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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TFB1M Gene

protein-coding   GIFtS: 56
GCID: GC06M155578

transcription factor B1, mitochondrial
 Explore 7 diseases affiliated with
TFB1M via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TFB1M    

Aliases
for TFB1M gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transcription Factor B1, Mitochondrial1 2     CGI-751
MtTFB1     Dimethyladenosine Transferase 1, Mitochondrial2
Mitochondrial 12S RRNA Dimethylase 12 3     Homolog Of Yeast Mitochondrial Transcription Factor B2
H-MtTFB11     Mitochondrial Dimethyladenosine Transferase 12
HTFB1M1     EC 2.1.1.-3
MtTFB11     H-MtTFB1
S-Adenosylmethionine-6-N', N'-Adenosyl(RRNA) Dimethyltransferase 12 3     Mitochondrial Transcription Factor B13
CGI752 5     EC 2.1.18

External Ids:    HGNC: 170371   Entrez Gene: 511062   Ensembl: ENSG000000296397   OMIM: 6070335   UniProtKB: Q8WVM03   

Export aliases for TFB1M gene to outside databases

Previous GC identifers: GC06M155054 GC06M155474 GC06M155609 GC06M155670 GC06M153141


Summaries
for TFB1M gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TFB1M:
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)

UniProtKB/Swiss-Prot: TFB1M_HUMAN, Q8WVM0
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

Gene Wiki entry for TFB1M


Genomic Views
for TFB1M gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_025741.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TFB1M gene promoter:
         C/EBPbeta   POU6F1 (c2)   Meis-1b   HNF-1A   Evi-1   MEF-2A   SRY   HNF-1   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TFB1M promoter sequence
   Search SABiosciences Chromatin IP Primers for TFB1M

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TFB1M


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q25.1-q25.3   Ensembl cytogenetic band:  6q25.3   HGNC cytogenetic band: 6q25.1-q25.3

TFB1M Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TFB1M gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M155578:  view genomic region     (about GC identifiers)

Start:
 155,578,643 bp from pter      End:
 155,635,627 bp from pter
Size:
 56,985 bases      Orientation:
 minus strand

Proteins
for TFB1M gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: TFB1M_HUMAN, Q8WVM0 (See protein sequence)
Recommended Name: Dimethyladenosine transferase 1, mitochondrial precursor  
Size: 346 amino acids; 39543 Da
Subunit: Interacts with mitochondrial RNA polymerase POLRMT. Interacts with TFAM
Subcellular location: Mitochondrion
Sequence caution: Sequence=AAH05183.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A
sequence;
Secondary accessions: Q05DR0 Q9Y384

Explore the universe of human proteins at neXtProt for TFB1M: NX_Q8WVM0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WVM0

    • 4/6 DME Specific Peptides for TFB1M (Q8WVM0) (see all 6)
     QNFLLDL  QKEVAER  RLPPLPTI  GPFVYGRT 

    TFB1M Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_057104.2  
    ENSEMBL proteins: 
     ENSP00000356134  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: TFB1M
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    Novus Biologicals TFB1M Proteins
    Novus Biologicals TFB1M Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TFB1M

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0042645mitochondrial nucleoid IDA18063578


    TFB1M for ontologies           About GeneDecksing



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    Uscn Antibodies for TFB1M
    ThermoFisher Antibodies for TFB1M

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    Uscn ELISAs and CLIAs for TFB1M

    Protein Domains /
    Families
    for TFB1M gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TFB1M for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR011530 rRNA_adenine_dimethylase
     IPR023165 rRNA_Ade_diMease-like
     IPR020596 rRNA_Ade_Mease_Trfase_CS
     IPR001737 rRNA_Ade_methylase_transferase
     IPR020598 rRNA_Ade_methylase_Trfase_N

    Graphical View of Domain Structure for InterPro Entry Q8WVM0

    ProtoNet protein and cluster: Q8WVM0

    1 Blocks protein family: IPB001737 Ribosomal RNA adenine dimethylase

    UniProtKB/Swiss-Prot: TFB1M_HUMAN, Q8WVM0
    Similarity: Belongs to the methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family. KsgA subfamily


