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MGP004940

UniProt Annotations

Entry Information
Gene Nameglycine N-methyltransferase
Protein EntryGNMT_HUMAN
UniProt IDQ14749
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityS-adenosyl-L-methionine + glycine = S- adenosyl-L-homocysteine + sarcosine.
DiseaseGlycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]: The only clinical abnormalities in patients with this deficiency are mild hepatomegaly and chronic elevation of serum transaminases. {ECO:0000269|PubMed:11810299, ECO:0000269|PubMed:14739680}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the methylation of glycine by using S- adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy). Possible crucial role in the regulation of tissue concentration of AdoMet and of metabolism of methionine. {ECO:0000269|PubMed:15340920, ECO:0000269|PubMed:17660255}.
InteractionP49407:ARRB1; NbExp=5; IntAct=EBI-744239, EBI-743313;
SimilarityBelongs to the class I-like SAM-binding methyltransferase superfamily. Glycine N-methyltransferase family. {ECO:0000255|PROSITE-ProRule:PRU00932}.
Subcellular LocationCytoplasm.
SubunitHomotetramer. {ECO:0000269|PubMed:15340920, ECO:0000269|PubMed:17660255}.
Tissue SpecificityAbundant in liver.
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