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Aliases for TFB1M Gene

Aliases for TFB1M Gene

  • Transcription Factor B1, Mitochondrial 2 3 5
  • S-Adenosylmethionine-6-N, N-Adenosyl(RRNA) Dimethyltransferase 1 3 4
  • Dimethyladenosine Transferase 1, Mitochondrial 2 3
  • Mitochondrial 12S RRNA Dimethylase 1 3 4
  • H-MtTFB1 3 4
  • HTFB1M 3 4
  • MtTFB1 3 4
  • Homolog Of Yeast Mitochondrial Transcription Factor B 3
  • Mitochondrial Dimethyladenosine Transferase 1 3
  • Mitochondrial Transcription Factor B1 4
  • EC 2.1.1.- 4
  • EC 2.1.1 56
  • H-MtTFB 4
  • CGI-75 3
  • CGI75 3
  • MtTFB 3

External Ids for TFB1M Gene

Previous GeneCards Identifiers for TFB1M Gene

  • GC06M155054
  • GC06M155474
  • GC06M155609
  • GC06M155670
  • GC06M153141
  • GC06M155578
  • GC06M155254

Summaries for TFB1M Gene

Entrez Gene Summary for TFB1M Gene

  • 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]

GeneCards Summary for TFB1M Gene

TFB1M (Transcription Factor B1, Mitochondrial) is a Protein Coding gene. Diseases associated with TFB1M include Mitochondrial Non-Syndromic Sensorineural Deafness. Among its related pathways are Organelle biogenesis and maintenance and Gene Expression. Gene Ontology (GO) annotations related to this gene include rRNA (adenine-N6,N6-)-dimethyltransferase activity. An important paralog of this gene is DIMT1.

UniProtKB/Swiss-Prot for TFB1M Gene

  • S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity.

Gene Wiki entry for TFB1M Gene

Additional gene information for TFB1M Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFB1M Gene

Genomics for TFB1M Gene

GeneHancer (GH) Regulatory Elements for TFB1M Gene

Promoters and enhancers for TFB1M Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I155312 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 568.3 -0.5 -473 4.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 ZNF143 SP3 NFYC TFB1M SCAF8 ENSG00000235381 TIAM2 GC06M155324 GC06P154934
GH06I155327 Enhancer 1.1 Ensembl ENCODE 13.9 -14.5 -14495 3.1 FOXA2 MLX ZFP64 ARID4B ETS1 ARID2 ZNF143 ATF7 PAF1 NCOA1 TFB1M ENSG00000235381 GC06M155324 GC06P154934
GH06I155340 Enhancer 0.9 Ensembl ENCODE 11 -26.7 -26666 1.3 ELF3 GATAD2A CTCF CBFB ZNF644 RAD21 KAT8 TEAD3 NFIL3 ZNF217 TFB1M NOX3 GC06M155324 GC06P154934
GH06I155399 Enhancer 1.2 FANTOM5 dbSUPER 6.7 -85.0 -84964 0.6 FOXA2 MLX ZFP64 ARID4B DMAP1 ZNF48 ETS1 SLC30A9 ATF7 SP5 GC06P155399 NOX3 TFB1M
GH06I155272 Enhancer 1 Ensembl ENCODE dbSUPER 7.9 +40.9 40924 2.9 JUN BACH1 CBFA2T3 ZNF316 ZNF766 JUND IKZF1 KDM1A NFE2 RCOR1 ENSG00000235381 TIAM2 ENSG00000238963 TFB1M CLDN20 GC06P154934
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TFB1M on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TFB1M gene promoter:

Genomic Locations for TFB1M Gene

Genomic Locations for TFB1M Gene
chr6:155,247,238-155,314,497
(GRCh38/hg38)
Size:
67,260 bases
Orientation:
Minus strand
chr6:155,577,264-155,635,627
(GRCh37/hg19)

Genomic View for TFB1M Gene

Genes around TFB1M on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFB1M Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFB1M Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFB1M Gene

