ENSG00000108064 |
PharmGKBi | PA36458 |
Miscellaneous databases
Pharosi | Q00059, Tbio |
Polymorphism and mutation databases
BioMutai | TFAM |
DMDMi | 417324 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 42 | MitochondrionSequence analysisCombined sourcesAdd BLAST | 42 | |
ChainiPRO_0000013470 | 43 – 246 | Transcription factor A, mitochondrialAdd BLAST | 204 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 55 | Phosphoserine; by PKA1 Publication | 1 | |
Modified residuei | 56 | Phosphoserine; by PKA1 Publication | 1 | |
Modified residuei | 61 | Phosphoserine; by PKA1 Publication | 1 | |
Modified residuei | 122 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 160 | Phosphoserine; by PKA1 Publication | 1 | |
Modified residuei | 193 | PhosphoserineCombined sources | 1 | |
Modified residuei | 195 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q00059 |
jPOSTi | Q00059 |
MassIVEi | Q00059 |
MaxQBi | Q00059 |
PaxDbi | Q00059 |
PeptideAtlasi | Q00059 |
PRIDEi | Q00059 |
ProteomicsDBi | 1958 57840 [Q00059-1] |
TopDownProteomicsi | Q00059-1 [Q00059-1] |
PTM databases
iPTMneti | Q00059 |
MetOSitei | Q00059 |
PhosphoSitePlusi | Q00059 |
SwissPalmi | Q00059 |
Expressioni
Gene expression databases
Bgeei | ENSG00000108064, Expressed in female gonad and 241 other tissues |
ExpressionAtlasi | Q00059, baseline and differential |
Genevisiblei | Q00059, HS |
Organism-specific databases
HPAi | ENSG00000108064, Low tissue specificity |
Interactioni
Subunit structurei
Monomer; binds DNA as a monomer (PubMed:19304746, PubMed:22037171, PubMed:22037172). Homodimer (PubMed:29149603).
Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT (PubMed:29149603). In this complex TFAM recruits POLRMT to the promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:29149603). Upon metabolic stress, forms a complex composed of FOXO3, SIRT3, TFAM and POLRMT (PubMed:29445193, PubMed:12897151).
Interacts with TFB1M and TFB2M (PubMed:12897151).
Interacts with CLPX; this enhances DNA-binding (PubMed:22841477).
7 PublicationsBinary interactionsi
Hide detailsQ00059
GO - Molecular functioni
- heat shock protein binding Source: Ensembl
- transcription coactivator binding Source: Ensembl
- transcription factor binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 112877, 89 interactors |
IntActi | Q00059, 95 interactors |
MINTi | Q00059 |
STRINGi | 9606.ENSP00000420588 |
Miscellaneous databases
RNActi | Q00059, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q00059 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q00059 |
Family & Domainsi
Domaini
Keywords - Domaini
Repeat, Transit peptidePhylogenomic databases
eggNOGi | KOG0381, Eukaryota |
GeneTreei | ENSGT00440000039001 |
HOGENOMi | CLU_083132_0_0_1 |
InParanoidi | Q00059 |
OMAi | DQQIYLE |
PhylomeDBi | Q00059 |
TreeFami | TF318343 |
Family and domain databases
Gene3Di | 1.10.30.10, 2 hits |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit PF09011, HMG_box_2, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 2 hits |
SUPFAMi | SSF47095, SSF47095, 2 hits |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH7BYN3 | H7BYN3_HUMAN | Transcription factor A, mitochondri... | TFAM | 219 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 34 | S → R in CAA45562 (PubMed:1610904).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016124 | 12 | S → T3 PublicationsCorresponds to variant dbSNP:rs1937EnsemblClinVar. | 1 | |
Natural variantiVAR_077842 | 178 | P → L in MTDPS15. 1 PublicationCorresponds to variant dbSNP:rs757075712EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_047019 | 148 – 179 | Missing in isoform 2. CuratedAdd BLAST | 32 |
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 |
CCDSi | CCDS59217.1 [Q00059-2] CCDS7253.1 [Q00059-1] |
