UniProtKB - Q14749 (GNMT_HUMAN)
Protein
Glycine N-methyltransferase
Gene
GNMT
Organism
Homo sapiens (Human)
Status
Functioni
Catalyzes 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.2 Publications
Catalytic activityi
- EC:2.1.1.20
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 22 | S-adenosyl-L-methioninePROSITE-ProRule annotation | 1 | |
Binding sitei | 31 | S-adenosyl-L-methioninePROSITE-ProRule annotation | 1 | |
Binding sitei | 34 | SubstratePROSITE-ProRule annotation | 1 | |
Binding sitei | 41 | S-adenosyl-L-methioninePROSITE-ProRule annotation | 1 | |
Binding sitei | 65 | S-adenosyl-L-methionine; via carbonyl oxygenPROSITE-ProRule annotation | 1 | |
Binding sitei | 86 | S-adenosyl-L-methioninePROSITE-ProRule annotation | 1 | |
Binding sitei | 139 | S-adenosyl-L-methionine; via carbonyl oxygenPROSITE-ProRule annotation | 1 | |
Binding sitei | 141 | SubstratePROSITE-ProRule annotation | 1 | |
Binding sitei | 178 | SubstratePROSITE-ProRule annotation | 1 | |
Binding sitei | 223 | SubstratePROSITE-ProRule annotation | 1 |
GO - Molecular functioni
- folic acid binding Source: UniProtKB-KW
- glycine binding Source: UniProtKB
- glycine N-methyltransferase activity Source: UniProtKB
- identical protein binding Source: IntAct
- S-adenosyl-L-methionine binding Source: GO_Central
GO - Biological processi
- cellular nitrogen compound metabolic process Source: Reactome
- cellular protein modification process Source: UniProtKB
- glycogen metabolic process Source: Ensembl
- methionine metabolic process Source: Ensembl
- one-carbon metabolic process Source: GO_Central
- protein homotetramerization Source: UniProtKB
- regulation of gluconeogenesis Source: GO_Central
- S-adenosylhomocysteine metabolic process Source: GO_Central
- S-adenosylmethionine metabolic process Source: UniProtKB
- sarcosine metabolic process Source: GO_Central
Keywordsi
Molecular function | Methyltransferase, Transferase |
Ligand | Folate-binding, S-adenosyl-L-methionine |
Enzyme and pathway databases
BRENDAi | 2.1.1.20 2681 |
Reactomei | R-HSA-2408508 Metabolism of ingested SeMet, Sec, MeSec into H2Se R-HSA-389661 Glyoxylate metabolism and glycine degradation |
SABIO-RKi | Q14749 |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:GNMT |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4415 GNMT |
MIMi | 606628 gene |
neXtProti | NX_Q14749 |
Subcellular locationi
Other locations
Cytosol
- cytosol Source: HPA
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Glycine N-methyltransferase deficiency (GNMT deficiency)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionThe only clinical abnormalities in patients with this deficiency are mild hepatomegaly and chronic elevation of serum transaminases.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012766 | 50 | L → P in GNMT deficiency; 10% wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs121907888EnsemblClinVar. | 1 | |
Natural variantiVAR_019840 | 141 | N → S in GNMT deficiency; 0.5% wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs864321678EnsemblClinVar. | 1 | |
Natural variantiVAR_012767 | 177 | H → N in GNMT deficiency; 75% wild-type activity, decreases stability of the tetramer. 3 PublicationsCorresponds to variant dbSNP:rs121907889EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 27232 |
MalaCardsi | GNMT |
MIMi | 606664 phenotype |
OpenTargetsi | ENSG00000124713 |
Orphaneti | 289891 Hypermethioninemia due to glycine N-methyltransferase deficiency |
PharmGKBi | PA28794 |
Miscellaneous databases
Pharosi | Q14749 |
Chemistry databases
DrugBanki | DB00118 Ademetionine DB04272 Citric acid DB00145 Glycine DB01752 S-adenosyl-L-homocysteine |
Polymorphism and mutation databases
BioMutai | GNMT |
DMDMi | 12644416 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedBy similarity | |||
ChainiPRO_0000087524 | 2 – 295 | Glycine N-methyltransferaseAdd BLAST | 294 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylvalineBy similarity | 1 | |
Modified residuei | 10 | PhosphoserineBy similarity | 1 | |
Modified residuei | 34 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 46 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 193 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 198 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 203 | N6-succinyllysineBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
MassIVEi | Q14749 |
PaxDbi | Q14749 |
PeptideAtlasi | Q14749 |
PRIDEi | Q14749 |
ProteomicsDBi | 60155 |
PTM databases
iPTMneti | Q14749 |
PhosphoSitePlusi | Q14749 |
Expressioni
Tissue specificityi
Abundant in liver.
Gene expression databases
Bgeei | ENSG00000124713 Expressed in 95 organ(s), highest expression level in body of pancreas |
ExpressionAtlasi | Q14749 baseline and differential |
Genevisiblei | Q14749 HS |
Organism-specific databases
HPAi | HPA027501 |
Interactioni
Subunit structurei
Homotetramer.
2 PublicationsBinary interactionsi
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGridi | 118081, 23 interactors |
IntActi | Q14749, 26 interactors |
MINTi | Q14749 |
STRINGi | 9606.ENSP00000361894 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q14749 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q14749 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 117 – 118 | S-adenosyl-L-methionine bindingPROSITE-ProRule annotation | 2 |
Sequence similaritiesi
Belongs to the class I-like SAM-binding methyltransferase superfamily. Glycine N-methyltransferase family.PROSITE-ProRule annotation
Phylogenomic databases
eggNOGi | ENOG410IF1C Eukaryota ENOG410ZWXN LUCA |
GeneTreei | ENSGT00390000006845 |
HOGENOMi | HOG000276537 |
InParanoidi | Q14749 |
KOi | K00552 |
OMAi | MITLDYT |
OrthoDBi | 1049906at2759 |
PhylomeDBi | Q14749 |
TreeFami | TF324814 |
Family and domain databases
InterProi | View protein in InterPro IPR014369 Gly/Sar_N_MeTrfase IPR041698 Methyltransf_25 IPR029063 SAM-dependent_MTases |
PANTHERi | PTHR16458 PTHR16458, 1 hit |
Pfami | View protein in Pfam PF13649 Methyltransf_25, 1 hit |
PIRSFi | PIRSF000385 Gly_N-mtase, 1 hit |
SUPFAMi | SSF53335 SSF53335, 1 hit |
PROSITEi | View protein in PROSITE PS51600 SAM_GNMT, 1 hit |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
Q14749-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MVDSVYRTRS LGVAAEGLPD QYADGEAARV WQLYIGDTRS RTAEYKAWLL
60 70 80 90 100
GLLRQHGCQR VLDVACGTGV DSIMLVEEGF SVTSVDASDK MLKYALKERW
110 120 130 140 150
NRRHEPAFDK WVIEEANWMT LDKDVPQSAE GGFDAVICLG NSFAHLPDCK
160 170 180 190 200
GDQSEHRLAL KNIASMVRAG GLLVIDHRNY DHILSTGCAP PGKNIYYKSD
210 220 230 240 250
LTKDVTTSVL IVNNKAHMVT LDYTVQVPGA GQDGSPGLSK FRLSYYPHCL
260 270 280 290
ASFTELLQAA FGGKCQHSVL GDFKPYKPGQ TYIPCYFIHV LKRTD
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 119 | Missing in CAA44164 (PubMed:8281755).Curated | 1 | |
Sequence conflicti | 129 – 130 | AE → PK in AAF78289 (PubMed:10843803).Curated | 2 | |
Sequence conflicti | 175 | I → S in CAA44164 (PubMed:8281755).Curated | 1 | |
Sequence conflicti | 256 – 260 | LLQAA → SPSS in CAA44164 (PubMed:8281755).Curated | 5 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012766 | 50 | L → P in GNMT deficiency; 10% wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs121907888EnsemblClinVar. | 1 | |
Natural variantiVAR_019840 | 141 | N → S in GNMT deficiency; 0.5% wild-type activity. 2 PublicationsCorresponds to variant dbSNP:rs864321678EnsemblClinVar. | 1 | |
Natural variantiVAR_012767 | 177 | H → N in GNMT deficiency; 75% wild-type activity, decreases stability of the tetramer. 3 PublicationsCorresponds to variant dbSNP:rs121907889EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF101477 mRNA Translation: AAF78290.1 AF101475 Genomic DNA Translation: AAF78289.1 AL158815 Genomic DNA No translation available. CH471081 Genomic DNA Translation: EAX04124.1 BC032627 mRNA Translation: AAH32627.1 X62250 mRNA Translation: CAA44164.1 |
CCDSi | CCDS4876.1 |
PIRi | S42627 |
RefSeqi | NP_001305794.1, NM_001318865.1 NP_061833.1, NM_018960.5 |
Genome annotation databases
Ensembli | ENST00000372808; ENSP00000361894; ENSG00000124713 |
GeneIDi | 27232 |
KEGGi | hsa:27232 |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF101477 mRNA Translation: AAF78290.1 AF101475 Genomic DNA Translation: AAF78289.1 AL158815 Genomic DNA No translation available. CH471081 Genomic DNA Translation: EAX04124.1 BC032627 mRNA Translation: AAH32627.1 X62250 mRNA Translation: CAA44164.1 |
CCDSi | CCDS4876.1 |
PIRi | S42627 |
RefSeqi | NP_001305794.1, NM_001318865.1 NP_061833.1, NM_018960.5 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1R74 | X-ray | 2.55 | A/B | 2-295 | [»] | |
2AZT | X-ray | 2.70 | A/B | 1-295 | [»] | |
SMRi | Q14749 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGridi | 118081, 23 interactors |
IntActi | Q14749, 26 interactors |
MINTi | Q14749 |
STRINGi | 9606.ENSP00000361894 |
Chemistry databases
DrugBanki | DB00118 Ademetionine DB04272 Citric acid DB00145 Glycine DB01752 S-adenosyl-L-homocysteine |
PTM databases
iPTMneti | Q14749 |
PhosphoSitePlusi | Q14749 |
Polymorphism and mutation databases
BioMutai | GNMT |
DMDMi | 12644416 |
Proteomic databases
MassIVEi | Q14749 |
PaxDbi | Q14749 |
PeptideAtlasi | Q14749 |
PRIDEi | Q14749 |
ProteomicsDBi | 60155 |
Protocols and materials databases
DNASUi | 27232 |
Genome annotation databases
Ensembli | ENST00000372808; ENSP00000361894; ENSG00000124713 |
GeneIDi | 27232 |
KEGGi | hsa:27232 |
Organism-specific databases
CTDi | 27232 |
DisGeNETi | 27232 |
GeneCardsi | GNMT |
HGNCi | HGNC:4415 GNMT |
HPAi | HPA027501 |
MalaCardsi | GNMT |
MIMi | 606628 gene 606664 phenotype |
neXtProti | NX_Q14749 |
OpenTargetsi | ENSG00000124713 |
Orphaneti | 289891 Hypermethioninemia due to glycine N-methyltransferase deficiency |
PharmGKBi | PA28794 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG410IF1C Eukaryota ENOG410ZWXN LUCA |
GeneTreei | ENSGT00390000006845 |
HOGENOMi | HOG000276537 |
InParanoidi | Q14749 |
KOi | K00552 |
OMAi | MITLDYT |
OrthoDBi | 1049906at2759 |
PhylomeDBi | Q14749 |
TreeFami | TF324814 |
Enzyme and pathway databases
BRENDAi | 2.1.1.20 2681 |
Reactomei | R-HSA-2408508 Metabolism of ingested SeMet, Sec, MeSec into H2Se R-HSA-389661 Glyoxylate metabolism and glycine degradation |
SABIO-RKi | Q14749 |
Miscellaneous databases
EvolutionaryTracei | Q14749 |
GeneWikii | GNMT |
GenomeRNAii | 27232 |
Pharosi | Q14749 |
PROi | PR:Q14749 |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000124713 Expressed in 95 organ(s), highest expression level in body of pancreas |
ExpressionAtlasi | Q14749 baseline and differential |
Genevisiblei | Q14749 HS |
Family and domain databases
InterProi | View protein in InterPro IPR014369 Gly/Sar_N_MeTrfase IPR041698 Methyltransf_25 IPR029063 SAM-dependent_MTases |
PANTHERi | PTHR16458 PTHR16458, 1 hit |
Pfami | View protein in Pfam PF13649 Methyltransf_25, 1 hit |
PIRSFi | PIRSF000385 Gly_N-mtase, 1 hit |
SUPFAMi | SSF53335 SSF53335, 1 hit |
PROSITEi | View protein in PROSITE PS51600 SAM_GNMT, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | GNMT_HUMAN | |
Accessioni | Q14749Primary (citable) accession number: Q14749 Secondary accession number(s): Q5T8W2, Q9NNZ1, Q9NS24 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | July 15, 1998 |
Last sequence update: | January 23, 2007 | |
Last modified: | September 18, 2019 | |
This is version 179 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Complete proteome, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - SIMILARITY comments
Index of protein domains and families - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references