Basic Information

Symbol
TFB1M
RNA class
mRNA
Alias
Transcription Factor B1, Mitochondrial Dimethyladenosine Transferase 1, Mitochondrial CGI-75 MtTFB S-Adenosylmethionine-6-N', N'-Adenosyl(RRNA) Dimethyltransferase 1 Mitochondrial 12S RRNA Dimethylase 1 H-MtTFB1 MtTFB1 HTFB1M Homolog Of Yeast Mitochondrial Transcription Factor B Mitochondrial Dimethyladenosine Transferase 1 Mitochondrial Transcription Factor B1 EC 2.1.1.- EC 2.1.1 H-MtTFB CGI75
Location (GRCh38)
6:155256134-155314493
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_016020.4
Sequence length
2799.0 nt
GC content
0.4248

Transcripts

ID Sequence Length GC content
NM_001350501.2 NCBI
GGAGCGGCGGUGAAGGUCCUGGGUGAGGUAGGGUUGGAUGGUGCUUGCC… 2625 nt 0.4213
NM_001350502.2 NCBI
GGAGCGGCGGUGAAGGUCCUGGGUGAGGUAGGGUUGGAUGGUGCUUGCC… 2978 nt 0.4392
NM_016020.4 NCBI
GGAGCGGCGGUGAAGGUCCUGGGUGAGGUAGGGUUGGAUGGUGCUUGCC… 2799 nt 0.4248
Summary

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]

Forensic Context

A study in mice demonstrated that acute alcohol exposure during neurulation induces rapid transcriptomic changes in the rostroventral neural tube, with the TFB1M being down-regulated (-0.24 Log2FC) 4 hours post-exposure alongside other methyltransferase activity genes, indicating a disruption in RNA methylation and ribosome biogenesis pathways [Boschen et al. DOI:10.1016/J.Alcohol.2022.09.001].