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Protein

Dimethyladenosine transferase 2, mitochondrial

Gene

TFB2M

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

Functioni

S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity. Compared to TFB1M, it activates transcription of mitochondrial DNA more efficiently, while it has less methyltransferase activity.4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei75S-adenosyl-L-methionine; via amide nitrogenPROSITE-ProRule annotation1
Binding sitei124S-adenosyl-L-methioninePROSITE-ProRule annotation1
Binding sitei150S-adenosyl-L-methioninePROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

  • mitochondrial transcription Source: UniProtKB
  • mitochondrion organization Source: Reactome
  • positive regulation of transcription, DNA-templated Source: UniProtKB
  • transcription initiation from mitochondrial promoter Source: UniProtKB

Keywordsi

Molecular functionMethyltransferase, RNA-binding, Transferase
Biological processrRNA processing, Transcription, Transcription regulation
LigandS-adenosyl-L-methionine

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Dimethyladenosine transferase 2, mitochondrial (EC:2.1.1.-)
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
Name:TFB2M
Synonyms:NS5ATP5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000162851.7
HGNCiHGNC:18559 TFB2M
MIMi607055 gene
neXtProtiNX_Q9H5Q4

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

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi105G → A: Abolishes methyltransferase activity. 1 Publication1

Organism-specific databases

DisGeNETi64216
OpenTargetsiENSG00000162851
PharmGKBiPA38348

Polymorphism and mutation databases

BioMutaiTFB2M
DMDMi74752681

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 19MitochondrionSequence analysisAdd BLAST19
ChainiPRO_000027317920 – 396Dimethyladenosine transferase 2, mitochondrialAdd BLAST377

Proteomic databases

EPDiQ9H5Q4
MaxQBiQ9H5Q4
PaxDbiQ9H5Q4
PeptideAtlasiQ9H5Q4
PRIDEiQ9H5Q4

PTM databases

iPTMnetiQ9H5Q4
PhosphoSitePlusiQ9H5Q4
SwissPalmiQ9H5Q4

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

BgeeiENSG00000162851
CleanExiHS_TFB2M
GenevisibleiQ9H5Q4 HS

Organism-specific databases

HPAiHPA028482
HPA030265
HPA061095

Interactioni

Subunit structurei

Interacts with mitochondrial RNA polymerase POLRMT. Interacts with TFAM.2 Publications

Protein-protein interaction databases

BioGridi122106, 27 interactors
DIPiDIP-50540N
IntActiQ9H5Q4, 14 interactors
STRINGi9606.ENSP00000355471

Structurei

Secondary structure

1396
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi78 – 89Combined sources12
Beta strandi99 – 102Combined sources4
Helixi108 – 115Combined sources8
Beta strandi120 – 125Combined sources6
Helixi127 – 129Combined sources3
Helixi130 – 139Combined sources10
Beta strandi140 – 142Combined sources3
Beta strandi144 – 148Combined sources5
Helixi151 – 153Combined sources3
Beta strandi157 – 159Combined sources3
Beta strandi164 – 166Combined sources3
Helixi169 – 176Combined sources8
Beta strandi190 – 194Combined sources5
Helixi200 – 213Combined sources14
Helixi216 – 220Combined sources5
Beta strandi299 – 304Combined sources6
Helixi305 – 311Combined sources7
Helixi317 – 319Combined sources3
Helixi323 – 329Combined sources7
Beta strandi332 – 336Combined sources5
Beta strandi350 – 352Combined sources3
Helixi370 – 379Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6EROX-ray1.75A/B63-267[»]
A/B295-396[»]
6ERPX-ray4.50F/J21-396[»]
6ERQX-ray4.50F/J22-396[»]
ProteinModelPortaliQ9H5Q4
SMRiQ9H5Q4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

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 peptide

Phylogenomic databases

eggNOGiKOG0820 Eukaryota
COG0030 LUCA
GeneTreeiENSGT00510000048533
HOGENOMiHOG000060174
HOVERGENiHBG094037
InParanoidiQ9H5Q4
KOiK17653
OMAiKWVPGCG
OrthoDBiEOG091G0DOP
PhylomeDBiQ9H5Q4
TreeFamiTF325100

Family and domain databases

InterProiView protein in InterPro
IPR001737 KsgA/Erm
IPR020598 rRNA_Ade_methylase_Trfase_N
IPR029063 SAM-dependent_MTases
IPR016861 TFB2M
PANTHERiPTHR11727 PTHR11727, 1 hit
PTHR11727:SF13 PTHR11727:SF13, 1 hit
PfamiView protein in Pfam
PF00398 RrnaAD, 1 hit
SMARTiView protein in SMART
SM00650 rADc, 1 hit
SUPFAMiSSF53335 SSF53335, 1 hit
PROSITEiView protein in PROSITE
PS51689 SAM_RNA_A_N6_MT, 1 hit

Sequencei

Sequence statusi: Complete.

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

Q9H5Q4-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:396
Mass (Da):45,349
Last modified:March 1, 2001 - v1
Checksum:iC13DC398974BB88F
GO

Sequence cautioni

The sequence BAB15441 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti200 – 201EK → GR in BAB15441 (PubMed:14702039).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07124948S → F1 PublicationCorresponds to variant dbSNP:rs148620105Ensembl.1
Natural variantiVAR_07125064A → T2 PublicationsCorresponds to variant dbSNP:rs143880306Ensembl.1
Natural variantiVAR_030097156P → L. Corresponds to variant dbSNP:rs11585481Ensembl.1
Natural variantiVAR_030098264H → 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
CCDSiCCDS1627.1
RefSeqiNP_071761.1, NM_022366.2
UniGeneiHs.7395

Genome annotation databases

EnsembliENST00000366514; ENSP00000355471; ENSG00000162851
GeneIDi64216
KEGGihsa:64216
UCSCiuc001ibn.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTFB2M_HUMAN
AccessioniPrimary (citable) accession number: Q9H5Q4
Secondary accession number(s): Q9H626
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: March 1, 2001
Last modified: May 23, 2018
This is version 153 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, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: 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

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