Tfb1m transcription factor B1, mitochondrial [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tfb1mprovided by MGI
Official Full Name: transcription factor B1, mitochondrialprovided by MGI
Primary source: MGI:MGI:2146851
See related: Ensembl:ENSMUSG00000036983 AllianceGenome:MGI:2146851
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mtTFB1
Summary: Enables S-adenosyl-L-methionine binding activity and rRNA (adenine-N6,N6-)-dimethyltransferase activity. Involved in rRNA methylation. Located in mitochondrion. Is expressed in cerebral cortex ventricular layer; early conceptus; and secondary oocyte. Orthologous to human TFB1M (transcription factor B1, mitochondrial). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in testis adult (RPKM 12.7), liver E14 (RPKM 5.1) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 A1; 17 2.01 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (3569119..3608064, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (3519250..3557796, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.
Title: Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.
Metazoans have two TFBM genes, suggesting that a duplication of the gene has permitted a more flexible regulation of mtDNA.
Title: Characterization of the mouse genes for mitochondrial transcription factors B1 and B2.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Tfb1m (e-PCR), detects polymorphism
- UniSTS:496731

AI429207 (e-PCR)
- UniSTS:160612

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables S-adenosyl-L-methionine binding	IDA Inferred from Direct Assay more info	PubMed
enables S-adenosyl-L-methionine binding	ISO Inferred from Sequence Orthology more info
enables mitochondrial transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables rRNA (adenine-N6,N6-)-dimethyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables rRNA (adenine-N6,N6-)-dimethyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables rRNA (adenine-N6,N6-)-dimethyltransferase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in rRNA methylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in rRNA methylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA methylation	ISO Inferred from Sequence Orthology more info
involved_in rRNA methylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in transcription initiation at mitochondrial promoter	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial nucleoid	IEA Inferred from Electronic Annotation more info
located_in mitochondrial nucleoid	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed

General protein information

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Preferred Names: dimethyladenosine transferase 1, mitochondrial

Names: S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 1; mitochondrial 12S rRNA dimethylase 1

NP_666186.1

EC 2.1.1.-

XP_036016402.1

EC 2.1.1.-

XP_036016403.1

EC 2.1.1.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_146074.3 → NP_666186.1 dimethyladenosine transferase 1, mitochondrial

See identical proteins and their annotated locations for NP_666186.1

Status: VALIDATED

Source sequence(s)

AC098838, AC122350

Consensus CDS

CCDS28363.1

UniProtKB/Swiss-Prot

Q8JZM0

Related

ENSMUSP00000035291.7, ENSMUST00000041003.8

Conserved Domains (1) summary

PRK00274
Location:15 → 310

ksgA; 16S ribosomal RNA methyltransferase KsgA/Dim1 family protein; Reviewed

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

3569119..3608064 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036160510.1 → XP_036016403.1 dimethyladenosine transferase 1, mitochondrial isoform X2

Conserved Domains (1) summary

cl17173
Location:6 → 215

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
XM_036160509.1 → XP_036016402.1 dimethyladenosine transferase 1, mitochondrial isoform X1

Conserved Domains (1) summary

cl17173
Location:15 → 222

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...