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TFB1M Gene

protein-coding   GIFtS: 60
GCID: GC06M155578

Transcription Factor B1, Mitochondrial

  See TFB1M-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Transcription Factor B1, Mitochondrial1 2     Dimethyladenosine Transferase 1, Mitochondrial2
Mitochondrial 12S RRNA Dimethylase 12 3     Homolog Of Yeast Mitochondrial Transcription Factor B2
h-mtTFB12 3     Mitochondrial Dimethyladenosine Transferase 12
hTFB1M2 3     mtTFB2
mtTFB12 3     EC 2.1.1.-3
S-Adenosylmethionine-6-N', N'-Adenosyl(RRNA) Dimethyltransferase 12 3     h-mtTFB3
CGI752 5     Mitochondrial Transcription Factor B13
Dimethyladenosine Transferase 11     EC 2.1.18
mitochondrial1     

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

Export aliases for TFB1M gene to outside databases

Previous GC identifers: GC06M155054 GC06M155474 GC06M155609 GC06M155670 GC06M153141


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 dgke-related atypical hemolytic-uremic syndrome. GO annotations related to this gene include rRNA (adenine-N6,N6-)-dimethyltransferase activity. An important paralog of this gene is DIMT1.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   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 plasmidTFB1M promoter sequence
   Search Chromatin IP Primers for TFB1M

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
155,577,264 bp from pter      End:
155,635,627 bp from pter
Size:
58,364 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for TFB1M at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TFB1M (Q8WVM0) (see all 6)
     QNFLLDL  QKEVAER  RLPPLPTI  GPFVYGRT 


    See TFB1M Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057104.2  
    ENSEMBL proteins: 
     ENSP00000356134  
    Reactome Protein details: Q8WVM0

    TFB1M Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for TFB1M 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     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 domain: IPB001737 Ribosomal RNA adenine dimethylase

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


    Find genes that share domains with TFB1M           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000179rRNA (adenine-N6,N6-)-dimethyltransferase activity IEA--
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding ----
    GO:0005515protein binding IPI12897151
    GO:0008649rRNA methyltransferase activity ----
         
    Find genes that share ontologies with TFB1M           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tfb1m):
     cardiovascular system  cellular  embryogenesis  growth/size/body  mortality/aging 
     muscle  nervous system  vision/eye 

    Find genes that share phenotypes with TFB1M           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tfb1mtm1.2Lrsn for TFB1M

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TFB1M
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    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 plasmidTFB1M 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TFB1M

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TFB1M_HUMAN, Q8WVM0: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    golgi apparatus1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with TFB1M           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for TFB1M About    
    See pathways by source

    SuperPathContained pathways About
    1Mitochondrial Gene Expression
    Mitochondrial Gene Expression
    2Energy Metabolism
    Energy Metabolism


    Find genes that share SuperPaths with TFB1M           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for TFB1M
        Mitochondrial Gene Expression
    Energy Metabolism

    1 Reactome Pathway for TFB1M
        Transcriptional activation of mitochondrial biogenesis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TFB1M
    Interactions:

        GeneGlobe Interaction Network for TFB1M

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TFB1M (Q8WVM01, 2, 3 ENSP000003561344) via UniProtKB, MINT, STRING, and/or I2D (see all 312)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POLRMTO004112, 3MINT-8079030 I2D: score=3 
    TFAMQ000591, 2, 3, ENSP000004205884EBI-2615570,EBI-1049924 MINT-8079030 I2D: score=3 STRING: ENSP00000420588
    ICT1Q141972, ENSP000003015854MINT-8079030 STRING: ENSP00000301585
    MRPS11P829122, ENSP000003173764MINT-8079030 STRING: ENSP00000317376
    MRPS14O607832, ENSP000004207144MINT-8079030 STRING: ENSP00000420714
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000154rRNA modification ----
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--

    Find genes that share ontologies with TFB1M           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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 inferred 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)



    Find genes that share compounds with TFB1M           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Selected qRT-PCR 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 plasmidTFB1M 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat TFB1M
      QuantiFast Probe-based Assays in human, mouse, rat TFB1M

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 136):

    AA405744 AI973020 BC005183 BU733204 BM559871 BU849912 BM707664 BM676688 
    AW104676 AI628397 CA305915 R47388 AA749175 CR595073 AA450024 BC017788 
    BU634088 AA761808 BF196459 AI638236 BM714985 AA044637 AI554608 BM738942 

