GNMT (glycine N-methyltransferase)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27232
Gene name Gene Name - the full gene name approved by the HGNC.
Glycine N-methyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GNMT
Synonyms (NCBI Gene) Gene synonyms aliases
HEL-S-182mP
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is an enzyme that catalyzes the conversion of S-adenosyl-L-methionine (along with glycine) to S-adenosyl-L-homocysteine and sarcosine. This protein is found in the cytoplasm and acts as a homotetramer. Defects in this gene
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
miRTarBase ID miRNA Experiments Reference
MIRT016781 hsa-miR-335-5p Microarray 18185580
MIRT2437451 hsa-miR-1291 CLIP-seq
MIRT2437452 hsa-miR-3151 CLIP-seq
MIRT2437453 hsa-miR-328 CLIP-seq
MIRT2437454 hsa-miR-3650 CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
AR Unknown 23997240
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 21988832, 26871637, 31515488, 32296183
GO:0005542 Function Folic acid binding IEA
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606628 4415 ENSG00000124713
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q14749
Protein name Glycine N-methyltransferase (EC 2.1.1.20)
Protein 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.
PDB 1R74 , 2AZT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13649 Methyltransf_25 61 → 171 Methyltransferase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed only in liver, pancreas, and prostate. {ECO:0000269|PubMed:9495250}.
Sequence 
MVDSVYRTRSLGVAAEGLPDQYADGEAARVWQLYIGDTRSRTAEYKAWLLGLLRQHGCQR
VLDVACGTGVDSIMLVEEGFSVTSVDASDKMLKYALKERWNRRHEPAFDKWVIEEANWMT
LDKDVPQSAEGGFDAVICLGNSFAHLPDCKGDQSEHRLALKNIASMVRAGGLLVIDHRNY
DHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTLDYTVQVPGAGQDGSPGLSK
FRLSYYPHCLASFTELLQAAFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD
Sequence length 295
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Glycine, serine and threonine metabolism
Cysteine and methionine metabolism
One carbon pool by folate
Metabolic pathways 		  Glyoxylate metabolism and glycine degradation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Glycine n-methyltransferase deficiency Hypermethioninemia due to deficiency of glycine N-methyltransferase rs121907888, rs864321678 14739680, 16779654, 27207470, 11131452, 11810299, 11596649, 19585268, 17937387
Hepatic methionine adenosyltransferase deficiency Hepatic methionine adenosyltransferase deficiency rs118204001, rs118204003, rs118204004, rs72558181, rs118204005, rs138556525, rs913435613, rs376993881, rs1241692940, rs1554840677, rs116659053, rs373792557 11810299, 11596649
Hyperhomocysteinemia Hyperhomocysteinemia rs121964962, rs121964963, rs121964964, rs5742905, rs121964966, rs121964967, rs121964968, rs121964969, rs28934891, rs375846341, rs121964972, rs121964973, rs398123151, rs786204466, rs786204679
View all (66 more)		 16317120
Hypermethioninemia Hypermethioninemia due to glycine N-methyltransferase deficiency rs121918607, rs121918608, rs757966746, rs773162208
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Glycine N-methyltransferase deficiency glycine N-methyltransferase deficiency GenCC
Show/Hide Text Mining Associations (16)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37589509
Breast Neoplasms Associate 24884785, 37747033
Carcinogenesis Associate 21572396
Carcinoma Hepatocellular Associate 21411609, 30138348, 32290267, 35008908
Dysplastic Nevus Syndrome Associate 24999589
Heart Defects Congenital Associate 28264803
Liver Diseases Associate 30138348
Melanoma Associate 24999589
Neoplasm Metastasis Associate 25550822
Neoplasms Inhibit 21411609