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Details on Person UniProt:Q14353-1 GAMT
| Class:Id | ReferenceIsoform:8977423 |
|---|---|
| _chainChangeLog | initiator methionine:1 added on Fri February 17 2017;chain:2-236 added on Fri February 17 2017;initiator methionine:1 for 8977423 removed on Fri Nov 03 2023;initiator methionine: for 8977423 added on Fri Nov 03 2023;initiator methionine: for 8977423 removed on Fri Aug 15 2025;initiator methionine:1 for 8977423 added on Fri Aug 15 2025 |
| _displayName | UniProt:Q14353-1 GAMT |
| _timestamp | 2025-08-15 21:52:58 |
| chain | initiator methionine:1 chain:2-236 |
| checksum | 6B8E845CE56189F5 |
| comment | FUNCTION Converts guanidinoacetate to creatine, using S-adenosylmethionine as the methyl donor (PubMed:24415674, PubMed:26003046, PubMed:26319512). Important in nervous system development (PubMed:24415674).CATALYTIC ACTIVITY guanidinoacetate + S-adenosyl-L-methionine = creatine + S-adenosyl-L-homocysteine + H(+)PATHWAY Amine and polyamine biosynthesis; creatine biosynthesis; creatine from L-arginine and glycine: step 2/2.SUBUNIT Monomer.INTERACTION Expressed in liver.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the class I-like SAM-binding methyltransferase superfamily. RMT2 methyltransferase family. |
| created | [InstanceEdit:8964659] Weiser, JD |
| description | recommendedName: Guanidinoacetate N-methyltransferase ecNumber: 2.1.1.2 |
| geneName | GAMT |
| identifier | Q14353 |
| isoformParent | |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Alternative splicing Disease variant Methyltransferase Proteomics identification Reference proteome S-adenosyl-L-methionine Transferase |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | GAMT |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8962474] ENSEMBL:ENSG00000130005 GAMT [Homo sapiens] |
| secondaryIdentifier | GAMT_HUMAN A8K0A0 Q53Y34 Q8WVJ1 |
| sequenceLength | 236 |
| species | [Species:48887] Homo sapiens |
| variantIdentifier | Q14353-1 |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q14353-1 GAMT (8977423)
