TGS1 trimethylguanosine synthase 1 [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:17843
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
Summary: Enables RNA cap trimethylguanosine synthase activity. Involved in 7-methylguanosine cap hypermethylation. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in lymph node (RPKM 6.7), appendix (RPKM 5.1) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 8q12.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (55773446..55826445)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (56150498..56203496)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (56686005..56739004)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

Project title: HPA RNA-seq normal tissues 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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TGS1/PIMT knockdown reduces lipid accumulation in adipocytes, limits body weight gain and promotes insulin sensitivity in mice.
Title: TGS1/PIMT knockdown reduces lipid accumulation in adipocytes, limits body weight gain and promotes insulin sensitivity in mice.
TGS1 impacts snRNA 3'-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration.
Title: TGS1 impacts snRNA 3'-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration.
Loss of Human TGS1 Hypermethylase Promotes Increased Telomerase RNA and Telomere Elongation.
Title: Loss of Human TGS1 Hypermethylase Promotes Increased Telomerase RNA and Telomere Elongation.
Data highlight the importance of the catalytic activity of PIMT to mediate VEGF effects during endothelial cell migration and tube formation in angiogenesis.
Title: The enzyme L-isoaspartyl (D-aspartyl) methyltransferase is required for VEGF-dependent endothelial cell migration and tubulogenesis.
Self-association of Tgs1p and its catalytic activity were prerequisite to bypass the requirement for its accessory factor Swm2p for efficient pre-rRNA processing and snRNA trimethylation.
Title: Self-association of Trimethylguanosine Synthase Tgs1 is required for efficient snRNA/snoRNA trimethylation and pre-rRNA processing.
PIMT was identified as a key player responsible for glycated low density lipoproteins induced vascular endothelial cell apoptosis.
Title: PIMT prevents the apoptosis of endothelial cells in response to glycated low density lipoproteins and protective effects of grape seed procyanidin B2.
isoforms of the PIMT/Tgs1 protein with an RNA methyltransferase domain function both in the nucleus and in the cytoplasm
Title: Different isoforms of PRIP-interacting protein with methyltransferase domain/trimethylguanosine synthase localizes to the cytoplasm and nucleus.
The protein L-isoaspartyl (D-aspartyl) methyltransferase (PIMT) is an enzyme that recognizes and repairs the abnormal L-isoaspartyl residues in proteins.
Title: Damaged proteins bearing L-isoaspartyl residues and aging: a dynamic equilibrium between generation of isomerized forms and repair by PIMT.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
The structure-function data highlight a strictly essential pi-cation interaction between Trp766 and the m(7)G base and a network of important enzymic contacts to the cap triphosphate via Lys646, Tyr771, Arg807, and Lys836.
Title: Mutational analyses of trimethylguanosine synthase (Tgs1) and Mud2: proteins implicated in pre-mRNA splicing.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

SHGC-84146 (e-PCR)
- UniSTS:104666

RH47106 (e-PCR)
- UniSTS:72164

RH48281 (e-PCR)
- UniSTS:72166

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA cap trimethylguanosine synthase activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA cap trimethylguanosine synthase activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA methyltransferase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in 7-methylguanosine cap hypermethylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in 7-methylguanosine cap hypermethylation	IDA Inferred from Direct Assay more info	PubMed
involved_in ribonucleoprotein complex biogenesis	IC Inferred by Curator more info	PubMed
involved_in spliceosomal snRNP assembly	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in Cajal body	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of small nuclear ribonucleoprotein complex	IC Inferred by Curator more info	PubMed

General protein information

Go to the top of the page Help

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

EC 2.1.1.-

NP_001350113.1

EC 2.1.1.-

NP_079107.6

EC 2.1.1.-

XP_006716548.1

EC 2.1.1.-

XP_016869493.1

EC 2.1.1.-

XP_054217538.1

EC 2.1.1.-

XP_054217539.1

EC 2.1.1.-

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

NM_001317902.2 → NP_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:598 → 621

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). ...
NM_001363184.2 → NP_001350113.1 trimethylguanosine synthase isoform 3

Status: VALIDATED

Source sequence(s)

AC018607, AF286340, AF432215, BM853546, DA456243, DB082992

UniProtKB/TrEMBL

B2RBJ7

Conserved Domains (1) summary

pfam09445
Location:598 → 750

Methyltransf_15; RNA cap guanine-N2 methyltransferase
NM_024831.8 → NP_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

A6NJQ5, Q5GH23, Q8TDG9, Q96QU3, Q96RS0, Q9H5V3

UniProtKB/TrEMBL

B2RBJ7

Related

ENSP00000260129.5, ENST00000260129.6

Conserved Domains (1) summary

pfam09445
Location:691 → 843

Methyltransf_15; RNA cap guanine-N2 methyltransferase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

55773446..55826445

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006716485.3 → XP_006716548.1 trimethylguanosine synthase isoform X1

UniProtKB/TrEMBL

B2RBJ7

Conserved Domains (1) summary

cl17173
Location:691 → 714

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). ...
XM_017014004.2 → XP_016869493.1 trimethylguanosine synthase isoform X2

UniProtKB/TrEMBL

B2RBJ7