    Function
    for TFB1M gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: TFB1M_HUMAN, Q8WVM0
    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
    Induction: By the nuclear respiratory factors NRF1 and NRF2/GABPB2 and PGC-1 coactivators

    Enzyme Numbers (IUBMB): EC 2.1.1.-1 EC 2.1.12

    miRNA
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    hsa-miR-579 hsa-miR-3607-3p hsa-miR-330-5p hsa-miR-1260b hsa-miR-1285 hsa-miR-326 hsa-miR-1183 hsa-miR-2113
    SwitchGear 3'UTR luciferase reporter plasmid: TFB1M 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TFB1M (see all 7)
    OriGene shRNA RFP: TFB1M
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TFB1M (see all 4)
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000179rRNA (adenine-N6,N6-)-dimethyltransferase activity IEA--
    GO:0003677DNA binding IEA--
    GO:0005515protein binding IPI12897151


    TFB1M for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Tfb1mtm1.2Lrsn for TFB1M
         8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Tfb1m):
     cardiovascular system  cellular  embryogenesis  growth/size  mortality/aging 
     muscle  nervous system  vision/eye 

    TFB1M for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TFB1M gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Mitochondrial Gene Expression
    		Mitochondrial Gene Expression1.00
    2The fatty acid cycling model
    		Energy Metabolism0.04


    2 BioSystems Pathways for TFB1M 
        Mitochondrial Gene Expression
    Energy Metabolism


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TFB1M

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/236 Interacting proteins for TFB1M (Q8WVM01, 2, 3 ENSP000003561344) via UniProtKB, MINT, STRING, and/or I2D (see all 236)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TFAMQ000591, 2, 3, ENSP000004205884EBI-2615570,EBI-1049924 MINT-8079030 I2D: score=3 STRING: ENSP00000420588
    POLRMTO004112, 3, ENSP000002155914MINT-8079030 I2D: score=3 STRING: ENSP00000215591
    ICT1Q141972, ENSP000003015854MINT-8079030 STRING: ENSP00000301585
    MRPS14O607832, ENSP000004207144MINT-8079030 STRING: ENSP00000420714
    MRPS7Q9Y2R92, ENSP000002455394MINT-8079030 STRING: ENSP00000245539
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent IEA--


    TFB1M for ontologies           About GeneDecksing



    Drugs & Compounds
    for TFB1M gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TFB1M for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TFB1M

    1 HMDB Compound for TFB1M    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--
    2 Novoseek chemical compound relationships for TFB1M gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rrna 58.3 4 17031457 (2), 15542390 (1)
    adenine 49.8 2 15110318 (1)

    Search CenterWatch for drugs/clinical trials and news about TFB1M 

    Transcripts
    for TFB1M gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for TFB1M gene: 
    NM_016020.3  

    Unigene Cluster for TFB1M:

    Transcription factor B1, mitochondrial
    Hs.279908  [show with all ESTs]
    Unigene Representative Sequence: NM_016020
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367166(uc003qqj.4 uc003qqk.3) ENST00000468889 ENST00000470239
    ENST00000495806 ENST00000489874 ENST00000487586 ENST00000475849 ENST00000480390
    ENST00000466349

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TFB1M
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate TFB1M (see all 17):
    hsa-miR-579 hsa-miR-3607-3p hsa-miR-330-5p hsa-miR-1260b hsa-miR-1285 hsa-miR-326 hsa-miR-1183 hsa-miR-2113
    SwitchGear 3'UTR luciferase reporter plasmid: TFB1M 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TFB1M (see all 7)
    OriGene shRNA RFP: TFB1M
    OriGene siRNA: TFB1M
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TFB1M
    Clone
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    GenScript: all cDNA clones in your preferred vector: TFB1M (NM_016020)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TFB1M 
    Primer
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    Additional cDNA sequence: 

