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TGS1 Gene

protein-coding   GIFtS: 61
GCID: GC08P056685

Trimethylguanosine Synthase 1

(Previous names: nuclear receptor coactivator 6 interacting protein, trimethylguanosine...)
(Previous symbol: NCOA6IP)
  See TGS1-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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Aliases
Trimethylguanosine Synthase 11 2     Trimethylguanosine Synthase Homolog (S. Cerevisiae)1
NCOA6IP1 2 3 5     SEREX-defined2
PIMT2 3 5     PRIP-Interacting Protein PIPMT2
Nuclear Receptor Coactivator 6 Interacting Protein1 2     PRIP-Interacting Protein With Methyltransferase Domain2
Cap-Specific Guanine-N2 Methyltransferase2 3     Trimethylguanosine Synthase2
Hepatocellular Carcinoma-Associated Antigen 1372 3     Trimethylguanosine Synthase Homolog2
Nuclear Receptor Coactivator 6-Interacting Protein2 3     EC 2.1.1.-3
PIPMT2 3     HCA1373
CLL-Associated Antigen KW-22 3     EC 2.1.18
PRIP-Interacting Protein With Methyltransferase Motif2 3     

External Ids:    HGNC: 178431   Entrez Gene: 967642   Ensembl: ENSG000001375747   OMIM: 6064615   UniProtKB: Q96RS03   

Export aliases for TGS1 gene to outside databases

Previous GC identifers: GC08P056849 GC08P052154


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TGS1 Gene:
TGS1 (trimethylguanosine synthase 1) is a protein-coding gene. Diseases associated with TGS1 include hepatocellular carcinoma. GO annotations related to this gene include RNA trimethylguanosine synthase activity.

UniProtKB/Swiss-Prot: TGS1_HUMAN, Q96RS0
Function: Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m(7)G) caps of
snRNAs and snoRNAs to a 2,2,7-trimethylguanosine (m(2,2,7)G) cap structure. The enzyme is specific for guanine,
and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their
concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies
(CBs). Plays a role in transcriptional regulation

Gene Wiki entry for TGS1 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_000008.10  NT_008183.20  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TGS1 gene promoter:
         TBP   AML1a   POU3F1   PPAR-gamma1   NRF-2   TFIID   Cart-1   ZID   PPAR-gamma2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TGS1 promoter sequence
   Search Chromatin IP Primers for TGS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TGS1


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

Entrez Gene cytogenetic band: 8q11   Ensembl cytogenetic band:  8q12.1   HGNC cytogenetic band: 8q11

TGS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGS1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P056685:  view genomic region     (about GC identifiers)

Start:
56,685,701 bp from pter      End:
56,738,007 bp from pter
Size:
52,307 bases      Orientation:
plus 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: TGS1_HUMAN, Q96RS0 (See protein sequence)
Recommended Name: Trimethylguanosine synthase  
Size: 853 amino acids; 96620 Da
Subunit: May form homooligomers. Interacts with CREBBP/CBP, EED/WAIT1, EP300/P300, NCOA6/PRIP, PPARBP/PBP and SMN
Sequence caution: Sequence=AAH11999.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB15516.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
2 PDB 3D structures from and Proteopedia for TGS1:
3EGI (3D)        3GDH (3D)    
Secondary accessions: A6NJQ5 Q5GH23 Q8TDG9 Q96QU3 Q9H5V3

Explore the universe of human proteins at neXtProt for TGS1: NX_Q96RS0

Explore proteomics data for TGS1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys44, Lys646
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for TGS1 (Q96RS0)
     WFSVTPE  GGNTIQFA 


    See TGS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079107.6  
    ENSEMBL proteins: 
     ENSP00000260129   ENSP00000430467  
    Reactome Protein details: Q96RS0

    TGS1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TGS1

     
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    Search eBioscience for ELISAs for TGS1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR019012 RNA_cap_Gua-N2-MeTrfase

    Graphical View of Domain Structure for InterPro Entry Q96RS0

    ProtoNet protein and cluster: Q96RS0

    1 Blocks protein domain: IPB000241 Putative RNA methylase

    UniProtKB/Swiss-Prot: TGS1_HUMAN, Q96RS0
    Similarity: Belongs to the methyltransferase superfamily. Trimethylguanosine synthase family


