GNMT (Glycine N-Methyltransferase)
A key enzyme in one-carbon metabolism with roles in liver function, cancer, and metabolic disorders.
Gene Information Card
| Symbol | GNMT |
|---|---|
| Full Name | Glycine N-Methyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 6p12.2 |
| NCBI Gene ID | 27232 ncbi.nlm.nih.gov/gene/27232 |
| Ensembl ID | ENSG00000124713 |
| UniProt ID | Q14749 |
| OMIM ID | 606628 |
| HGNC ID | 4415 |
| Aliases | PEMT, MGC14151 |
Description
The GNMT gene encodes glycine N-methyltransferase, an enzyme that catalyzes the methylation of glycine to form sarcosine using S-adenosylmethionine (SAM) as a methyl donor. This reaction regulates the SAM/S-adenosylhomocysteine ratio, thereby controlling cellular methylation potential. GNMT is highly expressed in the liver and pancreas and plays a critical role in one-carbon metabolism, detoxification, and liver homeostasis. Loss of GNMT function is associated with hepatocellular carcinoma and metabolic disturbances.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Loss of GNMT expression leads to altered methylation patterns and increased proliferation | PMID: 17934469, 19029908 |
| Liver cirrhosis | GNMT deficiency promotes fibrosis and steatosis in mouse models | PMID: 19029908 |
| Methionine adenosyltransferase deficiency | Secondary metabolic dysregulation due to impaired SAM metabolism | PMID: 11468268 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 124.3 | High |
| Pancreas | 45.6 | Medium |
| Kidney | 12.1 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 98.5 | Hepatocellular carcinoma cell line |
| HEK293 | 15.2 | Embryonic kidney cells |
| HeLa | 3.1 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.457C>T (p.Arg153Cys) | Missense | <0.01% | Reduced enzyme activity |
| c.766G>A (p.Gly256Ser) | Missense | <0.01% | Impaired SAM binding |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg153Cys) reduce catalytic activity, leading to elevated SAM levels and altered methylation.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • methyltransferase activity (GO:0008168) | • cytoplasm (GO:0005737) |
| • cytosol (GO:0005829) | • one-carbon metabolic process (GO:0006730) |
| • methionine metabolic process (GO:0006555) |
Pathways
• Glycine
• serine and threonine metabolism (KEGG: hsa00260)
• Cysteine and methionine metabolism (KEGG: hsa00270)
• One-carbon metabolism (Reactome: R-HSA-156902)
Protein Summary
Glycine N-methyltransferase (GNMT) is a homotetrameric cytosolic enzyme that catalyzes the transfer of a methyl group from SAM to glycine, producing sarcosine and SAH. It is a key regulator of the SAM/SAH ratio and thus influences global methylation reactions. GNMT is predominantly expressed in the liver and pancreas, and its loss is implicated in hepatocarcinogenesis. The protein also binds to folate and may have roles in detoxification.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GNMT Knockout HEK293 Cell Line | EDJ-KQ8723 | Human | 27232 | Details Get a Quote |
| GNMT Knockout HeLa Cell Line | EDJ-KQ56036 | Human | 27232 | Details Get a Quote |
| GNMT Knockout A-549 Cell Line | EDJ-KQ64523 | Human | 27232 | Details Get a Quote |
| GNMT Knockout HCT 116 Cell Line | EDJ-KQ72981 | Human | 27232 | Details Get a Quote |
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