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GNMT (glycine N-methyltransferase)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27232
Gene nameGene Name - the full gene name approved by the HGNC.
Glycine N-methyltransferase
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GNMT
SynonymsGene synonyms aliases
HEL-S-182mP
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.1
SummarySummary 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
miRNAmiRNA information provided by mirtarbase database.
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
Transcription factor Regulation Reference
AR Unknown 23997240
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MVDSVYRTRSLGVAAEGLPDQYADGEAARVWQLYIGDTRSRTAEYKAWLLGLLRQHGCQR
VLDVACGTGVDSIMLVEEGFSVTSVDASDKMLKYALKERWNRRHEPAFDKWVIEEANWMT
LDKDVPQSAEGGFDAVICLGNSFAHLPDCKGDQSEHRLALKNIASMVRAGG
LLVIDHRNY
DHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTLDYTVQVPGAGQDGSPGLSK
FRLSYYPHCLASFTELLQAAFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD
Sequence length 295
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term 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, rs763036586, rs771298943, rs758236584, rs775351239, rs764160782, rs770095972, rs760214620, rs786204757, rs794727083, rs781444670, rs149119723, rs769080151, rs372010465, rs777919630, rs863223432, rs863223430, rs773734233, rs762065361, rs775992753, rs778220779, rs863223435, rs199948079, rs148865119, rs779250698, rs886057100, rs1057516895, rs760417941, rs781567152, rs1057517373, rs766453711, rs763835246, rs755952006, rs1057517083, rs1057516256, rs751464024, rs748695461, rs757920190, rs1064794540, rs1064793703, rs377708532, rs528689432, rs757428597, rs1361324844, rs1347651454, rs1555871188, rs143124288, rs760609383, rs755625628, rs1555876784, rs1555869958, rs1555869979, rs1434118781, rs1555874121, rs763290176, rs1555874803, rs1555875292, rs865990681, rs1000697114, rs1568932835, rs1234354755, rs1170128038, rs1601339216, rs1981524462, rs376916741, rs373782713, rs1983442077 16317120
Hypermethioninemia Hypermethioninemia due to glycine N-methyltransferase deficiency rs121918607, rs121918608, rs757966746, rs773162208
Unknown
Disease name Disease term dbSNP ID References
Liver neoplasms Liver neoplasms 21137059
Liver cancer Malignant neoplasm of liver 21137059
Liver carcinoma Liver carcinoma 31086990, 19146867
Non-alcoholic fatty liver disease Non-alcoholic Fatty Liver Disease, Nonalcoholic Steatohepatitis 31086990

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