Format

Send to:

Choose Destination
    • Showing Current items.

    TGS1 trimethylguanosine synthase 1 [ Homo sapiens (human) ]

    Gene ID: 96764, updated on 15-Jun-2019

    Summary

    Official Symbol
    TGS1provided by HGNC
    Official Full Name
    trimethylguanosine synthase 1provided by HGNC
    Primary source
    HGNC:HGNC:17843
    See related
    Ensembl:ENSG00000137574 MIM:606461
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PIMT; PIPMT; NCOA6IP
    Expression
    Ubiquitous expression in lymph node (RPKM 6.7), appendix (RPKM 5.1) and 25 other tissues See more
    Orthologs

    Genomic context

    See TGS1 in Genome Data Viewer
    Location:
    8q12.1
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (55773232..55826445)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (56685791..56738007)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375846 Neighboring gene RNA, 5S ribosomal pseudogene 265 Neighboring gene transmembrane protein 68 Neighboring gene LYN proto-oncogene, Src family tyrosine kinase Neighboring gene small nucleolar RNA, H/ACA box 1B Neighboring gene RNA, 7SL, cytoplasmic 798, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.
    NHGRI GWA Catalog
    Many sequence variants affecting diversity of adult human height.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Pr55(Gag) gag PIMT (peroxisome proliferator-activated receptor-interacting protein with methyltransferase) protein enhances the expression of HIV-1 Gag, CA and RT PubMed
    Rev rev PIMT associates with Gag-Pol-RRE RNA in the presence of HIV-1 Rev, suggesting PIMT selectively modulates the expression of Rev/RRE-dependent RNAs PubMed
    capsid gag PIMT (peroxisome proliferator-activated receptor-interacting protein with methyltransferase) protein enhances the expression of HIV-1 Gag, CA and RT PubMed
    reverse transcriptase gag-pol PIMT (peroxisome proliferator-activated receptor-interacting protein with methyltransferase) protein enhances the expression of HIV-1 Gag, CA and RT PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Activation of gene expression by SREBF (SREBP), organism-specific biosystem (from REACTOME)
      Activation of gene expression by SREBF (SREBP), organism-specific biosystemAfter transiting to the nucleus SREBPs (SREBP1A/1C/2, SREBFs) bind short sequences, sterol regulatory elements (SREs), in the promoters of target genes (reviewed in Eberle et al. 2004, Weber et al. 2...
    • BMAL1:CLOCK,NPAS2 activates circadian gene expression, organism-specific biosystem (from REACTOME)
      BMAL1:CLOCK,NPAS2 activates circadian gene expression, organism-specific biosystemAs inferred from mouse, BMAL1:CLOCK (ARNTL:CLOCK) and BMAL1:NPAS2 (ARNTL:NPAS2) heterodimers bind to sequence elements (E boxes) in the promoters of target genes and enhance transcription (Gekakis et...
    • Circadian Clock, organism-specific biosystem (from REACTOME)
      Circadian Clock, organism-specific biosystemAt the center of the mammalian circadian clock is a negative transcription/translation-based feedback loop: The BMAL1:CLOCK/NPAS2 (ARNTL:CLOCK/NPAS2) heterodimer transactivates CRY and PER genes by b...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
      Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Metabolism of non-coding RNA, organism-specific biosystem (from REACTOME)
      Metabolism of non-coding RNA, organism-specific biosystemThe term non-coding is commonly employed for RNA that does not encode a protein, but this does not mean that such RNAs do not contain information nor have function. There is considerable evidence tha...
    • Mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
      Mitochondrial biogenesis, organism-specific biosystemMitochondrial biogenesis and remodeling occur in response to exercise and redox state (reviewed in Scarpulla et al. 2012, Handy and Loscalzo 2012, Piantadosi and Suliman 2012, Scarpulla 2011, Wenz et...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...
    • PPARA activates gene expression, organism-specific biosystem (from REACTOME)
      PPARA activates gene expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
    • RNA transport, organism-specific biosystem (from KEGG)
      RNA transport, organism-specific biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • RNA transport, conserved biosystem (from KEGG)
      RNA transport, conserved biosystemRNA transport from the nucleus to the cytoplasm is fundamental for gene expression. The different RNA species that are produced in the nucleus are exported through the nuclear pore complexes (NPCs) ...
    • RORA activates gene expression, organism-specific biosystem (from REACTOME)
      RORA activates gene expression, organism-specific biosystemAs inferred from mouse, RORA binds ROR elements (ROREs) in DNA and recruits the coactivators PPARGC1A (PGC-1alpha) and p300 (EP300, a histone acetylase) to activate transcription.
    • Regulation of cholesterol biosynthesis by SREBP (SREBF), organism-specific biosystem (from REACTOME)
      Regulation of cholesterol biosynthesis by SREBP (SREBF), organism-specific biosystemSterol regulatory element binding proteins (SREBPs, SREBFs) respond to low cholesterol concentrations by transiting to the nucleus and activating genes involved in cholesterol and lipid biosynthesis ...
    • Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
      Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
    • Transcriptional activation of mitochondrial biogenesis, organism-specific biosystem (from REACTOME)
      Transcriptional activation of mitochondrial biogenesis, organism-specific biosystemPhosphorylated PPARGC1A (PGC-1alpha) does not bind DNA directly but instead interacts with other transcription factors, notably NRF1 and NRF2 (via HCF1). NRF1 and NRF2 together with PPARGC1A activate...
    • Transcriptional regulation of white adipocyte differentiation, organism-specific biosystem (from REACTOME)
      Transcriptional regulation of white adipocyte differentiation, organism-specific biosystemAdipogenesis is the process of cell differentiation by which preadipocytes become adipocytes. During this process the preadipocytes cease to proliferate, begin to accumulate lipid droplets and develo...
    • YAP1- and WWTR1 (TAZ)-stimulated gene expression, organism-specific biosystem (from REACTOME)
      YAP1- and WWTR1 (TAZ)-stimulated gene expression, organism-specific biosystemYAP1 and WWTR1 (TAZ) are transcriptional co-activators, both homologues of the Drosophila Yorkie protein. They both interact with members of the TEAD family of transcription factors, and WWTR1 intera...
    • snRNP Assembly, organism-specific biosystem (from REACTOME)
      snRNP Assembly, organism-specific biosystemSmall nuclear ribonucleoproteins (snRNPs) are crucial for pre-mRNA processing to mRNAs. Each snRNP contains a small nuclear RNA (snRNA) and an extremely stable core of seven Sm proteins. The U6 snRNA...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22995, DKFZp762A163

