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Aliases for TGS1 Gene

Aliases for TGS1 Gene

  • Trimethylguanosine Synthase 1 2 3 5
  • 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
  • NCOA6IP 3 4
  • PIPMT 3 4
  • PIMT 3 4
  • Trimethylguanosine Synthase Homolog (S. Cerevisiae) 2
  • EC 2.1.1.- 4
  • EC 2.1.1 63
  • HCA137 4

External Ids for TGS1 Gene

Previous HGNC Symbols for TGS1 Gene

  • NCOA6IP

Previous GeneCards Identifiers for TGS1 Gene

  • GC08P056849
  • GC08P056685
  • GC08P052154

Summaries for TGS1 Gene

GeneCards Summary for TGS1 Gene

TGS1 (Trimethylguanosine Synthase 1) is a Protein Coding gene. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Gene Expression. GO annotations related to this gene include methyltransferase activity and 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

Regulatory Elements for TGS1 Gene

Enhancers for TGS1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TGS1 on UCSC Golden Path with GeneCards custom track

Promoters for TGS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TGS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TGS1 Gene

Chromosome:
8
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

Genes around TGS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TGS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 44 and Lys 646
  • Modification sites at PhosphoSitePlus

Other Protein References for TGS1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families 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 :
  • Belongs to the methyltransferase superfamily. Trimethylguanosine synthase family.
Family:
  • Belongs to the methyltransferase superfamily. Trimethylguanosine synthase family.
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:0008168 methyltransferase activity IEA --
GO:0071164 RNA trimethylguanosine synthase activity IDA 16687569
genes like me logo Genes that share ontologies with TGS1: view
genes like me logo Genes that share phenotypes with TGS1: view

Animal Models for TGS1 Gene

MGI Knock Outs for TGS1:

Animal Model Products

miRNA for TGS1 Gene

miRTarBase miRNAs that target TGS1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TGS1 Gene

Localization for TGS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGS1 Gene

Cytoplasm. Nucleus, Cajal body. Nucleus, nucleolus. 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. {ECO:0000269 PubMed:12943661}.

Subcellular locations from

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

Gene Ontology (GO) - Cellular Components for TGS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IEA --
genes like me logo Genes that share ontologies with TGS1: view

Pathways & Interactions for TGS1 Gene

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

Gene Ontology (GO) - Biological Process for TGS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0009452 7-methylguanosine RNA capping IEA --
GO:0071167 ribonucleoprotein complex import into nucleus IC 16687569
genes like me logo Genes that share ontologies with TGS1: view

No data available for SIGNOR curated interactions for TGS1 Gene

Drugs & Compounds for TGS1 Gene

(2) Drugs for TGS1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 0
s-adenosylhomocysteine Experimental Pharma 0
genes like me logo Genes that share compounds 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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TGS1 Gene

This gene is overexpressed in Lung (54.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with TGS1: view

Protein tissue co-expression partners for TGS1 Gene

- Elite partner

Primer Products

No data available for 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
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 Tgs1 35
  • 81.98 (n)
  • 75.06 (a)
Tgs1 16
Gm5117 36
  • 69 (a)
OneToMany
Tgs1 36
  • 73 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia TGS1 35
  • 98.98 (n)
  • 98.12 (a)
TGS1 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tgs1 35
  • 80.23 (n)
  • 74.11 (a)
oppossum
(Monodelphis domestica)
Mammalia TGS1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGS1 36
  • 61 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.17643 35
tgs1 35
  • 60.23 (n)
  • 50.97 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.33099 35
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
VAR_024734 -
rs3213971 - 55,786,376(-) TTCAA(C/G/T)TGAAG reference, missense
rs10100659 - 55,796,142(+) CAAAA(C/T)TCTGA reference, missense
rs16922259 - 55,799,097(+) AGAGC(A/G)TATCT reference, missense
rs7823773 - 55,810,998(+) TTCTT(A/G/T)TTTAA intron-variant, reference, missense

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

Variation tolerance for TGS1 Gene

Residual Variation Intolerance Score: 94.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.57; 82.51% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TGS1 Gene

Disorders for TGS1 Gene

Relevant External Links for TGS1

Genetic Association Database (GAD)
TGS1
Human Genome Epidemiology (HuGE) Navigator
TGS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TGS1

No disorders were found for TGS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TGS1 Gene

Publications for TGS1 Gene

  1. 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 67
  2. Hypermethylation of the cap structure of both yeast snRNAs and snoRNAs requires a conserved methyltransferase that is localized to the nucleolus. (PMID: 11983179) Mouaikel J. … BordonnAc R. (Mol. Cell 2002) 2 3
  3. 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. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3

Products for TGS1 Gene

Sources for TGS1 Gene

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