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

    Gene ID: 7172, updated on 26-Jun-2015
    Official Symbol
    TPMTprovided by HGNC
    Official Full Name
    thiopurine S-methyltransferaseprovided by HGNC
    Primary source
    HGNC: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]
    Orthologs
    See TPMT in Epigenomics, MapViewer
    Location:
    6p22.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (18128311..18155165, 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 
    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 exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 RefSeqGene

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

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_000358.1

      Status: REVIEWED

      Source sequence(s)
      BC009596, DB481604, HY252883, HY300307, S62904
      Consensus CDS
      CCDS4543.1
      UniProtKB/TrEMBL
      A0A024QZW0
      UniProtKB/Swiss-Prot
      P51580
      Related
      ENSP00000312304, OTTHUMP00000016076, ENST00000309983, OTTHUMT00000039960
      Conserved Domains (1) summary
      pfam05724
      Location:39245
      TPMT; Thiopurine S-methyltransferase (TPMT)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

      Range
      18128311..18155165
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514839.1XP_011513141.1  

      Conserved Domains (1) summary
      pfam05724
      Location:39230
      TPMT; Thiopurine S-methyltransferase (TPMT)
    2. XM_011514840.1XP_011513142.1  

      Conserved Domains (1) summary
      pfam05724
      Location:25222
      TPMT; Thiopurine S-methyltransferase (TPMT)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      18131149..18158003
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)