Proteins for TFB1M Gene

  • Protein details for TFB1M Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WVM0-TFB1M_HUMAN
    Recommended name:
    Dimethyladenosine transferase 1, mitochondrial
    Protein Accession:
    Q8WVM0
    Secondary Accessions:
    • Q05DR0
    • Q9Y384

    Protein attributes for TFB1M Gene

    Size:
    346 amino acids
    Molecular mass:
    39543 Da
    Quaternary structure:
    • Interacts with mitochondrial RNA polymerase POLRMT. Interacts with TFAM.
    SequenceCaution:
    • Sequence=AAH05183.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};

neXtProt entry for TFB1M Gene

Selected DME Specific Peptides for TFB1M Gene

Q8WVM0:
  • QKEVAER
  • FQFRRKYCH
  • RLPPLPTI
  • GPFVYGRT
  • QNFLLDL
  • EVGPGPGGITRSIL

Post-translational modifications for TFB1M Gene

No Post-translational modifications

Domains & Families for TFB1M Gene

Gene Families for TFB1M Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TFB1M Gene

Graphical View of Domain Structure for InterPro Entry

Q8WVM0

UniProtKB/Swiss-Prot:

TFB1M_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family. KsgA subfamily.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family. KsgA subfamily.
genes like me logo Genes that share domains with TFB1M: view

Function for TFB1M Gene

Molecular function for TFB1M Gene

UniProtKB/Swiss-Prot Function:
S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity.
UniProtKB/Swiss-Prot Induction:
By the nuclear respiratory factors NRF1 and NRF2/GABPB2 and PGC-1 coactivators.

Enzyme Numbers (IUBMB) for TFB1M Gene

Phenotypes From GWAS Catalog for TFB1M Gene

Gene Ontology (GO) - Molecular Function for TFB1M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000179 rRNA (adenine-N6,N6-)-dimethyltransferase activity IBA,EXP --
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding HDA,IDA 22658674
GO:0005515 protein binding IPI 12897151
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with TFB1M: view
genes like me logo Genes that share phenotypes with TFB1M: view

Animal Models for TFB1M Gene

MGI Knock Outs for TFB1M:

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TFB1M Gene

Localization for TFB1M Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFB1M Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFB1M gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TFB1M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0042645 mitochondrial nucleoid IDA 18063578
genes like me logo Genes that share ontologies with TFB1M: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TFB1M Gene

Pathways & Interactions for TFB1M Gene

genes like me logo Genes that share pathways with TFB1M: view

Pathways by source for TFB1M Gene

Gene Ontology (GO) - Biological Process for TFB1M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000154 rRNA modification TAS --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006364 rRNA processing IEA --
GO:0007005 mitochondrion organization TAS --
genes like me logo Genes that share ontologies with TFB1M: view

No data available for SIGNOR curated interactions for TFB1M Gene

Drugs & Compounds for TFB1M Gene

(1) Drugs for TFB1M Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for TFB1M Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0
genes like me logo Genes that share compounds with TFB1M: view

Transcripts for TFB1M Gene

Unigene Clusters for TFB1M Gene

Transcription factor B1, mitochondrial:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TFB1M Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6
SP1: - -
SP2: -
SP3: -

Relevant External Links for TFB1M Gene

GeneLoc Exon Structure for
TFB1M
ECgene alternative splicing isoforms for
TFB1M

Expression for TFB1M Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TFB1M Gene

Protein differential expression in normal tissues from HIPED for TFB1M Gene

This gene is overexpressed in Lung (34.9), Breast (15.6), and Adrenal (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TFB1M Gene



NURSA nuclear receptor signaling pathways regulating expression of TFB1M Gene:

TFB1M

SOURCE GeneReport for Unigene cluster for TFB1M Gene:

Hs.279908

mRNA Expression by UniProt/SwissProt for TFB1M Gene:

Q8WVM0-TFB1M_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for TFB1M Gene

  • Kidney(4.2)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TFB1M Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • head
  • inner ear
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TFB1M: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for TFB1M Gene

