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TPMT thiopurine S-methyltransferase [ Homo sapiens (human) ]

Gene ID: 7172, updated on 26-Aug-2014
Official Symbol
TPMTprovided by HGNC
Official Full Name
thiopurine S-methyltransferaseprovided by HGNC
Primary source
HGNC:12014
See related
Ensembl:ENSG00000137364; HPRD:01760; MIM:187680; Vega:OTTHUMG00000014317
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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, causing thiopurine S-methyltransferase deficiency. Related pseudogenes have been identified on chromosomes 3, 18 and X. [provided by RefSeq, Aug 2014]
See TPMT in Epigenomics, MapViewer
Location:
6p22.3
Exon count:
9
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (18128311..18155143, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (18128542..18155374, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene kinesin family member 13A Neighboring gene ribosomal protein S12 pseudogene 12 Neighboring gene NHL repeat containing E3 ubiquitin protein ligase 1 Neighboring gene lysine (K)-specific demethylase 1B Neighboring gene DEK proto-oncogene

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
thiopurine S-methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
methylation TAS
Traceable Author Statement
more info
 
nucleobase-containing compound metabolic process TAS
Traceable Author Statement
more info
PubMed 
response to testosterone IEA
Inferred from Electronic Annotation
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
Preferred Names
thiopurine S-methyltransferase
Names
thiopurine S-methyltransferase
S-adenosyl-L-methionine:thiopurine S-methyltransferase
NP_000358.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012137.2 

    Range
    4979..31833
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000367.3NP_000358.1  thiopurine S-methyltransferase

    See proteins identical to NP_000358.1

    Status: REVIEWED

    Source sequence(s)
    BC009596, DB481604, HY252883, HY300307, S62904
    Consensus CDS
    CCDS4543.1
    UniProtKB/Swiss-Prot
    P51580
    UniProtKB/TrEMBL
    Q9BS45
    Related
    ENSP00000312304, OTTHUMP00000016076, ENST00000309983, OTTHUMT00000039960
    Conserved Domains (1) summary
    pfam05724
    Location:39245
    Blast Score: 781
    TPMT; Thiopurine S-methyltransferase (TPMT)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    18128311..18155143
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    18072922..18099749
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    18131149..18157981
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)