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

Gene ID: 7172, updated on 8-Dec-2018

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
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

Genomic context

See TPMT in Genome Data Viewer
Location:
6p22.3
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (18128311..18155169, 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 demethylase 1B 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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
S-adenosyl-L-methionine binding IDA
Inferred from Direct Assay
more info
PubMed 
thiopurine S-methyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
thiopurine S-methyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
thiopurine S-methyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
drug metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
methylation TAS
Traceable Author Statement
more info
 
nucleobase-containing compound metabolic process TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
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

NCBI Reference Sequences (RefSeq)

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
    4975..31833
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000367.4NP_000358.1  thiopurine S-methyltransferase isoform 1

    See identical proteins and their annotated locations for NP_000358.1

    Status: REVIEWED

    Source sequence(s)
    AL589723, BC009596, DB481604, HY252883, HY300307, S62904
    Consensus CDS
    CCDS4543.1
    UniProtKB/Swiss-Prot
    P51580
    UniProtKB/TrEMBL
    A0A024QZW0
    Related
    ENSP00000312304.4, ENST00000309983.4
    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
    P51580
    UniProtKB/TrEMBL
    A0A024QZW0
    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/Swiss-Prot
    P51580

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

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