PIRi | JC1496 |
RefSeqi | NP_001257711.1, NM_001270782.1 [Q00059-2] NP_003192.1, NM_003201.2 [Q00059-1] |
Genome annotation databases
Ensembli | ENST00000373895; ENSP00000363002; ENSG00000108064 [Q00059-2] ENST00000487519; ENSP00000420588; ENSG00000108064 [Q00059-1] |
GeneIDi | 7019 |
KEGGi | hsa:7019 |
UCSCi | uc001jkf.5, human [Q00059-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS59217.1 [Q00059-2] CCDS7253.1 [Q00059-1] |
PIRi | JC1496 |
RefSeqi | NP_001257711.1, NM_001270782.1 [Q00059-2] NP_003192.1, NM_003201.2 [Q00059-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
3FGH | X-ray | 1.35 | A | 153-218 | [»] | |
3TMM | X-ray | 2.50 | A | 43-246 | [»] | |
3TQ6 | X-ray | 2.45 | A/B | 43-246 | [»] | |
4NNU | X-ray | 2.81 | A/B | 43-237 | [»] | |
4NOD | X-ray | 2.90 | A/B/G/H | 43-237 | [»] | |
6ERP | X-ray | 4.50 | C/G | 43-245 | [»] | |
6ERQ | X-ray | 4.50 | C/G | 43-245 | [»] | |
6HB4 | X-ray | 3.05 | A/D/G/J | 42-246 | [»] | |
6HC3 | X-ray | 3.10 | A/D/G/J | 34-246 | [»] | |
SMRi | Q00059 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 112877, 89 interactors |
IntActi | Q00059, 95 interactors |
MINTi | Q00059 |
STRINGi | 9606.ENSP00000420588 |
PTM databases
iPTMneti | Q00059 |
MetOSitei | Q00059 |
PhosphoSitePlusi | Q00059 |
SwissPalmi | Q00059 |
Polymorphism and mutation databases
BioMutai | TFAM |
DMDMi | 417324 |
Proteomic databases
EPDi | Q00059 |
jPOSTi | Q00059 |
MassIVEi | Q00059 |
MaxQBi | Q00059 |
PaxDbi | Q00059 |
PeptideAtlasi | Q00059 |
PRIDEi | Q00059 |
ProteomicsDBi | 1958 57840 [Q00059-1] |
TopDownProteomicsi | Q00059-1 [Q00059-1] |
Protocols and materials databases
Antibodypediai | 14209, 528 antibodies |
DNASUi | 7019 |
Genome annotation databases
Ensembli | ENST00000373895; ENSP00000363002; ENSG00000108064 [Q00059-2] ENST00000487519; ENSP00000420588; ENSG00000108064 [Q00059-1] |
GeneIDi | 7019 |
KEGGi | hsa:7019 |
UCSCi | uc001jkf.5, human [Q00059-1] |
Organism-specific databases
CTDi | 7019 |
DisGeNETi | 7019 |
EuPathDBi | HostDB:ENSG00000108064.10 |
GeneCardsi | TFAM |
HGNCi | HGNC:11741, TFAM |
HPAi | ENSG00000108064, Low tissue specificity |
MalaCardsi | TFAM |
MIMi | 600438, gene 617156, phenotype |
neXtProti | NX_Q00059 |
OpenTargetsi | ENSG00000108064 |
PharmGKBi | PA36458 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0381, Eukaryota |
GeneTreei | ENSGT00440000039001 |
HOGENOMi | CLU_083132_0_0_1 |
InParanoidi | Q00059 |
OMAi | DQQIYLE |
PhylomeDBi | Q00059 |
TreeFami | TF318343 |
Enzyme and pathway databases
PathwayCommonsi | Q00059 |
Reactomei | R-HSA-163282, Mitochondrial transcription initiation R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis |
SIGNORi | Q00059 |
Miscellaneous databases
BioGRID-ORCSi | 7019, 466 hits in 868 CRISPR screens |
ChiTaRSi | TFAM, human |
EvolutionaryTracei | Q00059 |
GeneWikii | TFAM |
GenomeRNAii | 7019 |
Pharosi | Q00059, Tbio |
PROi | PR:Q00059 |
RNActi | Q00059, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000108064, Expressed in female gonad and 241 other tissues |
ExpressionAtlasi | Q00059, baseline and differential |
Genevisiblei | Q00059, HS |
Family and domain databases
Gene3Di | 1.10.30.10, 2 hits |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit PF09011, HMG_box_2, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 2 hits |
SUPFAMi | SSF47095, SSF47095, 2 hits |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TFAM_HUMAN | |
Accessioni | Q00059Primary (citable) accession number: Q00059 Secondary accession number(s): A8MRB2 Q5U0C6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1993 |
Last sequence update: | October 1, 1993 | |
Last modified: | December 2, 2020 | |
This is version 193 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations