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

    Gene ID: 7172, updated on 6-Jun-2024

    Summary

    Official Symbol
    TPMTprovided by HGNC
    Official Full Name
    thiopurine S-methyltransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:12014
    See related
    Ensembl:ENSG00000137364 MIM:187680; AllianceGenome:HGNC:12014
    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
    Also known as
    TPMTD
    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]
    Expression
    Broad expression in thyroid (RPKM 38.6), kidney (RPKM 27.8) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TPMT in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (18128311..18155169, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (18000482..18027339, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (18128542..18155400, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene kinesin family member 13A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:17976631-17977191 Neighboring gene ribosomal protein S12 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16967 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24116 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:18022491-18023444 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:18089369-18090086 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:18146951-18148150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24117 Neighboring gene NHL repeat containing E3 ubiquitin protein ligase 1 Neighboring gene MPRA-validated peak5710 silencer Neighboring gene lysine demethylase 1B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24118 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24119 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:18227006-18227518 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:18227519-18228032 Neighboring gene Sharpr-MPRA regulatory region 13525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24120 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:18263885-18264436 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16973 Neighboring gene DEK proto-oncogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables S-adenosyl-L-methionine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables thiopurine S-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables thiopurine S-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables thiopurine S-methyltransferase activity TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    thiopurine S-methyltransferase
    Names
    S-adenosyl-L-methionine:thiopurine S-methyltransferase
    NP_000358.1
    NP_001333746.1
    NP_001333747.1
    XP_047275245.1
    XP_047275246.1
    XP_054212273.1
    XP_054212274.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_012137.3 RefSeqGene

      Range
      5067..31833
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_874

    mRNA and Protein(s)

    1. NM_000367.5NP_000358.1  thiopurine S-methyltransferase isoform 1

      See identical proteins and their annotated locations for NP_000358.1

      Status: REVIEWED

      Source sequence(s)
      AL589723
      Consensus CDS
      CCDS4543.1
      UniProtKB/Swiss-Prot
      O14806, O15423, O15424, O15425, O15426, O15515, O15548, O43213, P51580, Q5VUK6, Q9UBE6, Q9UBT8, Q9UE62
      UniProtKB/TrEMBL
      Q9BS45
      Related
      ENSP00000312304.4, ENST00000309983.5
      Conserved Domains (1) summary
      pfam05724
      Location:24245
      TPMT; Thiopurine S-methyltransferase (TPMT)
    2. NM_001346817.1NP_001333746.1  thiopurine S-methyltransferase isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL589723, BC009596
      Consensus CDS
      CCDS4543.1
      UniProtKB/Swiss-Prot
      O14806, O15423, O15424, O15425, O15426, O15515, O15548, O43213, P51580, Q5VUK6, Q9UBE6, Q9UBT8, Q9UE62
      UniProtKB/TrEMBL
      Q9BS45
      Conserved Domains (1) summary
      pfam05724
      Location:24245
      TPMT; Thiopurine S-methyltransferase (TPMT)
    3. NM_001346818.1NP_001333747.1  thiopurine S-methyltransferase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL589723, BC009596
      UniProtKB/TrEMBL
      Q9BS45

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      18128311..18155169 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419290.1XP_047275246.1  thiopurine S-methyltransferase isoform X2

      UniProtKB/TrEMBL
      Q9BS45
    2. XM_047419289.1XP_047275245.1  thiopurine S-methyltransferase isoform X1

      UniProtKB/Swiss-Prot
      O14806, O15423, O15424, O15425, O15426, O15515, O15548, O43213, P51580, Q5VUK6, Q9UBE6, Q9UBT8, Q9UE62
      UniProtKB/TrEMBL
      Q9BS45

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      18000482..18027339 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356299.1XP_054212274.1  thiopurine S-methyltransferase isoform X2

      UniProtKB/TrEMBL
      Q9BS45
    2. XM_054356298.1XP_054212273.1  thiopurine S-methyltransferase isoform X1

      UniProtKB/Swiss-Prot
      O14806, O15423, O15424, O15425, O15426, O15515, O15548, O43213, P51580, Q5VUK6, Q9UBE6, Q9UBT8, Q9UE62
      UniProtKB/TrEMBL
      Q9BS45