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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 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
  • Nuclear Receptor Coactivator 6 Interacting Protein 2
  • Trimethylguanosine Synthase 3
  • EC 2.1.1.- 4
  • EC 2.1.1 61
  • 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 Mitochondrial Gene Expression and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). 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 , CIViC 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G055846 1.5 Ensembl ENCODE dbSUPER 27.2 +74.8 74784 2.1 HDGF PKNOX1 ATF1 CREB3L1 ARNT TCF12 GTF3C2 ZNF766 ELK1 GATA2 TGS1 LYN RNA5SP265 TMEM68 PENK GC08P055855
GH08G055771 1.1 ENCODE 27.9 +0.2 228 4.0 HDGF HNRNPUL1 PKNOX1 ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 TGS1 TMEM68 LYN RPS20
GH08G056072 1.2 ENCODE 21.6 +301.0 300979 2.7 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 TGS1 RPS20 PSMC6P1 PIR49149 GC08M056076 GC08M056075 SNORD54 GC08M056077
GH08G055987 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.9 +218.2 218202 7.1 HDGF PKNOX1 FOXA2 WRNIP1 SIN3A ZNF207 FOS JUNB TBX21 ZNF592 LYN TMEM68 TGS1 RPS20 PSMC6P1 GC08P056003 RN7SL798P
GH08G056004 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +233.1 233091 3.0 HDGF CTCF CBX3 NFXL1 ZNF316 POLR2A NR2F6 IKZF2 MAFK ZNF263 LYN TMEM68 TGS1 RPS20 GC08P056003 RN7SL323P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000224690 58 3201 HNRNPUL1 PKNOX1 MLX ARNT CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2

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

Selected DME Specific Peptides for TGS1 Gene

Q96RS0:
  • GGNTIQFA
  • WFSVTPE

Post-translational modifications for TGS1 Gene

  • Ubiquitination at posLast=4444 and isoforms=646
  • Modification sites at PhosphoSitePlus

Other Protein References for TGS1 Gene

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

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 IEA --
GO:0008173 RNA methyltransferase activity TAS --
GO:0016740 transferase 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

Inhibitory RNA Products

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TGS1 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5

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 12943661
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IDA 12943661
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:0000387 spliceosomal snRNP assembly TAS --
GO:0001510 RNA methylation IEA --
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

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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TGS1 Gene



Protein tissue co-expression partners for TGS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TGS1 Gene:

TGS1

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.

Evidence on tissue expression from TISSUES for TGS1 Gene

  • Liver(4.3)
genes like me logo Genes that share expression patterns with TGS1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 98.98 (n)
dog
(Canis familiaris)
Mammalia TGS1 34 35
  • 86.66 (n)
mouse
(Mus musculus)
Mammalia Tgs1 34 16 35
  • 81.98 (n)
Gm5117 35
  • 69 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tgs1 34
  • 80.23 (n)
cow
(Bos Taurus)
Mammalia TGS1 34 35
  • 79.13 (n)
oppossum
(Monodelphis domestica)
Mammalia TGS1 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGS1 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGS1 34 35
  • 62.73 (n)
lizard
(Anolis carolinensis)
Reptilia TGS1 35
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgs1 34
  • 60.23 (n)
Str.17643 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.33099 34
zebrafish
(Danio rerio)
Actinopterygii LOC100537552 34
  • 53.34 (n)
tgs1 35
  • 40 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010425 34
  • 47.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta tatl 35
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T08G11.4 35
  • 32 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TGS1 35 37
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6425 35
  • 45 (a)
OneToOne
Species where no ortholog for TGS1 was found in the sources mined by GeneCards:
  • 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
rs1000022639 -- 55,778,109(+) TCTAC(A/T)AAAAA intron-variant
rs1000122013 -- 55,779,165(+) AACTC(A/T)AAGAC intron-variant
rs1000156856 -- 55,774,536(+) CTTGT(A/T)AAATT intron-variant, upstream-variant-2KB
rs1000189121 -- 55,790,989(+) CTCTC(A/T)CCAGT intron-variant
rs1000192898 -- 55,780,593(+) ATTCC(A/G)GTGTT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv12173n54 CNV gain 21841781
dgv459n21 CNV gain 19592680
dgv7228n100 CNV gain 25217958
dgv889n27 CNV gain 19166990
esv2422388 CNV duplication 17116639
esv3617283 CNV gain 21293372
nsv510148 OTHER sequence alteration 20534489
nsv527341 CNV gain 19592680
nsv611392 CNV gain 21841781
nsv611393 CNV gain 21841781

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)

Relevant External Links for TGS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 64
  2. 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 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J. … Grant S.F. (BMC Med. Genet. 2010) 3 46 64
  5. 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 64

Products for TGS1 Gene

Sources for TGS1 Gene

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