    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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TFB1M expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGATGTCTT
    TFB1M Expression
    About this image

    TFB1M Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TFB1M Protein Expression

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

    Orthologs for TFB1M gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tfb1m1 , 5 transcription factor B1, mitochondrial1, 5 85.64(n)1
    86.14(a)1
      17 (2.01 cM)5
    2244811  NM_146074.11  NP_666186.11 
     35192635 
    chicken
    (Gallus gallus)
    Aves TFB1M1 transcription factor B1, mitochondrial 72.56(n)
    73.62(a)
      428608  XM_004935644.1  XP_004935701.1 
    lizard
    (Anolis carolinensis)
    Reptilia TFB1M6
    transcription factor B1, mitochondrial
    73(a)
    1 ↔ 1
    1(214582674-214620446)
    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
    mtTFB11
    rRNA (adenine) methyltransferase3
    Mitochondrial Transcription Factor B11
    41(a)3
    53.03(n)1
    51.3(a)1
      68D23
    86740191  NM_140242.41  NP_648499.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T03F1.71 , 3 T03F1.71 43(a)3
    50(n)1
    44.21(a)1
      I(3855664-3859294)3
    1880221  NM_058841.61  NP_491242.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DIM16
    Essential 18S rRNA dimethylase (dimethyladenosine ...
    22(a)
    1 → many
    XVI(39121-40077) YPL266W


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

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

    Find genes that share paralogs with TFB1M           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TFB1M (see all 1445)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1867521,2
    F--153188927(+) atttaC/Tatata 1 -- int10--------
    rs1833335251,2
    --153189057(+) ATAAAC/TATATA 1 -- int10--------
    rs1875112691,2
    --153189100(+) AAATTA/GTATAT 1 -- int10--------
    rs1899648801,2
    --153189132(+) AAATTA/GTATAT 1 -- int10--------
    rs1880729871,2
    --153189179(+) ATATAA/TAAATA 1 -- int10--------
    rs1925255591,2
    --153189226(+) TATATA/TTAAAT 1 -- int10--------
    rs1850086531,2
    --153189280(+) TATATA/GTATAA 1 -- int10--------
    rs1130820301,2
    C,F--155576151(+) CCAGGC/TGTGAT 1 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1889908691,2
    --155576161(+) TCATGC/TGCACC 1 -- ds50010--------
    rs752373921,2
    C--155576222(+) GGAGGC/TGGAGG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for TFB1M (155577264 - 155635627 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for TFB1M:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1338847CNV Deletion17803354
    nsv526576CNV Loss19592680
    nsv886790CNV Loss21882294
    nsv886789CNV Gain21882294

    Human Gene Mutation Database (HGMD): TFB1M
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TFB1M
    DNA2.0 Custom Variant and Variant Library Synthesis for TFB1M

    (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.)
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    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

  • 1 disease for TFB1M:    
    About MalaCards
    dgke-related atypical hemolytic-uremic syndrome


    Find genes that share disorders with TFB1M           About GenesLikeMe

    Genetic Association Database (GAD): TFB1M
    Human Genome Epidemiology (HuGE) Navigator: TFB1M (5 documents)

    Export disorders for TFB1M gene to outside databases

    (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)
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    PubMed articles for TFB1M gene, integrated from 10 sources (see all 35):
    (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. (Mol. Cell. Biol. 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.-C. (Genome Res. 2000)
    3. Mutational screening of the mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease. (PubMed id 18980857)1, 4, 9 SA!nchez-Ferrero E....Alvarez V. (amp 2009)
    4. 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. (Mol. Genet. Metab. 2004)
    5. 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. (Mol. Cell. Biol. 2005)
    6. Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy. (PubMed id 19096125)1, 4, 9 Alonso-Montes C....Coto E. (Dis. Markers 2008)
    7. 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. (Mol. Cell. Biol. 2003)
    8. 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. (Nat. Genet. 2003)
    9. A common variant in TFB1M is associated with reduced insulin secretion and increased future risk of type 2 diabetes. (PubMed id 21195351)1, 4 Koeck T....Ling C. (Cell Metab. 2011)
    10. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

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

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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