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

TGS1 Gene

protein-coding   GIFtS: 60
GCID: GC08P056685

Trimethylguanosine Synthase 1

(Previous names: nuclear receptor coactivator 6 interacting protein, trimethylguanosine...)
(Previous symbol: NCOA6IP)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TGS1 Gene: 
TGS1 (trimethylguanosine synthase 1) is a protein-coding gene. Diseases associated with TGS1 include hepatocellular carcinoma, and spinal muscular atrophy, and among its related super-pathways are Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Metabolism of non-coding RNA. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_008183.19  NC_018919.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TGS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96RS0

  • 2 DME Specific Peptides for TGS1 (Q96RS0)
     WFSVTPE  GGNTIQFA 

    TGS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TGS1 Protein Expression
    REFSEQ proteins: NP_079107.6  
    ENSEMBL proteins: 
     ENSP00000260129   ENSP00000430467  
    Reactome Protein details: Q96RS0
    Human Recombinant Protein Products for TGS1: 
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    Novus Biologicals TGS1 Protein
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TGS1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0015030Cajal body IEA--

    TGS1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for TGS1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    TGS1 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0008168methyltransferase activity ----
    GO:0016740transferase activity ----
    GO:0071164RNA trimethylguanosine synthase activity IDA16687569
         
    TGS1 for ontologies           About GeneDecksing


    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  mortality/aging 

    TGS1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TGS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

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    1 QIAGEN miScript miRNA Assays for microRNA that regulate TGS1:
    hsa-miR-4276
    SwitchGear 3'UTR luciferase reporter plasmidTGS1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TGS1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.74
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    2snRNP Assembly
    Metabolism of non-coding RNA1.00
    snRNP Assembly1.00
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4Metabolism of mRNA
    Metabolism of RNA0.92
    5Generic Transcription Pathway
    Gene Expression0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/8        Reactome Pathways for TGS1 (see all 8)
        Metabolism
    snRNP Assembly
    Metabolism of non-coding RNA
    Fatty acid, triacylglycerol, and ketone body metabolism
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)


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


    TGS1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TGS1

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

    5/128 Interacting proteins for TGS1 (Q96RS02, 3 ENSP000002601294) via UniProtKB, MINT, STRING, and/or I2D (see all 128)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COILP384322, 3, ENSP000002403164MINT-2878132 MINT-2878113 I2D: score=3 STRING: ENSP00000240316
    NOP58Q9Y2X32, 3, ENSP000002642794MINT-8189210 MINT-8189226 I2D: score=1 STRING: ENSP00000264279
    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): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

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

    TGS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TGS1

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    1 QIAGEN miScript miRNA Assays for microRNA that regulate TGS1:
    hsa-miR-4276
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    Inhib. RNA
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    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 

    24/100 AceView cDNA sequences (see all 100):

    AA234475 AI379695 BU632676 BU156412 AA360838 BQ218527 AK054705 CR594349 
    BE891053 AL832426 BI335838 BM699450 AV718265 AA915951 BE550365 BC011999 
    BU160185 AK026648 BM670094 AW263283 AF432215 BM971348 BX349018 BI822848 

    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™, 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

    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


    See TGS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TGS1

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including TGS1: 
              Nuclear Receptors & Coregulators in human mouse rat
              PPAR Targets in human mouse rat

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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)
    About This Section

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

    Orthologs for TGS1 gene from 8/19 species (see all 19)    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 62.33(n)
    55.14(a)
      421126  NM_001006389.1  NP_001006389.1 
    lizard
    (Anolis carolinensis)
    Reptilia TGS16
    trimethylguanosine synthase 1
    43(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 52(n)
    42.69(a)
      100537552  XM_003197865.1  XP_003197913.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tatl6
    tat-like
    36(a)
    1 ↔ 1
    3R(14081252-14083399)
    worm
    (Caenorhabditis elegans)
    Secernentea T08G11.46
    Protein T08G11.4, isoform a
    33(a)
    1 ↔ 1
    I(8902746-8905534)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TGS1(YPL157W)4
    TGS11
    Trimethyl guanosine synthase, conserved nucleolar methyl more4
    Tgs1p1
    46.86(n)1
    38.12(a)1
      16(254814-255761)4
    8559461, 4  NP_015168.11, 4 


    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)
    About This Section
      --

    (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) 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

    10/1162 SNPs in TGS1 are shown (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
    ----------
    VAR_0247344
    ----see VAR_0247342 I T mis40--------
    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

    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

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606461    OMIM disorders: --

    9 diseases for TGS1:    About MalaCards
    hepatocellular carcinoma    spinal muscular atrophy    muscular atrophy    spina bifida
    chronic lymphocytic leukemia    gastric cancer    leukemia    hepatitis
    neuronitis


    TGS1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for TGS1 gene, integrated from 9 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. (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. (2001)
    3. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (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. (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. (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. (2008)
    7. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)1, 4 Gudbjartsson D.F....Stefansson K. (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. (2008)
    9. Ongoing U snRNP biogenesis is required for the integrity of Cajal bodies. (PubMed id 16687569)1, 2 Lemm I.... Luehrmann R. (2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 96764 HGNC: 17843 AceView: NCOA6IP Ensembl:ENSG00000137574 euGenes: HUgn96764
    ECgene: TGS1 Kegg: 96764 H-InvDB: TGS1

    (According to HUGE)
    About This Section
      --

    (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 TGS1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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