    AF151833.1 AK289484.1 BC005183.1 BC017788.1 BC054007.1 

    15 DOTS entries:

    DT.99928812  DT.86846782  DT.100746277  DT.121369086  DT.97839404  DT.97778447  DT.92427134  DT.121368986 
    DT.100028155  DT.92427137  DT.101976317  DT.40116452  DT.75120902  DT.91995891  DT.92018285 

    24/136 AceView cDNA sequences (see all 136):

    AA749175 BU634088 BU849912 BM707664 AA761808 CA305915 AI638236 AA450024 
    BU733204 BM559871 AW104676 BC017788 AI973020 AI628397 BM676688 BM714985 
    BF196459 AA405744 BC005183 R47388 CR595073 AA044637 AI680576 BQ929667 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TFB1M    About this scheme

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


    ECgene alternative splicing isoforms for TFB1M

    Expression
    for TFB1M gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TFB1M expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAGATGTCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See TFB1M Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TFB1M

    SOURCE GeneReport for Unigene cluster: Hs.279908

    UniProtKB/Swiss-Prot: TFB1M_HUMAN, Q8WVM0
    Tissue specificity: Ubiquitously expressed

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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TFB1M

    Orthologs
    for TFB1M gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for TFB1M gene from 9/35 species (see all 35)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves TFB1M1 transcription factor B1, mitochondrial 72.81(n)
    74.27(a)    		   428608  XM_426165.3  XP_426165.2 
    lizard
    (Anolis carolinensis)    		 Reptilia TFB1M6
    DIMT16
    		 --
    		 74(a)
    24(a)
    		 1 ↔ 1
    possible ortholog
    		 1(214585736-214616214)
    2(8230132-8238950)
    African clawed frog
    (Xenopus laevis)    		 Amphibia MGC689242 hypothetical protein MGC68924 74.48(n)    BC056010.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii tfb1m1 transcription factor B1, mitochondrial 69.07(n)
    74.62(a)    		   767802  NM_001076769.1  NP_001070237.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG73193
    CG426301    		 rRNA (adenine) methyltransferase3
    CG426301    		 41(a)3
    53.03(n)1
    51.3(a)1    		   68D23
    393201  NM_140242.31  NP_648499.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea T03F1.71 , 3 Protein T03F1.71 43(a)3
    49.8(n)1
    44.21(a)1    		   I(3855664-3859294)3
    1880221  NM_058841.51  NP_491242.21 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT2G474206
    PFC16
    (see all 3)    		 Ribosomal RNA adenine dimethylase family protein
    (see all 3)    		 19(a)
    18(a)
    (see all 3)    		 possible ortholog
    1 ↔ 1
    (see all 3)    		 2(19457485-19458881)
    1(304133-306287)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 3)    		 dimethyladenosine transferase, putative, expressed...
    dimethyladenosine transferase, putative, expressed...
    (see all 3)    		 20(a)
    20(a)
    (see all 3)    		 1 ↔ 1
    possible ortholog
    (see all 3)    		 2(1198096-1202330)
    10(5747475-5753009)
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria rsmA6
    		 16S rRNA dimethyladenosine transferase, SAM-depend...
    		 29(a)
    		 1 ↔ 1
    		 Chromosome(51609-52430)


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

    Paralogs
    for TFB1M gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TFB1M gene
    DIMT12  