    Find genes that share domains with TGS1           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: TGS1_HUMAN, Q96RS0
    Function: Catalyzes the 2 serial methylation steps for the conversion of the 7-monomethylguanosine (m(7)G) caps of
    snRNAs and snoRNAs to a 2,2,7-trimethylguanosine (m(2,2,7)G) cap structure. The enzyme is specific for guanine,
    and N7 methylation must precede N2 methylation. Hypermethylation of the m7G cap of U snRNAs leads to their
    concentration in nuclear foci, their colocalization with coilin and the formation of canonical Cajal bodies
    (CBs). Plays a role in transcriptional regulation
    Catalytic activity: S-adenosyl-L-methionine + m(7)G(5')pppR-RNA = S-adenosyl-L-homocysteine + m(2,7)G(5')pppR-RNA
    Catalytic activity: S-adenosyl-L-methionine + m(2,7)G(5')pppR-RNA = S-adenosyl-L-homocysteine +
    m(2,2,7)G(5')pppR-RNA
    Biophysicochemical properties: Kinetic parameters: KM=30 uM for m(7)GDP; KM=5 uM for S-adenosyl-L-methionine; pH
    dependence: Optimum pH is 8.5-9.5;

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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008168methyltransferase activity ----
    GO:0016740transferase activity ----
    GO:0071164RNA trimethylguanosine synthase activity IDA16687569
         
    Find genes that share ontologies with TGS1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TGS1:
     Decreased influenza A virus in 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Tgs1):
     cellular  embryogenesis  growth/size/body  mortality/aging 

    Find genes that share phenotypes with TGS1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Tgs1tm1.2Jkr for TGS1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TGS1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TGS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TGS1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TGS1

    miRNA
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    miRTarBase miRNAs that target TGS1:
    hsa-mir-139-5p (MIRT047774)

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    1 qRT-PCR Assays for microRNA that regulate TGS1:
    hsa-miR-4276
    SwitchGear 3'UTR luciferase reporter plasmidTGS1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TGS1

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    GenScript: all cDNA clones in your preferred vector (see all 2): TGS1 (NM_080591)
    Browse Sino Biological Human cDNA Clones
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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
    TGS1_HUMAN, Q96RS0: Cytoplasm. Nucleus, Cajal body. Note=A 90 kDa isoform is found in the nucleus while a 55 kDa
    isoform is found in the cytoplasm and colocalizes with the tubulin network
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    Find genes that share ontologies with TGS1           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 TGS1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    PPARA Activates Gene Expression0.63
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    Transcriptional Regulation of White Adipocyte Differentiation0.38
    2Circadian Repression of Expression by REV-ERBA
    Circadian Repression of Expression by REV-ERBA0.88
    YAP1- and WWTR1 (TAZ)-stimulated gene expression0.40
    RORA Activates Circadian Expression0.88
    3Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    Activation of Gene Expression by SREBP (SREBF)0.75
    4Circadian Clock
    Circadian Clock0.66
    BMAL1-CLOCK/NPAS2 Activates Circadian Expression0.66
    5Regulation of Glucokinase by Glucokinase Regulatory Protein
    Metabolism of non-coding RNA0.54
    snRNP Assembly0.54


    Find genes that share SuperPaths with TGS1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected Reactome Pathways for TGS1 (see all 11)
        Transcriptional regulation of white adipocyte differentiation
    Circadian Clock
    Transcriptional activation of mitochondrial biogenesis
    snRNP Assembly
    YAP1- and WWTR1 (TAZ)-stimulated gene expression


    1 Kegg Pathway  (Kegg details for TGS1):
        RNA transport

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGS1: 
              Nuclear Receptors & Coregulators in human mouse rat
              PPAR Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TGS1

