Homo sapiens Gene: TPMT
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
Protein Structure
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:18128311-18155074
Strand Reverse strand
Band p22.3
Transcripts
ENST00000309983 ENSP00000312304
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0008119 thiopurine S-methyltransferase activity
GO:0008757 S-adenosylmethionine-dependent methyltransferase activity
Biological Process
GO:0006139 nucleobase-containing compound metabolic process
GO:0006805 xenobiotic metabolic process
GO:0032259 methylation
GO:0044281 small molecule metabolic process
Cellular Component
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Methylation pathway
Phase II conjugation pathway
Metabolism pathway
Biological oxidations pathway
KEGG
Drug metabolism pathway
INOH
PID BIOCARTA
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 01760
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