Version 5.4
| Homo sapiens Gene: TPMT | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-63864.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | TPMT | ||||||||||||||||||
| Gene Name | thiopurine S-methyltransferase | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000137364 | ||||||||||||||||||
| Encoded Proteins |
thiopurine S-methyltransferase
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| 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. A pseudogene for this locus is located on chromosome 18q. [provided by RefSeq, Jul 2008] 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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 6:18128311-18155074 | ||||||||||||||||||
| Strand | Reverse strand | ||||||||||||||||||
| Band | p22.3 | ||||||||||||||||||
| Transcripts |
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| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Methylation pathway
Phase II conjugation pathway
Metabolism pathway
Biological oxidations pathway
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| KEGG |
Drug metabolism pathway
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| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | P51580 | ||||||||||||||||||
| TrEMBL | A0A024QZW0 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 7172 | ||||||||||||||||||
| UniGene | Hs.444319 Hs.606141 Hs.660747 | ||||||||||||||||||
| RefSeq | NM_000367 | ||||||||||||||||||
| HUGO | HGNC:12014 | ||||||||||||||||||
| OMIM | 187680 | ||||||||||||||||||
| CCDS | CCDS4543 | ||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AB045146 AF019364 AF019365 AF019366 AF019367 AF019368 AF019369 AF021876 AF021877 AF035426 AL589723 BC009596 CH471087 S62904 U12387 U30512 U30513 U30514 U30515 U30516 U30517 U30518 U81562 U81563 U81564 U81565 U81566 U81567 U81568 U81569 U81570 U81571 U81572 U81573 | ||||||||||||||||||
| GenPept | AAB27277 AAB71625 AAB71626 AAB71627 AAB71628 AAB71629 AAB71630 AAB71631 AAB71632 AAB71633 AAB71634 AAB71635 AAB71636 AAB80746 AAB80747 AAC32289 AAC50130 AAC50368 AAC51865 AAH09596 BAA97037 CAH71233 EAW55396 EAW55397 | ||||||||||||||||||
| RNA Seq Atlas | 7172 | ||||||||||||||||||