UniProtKB - Q9H5Q4 (TFB2M_HUMAN)
Protein
Dimethyladenosine transferase 2, mitochondrial
Gene
TFB2M
Organism
Homo sapiens (Human)
Status
Functioni
S-adenosyl-L-methionine-dependent rRNA methyltransferase which may methylate two specific adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 12S mitochondrial rRNA (Probable). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA (PubMed:29149603, PubMed:12068295, PubMed:20410300, PubMed:15526033). In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:29149603, PubMed:15526033). Stimulates transcription independently of the methyltransferase activity (PubMed:12897151).2 Publications5 Publications
Catalytic activityi
- adenosine in rRNA + S-adenosyl-L-methionine = H+ + N6-methyladenosine in rRNA + S-adenosyl-L-homocysteine1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 75 | S-adenosyl-L-methionine; via amide nitrogenPROSITE-ProRule annotation | 1 | |
Binding sitei | 124 | S-adenosyl-L-methioninePROSITE-ProRule annotation | 1 | |
Binding sitei | 150 | S-adenosyl-L-methioninePROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- mitochondrial sequence-specific DNA-binding transcription factor activity Source: GO_Central
- RNA binding Source: UniProtKB
- rRNA (adenine-N6,N6-)-dimethyltransferase activity Source: GO_Central
- transcription coregulator activity Source: InterPro
GO - Biological processi
- mitochondrial transcription Source: GO_Central
- mitochondrion organization Source: Reactome
- rRNA methylation Source: GO_Central
- transcription initiation from mitochondrial promoter Source: UniProtKB
Keywordsi
Molecular function | Methyltransferase, RNA-binding, Transferase |
Biological process | rRNA processing, Transcription, Transcription regulation |
Ligand | S-adenosyl-L-methionine |
Enzyme and pathway databases
PathwayCommonsi | Q9H5Q4 |
Reactomei | R-HSA-163282, Mitochondrial transcription initiation R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis |
Names & Taxonomyi
Protein namesi | Recommended name: Dimethyladenosine transferase 2, mitochondrialCurated (EC:2.1.1.-1 Publication)Alternative name(s): Hepatitis C virus NS5A-transactivated protein 5 Short name: HCV NS5A-transactivated protein 5 Mitochondrial 12S rRNA dimethylase 2 Mitochondrial transcription factor B2 Short name: h-mtTFB Short name: h-mtTFB2 Short name: hTFB2M Short name: mtTFB2 S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 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:ENSG00000162851.7 |
HGNCi | HGNC:18559, TFB2M |
MIMi | 607055, gene |
neXtProti | NX_Q9H5Q4 |
Subcellular locationi
Mitochondrion
Mitochondrion
- mitochondrial matrix Source: UniProtKB
- mitochondrial nucleoid Source: BHF-UCL
- mitochondrion Source: HPA
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 105 | G → A: Abolishes methyltransferase activity. 1 Publication | 1 | |
Mutagenesisi | 330 | R → A: Impairs transcription initiation; when associated with A-331. 1 Publication | 1 | |
Mutagenesisi | 331 | R → A: Impairs transcription initiation; when associated with A-330. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 64216 |
OpenTargetsi | ENSG00000162851 |
PharmGKBi | PA38348 |
Miscellaneous databases
Pharosi | Q9H5Q4, Tbio |
Polymorphism and mutation databases
BioMutai | TFB2M |
DMDMi | 74752681 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 19 | MitochondrionSequence analysisAdd BLAST | 19 | |
ChainiPRO_0000273179 | 20 – 396 | Dimethyladenosine transferase 2, mitochondrialAdd BLAST | 377 |
Proteomic databases
EPDi | Q9H5Q4 |
jPOSTi | Q9H5Q4 |
MassIVEi | Q9H5Q4 |
MaxQBi | Q9H5Q4 |
PaxDbi | Q9H5Q4 |
PeptideAtlasi | Q9H5Q4 |
PRIDEi | Q9H5Q4 |
ProteomicsDBi | 80926 |
PTM databases
iPTMneti | Q9H5Q4 |
MetOSitei | Q9H5Q4 |
PhosphoSitePlusi | Q9H5Q4 |
SwissPalmi | Q9H5Q4 |
Expressioni
Tissue specificityi
Ubiquitously expressed.1 Publication
Inductioni
By the nuclear respiratory factors NRF1 and NRF2/GABPB2 and PGC-1 coactivators.1 Publication
Gene expression databases
Bgeei | ENSG00000162851, Expressed in secondary oocyte and 235 other tissues |
Genevisiblei | Q9H5Q4, HS |
Organism-specific databases
HPAi | ENSG00000162851, Low tissue specificity |
Interactioni
Subunit structurei
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).