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    RNA trimethylguanosine synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    RNA trimethylguanosine synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    7-methylguanosine RNA capping IEA
    Inferred from Electronic Annotation
    more info
     
    7-methylguanosine cap hypermethylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    7-methylguanosine cap hypermethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of lipid metabolic process TAS
    Traceable Author Statement
    more info
     
    ribonucleoprotein complex biogenesis IC
    Inferred by Curator
    more info
    PubMed 
    spliceosomal snRNP assembly TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Cajal body IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    small nuclear ribonucleoprotein complex IC
    Inferred by Curator
    more info
    PubMed 

    General protein information

    Preferred Names
    trimethylguanosine synthase
    Names
    CLL-associated antigen KW-2
    PRIP-interacting protein with methyltransferase motif
    cap-specific guanine-N2 methyltransferase
    hepatocellular carcinoma-associated antigen 137
    nuclear receptor coactivator 6-interacting protein
    NP_001304831.1
    NP_001350113.1
    NP_079107.6
    XP_006716548.1
    XP_016869493.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001317902.2NP_001304831.1  trimethylguanosine synthase isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences compared to variant 1. These differences result in the use of a downstream translation start site, a frameshift and an early stop codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC018607, AC100817, AF286340, BX648548
      UniProtKB/Swiss-Prot
      Q96RS0
      Conserved Domains (1) summary
      cl17173
      Location:598621
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    2. NM_001363184.2NP_001350113.1  trimethylguanosine synthase isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC018607, AF286340, AF432215, BM853546, DA456243, DB082992
      Conserved Domains (1) summary
      pfam09445
      Location:598750
      Methyltransf_15; RNA cap guanine-N2 methyltransferase
    3. NM_024831.8NP_079107.6  trimethylguanosine synthase isoform 1

      See identical proteins and their annotated locations for NP_079107.6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC018607, AF286340, AF432215, BM853546, DB082992
      Consensus CDS
      CCDS34894.1
      UniProtKB/Swiss-Prot
      Q96RS0
      Related
      ENSP00000260129.5, ENST00000260129.5
      Conserved Domains (1) summary
      pfam09445
      Location:691843
      Methyltransf_15; RNA cap guanine-N2 methyltransferase

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      55773446..55826445
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716485.2XP_006716548.1  trimethylguanosine synthase isoform X2

      Conserved Domains (1) summary
      cl17173
      Location:691714
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...
    2. XM_017014004.1XP_016869493.1  trimethylguanosine synthase isoform X3

    Support Center