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

    Selected Interacting proteins for TGS1 (Q96RS01, 2, 3 ENSP000002601294) via UniProtKB, MINT, STRING, and/or I2D (see all 199)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NOP58Q9Y2X31, 2, 3, ENSP000002642794EBI-949244,EBI-395469 MINT-8189210 MINT-8189226 I2D: score=1 STRING: ENSP00000264279
    COILP384322, 3, ENSP000002403164MINT-2878132 MINT-2878113 I2D: score=3 STRING: ENSP00000240316
    FBLP220872, 3, ENSP000002218014MINT-8188065 I2D: score=1 STRING: ENSP00000221801
    XPO1O149802, 3MINT-8189194 I2D: score=1 
    EEDO755303, ENSP000002633604I2D: score=2 STRING: ENSP00000263360
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000387spliceosomal snRNP assembly TAS--
    GO:0001510RNA methylation ----
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated IEA--
    GO:00094527-methylguanosine RNA capping IEA--

    Find genes that share ontologies with TGS1           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 TGS1



    (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 TGS1 gene: 
    NM_024831.6  

    Unigene Cluster for TGS1:

    Trimethylguanosine synthase 1
    Hs.335068  [show with all ESTs]
    Unigene Representative Sequence: AF286340
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260129(uc003xsj.4 uc010lyh.3) ENST00000523948 ENST00000519494

    miRNA
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    Block miRNA regulation of human, mouse, rat TGS1 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate TGS1:
    hsa-miR-4276
    SwitchGear 3'UTR luciferase reporter plasmidTGS1 3' UTR sequence
    Inhib. RNA
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    Primer
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      Search QuantiFast Probe-based Assays in human, mouse, rat TGS1

    Additional mRNA sequence: 

    AF147389.1 AF286340.1 AF432215.1 AK026648.1 AK054705.1 AK055178.1 AK314693.1 AL832426.1 
    AY028423.1 AY534911.1 BC011999.1 BX648548.1 

    9 DOTS entries:

    DT.210042  DT.99996602  DT.95363373  DT.92421259  DT.100647450  DT.101971924  DT.91671929  DT.100022368 
    DT.95103538 

    Selected AceView cDNA sequences (see all 100):

    AA360838 AA915951 AA234475 AW263283 BM971348 AL832426 AK054705 BQ218527 
    AV718265 BM699450 BI335838 BU160185 CR594349 BE550365 AF432215 BU632676 
    BC011999 BE891053 AI379695 BU156412 BM670094 AK026648 BF002055 C03307 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for TGS1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b
    SP1:                                -                                                                           
    SP2:              -                 -                                               -     -                     
    SP3:                                                                                                            


    ECgene alternative splicing isoforms for TGS1

    (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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    TGS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCACTGCACT
    TGS1 Expression
    About this image

    TGS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TGS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.335068

    UniProtKB/Swiss-Prot: TGS1_HUMAN, Q96RS0
    Tissue specificity: Ubiquitously expressed. High expression in heart, skeletal muscle, kidney, liver and placenta

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TGS1: 
              Nuclear Receptors & Coregulators in human mouse rat
              PPAR Targets in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGS1

    (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 TGS1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tgs11 , 5 trimethylguanosine synthase homolog (S. cerevisiae)1, 5 81.98(n)1
    75.06(a)1
      4 (1.99 cM)5
    1169401  NM_054089.41  NP_473430.31 
     35748755 
    chicken
    (Gallus gallus)
    Aves TGS11 trimethylguanosine synthase 1 62.73(n)
    56.02(a)
      421126  NM_001006389.1  NP_001006389.1 
    lizard
    (Anolis carolinensis)
    Reptilia TGS16
    trimethylguanosine synthase 1
    45(a)
    1 ↔ 1
    GL343244.1(216027-241845)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.330992 Xenopus laevis transcribed sequence with moderate similarity more 77.79(n)    AW642636.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005375521 trimethylguanosine synthase-like 53.34(n)
    44.85(a)
      100537552  XM_005163413.1  XP_005163470.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tatl6
    tat-like
    35(a)
    1 ↔ 1
    3R(14081252-14083399)
    worm
    (Caenorhabditis elegans)
    Secernentea T08G11.46
    Protein T08G11.4, isoform a
    32(a)
    1 ↔ 1
    I(8902746-8905534) WBGene00011631
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TGS1(YPL157W)4 Trimethyl guanosine synthase, conserved nucleolar methyl more   --   16(254814-255761) 855946  NP_015168.1 


