TGS1: Trimethylguanosine Synthase 1
A key enzyme in RNA cap hypermethylation and snRNP biogenesis
Gene Information Card
| Symbol | TGS1 |
|---|---|
| Full Name | Trimethylguanosine Synthase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q11.23 |
| NCBI Gene ID | 96764 ncbi.nlm.nih.gov/gene/96764 |
| Ensembl ID | ENSG00000104738 |
| UniProt ID | Q96RS0 |
| OMIM ID | 606994 |
| HGNC ID | 14608 |
| Aliases | PIMT, TGS, MEP-1, NOP17 |
Description
TGS1 (trimethylguanosine synthase 1) encodes an enzyme that catalyzes the conversion of the 5' cap of small nuclear RNAs (snRNAs) from 7-methylguanosine (m7G) to 2,2,7-trimethylguanosine (m3G). This hypermethylation is essential for snRNP biogenesis, pre-mRNA splicing, and RNA processing. TGS1 is also involved in telomerase RNA maturation and has been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia | Dysregulation of snRNP biogenesis and splicing | COSMIC; PMID: 23583978 |
| Breast cancer | Overexpression linked to poor prognosis | COSMIC; PMID: 29174464 |
| Colorectal cancer | Altered expression affecting RNA processing | COSMIC; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Medium |
| Bone marrow | 7.1 | Medium |
| Brain | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 9.8 | Leukemia cell line |
| HeLa | 7.5 | Cervical cancer cell line |
| MCF7 | 6.2 | Breast cancer cell line |
| HEK293 | 5.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | 0.01% | Unknown functional impact |
| c.1465G>A (p.Glu489Lys) | Missense | 0.005% | Potential loss of catalytic activity |
| c.1742_1743del (p.Leu581fs) | Frameshift | 0.001% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated, non-functional protein.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Not reported in literature.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • RNA methyltransferase activity (GO:0008173) |
| • 7-methylguanosine RNA capping (GO:0006370) | • nucleoplasm (GO:0005654) |
| • nucleolus (GO:0005730) |
Pathways
• snRNP biogenesis (Reactome: R-HSA-191859)
• Processing of capped intron-containing pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
TGS1 is a 853-amino acid protein localized to the nucleolus and Cajal bodies. It contains a methyltransferase domain responsible for converting m7G to m3G on snRNAs. The protein interacts with components of the SMN complex and is essential for proper spliceosome assembly. Post-translational modifications include phosphorylation and sumoylation, which regulate its activity and localization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TGS1 Knockout HEK293 Cell Line | EDJ-KQ51920 | Human | 96764 | Details Get a Quote |
| TGS1 Knockout HeLa Cell Line | EDJ-KQ57892 | Human | 96764 | Details Get a Quote |
| TGS1 Knockout A-549 Cell Line | EDJ-KQ66386 | Human | 96764 | Details Get a Quote |
| TGS1 Knockout HCT 116 Cell Line | EDJ-KQ74812 | Human | 96764 | Details Get a Quote |
