TFB1M transcription factor B1, mitochondrial [Homo sapiens (human)] - Gene

Summary

Official Symbol: TFB1Mprovided by HGNC
Official Full Name: transcription factor B1, mitochondrialprovided by HGNC
Primary source: HGNC:HGNC:17037
See related: Ensembl:ENSG00000029639 MIM:607033; AllianceGenome:HGNC:17037
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CGI75; mtTFB; CGI-75; mtTFB1
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]
Expression: Ubiquitous expression in testis (RPKM 2.2), adrenal (RPKM 1.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q25.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (155229871..155314484, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (156431886..156516508, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (155551005..155635618, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The suppression of transcription factor B1, mitochondrial protein (hsTFB1M) protein level or the overexpression of inactive hsTFB1M mutants resulted in decreased ATP production.
Title: Structural insights into dimethylation of 12S rRNA by TFB1M: indispensable role in translation of mitochondrial genes and mitochondrial function.
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.
Deficiency in TFB1M and impaired mitochondrial function contribute to the pathogenesis of type 2 diabetes.
Title: A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes.
The mRNA levels of TFB1M and TFB2M are influenced by endurance training
Title: Training response of mitochondrial transcription factors in human skeletal muscle.
This study suggested that DNA variants in TFB1M did not contribute to the risk for parkinson disease.
Title: Mutational screening of the mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease.
rRNA methyltransferase activity is necessary for induction of mitochondrial biogenesis by TFB1M, but not TFB2M.
Title: Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness.
determined the variation in the TFAM, TFB1M, and TFB2M genes in cardiac hypertrophy
Title: Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop
Title: Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop.
TFB1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity
Title: Human mitochondrial transcription factor B1 interacts with the C-terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A004I02 (e-PCR)
- UniSTS:15915

RH15868 (e-PCR)
- UniSTS:7806

RH1528 (e-PCR)
- UniSTS:60803

RH92066 (e-PCR)
- UniSTS:91559

RH65775 (e-PCR)
- UniSTS:9404

G31560 (e-PCR)
- UniSTS:26331

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA binding	HDA more info	PubMed
enables S-adenosyl-L-methionine binding	IDA Inferred from Direct Assay more info	PubMed
enables mitochondrial transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables rRNA (adenine-N6,N6-)-dimethyltransferase activity	EXP Inferred from Experiment more info	PubMed
enables rRNA (adenine-N6,N6-)-dimethyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables rRNA (adenine-N6,N6-)-dimethyltransferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in rRNA methylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in rRNA methylation	IDA Inferred from Direct Assay more info	PubMed
involved_in rRNA modification	TAS Traceable Author Statement 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 matrix	TAS Traceable Author Statement more info
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP 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; h-mtTFB1; hTFB1M; homolog of yeast mitochondrial transcription factor B; mitochondrial 12S rRNA dimethylase 1; mitochondrial dimethyladenosine transferase 1

NP_001337430.1

EC 2.1.1.-

NP_001337431.1

EC 2.1.1.-

NP_057104.2

EC 2.1.1.-

XP_011534173.1

EC 2.1.1.-

XP_011534174.1

EC 2.1.1.-

XP_011534175.1

EC 2.1.1.-

XP_047274808.1

EC 2.1.1.-

XP_047274809.1

EC 2.1.1.-

XP_054211532.1

EC 2.1.1.-

XP_054211533.1

EC 2.1.1.-

XP_054211534.1

EC 2.1.1.-

XP_054211535.1

EC 2.1.1.-

XP_054211536.1

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.

Genomic

NG_027528.2 RefSeqGene

Range

5014..63364

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001350501.2 → NP_001337430.1 dimethyladenosine transferase 1, mitochondrial isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 3' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AL139101

UniProtKB/TrEMBL

A8K0B9

Conserved Domains (1) summary

PRK00274
Location:15 → 258

ksgA; 16S rRNA (adenine(1518)-N(6)/adenine(1519)-N(6))-dimethyltransferase RsmA
NM_001350502.2 → NP_001337431.1 dimethyladenosine transferase 1, mitochondrial isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice junction in the 5' end compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AL139101

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). ...
NM_016020.4 → NP_057104.2 dimethyladenosine transferase 1, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_057104.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AL139101, BC017788

Consensus CDS

CCDS5248.1

UniProtKB/Swiss-Prot

Q05DR0, Q8WVM0, Q9Y384

UniProtKB/TrEMBL

A8K0B9, E5KTM5

Related

ENSP00000356134.4, ENST00000367166.5

Conserved Domains (1) summary

PRK00274
Location:15 → 310

ksgA; 16S rRNA (adenine(1518)-N(6)/adenine(1519)-N(6))-dimethyltransferase RsmA

RNA

NR_146725.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AL139101, AL355343, AL596202

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

155229871..155314484 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047418852.1 → XP_047274808.1 dimethyladenosine transferase 1, mitochondrial isoform X1
XM_011535871.3 → XP_011534173.1 dimethyladenosine transferase 1, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_011534173.1

Conserved Domains (1) summary

cl17173
Location:15 → 223

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_011535872.3 → XP_011534174.1 dimethyladenosine transferase 1, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_011534174.1

Conserved Domains (1) summary

cl17173
Location:15 → 223

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_011535873.3 → XP_011534175.1 dimethyladenosine transferase 1, mitochondrial isoform X2

See identical proteins and their annotated locations for XP_011534175.1

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_047418853.1 → XP_047274809.1 dimethyladenosine transferase 1, mitochondrial isoform X3

RNA

XR_007059269.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

156431886..156516508 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054355559.1 → XP_054211534.1 dimethyladenosine transferase 1, mitochondrial isoform X1
XM_054355558.1 → XP_054211533.1 dimethyladenosine transferase 1, mitochondrial isoform X1
XM_054355557.1 → XP_054211532.1 dimethyladenosine transferase 1, mitochondrial isoform X1
XM_054355560.1 → XP_054211535.1 dimethyladenosine transferase 1, mitochondrial isoform X2
XM_054355561.1 → XP_054211536.1 dimethyladenosine transferase 1, mitochondrial isoform X3