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Protein

Dimethyladenosine transferase 1, mitochondrial

Gene

TFB1M

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.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

HGNCiHGNC:17037. TFB1M.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial matrix Source: Reactome
  • mitochondrial nucleoid Source: BHF-UCL

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.

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. 16 interactors.
IntActiQ8WVM0. 11 interactors.
MINTiMINT-8052614.
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.
OMAiFQFRRKH.
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

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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: May 10, 2017
This is version 139 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