Interacts with mitochondrial RNA polymerase POLRMT (PubMed:12068295).
Interacts with TFAM (PubMed:12897151).
3 PublicationsProtein-protein interaction databases
BioGRIDi | 122106, 33 interactors |
DIPi | DIP-50540N |
IntActi | Q9H5Q4, 20 interactors |
STRINGi | 9606.ENSP00000355471 |
Miscellaneous databases
RNActi | Q9H5Q4, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q9H5Q4 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 330 – 331 | DNA bindingCombined sources1 Publication | 2 |
Sequence similaritiesi
Belongs to the class I-like SAM-binding methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family. KsgA subfamily.PROSITE-ProRule annotation
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG0820, Eukaryota |
GeneTreei | ENSGT00950000183142 |
HOGENOMi | CLU_051778_1_0_1 |
InParanoidi | Q9H5Q4 |
OMAi | GRCEMIL |
OrthoDBi | 1169941at2759 |
PhylomeDBi | Q9H5Q4 |
TreeFami | TF325100 |
Family and domain databases
InterProi | View protein in InterPro IPR001737, KsgA/Erm IPR020598, rRNA_Ade_methylase_Trfase_N IPR029063, SAM-dependent_MTases IPR016861, TFB2M |
PANTHERi | PTHR11727, PTHR11727, 1 hit PTHR11727:SF13, PTHR11727:SF13, 1 hit |
Pfami | View protein in Pfam PF00398, RrnaAD, 1 hit |
SMARTi | View protein in SMART SM00650, rADc, 1 hit |
SUPFAMi | SSF53335, SSF53335, 1 hit |
PROSITEi | View protein in PROSITE PS51689, SAM_RNA_A_N6_MT, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q9H5Q4-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MWIPVVGLPR RLRLSALAGA GRFCILGSEA ATRKHLPARN HCGLSDSSPQ
60 70 80 90 100
LWPEPDFRNP PRKASKASLD FKRYVTDRRL AETLAQIYLG KPSRPPHLLL
110 120 130 140 150
ECNPGPGILT QALLEAGAKV VALESDKTFI PHLESLGKNL DGKLRVIHCD
160 170 180 190 200
FFKLDPRSGG VIKPPAMSSR GLFKNLGIEA VPWTADIPLK VVGMFPSRGE
210 220 230 240 250
KRALWKLAYD LYSCTSIYKF GRIEVNMFIG EKEFQKLMAD PGNPDLYHVL
260 270 280 290 300
SVIWQLACEI KVLHMEPWSS FDIYTRKGPL ENPKRRELLD QLQQKLYLIQ
310 320 330 340 350
MIPRQNLFTK NLTPMNYNIF FHLLKHCFGR RSATVIDHLR SLTPLDARDI
360 370 380 390
LMQIGKQEDE KVVNMHPQDF KTLFETIERS KDCAYKWLYD ETLEDR
Sequence cautioni
The sequence BAB15441 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 200 – 201 | EK → GR in BAB15441 (PubMed:14702039).Curated | 2 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_071249 | 48 | S → F1 PublicationCorresponds to variant dbSNP:rs148620105Ensembl. | 1 | |
Natural variantiVAR_071250 | 64 | A → T2 PublicationsCorresponds to variant dbSNP:rs143880306Ensembl. | 1 | |
Natural variantiVAR_030097 | 156 | P → L. Corresponds to variant dbSNP:rs11585481Ensembl. | 1 | |
Natural variantiVAR_030098 | 264 | H → Y1 PublicationCorresponds to variant dbSNP:rs12037377Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF529366 mRNA Translation: AAQ09600.1 AK026314 mRNA Translation: BAB15441.1 Different initiation. AK026835 mRNA Translation: BAB15566.1 AL356583 Genomic DNA No translation available. BC003383 mRNA Translation: AAH03383.1 |
CCDSi | CCDS1627.1 |
RefSeqi | NP_071761.1, NM_022366.2 |
Genome annotation databases
Ensembli | ENST00000366514; ENSP00000355471; ENSG00000162851 |
GeneIDi | 64216 |
KEGGi | hsa:64216 |
