TFB1M Gene Summary [Human]
The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).[provided by RefSeq, Aug 2010]
Details
| Type | Protein Coding |
| Official Symbol | TFB1M |
| Official Name | transcription factor B1, mitochondrial [Source:HGNC Symbol;Acc:HGNC:17037] |
| Ensembl ID | ENSG00000029639 |
| Bio databases IDs | |
| Aliases | transcription factor B1, mitochondrial, dimethyladenosine transferase 1, mitochondrial |
| Synonyms | CGI-75, mtTFB, mtTFB1, transcription factor B1, mitochondrial |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TFB1M often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- ribosomal RNA small subunit methyltransferase A
- binding protein
- rRNA (adenine-N6,N6-)-dimethyltransferase
- Ribosomal RNA adenine dimethylase
- RNA methyltransferase domain
- protein binding
- AdoMet_MTases
Pathways
Biological processes and signaling networks where the TFB1M gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- pervasive developmental disorder
- progressive hearing impairment
role in cell
- expression in
- apoptosis
- function
- biogenesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- mitochondrial matrix
- mitochondrial nucleoids
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TFB1M gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transcription initiation from mitochondrial promoter
- rRNA modification
- rRNA methylation
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrial nucleoid
Molecular Function
What the gene product does at the molecular level
- DNA binding
- RNA binding
- protein binding
- mitochondrial RNA polymerase binding promoter specificity activity
- rRNA (adenine-N6,N6-)-dimethyltransferase activity