    ENSEMBL Gene Tree for TGS1 (if available)
    TreeFam Gene Tree for TGS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 TGS1 (see all 1162)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1392164271,2
    C--56688070(+) AATGG-/AGAA  
            
    AGAAA
    1 -- int10--------
    rs70133011,2
    C,F,A,H--56688226(+) TGGGGG/TTATCT 1 -- int112Minor allele frequency- T:0.49NS EA NA WA 770
    rs789895551,2
    C,F--56688506(+) AAAATA/GTCAAG 1 -- int11Minor allele frequency- G:0.02WA 118
    rs754072191,2
    C,F--56688521(+) ATGAGG/AACTAA 1 -- int11Minor allele frequency- A:0.06WA 118
    rs1410128411,2
    C--56688585(+) GAACCG/TCAGAC 1 -- int10--------
    rs1502154401,2
    C--56688589(+) CGCAGA/GCAAAA 1 -- int10--------
    rs1113384201,2
    C,F--56688661(+) CCTGTG/CTCAAG 1 -- int11Minor allele frequency- C:0.50NA 2
    rs125413841,2
    C,F,H--56688732(+) tctgcA/Gtgaga 1 -- int18Minor allele frequency- G:0.04NS EA NA 522
    rs1129811271,2
    F--56688809(+) GGAACC/TGAACT 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs712565651,2
    C--56688837(+) TTTTTT/-GAGAC 1 -- int11Minor allele frequency- -:0.00NA 2

    HapMap Linkage Disequilibrium report for TGS1 (56685701 - 56738007 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for TGS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2422388CNV Duplication17116639
    nsv510148CNV Loss20534489
    nsv527341CNV Gain19592680
    nsv890930CNV Gain21882294
    dgv459n21CNV Gain19592680
    dgv889n27CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TGS1
    DNA2.0 Custom Variant and Variant Library Synthesis for TGS1

    (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: 606461    OMIM disorders: --

    1 disease for TGS1:    
    About MalaCards
    hepatocellular carcinoma


    Find genes that share disorders with TGS1           About GenesLikeMe

    Genetic Association Database (GAD): TGS1
    Human Genome Epidemiology (HuGE) Navigator: TGS1 (4 documents)

    Export disorders for TGS1 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 TGS1 gene, integrated from 10 sources (see all 48):
    (articles sorted by number of sources associating them with TGS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure analysis of the conserved methyltransferase domain of human trimethylguanosine synthase TGS1. (PubMed id 19307714)1, 2, 3 Monecke T.... Ficner R. (Acta Crystallogr. D 2009)
    2. Cloning and characterization of PIMT, a protein with a methyltransferase domain, which interacts with and enhances nuclear receptor coactivator PRIP function. (PubMed id 11517327)1, 2, 3 Zhu Y.-J.... Reddy J.K. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    3. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Structural basis for m7G-cap hypermethylation of small nuclear, small nucleolar and telomerase RNA by the dimethyltransferase TGS1. (PubMed id 19386620)1, 2 Monecke T.... Ficner R. (Nucleic Acids Res. 2009)
    6. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (J. Lipid Res. 2008)
    7. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    8. Genetic and biochemical analysis of yeast and human cap trimethylguanosine synthase: functional overlap of 2,2,7- trimethylguanosine caps, small nuclear ribonucleoprotein components, pre-mRNA splicing factors, and RNA decay pathways. (PubMed id 18775984)1, 2 Hausmann S.... Schwer B. (J. Biol. Chem. 2008)
    9. Ongoing U snRNP biogenesis is required for the integrity of Cajal bodies. (PubMed id 16687569)1, 2 Lemm I.... Luehrmann R. (Mol. Biol. Cell 2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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: 96764 HGNC: 17843 AceView: NCOA6IP Ensembl:ENSG00000137574 euGenes: HUgn96764
    ECgene: TGS1 Kegg: 96764 H-InvDB: TGS1

    (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 TGS1 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 TGS1 gene:
    Search GeneIP for patents involving TGS1

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



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