    TFB1M for paralogs           About GeneDecksing



    Genomic Variants
    for TFB1M gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/834 NCBI SNPs in TFB1M are shown (see all 834)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs737928171,2
    		C,--153141729(+) CAAAGC/TTAAAT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1129818601,2
    		C,--153141934(+) AGTTAG/CTTTTT 1 -- int11Minor allele frequency- C:0.50NA 2
    rs178130641,2
    		C,F,H,--153142026(+) TTGAAG/ATAGAG 1 -- int18Minor allele frequency- A:0.05NA NS EA 666
    rs1120070481,2
    		C,--153142851(+) AGCACC/TCTTAG 1 -- int11Minor allele frequency- T:0.50NA 2
    rs1145894781,2
    		C,F,--153142913(+) AAAGGG/AACACT 1 -- int11Minor allele frequency- A:0.05WA 118
    rs9127201,2
    		C,F,O,H,--153143048(+) AAATCT/GTTTAC 1 -- int116Minor allele frequency- G:0.06NA NS EA WA 1390
    rs412842301,2
    		F,--153144010(+) CAGCCG/AGCTGC 1 -- int11Minor allele frequency- A:0.03NA 120
    rs412842321,2
    		C,--153144080(+) CAGTTT/CCACAA 1 -- int12Minor allele frequency- C:0.04NA 122
    rs178133211,2
    		C,--153144751(+) AAGTAC/TGGCAA 1 -- int14Minor allele frequency- T:0.01NA 262
    rs612014381,2
    		C,F,--153145020(+) GCGCTG/TGTGGG 1 -- int13Minor allele frequency- T:0.33WA NA 6

    HapMap Linkage Disequilibrium report for TFB1M (155578643 - 155635627 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TFB1M
         1 Indel: 28130
    Human Gene Mutation Database (HGMD): TFB1M

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TFB1M
    DNA2.0 Custom Variant and Variant Library Synthesis for TFB1M

    Disorders / Diseases
    for TFB1M gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TFB1M for disorders           About GeneDecksing

    OMIM gene information: 607033    OMIM disorders: --

    UniProtKB/Swiss-Prot: TFB1M_HUMAN, Q8WVM0
  • Note=Variations in TFB1M may influence the clinical expression of aminoglycoside-induced deafness caused by
    • the A1555G mutation in the mitochondrial 12S rRNA

    7 diseases for TFB1M:    About MalaCards
    hearing loss    parkinson's disease    pneumonia    tuberculosis
    malaria    mycobacterium tuberculosis    sepsis

    Human Genome Epidemiology (HuGE) Navigator: TFB1M (5 documents)

    Export disorders for TFB1M gene to outside databases

    Publications
    for TFB1M gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TFB1M gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with TFB1M)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A human mitochondrial transcription factor is related to RNA adenine methyltransferases and binds S-adenosylmethionine. (PubMed id 11809803)1, 2, 3, 9 McCulloch V.... Shadel G.S. (2002)
    2. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2, 3 Lai C.H....Lin W. (2000)
    3. Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation. (PubMed id 15110318)1, 2, 9 Bykhovskaya Y....Fischel-Ghodsian N. (2004)
    4. Control of mitochondrial transcription specificity factors (TFB1M and TFB2M) by nuclear respiratory factors (NRF-1 and NRF-2) and PGC-1 family coactivators. (PubMed id 15684387)1, 2, 9 Gleyzer N.... Scarpulla R.C. (2005)
    5. Human mitochondrial transcription factor B1 interacts with the C- terminal activation region of h-mtTFA and stimulates transcription independently of its RNA methyltransferase activity. (PubMed id 12897151)1, 2, 9 McCulloch V. and Shadel G.S. (2003)
    6. Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop. (PubMed id 12496758)1, 2, 9 Seidel-Rogol B.L.... Shadel G.S. (2003)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    9. Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA. (PubMed id 12068295)1, 2 Falkenberg M....Gustafsson C.M. (2002)
    10. Mutational screening of the Mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease. (PubMed id 18980857)1, 9 Sanchez-Ferrero E....Alvarez V. (2008)

    External Searches for TFB1M gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing TFB1M gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51106 HGNC: 17037 AceView: TFB1M Ensembl:ENSG00000029639 euGenes: HUgn51106
    ECgene: TFB1M H-InvDB: TFB1M

    Other Databases showing TFB1M gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TFB1M gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TFB1M Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for TFB1M gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for TFB1M gene:
    Search GeneIP for patents involving TFB1M

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