UCSCi | uc001ibn.4, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF529366 mRNA Translation: AAQ09600.1 AK026314 mRNA Translation: BAB15441.1 Different initiation. AK026835 mRNA Translation: BAB15566.1 AL356583 Genomic DNA No translation available. BC003383 mRNA Translation: AAH03383.1 |
CCDSi | CCDS1627.1 |
RefSeqi | NP_071761.1, NM_022366.2 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
6ERO | X-ray | 1.75 | A/B | 63-267 | [»] | |
A/B | 295-396 | [»] | ||||
6ERP | X-ray | 4.50 | F/J | 21-396 | [»] | |
6ERQ | X-ray | 4.50 | F/J | 22-396 | [»] | |
SMRi | Q9H5Q4 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 122106, 33 interactors |
DIPi | DIP-50540N |
IntActi | Q9H5Q4, 20 interactors |
STRINGi | 9606.ENSP00000355471 |
PTM databases
iPTMneti | Q9H5Q4 |
MetOSitei | Q9H5Q4 |
PhosphoSitePlusi | Q9H5Q4 |
SwissPalmi | Q9H5Q4 |
Polymorphism and mutation databases
BioMutai | TFB2M |
DMDMi | 74752681 |
Proteomic databases
EPDi | Q9H5Q4 |
jPOSTi | Q9H5Q4 |
MassIVEi | Q9H5Q4 |
MaxQBi | Q9H5Q4 |
PaxDbi | Q9H5Q4 |
PeptideAtlasi | Q9H5Q4 |
PRIDEi | Q9H5Q4 |
ProteomicsDBi | 80926 |
Protocols and materials databases
Antibodypediai | 34721, 251 antibodies |
DNASUi | 64216 |
Genome annotation databases
Ensembli | ENST00000366514; ENSP00000355471; ENSG00000162851 |
GeneIDi | 64216 |
KEGGi | hsa:64216 |
UCSCi | uc001ibn.4, human |
Organism-specific databases
CTDi | 64216 |
DisGeNETi | 64216 |
EuPathDBi | HostDB:ENSG00000162851.7 |
GeneCardsi | TFB2M |
HGNCi | HGNC:18559, TFB2M |
HPAi | ENSG00000162851, Low tissue specificity |
MIMi | 607055, gene |
neXtProti | NX_Q9H5Q4 |
OpenTargetsi | ENSG00000162851 |
PharmGKBi | PA38348 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0820, Eukaryota |
GeneTreei | ENSGT00950000183142 |
HOGENOMi | CLU_051778_1_0_1 |
InParanoidi | Q9H5Q4 |
OMAi | GRCEMIL |
OrthoDBi | 1169941at2759 |
PhylomeDBi | Q9H5Q4 |
TreeFami | TF325100 |
Enzyme and pathway databases
PathwayCommonsi | Q9H5Q4 |
Reactomei | R-HSA-163282, Mitochondrial transcription initiation R-HSA-2151201, Transcriptional activation of mitochondrial biogenesis |
Miscellaneous databases
BioGRID-ORCSi | 64216, 367 hits in 848 CRISPR screens |
ChiTaRSi | TFB2M, human |
GeneWikii | TFB2M |
GenomeRNAii | 64216 |
Pharosi | Q9H5Q4, Tbio |
PROi | PR:Q9H5Q4 |
RNActi | Q9H5Q4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000162851, Expressed in secondary oocyte and 235 other tissues |
Genevisiblei | Q9H5Q4, HS |
Family and domain databases
InterProi | View protein in InterPro IPR001737, KsgA/Erm IPR020598, rRNA_Ade_methylase_Trfase_N IPR029063, SAM-dependent_MTases IPR016861, TFB2M |
PANTHERi | PTHR11727, PTHR11727, 1 hit PTHR11727:SF13, PTHR11727:SF13, 1 hit |
Pfami | View protein in Pfam PF00398, RrnaAD, 1 hit |
SMARTi | View protein in SMART SM00650, rADc, 1 hit |
SUPFAMi | SSF53335, SSF53335, 1 hit |
PROSITEi | View protein in PROSITE PS51689, SAM_RNA_A_N6_MT, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | TFB2M_HUMAN | |
Accessioni | Q9H5Q4Primary (citable) accession number: Q9H5Q4 Secondary accession number(s): Q9H626 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 23, 2007 |
Last sequence update: | March 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 173 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, 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 - SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations