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Aliases for TGS1 Gene

Aliases for TGS1 Gene

  • Trimethylguanosine Synthase 1 2 3
  • NCOA6IP 3 4 6
  • PIMT 3 4 6
  • PRIP-Interacting Protein With Methyltransferase Motif 3 4
  • Nuclear Receptor Coactivator 6 Interacting Protein 2 3
  • Nuclear Receptor Coactivator 6-Interacting Protein 3 4
  • Hepatocellular Carcinoma-Associated Antigen 137 3 4
  • Cap-Specific Guanine-N2 Methyltransferase 3 4
  • CLL-Associated Antigen KW-2 3 4
  • PIPMT 3 4
  • PRIP-Interacting Protein With Methyltransferase Domain 3
  • Trimethylguanosine Synthase Homolog (S. Cerevisiae) 2
  • Trimethylguanosine Synthase Homolog 3
  • PRIP-Interacting Protein PIPMT 3
  • Trimethylguanosine Synthase 3
  • SEREX-Defined 3
  • EC 2.1.1.- 4
  • EC 2.1.1 63
  • HCA137 4

External Ids for TGS1 Gene

Previous Symbols for TGS1 Gene

  • NCOA6IP

Summaries for TGS1 Gene

GeneCards Summary for TGS1 Gene

TGS1 (Trimethylguanosine Synthase 1) is a Protein Coding gene. Diseases associated with TGS1 include hepatocellular carcinoma. Among its related pathways are L1CAM interactions and Metabolism. GO annotations related to this gene include RNA trimethylguanosine synthase activity.

UniProtKB/Swiss-Prot for TGS1 Gene

  • 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

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGS1 Gene

Genomics for TGS1 Gene

Genomic Location for TGS1 Gene

Start:
55,773,142 bp from pter
End:
55,825,448 bp from pter
Size:
52,307 bases
Orientation:
Plus strand

Genomic View for TGS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TGS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGS1 Gene

Regulatory Elements for TGS1 Gene

Proteins for TGS1 Gene

  • Protein details for TGS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96RS0-TGS1_HUMAN
    Recommended name:
    Trimethylguanosine synthase
    Protein Accession:
    Q96RS0
    Secondary Accessions:
    • A6NJQ5
    • Q5GH23
    • Q8TDG9
    • Q96QU3
    • Q9H5V3

    Protein attributes for TGS1 Gene

    Size:
    853 amino acids
    Molecular mass:
    96620 Da
    Quaternary structure:
    • May form homooligomers. Interacts with CREBBP/CBP, EED/WAIT1, EP300/P300, NCOA6/PRIP, PPARBP/PBP and SMN.
    SequenceCaution:
    • Sequence=AAH11999.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15516.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TGS1 Gene

neXtProt entry for TGS1 Gene

Proteomics data for TGS1 Gene at MOPED

Selected DME Specific Peptides for TGS1 Gene

Post-translational modifications for TGS1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys44 and Lys646

Other Protein References for TGS1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for TGS1 Gene

Protein Domains for TGS1 Gene

Suggested Antigen Peptide Sequences for TGS1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96RS0

UniProtKB/Swiss-Prot:

TGS1_HUMAN
Family:
  • Belongs to the methyltransferase superfamily. Trimethylguanosine synthase family.:
    • Q96RS0
genes like me logo Genes that share domains with TGS1: view

No data available for Gene Families for TGS1 Gene

Function for TGS1 Gene

Molecular function for TGS1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=30 uM for m(7)GDP {ECO:0000269 PubMed:18775984}; KM=5 uM for S-adenosyl-L-methionine {ECO:0000269 PubMed:18775984}; pH dependence: Optimum pH is 8.5-9.5. {ECO:0000269 PubMed:18775984};
UniProtKB/Swiss-Prot CatalyticActivity: S-adenosyl-L-methionine + m(7)G(5)pppR-RNA = S-adenosyl-L-homocysteine + m(2,7)G(5)pppR-RNA
UniProtKB/Swiss-Prot CatalyticActivity: S-adenosyl-L-methionine + m(2,7)G(5)pppR-RNA = S-adenosyl-L-homocysteine + m(2,2,7)G(5)pppR-RNA
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for TGS1 Gene

Gene Ontology (GO) - Molecular Function for TGS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21522132
GO:0008168 methyltransferase activity --
GO:0071164 RNA trimethylguanosine synthase activity IDA 16687569
genes like me logo Genes that share ontologies with TGS1: view

Phenotypes for TGS1 Gene

genes like me logo Genes that share phenotypes with TGS1: view

Animal Models for TGS1 Gene

MGI Knock Outs for TGS1:

miRNA for TGS1 Gene

miRTarBase miRNAs that target TGS1

No data available for Transcription Factor Targeting and HOMER Transcription for TGS1 Gene

Localization for TGS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGS1 Gene

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
Jensen Localization Image for TGS1 Gene COMPARTMENTS Subcellular localization image for TGS1 gene
Compartment Confidence
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for TGS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with TGS1: view

