TPMT
Summary: This gene encodes the enzyme that metabolizes thiopurine drugs via S-adenosyl-L-methionine as the S-methyl donor and S-adenosyl-L-homocysteine as a byproduct. Thiopurine drugs such as 6-mercaptopurine are used as chemotherapeutic agents. Genetic polymorphisms that affect this enzymatic activity are correlated with variations in sensitivity and toxicity to such drugs within individuals, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
thiopurine S-methyltransferase | MIM:187680 | Ensembl:ENSG00000137364 | HGNC:HGNC:12014 | PA356 | 6p22.3 |
Gene Categories:
DRUGGABLE GENOMEGO terms in TPMT
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IBA | GO:0008119 | thiopurine S-methyltransferase activity |
MF | IDA | GO:0008119 | thiopurine S-methyltransferase activity |
MF | TAS | GO:0008119 | thiopurine S-methyltransferase activity |
MF | IDA | GO:1904047 | S-adenosyl-L-methionine binding |
BP | TAS | GO:0006139 | nucleobase-containing compound metabolic process |
BP | IDA | GO:0017144 | drug metabolic process |
BP | TAS | GO:0032259 | methylation |
CC | TAS | GO:0005829 | cytosol |
Gene expression in normal tissue: TPMT
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TPMT
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1430728 | Metabolism |
reactome | R-HSA-156580 | Phase II - Conjugation of compounds |
reactome | R-HSA-156581 | Methylation |
reactome | R-HSA-1643685 | Disease |
reactome | R-HSA-211859 | Biological oxidations |
reactome | R-HSA-5578995 | Defective TPMT causes Thiopurine S-methyltransferase deficiency (TPMT deficiency) |
reactome | R-HSA-5579029 | Metabolic disorders of biological oxidation enzymes |
reactome | R-HSA-5668914 | Diseases of metabolism |
wikipathways | WP702 | Metapathway biotransformation Phase I and II |
wikipathways | WP704 | Methylation Pathways |
smpdb | SMP00427 | Azathioprine Action Pathway |
smpdb | SMP00428 | Mercaptopurine Action Pathway |
smpdb | SMP00430 | Thioguanine Action Pathway |
smpdb | SMP00609 | Mercaptopurine Metabolism Pathway |
pharmgkb | PA2040 | Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics |
kegg | hsa00983 | Drug metabolism - other enzymes - Homo sapiens (human) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD284 | Palbociclib | 2 |
iGMDRD160 | Cis-Platin | 6 |
iGMDRD195 | Mercaptopurine | 6 |
iGMDRD217 | Thioguanine | 6 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TPMT