Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	96764
Gene name	Trimethylguanosine synthase 1
Gene symbol	TGS1
Synonyms (NCBI Gene)	NCOA6IPPIMTPIPMT
Chromosome	8
Chromosome location	8q12.1

140

Show/Hide all (140)

miRTarBase ID	miRNA	Experiments	Reference
MIRT047774	hsa-miR-139-5p	CLASH	23622248
MIRT1422216	hsa-miR-2964a-5p	CLIP-seq
MIRT1422217	hsa-miR-3074-3p	CLIP-seq
MIRT1422218	hsa-miR-3132	CLIP-seq
MIRT1422219	hsa-miR-3156-5p	CLIP-seq
MIRT1422220	hsa-miR-340	CLIP-seq
MIRT1422221	hsa-miR-3609	CLIP-seq
MIRT1422222	hsa-miR-3613-3p	CLIP-seq
MIRT1422223	hsa-miR-3617	CLIP-seq
MIRT1422224	hsa-miR-3688-3p	CLIP-seq
MIRT1422225	hsa-miR-371-5p	CLIP-seq
MIRT1422226	hsa-miR-371b-5p	CLIP-seq
MIRT1422227	hsa-miR-4272	CLIP-seq
MIRT1422228	hsa-miR-4276	CLIP-seq
MIRT1422229	hsa-miR-4421	CLIP-seq
MIRT1422230	hsa-miR-4509	CLIP-seq
MIRT1422231	hsa-miR-4650-3p	CLIP-seq
MIRT1422232	hsa-miR-4695-3p	CLIP-seq
MIRT1422233	hsa-miR-4744	CLIP-seq
MIRT1422234	hsa-miR-520d-5p	CLIP-seq
MIRT1422235	hsa-miR-524-5p	CLIP-seq
MIRT1422236	hsa-miR-548ah	CLIP-seq
MIRT1422237	hsa-miR-548n	CLIP-seq
MIRT1422238	hsa-miR-548t	CLIP-seq
MIRT1422239	hsa-miR-590-3p	CLIP-seq
MIRT1422240	hsa-miR-641	CLIP-seq
MIRT1422241	hsa-miR-7	CLIP-seq
MIRT1422242	hsa-miR-944	CLIP-seq
MIRT2126700	hsa-miR-2110	CLIP-seq
MIRT1422216	hsa-miR-2964a-5p	CLIP-seq
MIRT2126701	hsa-miR-3150a-3p	CLIP-seq
MIRT2126702	hsa-miR-3175	CLIP-seq
MIRT2126703	hsa-miR-338-3p	CLIP-seq
MIRT2126704	hsa-miR-3614-5p	CLIP-seq
MIRT1422224	hsa-miR-3688-3p	CLIP-seq
MIRT2126705	hsa-miR-4530	CLIP-seq
MIRT1422237	hsa-miR-548n	CLIP-seq
MIRT1422238	hsa-miR-548t	CLIP-seq
MIRT1422239	hsa-miR-590-3p	CLIP-seq
MIRT2126706	hsa-miR-939	CLIP-seq
MIRT2126700	hsa-miR-2110	CLIP-seq
MIRT2126701	hsa-miR-3150a-3p	CLIP-seq
MIRT2348516	hsa-miR-3150b-3p	CLIP-seq
MIRT2126702	hsa-miR-3175	CLIP-seq
MIRT2126703	hsa-miR-338-3p	CLIP-seq
MIRT2126704	hsa-miR-3614-5p	CLIP-seq
MIRT2348517	hsa-miR-4323	CLIP-seq
MIRT2348518	hsa-miR-4329	CLIP-seq
MIRT2348519	hsa-miR-4486	CLIP-seq
MIRT2348520	hsa-miR-4499	CLIP-seq
MIRT2126705	hsa-miR-4530	CLIP-seq
MIRT2348521	hsa-miR-4689	CLIP-seq
MIRT2348522	hsa-miR-4784	CLIP-seq
MIRT2348523	hsa-miR-4793-3p	CLIP-seq
MIRT2348524	hsa-miR-508-5p	CLIP-seq
MIRT1422237	hsa-miR-548n	CLIP-seq
MIRT1422238	hsa-miR-548t	CLIP-seq
MIRT2348525	hsa-miR-661	CLIP-seq
MIRT2348526	hsa-miR-766	CLIP-seq
MIRT2126706	hsa-miR-939	CLIP-seq
MIRT2461388	hsa-miR-1226	CLIP-seq
MIRT2461389	hsa-miR-1285	CLIP-seq
MIRT2126700	hsa-miR-2110	CLIP-seq
MIRT2126701	hsa-miR-3150a-3p	CLIP-seq
MIRT2126702	hsa-miR-3175	CLIP-seq
MIRT2461390	hsa-miR-3187-5p	CLIP-seq
MIRT2126703	hsa-miR-338-3p	CLIP-seq
MIRT2126704	hsa-miR-3614-5p	CLIP-seq
MIRT2461391	hsa-miR-3649	CLIP-seq
MIRT2126705	hsa-miR-4530	CLIP-seq
MIRT2461392	hsa-miR-4648	CLIP-seq
MIRT2461393	hsa-miR-541	CLIP-seq
MIRT2461394	hsa-miR-612	CLIP-seq
MIRT2461395	hsa-miR-654-5p	CLIP-seq
MIRT2348525	hsa-miR-661	CLIP-seq
MIRT2126706	hsa-miR-939	CLIP-seq
MIRT2641498	hsa-miR-1273e	CLIP-seq
MIRT2641499	hsa-miR-1283	CLIP-seq
MIRT2641500	hsa-miR-183	CLIP-seq
MIRT2641501	hsa-miR-2681	CLIP-seq
MIRT2641502	hsa-miR-3149	CLIP-seq
MIRT2641503	hsa-miR-3160-3p	CLIP-seq