Pathways for TGS1 Gene

genes like me logo Genes that share pathways with TGS1: view

Pathways by source for TGS1 Gene

Gene Ontology (GO) - Biological Process for TGS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000387 spliceosomal snRNP assembly TAS --
GO:0001510 RNA methylation --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0009452 7-methylguanosine RNA capping IEA --
genes like me logo Genes that share ontologies with TGS1: view

Transcripts for TGS1 Gene

Unigene Clusters for TGS1 Gene

Trimethylguanosine synthase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TGS1 Gene

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

Relevant External Links for TGS1 Gene

GeneLoc Exon Structure for
TGS1
ECgene alternative splicing isoforms for
TGS1

Expression for TGS1 Gene

mRNA expression in normal human tissues for TGS1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TGS1 Gene

SOURCE GeneReport for Unigene cluster for TGS1 Gene Hs.335068

mRNA Expression by UniProt/SwissProt for TGS1 Gene

Q96RS0-TGS1_HUMAN
Tissue specificity: Ubiquitously expressed. High expression in heart, skeletal muscle, kidney, liver and placenta.
genes like me logo Genes that share expressions with TGS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TGS1 Gene

Orthologs for TGS1 Gene

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

Orthologs for TGS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TGS1 35
  • 98.98 (n)
  • 98.12 (a)
TGS1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TGS1 35
  • 79.13 (n)
  • 74.17 (a)
TGS1 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TGS1 35
  • 86.66 (n)
  • 82.05 (a)
TGS1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gm5117 36
  • 69 (a)
OneToMany
Tgs1 35
  • 81.98 (n)
  • 75.06 (a)
Tgs1 16
Tgs1 36
  • 73 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TGS1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGS1 36
  • 61 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tgs1 35
  • 80.23 (n)
  • 74.11 (a)
chicken
(Gallus gallus)
Aves TGS1 35
  • 62.73 (n)
  • 56.02 (a)
TGS1 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGS1 36
  • 45 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.33099 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17643 35
tgs1 35
  • 60.23 (n)
  • 50.97 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100537552 35
  • 53.34 (n)
  • 44.85 (a)
tgs1 36
  • 40 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010425 35
  • 47.93 (n)
  • 43.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta tatl 36
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T08G11.4 36
  • 32 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TGS1 36
  • 28 (a)
OneToOne
TGS1 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6425 36
  • 45 (a)
OneToOne
Species with no ortholog for TGS1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TGS1 Gene

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

Paralogs for TGS1 Gene

No data available for Paralogs for TGS1 Gene

Variants for TGS1 Gene

Sequence variations from dbSNP and Humsavar for TGS1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs896126 -- 55,789,424(-) ATGAC(C/T)GTAAA intron-variant
rs1376207 -- 55,780,241(-) agtaa(A/G)caatg intron-variant
rs1376208 -- 55,780,175(-) AAAAG(A/C/G)AAAAA intron-variant
rs1868746 -- 55,788,889(-) GAGAC(A/T)GTAAG intron-variant
rs1868747 -- 55,782,149(-) TAAAT(A/T)AAGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TGS1 Gene

Variant ID Type Subtype PubMed ID
dgv459n21 CNV Gain 19592680
nsv527341 CNV Gain 19592680
esv2422388 CNV Duplication 17116639
nsv890930 CNV Gain 21882294
nsv510148 CNV Loss 20534489
dgv889n27 CNV Gain 19166990

Relevant External Links for TGS1 Gene

HapMap Linkage Disequilibrium report
TGS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGS1 Gene

Disorders for TGS1 Gene

(1) MalaCards Diseases for TGS1 Gene

Search for TGS1 Gene in MalaCards »

Relevant External Links for TGS1

Genetic Association Database (GAD)
TGS1
Human Genome Epidemiology (HuGE) Navigator
TGS1
genes like me logo Genes that share disorders with TGS1: view

No data available for UniProtKB/Swiss-Prot for TGS1 Gene

Publications for TGS1 Gene

  1. Cloning and characterization of PIMT, a protein with a methyltransferase domain, which interacts with and enhances nuclear receptor coactivator PRIP function. (PMID: 11517327) Zhu Y.-J. … Reddy J.K. (Proc. Natl. Acad. Sci. U.S.A. 2001) 2 3 4
  2. Structure analysis of the conserved methyltransferase domain of human trimethylguanosine synthase TGS1. (PMID: 19307714) Monecke T. … Ficner R. (Acta Crystallogr. D 2009) 2 3 4
  3. Structural basis for m7G-cap hypermethylation of small nuclear, small nucleolar and telomerase RNA by the dimethyltransferase TGS1. (PMID: 19386620) Monecke T. … Ficner R. (Nucleic Acids Res. 2009) 3 4
  4. Ongoing U snRNP biogenesis is required for the integrity of Cajal bodies. (PMID: 16687569) Lemm I. … Luehrmann R. (Mol. Biol. Cell 2006) 3 4
  5. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson D.F. … Stefansson K. (Nat. Genet. 2008) 3 48

Products for TGS1 Gene

Sources for TGS1 Gene

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