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Protein

Dimethyladenosine transferase 1, mitochondrial

Gene

TFB1M

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.3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei36S-adenosyl-L-methionine; via carbonyl oxygenBy similarity1
Binding sitei38S-adenosyl-L-methionine; via amide nitrogenBy similarity1
Binding sitei63S-adenosyl-L-methionine; via carbonyl oxygenBy similarity1
Binding sitei85S-adenosyl-L-methionineBy similarity1
Binding sitei111S-adenosyl-L-methionineBy similarity1
Binding sitei141S-adenosyl-L-methionineBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

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

Enzyme and pathway databases

ReactomeiR-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-6793080 rRNA modification in the mitochondrion

Names & Taxonomyi

Protein namesi
Recommended name:
Dimethyladenosine transferase 1, mitochondrial (EC:2.1.1.-)
Alternative name(s):
Mitochondrial 12S rRNA dimethylase 1
Mitochondrial transcription factor B1
Short name:
h-mtTFB
Short name:
h-mtTFB1
Short name:
hTFB1M
Short name:
mtTFB1
S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1
Gene namesi
Name:TFB1M
ORF Names:CGI-75
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000029639.10
HGNCiHGNC:17037 TFB1M
MIMi607033 gene
neXtProtiNX_Q8WVM0

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

Involvement in diseasei

Variations in TFB1M may influence the clinical expression of aminoglycoside-induced deafness caused by the A1555G mutation in the mitochondrial 12S rRNA.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi65G → A: Abolishes methyltransferase activity, DNA-binding and SAM-binding. Does not abolish transcription activator function. 2 Publications1
Mutagenesisi141N → A: Does not affect SAM-binding, DNA-binding nor transcription activator function. 1 Publication1
Mutagenesisi220K → A: Abolishes methyltransferase activity. Does not affect SAM-binding, DNA-binding nor transcription activator function. 2 Publications1

Organism-specific databases

DisGeNETi51106
MalaCardsiTFB1M
OpenTargetsiENSG00000029639
Orphaneti90641 Mitochondrial non-syndromic sensorineural deafness
PharmGKBiPA38198

Polymorphism and mutation databases

BioMutaiTFB1M
DMDMi74751555

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 27MitochondrionSequence analysisAdd BLAST27
ChainiPRO_000027317128 – 346Dimethyladenosine transferase 1, mitochondrialAdd BLAST319

Proteomic databases

EPDiQ8WVM0
MaxQBiQ8WVM0
PaxDbiQ8WVM0
PeptideAtlasiQ8WVM0
PRIDEiQ8WVM0
ProteomicsDBi74803

PTM databases

iPTMnetiQ8WVM0
PhosphoSitePlusiQ8WVM0

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

BgeeiENSG00000029639
CleanExiHS_TFB1M
ExpressionAtlasiQ8WVM0 baseline and differential
GenevisibleiQ8WVM0 HS

Organism-specific databases

HPAiHPA029428

Interactioni

Subunit structurei

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

Binary interactionsi

WithEntry#Exp.IntActNotes
TFAMQ000592EBI-2615570,EBI-1049924

Protein-protein interaction databases

BioGridi119295, 20 interactors
IntActiQ8WVM0, 11 interactors
MINTiQ8WVM0
STRINGi9606.ENSP00000356134

Structurei

3D structure databases

ProteinModelPortaliQ8WVM0
SMRiQ8WVM0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni35 – 38S-adenosyl-L-methionine bindingBy similarity4

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0821 Eukaryota
COG0030 LUCA
GeneTreeiENSGT00530000063389
HOGENOMiHOG000227961
HOVERGENiHBG082484
InParanoidiQ8WVM0
KOiK15266
OMAiSVMSQIW
OrthoDBiEOG091G0ALA
PhylomeDBiQ8WVM0
TreeFamiTF300798

Family and domain databases

Gene3Di1.10.8.100, 1 hit
HAMAPiMF_00607 16SrRNA_methyltr_A, 1 hit
InterProiView protein in InterPro
IPR001737 KsgA/Erm
IPR023165 rRNA_Ade_diMease-like
IPR020596 rRNA_Ade_Mease_Trfase_CS
IPR020598 rRNA_Ade_methylase_Trfase_N
IPR011530 rRNA_adenine_dimethylase
IPR029063 SAM-dependent_MTases
PANTHERiPTHR11727 PTHR11727, 1 hit
PfamiView protein in Pfam
PF00398 RrnaAD, 1 hit
SMARTiView protein in SMART
SM00650 rADc, 1 hit
SUPFAMiSSF53335 SSF53335, 1 hit
TIGRFAMsiTIGR00755 ksgA, 1 hit
PROSITEiView protein in PROSITE
PS01131 RRNA_A_DIMETH, 1 hit
PS51689 SAM_RNA_A_N6_MT, 1 hit

Sequencei

Sequence statusi: Complete.

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

Q8WVM0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAASGKLSTC RLPPLPTIRE IIKLLRLQAA KQLSQNFLLD LRLTDKIVRK
60 70 80 90 100
AGNLTNAYVY EVGPGPGGIT RSILNADVAE LLVVEKDTRF IPGLQMLSDA
110 120 130 140 150
APGKLRIVHG DVLTFKVEKA FSESLKRPWE DDPPNVHIIG NLPFSVSTPL
160 170 180 190 200
IIKWLENISC RDGPFVYGRT QMTLTFQKEV AERLAANTGS KQRSRLSVMA
210 220 230 240 250
QYLCNVRHIF TIPGQAFVPK PEVDVGVVHF TPLIQPKIEQ PFKLVEKVVQ
260 270 280 290 300
NVFQFRRKYC HRGLRMLFPE AQRLESTGRL LELADIDPTL RPRQLSISHF
310 320 330 340
KSLCDVYRKM CDEDPQLFAY NFREELKRRK SKNEEKEEDD AENYRL
Length:346
Mass (Da):39,543
Last modified:March 1, 2002 - v1
Checksum:i4C34F4FD72B01286
GO

Sequence cautioni

The sequence AAH05183 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti31 – 32KQ → NE in AAD34070 (PubMed:10810093).Curated2

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_071246120A → P1 PublicationCorresponds to variant dbSNP:rs144355958Ensembl.1
Natural variantiVAR_071247211T → A1 PublicationCorresponds to variant dbSNP:rs769497533Ensembl.1
Natural variantiVAR_071248256R → Q1 PublicationCorresponds to variant dbSNP:rs73579353Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF151833 mRNA Translation: AAD34070.1
AL139101 Genomic DNA No translation available.
BC005183 mRNA Translation: AAH05183.1 Sequence problems.
BC017788 mRNA Translation: AAH17788.1
CCDSiCCDS5248.1
RefSeqiNP_057104.2, NM_016020.3
UniGeneiHs.279908
Hs.655297

Genome annotation databases

EnsembliENST00000367166; ENSP00000356134; ENSG00000029639
GeneIDi51106
KEGGihsa:51106
UCSCiuc003qqj.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTFB1M_HUMAN
AccessioniPrimary (citable) accession number: Q8WVM0
Secondary accession number(s): Q05DR0, Q9Y384
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: March 1, 2002
Last modified: June 20, 2018
This is version 144 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 6
    Human chromosome 6: 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

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