Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Dimethyladenosine transferase 2, mitochondrial

Gene

TFB2M

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

  • RNA binding Source: UniProtKB
  • rRNA (adenine-N6,N6-)-dimethyltransferase activity Source: GO_Central
  • transcription cofactor activity Source: UniProtKB

GO - Biological processi

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

HGNCiHGNC:18559. TFB2M.

Subcellular locationi

GO - Cellular componenti

  • cell junction Source: HPA
  • mitochondrial matrix Source: UniProtKB
  • mitochondrial nucleoid Source: BHF-UCL
  • mitochondrion Source: HPA

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. 24 interactors.
DIPiDIP-50540N.
IntActiQ9H5Q4. 13 interactors.
STRINGi9606.ENSP00000355471.

Structurei

3D structure databases

ProteinModelPortaliQ9H5Q4.
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:SF21. PTHR11727:SF21. 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: August 30, 2017
This is version 146 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

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. SIMILARITY comments
    Index of protein domains and families