Orthologs for TFB1M Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TFB1M Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TFB1M 33 34
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia TFB1M 33 34
  • 87.95 (n)
cow
(Bos Taurus)
Mammalia TFB1M 33 34
  • 87.39 (n)
mouse
(Mus musculus)
Mammalia Tfb1m 33 16 34
  • 85.64 (n)
rat
(Rattus norvegicus)
Mammalia Tfb1m 33
  • 85.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TFB1M 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TFB1M 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves TFB1M 33 34
  • 72.56 (n)
lizard
(Anolis carolinensis)
Reptilia TFB1M 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfb1m 33
  • 70.57 (n)
Str.15471 33
African clawed frog
(Xenopus laevis)
Amphibia MGC68924 33
zebrafish
(Danio rerio)
Actinopterygii tfb1m 33 34
  • 69.07 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2306 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012129 33
  • 53.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta mtTFB1 33 34
  • 53.03 (n)
CG7319 35
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea T03F1.7 35 33
  • 50 (n)
tfbm-1 34
  • 40 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIM1 34
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToOne
Species where no ortholog for TFB1M was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TFB1M Gene

ENSEMBL:
Gene Tree for TFB1M (if available)
TreeFam:
Gene Tree for TFB1M (if available)

Paralogs for TFB1M Gene

Paralogs for TFB1M Gene

genes like me logo Genes that share paralogs with TFB1M: view

Variants for TFB1M Gene

Sequence variations from dbSNP and Humsavar for TFB1M Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000036094 -- 155,241,015(-) T/C genic_downstream_transcript_variant, intron_variant
rs1000100207 -- 155,282,787(-) G/T intron_variant
rs1000115020 -- 155,255,116(-) G/C genic_downstream_transcript_variant, intron_variant, non_coding_transcript_variant
rs1000132263 -- 155,282,358(-) T/C intron_variant
rs1000152588 -- 155,282,901(-) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TFB1M Gene

Variant ID Type Subtype PubMed ID
nsv526576 CNV loss 19592680
nsv475772 CNV novel sequence insertion 20440878
nsv1025003 CNV gain 25217958
esv3611344 CNV loss 21293372
esv1338847 CNV deletion 17803354

Variation tolerance for TFB1M Gene

Residual Variation Intolerance Score: 76.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.48; 43.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TFB1M Gene

Human Gene Mutation Database (HGMD)
TFB1M
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TFB1M

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFB1M Gene

Disorders for TFB1M Gene

MalaCards: The human disease database

(1) MalaCards diseases for TFB1M Gene - From: Orphanet

Disorder Aliases PubMed IDs
mitochondrial non-syndromic sensorineural deafness
  • isolated mitochondrial neurosensory deafness
- elite association - COSMIC cancer census association via MalaCards
Search TFB1M in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TFB1M_HUMAN
  • Note=Variations in TFB1M may influence the clinical expression of aminoglycoside-induced deafness caused by the A1555G mutation in the mitochondrial 12S rRNA.

Additional Disease Information for TFB1M

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TFB1M: view

No data available for Genatlas for TFB1M Gene

Publications for TFB1M Gene

  1. Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy. (PMID: 19096125) Alonso-Montes C … Coto E (Disease markers 2008) 3 4 22 44 58
  2. A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine. (PMID: 11809803) McCulloch V … Shadel GS (Molecular and cellular biology 2002) 2 3 4 22 58
  3. Mutational screening of the mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease. (PMID: 18980857) Sánchez-Ferrero E … Alvarez V (Parkinsonism & related disorders 2009) 3 22 44 58
  4. Control of mitochondrial transcription specificity factors (TFB1M and TFB2M) by nuclear respiratory factors (NRF-1 and NRF-2) and PGC-1 family coactivators. (PMID: 15684387) Gleyzer N … Scarpulla RC (Molecular and cellular biology 2005) 3 4 22 58
  5. Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. (PMID: 15110318) Bykhovskaya Y … Fischel-Ghodsian N (Molecular genetics and metabolism 2004) 3 4 22 58

Products for TFB1M Gene

Sources for TFB1M Gene

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