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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 61
  • 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 Mitochondrial Gene Expression and rRNA processing in the nucleus and cytosol. GO annotations related to this gene include poly(A) RNA binding and 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

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

Genomics for TFB1M Gene

Regulatory Elements for TFB1M Gene

Enhancers for TFB1M Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G155312 1.4 ENCODE dbSUPER 18.3 -0.5 -474 4.1 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC ENSG00000235381 TFB1M SCAF8 TIAM2 GC06M155324
GH06G155327 1.3 Ensembl ENCODE 13.9 -14.5 -14496 3.1 PKNOX1 FOXA2 ATF1 MLX ZFP64 ARID4B CBX5 ZNF143 PAF1 ZHX2 TFB1M ENSG00000235381 GC06M155324
GH06G155340 0.9 Ensembl ENCODE 11 -26.7 -26667 1.3 ELF3 GATAD2A CTCF CBFB ZNF644 RAD21 TEAD3 KAT8 ARID3A SMC3 TFB1M NOX3 GC06M155324
GH06G155272 1.2 Ensembl ENCODE dbSUPER 7.9 +40.9 40924 2.9 CTCF JUN ZNF766 JUND ZNF316 SMARCA4 GATA2 IKZF1 KDM1A NFE2 ENSG00000235381 TIAM2 ENSG00000238963 TFB1M CLDN20
GH06G155399 1.3 FANTOM5 dbSUPER 6.7 -85.0 -84965 0.6 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 SLC30A9 SP5 ZHX2 NOX3 TFB1M GC06P155399
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TFB1M on UCSC Golden Path with GeneCards custom track

Promoters for TFB1M Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000205677 -3 2201 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC

Genomic Location for TFB1M Gene

Chromosome:
6
Start:
155,247,238 bp from pter
End:
155,314,497 bp from pter
Size:
67,260 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for TFB1M Gene

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

Gene Ontology (GO) - Molecular Function for TFB1M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000179 rRNA (adenine-N6,N6-)-dimethyltransferase activity EXP,IBA --
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding 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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0

(1) Additional Compounds for TFB1M Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Organs:
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

Primer Products

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 34 35
  • 99.52 (n)
dog
(Canis familiaris)
Mammalia TFB1M 34 35
  • 87.95 (n)
cow
(Bos Taurus)
Mammalia TFB1M 34 35
  • 87.39 (n)
mouse
(Mus musculus)
Mammalia Tfb1m 34 16 35
  • 85.64 (n)
rat
(Rattus norvegicus)
Mammalia Tfb1m 34
  • 85.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TFB1M 35
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TFB1M 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves TFB1M 34 35
  • 72.56 (n)
lizard
(Anolis carolinensis)
Reptilia TFB1M 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfb1m 34
  • 70.57 (n)
Str.15471 34
African clawed frog
(Xenopus laevis)
Amphibia MGC68924 34
zebrafish
(Danio rerio)
Actinopterygii tfb1m 34 35
  • 69.07 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2306 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012129 34
  • 53.04 (n)
fruit fly
(Drosophila melanogaster)
Insecta mtTFB1 34 35
  • 53.03 (n)
CG7319 36
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea T03F1.7 36 34
  • 50 (n)
tfbm-1 35
  • 40 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIM1 35
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 Sequence Context AA Info Type
rs1000036094 -- 155,241,015(+) TTTAG(C/T)ATAAG intron-variant
rs1000100207 -- 155,282,787(+) CAGTG(G/T)TGCCA intron-variant
rs1000115020 -- 155,255,116(+) AAACA(C/G)GCCTT intron-variant, nc-transcript-variant
rs1000132263 -- 155,282,358(+) AAGCT(C/T)GATTG intron-variant
rs1000152588 -- 155,282,901(+) TTTTT(C/G)TATTT intron-variant

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

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

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)

Relevant External Links 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 and GeneCards

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.

Relevant External Links for TFB1M

Genetic Association Database (GAD)
TFB1M
Human Genome Epidemiology (HuGE) Navigator
TFB1M
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TFB1M
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. (Dis. Markers 2008) 3 4 22 46 64
  2. A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine. (PMID: 11809803) McCulloch V. … Shadel G.S. (Mol. Cell. Biol. 2002) 2 3 4 22 64
  3. Mutational screening of the mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease. (PMID: 18980857) SA!nchez-Ferrero E. … Alvarez V. (Parkinsonism Relat. Disord. 2009) 3 22 46 64
  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 R.C. (Mol. Cell. Biol. 2005) 3 4 22 64
  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. (Mol. Genet. Metab. 2004) 3 4 22 64

Products for TFB1M Gene

Sources for TFB1M Gene

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