MIRT2641504	hsa-miR-3545-3p	CLIP-seq
MIRT1422221	hsa-miR-3609	CLIP-seq
MIRT1422222	hsa-miR-3613-3p	CLIP-seq
MIRT2461391	hsa-miR-3649	CLIP-seq
MIRT1422225	hsa-miR-371-5p	CLIP-seq
MIRT1422226	hsa-miR-371b-5p	CLIP-seq
MIRT2641505	hsa-miR-3929	CLIP-seq
MIRT2641506	hsa-miR-4419b	CLIP-seq
MIRT1422229	hsa-miR-4421	CLIP-seq
MIRT2641507	hsa-miR-4478	CLIP-seq
MIRT2348519	hsa-miR-4486	CLIP-seq
MIRT2641508	hsa-miR-4487	CLIP-seq
MIRT2641509	hsa-miR-4679	CLIP-seq
MIRT2641510	hsa-miR-4680-5p	CLIP-seq
MIRT2641511	hsa-miR-4684-5p	CLIP-seq
MIRT2641512	hsa-miR-4775	CLIP-seq
MIRT2348523	hsa-miR-4793-3p	CLIP-seq
MIRT2348524	hsa-miR-508-5p	CLIP-seq
MIRT1422234	hsa-miR-520d-5p	CLIP-seq
MIRT1422235	hsa-miR-524-5p	CLIP-seq
MIRT1422236	hsa-miR-548ah	CLIP-seq
MIRT1422237	hsa-miR-548n	CLIP-seq
MIRT1422238	hsa-miR-548t	CLIP-seq
MIRT2641513	hsa-miR-558	CLIP-seq
MIRT1422239	hsa-miR-590-3p	CLIP-seq
MIRT2641514	hsa-miR-656	CLIP-seq
MIRT2348525	hsa-miR-661	CLIP-seq
MIRT2348526	hsa-miR-766	CLIP-seq
MIRT2641498	hsa-miR-1273e	CLIP-seq
MIRT2641499	hsa-miR-1283	CLIP-seq
MIRT2641500	hsa-miR-183	CLIP-seq
MIRT2641501	hsa-miR-2681	CLIP-seq
MIRT2641503	hsa-miR-3160-3p	CLIP-seq
MIRT2641504	hsa-miR-3545-3p	CLIP-seq
MIRT1422221	hsa-miR-3609	CLIP-seq
MIRT1422222	hsa-miR-3613-3p	CLIP-seq
MIRT2461391	hsa-miR-3649	CLIP-seq
MIRT1422225	hsa-miR-371-5p	CLIP-seq
MIRT1422226	hsa-miR-371b-5p	CLIP-seq
MIRT2641505	hsa-miR-3929	CLIP-seq
MIRT2641506	hsa-miR-4419b	CLIP-seq
MIRT1422229	hsa-miR-4421	CLIP-seq
MIRT2641507	hsa-miR-4478	CLIP-seq
MIRT2348519	hsa-miR-4486	CLIP-seq
MIRT2641508	hsa-miR-4487	CLIP-seq
MIRT2641509	hsa-miR-4679	CLIP-seq
MIRT2641510	hsa-miR-4680-5p	CLIP-seq
MIRT2641511	hsa-miR-4684-5p	CLIP-seq
MIRT2348523	hsa-miR-4793-3p	CLIP-seq
MIRT2348524	hsa-miR-508-5p	CLIP-seq
MIRT1422234	hsa-miR-520d-5p	CLIP-seq
MIRT1422235	hsa-miR-524-5p	CLIP-seq
MIRT1422236	hsa-miR-548ah	CLIP-seq
MIRT1422237	hsa-miR-548n	CLIP-seq
MIRT1422238	hsa-miR-548t	CLIP-seq
MIRT2641513	hsa-miR-558	CLIP-seq
MIRT2348525	hsa-miR-661	CLIP-seq
MIRT2348526	hsa-miR-766	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000387	Process	Spliceosomal snRNP assembly	TAS
GO:0001510	Process	RNA methylation	IEA
GO:0005515	Function	Protein binding	IPI	21522132, 28514442, 32296183, 33961781, 35271311
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12943661
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	12943661
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008173	Function	RNA methyltransferase activity	TAS
GO:0015030	Component	Cajal body	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0022613	Process	Ribonucleoprotein complex biogenesis	IC	16687569
GO:0030532	Component	Small nuclear ribonucleoprotein complex	IC	16687569
GO:0032259	Process	Methylation	IEA
GO:0036261	Process	7-methylguanosine cap hypermethylation	IBA
GO:0036261	Process	7-methylguanosine cap hypermethylation	IDA	16687569
GO:0036261	Process	7-methylguanosine cap hypermethylation	IEA
GO:0071164	Function	RNA cap trimethylguanosine synthase activity	IBA
GO:0071164	Function	RNA cap trimethylguanosine synthase activity	IDA	16687569
GO:0071164	Function	RNA cap trimethylguanosine synthase activity	IEA

