GNMT
entrez
27232
canonical
uniprot
Q14749
canonical
ensembl
ENSG00000124713
resolver
ensp
ENSP00000361894
resolver
ensp
ENSP00000528745
resolver
enst
ENST00000372808
resolver
genesymbol
GNMT
resolver
genesymbol
HEL-S-182mP
resolver
genesymbol_syn
GNMT
resolver
hgnc
HGNC:4415
resolver
uniprot
A0A0S2Z5F2
resolver
uniprot
Q5T8W2
resolver
uniprot
Q9NNZ1
resolver
uniprot
Q9NS24
resolver
uniprot
V9HW60
resolver
uniprot_entry
A0A0S2Z5F2_HUMAN
resolver
uniprot_entry
GNMT_HUMAN
resolver
uniprot_entry
V9HW60_HUMAN
resolver
uniprot_sec
Q5T8W2
resolver
uniprot_sec
Q9NNZ1
resolver
uniprot_sec
Q9NS24
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by 5-methyltetrahydrofolate monoglutamate and by 5-methyltetrahydrofolate pentaglutamate, inhibition is much more effective by the pentaglutamate form than by the monoglutamate form. Two molecules of 5-methyltetrahydrofolate are bound per tetramer. The binding sites are localized between subunits. Inhibitor binding may preclude movements of the polypeptide chain that are necessary for enzyme activity. {ECO:0000250|UniProtKB:P13255}.
uniprot
proteins
amino_acid_sequence
MVDSVYRTRSLGVAAEGLPDQYADGEAARVWQLYIGDTRSRTAEYKAWLLGLLRQHGCQRVLDVACGTGVDSIMLVEEGFSVTSVDASDKMLKYALKERWNRRHEPAFDKWVIEEANWMTLDKDVPQSAEGGFDAVICLGNSFAHLPDCKGDQSEHRLALKNIASMVRAGGLLVIDHRNYDHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTLDYTVQVPGAGQDGSPGLSKFRLSYYPHCLASFTELLQAAFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD
uniprot
proteins
disease_involvement
DISEASE: Glycine 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 variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.1.1.20
uniprot
proteins
function
FUNCTION: Catalyzes the methylation of glycine by using S-adenosylmethionine (AdoMet) to form N-methylglycine (sarcosine) with the concomitant production of S-adenosylhomocysteine (AdoHcy), a reaction regulated by the binding of 5-methyltetrahydrofolate. Plays an important role in the regulation of methyl group metabolism by regulating the ratio between S-adenosyl-L-methionine and S-adenosyl-L-homocysteine. {ECO:0000269|PubMed:14651980, ECO:0000269|PubMed:14739680, ECO:0000269|PubMed:17660255, ECO:0000269|PubMed:8281755}.
uniprot
proteins
mass_dalton
32742
uniprot
proteins
protein_family
Class I-like SAM-binding methyltransferase superfamily
uniprot
proteins
protein_family
Glycine N-methyltransferase family
uniprot
proteins
pubmed
10843803
uniprot
proteins
pubmed
11810299
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14651980
uniprot
proteins
pubmed
14739680
uniprot
proteins
pubmed
15340920
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17660255
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
8281755
uniprot
proteins
pubmed
9495250
uniprot
proteins
sequence_length
295
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P13255}.
uniprot
proteins