TPMT Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | TPMT |
| Official Name | thiopurine S-methyltransferase [Source:HGNC Symbol;Acc:HGNC:12014] |
| Ensembl ID | ENSG00000137364 |
| Bio databases IDs | |
| Aliases | thiopurine S-methyltransferase |
| Synonyms | AW106912, LOC681730, OCCLUDIN, thiopurine methyltransferase, thiopurine S-methyltransferase, TPMTD |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TPMT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- thiopurine S-methyltransferase
- binding protein
- Thiopurine S-methyltransferase (TPMT)
- thiopurine S-methyltransferase, Se/Te detoxification family
- enzyme
- protein binding
- AdoMet_MTases
- methyltransferase domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neutropenia
- bone marrow toxicity
- myelosuppression
- drug toxicity
- cisplatin-induced hearing loss
- thrombocytosis
- psoriasis
- hearing loss
- hematological toxicity
- inflammatory bowel disease
regulates
- thioguanine nucleotide
- 6-mercaptopurine
- thioguanine
- xenobiotic
- nucleotide
- azathioprine
- azathioprine metabolite
- thioinosinic acid
- thiopurine metabolite
- methylmercaptopurine nucleotide
role in cell
- proliferation
- cell viability
- abnormality
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cell-cell contacts
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TPMT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- xenobiotic metabolic process
- xenobiotic catabolic process
- nucleobase-containing compound metabolic process
- methylation
Cellular Component
Where in the cell the gene product is active
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- thiopurine S-methyltransferase activity