MIM	HGNC	e!Ensembl
606461	17843	ENSG00000137574

Q96RS0

Protein name

Trimethylguanosine synthase (EC 2.1.1.-) (CLL-associated antigen KW-2) (Cap-specific guanine-N(2) methyltransferase) (Hepatocellular carcinoma-associated antigen 137) (Nuclear receptor coactivator 6-interacting protein) (PRIP-interacting protein with meth

Protein 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 prec

PDB

3EGI , 3GDH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF09445	Methyltransf_15	691 → 845	RNA cap guanine-N2 methyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. High expression in heart, skeletal muscle, kidney, liver and placenta. {ECO:0000269|PubMed:11517327}.

Sequence

MCCEKWSRVAEMFLFIEEREDCKILCLCSRAFVEDRKLYNLGLKGYYIRDSGNNSGDQAT
EEEEGGYSCGTAESHDSKGIGLDESELDSEAELMRSMGLPLQFGRITAHKDFEVSMNTRN
KVKIKKKKHQKKYLDEIVQESWRKEYEEDDILASDDPSSIEQYENTRTYELQSKKDTETE
NPPVENTLSPKLEITEKWEKYWNEYGGGLLWQSWQEKHPGQALSSEPWNFPDTKEEWEQH
YSQLYWYYLEQFQYWEAQGWTFDASQSCDTDTYTSKTEADDKNDEKCMKVDLVSFPSSPI
MVDNDSSGTSDKDHSEILDGISNIKLNSEEVTQSQLDSCTSHDGHQQLSEVSSKRECPAS
GQSEPRNGGTNEESNSSGNTNTDPPAEDSQKSSGANTSKDRPHASGTDGDESEEDPPEHK
PSKLKRSHELDIDENPASDFDDSGSLLGFKYGSGQKYGGIPNFSHRQVRYLEKNVKLKSK
YLDMRRQIKMKNKHIFFTKESEKPFFKKSKILSKVEKFLTWVNKPMDEEASQESSSHDNV
HDASTSSDSEEQDMSVKKGDDLLETNNPEPEKCQSVSSAGELETENYERDSLLATVPDEQ
DCVTQEVPDSRQAETEAEVKKKKNKKKNKKVNGLPPEIAAVPELAKYWAQRYRLFSRFDD
GIKLDREGWFSVTPEKIAEHIAGRVSQSFKCDVVVDAFCGVGGNTIQFALTGMRVIAIDI
DPVKIALARNNAEVYGIADKIEFICGDFLLLASFLKADVVFLSPPWGGPDYATAETFDIR
TMMSPDGFEIFRLSKKITNNIVYFLPRNADIDQVASLAGPGGQVEIEQNFLNNKLKTITA
YFGDLIRRPASET

Sequence length

853

Interactions

View interactions

	Reactome
			RORA activates gene expression snRNP Assembly PPARA activates gene expression Transcriptional activation of mitochondrial biogenesis Activation of gene expression by SREBF (SREBP) Transcriptional regulation of white adipocyte differentiation Regulation of lipid metabolism by PPARalpha Circadian Clock

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

TGS1 (trimethylguanosine synthase 1)