Q8WVM0 · TFB1M_HUMAN

  • Protein
    Dimethyladenosine transferase 1, mitochondrial
  • Gene
    TFB1M
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Mitochondrial methyltransferase which uses S-adenosyl methionine to dimethylate two highly conserved adjacent adenosine residues (A1583 and A1584) within the loop of helix 45 at the 3-prime end of 12S rRNA, thereby regulating the assembly or stability of the small subunit of the mitochondrial ribosome (PubMed:12496758, PubMed:25305075, PubMed:31251801).
Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity (PubMed:11809803, PubMed:12068295, PubMed:12897151).

Miscellaneous

It has been proposed that variations in TFB1M may influence the clinical expression of aminoglycoside-induced deafness caused by the A1555G mutation in the mitochondrial 12S rRNA (PubMed:15110318).
However, this was later questioned as patients with the A1555G mutation had similar 12S rRNA methylation levels to controls (PubMed:25305075).

Catalytic activity

Features

Showing features for binding site.

TypeIDPosition(s)Description
Binding site38S-adenosyl-L-methionine (UniProtKB | ChEBI)
Binding site63S-adenosyl-L-methionine (UniProtKB | ChEBI)
Binding site85S-adenosyl-L-methionine (UniProtKB | ChEBI)
Binding site86S-adenosyl-L-methionine (UniProtKB | ChEBI)
Binding site111S-adenosyl-L-methionine (UniProtKB | ChEBI)
Binding site112S-adenosyl-L-methionine (UniProtKB | ChEBI)
Binding site141S-adenosyl-L-methionine (UniProtKB | ChEBI)

GO annotations

AspectTerm
Cellular Componentmitochondrial matrix
Cellular Componentmitochondrial nucleoid
Molecular FunctionDNA binding
Molecular Functionmitochondrial transcription factor activity
Molecular FunctionRNA binding
Molecular FunctionrRNA (adenine-N6,N6-)-dimethyltransferase activity
Molecular FunctionS-adenosyl-L-methionine binding
Biological ProcessrRNA methylation
Biological ProcessrRNA modification
Biological Processtranscription initiation at mitochondrial promoter

Keywords

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Dimethyladenosine transferase 1, mitochondrial
  • EC number
  • Alternative names
    • Mitochondrial 12S rRNA dimethylase 1
    • Mitochondrial transcription factor B1 (h-mtTFB; h-mtTFB1; hTFB1M; mtTFB1)
    • S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1

Gene names

    • Name
      TFB1M
    • ORF names
      CGI-75

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q8WVM0
  • Secondary accessions
    • Q05DR0
    • Q9Y384

Proteomes

Organism-specific databases

Subcellular Location

Keywords

Disease & Variants

Features

Showing features for mutagenesis, natural variant.

TypeIDPosition(s)Description
Mutagenesis65Abolishes methyltransferase activity, DNA-binding and SAM-binding. Does not abolish transcription activator function.
Mutagenesis85Inhibits rRNA (adenine-N6,N6-)-dimethyltransferase activity.
Mutagenesis86Inhibits rRNA (adenine-N6,N6-)-dimethyltransferase activity.
Mutagenesis111Inhibits rRNA (adenine-N6,N6-)-dimethyltransferase activity.
Mutagenesis112Inhibits rRNA (adenine-N6,N6-)-dimethyltransferase activity.
Natural variantVAR_071246120in dbSNP:rs144355958
Mutagenesis141Does not affect SAM-binding, DNA-binding nor transcription activator function.
Mutagenesis183Abolishes the interaction between 12S helix 45 and TFB1M; when associated with E-256 and E-257.
Natural variantVAR_071247211in dbSNP:rs769497533
Mutagenesis220Abolishes methyltransferase activity. Does not affect SAM-binding, DNA-binding nor transcription activator function.
Natural variantVAR_071248256in dbSNP:rs73579353
Mutagenesis256Abolishes the interaction between 12S helix 45 and TFB1M; when associated with E-183 and E-257.
Mutagenesis257Abolishes the interaction between 12S helix 45 and TFB1M; when associated with E-183 and E-256.

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 416 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for transit peptide, chain.

TypeIDPosition(s)Description
Transit peptide1-27Mitochondrion
ChainPRO_000027317128-346Dimethyladenosine transferase 1, mitochondrial

Proteomic databases

PTM databases

Expression

Tissue specificity

Ubiquitously expressed.

Induction

By the nuclear respiratory factors NRF1 and NRF2/GABPB2 and PGC-1 coactivators.

Gene expression databases

Organism-specific databases

Interaction

Subunit

Interacts with mitochondrial RNA polymerase POLRMT. Interacts with TFAM (PubMed:12068295, PubMed:12897151).
Bound to the maturing mtSSU until the late stages of assembly (By similarity).

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntact
BINARY Q8WVM0TFAM Q000592EBI-2615570, EBI-1049924

Protein-protein interaction databases

Miscellaneous

Family & Domains

Sequence similarities

Keywords

Phylogenomic databases

Family and domain databases

Sequence

  • Sequence status
    Complete
  • Sequence processing
    The displayed sequence is further processed into a mature form.
  • Length
    346
  • Mass (Da)
    39,543
  • Last updated
    2002-03-01 v1
  • Checksum
    4C34F4FD72B01286
MAASGKLSTCRLPPLPTIREIIKLLRLQAAKQLSQNFLLDLRLTDKIVRKAGNLTNAYVYEVGPGPGGITRSILNADVAELLVVEKDTRFIPGLQMLSDAAPGKLRIVHGDVLTFKVEKAFSESLKRPWEDDPPNVHIIGNLPFSVSTPLIIKWLENISCRDGPFVYGRTQMTLTFQKEVAERLAANTGSKQRSRLSVMAQYLCNVRHIFTIPGQAFVPKPEVDVGVVHFTPLIQPKIEQPFKLVEKVVQNVFQFRRKYCHRGLRMLFPEAQRLESTGRLLELADIDPTLRPRQLSISHFKSLCDVYRKMCDEDPQLFAYNFREELKRRKSKNEEKEEDDAENYRL

Sequence caution

The sequence AAH05183.1 differs from that shown. Reason: Miscellaneous discrepancy Contaminating sequence. Potential poly-A sequence.

Features

Showing features for sequence conflict.

TypeIDPosition(s)Description
Sequence conflict31-32in Ref. 1; AAD34070

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AF151833
EMBL· GenBank· DDBJ
AAD34070.1
EMBL· GenBank· DDBJ
mRNA
AL139101
EMBL· GenBank· DDBJ
-Genomic DNA No translation available.
BC005183
EMBL· GenBank· DDBJ
AAH05183.1
EMBL· GenBank· DDBJ
mRNA Sequence problems.
BC017788
EMBL· GenBank· DDBJ
AAH17788.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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