TGS1 (trimethylguanosine synthase 1)

2011-06-01 Affiliation

Identity

HGNC

TGS1

LOCATION

8q12.1

LOCUSID

96764

ALIAS

NCOA6IP,PIMT,PIPMT

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 96764
MIM: 606461
HGNC: 17843
Ensembl: ENSG00000137574

Variants:

dbSNP: 96764
ClinVar: 96764
TCGA: ENSG00000137574
COSMIC: TGS1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000137574	ENST00000260129	Q96RS0
ENSG00000137574	ENST00000523948	E5RJW7

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
RNA transport	KEGG	ko03013
RNA transport	KEGG	hsa03013
Organelle biogenesis and maintenance	REACTOME	R-HSA-1852241
Mitochondrial biogenesis	REACTOME	R-HSA-1592230
Transcriptional activation of mitochondrial biogenesis	REACTOME	R-HSA-2151201
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
YAP1- and WWTR1 (TAZ)-stimulated gene expression	REACTOME	R-HSA-2032785
Metabolism of non-coding RNA	REACTOME	R-HSA-194441
snRNP Assembly	REACTOME	R-HSA-191859
Circadian Clock	REACTOME	R-HSA-400253
BMAL1:CLOCK,NPAS2 activates circadian gene expression	REACTOME	R-HSA-1368108
RORA activates gene expression	REACTOME	R-HSA-1368082
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	REACTOME	R-HSA-400206
PPARA activates gene expression	REACTOME	R-HSA-1989781
Regulation of cholesterol biosynthesis by SREBP (SREBF)	REACTOME	R-HSA-1655829
Activation of gene expression by SREBF (SREBP)	REACTOME	R-HSA-2426168
Developmental Biology	REACTOME	R-HSA-1266738
Transcriptional regulation of white adipocyte differentiation	REACTOME	R-HSA-381340

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
18775984	2008	Genetic and biochemical analysis of yeast and human cap trimethylguanosine synthase: functional overlap of 2,2,7-trimethylguanosine caps, small nuclear ribonucleoprotein components, pre-mRNA splicing factors, and RNA decay pathways.	38
11912212	2002	Interaction of PIMT with transcriptional coactivators CBP, p300, and PBP differential role in transcriptional regulation.	28
18660489	2008	Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.	26
18039666	2008	Characterization of a short isoform of human Tgs1 hypermethylase associating with small nucleolar ribonucleoprotein core proteins and produced by limited proteolytic processing.	21
19386620	2009	Structural basis for m7G-cap hypermethylation of small nuclear, small nucleolar and telomerase RNA by the dimethyltransferase TGS1.	20
21204776	2011	Damaged proteins bearing L-isoaspartyl residues and aging: a dynamic equilibrium between generation of isomerized forms and repair by PIMT.	20
20546612	2010	The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.	19
20360394	2010	Mutational analyses of trimethylguanosine synthase (Tgs1) and Mud2: proteins implicated in pre-mRNA splicing.	16
12943661	2003	Different isoforms of PRIP-interacting protein with methyltransferase domain/trimethylguanosine synthase localizes to the cytoplasm and nucleus.	9

Citation

Dessen P

TGS1 (trimethylguanosine synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2011-06-01

Online version: http://atlasgeneticsoncology.org/gene/52236/tgs1