AMT
Summary: This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| aminomethyltransferase | MIM:238310 | Ensembl:ENSG00000145020 | HGNC:HGNC:473 | PA24780 | 3p21.31 |
GO terms in AMT
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0004047 | aminomethyltransferase activity |
| MF | IMP | GO:0004047 | aminomethyltransferase activity |
| MF | TAS | GO:0004047 | aminomethyltransferase activity |
| MF | IEA | GO:0008483 | transaminase activity |
| BP | TAS | GO:0006546 | glycine catabolic process |
| BP | IBA | GO:0019464 | glycine decarboxylation via glycine cleavage system |
| BP | IMP | GO:0019464 | glycine decarboxylation via glycine cleavage system |
| BP | IEA | GO:0032259 | methylation |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IBA | GO:0005739 | mitochondrion |
| CC | IC | GO:0005739 | mitochondrion |
| CC | IDA | GO:0005739 | mitochondrion |
| CC | TAS | GO:0005759 | mitochondrial matrix |
Gene expression in normal tissue: AMT
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AMT
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-389661 | Glyoxylate metabolism and glycine degradation |
| reactome | R-HSA-6783984 | Glycine degradation |
| reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
| smpdb | SMP00004 | Glycine and Serine Metabolism |
| smpdb | SMP00009 | Ammonia Recycling |
| 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 |
| wikipathways | WP241 | One Carbon Metabolism |
| wikipathways | WP2525 | Trans-sulfuration and one carbon metabolism |
| humancyc | GLYCLEAV-PWY | glycine cleavage |
| kegg | hsa00260 | Glycine, serine and threonine metabolism - Homo sapiens (human) |
| kegg | hsa00630 | Glyoxylate and dicarboxylate metabolism - Homo sapiens (human) |
| kegg | hsa00670 | One carbon pool by folate - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AMT
CLASSFICATION
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