• Gene id: 7172

Gene Summary

• Gene Symbol: TPMT   Gene   UCSC   Ensembl
• Aliases: TPMTD
• Gene name: thiopurine S-methyltransferase
• Alternate names: thiopurine S-methyltransferase, S-adenosyl-L-methionine:thiopurine S-methyltransferase,
• Gene location: 6p22.3 (18155168: 18128310)     Exons: 29     NC_000006.12
• Gene summary(Entrez): 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 polymorph
• OMIM: 187680

Protein Summary

• Protein general information: P51580  
  • Name: Thiopurine S methyltransferase (EC 2.1.1.67) (Thiopurine methyltransferase)
  • Length: 245  
  • Mass: 28180
• Sequence:

  MDGTRTSLDIEEYSDTEVQKNQVLTLEEWQDKWVNGKTAFHQEQGHQLLKKHLDTFLKGKSGLRVFFPLCGKAVE
  MKWFADRGHSVVGVEISELGIQEFFTEQNLSYSEEPITEIPGTKVFKSSSGNISLYCCSIFDLPRTNIGKFDMIW
  DRGALVAINPGDRKCYADTMFSLLGKKFQYLLCVLSYDPTKHPGPPFYVPHAEIERLFGKICNIRCLEKVDAFEE
  RHKSWGIDCLFEKLYLLTEK

• Structural information:
  • Interpro: IPR029063  IPR025835  IPR008854  
  • Prosite: PS51585
  • PDB: 2BZG 2H11
  • PDBsum: 2BZG 2H11
  • STRING: ENSP00000312304
• Other Databases: GeneCards:  TPMT  Malacards:  TPMT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008119	thiopurine S-methyltransferase activity	IBA	molecular function
GO:1904047	S-adenosyl-L-methionine binding	IDA	molecular function
GO:0017144	drug metabolic process	IDA	biological process
GO:0017144	drug metabolic process	IDA	biological process
GO:1904047	S-adenosyl-L-methionine binding	IDA	molecular function
GO:0008119	thiopurine S-methyltransferase activity	IDA	molecular function
GO:0008119	thiopurine S-methyltransferase activity	IDA	molecular function
GO:0008757	S-adenosylmethionine-dependent methyltransferase activity	IEA	molecular function
GO:0008119	thiopurine S-methyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0008119	thiopurine S-methyltransferase activity	TAS	molecular function
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
GO:0008119	thiopurine S-methyltransferase activity	IEA	molecular function
GO:0008119	thiopurine S-methyltransferase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0032259	methylation	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00983	Drug metabolism - other enzymes

Diseases

Associated diseases	References
Thiopurine S-methyltransferase deficiency	KEGG:H00964
Thiopurine S-methyltransferase deficiency	KEGG:H00964
Inflammatory bowel disease	PMID:17026564
Leukopenia	PMID:24322830
Alopecia	PMID:24322830
acute lymphocytic leukemia	PMID:22009189
acute lymphocytic leukemia	PMID:17164697
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881