GNMT (glycine N-methyltransferase)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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27232 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Glycine N-methyltransferase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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GNMT |
SynonymsGene synonyms aliases
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HEL-S-182mP |
ChromosomeChromosome number
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6 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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6p21.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Transcription factors
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Transcription factor |
Regulation |
Reference |
AR |
Unknown |
23997240 |
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF13649 |
Methyltransf_25 |
61 → 171 |
Methyltransferase domain |
Domain |
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Sequence |
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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.
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Associated diseases
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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 |
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Prostate cancer |
Malignant neoplasm of prostate |
rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 |
17332283 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Liver neoplasms |
Liver neoplasms |
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21137059 |
Liver cancer |
Malignant neoplasm of liver |
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21137059 |
Liver carcinoma |
Liver carcinoma |
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31086990, 19146867 |
Non-alcoholic fatty liver disease |
Non-alcoholic Fatty Liver Disease, Nonalcoholic Steatohepatitis |
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31086990 |
Prostatic neoplasms |
Prostatic Neoplasms |
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17332283 |
S-adenosylhomocysteine hydrolase deficiency |
S-adenosylhomocysteine hydrolase deficiency |
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11596649, 11810299 |
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