InnateDB Protein
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IDBP-63866.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TPMT
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Protein Name
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thiopurine S-methyltransferase
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000312304
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InnateDB Gene
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IDBG-63864 (TPMT)
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Protein Structure
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Function |
Catalyzes the S-methylation of thiopurine drugs such as 6-mercaptopurine. {ECO:0000269PubMed:18484748}.
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Subcellular Localization |
Cytoplasm.
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Disease Associations |
Thiopurine S-methyltransferase deficiency (TPMT deficiency) [MIM:610460]: Enzyme involved in the normal metabolic inactivation of thiopurine drugs. These drugs are generally used as immunosuppressants or cytotoxic drugs and are prescribed for a variety of clinical conditions including leukemia, autoimmune disease and organ transplantation. Patients with intermediate or no TPMT activity are at risk of toxicity after receiving standard doses of thiopurine drugs and it is shown that inter-individual differences in response to these drugs are largely determined by genetic variation at the TPMT locus. {ECO:0000269PubMed:10208641, ECO:0000269PubMed:10751626, ECO:0000269PubMed:15819814, ECO:0000269PubMed:16220112, ECO:0000269PubMed:16476125, ECO:0000269PubMed:16789994, ECO:0000269PubMed:7862671, ECO:0000269PubMed:8561894, ECO:0000269PubMed:8644731, ECO:0000269PubMed:9246020, ECO:0000269PubMed:9336428, ECO:0000269PubMed:9711875, ECO:0000269PubMed:9931345, ECO:0000269PubMed:9931346}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
3
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0008119
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thiopurine S-methyltransferase activity
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GO:0008757
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S-adenosylmethionine-dependent methyltransferase activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR008854
TPMT family
IPR025835
Thiopurine S-methyltransferase
IPR029063
S-adenosyl-L-methionine-dependent methyltransferase-like
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PFAM |
PF05724
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PRINTS |
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PIRSF |
PIRSF023956
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P51580
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PhosphoSite |
PhosphoSite-P51580
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TrEMBL |
A0A024QZW0
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UniProt Splice Variant |
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Entrez Gene |
7172
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UniGene |
Hs.660747
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RefSeq |
NP_000358
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HUGO |
HGNC:12014
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OMIM |
187680
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CCDS |
CCDS4543
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HPRD |
01760
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IMGT |
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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
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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
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