GNMT
Summary: The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene are a cause of GNMT deficiency (hypermethioninemia). Alternative splicing results in multiple transcript variants. Naturally occurring readthrough transcription occurs between the upstream CNPY3 (canopy FGF signaling regulator 3) gene and this gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
glycine N-methyltransferase | MIM:606628 | Ensembl:ENSG00000124713 | HGNC:HGNC:4415 | PA28794 | 6p21.1 |
GO terms in GNMT
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | IDA | GO:0005829 | cytosol |
CC | TAS | GO:0005829 | cytosol |
BP | IEA | GO:0005977 | glycogen metabolic process |
BP | IEA | GO:0006111 | regulation of gluconeogenesis |
BP | NAS | GO:0006464 | cellular protein modification process |
BP | IEA | GO:0006555 | methionine metabolic process |
BP | IEA | GO:0006730 | one-carbon metabolic process |
BP | IEA | GO:0032259 | methylation |
BP | TAS | GO:0034641 | cellular nitrogen compound metabolic process |
BP | IDA | GO:0046500 | S-adenosylmethionine metabolic process |
BP | IPI | GO:0051289 | protein homotetramerization |
MF | IPI | GO:0005515 | protein binding |
MF | IEA | GO:0005542 | folic acid binding |
MF | IDA | GO:0016594 | glycine binding |
MF | IDA | GO:0017174 | glycine N-methyltransferase activity |
MF | TAS | GO:0017174 | glycine N-methyltransferase activity |
MF | IPI | GO:0042802 | identical protein binding |
Gene expression in normal tissue: GNMT
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GNMT
Database | Pathway ID | Pathway Des. |
---|---|---|
wikipathways | WP3940 | One carbon metabolism and related pathways |
smpdb | SMP00004 | Glycine and Serine Metabolism |
smpdb | SMP00179 | Dihydropyrimidine Dehydrogenase Deficiency (DHPD) |
smpdb | SMP00223 | Non Ketotic Hyperglycinemia |
smpdb | SMP00242 | Dimethylglycine Dehydrogenase Deficiency |
smpdb | SMP00244 | Sarcosinemia |
smpdb | SMP00484 | Dimethylglycine Dehydrogenase Deficiency |
smpdb | SMP00485 | Hyperglycinemia, non-ketotic |
smpdb | SMP00721 | 3-Phosphoglycerate dehydrogenase deficiency |
smpdb | SMP02313 | sarcosine oncometabolite pathway |
kegg | hsa00260 | Glycine, serine and threonine metabolism - Homo sapiens (human) |
reactome | R-HSA-1430728 | Metabolism |
reactome | R-HSA-1430728 | Metabolism |
reactome | R-HSA-2408508 | Metabolism of ingested SeMet, Sec, MeSec into H2Se |
reactome | R-HSA-2408522 | Selenoamino acid metabolism |
reactome | R-HSA-389661 | Glyoxylate metabolism and glycine degradation |
reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GNMT